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Items: 1 to 20 of 2043

1.

rs1490472472 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    9:8449729 (GRCh38)
    9:8449729 (GRCh37)
    Canonical SPDI:
    NC_000009.12:8449728:T:C
    Gene:
    PTPRD (Varview)
    Functional Consequence:
    coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    HGVS:
    NC_000009.12:g.8449729T>C, NC_000009.11:g.8449729T>C, NG_033963.1:g.2167995A>G, NM_002839.4:c.3984A>G, NM_002839.3:c.3984A>G, NM_130391.4:c.2763A>G, NM_130391.3:c.2763A>G, NM_130392.3:c.2766A>G, NM_130393.3:c.2736A>G, NM_001171025.2:c.2721A>G, NM_001171025.1:c.2721A>G, NM_001040712.2:c.2754A>G, NM_001377958.1:c.4002A>G, NM_001378058.1:c.3999A>G, NM_001377947.1:c.2745A>G, NM_001377946.1:c.2733A>G, XM_006716817.5:c.3993A>G, XM_006716817.4:c.3993A>G, XM_006716817.3:c.3993A>G, XM_006716817.2:c.3993A>G, XM_006716817.1:c.3993A>G, XM_006716825.5:c.3984A>G, XM_006716825.4:c.3984A>G, XM_006716825.3:c.3984A>G, XM_006716825.2:c.3984A>G, XM_006716825.1:c.3984A>G, XM_006716827.5:c.3927A>G, XM_006716827.4:c.3927A>G, XM_006716827.3:c.3927A>G, XM_006716827.2:c.3927A>G, XM_006716827.1:c.3927A>G, XM_006716823.4:c.3987A>G, XM_006716823.3:c.3987A>G, XM_006716823.2:c.3987A>G, XM_006716823.1:c.3987A>G, XM_017014958.3:c.4002A>G, XM_017014958.2:c.4002A>G, XM_017014958.1:c.4002A>G, XM_017014965.3:c.3999A>G, XM_017014965.2:c.3999A>G, XM_017014965.1:c.3999A>G, XM_017014964.3:c.3999A>G, XM_017014964.2:c.3999A>G, XM_017014964.1:c.3999A>G, XM_017014963.3:c.3999A>G, XM_017014963.2:c.3999A>G, XM_017014963.1:c.3999A>G, XM_017014966.3:c.3993A>G, XM_017014966.2:c.3993A>G, XM_017014966.1:c.3993A>G, XM_017014967.3:c.3990A>G, XM_017014967.2:c.3990A>G, XM_017014967.1:c.3990A>G, XM_017014968.3:c.3987A>G, XM_017014968.2:c.3987A>G, XM_017014968.1:c.3987A>G, XM_017014970.3:c.3984A>G, XM_017014970.2:c.3984A>G, XM_017014970.1:c.3984A>G, XM_017014969.3:c.3984A>G, XM_017014969.2:c.3984A>G, XM_017014969.1:c.3984A>G, XM_017014972.3:c.3975A>G, XM_017014972.2:c.3975A>G, XM_017014972.1:c.3975A>G, XM_017014971.3:c.3975A>G, XM_017014971.2:c.3975A>G, XM_017014971.1:c.3975A>G, XM_017014974.3:c.3972A>G, XM_017014974.2:c.3972A>G, XM_017014974.1:c.3972A>G, XM_017014977.3:c.3960A>G, XM_017014977.2:c.3960A>G, XM_017014977.1:c.3960A>G, XM_017014976.3:c.4002A>G, XM_017014976.2:c.4002A>G, XM_017014976.1:c.4002A>G, XM_017014978.3:c.3999A>G, XM_017014978.2:c.3999A>G, XM_017014978.1:c.3999A>G, XM_017014979.3:c.3996A>G, XM_017014979.2:c.3996A>G, XM_017014979.1:c.3996A>G, XM_017014961.3:c.4002A>G, XM_017014961.2:c.4002A>G, XM_017014961.1:c.4002A>G, XM_017014980.3:c.3957A>G, XM_017014980.2:c.3957A>G, XM_017014980.1:c.3957A>G, XM_017014982.3:c.2769A>G, XM_017014982.2:c.2769A>G, XM_017014982.1:c.2769A>G, XM_017014983.3:c.2766A>G, XM_017014983.2:c.2766A>G, XM_017014983.1:c.2766A>G, XM_024447625.2:c.3981A>G, XM_024447625.1:c.3981A>G, XM_047423641.1:c.4002A>G, XM_047423642.1:c.3984A>G, XM_047423644.1:c.3957A>G, XM_047423645.1:c.3945A>G, XM_047423647.1:c.3981A>G, XM_047423649.1:c.3927A>G, XM_047423651.1:c.3918A>G, XM_047423650.1:c.3960A>G, XM_047423652.1:c.3957A>G, XM_047423654.1:c.3954A>G, XM_047423653.1:c.3954A>G, XM_047423657.1:c.3942A>G, XM_047423643.1:c.3963A>G, XM_047423646.1:c.3942A>G, XM_047423648.1:c.3933A>G, XM_047423655.1:c.3948A>G, XM_047423656.1:c.3945A>G, XM_047423658.1:c.3921A>G, XM_047423659.1:c.3918A>G, XM_047423660.1:c.3915A>G

    2.

    rs1489849541 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>A,G,T [Show Flanks]
      Chromosome:
      9:8460527 (GRCh38)
      9:8460527 (GRCh37)
      Canonical SPDI:
      NC_000009.12:8460526:C:A,NC_000009.12:8460526:C:G,NC_000009.12:8460526:C:T
      Gene:
      PTPRD (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0./0 (ALFA)
      T=0.000007/1 (GnomAD)
      G=0.000012/3 (GnomAD_exomes)
      HGVS:
      NC_000009.12:g.8460527C>A, NC_000009.12:g.8460527C>G, NC_000009.12:g.8460527C>T, NC_000009.11:g.8460527C>A, NC_000009.11:g.8460527C>G, NC_000009.11:g.8460527C>T, NG_033963.1:g.2157197G>T, NG_033963.1:g.2157197G>C, NG_033963.1:g.2157197G>A, NM_002839.4:c.3759G>T, NM_002839.4:c.3759G>C, NM_002839.4:c.3759G>A, NM_002839.3:c.3759G>T, NM_002839.3:c.3759G>C, NM_002839.3:c.3759G>A, NM_130391.4:c.2526G>T, NM_130391.4:c.2526G>C, NM_130391.4:c.2526G>A, NM_130391.3:c.2526G>T, NM_130391.3:c.2526G>C, NM_130391.3:c.2526G>A, NM_130392.3:c.2526G>T, NM_130392.3:c.2526G>C, NM_130392.3:c.2526G>A, NM_130393.3:c.2511G>T, NM_130393.3:c.2511G>C, NM_130393.3:c.2511G>A, NM_001171025.2:c.2496G>T, NM_001171025.2:c.2496G>C, NM_001171025.2:c.2496G>A, NM_001171025.1:c.2496G>T, NM_001171025.1:c.2496G>C, NM_001171025.1:c.2496G>A, NM_001040712.2:c.2517G>T, NM_001040712.2:c.2517G>C, NM_001040712.2:c.2517G>A, NM_001377958.1:c.3762G>T, NM_001377958.1:c.3762G>C, NM_001377958.1:c.3762G>A, NM_001378058.1:c.3759G>T, NM_001378058.1:c.3759G>C, NM_001378058.1:c.3759G>A, NM_001377947.1:c.2520G>T, NM_001377947.1:c.2520G>C, NM_001377947.1:c.2520G>A, NM_001377946.1:c.2508G>T, NM_001377946.1:c.2508G>C, NM_001377946.1:c.2508G>A, XM_006716817.5:c.3756G>T, XM_006716817.5:c.3756G>C, XM_006716817.5:c.3756G>A, XM_006716817.4:c.3756G>T, XM_006716817.4:c.3756G>C, XM_006716817.4:c.3756G>A, XM_006716817.3:c.3756G>T, XM_006716817.3:c.3756G>C, XM_006716817.3:c.3756G>A, XM_006716817.2:c.3756G>T, XM_006716817.2:c.3756G>C, XM_006716817.2:c.3756G>A, XM_006716817.1:c.3756G>T, XM_006716817.1:c.3756G>C, XM_006716817.1:c.3756G>A, XM_006716825.5:c.3759G>T, XM_006716825.5:c.3759G>C, XM_006716825.5:c.3759G>A, XM_006716825.4:c.3759G>T, XM_006716825.4:c.3759G>C, XM_006716825.4:c.3759G>A, XM_006716825.3:c.3759G>T, XM_006716825.3:c.3759G>C, XM_006716825.3:c.3759G>A, XM_006716825.2:c.3759G>T, XM_006716825.2:c.3759G>C, XM_006716825.2:c.3759G>A, XM_006716825.1:c.3759G>T, XM_006716825.1:c.3759G>C, XM_006716825.1:c.3759G>A, XM_006716827.5:c.3690G>T, XM_006716827.5:c.3690G>C, XM_006716827.5:c.3690G>A, XM_006716827.4:c.3690G>T, XM_006716827.4:c.3690G>C, XM_006716827.4:c.3690G>A, XM_006716827.3:c.3690G>T, XM_006716827.3:c.3690G>C, XM_006716827.3:c.3690G>A, XM_006716827.2:c.3690G>T, XM_006716827.2:c.3690G>C, XM_006716827.2:c.3690G>A, XM_006716827.1:c.3690G>T, XM_006716827.1:c.3690G>C, XM_006716827.1:c.3690G>A, XM_006716823.4:c.3762G>T, XM_006716823.4:c.3762G>C, XM_006716823.4:c.3762G>A, XM_006716823.3:c.3762G>T, XM_006716823.3:c.3762G>C, XM_006716823.3:c.3762G>A, XM_006716823.2:c.3762G>T, XM_006716823.2:c.3762G>C, XM_006716823.2:c.3762G>A, XM_006716823.1:c.3762G>T, XM_006716823.1:c.3762G>C, XM_006716823.1:c.3762G>A, XM_017014958.3:c.3762G>T, XM_017014958.3:c.3762G>C, XM_017014958.3:c.3762G>A, XM_017014958.2:c.3762G>T, XM_017014958.2:c.3762G>C, XM_017014958.2:c.3762G>A, XM_017014958.1:c.3762G>T, XM_017014958.1:c.3762G>C, XM_017014958.1:c.3762G>A, XM_017014965.3:c.3759G>T, XM_017014965.3:c.3759G>C, XM_017014965.3:c.3759G>A, XM_017014965.2:c.3759G>T, XM_017014965.2:c.3759G>C, XM_017014965.2:c.3759G>A, XM_017014965.1:c.3759G>T, XM_017014965.1:c.3759G>C, XM_017014965.1:c.3759G>A, XM_017014964.3:c.3759G>T, XM_017014964.3:c.3759G>C, XM_017014964.3:c.3759G>A, XM_017014964.2:c.3759G>T, XM_017014964.2:c.3759G>C, XM_017014964.2:c.3759G>A, XM_017014964.1:c.3759G>T, XM_017014964.1:c.3759G>C, XM_017014964.1:c.3759G>A, XM_017014963.3:c.3762G>T, XM_017014963.3:c.3762G>C, XM_017014963.3:c.3762G>A, XM_017014963.2:c.3762G>T, XM_017014963.2:c.3762G>C, XM_017014963.2:c.3762G>A, XM_017014963.1:c.3762G>T, XM_017014963.1:c.3762G>C, XM_017014963.1:c.3762G>A, XM_017014966.3:c.3753G>T, XM_017014966.3:c.3753G>C, XM_017014966.3:c.3753G>A, XM_017014966.2:c.3753G>T, XM_017014966.2:c.3753G>C, XM_017014966.2:c.3753G>A, XM_017014966.1:c.3753G>T, XM_017014966.1:c.3753G>C, XM_017014966.1:c.3753G>A, XM_017014967.3:c.3750G>T, XM_017014967.3:c.3750G>C, XM_017014967.3:c.3750G>A, XM_017014967.2:c.3750G>T, XM_017014967.2:c.3750G>C, XM_017014967.2:c.3750G>A, XM_017014967.1:c.3750G>T, XM_017014967.1:c.3750G>C, XM_017014967.1:c.3750G>A, XM_017014968.3:c.3762G>T, XM_017014968.3:c.3762G>C, XM_017014968.3:c.3762G>A, XM_017014968.2:c.3762G>T, XM_017014968.2:c.3762G>C, XM_017014968.2:c.3762G>A, XM_017014968.1:c.3762G>T, XM_017014968.1:c.3762G>C, XM_017014968.1:c.3762G>A, XM_017014970.3:c.3759G>T, XM_017014970.3:c.3759G>C, XM_017014970.3:c.3759G>A, XM_017014970.2:c.3759G>T, XM_017014970.2:c.3759G>C, XM_017014970.2:c.3759G>A, XM_017014970.1:c.3759G>T, XM_017014970.1:c.3759G>C, XM_017014970.1:c.3759G>A, XM_017014969.3:c.3744G>T, XM_017014969.3:c.3744G>C, XM_017014969.3:c.3744G>A, XM_017014969.2:c.3744G>T, XM_017014969.2:c.3744G>C, XM_017014969.2:c.3744G>A, XM_017014969.1:c.3744G>T, XM_017014969.1:c.3744G>C, XM_017014969.1:c.3744G>A, XM_017014972.3:c.3735G>T, XM_017014972.3:c.3735G>C, XM_017014972.3:c.3735G>A, XM_017014972.2:c.3735G>T, XM_017014972.2:c.3735G>C, XM_017014972.2:c.3735G>A, XM_017014972.1:c.3735G>T, XM_017014972.1:c.3735G>C, XM_017014972.1:c.3735G>A, XM_017014971.3:c.3735G>T, XM_017014971.3:c.3735G>C, XM_017014971.3:c.3735G>A, XM_017014971.2:c.3735G>T, XM_017014971.2:c.3735G>C, XM_017014971.2:c.3735G>A, XM_017014971.1:c.3735G>T, XM_017014971.1:c.3735G>C, XM_017014971.1:c.3735G>A, XM_017014974.3:c.3732G>T, XM_017014974.3:c.3732G>C, XM_017014974.3:c.3732G>A, XM_017014974.2:c.3732G>T, XM_017014974.2:c.3732G>C, XM_017014974.2:c.3732G>A, XM_017014974.1:c.3732G>T, XM_017014974.1:c.3732G>C, XM_017014974.1:c.3732G>A, XM_017014977.3:c.3735G>T, XM_017014977.3:c.3735G>C, XM_017014977.3:c.3735G>A, XM_017014977.2:c.3735G>T, XM_017014977.2:c.3735G>C, XM_017014977.2:c.3735G>A, XM_017014977.1:c.3735G>T, XM_017014977.1:c.3735G>C, XM_017014977.1:c.3735G>A, XM_017014976.3:c.3762G>T, XM_017014976.3:c.3762G>C, XM_017014976.3:c.3762G>A, XM_017014976.2:c.3762G>T, XM_017014976.2:c.3762G>C, XM_017014976.2:c.3762G>A, XM_017014976.1:c.3762G>T, XM_017014976.1:c.3762G>C, XM_017014976.1:c.3762G>A, XM_017014978.3:c.3762G>T, XM_017014978.3:c.3762G>C, XM_017014978.3:c.3762G>A, XM_017014978.2:c.3762G>T, XM_017014978.2:c.3762G>C, XM_017014978.2:c.3762G>A, XM_017014978.1:c.3762G>T, XM_017014978.1:c.3762G>C, XM_017014978.1:c.3762G>A, XM_017014979.3:c.3759G>T, XM_017014979.3:c.3759G>C, XM_017014979.3:c.3759G>A, XM_017014979.2:c.3759G>T, XM_017014979.2:c.3759G>C, XM_017014979.2:c.3759G>A, XM_017014979.1:c.3759G>T, XM_017014979.1:c.3759G>C, XM_017014979.1:c.3759G>A, XM_017014961.3:c.3762G>T, XM_017014961.3:c.3762G>C, XM_017014961.3:c.3762G>A, XM_017014961.2:c.3762G>T, XM_017014961.2:c.3762G>C, XM_017014961.2:c.3762G>A, XM_017014961.1:c.3762G>T, XM_017014961.1:c.3762G>C, XM_017014961.1:c.3762G>A, XM_017014980.3:c.3732G>T, XM_017014980.3:c.3732G>C, XM_017014980.3:c.3732G>A, XM_017014980.2:c.3732G>T, XM_017014980.2:c.3732G>C, XM_017014980.2:c.3732G>A, XM_017014980.1:c.3732G>T, XM_017014980.1:c.3732G>C, XM_017014980.1:c.3732G>A, XM_017014982.3:c.2529G>T, XM_017014982.3:c.2529G>C, XM_017014982.3:c.2529G>A, XM_017014982.2:c.2529G>T, XM_017014982.2:c.2529G>C, XM_017014982.2:c.2529G>A, XM_017014982.1:c.2529G>T, XM_017014982.1:c.2529G>C, XM_017014982.1:c.2529G>A, XM_017014983.3:c.2526G>T, XM_017014983.3:c.2526G>C, XM_017014983.3:c.2526G>A, XM_017014983.2:c.2526G>T, XM_017014983.2:c.2526G>C, XM_017014983.2:c.2526G>A, XM_017014983.1:c.2526G>T, XM_017014983.1:c.2526G>C, XM_017014983.1:c.2526G>A, XM_024447625.2:c.3741G>T, XM_024447625.2:c.3741G>C, XM_024447625.2:c.3741G>A, XM_024447625.1:c.3741G>T, XM_024447625.1:c.3741G>C, XM_024447625.1:c.3741G>A, XM_047423641.1:c.3762G>T, XM_047423641.1:c.3762G>C, XM_047423641.1:c.3762G>A, XM_047423642.1:c.3759G>T, XM_047423642.1:c.3759G>C, XM_047423642.1:c.3759G>A, XM_047423644.1:c.3732G>T, XM_047423644.1:c.3732G>C, XM_047423644.1:c.3732G>A, XM_047423645.1:c.3720G>T, XM_047423645.1:c.3720G>C, XM_047423645.1:c.3720G>A, XM_047423647.1:c.3756G>T, XM_047423647.1:c.3756G>C, XM_047423647.1:c.3756G>A, XM_047423649.1:c.3690G>T, XM_047423649.1:c.3690G>C, XM_047423649.1:c.3690G>A, XM_047423651.1:c.3693G>T, XM_047423651.1:c.3693G>C, XM_047423651.1:c.3693G>A, XM_047423650.1:c.3735G>T, XM_047423650.1:c.3735G>C, XM_047423650.1:c.3735G>A, XM_047423652.1:c.3732G>T, XM_047423652.1:c.3732G>C, XM_047423652.1:c.3732G>A, XM_047423654.1:c.3729G>T, XM_047423654.1:c.3729G>C, XM_047423654.1:c.3729G>A, XM_047423653.1:c.3717G>T, XM_047423653.1:c.3717G>C, XM_047423653.1:c.3717G>A, XM_047423657.1:c.3717G>T, XM_047423657.1:c.3717G>C, XM_047423657.1:c.3717G>A, XM_047423643.1:c.3723G>T, XM_047423643.1:c.3723G>C, XM_047423643.1:c.3723G>A, XM_047423646.1:c.3717G>T, XM_047423646.1:c.3717G>C, XM_047423646.1:c.3717G>A, XM_047423648.1:c.3693G>T, XM_047423648.1:c.3693G>C, XM_047423648.1:c.3693G>A, XM_047423655.1:c.3723G>T, XM_047423655.1:c.3723G>C, XM_047423655.1:c.3723G>A, XM_047423656.1:c.3720G>T, XM_047423656.1:c.3720G>C, XM_047423656.1:c.3720G>A, XM_047423658.1:c.3696G>T, XM_047423658.1:c.3696G>C, XM_047423658.1:c.3696G>A, XM_047423659.1:c.3693G>T, XM_047423659.1:c.3693G>C, XM_047423659.1:c.3693G>A, XM_047423660.1:c.3690G>T, XM_047423660.1:c.3690G>C, XM_047423660.1:c.3690G>A, NP_002830.1:p.Met1253Ile, NP_002830.1:p.Met1253Ile, NP_002830.1:p.Met1253Ile, NP_569075.2:p.Met842Ile, NP_569075.2:p.Met842Ile, NP_569075.2:p.Met842Ile, NP_569076.2:p.Met842Ile, NP_569076.2:p.Met842Ile, NP_569076.2:p.Met842Ile, NP_569077.2:p.Met837Ile, NP_569077.2:p.Met837Ile, NP_569077.2:p.Met837Ile, NP_001164496.1:p.Met832Ile, NP_001164496.1:p.Met832Ile, NP_001164496.1:p.Met832Ile, NP_001035802.1:p.Met839Ile, NP_001035802.1:p.Met839Ile, NP_001035802.1:p.Met839Ile, NP_001364887.1:p.Met1254Ile, NP_001364887.1:p.Met1254Ile, NP_001364887.1:p.Met1254Ile, NP_001364987.1:p.Met1253Ile, NP_001364987.1:p.Met1253Ile, NP_001364987.1:p.Met1253Ile, NP_001364876.1:p.Met840Ile, NP_001364876.1:p.Met840Ile, NP_001364876.1:p.Met840Ile, NP_001364875.1:p.Met836Ile, NP_001364875.1:p.Met836Ile, NP_001364875.1:p.Met836Ile, XP_006716880.1:p.Met1252Ile, XP_006716880.1:p.Met1252Ile, XP_006716880.1:p.Met1252Ile, XP_006716888.1:p.Met1253Ile, XP_006716888.1:p.Met1253Ile, XP_006716888.1:p.Met1253Ile, XP_006716890.1:p.Met1230Ile, XP_006716890.1:p.Met1230Ile, XP_006716890.1:p.Met1230Ile, XP_006716886.1:p.Met1254Ile, XP_006716886.1:p.Met1254Ile, XP_006716886.1:p.Met1254Ile, XP_016870447.1:p.Met1254Ile, XP_016870447.1:p.Met1254Ile, XP_016870447.1:p.Met1254Ile, XP_016870454.1:p.Met1253Ile, XP_016870454.1:p.Met1253Ile, XP_016870454.1:p.Met1253Ile, XP_016870453.1:p.Met1253Ile, XP_016870453.1:p.Met1253Ile, XP_016870453.1:p.Met1253Ile, XP_016870452.1:p.Met1254Ile, XP_016870452.1:p.Met1254Ile, XP_016870452.1:p.Met1254Ile, XP_016870455.1:p.Met1251Ile, XP_016870455.1:p.Met1251Ile, XP_016870455.1:p.Met1251Ile, XP_016870456.1:p.Met1250Ile, XP_016870456.1:p.Met1250Ile, XP_016870456.1:p.Met1250Ile, XP_016870457.1:p.Met1254Ile, XP_016870457.1:p.Met1254Ile, XP_016870457.1:p.Met1254Ile, XP_016870459.1:p.Met1253Ile, XP_016870459.1:p.Met1253Ile, XP_016870459.1:p.Met1253Ile, XP_016870458.1:p.Met1248Ile, XP_016870458.1:p.Met1248Ile, XP_016870458.1:p.Met1248Ile, XP_016870461.1:p.Met1245Ile, XP_016870461.1:p.Met1245Ile, XP_016870461.1:p.Met1245Ile, XP_016870460.1:p.Met1245Ile, XP_016870460.1:p.Met1245Ile, XP_016870460.1:p.Met1245Ile, XP_016870463.1:p.Met1244Ile, XP_016870463.1:p.Met1244Ile, XP_016870463.1:p.Met1244Ile, XP_016870466.1:p.Met1245Ile, XP_016870466.1:p.Met1245Ile, XP_016870466.1:p.Met1245Ile, XP_016870465.1:p.Met1254Ile, XP_016870465.1:p.Met1254Ile, XP_016870465.1:p.Met1254Ile, XP_016870467.1:p.Met1254Ile, XP_016870467.1:p.Met1254Ile, XP_016870467.1:p.Met1254Ile, XP_016870468.1:p.Met1253Ile, XP_016870468.1:p.Met1253Ile, XP_016870468.1:p.Met1253Ile, XP_016870450.1:p.Met1254Ile, XP_016870450.1:p.Met1254Ile, XP_016870450.1:p.Met1254Ile, XP_016870469.1:p.Met1244Ile, XP_016870469.1:p.Met1244Ile, XP_016870469.1:p.Met1244Ile, XP_016870471.1:p.Met843Ile, XP_016870471.1:p.Met843Ile, XP_016870471.1:p.Met843Ile, XP_016870472.1:p.Met842Ile, XP_016870472.1:p.Met842Ile, XP_016870472.1:p.Met842Ile, XP_024303393.1:p.Met1247Ile, XP_024303393.1:p.Met1247Ile, XP_024303393.1:p.Met1247Ile, XP_047279597.1:p.Met1254Ile, XP_047279597.1:p.Met1254Ile, XP_047279597.1:p.Met1254Ile, XP_047279598.1:p.Met1253Ile, XP_047279598.1:p.Met1253Ile, XP_047279598.1:p.Met1253Ile, XP_047279600.1:p.Met1244Ile, XP_047279600.1:p.Met1244Ile, XP_047279600.1:p.Met1244Ile, XP_047279601.1:p.Met1240Ile, XP_047279601.1:p.Met1240Ile, XP_047279601.1:p.Met1240Ile, XP_047279603.1:p.Met1252Ile, XP_047279603.1:p.Met1252Ile, XP_047279603.1:p.Met1252Ile, XP_047279605.1:p.Met1230Ile, XP_047279605.1:p.Met1230Ile, XP_047279605.1:p.Met1230Ile, XP_047279607.1:p.Met1231Ile, XP_047279607.1:p.Met1231Ile, XP_047279607.1:p.Met1231Ile, XP_047279606.1:p.Met1245Ile, XP_047279606.1:p.Met1245Ile, XP_047279606.1:p.Met1245Ile, XP_047279608.1:p.Met1244Ile, XP_047279608.1:p.Met1244Ile, XP_047279608.1:p.Met1244Ile, XP_047279610.1:p.Met1243Ile, XP_047279610.1:p.Met1243Ile, XP_047279610.1:p.Met1243Ile, XP_047279609.1:p.Met1239Ile, XP_047279609.1:p.Met1239Ile, XP_047279609.1:p.Met1239Ile, XP_047279613.1:p.Met1239Ile, XP_047279613.1:p.Met1239Ile, XP_047279613.1:p.Met1239Ile, XP_047279599.1:p.Met1241Ile, XP_047279599.1:p.Met1241Ile, XP_047279599.1:p.Met1241Ile, XP_047279602.1:p.Met1239Ile, XP_047279602.1:p.Met1239Ile, XP_047279602.1:p.Met1239Ile, XP_047279604.1:p.Met1231Ile, XP_047279604.1:p.Met1231Ile, XP_047279604.1:p.Met1231Ile, XP_047279611.1:p.Met1241Ile, XP_047279611.1:p.Met1241Ile, XP_047279611.1:p.Met1241Ile, XP_047279612.1:p.Met1240Ile, XP_047279612.1:p.Met1240Ile, XP_047279612.1:p.Met1240Ile, XP_047279614.1:p.Met1232Ile, XP_047279614.1:p.Met1232Ile, XP_047279614.1:p.Met1232Ile, XP_047279615.1:p.Met1231Ile, XP_047279615.1:p.Met1231Ile, XP_047279615.1:p.Met1231Ile, XP_047279616.1:p.Met1230Ile, XP_047279616.1:p.Met1230Ile, XP_047279616.1:p.Met1230Ile

      3.

      rs1489629132 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        9:8449789 (GRCh38)
        9:8449789 (GRCh37)
        Canonical SPDI:
        NC_000009.12:8449788:C:T
        Gene:
        PTPRD (Varview)
        Functional Consequence:
        coding_sequence_variant,synonymous_variant
        Validated:
        by cluster
        HGVS:
        NC_000009.12:g.8449789C>T, NC_000009.11:g.8449789C>T, NG_033963.1:g.2167935G>A, NM_002839.4:c.3924G>A, NM_002839.3:c.3924G>A, NM_130391.4:c.2703G>A, NM_130391.3:c.2703G>A, NM_130392.3:c.2706G>A, NM_130393.3:c.2676G>A, NM_001171025.2:c.2661G>A, NM_001171025.1:c.2661G>A, NM_001040712.2:c.2694G>A, NM_001377958.1:c.3942G>A, NM_001378058.1:c.3939G>A, NM_001377947.1:c.2685G>A, NM_001377946.1:c.2673G>A, XM_006716817.5:c.3933G>A, XM_006716817.4:c.3933G>A, XM_006716817.3:c.3933G>A, XM_006716817.2:c.3933G>A, XM_006716817.1:c.3933G>A, XM_006716825.5:c.3924G>A, XM_006716825.4:c.3924G>A, XM_006716825.3:c.3924G>A, XM_006716825.2:c.3924G>A, XM_006716825.1:c.3924G>A, XM_006716827.5:c.3867G>A, XM_006716827.4:c.3867G>A, XM_006716827.3:c.3867G>A, XM_006716827.2:c.3867G>A, XM_006716827.1:c.3867G>A, XM_006716823.4:c.3927G>A, XM_006716823.3:c.3927G>A, XM_006716823.2:c.3927G>A, XM_006716823.1:c.3927G>A, XM_017014958.3:c.3942G>A, XM_017014958.2:c.3942G>A, XM_017014958.1:c.3942G>A, XM_017014965.3:c.3939G>A, XM_017014965.2:c.3939G>A, XM_017014965.1:c.3939G>A, XM_017014964.3:c.3939G>A, XM_017014964.2:c.3939G>A, XM_017014964.1:c.3939G>A, XM_017014963.3:c.3939G>A, XM_017014963.2:c.3939G>A, XM_017014963.1:c.3939G>A, XM_017014966.3:c.3933G>A, XM_017014966.2:c.3933G>A, XM_017014966.1:c.3933G>A, XM_017014967.3:c.3930G>A, XM_017014967.2:c.3930G>A, XM_017014967.1:c.3930G>A, XM_017014968.3:c.3927G>A, XM_017014968.2:c.3927G>A, XM_017014968.1:c.3927G>A, XM_017014970.3:c.3924G>A, XM_017014970.2:c.3924G>A, XM_017014970.1:c.3924G>A, XM_017014969.3:c.3924G>A, XM_017014969.2:c.3924G>A, XM_017014969.1:c.3924G>A, XM_017014972.3:c.3915G>A, XM_017014972.2:c.3915G>A, XM_017014972.1:c.3915G>A, XM_017014971.3:c.3915G>A, XM_017014971.2:c.3915G>A, XM_017014971.1:c.3915G>A, XM_017014974.3:c.3912G>A, XM_017014974.2:c.3912G>A, XM_017014974.1:c.3912G>A, XM_017014977.3:c.3900G>A, XM_017014977.2:c.3900G>A, XM_017014977.1:c.3900G>A, XM_017014976.3:c.3942G>A, XM_017014976.2:c.3942G>A, XM_017014976.1:c.3942G>A, XM_017014978.3:c.3939G>A, XM_017014978.2:c.3939G>A, XM_017014978.1:c.3939G>A, XM_017014979.3:c.3936G>A, XM_017014979.2:c.3936G>A, XM_017014979.1:c.3936G>A, XM_017014961.3:c.3942G>A, XM_017014961.2:c.3942G>A, XM_017014961.1:c.3942G>A, XM_017014980.3:c.3897G>A, XM_017014980.2:c.3897G>A, XM_017014980.1:c.3897G>A, XM_017014982.3:c.2709G>A, XM_017014982.2:c.2709G>A, XM_017014982.1:c.2709G>A, XM_017014983.3:c.2706G>A, XM_017014983.2:c.2706G>A, XM_017014983.1:c.2706G>A, XM_024447625.2:c.3921G>A, XM_024447625.1:c.3921G>A, XM_047423641.1:c.3942G>A, XM_047423642.1:c.3924G>A, XM_047423644.1:c.3897G>A, XM_047423645.1:c.3885G>A, XM_047423647.1:c.3921G>A, XM_047423649.1:c.3867G>A, XM_047423651.1:c.3858G>A, XM_047423650.1:c.3900G>A, XM_047423652.1:c.3897G>A, XM_047423654.1:c.3894G>A, XM_047423653.1:c.3894G>A, XM_047423657.1:c.3882G>A, XM_047423643.1:c.3903G>A, XM_047423646.1:c.3882G>A, XM_047423648.1:c.3873G>A, XM_047423655.1:c.3888G>A, XM_047423656.1:c.3885G>A, XM_047423658.1:c.3861G>A, XM_047423659.1:c.3858G>A, XM_047423660.1:c.3855G>A

        4.

        rs1489169166 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>G,T [Show Flanks]
          Chromosome:
          9:8460454 (GRCh38)
          9:8460454 (GRCh37)
          Canonical SPDI:
          NC_000009.12:8460453:C:G,NC_000009.12:8460453:C:T
          Gene:
          PTPRD (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency,by cluster
          MAF:
          T=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000009.12:g.8460454C>G, NC_000009.12:g.8460454C>T, NC_000009.11:g.8460454C>G, NC_000009.11:g.8460454C>T, NG_033963.1:g.2157270G>C, NG_033963.1:g.2157270G>A, NM_002839.4:c.3832G>C, NM_002839.4:c.3832G>A, NM_002839.3:c.3832G>C, NM_002839.3:c.3832G>A, NM_130391.4:c.2599G>C, NM_130391.4:c.2599G>A, NM_130391.3:c.2599G>C, NM_130391.3:c.2599G>A, NM_130392.3:c.2599G>C, NM_130392.3:c.2599G>A, NM_130393.3:c.2584G>C, NM_130393.3:c.2584G>A, NM_001171025.2:c.2569G>C, NM_001171025.2:c.2569G>A, NM_001171025.1:c.2569G>C, NM_001171025.1:c.2569G>A, NM_001040712.2:c.2590G>C, NM_001040712.2:c.2590G>A, NM_001377958.1:c.3835G>C, NM_001377958.1:c.3835G>A, NM_001378058.1:c.3832G>C, NM_001378058.1:c.3832G>A, NM_001377947.1:c.2593G>C, NM_001377947.1:c.2593G>A, NM_001377946.1:c.2581G>C, NM_001377946.1:c.2581G>A, XM_006716817.5:c.3829G>C, XM_006716817.5:c.3829G>A, XM_006716817.4:c.3829G>C, XM_006716817.4:c.3829G>A, XM_006716817.3:c.3829G>C, XM_006716817.3:c.3829G>A, XM_006716817.2:c.3829G>C, XM_006716817.2:c.3829G>A, XM_006716817.1:c.3829G>C, XM_006716817.1:c.3829G>A, XM_006716825.5:c.3832G>C, XM_006716825.5:c.3832G>A, XM_006716825.4:c.3832G>C, XM_006716825.4:c.3832G>A, XM_006716825.3:c.3832G>C, XM_006716825.3:c.3832G>A, XM_006716825.2:c.3832G>C, XM_006716825.2:c.3832G>A, XM_006716825.1:c.3832G>C, XM_006716825.1:c.3832G>A, XM_006716827.5:c.3763G>C, XM_006716827.5:c.3763G>A, XM_006716827.4:c.3763G>C, XM_006716827.4:c.3763G>A, XM_006716827.3:c.3763G>C, XM_006716827.3:c.3763G>A, XM_006716827.2:c.3763G>C, XM_006716827.2:c.3763G>A, XM_006716827.1:c.3763G>C, XM_006716827.1:c.3763G>A, XM_006716823.4:c.3835G>C, XM_006716823.4:c.3835G>A, XM_006716823.3:c.3835G>C, XM_006716823.3:c.3835G>A, XM_006716823.2:c.3835G>C, XM_006716823.2:c.3835G>A, XM_006716823.1:c.3835G>C, XM_006716823.1:c.3835G>A, XM_017014958.3:c.3835G>C, XM_017014958.3:c.3835G>A, XM_017014958.2:c.3835G>C, XM_017014958.2:c.3835G>A, XM_017014958.1:c.3835G>C, XM_017014958.1:c.3835G>A, XM_017014965.3:c.3832G>C, XM_017014965.3:c.3832G>A, XM_017014965.2:c.3832G>C, XM_017014965.2:c.3832G>A, XM_017014965.1:c.3832G>C, XM_017014965.1:c.3832G>A, XM_017014964.3:c.3832G>C, XM_017014964.3:c.3832G>A, XM_017014964.2:c.3832G>C, XM_017014964.2:c.3832G>A, XM_017014964.1:c.3832G>C, XM_017014964.1:c.3832G>A, XM_017014963.3:c.3835G>C, XM_017014963.3:c.3835G>A, XM_017014963.2:c.3835G>C, XM_017014963.2:c.3835G>A, XM_017014963.1:c.3835G>C, XM_017014963.1:c.3835G>A, XM_017014966.3:c.3826G>C, XM_017014966.3:c.3826G>A, XM_017014966.2:c.3826G>C, XM_017014966.2:c.3826G>A, XM_017014966.1:c.3826G>C, XM_017014966.1:c.3826G>A, XM_017014967.3:c.3823G>C, XM_017014967.3:c.3823G>A, XM_017014967.2:c.3823G>C, XM_017014967.2:c.3823G>A, XM_017014967.1:c.3823G>C, XM_017014967.1:c.3823G>A, XM_017014968.3:c.3835G>C, XM_017014968.3:c.3835G>A, XM_017014968.2:c.3835G>C, XM_017014968.2:c.3835G>A, XM_017014968.1:c.3835G>C, XM_017014968.1:c.3835G>A, XM_017014970.3:c.3832G>C, XM_017014970.3:c.3832G>A, XM_017014970.2:c.3832G>C, XM_017014970.2:c.3832G>A, XM_017014970.1:c.3832G>C, XM_017014970.1:c.3832G>A, XM_017014969.3:c.3817G>C, XM_017014969.3:c.3817G>A, XM_017014969.2:c.3817G>C, XM_017014969.2:c.3817G>A, XM_017014969.1:c.3817G>C, XM_017014969.1:c.3817G>A, XM_017014972.3:c.3808G>C, XM_017014972.3:c.3808G>A, XM_017014972.2:c.3808G>C, XM_017014972.2:c.3808G>A, XM_017014972.1:c.3808G>C, XM_017014972.1:c.3808G>A, XM_017014971.3:c.3808G>C, XM_017014971.3:c.3808G>A, XM_017014971.2:c.3808G>C, XM_017014971.2:c.3808G>A, XM_017014971.1:c.3808G>C, XM_017014971.1:c.3808G>A, XM_017014974.3:c.3805G>C, XM_017014974.3:c.3805G>A, XM_017014974.2:c.3805G>C, XM_017014974.2:c.3805G>A, XM_017014974.1:c.3805G>C, XM_017014974.1:c.3805G>A, XM_017014977.3:c.3808G>C, XM_017014977.3:c.3808G>A, XM_017014977.2:c.3808G>C, XM_017014977.2:c.3808G>A, XM_017014977.1:c.3808G>C, XM_017014977.1:c.3808G>A, XM_017014976.3:c.3835G>C, XM_017014976.3:c.3835G>A, XM_017014976.2:c.3835G>C, XM_017014976.2:c.3835G>A, XM_017014976.1:c.3835G>C, XM_017014976.1:c.3835G>A, XM_017014978.3:c.3835G>C, XM_017014978.3:c.3835G>A, XM_017014978.2:c.3835G>C, XM_017014978.2:c.3835G>A, XM_017014978.1:c.3835G>C, XM_017014978.1:c.3835G>A, XM_017014979.3:c.3832G>C, XM_017014979.3:c.3832G>A, XM_017014979.2:c.3832G>C, XM_017014979.2:c.3832G>A, XM_017014979.1:c.3832G>C, XM_017014979.1:c.3832G>A, XM_017014961.3:c.3835G>C, XM_017014961.3:c.3835G>A, XM_017014961.2:c.3835G>C, XM_017014961.2:c.3835G>A, XM_017014961.1:c.3835G>C, XM_017014961.1:c.3835G>A, XM_017014980.3:c.3805G>C, XM_017014980.3:c.3805G>A, XM_017014980.2:c.3805G>C, XM_017014980.2:c.3805G>A, XM_017014980.1:c.3805G>C, XM_017014980.1:c.3805G>A, XM_017014982.3:c.2602G>C, XM_017014982.3:c.2602G>A, XM_017014982.2:c.2602G>C, XM_017014982.2:c.2602G>A, XM_017014982.1:c.2602G>C, XM_017014982.1:c.2602G>A, XM_017014983.3:c.2599G>C, XM_017014983.3:c.2599G>A, XM_017014983.2:c.2599G>C, XM_017014983.2:c.2599G>A, XM_017014983.1:c.2599G>C, XM_017014983.1:c.2599G>A, XM_024447625.2:c.3814G>C, XM_024447625.2:c.3814G>A, XM_024447625.1:c.3814G>C, XM_024447625.1:c.3814G>A, XM_047423641.1:c.3835G>C, XM_047423641.1:c.3835G>A, XM_047423642.1:c.3832G>C, XM_047423642.1:c.3832G>A, XM_047423644.1:c.3805G>C, XM_047423644.1:c.3805G>A, XM_047423645.1:c.3793G>C, XM_047423645.1:c.3793G>A, XM_047423647.1:c.3829G>C, XM_047423647.1:c.3829G>A, XM_047423649.1:c.3763G>C, XM_047423649.1:c.3763G>A, XM_047423651.1:c.3766G>C, XM_047423651.1:c.3766G>A, XM_047423650.1:c.3808G>C, XM_047423650.1:c.3808G>A, XM_047423652.1:c.3805G>C, XM_047423652.1:c.3805G>A, XM_047423654.1:c.3802G>C, XM_047423654.1:c.3802G>A, XM_047423653.1:c.3790G>C, XM_047423653.1:c.3790G>A, XM_047423657.1:c.3790G>C, XM_047423657.1:c.3790G>A, XM_047423643.1:c.3796G>C, XM_047423643.1:c.3796G>A, XM_047423646.1:c.3790G>C, XM_047423646.1:c.3790G>A, XM_047423648.1:c.3766G>C, XM_047423648.1:c.3766G>A, XM_047423655.1:c.3796G>C, XM_047423655.1:c.3796G>A, XM_047423656.1:c.3793G>C, XM_047423656.1:c.3793G>A, XM_047423658.1:c.3769G>C, XM_047423658.1:c.3769G>A, XM_047423659.1:c.3766G>C, XM_047423659.1:c.3766G>A, XM_047423660.1:c.3763G>C, XM_047423660.1:c.3763G>A, NP_002830.1:p.Val1278Leu, NP_002830.1:p.Val1278Ile, NP_569075.2:p.Val867Leu, NP_569075.2:p.Val867Ile, NP_569076.2:p.Val867Leu, NP_569076.2:p.Val867Ile, NP_569077.2:p.Val862Leu, NP_569077.2:p.Val862Ile, NP_001164496.1:p.Val857Leu, NP_001164496.1:p.Val857Ile, NP_001035802.1:p.Val864Leu, NP_001035802.1:p.Val864Ile, NP_001364887.1:p.Val1279Leu, NP_001364887.1:p.Val1279Ile, NP_001364987.1:p.Val1278Leu, NP_001364987.1:p.Val1278Ile, NP_001364876.1:p.Val865Leu, NP_001364876.1:p.Val865Ile, NP_001364875.1:p.Val861Leu, NP_001364875.1:p.Val861Ile, XP_006716880.1:p.Val1277Leu, XP_006716880.1:p.Val1277Ile, XP_006716888.1:p.Val1278Leu, XP_006716888.1:p.Val1278Ile, XP_006716890.1:p.Val1255Leu, XP_006716890.1:p.Val1255Ile, XP_006716886.1:p.Val1279Leu, XP_006716886.1:p.Val1279Ile, XP_016870447.1:p.Val1279Leu, XP_016870447.1:p.Val1279Ile, XP_016870454.1:p.Val1278Leu, XP_016870454.1:p.Val1278Ile, XP_016870453.1:p.Val1278Leu, XP_016870453.1:p.Val1278Ile, XP_016870452.1:p.Val1279Leu, XP_016870452.1:p.Val1279Ile, XP_016870455.1:p.Val1276Leu, XP_016870455.1:p.Val1276Ile, XP_016870456.1:p.Val1275Leu, XP_016870456.1:p.Val1275Ile, XP_016870457.1:p.Val1279Leu, XP_016870457.1:p.Val1279Ile, XP_016870459.1:p.Val1278Leu, XP_016870459.1:p.Val1278Ile, XP_016870458.1:p.Val1273Leu, XP_016870458.1:p.Val1273Ile, XP_016870461.1:p.Val1270Leu, XP_016870461.1:p.Val1270Ile, XP_016870460.1:p.Val1270Leu, XP_016870460.1:p.Val1270Ile, XP_016870463.1:p.Val1269Leu, XP_016870463.1:p.Val1269Ile, XP_016870466.1:p.Val1270Leu, XP_016870466.1:p.Val1270Ile, XP_016870465.1:p.Val1279Leu, XP_016870465.1:p.Val1279Ile, XP_016870467.1:p.Val1279Leu, XP_016870467.1:p.Val1279Ile, XP_016870468.1:p.Val1278Leu, XP_016870468.1:p.Val1278Ile, XP_016870450.1:p.Val1279Leu, XP_016870450.1:p.Val1279Ile, XP_016870469.1:p.Val1269Leu, XP_016870469.1:p.Val1269Ile, XP_016870471.1:p.Val868Leu, XP_016870471.1:p.Val868Ile, XP_016870472.1:p.Val867Leu, XP_016870472.1:p.Val867Ile, XP_024303393.1:p.Val1272Leu, XP_024303393.1:p.Val1272Ile, XP_047279597.1:p.Val1279Leu, XP_047279597.1:p.Val1279Ile, XP_047279598.1:p.Val1278Leu, XP_047279598.1:p.Val1278Ile, XP_047279600.1:p.Val1269Leu, XP_047279600.1:p.Val1269Ile, XP_047279601.1:p.Val1265Leu, XP_047279601.1:p.Val1265Ile, XP_047279603.1:p.Val1277Leu, XP_047279603.1:p.Val1277Ile, XP_047279605.1:p.Val1255Leu, XP_047279605.1:p.Val1255Ile, XP_047279607.1:p.Val1256Leu, XP_047279607.1:p.Val1256Ile, XP_047279606.1:p.Val1270Leu, XP_047279606.1:p.Val1270Ile, XP_047279608.1:p.Val1269Leu, XP_047279608.1:p.Val1269Ile, XP_047279610.1:p.Val1268Leu, XP_047279610.1:p.Val1268Ile, XP_047279609.1:p.Val1264Leu, XP_047279609.1:p.Val1264Ile, XP_047279613.1:p.Val1264Leu, XP_047279613.1:p.Val1264Ile, XP_047279599.1:p.Val1266Leu, XP_047279599.1:p.Val1266Ile, XP_047279602.1:p.Val1264Leu, XP_047279602.1:p.Val1264Ile, XP_047279604.1:p.Val1256Leu, XP_047279604.1:p.Val1256Ile, XP_047279611.1:p.Val1266Leu, XP_047279611.1:p.Val1266Ile, XP_047279612.1:p.Val1265Leu, XP_047279612.1:p.Val1265Ile, XP_047279614.1:p.Val1257Leu, XP_047279614.1:p.Val1257Ile, XP_047279615.1:p.Val1256Leu, XP_047279615.1:p.Val1256Ile, XP_047279616.1:p.Val1255Leu, XP_047279616.1:p.Val1255Ile

          5.

          rs1488587783 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G,T [Show Flanks]
            Chromosome:
            9:8471003 (GRCh38)
            9:8471003 (GRCh37)
            Canonical SPDI:
            NC_000009.12:8471002:A:G,NC_000009.12:8471002:A:T
            Gene:
            PTPRD (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant,missense_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0./0 (ALFA)
            G=0.000008/2 (TOPMED)
            HGVS:
            NC_000009.12:g.8471003A>G, NC_000009.12:g.8471003A>T, NC_000009.11:g.8471003A>G, NC_000009.11:g.8471003A>T, NG_033963.1:g.2146721T>C, NG_033963.1:g.2146721T>A, NM_002839.4:c.3496T>C, NM_002839.4:c.3496T>A, NM_002839.3:c.3496T>C, NM_002839.3:c.3496T>A, NM_130391.4:c.2263T>C, NM_130391.4:c.2263T>A, NM_130391.3:c.2263T>C, NM_130391.3:c.2263T>A, NM_130392.3:c.2263T>C, NM_130392.3:c.2263T>A, NM_130393.3:c.2248T>C, NM_130393.3:c.2248T>A, NM_001171025.2:c.2233T>C, NM_001171025.2:c.2233T>A, NM_001171025.1:c.2233T>C, NM_001171025.1:c.2233T>A, NM_001040712.2:c.2254T>C, NM_001040712.2:c.2254T>A, NM_001377958.1:c.3499T>C, NM_001377958.1:c.3499T>A, NM_001378058.1:c.3496T>C, NM_001378058.1:c.3496T>A, NM_001377947.1:c.2257T>C, NM_001377947.1:c.2257T>A, NM_001377946.1:c.2245T>C, NM_001377946.1:c.2245T>A, XM_006716817.5:c.3496T>C, XM_006716817.5:c.3496T>A, XM_006716817.4:c.3496T>C, XM_006716817.4:c.3496T>A, XM_006716817.3:c.3496T>C, XM_006716817.3:c.3496T>A, XM_006716817.2:c.3496T>C, XM_006716817.2:c.3496T>A, XM_006716817.1:c.3496T>C, XM_006716817.1:c.3496T>A, XM_006716825.5:c.3499T>C, XM_006716825.5:c.3499T>A, XM_006716825.4:c.3499T>C, XM_006716825.4:c.3499T>A, XM_006716825.3:c.3499T>C, XM_006716825.3:c.3499T>A, XM_006716825.2:c.3499T>C, XM_006716825.2:c.3499T>A, XM_006716825.1:c.3499T>C, XM_006716825.1:c.3499T>A, XM_006716827.5:c.3430T>C, XM_006716827.5:c.3430T>A, XM_006716827.4:c.3430T>C, XM_006716827.4:c.3430T>A, XM_006716827.3:c.3430T>C, XM_006716827.3:c.3430T>A, XM_006716827.2:c.3430T>C, XM_006716827.2:c.3430T>A, XM_006716827.1:c.3430T>C, XM_006716827.1:c.3430T>A, XM_006716823.4:c.3499T>C, XM_006716823.4:c.3499T>A, XM_006716823.3:c.3499T>C, XM_006716823.3:c.3499T>A, XM_006716823.2:c.3499T>C, XM_006716823.2:c.3499T>A, XM_006716823.1:c.3499T>C, XM_006716823.1:c.3499T>A, XM_017014958.3:c.3499T>C, XM_017014958.3:c.3499T>A, XM_017014958.2:c.3499T>C, XM_017014958.2:c.3499T>A, XM_017014958.1:c.3499T>C, XM_017014958.1:c.3499T>A, XM_017014965.3:c.3499T>C, XM_017014965.3:c.3499T>A, XM_017014965.2:c.3499T>C, XM_017014965.2:c.3499T>A, XM_017014965.1:c.3499T>C, XM_017014965.1:c.3499T>A, XM_017014964.3:c.3496T>C, XM_017014964.3:c.3496T>A, XM_017014964.2:c.3496T>C, XM_017014964.2:c.3496T>A, XM_017014964.1:c.3496T>C, XM_017014964.1:c.3496T>A, XM_017014963.3:c.3499T>C, XM_017014963.3:c.3499T>A, XM_017014963.2:c.3499T>C, XM_017014963.2:c.3499T>A, XM_017014963.1:c.3499T>C, XM_017014963.1:c.3499T>A, XM_017014966.3:c.3490T>C, XM_017014966.3:c.3490T>A, XM_017014966.2:c.3490T>C, XM_017014966.2:c.3490T>A, XM_017014966.1:c.3490T>C, XM_017014966.1:c.3490T>A, XM_017014967.3:c.3487T>C, XM_017014967.3:c.3487T>A, XM_017014967.2:c.3487T>C, XM_017014967.2:c.3487T>A, XM_017014967.1:c.3487T>C, XM_017014967.1:c.3487T>A, XM_017014968.3:c.3499T>C, XM_017014968.3:c.3499T>A, XM_017014968.2:c.3499T>C, XM_017014968.2:c.3499T>A, XM_017014968.1:c.3499T>C, XM_017014968.1:c.3499T>A, XM_017014970.3:c.3499T>C, XM_017014970.3:c.3499T>A, XM_017014970.2:c.3499T>C, XM_017014970.2:c.3499T>A, XM_017014970.1:c.3499T>C, XM_017014970.1:c.3499T>A, XM_017014969.3:c.3481T>C, XM_017014969.3:c.3481T>A, XM_017014969.2:c.3481T>C, XM_017014969.2:c.3481T>A, XM_017014969.1:c.3481T>C, XM_017014969.1:c.3481T>A, XM_017014972.3:c.3472T>C, XM_017014972.3:c.3472T>A, XM_017014972.2:c.3472T>C, XM_017014972.2:c.3472T>A, XM_017014972.1:c.3472T>C, XM_017014972.1:c.3472T>A, XM_017014971.3:c.3472T>C, XM_017014971.3:c.3472T>A, XM_017014971.2:c.3472T>C, XM_017014971.2:c.3472T>A, XM_017014971.1:c.3472T>C, XM_017014971.1:c.3472T>A, XM_017014974.3:c.3469T>C, XM_017014974.3:c.3469T>A, XM_017014974.2:c.3469T>C, XM_017014974.2:c.3469T>A, XM_017014974.1:c.3469T>C, XM_017014974.1:c.3469T>A, XM_017014977.3:c.3472T>C, XM_017014977.3:c.3472T>A, XM_017014977.2:c.3472T>C, XM_017014977.2:c.3472T>A, XM_017014977.1:c.3472T>C, XM_017014977.1:c.3472T>A, XM_017014976.3:c.3499T>C, XM_017014976.3:c.3499T>A, XM_017014976.2:c.3499T>C, XM_017014976.2:c.3499T>A, XM_017014976.1:c.3499T>C, XM_017014976.1:c.3499T>A, XM_017014978.3:c.3499T>C, XM_017014978.3:c.3499T>A, XM_017014978.2:c.3499T>C, XM_017014978.2:c.3499T>A, XM_017014978.1:c.3499T>C, XM_017014978.1:c.3499T>A, XM_017014979.3:c.3499T>C, XM_017014979.3:c.3499T>A, XM_017014979.2:c.3499T>C, XM_017014979.2:c.3499T>A, XM_017014979.1:c.3499T>C, XM_017014979.1:c.3499T>A, XM_017014961.3:c.3499T>C, XM_017014961.3:c.3499T>A, XM_017014961.2:c.3499T>C, XM_017014961.2:c.3499T>A, XM_017014961.1:c.3499T>C, XM_017014961.1:c.3499T>A, XM_017014980.3:c.3469T>C, XM_017014980.3:c.3469T>A, XM_017014980.2:c.3469T>C, XM_017014980.2:c.3469T>A, XM_017014980.1:c.3469T>C, XM_017014980.1:c.3469T>A, XM_017014982.3:c.2266T>C, XM_017014982.3:c.2266T>A, XM_017014982.2:c.2266T>C, XM_017014982.2:c.2266T>A, XM_017014982.1:c.2266T>C, XM_017014982.1:c.2266T>A, XM_017014983.3:c.2263T>C, XM_017014983.3:c.2263T>A, XM_017014983.2:c.2263T>C, XM_017014983.2:c.2263T>A, XM_017014983.1:c.2263T>C, XM_017014983.1:c.2263T>A, XM_024447625.2:c.3478T>C, XM_024447625.2:c.3478T>A, XM_024447625.1:c.3478T>C, XM_024447625.1:c.3478T>A, XM_047423641.1:c.3499T>C, XM_047423641.1:c.3499T>A, XM_047423642.1:c.3496T>C, XM_047423642.1:c.3496T>A, XM_047423644.1:c.3469T>C, XM_047423644.1:c.3469T>A, XM_047423645.1:c.3457T>C, XM_047423645.1:c.3457T>A, XM_047423647.1:c.3496T>C, XM_047423647.1:c.3496T>A, XM_047423649.1:c.3430T>C, XM_047423649.1:c.3430T>A, XM_047423651.1:c.3430T>C, XM_047423651.1:c.3430T>A, XM_047423650.1:c.3472T>C, XM_047423650.1:c.3472T>A, XM_047423652.1:c.3472T>C, XM_047423652.1:c.3472T>A, XM_047423654.1:c.3469T>C, XM_047423654.1:c.3469T>A, XM_047423653.1:c.3457T>C, XM_047423653.1:c.3457T>A, XM_047423657.1:c.3457T>C, XM_047423657.1:c.3457T>A, XM_047423643.1:c.3460T>C, XM_047423643.1:c.3460T>A, XM_047423646.1:c.3457T>C, XM_047423646.1:c.3457T>A, XM_047423648.1:c.3430T>C, XM_047423648.1:c.3430T>A, XM_047423655.1:c.3460T>C, XM_047423655.1:c.3460T>A, XM_047423656.1:c.3457T>C, XM_047423656.1:c.3457T>A, XM_047423658.1:c.3433T>C, XM_047423658.1:c.3433T>A, XM_047423659.1:c.3430T>C, XM_047423659.1:c.3430T>A, XM_047423660.1:c.3430T>C, XM_047423660.1:c.3430T>A, NP_002830.1:p.Leu1166Ile, NP_569075.2:p.Leu755Ile, NP_569076.2:p.Leu755Ile, NP_569077.2:p.Leu750Ile, NP_001164496.1:p.Leu745Ile, NP_001035802.1:p.Leu752Ile, NP_001364887.1:p.Leu1167Ile, NP_001364987.1:p.Leu1166Ile, NP_001364876.1:p.Leu753Ile, NP_001364875.1:p.Leu749Ile, XP_006716880.1:p.Leu1166Ile, XP_006716888.1:p.Leu1167Ile, XP_006716890.1:p.Leu1144Ile, XP_006716886.1:p.Leu1167Ile, XP_016870447.1:p.Leu1167Ile, XP_016870454.1:p.Leu1167Ile, XP_016870453.1:p.Leu1166Ile, XP_016870452.1:p.Leu1167Ile, XP_016870455.1:p.Leu1164Ile, XP_016870456.1:p.Leu1163Ile, XP_016870457.1:p.Leu1167Ile, XP_016870459.1:p.Leu1167Ile, XP_016870458.1:p.Leu1161Ile, XP_016870461.1:p.Leu1158Ile, XP_016870460.1:p.Leu1158Ile, XP_016870463.1:p.Leu1157Ile, XP_016870466.1:p.Leu1158Ile, XP_016870465.1:p.Leu1167Ile, XP_016870467.1:p.Leu1167Ile, XP_016870468.1:p.Leu1167Ile, XP_016870450.1:p.Leu1167Ile, XP_016870469.1:p.Leu1157Ile, XP_016870471.1:p.Leu756Ile, XP_016870472.1:p.Leu755Ile, XP_024303393.1:p.Leu1160Ile, XP_047279597.1:p.Leu1167Ile, XP_047279598.1:p.Leu1166Ile, XP_047279600.1:p.Leu1157Ile, XP_047279601.1:p.Leu1153Ile, XP_047279603.1:p.Leu1166Ile, XP_047279605.1:p.Leu1144Ile, XP_047279607.1:p.Leu1144Ile, XP_047279606.1:p.Leu1158Ile, XP_047279608.1:p.Leu1158Ile, XP_047279610.1:p.Leu1157Ile, XP_047279609.1:p.Leu1153Ile, XP_047279613.1:p.Leu1153Ile, XP_047279599.1:p.Leu1154Ile, XP_047279602.1:p.Leu1153Ile, XP_047279604.1:p.Leu1144Ile, XP_047279611.1:p.Leu1154Ile, XP_047279612.1:p.Leu1153Ile, XP_047279614.1:p.Leu1145Ile, XP_047279615.1:p.Leu1144Ile, XP_047279616.1:p.Leu1144Ile

            6.

            rs1488445985 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>A,C [Show Flanks]
              Chromosome:
              9:8518103 (GRCh38)
              9:8518103 (GRCh37)
              Canonical SPDI:
              NC_000009.12:8518102:T:A,NC_000009.12:8518102:T:C
              Gene:
              PTPRD (Varview)
              Functional Consequence:
              coding_sequence_variant,missense_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000004/1 (GnomAD_exomes)
              C=0.000015/4 (TOPMED)
              C=0.00005/7 (GnomAD)
              HGVS:
              NC_000009.12:g.8518103T>A, NC_000009.12:g.8518103T>C, NC_000009.11:g.8518103T>A, NC_000009.11:g.8518103T>C, NG_033963.1:g.2099621A>T, NG_033963.1:g.2099621A>G, NM_002839.4:c.1288A>T, NM_002839.4:c.1288A>G, NM_002839.3:c.1288A>T, NM_002839.3:c.1288A>G, NM_130391.4:c.1288A>T, NM_130391.4:c.1288A>G, NM_130391.3:c.1288A>T, NM_130391.3:c.1288A>G, NM_130392.3:c.1288A>T, NM_130392.3:c.1288A>G, NM_130393.3:c.1270A>T, NM_130393.3:c.1270A>G, NM_001171025.2:c.1258A>T, NM_001171025.2:c.1258A>G, NM_001171025.1:c.1258A>T, NM_001171025.1:c.1258A>G, NM_001040712.2:c.1279A>T, NM_001040712.2:c.1279A>G, NM_001377958.1:c.1288A>T, NM_001377958.1:c.1288A>G, NM_001378058.1:c.1288A>T, NM_001378058.1:c.1288A>G, NM_001377947.1:c.1279A>T, NM_001377947.1:c.1279A>G, NM_001377946.1:c.1270A>T, NM_001377946.1:c.1270A>G, XM_006716817.5:c.1288A>T, XM_006716817.5:c.1288A>G, XM_006716817.4:c.1288A>T, XM_006716817.4:c.1288A>G, XM_006716817.3:c.1288A>T, XM_006716817.3:c.1288A>G, XM_006716817.2:c.1288A>T, XM_006716817.2:c.1288A>G, XM_006716817.1:c.1288A>T, XM_006716817.1:c.1288A>G, XM_006716825.5:c.1288A>T, XM_006716825.5:c.1288A>G, XM_006716825.4:c.1288A>T, XM_006716825.4:c.1288A>G, XM_006716825.3:c.1288A>T, XM_006716825.3:c.1288A>G, XM_006716825.2:c.1288A>T, XM_006716825.2:c.1288A>G, XM_006716825.1:c.1288A>T, XM_006716825.1:c.1288A>G, XM_006716827.5:c.1249A>T, XM_006716827.5:c.1249A>G, XM_006716827.4:c.1249A>T, XM_006716827.4:c.1249A>G, XM_006716827.3:c.1249A>T, XM_006716827.3:c.1249A>G, XM_006716827.2:c.1249A>T, XM_006716827.2:c.1249A>G, XM_006716827.1:c.1249A>T, XM_006716827.1:c.1249A>G, XM_006716823.4:c.1288A>T, XM_006716823.4:c.1288A>G, XM_006716823.3:c.1288A>T, XM_006716823.3:c.1288A>G, XM_006716823.2:c.1288A>T, XM_006716823.2:c.1288A>G, XM_006716823.1:c.1288A>T, XM_006716823.1:c.1288A>G, XM_017014958.3:c.1288A>T, XM_017014958.3:c.1288A>G, XM_017014958.2:c.1288A>T, XM_017014958.2:c.1288A>G, XM_017014958.1:c.1288A>T, XM_017014958.1:c.1288A>G, XM_017014965.3:c.1288A>T, XM_017014965.3:c.1288A>G, XM_017014965.2:c.1288A>T, XM_017014965.2:c.1288A>G, XM_017014965.1:c.1288A>T, XM_017014965.1:c.1288A>G, XM_017014964.3:c.1288A>T, XM_017014964.3:c.1288A>G, XM_017014964.2:c.1288A>T, XM_017014964.2:c.1288A>G, XM_017014964.1:c.1288A>T, XM_017014964.1:c.1288A>G, XM_017014963.3:c.1288A>T, XM_017014963.3:c.1288A>G, XM_017014963.2:c.1288A>T, XM_017014963.2:c.1288A>G, XM_017014963.1:c.1288A>T, XM_017014963.1:c.1288A>G, XM_017014966.3:c.1279A>T, XM_017014966.3:c.1279A>G, XM_017014966.2:c.1279A>T, XM_017014966.2:c.1279A>G, XM_017014966.1:c.1279A>T, XM_017014966.1:c.1279A>G, XM_017014967.3:c.1276A>T, XM_017014967.3:c.1276A>G, XM_017014967.2:c.1276A>T, XM_017014967.2:c.1276A>G, XM_017014967.1:c.1276A>T, XM_017014967.1:c.1276A>G, XM_017014968.3:c.1288A>T, XM_017014968.3:c.1288A>G, XM_017014968.2:c.1288A>T, XM_017014968.2:c.1288A>G, XM_017014968.1:c.1288A>T, XM_017014968.1:c.1288A>G, XM_017014970.3:c.1288A>T, XM_017014970.3:c.1288A>G, XM_017014970.2:c.1288A>T, XM_017014970.2:c.1288A>G, XM_017014970.1:c.1288A>T, XM_017014970.1:c.1288A>G, XM_017014969.3:c.1270A>T, XM_017014969.3:c.1270A>G, XM_017014969.2:c.1270A>T, XM_017014969.2:c.1270A>G, XM_017014969.1:c.1270A>T, XM_017014969.1:c.1270A>G, XM_017014972.3:c.1288A>T, XM_017014972.3:c.1288A>G, XM_017014972.2:c.1288A>T, XM_017014972.2:c.1288A>G, XM_017014972.1:c.1288A>T, XM_017014972.1:c.1288A>G, XM_017014971.3:c.1261A>T, XM_017014971.3:c.1261A>G, XM_017014971.2:c.1261A>T, XM_017014971.2:c.1261A>G, XM_017014971.1:c.1261A>T, XM_017014971.1:c.1261A>G, XM_017014974.3:c.1288A>T, XM_017014974.3:c.1288A>G, XM_017014974.2:c.1288A>T, XM_017014974.2:c.1288A>G, XM_017014974.1:c.1288A>T, XM_017014974.1:c.1288A>G, XM_017014977.3:c.1288A>T, XM_017014977.3:c.1288A>G, XM_017014977.2:c.1288A>T, XM_017014977.2:c.1288A>G, XM_017014977.1:c.1288A>T, XM_017014977.1:c.1288A>G, XM_017014976.3:c.1288A>T, XM_017014976.3:c.1288A>G, XM_017014976.2:c.1288A>T, XM_017014976.2:c.1288A>G, XM_017014976.1:c.1288A>T, XM_017014976.1:c.1288A>G, XM_017014978.3:c.1288A>T, XM_017014978.3:c.1288A>G, XM_017014978.2:c.1288A>T, XM_017014978.2:c.1288A>G, XM_017014978.1:c.1288A>T, XM_017014978.1:c.1288A>G, XM_017014979.3:c.1288A>T, XM_017014979.3:c.1288A>G, XM_017014979.2:c.1288A>T, XM_017014979.2:c.1288A>G, XM_017014979.1:c.1288A>T, XM_017014979.1:c.1288A>G, XM_017014961.3:c.1288A>T, XM_017014961.3:c.1288A>G, XM_017014961.2:c.1288A>T, XM_017014961.2:c.1288A>G, XM_017014961.1:c.1288A>T, XM_017014961.1:c.1288A>G, XM_017014980.3:c.1288A>T, XM_017014980.3:c.1288A>G, XM_017014980.2:c.1288A>T, XM_017014980.2:c.1288A>G, XM_017014980.1:c.1288A>T, XM_017014980.1:c.1288A>G, XM_017014982.3:c.1288A>T, XM_017014982.3:c.1288A>G, XM_017014982.2:c.1288A>T, XM_017014982.2:c.1288A>G, XM_017014982.1:c.1288A>T, XM_017014982.1:c.1288A>G, XM_017014983.3:c.1288A>T, XM_017014983.3:c.1288A>G, XM_017014983.2:c.1288A>T, XM_017014983.2:c.1288A>G, XM_017014983.1:c.1288A>T, XM_017014983.1:c.1288A>G, XM_024447625.2:c.1267A>T, XM_024447625.2:c.1267A>G, XM_024447625.1:c.1267A>T, XM_024447625.1:c.1267A>G, XM_047423641.1:c.1288A>T, XM_047423641.1:c.1288A>G, XM_047423642.1:c.1288A>T, XM_047423642.1:c.1288A>G, XM_047423644.1:c.1288A>T, XM_047423644.1:c.1288A>G, XM_047423645.1:c.1276A>T, XM_047423645.1:c.1276A>G, XM_047423647.1:c.1288A>T, XM_047423647.1:c.1288A>G, XM_047423649.1:c.1249A>T, XM_047423649.1:c.1249A>G, XM_047423651.1:c.1249A>T, XM_047423651.1:c.1249A>G, XM_047423650.1:c.1288A>T, XM_047423650.1:c.1288A>G, XM_047423652.1:c.1288A>T, XM_047423652.1:c.1288A>G, XM_047423654.1:c.1288A>T, XM_047423654.1:c.1288A>G, XM_047423653.1:c.1249A>T, XM_047423653.1:c.1249A>G, XM_047423657.1:c.1249A>T, XM_047423657.1:c.1249A>G, XM_047423643.1:c.1249A>T, XM_047423643.1:c.1249A>G, XM_047423646.1:c.1249A>T, XM_047423646.1:c.1249A>G, XM_047423648.1:c.1249A>T, XM_047423648.1:c.1249A>G, XM_047423655.1:c.1249A>T, XM_047423655.1:c.1249A>G, XM_047423656.1:c.1249A>T, XM_047423656.1:c.1249A>G, XM_047423658.1:c.1249A>T, XM_047423658.1:c.1249A>G, XM_047423659.1:c.1249A>T, XM_047423659.1:c.1249A>G, XM_047423660.1:c.1249A>T, XM_047423660.1:c.1249A>G, NP_002830.1:p.Ser430Cys, NP_002830.1:p.Ser430Gly, NP_569075.2:p.Ser430Cys, NP_569075.2:p.Ser430Gly, NP_569076.2:p.Ser430Cys, NP_569076.2:p.Ser430Gly, NP_569077.2:p.Ser424Cys, NP_569077.2:p.Ser424Gly, NP_001164496.1:p.Ser420Cys, NP_001164496.1:p.Ser420Gly, NP_001035802.1:p.Ser427Cys, NP_001035802.1:p.Ser427Gly, NP_001364887.1:p.Ser430Cys, NP_001364887.1:p.Ser430Gly, NP_001364987.1:p.Ser430Cys, NP_001364987.1:p.Ser430Gly, NP_001364876.1:p.Ser427Cys, NP_001364876.1:p.Ser427Gly, NP_001364875.1:p.Ser424Cys, NP_001364875.1:p.Ser424Gly, XP_006716880.1:p.Ser430Cys, XP_006716880.1:p.Ser430Gly, XP_006716888.1:p.Ser430Cys, XP_006716888.1:p.Ser430Gly, XP_006716890.1:p.Ser417Cys, XP_006716890.1:p.Ser417Gly, XP_006716886.1:p.Ser430Cys, XP_006716886.1:p.Ser430Gly, XP_016870447.1:p.Ser430Cys, XP_016870447.1:p.Ser430Gly, XP_016870454.1:p.Ser430Cys, XP_016870454.1:p.Ser430Gly, XP_016870453.1:p.Ser430Cys, XP_016870453.1:p.Ser430Gly, XP_016870452.1:p.Ser430Cys, XP_016870452.1:p.Ser430Gly, XP_016870455.1:p.Ser427Cys, XP_016870455.1:p.Ser427Gly, XP_016870456.1:p.Ser426Cys, XP_016870456.1:p.Ser426Gly, XP_016870457.1:p.Ser430Cys, XP_016870457.1:p.Ser430Gly, XP_016870459.1:p.Ser430Cys, XP_016870459.1:p.Ser430Gly, XP_016870458.1:p.Ser424Cys, XP_016870458.1:p.Ser424Gly, XP_016870461.1:p.Ser430Cys, XP_016870461.1:p.Ser430Gly, XP_016870460.1:p.Ser421Cys, XP_016870460.1:p.Ser421Gly, XP_016870463.1:p.Ser430Cys, XP_016870463.1:p.Ser430Gly, XP_016870466.1:p.Ser430Cys, XP_016870466.1:p.Ser430Gly, XP_016870465.1:p.Ser430Cys, XP_016870465.1:p.Ser430Gly, XP_016870467.1:p.Ser430Cys, XP_016870467.1:p.Ser430Gly, XP_016870468.1:p.Ser430Cys, XP_016870468.1:p.Ser430Gly, XP_016870450.1:p.Ser430Cys, XP_016870450.1:p.Ser430Gly, XP_016870469.1:p.Ser430Cys, XP_016870469.1:p.Ser430Gly, XP_016870471.1:p.Ser430Cys, XP_016870471.1:p.Ser430Gly, XP_016870472.1:p.Ser430Cys, XP_016870472.1:p.Ser430Gly, XP_024303393.1:p.Ser423Cys, XP_024303393.1:p.Ser423Gly, XP_047279597.1:p.Ser430Cys, XP_047279597.1:p.Ser430Gly, XP_047279598.1:p.Ser430Cys, XP_047279598.1:p.Ser430Gly, XP_047279600.1:p.Ser430Cys, XP_047279600.1:p.Ser430Gly, XP_047279601.1:p.Ser426Cys, XP_047279601.1:p.Ser426Gly, XP_047279603.1:p.Ser430Cys, XP_047279603.1:p.Ser430Gly, XP_047279605.1:p.Ser417Cys, XP_047279605.1:p.Ser417Gly, XP_047279607.1:p.Ser417Cys, XP_047279607.1:p.Ser417Gly, XP_047279606.1:p.Ser430Cys, XP_047279606.1:p.Ser430Gly, XP_047279608.1:p.Ser430Cys, XP_047279608.1:p.Ser430Gly, XP_047279610.1:p.Ser430Cys, XP_047279610.1:p.Ser430Gly, XP_047279609.1:p.Ser417Cys, XP_047279609.1:p.Ser417Gly, XP_047279613.1:p.Ser417Cys, XP_047279613.1:p.Ser417Gly, XP_047279599.1:p.Ser417Cys, XP_047279599.1:p.Ser417Gly, XP_047279602.1:p.Ser417Cys, XP_047279602.1:p.Ser417Gly, XP_047279604.1:p.Ser417Cys, XP_047279604.1:p.Ser417Gly, XP_047279611.1:p.Ser417Cys, XP_047279611.1:p.Ser417Gly, XP_047279612.1:p.Ser417Cys, XP_047279612.1:p.Ser417Gly, XP_047279614.1:p.Ser417Cys, XP_047279614.1:p.Ser417Gly, XP_047279615.1:p.Ser417Cys, XP_047279615.1:p.Ser417Gly, XP_047279616.1:p.Ser417Cys, XP_047279616.1:p.Ser417Gly

              7.

              rs1488341827 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>A,C [Show Flanks]
                Chromosome:
                9:8518023 (GRCh38)
                9:8518023 (GRCh37)
                Canonical SPDI:
                NC_000009.12:8518022:T:A,NC_000009.12:8518022:T:C
                Gene:
                PTPRD (Varview)
                Functional Consequence:
                coding_sequence_variant,synonymous_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                C=0./0 (ALFA)
                C=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000009.12:g.8518023T>A, NC_000009.12:g.8518023T>C, NC_000009.11:g.8518023T>A, NC_000009.11:g.8518023T>C, NG_033963.1:g.2099701A>T, NG_033963.1:g.2099701A>G, NM_002839.4:c.1368A>T, NM_002839.4:c.1368A>G, NM_002839.3:c.1368A>T, NM_002839.3:c.1368A>G, NM_130391.4:c.1368A>T, NM_130391.4:c.1368A>G, NM_130391.3:c.1368A>T, NM_130391.3:c.1368A>G, NM_130392.3:c.1368A>T, NM_130392.3:c.1368A>G, NM_130393.3:c.1350A>T, NM_130393.3:c.1350A>G, NM_001171025.2:c.1338A>T, NM_001171025.2:c.1338A>G, NM_001171025.1:c.1338A>T, NM_001171025.1:c.1338A>G, NM_001040712.2:c.1359A>T, NM_001040712.2:c.1359A>G, NM_001377958.1:c.1368A>T, NM_001377958.1:c.1368A>G, NM_001378058.1:c.1368A>T, NM_001378058.1:c.1368A>G, NM_001377947.1:c.1359A>T, NM_001377947.1:c.1359A>G, NM_001377946.1:c.1350A>T, NM_001377946.1:c.1350A>G, XM_006716817.5:c.1368A>T, XM_006716817.5:c.1368A>G, XM_006716817.4:c.1368A>T, XM_006716817.4:c.1368A>G, XM_006716817.3:c.1368A>T, XM_006716817.3:c.1368A>G, XM_006716817.2:c.1368A>T, XM_006716817.2:c.1368A>G, XM_006716817.1:c.1368A>T, XM_006716817.1:c.1368A>G, XM_006716825.5:c.1368A>T, XM_006716825.5:c.1368A>G, XM_006716825.4:c.1368A>T, XM_006716825.4:c.1368A>G, XM_006716825.3:c.1368A>T, XM_006716825.3:c.1368A>G, XM_006716825.2:c.1368A>T, XM_006716825.2:c.1368A>G, XM_006716825.1:c.1368A>T, XM_006716825.1:c.1368A>G, XM_006716827.5:c.1329A>T, XM_006716827.5:c.1329A>G, XM_006716827.4:c.1329A>T, XM_006716827.4:c.1329A>G, XM_006716827.3:c.1329A>T, XM_006716827.3:c.1329A>G, XM_006716827.2:c.1329A>T, XM_006716827.2:c.1329A>G, XM_006716827.1:c.1329A>T, XM_006716827.1:c.1329A>G, XM_006716823.4:c.1368A>T, XM_006716823.4:c.1368A>G, XM_006716823.3:c.1368A>T, XM_006716823.3:c.1368A>G, XM_006716823.2:c.1368A>T, XM_006716823.2:c.1368A>G, XM_006716823.1:c.1368A>T, XM_006716823.1:c.1368A>G, XM_017014958.3:c.1368A>T, XM_017014958.3:c.1368A>G, XM_017014958.2:c.1368A>T, XM_017014958.2:c.1368A>G, XM_017014958.1:c.1368A>T, XM_017014958.1:c.1368A>G, XM_017014965.3:c.1368A>T, XM_017014965.3:c.1368A>G, XM_017014965.2:c.1368A>T, XM_017014965.2:c.1368A>G, XM_017014965.1:c.1368A>T, XM_017014965.1:c.1368A>G, XM_017014964.3:c.1368A>T, XM_017014964.3:c.1368A>G, XM_017014964.2:c.1368A>T, XM_017014964.2:c.1368A>G, XM_017014964.1:c.1368A>T, XM_017014964.1:c.1368A>G, XM_017014963.3:c.1368A>T, XM_017014963.3:c.1368A>G, XM_017014963.2:c.1368A>T, XM_017014963.2:c.1368A>G, XM_017014963.1:c.1368A>T, XM_017014963.1:c.1368A>G, XM_017014966.3:c.1359A>T, XM_017014966.3:c.1359A>G, XM_017014966.2:c.1359A>T, XM_017014966.2:c.1359A>G, XM_017014966.1:c.1359A>T, XM_017014966.1:c.1359A>G, XM_017014967.3:c.1356A>T, XM_017014967.3:c.1356A>G, XM_017014967.2:c.1356A>T, XM_017014967.2:c.1356A>G, XM_017014967.1:c.1356A>T, XM_017014967.1:c.1356A>G, XM_017014968.3:c.1368A>T, XM_017014968.3:c.1368A>G, XM_017014968.2:c.1368A>T, XM_017014968.2:c.1368A>G, XM_017014968.1:c.1368A>T, XM_017014968.1:c.1368A>G, XM_017014970.3:c.1368A>T, XM_017014970.3:c.1368A>G, XM_017014970.2:c.1368A>T, XM_017014970.2:c.1368A>G, XM_017014970.1:c.1368A>T, XM_017014970.1:c.1368A>G, XM_017014969.3:c.1350A>T, XM_017014969.3:c.1350A>G, XM_017014969.2:c.1350A>T, XM_017014969.2:c.1350A>G, XM_017014969.1:c.1350A>T, XM_017014969.1:c.1350A>G, XM_017014972.3:c.1368A>T, XM_017014972.3:c.1368A>G, XM_017014972.2:c.1368A>T, XM_017014972.2:c.1368A>G, XM_017014972.1:c.1368A>T, XM_017014972.1:c.1368A>G, XM_017014971.3:c.1341A>T, XM_017014971.3:c.1341A>G, XM_017014971.2:c.1341A>T, XM_017014971.2:c.1341A>G, XM_017014971.1:c.1341A>T, XM_017014971.1:c.1341A>G, XM_017014974.3:c.1368A>T, XM_017014974.3:c.1368A>G, XM_017014974.2:c.1368A>T, XM_017014974.2:c.1368A>G, XM_017014974.1:c.1368A>T, XM_017014974.1:c.1368A>G, XM_017014977.3:c.1368A>T, XM_017014977.3:c.1368A>G, XM_017014977.2:c.1368A>T, XM_017014977.2:c.1368A>G, XM_017014977.1:c.1368A>T, XM_017014977.1:c.1368A>G, XM_017014976.3:c.1368A>T, XM_017014976.3:c.1368A>G, XM_017014976.2:c.1368A>T, XM_017014976.2:c.1368A>G, XM_017014976.1:c.1368A>T, XM_017014976.1:c.1368A>G, XM_017014978.3:c.1368A>T, XM_017014978.3:c.1368A>G, XM_017014978.2:c.1368A>T, XM_017014978.2:c.1368A>G, XM_017014978.1:c.1368A>T, XM_017014978.1:c.1368A>G, XM_017014979.3:c.1368A>T, XM_017014979.3:c.1368A>G, XM_017014979.2:c.1368A>T, XM_017014979.2:c.1368A>G, XM_017014979.1:c.1368A>T, XM_017014979.1:c.1368A>G, XM_017014961.3:c.1368A>T, XM_017014961.3:c.1368A>G, XM_017014961.2:c.1368A>T, XM_017014961.2:c.1368A>G, XM_017014961.1:c.1368A>T, XM_017014961.1:c.1368A>G, XM_017014980.3:c.1368A>T, XM_017014980.3:c.1368A>G, XM_017014980.2:c.1368A>T, XM_017014980.2:c.1368A>G, XM_017014980.1:c.1368A>T, XM_017014980.1:c.1368A>G, XM_017014982.3:c.1368A>T, XM_017014982.3:c.1368A>G, XM_017014982.2:c.1368A>T, XM_017014982.2:c.1368A>G, XM_017014982.1:c.1368A>T, XM_017014982.1:c.1368A>G, XM_017014983.3:c.1368A>T, XM_017014983.3:c.1368A>G, XM_017014983.2:c.1368A>T, XM_017014983.2:c.1368A>G, XM_017014983.1:c.1368A>T, XM_017014983.1:c.1368A>G, XM_024447625.2:c.1347A>T, XM_024447625.2:c.1347A>G, XM_024447625.1:c.1347A>T, XM_024447625.1:c.1347A>G, XM_047423641.1:c.1368A>T, XM_047423641.1:c.1368A>G, XM_047423642.1:c.1368A>T, XM_047423642.1:c.1368A>G, XM_047423644.1:c.1368A>T, XM_047423644.1:c.1368A>G, XM_047423645.1:c.1356A>T, XM_047423645.1:c.1356A>G, XM_047423647.1:c.1368A>T, XM_047423647.1:c.1368A>G, XM_047423649.1:c.1329A>T, XM_047423649.1:c.1329A>G, XM_047423651.1:c.1329A>T, XM_047423651.1:c.1329A>G, XM_047423650.1:c.1368A>T, XM_047423650.1:c.1368A>G, XM_047423652.1:c.1368A>T, XM_047423652.1:c.1368A>G, XM_047423654.1:c.1368A>T, XM_047423654.1:c.1368A>G, XM_047423653.1:c.1329A>T, XM_047423653.1:c.1329A>G, XM_047423657.1:c.1329A>T, XM_047423657.1:c.1329A>G, XM_047423643.1:c.1329A>T, XM_047423643.1:c.1329A>G, XM_047423646.1:c.1329A>T, XM_047423646.1:c.1329A>G, XM_047423648.1:c.1329A>T, XM_047423648.1:c.1329A>G, XM_047423655.1:c.1329A>T, XM_047423655.1:c.1329A>G, XM_047423656.1:c.1329A>T, XM_047423656.1:c.1329A>G, XM_047423658.1:c.1329A>T, XM_047423658.1:c.1329A>G, XM_047423659.1:c.1329A>T, XM_047423659.1:c.1329A>G, XM_047423660.1:c.1329A>T, XM_047423660.1:c.1329A>G

                8.

                rs1488289979 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A,C,T [Show Flanks]
                  Chromosome:
                  9:8485893 (GRCh38)
                  9:8485893 (GRCh37)
                  Canonical SPDI:
                  NC_000009.12:8485892:G:A,NC_000009.12:8485892:G:C,NC_000009.12:8485892:G:T
                  Gene:
                  PTPRD (Varview)
                  Functional Consequence:
                  coding_sequence_variant,intron_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000008/2 (GnomAD_exomes)
                  C=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000009.12:g.8485893G>A, NC_000009.12:g.8485893G>C, NC_000009.12:g.8485893G>T, NC_000009.11:g.8485893G>A, NC_000009.11:g.8485893G>C, NC_000009.11:g.8485893G>T, NG_033963.1:g.2131831C>T, NG_033963.1:g.2131831C>G, NG_033963.1:g.2131831C>A, NM_002839.4:c.2924C>T, NM_002839.4:c.2924C>G, NM_002839.4:c.2924C>A, NM_002839.3:c.2924C>T, NM_002839.3:c.2924C>G, NM_002839.3:c.2924C>A, NM_001377958.1:c.2924C>T, NM_001377958.1:c.2924C>G, NM_001377958.1:c.2924C>A, NM_001378058.1:c.2924C>T, NM_001378058.1:c.2924C>G, NM_001378058.1:c.2924C>A, XM_006716817.5:c.2924C>T, XM_006716817.5:c.2924C>G, XM_006716817.5:c.2924C>A, XM_006716817.4:c.2924C>T, XM_006716817.4:c.2924C>G, XM_006716817.4:c.2924C>A, XM_006716817.3:c.2924C>T, XM_006716817.3:c.2924C>G, XM_006716817.3:c.2924C>A, XM_006716817.2:c.2924C>T, XM_006716817.2:c.2924C>G, XM_006716817.2:c.2924C>A, XM_006716817.1:c.2924C>T, XM_006716817.1:c.2924C>G, XM_006716817.1:c.2924C>A, XM_006716825.5:c.2924C>T, XM_006716825.5:c.2924C>G, XM_006716825.5:c.2924C>A, XM_006716825.4:c.2924C>T, XM_006716825.4:c.2924C>G, XM_006716825.4:c.2924C>A, XM_006716825.3:c.2924C>T, XM_006716825.3:c.2924C>G, XM_006716825.3:c.2924C>A, XM_006716825.2:c.2924C>T, XM_006716825.2:c.2924C>G, XM_006716825.2:c.2924C>A, XM_006716825.1:c.2924C>T, XM_006716825.1:c.2924C>G, XM_006716825.1:c.2924C>A, XM_006716827.5:c.2858C>T, XM_006716827.5:c.2858C>G, XM_006716827.5:c.2858C>A, XM_006716827.4:c.2858C>T, XM_006716827.4:c.2858C>G, XM_006716827.4:c.2858C>A, XM_006716827.3:c.2858C>T, XM_006716827.3:c.2858C>G, XM_006716827.3:c.2858C>A, XM_006716827.2:c.2858C>T, XM_006716827.2:c.2858C>G, XM_006716827.2:c.2858C>A, XM_006716827.1:c.2858C>T, XM_006716827.1:c.2858C>G, XM_006716827.1:c.2858C>A, XM_006716823.4:c.2924C>T, XM_006716823.4:c.2924C>G, XM_006716823.4:c.2924C>A, XM_006716823.3:c.2924C>T, XM_006716823.3:c.2924C>G, XM_006716823.3:c.2924C>A, XM_006716823.2:c.2924C>T, XM_006716823.2:c.2924C>G, XM_006716823.2:c.2924C>A, XM_006716823.1:c.2924C>T, XM_006716823.1:c.2924C>G, XM_006716823.1:c.2924C>A, XM_017014958.3:c.2924C>T, XM_017014958.3:c.2924C>G, XM_017014958.3:c.2924C>A, XM_017014958.2:c.2924C>T, XM_017014958.2:c.2924C>G, XM_017014958.2:c.2924C>A, XM_017014958.1:c.2924C>T, XM_017014958.1:c.2924C>G, XM_017014958.1:c.2924C>A, XM_017014965.3:c.2924C>T, XM_017014965.3:c.2924C>G, XM_017014965.3:c.2924C>A, XM_017014965.2:c.2924C>T, XM_017014965.2:c.2924C>G, XM_017014965.2:c.2924C>A, XM_017014965.1:c.2924C>T, XM_017014965.1:c.2924C>G, XM_017014965.1:c.2924C>A, XM_017014964.3:c.2924C>T, XM_017014964.3:c.2924C>G, XM_017014964.3:c.2924C>A, XM_017014964.2:c.2924C>T, XM_017014964.2:c.2924C>G, XM_017014964.2:c.2924C>A, XM_017014964.1:c.2924C>T, XM_017014964.1:c.2924C>G, XM_017014964.1:c.2924C>A, XM_017014963.3:c.2924C>T, XM_017014963.3:c.2924C>G, XM_017014963.3:c.2924C>A, XM_017014963.2:c.2924C>T, XM_017014963.2:c.2924C>G, XM_017014963.2:c.2924C>A, XM_017014963.1:c.2924C>T, XM_017014963.1:c.2924C>G, XM_017014963.1:c.2924C>A, XM_017014966.3:c.2915C>T, XM_017014966.3:c.2915C>G, XM_017014966.3:c.2915C>A, XM_017014966.2:c.2915C>T, XM_017014966.2:c.2915C>G, XM_017014966.2:c.2915C>A, XM_017014966.1:c.2915C>T, XM_017014966.1:c.2915C>G, XM_017014966.1:c.2915C>A, XM_017014967.3:c.2912C>T, XM_017014967.3:c.2912C>G, XM_017014967.3:c.2912C>A, XM_017014967.2:c.2912C>T, XM_017014967.2:c.2912C>G, XM_017014967.2:c.2912C>A, XM_017014967.1:c.2912C>T, XM_017014967.1:c.2912C>G, XM_017014967.1:c.2912C>A, XM_017014968.3:c.2924C>T, XM_017014968.3:c.2924C>G, XM_017014968.3:c.2924C>A, XM_017014968.2:c.2924C>T, XM_017014968.2:c.2924C>G, XM_017014968.2:c.2924C>A, XM_017014968.1:c.2924C>T, XM_017014968.1:c.2924C>G, XM_017014968.1:c.2924C>A, XM_017014970.3:c.2924C>T, XM_017014970.3:c.2924C>G, XM_017014970.3:c.2924C>A, XM_017014970.2:c.2924C>T, XM_017014970.2:c.2924C>G, XM_017014970.2:c.2924C>A, XM_017014970.1:c.2924C>T, XM_017014970.1:c.2924C>G, XM_017014970.1:c.2924C>A, XM_017014969.3:c.2906C>T, XM_017014969.3:c.2906C>G, XM_017014969.3:c.2906C>A, XM_017014969.2:c.2906C>T, XM_017014969.2:c.2906C>G, XM_017014969.2:c.2906C>A, XM_017014969.1:c.2906C>T, XM_017014969.1:c.2906C>G, XM_017014969.1:c.2906C>A, XM_017014972.3:c.2897C>T, XM_017014972.3:c.2897C>G, XM_017014972.3:c.2897C>A, XM_017014972.2:c.2897C>T, XM_017014972.2:c.2897C>G, XM_017014972.2:c.2897C>A, XM_017014972.1:c.2897C>T, XM_017014972.1:c.2897C>G, XM_017014972.1:c.2897C>A, XM_017014971.3:c.2897C>T, XM_017014971.3:c.2897C>G, XM_017014971.3:c.2897C>A, XM_017014971.2:c.2897C>T, XM_017014971.2:c.2897C>G, XM_017014971.2:c.2897C>A, XM_017014971.1:c.2897C>T, XM_017014971.1:c.2897C>G, XM_017014971.1:c.2897C>A, XM_017014974.3:c.2897C>T, XM_017014974.3:c.2897C>G, XM_017014974.3:c.2897C>A, XM_017014974.2:c.2897C>T, XM_017014974.2:c.2897C>G, XM_017014974.2:c.2897C>A, XM_017014974.1:c.2897C>T, XM_017014974.1:c.2897C>G, XM_017014974.1:c.2897C>A, XM_017014977.3:c.2897C>T, XM_017014977.3:c.2897C>G, XM_017014977.3:c.2897C>A, XM_017014977.2:c.2897C>T, XM_017014977.2:c.2897C>G, XM_017014977.2:c.2897C>A, XM_017014977.1:c.2897C>T, XM_017014977.1:c.2897C>G, XM_017014977.1:c.2897C>A, XM_017014976.3:c.2924C>T, XM_017014976.3:c.2924C>G, XM_017014976.3:c.2924C>A, XM_017014976.2:c.2924C>T, XM_017014976.2:c.2924C>G, XM_017014976.2:c.2924C>A, XM_017014976.1:c.2924C>T, XM_017014976.1:c.2924C>G, XM_017014976.1:c.2924C>A, XM_017014978.3:c.2924C>T, XM_017014978.3:c.2924C>G, XM_017014978.3:c.2924C>A, XM_017014978.2:c.2924C>T, XM_017014978.2:c.2924C>G, XM_017014978.2:c.2924C>A, XM_017014978.1:c.2924C>T, XM_017014978.1:c.2924C>G, XM_017014978.1:c.2924C>A, XM_017014979.3:c.2924C>T, XM_017014979.3:c.2924C>G, XM_017014979.3:c.2924C>A, XM_017014979.2:c.2924C>T, XM_017014979.2:c.2924C>G, XM_017014979.2:c.2924C>A, XM_017014979.1:c.2924C>T, XM_017014979.1:c.2924C>G, XM_017014979.1:c.2924C>A, XM_017014961.3:c.2924C>T, XM_017014961.3:c.2924C>G, XM_017014961.3:c.2924C>A, XM_017014961.2:c.2924C>T, XM_017014961.2:c.2924C>G, XM_017014961.2:c.2924C>A, XM_017014961.1:c.2924C>T, XM_017014961.1:c.2924C>G, XM_017014961.1:c.2924C>A, XM_017014980.3:c.2897C>T, XM_017014980.3:c.2897C>G, XM_017014980.3:c.2897C>A, XM_017014980.2:c.2897C>T, XM_017014980.2:c.2897C>G, XM_017014980.2:c.2897C>A, XM_017014980.1:c.2897C>T, XM_017014980.1:c.2897C>G, XM_017014980.1:c.2897C>A, XM_024447625.2:c.2903C>T, XM_024447625.2:c.2903C>G, XM_024447625.2:c.2903C>A, XM_024447625.1:c.2903C>T, XM_024447625.1:c.2903C>G, XM_024447625.1:c.2903C>A, XM_047423641.1:c.2924C>T, XM_047423641.1:c.2924C>G, XM_047423641.1:c.2924C>A, XM_047423642.1:c.2924C>T, XM_047423642.1:c.2924C>G, XM_047423642.1:c.2924C>A, XM_047423644.1:c.2897C>T, XM_047423644.1:c.2897C>G, XM_047423644.1:c.2897C>A, XM_047423645.1:c.2885C>T, XM_047423645.1:c.2885C>G, XM_047423645.1:c.2885C>A, XM_047423647.1:c.2924C>T, XM_047423647.1:c.2924C>G, XM_047423647.1:c.2924C>A, XM_047423649.1:c.2858C>T, XM_047423649.1:c.2858C>G, XM_047423649.1:c.2858C>A, XM_047423651.1:c.2858C>T, XM_047423651.1:c.2858C>G, XM_047423651.1:c.2858C>A, XM_047423650.1:c.2897C>T, XM_047423650.1:c.2897C>G, XM_047423650.1:c.2897C>A, XM_047423652.1:c.2897C>T, XM_047423652.1:c.2897C>G, XM_047423652.1:c.2897C>A, XM_047423654.1:c.2897C>T, XM_047423654.1:c.2897C>G, XM_047423654.1:c.2897C>A, XM_047423653.1:c.2885C>T, XM_047423653.1:c.2885C>G, XM_047423653.1:c.2885C>A, XM_047423657.1:c.2885C>T, XM_047423657.1:c.2885C>G, XM_047423657.1:c.2885C>A, XM_047423643.1:c.2885C>T, XM_047423643.1:c.2885C>G, XM_047423643.1:c.2885C>A, XM_047423646.1:c.2885C>T, XM_047423646.1:c.2885C>G, XM_047423646.1:c.2885C>A, XM_047423648.1:c.2858C>T, XM_047423648.1:c.2858C>G, XM_047423648.1:c.2858C>A, XM_047423655.1:c.2885C>T, XM_047423655.1:c.2885C>G, XM_047423655.1:c.2885C>A, XM_047423656.1:c.2885C>T, XM_047423656.1:c.2885C>G, XM_047423656.1:c.2885C>A, XM_047423658.1:c.2858C>T, XM_047423658.1:c.2858C>G, XM_047423658.1:c.2858C>A, XM_047423659.1:c.2858C>T, XM_047423659.1:c.2858C>G, XM_047423659.1:c.2858C>A, XM_047423660.1:c.2858C>T, XM_047423660.1:c.2858C>G, XM_047423660.1:c.2858C>A, NP_002830.1:p.Ala975Val, NP_002830.1:p.Ala975Gly, NP_002830.1:p.Ala975Asp, NP_001364887.1:p.Ala975Val, NP_001364887.1:p.Ala975Gly, NP_001364887.1:p.Ala975Asp, NP_001364987.1:p.Ala975Val, NP_001364987.1:p.Ala975Gly, NP_001364987.1:p.Ala975Asp, XP_006716880.1:p.Ala975Val, XP_006716880.1:p.Ala975Gly, XP_006716880.1:p.Ala975Asp, XP_006716888.1:p.Ala975Val, XP_006716888.1:p.Ala975Gly, XP_006716888.1:p.Ala975Asp, XP_006716890.1:p.Ala953Val, XP_006716890.1:p.Ala953Gly, XP_006716890.1:p.Ala953Asp, XP_006716886.1:p.Ala975Val, XP_006716886.1:p.Ala975Gly, XP_006716886.1:p.Ala975Asp, XP_016870447.1:p.Ala975Val, XP_016870447.1:p.Ala975Gly, XP_016870447.1:p.Ala975Asp, XP_016870454.1:p.Ala975Val, XP_016870454.1:p.Ala975Gly, XP_016870454.1:p.Ala975Asp, XP_016870453.1:p.Ala975Val, XP_016870453.1:p.Ala975Gly, XP_016870453.1:p.Ala975Asp, XP_016870452.1:p.Ala975Val, XP_016870452.1:p.Ala975Gly, XP_016870452.1:p.Ala975Asp, XP_016870455.1:p.Ala972Val, XP_016870455.1:p.Ala972Gly, XP_016870455.1:p.Ala972Asp, XP_016870456.1:p.Ala971Val, XP_016870456.1:p.Ala971Gly, XP_016870456.1:p.Ala971Asp, XP_016870457.1:p.Ala975Val, XP_016870457.1:p.Ala975Gly, XP_016870457.1:p.Ala975Asp, XP_016870459.1:p.Ala975Val, XP_016870459.1:p.Ala975Gly, XP_016870459.1:p.Ala975Asp, XP_016870458.1:p.Ala969Val, XP_016870458.1:p.Ala969Gly, XP_016870458.1:p.Ala969Asp, XP_016870461.1:p.Ala966Val, XP_016870461.1:p.Ala966Gly, XP_016870461.1:p.Ala966Asp, XP_016870460.1:p.Ala966Val, XP_016870460.1:p.Ala966Gly, XP_016870460.1:p.Ala966Asp, XP_016870463.1:p.Ala966Val, XP_016870463.1:p.Ala966Gly, XP_016870463.1:p.Ala966Asp, XP_016870466.1:p.Ala966Val, XP_016870466.1:p.Ala966Gly, XP_016870466.1:p.Ala966Asp, XP_016870465.1:p.Ala975Val, XP_016870465.1:p.Ala975Gly, XP_016870465.1:p.Ala975Asp, XP_016870467.1:p.Ala975Val, XP_016870467.1:p.Ala975Gly, XP_016870467.1:p.Ala975Asp, XP_016870468.1:p.Ala975Val, XP_016870468.1:p.Ala975Gly, XP_016870468.1:p.Ala975Asp, XP_016870450.1:p.Ala975Val, XP_016870450.1:p.Ala975Gly, XP_016870450.1:p.Ala975Asp, XP_016870469.1:p.Ala966Val, XP_016870469.1:p.Ala966Gly, XP_016870469.1:p.Ala966Asp, XP_024303393.1:p.Ala968Val, XP_024303393.1:p.Ala968Gly, XP_024303393.1:p.Ala968Asp, XP_047279597.1:p.Ala975Val, XP_047279597.1:p.Ala975Gly, XP_047279597.1:p.Ala975Asp, XP_047279598.1:p.Ala975Val, XP_047279598.1:p.Ala975Gly, XP_047279598.1:p.Ala975Asp, XP_047279600.1:p.Ala966Val, XP_047279600.1:p.Ala966Gly, XP_047279600.1:p.Ala966Asp, XP_047279601.1:p.Ala962Val, XP_047279601.1:p.Ala962Gly, XP_047279601.1:p.Ala962Asp, XP_047279603.1:p.Ala975Val, XP_047279603.1:p.Ala975Gly, XP_047279603.1:p.Ala975Asp, XP_047279605.1:p.Ala953Val, XP_047279605.1:p.Ala953Gly, XP_047279605.1:p.Ala953Asp, XP_047279607.1:p.Ala953Val, XP_047279607.1:p.Ala953Gly, XP_047279607.1:p.Ala953Asp, XP_047279606.1:p.Ala966Val, XP_047279606.1:p.Ala966Gly, XP_047279606.1:p.Ala966Asp, XP_047279608.1:p.Ala966Val, XP_047279608.1:p.Ala966Gly, XP_047279608.1:p.Ala966Asp, XP_047279610.1:p.Ala966Val, XP_047279610.1:p.Ala966Gly, XP_047279610.1:p.Ala966Asp, XP_047279609.1:p.Ala962Val, XP_047279609.1:p.Ala962Gly, XP_047279609.1:p.Ala962Asp, XP_047279613.1:p.Ala962Val, XP_047279613.1:p.Ala962Gly, XP_047279613.1:p.Ala962Asp, XP_047279599.1:p.Ala962Val, XP_047279599.1:p.Ala962Gly, XP_047279599.1:p.Ala962Asp, XP_047279602.1:p.Ala962Val, XP_047279602.1:p.Ala962Gly, XP_047279602.1:p.Ala962Asp, XP_047279604.1:p.Ala953Val, XP_047279604.1:p.Ala953Gly, XP_047279604.1:p.Ala953Asp, XP_047279611.1:p.Ala962Val, XP_047279611.1:p.Ala962Gly, XP_047279611.1:p.Ala962Asp, XP_047279612.1:p.Ala962Val, XP_047279612.1:p.Ala962Gly, XP_047279612.1:p.Ala962Asp, XP_047279614.1:p.Ala953Val, XP_047279614.1:p.Ala953Gly, XP_047279614.1:p.Ala953Asp, XP_047279615.1:p.Ala953Val, XP_047279615.1:p.Ala953Gly, XP_047279615.1:p.Ala953Asp, XP_047279616.1:p.Ala953Val, XP_047279616.1:p.Ala953Gly, XP_047279616.1:p.Ala953Asp

                  9.

                  rs1488224973 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,C [Show Flanks]
                    Chromosome:
                    9:8341240 (GRCh38)
                    9:8341240 (GRCh37)
                    Canonical SPDI:
                    NC_000009.12:8341239:G:A,NC_000009.12:8341239:G:C
                    Gene:
                    PTPRD (Varview)
                    Functional Consequence:
                    coding_sequence_variant,stop_gained,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0./0 (ALFA)
                    A=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000009.12:g.8341240G>A, NC_000009.12:g.8341240G>C, NC_000009.11:g.8341240G>A, NC_000009.11:g.8341240G>C, NG_033963.1:g.2276484C>T, NG_033963.1:g.2276484C>G, NM_002839.4:c.4976C>T, NM_002839.4:c.4976C>G, NM_002839.3:c.4976C>T, NM_002839.3:c.4976C>G, NM_130391.4:c.3755C>T, NM_130391.4:c.3755C>G, NM_130391.3:c.3755C>T, NM_130391.3:c.3755C>G, NM_130392.3:c.3758C>T, NM_130392.3:c.3758C>G, NM_130393.3:c.3728C>T, NM_130393.3:c.3728C>G, NM_001171025.2:c.3755C>T, NM_001171025.2:c.3755C>G, NM_001171025.1:c.3755C>T, NM_001171025.1:c.3755C>G, NM_001040712.2:c.3746C>T, NM_001040712.2:c.3746C>G, NM_001377958.1:c.5036C>T, NM_001377958.1:c.5036C>G, NM_001378058.1:c.4991C>T, NM_001378058.1:c.4991C>G, NM_001377947.1:c.3737C>T, NM_001377947.1:c.3737C>G, NM_001377946.1:c.3767C>T, NM_001377946.1:c.3767C>G, XM_006716817.5:c.5027C>T, XM_006716817.5:c.5027C>G, XM_006716817.4:c.5027C>T, XM_006716817.4:c.5027C>G, XM_006716817.3:c.5027C>T, XM_006716817.3:c.5027C>G, XM_006716817.2:c.5027C>T, XM_006716817.2:c.5027C>G, XM_006716817.1:c.5027C>T, XM_006716817.1:c.5027C>G, XM_006716825.5:c.4976C>T, XM_006716825.5:c.4976C>G, XM_006716825.4:c.4976C>T, XM_006716825.4:c.4976C>G, XM_006716825.3:c.4976C>T, XM_006716825.3:c.4976C>G, XM_006716825.2:c.4976C>T, XM_006716825.2:c.4976C>G, XM_006716825.1:c.4976C>T, XM_006716825.1:c.4976C>G, XM_006716827.5:c.4919C>T, XM_006716827.5:c.4919C>G, XM_006716827.4:c.4919C>T, XM_006716827.4:c.4919C>G, XM_006716827.3:c.4919C>T, XM_006716827.3:c.4919C>G, XM_006716827.2:c.4919C>T, XM_006716827.2:c.4919C>G, XM_006716827.1:c.4919C>T, XM_006716827.1:c.4919C>G, XM_006716823.4:c.4979C>T, XM_006716823.4:c.4979C>G, XM_006716823.3:c.4979C>T, XM_006716823.3:c.4979C>G, XM_006716823.2:c.4979C>T, XM_006716823.2:c.4979C>G, XM_006716823.1:c.4979C>T, XM_006716823.1:c.4979C>G, XM_017014958.3:c.5036C>T, XM_017014958.3:c.5036C>G, XM_017014958.2:c.5036C>T, XM_017014958.2:c.5036C>G, XM_017014958.1:c.5036C>T, XM_017014958.1:c.5036C>G, XM_017014965.3:c.5033C>T, XM_017014965.3:c.5033C>G, XM_017014965.2:c.5033C>T, XM_017014965.2:c.5033C>G, XM_017014965.1:c.5033C>T, XM_017014965.1:c.5033C>G, XM_017014964.3:c.5033C>T, XM_017014964.3:c.5033C>G, XM_017014964.2:c.5033C>T, XM_017014964.2:c.5033C>G, XM_017014964.1:c.5033C>T, XM_017014964.1:c.5033C>G, XM_017014963.3:c.5033C>T, XM_017014963.3:c.5033C>G, XM_017014963.2:c.5033C>T, XM_017014963.2:c.5033C>G, XM_017014963.1:c.5033C>T, XM_017014963.1:c.5033C>G, XM_017014966.3:c.5027C>T, XM_017014966.3:c.5027C>G, XM_017014966.2:c.5027C>T, XM_017014966.2:c.5027C>G, XM_017014966.1:c.5027C>T, XM_017014966.1:c.5027C>G, XM_017014967.3:c.5024C>T, XM_017014967.3:c.5024C>G, XM_017014967.2:c.5024C>T, XM_017014967.2:c.5024C>G, XM_017014967.1:c.5024C>T, XM_017014967.1:c.5024C>G, XM_017014968.3:c.5021C>T, XM_017014968.3:c.5021C>G, XM_017014968.2:c.5021C>T, XM_017014968.2:c.5021C>G, XM_017014968.1:c.5021C>T, XM_017014968.1:c.5021C>G, XM_017014970.3:c.5018C>T, XM_017014970.3:c.5018C>G, XM_017014970.2:c.5018C>T, XM_017014970.2:c.5018C>G, XM_017014970.1:c.5018C>T, XM_017014970.1:c.5018C>G, XM_017014969.3:c.5018C>T, XM_017014969.3:c.5018C>G, XM_017014969.2:c.5018C>T, XM_017014969.2:c.5018C>G, XM_017014969.1:c.5018C>T, XM_017014969.1:c.5018C>G, XM_017014972.3:c.5009C>T, XM_017014972.3:c.5009C>G, XM_017014972.2:c.5009C>T, XM_017014972.2:c.5009C>G, XM_017014972.1:c.5009C>T, XM_017014972.1:c.5009C>G, XM_017014971.3:c.5009C>T, XM_017014971.3:c.5009C>G, XM_017014971.2:c.5009C>T, XM_017014971.2:c.5009C>G, XM_017014971.1:c.5009C>T, XM_017014971.1:c.5009C>G, XM_017014974.3:c.5006C>T, XM_017014974.3:c.5006C>G, XM_017014974.2:c.5006C>T, XM_017014974.2:c.5006C>G, XM_017014974.1:c.5006C>T, XM_017014974.1:c.5006C>G, XM_017014977.3:c.4994C>T, XM_017014977.3:c.4994C>G, XM_017014977.2:c.4994C>T, XM_017014977.2:c.4994C>G, XM_017014977.1:c.4994C>T, XM_017014977.1:c.4994C>G, XM_017014976.3:c.4994C>T, XM_017014976.3:c.4994C>G, XM_017014976.2:c.4994C>T, XM_017014976.2:c.4994C>G, XM_017014976.1:c.4994C>T, XM_017014976.1:c.4994C>G, XM_017014978.3:c.4991C>T, XM_017014978.3:c.4991C>G, XM_017014978.2:c.4991C>T, XM_017014978.2:c.4991C>G, XM_017014978.1:c.4991C>T, XM_017014978.1:c.4991C>G, XM_017014979.3:c.4988C>T, XM_017014979.3:c.4988C>G, XM_017014979.2:c.4988C>T, XM_017014979.2:c.4988C>G, XM_017014979.1:c.4988C>T, XM_017014979.1:c.4988C>G, XM_017014961.3:c.5036C>T, XM_017014961.3:c.5036C>G, XM_017014961.2:c.5036C>T, XM_017014961.2:c.5036C>G, XM_017014961.1:c.5036C>T, XM_017014961.1:c.5036C>G, XM_017014980.3:c.4949C>T, XM_017014980.3:c.4949C>G, XM_017014980.2:c.4949C>T, XM_017014980.2:c.4949C>G, XM_017014980.1:c.4949C>T, XM_017014980.1:c.4949C>G, XM_017014982.3:c.3803C>T, XM_017014982.3:c.3803C>G, XM_017014982.2:c.3803C>T, XM_017014982.2:c.3803C>G, XM_017014982.1:c.3803C>T, XM_017014982.1:c.3803C>G, XM_017014983.3:c.3800C>T, XM_017014983.3:c.3800C>G, XM_017014983.2:c.3800C>T, XM_017014983.2:c.3800C>G, XM_017014983.1:c.3800C>T, XM_017014983.1:c.3800C>G, XM_024447625.2:c.5015C>T, XM_024447625.2:c.5015C>G, XM_024447625.1:c.5015C>T, XM_024447625.1:c.5015C>G, XM_047423641.1:c.5036C>T, XM_047423641.1:c.5036C>G, XM_047423642.1:c.5018C>T, XM_047423642.1:c.5018C>G, XM_047423644.1:c.4991C>T, XM_047423644.1:c.4991C>G, XM_047423645.1:c.4979C>T, XM_047423645.1:c.4979C>G, XM_047423647.1:c.4973C>T, XM_047423647.1:c.4973C>G, XM_047423649.1:c.4961C>T, XM_047423649.1:c.4961C>G, XM_047423651.1:c.4952C>T, XM_047423651.1:c.4952C>G, XM_047423650.1:c.4952C>T, XM_047423650.1:c.4952C>G, XM_047423652.1:c.4949C>T, XM_047423652.1:c.4949C>G, XM_047423654.1:c.4946C>T, XM_047423654.1:c.4946C>G, XM_047423653.1:c.4946C>T, XM_047423653.1:c.4946C>G, XM_047423657.1:c.4934C>T, XM_047423657.1:c.4934C>G, XM_047423643.1:c.4997C>T, XM_047423643.1:c.4997C>G, XM_047423646.1:c.4976C>T, XM_047423646.1:c.4976C>G, XM_047423648.1:c.4967C>T, XM_047423648.1:c.4967C>G, XM_047423655.1:c.4940C>T, XM_047423655.1:c.4940C>G, XM_047423656.1:c.4937C>T, XM_047423656.1:c.4937C>G, XM_047423658.1:c.4913C>T, XM_047423658.1:c.4913C>G, XM_047423659.1:c.4910C>T, XM_047423659.1:c.4910C>G, XM_047423660.1:c.4907C>T, XM_047423660.1:c.4907C>G, NP_002830.1:p.Ser1659Leu, NP_002830.1:p.Ser1659Ter, NP_569075.2:p.Ser1252Leu, NP_569075.2:p.Ser1252Ter, NP_569076.2:p.Ser1253Leu, NP_569076.2:p.Ser1253Ter, NP_569077.2:p.Ser1243Leu, NP_569077.2:p.Ser1243Ter, NP_001164496.1:p.Ser1252Leu, NP_001164496.1:p.Ser1252Ter, NP_001035802.1:p.Ser1249Leu, NP_001035802.1:p.Ser1249Ter, NP_001364887.1:p.Ser1679Leu, NP_001364887.1:p.Ser1679Ter, NP_001364987.1:p.Ser1664Leu, NP_001364987.1:p.Ser1664Ter, NP_001364876.1:p.Ser1246Leu, NP_001364876.1:p.Ser1246Ter, NP_001364875.1:p.Ser1256Leu, NP_001364875.1:p.Ser1256Ter, XP_006716880.1:p.Ser1676Leu, XP_006716880.1:p.Ser1676Ter, XP_006716888.1:p.Ser1659Leu, XP_006716888.1:p.Ser1659Ter, XP_006716890.1:p.Ser1640Leu, XP_006716890.1:p.Ser1640Ter, XP_006716886.1:p.Ser1660Leu, XP_006716886.1:p.Ser1660Ter, XP_016870447.1:p.Ser1679Leu, XP_016870447.1:p.Ser1679Ter, XP_016870454.1:p.Ser1678Leu, XP_016870454.1:p.Ser1678Ter, XP_016870453.1:p.Ser1678Leu, XP_016870453.1:p.Ser1678Ter, XP_016870452.1:p.Ser1678Leu, XP_016870452.1:p.Ser1678Ter, XP_016870455.1:p.Ser1676Leu, XP_016870455.1:p.Ser1676Ter, XP_016870456.1:p.Ser1675Leu, XP_016870456.1:p.Ser1675Ter, XP_016870457.1:p.Ser1674Leu, XP_016870457.1:p.Ser1674Ter, XP_016870459.1:p.Ser1673Leu, XP_016870459.1:p.Ser1673Ter, XP_016870458.1:p.Ser1673Leu, XP_016870458.1:p.Ser1673Ter, XP_016870461.1:p.Ser1670Leu, XP_016870461.1:p.Ser1670Ter, XP_016870460.1:p.Ser1670Leu, XP_016870460.1:p.Ser1670Ter, XP_016870463.1:p.Ser1669Leu, XP_016870463.1:p.Ser1669Ter, XP_016870466.1:p.Ser1665Leu, XP_016870466.1:p.Ser1665Ter, XP_016870465.1:p.Ser1665Leu, XP_016870465.1:p.Ser1665Ter, XP_016870467.1:p.Ser1664Leu, XP_016870467.1:p.Ser1664Ter, XP_016870468.1:p.Ser1663Leu, XP_016870468.1:p.Ser1663Ter, XP_016870450.1:p.Ser1679Leu, XP_016870450.1:p.Ser1679Ter, XP_016870469.1:p.Ser1650Leu, XP_016870469.1:p.Ser1650Ter, XP_016870471.1:p.Ser1268Leu, XP_016870471.1:p.Ser1268Ter, XP_016870472.1:p.Ser1267Leu, XP_016870472.1:p.Ser1267Ter, XP_024303393.1:p.Ser1672Leu, XP_024303393.1:p.Ser1672Ter, XP_047279597.1:p.Ser1679Leu, XP_047279597.1:p.Ser1679Ter, XP_047279598.1:p.Ser1673Leu, XP_047279598.1:p.Ser1673Ter, XP_047279600.1:p.Ser1664Leu, XP_047279600.1:p.Ser1664Ter, XP_047279601.1:p.Ser1660Leu, XP_047279601.1:p.Ser1660Ter, XP_047279603.1:p.Ser1658Leu, XP_047279603.1:p.Ser1658Ter, XP_047279605.1:p.Ser1654Leu, XP_047279605.1:p.Ser1654Ter, XP_047279607.1:p.Ser1651Leu, XP_047279607.1:p.Ser1651Ter, XP_047279606.1:p.Ser1651Leu, XP_047279606.1:p.Ser1651Ter, XP_047279608.1:p.Ser1650Leu, XP_047279608.1:p.Ser1650Ter, XP_047279610.1:p.Ser1649Leu, XP_047279610.1:p.Ser1649Ter, XP_047279609.1:p.Ser1649Leu, XP_047279609.1:p.Ser1649Ter, XP_047279613.1:p.Ser1645Leu, XP_047279613.1:p.Ser1645Ter, XP_047279599.1:p.Ser1666Leu, XP_047279599.1:p.Ser1666Ter, XP_047279602.1:p.Ser1659Leu, XP_047279602.1:p.Ser1659Ter, XP_047279604.1:p.Ser1656Leu, XP_047279604.1:p.Ser1656Ter, XP_047279611.1:p.Ser1647Leu, XP_047279611.1:p.Ser1647Ter, XP_047279612.1:p.Ser1646Leu, XP_047279612.1:p.Ser1646Ter, XP_047279614.1:p.Ser1638Leu, XP_047279614.1:p.Ser1638Ter, XP_047279615.1:p.Ser1637Leu, XP_047279615.1:p.Ser1637Ter, XP_047279616.1:p.Ser1636Leu, XP_047279616.1:p.Ser1636Ter

                    10.

                    rs1487661697 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A,C [Show Flanks]
                      Chromosome:
                      9:8404652 (GRCh38)
                      9:8404652 (GRCh37)
                      Canonical SPDI:
                      NC_000009.12:8404651:G:A,NC_000009.12:8404651:G:C
                      Gene:
                      PTPRD (Varview)
                      Functional Consequence:
                      coding_sequence_variant,synonymous_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      A=0.000004/1 (GnomAD_exomes)
                      C=0.000004/1 (TOPMED)
                      C=0.000007/1 (GnomAD)
                      HGVS:
                      NC_000009.12:g.8404652G>A, NC_000009.12:g.8404652G>C, NC_000009.11:g.8404652G>A, NC_000009.11:g.8404652G>C, NG_033963.1:g.2213072C>T, NG_033963.1:g.2213072C>G, NM_002839.4:c.4095C>T, NM_002839.4:c.4095C>G, NM_002839.3:c.4095C>T, NM_002839.3:c.4095C>G, NM_130391.4:c.2874C>T, NM_130391.4:c.2874C>G, NM_130391.3:c.2874C>T, NM_130391.3:c.2874C>G, NM_130392.3:c.2877C>T, NM_130392.3:c.2877C>G, NM_130393.3:c.2847C>T, NM_130393.3:c.2847C>G, NM_001171025.2:c.2874C>T, NM_001171025.2:c.2874C>G, NM_001171025.1:c.2874C>T, NM_001171025.1:c.2874C>G, NM_001040712.2:c.2865C>T, NM_001040712.2:c.2865C>G, NM_001377958.1:c.4155C>T, NM_001377958.1:c.4155C>G, NM_001378058.1:c.4110C>T, NM_001378058.1:c.4110C>G, NM_001377947.1:c.2856C>T, NM_001377947.1:c.2856C>G, NM_001377946.1:c.2886C>T, NM_001377946.1:c.2886C>G, XM_006716817.5:c.4146C>T, XM_006716817.5:c.4146C>G, XM_006716817.4:c.4146C>T, XM_006716817.4:c.4146C>G, XM_006716817.3:c.4146C>T, XM_006716817.3:c.4146C>G, XM_006716817.2:c.4146C>T, XM_006716817.2:c.4146C>G, XM_006716817.1:c.4146C>T, XM_006716817.1:c.4146C>G, XM_006716825.5:c.4095C>T, XM_006716825.5:c.4095C>G, XM_006716825.4:c.4095C>T, XM_006716825.4:c.4095C>G, XM_006716825.3:c.4095C>T, XM_006716825.3:c.4095C>G, XM_006716825.2:c.4095C>T, XM_006716825.2:c.4095C>G, XM_006716825.1:c.4095C>T, XM_006716825.1:c.4095C>G, XM_006716827.5:c.4038C>T, XM_006716827.5:c.4038C>G, XM_006716827.4:c.4038C>T, XM_006716827.4:c.4038C>G, XM_006716827.3:c.4038C>T, XM_006716827.3:c.4038C>G, XM_006716827.2:c.4038C>T, XM_006716827.2:c.4038C>G, XM_006716827.1:c.4038C>T, XM_006716827.1:c.4038C>G, XM_006716823.4:c.4098C>T, XM_006716823.4:c.4098C>G, XM_006716823.3:c.4098C>T, XM_006716823.3:c.4098C>G, XM_006716823.2:c.4098C>T, XM_006716823.2:c.4098C>G, XM_006716823.1:c.4098C>T, XM_006716823.1:c.4098C>G, XM_017014958.3:c.4155C>T, XM_017014958.3:c.4155C>G, XM_017014958.2:c.4155C>T, XM_017014958.2:c.4155C>G, XM_017014958.1:c.4155C>T, XM_017014958.1:c.4155C>G, XM_017014965.3:c.4152C>T, XM_017014965.3:c.4152C>G, XM_017014965.2:c.4152C>T, XM_017014965.2:c.4152C>G, XM_017014965.1:c.4152C>T, XM_017014965.1:c.4152C>G, XM_017014964.3:c.4152C>T, XM_017014964.3:c.4152C>G, XM_017014964.2:c.4152C>T, XM_017014964.2:c.4152C>G, XM_017014964.1:c.4152C>T, XM_017014964.1:c.4152C>G, XM_017014963.3:c.4152C>T, XM_017014963.3:c.4152C>G, XM_017014963.2:c.4152C>T, XM_017014963.2:c.4152C>G, XM_017014963.1:c.4152C>T, XM_017014963.1:c.4152C>G, XM_017014966.3:c.4146C>T, XM_017014966.3:c.4146C>G, XM_017014966.2:c.4146C>T, XM_017014966.2:c.4146C>G, XM_017014966.1:c.4146C>T, XM_017014966.1:c.4146C>G, XM_017014967.3:c.4143C>T, XM_017014967.3:c.4143C>G, XM_017014967.2:c.4143C>T, XM_017014967.2:c.4143C>G, XM_017014967.1:c.4143C>T, XM_017014967.1:c.4143C>G, XM_017014968.3:c.4140C>T, XM_017014968.3:c.4140C>G, XM_017014968.2:c.4140C>T, XM_017014968.2:c.4140C>G, XM_017014968.1:c.4140C>T, XM_017014968.1:c.4140C>G, XM_017014970.3:c.4137C>T, XM_017014970.3:c.4137C>G, XM_017014970.2:c.4137C>T, XM_017014970.2:c.4137C>G, XM_017014970.1:c.4137C>T, XM_017014970.1:c.4137C>G, XM_017014969.3:c.4137C>T, XM_017014969.3:c.4137C>G, XM_017014969.2:c.4137C>T, XM_017014969.2:c.4137C>G, XM_017014969.1:c.4137C>T, XM_017014969.1:c.4137C>G, XM_017014972.3:c.4128C>T, XM_017014972.3:c.4128C>G, XM_017014972.2:c.4128C>T, XM_017014972.2:c.4128C>G, XM_017014972.1:c.4128C>T, XM_017014972.1:c.4128C>G, XM_017014971.3:c.4128C>T, XM_017014971.3:c.4128C>G, XM_017014971.2:c.4128C>T, XM_017014971.2:c.4128C>G, XM_017014971.1:c.4128C>T, XM_017014971.1:c.4128C>G, XM_017014974.3:c.4125C>T, XM_017014974.3:c.4125C>G, XM_017014974.2:c.4125C>T, XM_017014974.2:c.4125C>G, XM_017014974.1:c.4125C>T, XM_017014974.1:c.4125C>G, XM_017014977.3:c.4113C>T, XM_017014977.3:c.4113C>G, XM_017014977.2:c.4113C>T, XM_017014977.2:c.4113C>G, XM_017014977.1:c.4113C>T, XM_017014977.1:c.4113C>G, XM_017014976.3:c.4113C>T, XM_017014976.3:c.4113C>G, XM_017014976.2:c.4113C>T, XM_017014976.2:c.4113C>G, XM_017014976.1:c.4113C>T, XM_017014976.1:c.4113C>G, XM_017014978.3:c.4110C>T, XM_017014978.3:c.4110C>G, XM_017014978.2:c.4110C>T, XM_017014978.2:c.4110C>G, XM_017014978.1:c.4110C>T, XM_017014978.1:c.4110C>G, XM_017014979.3:c.4107C>T, XM_017014979.3:c.4107C>G, XM_017014979.2:c.4107C>T, XM_017014979.2:c.4107C>G, XM_017014979.1:c.4107C>T, XM_017014979.1:c.4107C>G, XM_017014961.3:c.4155C>T, XM_017014961.3:c.4155C>G, XM_017014961.2:c.4155C>T, XM_017014961.2:c.4155C>G, XM_017014961.1:c.4155C>T, XM_017014961.1:c.4155C>G, XM_017014980.3:c.4068C>T, XM_017014980.3:c.4068C>G, XM_017014980.2:c.4068C>T, XM_017014980.2:c.4068C>G, XM_017014980.1:c.4068C>T, XM_017014980.1:c.4068C>G, XM_017014982.3:c.2922C>T, XM_017014982.3:c.2922C>G, XM_017014982.2:c.2922C>T, XM_017014982.2:c.2922C>G, XM_017014982.1:c.2922C>T, XM_017014982.1:c.2922C>G, XM_017014983.3:c.2919C>T, XM_017014983.3:c.2919C>G, XM_017014983.2:c.2919C>T, XM_017014983.2:c.2919C>G, XM_017014983.1:c.2919C>T, XM_017014983.1:c.2919C>G, XM_024447625.2:c.4134C>T, XM_024447625.2:c.4134C>G, XM_024447625.1:c.4134C>T, XM_024447625.1:c.4134C>G, XM_047423641.1:c.4155C>T, XM_047423641.1:c.4155C>G, XM_047423642.1:c.4137C>T, XM_047423642.1:c.4137C>G, XM_047423644.1:c.4110C>T, XM_047423644.1:c.4110C>G, XM_047423645.1:c.4098C>T, XM_047423645.1:c.4098C>G, XM_047423647.1:c.4092C>T, XM_047423647.1:c.4092C>G, XM_047423649.1:c.4080C>T, XM_047423649.1:c.4080C>G, XM_047423651.1:c.4071C>T, XM_047423651.1:c.4071C>G, XM_047423650.1:c.4071C>T, XM_047423650.1:c.4071C>G, XM_047423652.1:c.4068C>T, XM_047423652.1:c.4068C>G, XM_047423654.1:c.4065C>T, XM_047423654.1:c.4065C>G, XM_047423653.1:c.4065C>T, XM_047423653.1:c.4065C>G, XM_047423657.1:c.4053C>T, XM_047423657.1:c.4053C>G, XM_047423643.1:c.4116C>T, XM_047423643.1:c.4116C>G, XM_047423646.1:c.4095C>T, XM_047423646.1:c.4095C>G, XM_047423648.1:c.4086C>T, XM_047423648.1:c.4086C>G, XM_047423655.1:c.4059C>T, XM_047423655.1:c.4059C>G, XM_047423656.1:c.4056C>T, XM_047423656.1:c.4056C>G, XM_047423658.1:c.4032C>T, XM_047423658.1:c.4032C>G, XM_047423659.1:c.4029C>T, XM_047423659.1:c.4029C>G, XM_047423660.1:c.4026C>T, XM_047423660.1:c.4026C>G, NP_002830.1:p.Asp1365Glu, NP_569075.2:p.Asp958Glu, NP_569076.2:p.Asp959Glu, NP_569077.2:p.Asp949Glu, NP_001164496.1:p.Asp958Glu, NP_001035802.1:p.Asp955Glu, NP_001364887.1:p.Asp1385Glu, NP_001364987.1:p.Asp1370Glu, NP_001364876.1:p.Asp952Glu, NP_001364875.1:p.Asp962Glu, XP_006716880.1:p.Asp1382Glu, XP_006716888.1:p.Asp1365Glu, XP_006716890.1:p.Asp1346Glu, XP_006716886.1:p.Asp1366Glu, XP_016870447.1:p.Asp1385Glu, XP_016870454.1:p.Asp1384Glu, XP_016870453.1:p.Asp1384Glu, XP_016870452.1:p.Asp1384Glu, XP_016870455.1:p.Asp1382Glu, XP_016870456.1:p.Asp1381Glu, XP_016870457.1:p.Asp1380Glu, XP_016870459.1:p.Asp1379Glu, XP_016870458.1:p.Asp1379Glu, XP_016870461.1:p.Asp1376Glu, XP_016870460.1:p.Asp1376Glu, XP_016870463.1:p.Asp1375Glu, XP_016870466.1:p.Asp1371Glu, XP_016870465.1:p.Asp1371Glu, XP_016870467.1:p.Asp1370Glu, XP_016870468.1:p.Asp1369Glu, XP_016870450.1:p.Asp1385Glu, XP_016870469.1:p.Asp1356Glu, XP_016870471.1:p.Asp974Glu, XP_016870472.1:p.Asp973Glu, XP_024303393.1:p.Asp1378Glu, XP_047279597.1:p.Asp1385Glu, XP_047279598.1:p.Asp1379Glu, XP_047279600.1:p.Asp1370Glu, XP_047279601.1:p.Asp1366Glu, XP_047279603.1:p.Asp1364Glu, XP_047279605.1:p.Asp1360Glu, XP_047279607.1:p.Asp1357Glu, XP_047279606.1:p.Asp1357Glu, XP_047279608.1:p.Asp1356Glu, XP_047279610.1:p.Asp1355Glu, XP_047279609.1:p.Asp1355Glu, XP_047279613.1:p.Asp1351Glu, XP_047279599.1:p.Asp1372Glu, XP_047279602.1:p.Asp1365Glu, XP_047279604.1:p.Asp1362Glu, XP_047279611.1:p.Asp1353Glu, XP_047279612.1:p.Asp1352Glu, XP_047279614.1:p.Asp1344Glu, XP_047279615.1:p.Asp1343Glu, XP_047279616.1:p.Asp1342Glu

                      11.

                      rs1487419449 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        9:8492916 (GRCh38)
                        9:8492916 (GRCh37)
                        Canonical SPDI:
                        NC_000009.12:8492915:T:C
                        Gene:
                        PTPRD (Varview)
                        Functional Consequence:
                        coding_sequence_variant,intron_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.000071/1 (ALFA)
                        C=0.000007/1 (GnomAD)
                        C=0.000008/2 (TOPMED)
                        HGVS:
                        NC_000009.12:g.8492916T>C, NC_000009.11:g.8492916T>C, NG_033963.1:g.2124808A>G, NM_002839.4:c.2413A>G, NM_002839.3:c.2413A>G, NM_001377958.1:c.2413A>G, NM_001378058.1:c.2413A>G, XM_006716817.5:c.2413A>G, XM_006716817.4:c.2413A>G, XM_006716817.3:c.2413A>G, XM_006716817.2:c.2413A>G, XM_006716817.1:c.2413A>G, XM_006716825.5:c.2413A>G, XM_006716825.4:c.2413A>G, XM_006716825.3:c.2413A>G, XM_006716825.2:c.2413A>G, XM_006716825.1:c.2413A>G, XM_006716827.5:c.2347A>G, XM_006716827.4:c.2347A>G, XM_006716827.3:c.2347A>G, XM_006716827.2:c.2347A>G, XM_006716827.1:c.2347A>G, XM_006716823.4:c.2413A>G, XM_006716823.3:c.2413A>G, XM_006716823.2:c.2413A>G, XM_006716823.1:c.2413A>G, XM_017014958.3:c.2413A>G, XM_017014958.2:c.2413A>G, XM_017014958.1:c.2413A>G, XM_017014965.3:c.2413A>G, XM_017014965.2:c.2413A>G, XM_017014965.1:c.2413A>G, XM_017014964.3:c.2413A>G, XM_017014964.2:c.2413A>G, XM_017014964.1:c.2413A>G, XM_017014963.3:c.2413A>G, XM_017014963.2:c.2413A>G, XM_017014963.1:c.2413A>G, XM_017014966.3:c.2404A>G, XM_017014966.2:c.2404A>G, XM_017014966.1:c.2404A>G, XM_017014967.3:c.2401A>G, XM_017014967.2:c.2401A>G, XM_017014967.1:c.2401A>G, XM_017014968.3:c.2413A>G, XM_017014968.2:c.2413A>G, XM_017014968.1:c.2413A>G, XM_017014970.3:c.2413A>G, XM_017014970.2:c.2413A>G, XM_017014970.1:c.2413A>G, XM_017014969.3:c.2395A>G, XM_017014969.2:c.2395A>G, XM_017014969.1:c.2395A>G, XM_017014972.3:c.2386A>G, XM_017014972.2:c.2386A>G, XM_017014972.1:c.2386A>G, XM_017014971.3:c.2386A>G, XM_017014971.2:c.2386A>G, XM_017014971.1:c.2386A>G, XM_017014974.3:c.2386A>G, XM_017014974.2:c.2386A>G, XM_017014974.1:c.2386A>G, XM_017014977.3:c.2386A>G, XM_017014977.2:c.2386A>G, XM_017014977.1:c.2386A>G, XM_017014976.3:c.2413A>G, XM_017014976.2:c.2413A>G, XM_017014976.1:c.2413A>G, XM_017014978.3:c.2413A>G, XM_017014978.2:c.2413A>G, XM_017014978.1:c.2413A>G, XM_017014979.3:c.2413A>G, XM_017014979.2:c.2413A>G, XM_017014979.1:c.2413A>G, XM_017014961.3:c.2413A>G, XM_017014961.2:c.2413A>G, XM_017014961.1:c.2413A>G, XM_017014980.3:c.2386A>G, XM_017014980.2:c.2386A>G, XM_017014980.1:c.2386A>G, XM_024447625.2:c.2392A>G, XM_024447625.1:c.2392A>G, XM_047423641.1:c.2413A>G, XM_047423642.1:c.2413A>G, XM_047423644.1:c.2386A>G, XM_047423645.1:c.2374A>G, XM_047423647.1:c.2413A>G, XM_047423649.1:c.2347A>G, XM_047423651.1:c.2347A>G, XM_047423650.1:c.2386A>G, XM_047423652.1:c.2386A>G, XM_047423654.1:c.2386A>G, XM_047423653.1:c.2374A>G, XM_047423657.1:c.2374A>G, XM_047423643.1:c.2374A>G, XM_047423646.1:c.2374A>G, XM_047423648.1:c.2347A>G, XM_047423655.1:c.2374A>G, XM_047423656.1:c.2374A>G, XM_047423658.1:c.2347A>G, XM_047423659.1:c.2347A>G, XM_047423660.1:c.2347A>G, NP_002830.1:p.Thr805Ala, NP_001364887.1:p.Thr805Ala, NP_001364987.1:p.Thr805Ala, XP_006716880.1:p.Thr805Ala, XP_006716888.1:p.Thr805Ala, XP_006716890.1:p.Thr783Ala, XP_006716886.1:p.Thr805Ala, XP_016870447.1:p.Thr805Ala, XP_016870454.1:p.Thr805Ala, XP_016870453.1:p.Thr805Ala, XP_016870452.1:p.Thr805Ala, XP_016870455.1:p.Thr802Ala, XP_016870456.1:p.Thr801Ala, XP_016870457.1:p.Thr805Ala, XP_016870459.1:p.Thr805Ala, XP_016870458.1:p.Thr799Ala, XP_016870461.1:p.Thr796Ala, XP_016870460.1:p.Thr796Ala, XP_016870463.1:p.Thr796Ala, XP_016870466.1:p.Thr796Ala, XP_016870465.1:p.Thr805Ala, XP_016870467.1:p.Thr805Ala, XP_016870468.1:p.Thr805Ala, XP_016870450.1:p.Thr805Ala, XP_016870469.1:p.Thr796Ala, XP_024303393.1:p.Thr798Ala, XP_047279597.1:p.Thr805Ala, XP_047279598.1:p.Thr805Ala, XP_047279600.1:p.Thr796Ala, XP_047279601.1:p.Thr792Ala, XP_047279603.1:p.Thr805Ala, XP_047279605.1:p.Thr783Ala, XP_047279607.1:p.Thr783Ala, XP_047279606.1:p.Thr796Ala, XP_047279608.1:p.Thr796Ala, XP_047279610.1:p.Thr796Ala, XP_047279609.1:p.Thr792Ala, XP_047279613.1:p.Thr792Ala, XP_047279599.1:p.Thr792Ala, XP_047279602.1:p.Thr792Ala, XP_047279604.1:p.Thr783Ala, XP_047279611.1:p.Thr792Ala, XP_047279612.1:p.Thr792Ala, XP_047279614.1:p.Thr783Ala, XP_047279615.1:p.Thr783Ala, XP_047279616.1:p.Thr783Ala

                        12.

                        rs1486384359 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>C,T [Show Flanks]
                          Chromosome:
                          9:8485920 (GRCh38)
                          9:8485920 (GRCh37)
                          Canonical SPDI:
                          NC_000009.12:8485919:A:C,NC_000009.12:8485919:A:T
                          Gene:
                          PTPRD (Varview)
                          Functional Consequence:
                          coding_sequence_variant,intron_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000007/1 (GnomAD)
                          C=0.000008/2 (TOPMED)
                          HGVS:
                          NC_000009.12:g.8485920A>C, NC_000009.12:g.8485920A>T, NC_000009.11:g.8485920A>C, NC_000009.11:g.8485920A>T, NG_033963.1:g.2131804T>G, NG_033963.1:g.2131804T>A, NM_002839.4:c.2897T>G, NM_002839.4:c.2897T>A, NM_002839.3:c.2897T>G, NM_002839.3:c.2897T>A, NM_001377958.1:c.2897T>G, NM_001377958.1:c.2897T>A, NM_001378058.1:c.2897T>G, NM_001378058.1:c.2897T>A, XM_006716817.5:c.2897T>G, XM_006716817.5:c.2897T>A, XM_006716817.4:c.2897T>G, XM_006716817.4:c.2897T>A, XM_006716817.3:c.2897T>G, XM_006716817.3:c.2897T>A, XM_006716817.2:c.2897T>G, XM_006716817.2:c.2897T>A, XM_006716817.1:c.2897T>G, XM_006716817.1:c.2897T>A, XM_006716825.5:c.2897T>G, XM_006716825.5:c.2897T>A, XM_006716825.4:c.2897T>G, XM_006716825.4:c.2897T>A, XM_006716825.3:c.2897T>G, XM_006716825.3:c.2897T>A, XM_006716825.2:c.2897T>G, XM_006716825.2:c.2897T>A, XM_006716825.1:c.2897T>G, XM_006716825.1:c.2897T>A, XM_006716827.5:c.2831T>G, XM_006716827.5:c.2831T>A, XM_006716827.4:c.2831T>G, XM_006716827.4:c.2831T>A, XM_006716827.3:c.2831T>G, XM_006716827.3:c.2831T>A, XM_006716827.2:c.2831T>G, XM_006716827.2:c.2831T>A, XM_006716827.1:c.2831T>G, XM_006716827.1:c.2831T>A, XM_006716823.4:c.2897T>G, XM_006716823.4:c.2897T>A, XM_006716823.3:c.2897T>G, XM_006716823.3:c.2897T>A, XM_006716823.2:c.2897T>G, XM_006716823.2:c.2897T>A, XM_006716823.1:c.2897T>G, XM_006716823.1:c.2897T>A, XM_017014958.3:c.2897T>G, XM_017014958.3:c.2897T>A, XM_017014958.2:c.2897T>G, XM_017014958.2:c.2897T>A, XM_017014958.1:c.2897T>G, XM_017014958.1:c.2897T>A, XM_017014965.3:c.2897T>G, XM_017014965.3:c.2897T>A, XM_017014965.2:c.2897T>G, XM_017014965.2:c.2897T>A, XM_017014965.1:c.2897T>G, XM_017014965.1:c.2897T>A, XM_017014964.3:c.2897T>G, XM_017014964.3:c.2897T>A, XM_017014964.2:c.2897T>G, XM_017014964.2:c.2897T>A, XM_017014964.1:c.2897T>G, XM_017014964.1:c.2897T>A, XM_017014963.3:c.2897T>G, XM_017014963.3:c.2897T>A, XM_017014963.2:c.2897T>G, XM_017014963.2:c.2897T>A, XM_017014963.1:c.2897T>G, XM_017014963.1:c.2897T>A, XM_017014966.3:c.2888T>G, XM_017014966.3:c.2888T>A, XM_017014966.2:c.2888T>G, XM_017014966.2:c.2888T>A, XM_017014966.1:c.2888T>G, XM_017014966.1:c.2888T>A, XM_017014967.3:c.2885T>G, XM_017014967.3:c.2885T>A, XM_017014967.2:c.2885T>G, XM_017014967.2:c.2885T>A, XM_017014967.1:c.2885T>G, XM_017014967.1:c.2885T>A, XM_017014968.3:c.2897T>G, XM_017014968.3:c.2897T>A, XM_017014968.2:c.2897T>G, XM_017014968.2:c.2897T>A, XM_017014968.1:c.2897T>G, XM_017014968.1:c.2897T>A, XM_017014970.3:c.2897T>G, XM_017014970.3:c.2897T>A, XM_017014970.2:c.2897T>G, XM_017014970.2:c.2897T>A, XM_017014970.1:c.2897T>G, XM_017014970.1:c.2897T>A, XM_017014969.3:c.2879T>G, XM_017014969.3:c.2879T>A, XM_017014969.2:c.2879T>G, XM_017014969.2:c.2879T>A, XM_017014969.1:c.2879T>G, XM_017014969.1:c.2879T>A, XM_017014972.3:c.2870T>G, XM_017014972.3:c.2870T>A, XM_017014972.2:c.2870T>G, XM_017014972.2:c.2870T>A, XM_017014972.1:c.2870T>G, XM_017014972.1:c.2870T>A, XM_017014971.3:c.2870T>G, XM_017014971.3:c.2870T>A, XM_017014971.2:c.2870T>G, XM_017014971.2:c.2870T>A, XM_017014971.1:c.2870T>G, XM_017014971.1:c.2870T>A, XM_017014974.3:c.2870T>G, XM_017014974.3:c.2870T>A, XM_017014974.2:c.2870T>G, XM_017014974.2:c.2870T>A, XM_017014974.1:c.2870T>G, XM_017014974.1:c.2870T>A, XM_017014977.3:c.2870T>G, XM_017014977.3:c.2870T>A, XM_017014977.2:c.2870T>G, XM_017014977.2:c.2870T>A, XM_017014977.1:c.2870T>G, XM_017014977.1:c.2870T>A, XM_017014976.3:c.2897T>G, XM_017014976.3:c.2897T>A, XM_017014976.2:c.2897T>G, XM_017014976.2:c.2897T>A, XM_017014976.1:c.2897T>G, XM_017014976.1:c.2897T>A, XM_017014978.3:c.2897T>G, XM_017014978.3:c.2897T>A, XM_017014978.2:c.2897T>G, XM_017014978.2:c.2897T>A, XM_017014978.1:c.2897T>G, XM_017014978.1:c.2897T>A, XM_017014979.3:c.2897T>G, XM_017014979.3:c.2897T>A, XM_017014979.2:c.2897T>G, XM_017014979.2:c.2897T>A, XM_017014979.1:c.2897T>G, XM_017014979.1:c.2897T>A, XM_017014961.3:c.2897T>G, XM_017014961.3:c.2897T>A, XM_017014961.2:c.2897T>G, XM_017014961.2:c.2897T>A, XM_017014961.1:c.2897T>G, XM_017014961.1:c.2897T>A, XM_017014980.3:c.2870T>G, XM_017014980.3:c.2870T>A, XM_017014980.2:c.2870T>G, XM_017014980.2:c.2870T>A, XM_017014980.1:c.2870T>G, XM_017014980.1:c.2870T>A, XM_024447625.2:c.2876T>G, XM_024447625.2:c.2876T>A, XM_024447625.1:c.2876T>G, XM_024447625.1:c.2876T>A, XM_047423641.1:c.2897T>G, XM_047423641.1:c.2897T>A, XM_047423642.1:c.2897T>G, XM_047423642.1:c.2897T>A, XM_047423644.1:c.2870T>G, XM_047423644.1:c.2870T>A, XM_047423645.1:c.2858T>G, XM_047423645.1:c.2858T>A, XM_047423647.1:c.2897T>G, XM_047423647.1:c.2897T>A, XM_047423649.1:c.2831T>G, XM_047423649.1:c.2831T>A, XM_047423651.1:c.2831T>G, XM_047423651.1:c.2831T>A, XM_047423650.1:c.2870T>G, XM_047423650.1:c.2870T>A, XM_047423652.1:c.2870T>G, XM_047423652.1:c.2870T>A, XM_047423654.1:c.2870T>G, XM_047423654.1:c.2870T>A, XM_047423653.1:c.2858T>G, XM_047423653.1:c.2858T>A, XM_047423657.1:c.2858T>G, XM_047423657.1:c.2858T>A, XM_047423643.1:c.2858T>G, XM_047423643.1:c.2858T>A, XM_047423646.1:c.2858T>G, XM_047423646.1:c.2858T>A, XM_047423648.1:c.2831T>G, XM_047423648.1:c.2831T>A, XM_047423655.1:c.2858T>G, XM_047423655.1:c.2858T>A, XM_047423656.1:c.2858T>G, XM_047423656.1:c.2858T>A, XM_047423658.1:c.2831T>G, XM_047423658.1:c.2831T>A, XM_047423659.1:c.2831T>G, XM_047423659.1:c.2831T>A, XM_047423660.1:c.2831T>G, XM_047423660.1:c.2831T>A, NP_002830.1:p.Leu966Arg, NP_002830.1:p.Leu966His, NP_001364887.1:p.Leu966Arg, NP_001364887.1:p.Leu966His, NP_001364987.1:p.Leu966Arg, NP_001364987.1:p.Leu966His, XP_006716880.1:p.Leu966Arg, XP_006716880.1:p.Leu966His, XP_006716888.1:p.Leu966Arg, XP_006716888.1:p.Leu966His, XP_006716890.1:p.Leu944Arg, XP_006716890.1:p.Leu944His, XP_006716886.1:p.Leu966Arg, XP_006716886.1:p.Leu966His, XP_016870447.1:p.Leu966Arg, XP_016870447.1:p.Leu966His, XP_016870454.1:p.Leu966Arg, XP_016870454.1:p.Leu966His, XP_016870453.1:p.Leu966Arg, XP_016870453.1:p.Leu966His, XP_016870452.1:p.Leu966Arg, XP_016870452.1:p.Leu966His, XP_016870455.1:p.Leu963Arg, XP_016870455.1:p.Leu963His, XP_016870456.1:p.Leu962Arg, XP_016870456.1:p.Leu962His, XP_016870457.1:p.Leu966Arg, XP_016870457.1:p.Leu966His, XP_016870459.1:p.Leu966Arg, XP_016870459.1:p.Leu966His, XP_016870458.1:p.Leu960Arg, XP_016870458.1:p.Leu960His, XP_016870461.1:p.Leu957Arg, XP_016870461.1:p.Leu957His, XP_016870460.1:p.Leu957Arg, XP_016870460.1:p.Leu957His, XP_016870463.1:p.Leu957Arg, XP_016870463.1:p.Leu957His, XP_016870466.1:p.Leu957Arg, XP_016870466.1:p.Leu957His, XP_016870465.1:p.Leu966Arg, XP_016870465.1:p.Leu966His, XP_016870467.1:p.Leu966Arg, XP_016870467.1:p.Leu966His, XP_016870468.1:p.Leu966Arg, XP_016870468.1:p.Leu966His, XP_016870450.1:p.Leu966Arg, XP_016870450.1:p.Leu966His, XP_016870469.1:p.Leu957Arg, XP_016870469.1:p.Leu957His, XP_024303393.1:p.Leu959Arg, XP_024303393.1:p.Leu959His, XP_047279597.1:p.Leu966Arg, XP_047279597.1:p.Leu966His, XP_047279598.1:p.Leu966Arg, XP_047279598.1:p.Leu966His, XP_047279600.1:p.Leu957Arg, XP_047279600.1:p.Leu957His, XP_047279601.1:p.Leu953Arg, XP_047279601.1:p.Leu953His, XP_047279603.1:p.Leu966Arg, XP_047279603.1:p.Leu966His, XP_047279605.1:p.Leu944Arg, XP_047279605.1:p.Leu944His, XP_047279607.1:p.Leu944Arg, XP_047279607.1:p.Leu944His, XP_047279606.1:p.Leu957Arg, XP_047279606.1:p.Leu957His, XP_047279608.1:p.Leu957Arg, XP_047279608.1:p.Leu957His, XP_047279610.1:p.Leu957Arg, XP_047279610.1:p.Leu957His, XP_047279609.1:p.Leu953Arg, XP_047279609.1:p.Leu953His, XP_047279613.1:p.Leu953Arg, XP_047279613.1:p.Leu953His, XP_047279599.1:p.Leu953Arg, XP_047279599.1:p.Leu953His, XP_047279602.1:p.Leu953Arg, XP_047279602.1:p.Leu953His, XP_047279604.1:p.Leu944Arg, XP_047279604.1:p.Leu944His, XP_047279611.1:p.Leu953Arg, XP_047279611.1:p.Leu953His, XP_047279612.1:p.Leu953Arg, XP_047279612.1:p.Leu953His, XP_047279614.1:p.Leu944Arg, XP_047279614.1:p.Leu944His, XP_047279615.1:p.Leu944Arg, XP_047279615.1:p.Leu944His, XP_047279616.1:p.Leu944Arg, XP_047279616.1:p.Leu944His

                          13.

                          rs1486107383 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            9:8500962 (GRCh38)
                            9:8500962 (GRCh37)
                            Canonical SPDI:
                            NC_000009.12:8500961:G:A
                            Gene:
                            PTPRD (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000008/2 (TOPMED)
                            A=0.000014/2 (GnomAD)
                            HGVS:
                            NC_000009.12:g.8500962G>A, NC_000009.11:g.8500962G>A, NG_033963.1:g.2116762C>T, NM_002839.4:c.1920C>T, NM_002839.3:c.1920C>T, NM_001377958.1:c.1920C>T, NM_001378058.1:c.1920C>T, XM_006716817.5:c.1920C>T, XM_006716817.4:c.1920C>T, XM_006716817.3:c.1920C>T, XM_006716817.2:c.1920C>T, XM_006716817.1:c.1920C>T, XM_006716825.5:c.1920C>T, XM_006716825.4:c.1920C>T, XM_006716825.3:c.1920C>T, XM_006716825.2:c.1920C>T, XM_006716825.1:c.1920C>T, XM_006716827.5:c.1881C>T, XM_006716827.4:c.1881C>T, XM_006716827.3:c.1881C>T, XM_006716827.2:c.1881C>T, XM_006716827.1:c.1881C>T, XM_006716823.4:c.1920C>T, XM_006716823.3:c.1920C>T, XM_006716823.2:c.1920C>T, XM_006716823.1:c.1920C>T, XM_017014958.3:c.1920C>T, XM_017014958.2:c.1920C>T, XM_017014958.1:c.1920C>T, XM_017014965.3:c.1920C>T, XM_017014965.2:c.1920C>T, XM_017014965.1:c.1920C>T, XM_017014964.3:c.1920C>T, XM_017014964.2:c.1920C>T, XM_017014964.1:c.1920C>T, XM_017014963.3:c.1920C>T, XM_017014963.2:c.1920C>T, XM_017014963.1:c.1920C>T, XM_017014966.3:c.1911C>T, XM_017014966.2:c.1911C>T, XM_017014966.1:c.1911C>T, XM_017014967.3:c.1908C>T, XM_017014967.2:c.1908C>T, XM_017014967.1:c.1908C>T, XM_017014968.3:c.1920C>T, XM_017014968.2:c.1920C>T, XM_017014968.1:c.1920C>T, XM_017014970.3:c.1920C>T, XM_017014970.2:c.1920C>T, XM_017014970.1:c.1920C>T, XM_017014969.3:c.1902C>T, XM_017014969.2:c.1902C>T, XM_017014969.1:c.1902C>T, XM_017014972.3:c.1920C>T, XM_017014972.2:c.1920C>T, XM_017014972.1:c.1920C>T, XM_017014971.3:c.1893C>T, XM_017014971.2:c.1893C>T, XM_017014971.1:c.1893C>T, XM_017014974.3:c.1920C>T, XM_017014974.2:c.1920C>T, XM_017014974.1:c.1920C>T, XM_017014977.3:c.1920C>T, XM_017014977.2:c.1920C>T, XM_017014977.1:c.1920C>T, XM_017014976.3:c.1920C>T, XM_017014976.2:c.1920C>T, XM_017014976.1:c.1920C>T, XM_017014978.3:c.1920C>T, XM_017014978.2:c.1920C>T, XM_017014978.1:c.1920C>T, XM_017014979.3:c.1920C>T, XM_017014979.2:c.1920C>T, XM_017014979.1:c.1920C>T, XM_017014961.3:c.1920C>T, XM_017014961.2:c.1920C>T, XM_017014961.1:c.1920C>T, XM_017014980.3:c.1920C>T, XM_017014980.2:c.1920C>T, XM_017014980.1:c.1920C>T, XM_024447625.2:c.1899C>T, XM_024447625.1:c.1899C>T, XM_047423641.1:c.1920C>T, XM_047423642.1:c.1920C>T, XM_047423644.1:c.1920C>T, XM_047423645.1:c.1908C>T, XM_047423647.1:c.1920C>T, XM_047423649.1:c.1881C>T, XM_047423651.1:c.1881C>T, XM_047423650.1:c.1920C>T, XM_047423652.1:c.1920C>T, XM_047423654.1:c.1920C>T, XM_047423653.1:c.1881C>T, XM_047423657.1:c.1881C>T, XM_047423643.1:c.1881C>T, XM_047423646.1:c.1881C>T, XM_047423648.1:c.1881C>T, XM_047423655.1:c.1881C>T, XM_047423656.1:c.1881C>T, XM_047423658.1:c.1881C>T, XM_047423659.1:c.1881C>T, XM_047423660.1:c.1881C>T

                            14.

                            rs1485033877 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>A,G,T [Show Flanks]
                              Chromosome:
                              9:8340459 (GRCh38)
                              9:8340459 (GRCh37)
                              Canonical SPDI:
                              NC_000009.12:8340458:C:A,NC_000009.12:8340458:C:G,NC_000009.12:8340458:C:T
                              Gene:
                              PTPRD (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000047/1 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000009.12:g.8340459C>A, NC_000009.12:g.8340459C>G, NC_000009.12:g.8340459C>T, NC_000009.11:g.8340459C>A, NC_000009.11:g.8340459C>G, NC_000009.11:g.8340459C>T, NG_033963.1:g.2277265G>T, NG_033963.1:g.2277265G>C, NG_033963.1:g.2277265G>A, NM_002839.4:c.5137G>T, NM_002839.4:c.5137G>C, NM_002839.4:c.5137G>A, NM_002839.3:c.5137G>T, NM_002839.3:c.5137G>C, NM_002839.3:c.5137G>A, NM_130391.4:c.3916G>T, NM_130391.4:c.3916G>C, NM_130391.4:c.3916G>A, NM_130391.3:c.3916G>T, NM_130391.3:c.3916G>C, NM_130391.3:c.3916G>A, NM_130392.3:c.3919G>T, NM_130392.3:c.3919G>C, NM_130392.3:c.3919G>A, NM_130393.3:c.3889G>T, NM_130393.3:c.3889G>C, NM_130393.3:c.3889G>A, NM_001171025.2:c.3916G>T, NM_001171025.2:c.3916G>C, NM_001171025.2:c.3916G>A, NM_001171025.1:c.3916G>T, NM_001171025.1:c.3916G>C, NM_001171025.1:c.3916G>A, NM_001040712.2:c.3907G>T, NM_001040712.2:c.3907G>C, NM_001040712.2:c.3907G>A, NM_001377958.1:c.5197G>T, NM_001377958.1:c.5197G>C, NM_001377958.1:c.5197G>A, NM_001378058.1:c.5152G>T, NM_001378058.1:c.5152G>C, NM_001378058.1:c.5152G>A, NM_001377947.1:c.3898G>T, NM_001377947.1:c.3898G>C, NM_001377947.1:c.3898G>A, NM_001377946.1:c.3928G>T, NM_001377946.1:c.3928G>C, NM_001377946.1:c.3928G>A, XM_006716817.5:c.5188G>T, XM_006716817.5:c.5188G>C, XM_006716817.5:c.5188G>A, XM_006716817.4:c.5188G>T, XM_006716817.4:c.5188G>C, XM_006716817.4:c.5188G>A, XM_006716817.3:c.5188G>T, XM_006716817.3:c.5188G>C, XM_006716817.3:c.5188G>A, XM_006716817.2:c.5188G>T, XM_006716817.2:c.5188G>C, XM_006716817.2:c.5188G>A, XM_006716817.1:c.5188G>T, XM_006716817.1:c.5188G>C, XM_006716817.1:c.5188G>A, XM_006716825.5:c.5137G>T, XM_006716825.5:c.5137G>C, XM_006716825.5:c.5137G>A, XM_006716825.4:c.5137G>T, XM_006716825.4:c.5137G>C, XM_006716825.4:c.5137G>A, XM_006716825.3:c.5137G>T, XM_006716825.3:c.5137G>C, XM_006716825.3:c.5137G>A, XM_006716825.2:c.5137G>T, XM_006716825.2:c.5137G>C, XM_006716825.2:c.5137G>A, XM_006716825.1:c.5137G>T, XM_006716825.1:c.5137G>C, XM_006716825.1:c.5137G>A, XM_006716827.5:c.5080G>T, XM_006716827.5:c.5080G>C, XM_006716827.5:c.5080G>A, XM_006716827.4:c.5080G>T, XM_006716827.4:c.5080G>C, XM_006716827.4:c.5080G>A, XM_006716827.3:c.5080G>T, XM_006716827.3:c.5080G>C, XM_006716827.3:c.5080G>A, XM_006716827.2:c.5080G>T, XM_006716827.2:c.5080G>C, XM_006716827.2:c.5080G>A, XM_006716827.1:c.5080G>T, XM_006716827.1:c.5080G>C, XM_006716827.1:c.5080G>A, XM_006716823.4:c.5140G>T, XM_006716823.4:c.5140G>C, XM_006716823.4:c.5140G>A, XM_006716823.3:c.5140G>T, XM_006716823.3:c.5140G>C, XM_006716823.3:c.5140G>A, XM_006716823.2:c.5140G>T, XM_006716823.2:c.5140G>C, XM_006716823.2:c.5140G>A, XM_006716823.1:c.5140G>T, XM_006716823.1:c.5140G>C, XM_006716823.1:c.5140G>A, XM_017014958.3:c.5197G>T, XM_017014958.3:c.5197G>C, XM_017014958.3:c.5197G>A, XM_017014958.2:c.5197G>T, XM_017014958.2:c.5197G>C, XM_017014958.2:c.5197G>A, XM_017014958.1:c.5197G>T, XM_017014958.1:c.5197G>C, XM_017014958.1:c.5197G>A, XM_017014965.3:c.5194G>T, XM_017014965.3:c.5194G>C, XM_017014965.3:c.5194G>A, XM_017014965.2:c.5194G>T, XM_017014965.2:c.5194G>C, XM_017014965.2:c.5194G>A, XM_017014965.1:c.5194G>T, XM_017014965.1:c.5194G>C, XM_017014965.1:c.5194G>A, XM_017014964.3:c.5194G>T, XM_017014964.3:c.5194G>C, XM_017014964.3:c.5194G>A, XM_017014964.2:c.5194G>T, XM_017014964.2:c.5194G>C, XM_017014964.2:c.5194G>A, XM_017014964.1:c.5194G>T, XM_017014964.1:c.5194G>C, XM_017014964.1:c.5194G>A, XM_017014963.3:c.5194G>T, XM_017014963.3:c.5194G>C, XM_017014963.3:c.5194G>A, XM_017014963.2:c.5194G>T, XM_017014963.2:c.5194G>C, XM_017014963.2:c.5194G>A, XM_017014963.1:c.5194G>T, XM_017014963.1:c.5194G>C, XM_017014963.1:c.5194G>A, XM_017014966.3:c.5188G>T, XM_017014966.3:c.5188G>C, XM_017014966.3:c.5188G>A, XM_017014966.2:c.5188G>T, XM_017014966.2:c.5188G>C, XM_017014966.2:c.5188G>A, XM_017014966.1:c.5188G>T, XM_017014966.1:c.5188G>C, XM_017014966.1:c.5188G>A, XM_017014967.3:c.5185G>T, XM_017014967.3:c.5185G>C, XM_017014967.3:c.5185G>A, XM_017014967.2:c.5185G>T, XM_017014967.2:c.5185G>C, XM_017014967.2:c.5185G>A, XM_017014967.1:c.5185G>T, XM_017014967.1:c.5185G>C, XM_017014967.1:c.5185G>A, XM_017014968.3:c.5182G>T, XM_017014968.3:c.5182G>C, XM_017014968.3:c.5182G>A, XM_017014968.2:c.5182G>T, XM_017014968.2:c.5182G>C, XM_017014968.2:c.5182G>A, XM_017014968.1:c.5182G>T, XM_017014968.1:c.5182G>C, XM_017014968.1:c.5182G>A, XM_017014970.3:c.5179G>T, XM_017014970.3:c.5179G>C, XM_017014970.3:c.5179G>A, XM_017014970.2:c.5179G>T, XM_017014970.2:c.5179G>C, XM_017014970.2:c.5179G>A, XM_017014970.1:c.5179G>T, XM_017014970.1:c.5179G>C, XM_017014970.1:c.5179G>A, XM_017014969.3:c.5179G>T, XM_017014969.3:c.5179G>C, XM_017014969.3:c.5179G>A, XM_017014969.2:c.5179G>T, XM_017014969.2:c.5179G>C, XM_017014969.2:c.5179G>A, XM_017014969.1:c.5179G>T, XM_017014969.1:c.5179G>C, XM_017014969.1:c.5179G>A, XM_017014972.3:c.5170G>T, XM_017014972.3:c.5170G>C, XM_017014972.3:c.5170G>A, XM_017014972.2:c.5170G>T, XM_017014972.2:c.5170G>C, XM_017014972.2:c.5170G>A, XM_017014972.1:c.5170G>T, XM_017014972.1:c.5170G>C, XM_017014972.1:c.5170G>A, XM_017014971.3:c.5170G>T, XM_017014971.3:c.5170G>C, XM_017014971.3:c.5170G>A, XM_017014971.2:c.5170G>T, XM_017014971.2:c.5170G>C, XM_017014971.2:c.5170G>A, XM_017014971.1:c.5170G>T, XM_017014971.1:c.5170G>C, XM_017014971.1:c.5170G>A, XM_017014974.3:c.5167G>T, XM_017014974.3:c.5167G>C, XM_017014974.3:c.5167G>A, XM_017014974.2:c.5167G>T, XM_017014974.2:c.5167G>C, XM_017014974.2:c.5167G>A, XM_017014974.1:c.5167G>T, XM_017014974.1:c.5167G>C, XM_017014974.1:c.5167G>A, XM_017014977.3:c.5155G>T, XM_017014977.3:c.5155G>C, XM_017014977.3:c.5155G>A, XM_017014977.2:c.5155G>T, XM_017014977.2:c.5155G>C, XM_017014977.2:c.5155G>A, XM_017014977.1:c.5155G>T, XM_017014977.1:c.5155G>C, XM_017014977.1:c.5155G>A, XM_017014976.3:c.5155G>T, XM_017014976.3:c.5155G>C, XM_017014976.3:c.5155G>A, XM_017014976.2:c.5155G>T, XM_017014976.2:c.5155G>C, XM_017014976.2:c.5155G>A, XM_017014976.1:c.5155G>T, XM_017014976.1:c.5155G>C, XM_017014976.1:c.5155G>A, XM_017014978.3:c.5152G>T, XM_017014978.3:c.5152G>C, XM_017014978.3:c.5152G>A, XM_017014978.2:c.5152G>T, XM_017014978.2:c.5152G>C, XM_017014978.2:c.5152G>A, XM_017014978.1:c.5152G>T, XM_017014978.1:c.5152G>C, XM_017014978.1:c.5152G>A, XM_017014979.3:c.5149G>T, XM_017014979.3:c.5149G>C, XM_017014979.3:c.5149G>A, XM_017014979.2:c.5149G>T, XM_017014979.2:c.5149G>C, XM_017014979.2:c.5149G>A, XM_017014979.1:c.5149G>T, XM_017014979.1:c.5149G>C, XM_017014979.1:c.5149G>A, XM_017014961.3:c.5197G>T, XM_017014961.3:c.5197G>C, XM_017014961.3:c.5197G>A, XM_017014961.2:c.5197G>T, XM_017014961.2:c.5197G>C, XM_017014961.2:c.5197G>A, XM_017014961.1:c.5197G>T, XM_017014961.1:c.5197G>C, XM_017014961.1:c.5197G>A, XM_017014980.3:c.5110G>T, XM_017014980.3:c.5110G>C, XM_017014980.3:c.5110G>A, XM_017014980.2:c.5110G>T, XM_017014980.2:c.5110G>C, XM_017014980.2:c.5110G>A, XM_017014980.1:c.5110G>T, XM_017014980.1:c.5110G>C, XM_017014980.1:c.5110G>A, XM_017014982.3:c.3964G>T, XM_017014982.3:c.3964G>C, XM_017014982.3:c.3964G>A, XM_017014982.2:c.3964G>T, XM_017014982.2:c.3964G>C, XM_017014982.2:c.3964G>A, XM_017014982.1:c.3964G>T, XM_017014982.1:c.3964G>C, XM_017014982.1:c.3964G>A, XM_017014983.3:c.3961G>T, XM_017014983.3:c.3961G>C, XM_017014983.3:c.3961G>A, XM_017014983.2:c.3961G>T, XM_017014983.2:c.3961G>C, XM_017014983.2:c.3961G>A, XM_017014983.1:c.3961G>T, XM_017014983.1:c.3961G>C, XM_017014983.1:c.3961G>A, XM_024447625.2:c.5176G>T, XM_024447625.2:c.5176G>C, XM_024447625.2:c.5176G>A, XM_024447625.1:c.5176G>T, XM_024447625.1:c.5176G>C, XM_024447625.1:c.5176G>A, XM_047423641.1:c.5197G>T, XM_047423641.1:c.5197G>C, XM_047423641.1:c.5197G>A, XM_047423642.1:c.5179G>T, XM_047423642.1:c.5179G>C, XM_047423642.1:c.5179G>A, XM_047423644.1:c.5152G>T, XM_047423644.1:c.5152G>C, XM_047423644.1:c.5152G>A, XM_047423645.1:c.5140G>T, XM_047423645.1:c.5140G>C, XM_047423645.1:c.5140G>A, XM_047423647.1:c.5134G>T, XM_047423647.1:c.5134G>C, XM_047423647.1:c.5134G>A, XM_047423649.1:c.5122G>T, XM_047423649.1:c.5122G>C, XM_047423649.1:c.5122G>A, XM_047423651.1:c.5113G>T, XM_047423651.1:c.5113G>C, XM_047423651.1:c.5113G>A, XM_047423650.1:c.5113G>T, XM_047423650.1:c.5113G>C, XM_047423650.1:c.5113G>A, XM_047423652.1:c.5110G>T, XM_047423652.1:c.5110G>C, XM_047423652.1:c.5110G>A, XM_047423654.1:c.5107G>T, XM_047423654.1:c.5107G>C, XM_047423654.1:c.5107G>A, XM_047423653.1:c.5107G>T, XM_047423653.1:c.5107G>C, XM_047423653.1:c.5107G>A, XM_047423657.1:c.5095G>T, XM_047423657.1:c.5095G>C, XM_047423657.1:c.5095G>A, XM_047423643.1:c.5158G>T, XM_047423643.1:c.5158G>C, XM_047423643.1:c.5158G>A, XM_047423646.1:c.5137G>T, XM_047423646.1:c.5137G>C, XM_047423646.1:c.5137G>A, XM_047423648.1:c.5128G>T, XM_047423648.1:c.5128G>C, XM_047423648.1:c.5128G>A, XM_047423655.1:c.5101G>T, XM_047423655.1:c.5101G>C, XM_047423655.1:c.5101G>A, XM_047423656.1:c.5098G>T, XM_047423656.1:c.5098G>C, XM_047423656.1:c.5098G>A, XM_047423658.1:c.5074G>T, XM_047423658.1:c.5074G>C, XM_047423658.1:c.5074G>A, XM_047423659.1:c.5071G>T, XM_047423659.1:c.5071G>C, XM_047423659.1:c.5071G>A, XM_047423660.1:c.5068G>T, XM_047423660.1:c.5068G>C, XM_047423660.1:c.5068G>A, NP_002830.1:p.Ala1713Ser, NP_002830.1:p.Ala1713Pro, NP_002830.1:p.Ala1713Thr, NP_569075.2:p.Ala1306Ser, NP_569075.2:p.Ala1306Pro, NP_569075.2:p.Ala1306Thr, NP_569076.2:p.Ala1307Ser, NP_569076.2:p.Ala1307Pro, NP_569076.2:p.Ala1307Thr, NP_569077.2:p.Ala1297Ser, NP_569077.2:p.Ala1297Pro, NP_569077.2:p.Ala1297Thr, NP_001164496.1:p.Ala1306Ser, NP_001164496.1:p.Ala1306Pro, NP_001164496.1:p.Ala1306Thr, NP_001035802.1:p.Ala1303Ser, NP_001035802.1:p.Ala1303Pro, NP_001035802.1:p.Ala1303Thr, NP_001364887.1:p.Ala1733Ser, NP_001364887.1:p.Ala1733Pro, NP_001364887.1:p.Ala1733Thr, NP_001364987.1:p.Ala1718Ser, NP_001364987.1:p.Ala1718Pro, NP_001364987.1:p.Ala1718Thr, NP_001364876.1:p.Ala1300Ser, NP_001364876.1:p.Ala1300Pro, NP_001364876.1:p.Ala1300Thr, NP_001364875.1:p.Ala1310Ser, NP_001364875.1:p.Ala1310Pro, NP_001364875.1:p.Ala1310Thr, XP_006716880.1:p.Ala1730Ser, XP_006716880.1:p.Ala1730Pro, XP_006716880.1:p.Ala1730Thr, XP_006716888.1:p.Ala1713Ser, XP_006716888.1:p.Ala1713Pro, XP_006716888.1:p.Ala1713Thr, XP_006716890.1:p.Ala1694Ser, XP_006716890.1:p.Ala1694Pro, XP_006716890.1:p.Ala1694Thr, XP_006716886.1:p.Ala1714Ser, XP_006716886.1:p.Ala1714Pro, XP_006716886.1:p.Ala1714Thr, XP_016870447.1:p.Ala1733Ser, XP_016870447.1:p.Ala1733Pro, XP_016870447.1:p.Ala1733Thr, XP_016870454.1:p.Ala1732Ser, XP_016870454.1:p.Ala1732Pro, XP_016870454.1:p.Ala1732Thr, XP_016870453.1:p.Ala1732Ser, XP_016870453.1:p.Ala1732Pro, XP_016870453.1:p.Ala1732Thr, XP_016870452.1:p.Ala1732Ser, XP_016870452.1:p.Ala1732Pro, XP_016870452.1:p.Ala1732Thr, XP_016870455.1:p.Ala1730Ser, XP_016870455.1:p.Ala1730Pro, XP_016870455.1:p.Ala1730Thr, XP_016870456.1:p.Ala1729Ser, XP_016870456.1:p.Ala1729Pro, XP_016870456.1:p.Ala1729Thr, XP_016870457.1:p.Ala1728Ser, XP_016870457.1:p.Ala1728Pro, XP_016870457.1:p.Ala1728Thr, XP_016870459.1:p.Ala1727Ser, XP_016870459.1:p.Ala1727Pro, XP_016870459.1:p.Ala1727Thr, XP_016870458.1:p.Ala1727Ser, XP_016870458.1:p.Ala1727Pro, XP_016870458.1:p.Ala1727Thr, XP_016870461.1:p.Ala1724Ser, XP_016870461.1:p.Ala1724Pro, XP_016870461.1:p.Ala1724Thr, XP_016870460.1:p.Ala1724Ser, XP_016870460.1:p.Ala1724Pro, XP_016870460.1:p.Ala1724Thr, XP_016870463.1:p.Ala1723Ser, XP_016870463.1:p.Ala1723Pro, XP_016870463.1:p.Ala1723Thr, XP_016870466.1:p.Ala1719Ser, XP_016870466.1:p.Ala1719Pro, XP_016870466.1:p.Ala1719Thr, XP_016870465.1:p.Ala1719Ser, XP_016870465.1:p.Ala1719Pro, XP_016870465.1:p.Ala1719Thr, XP_016870467.1:p.Ala1718Ser, XP_016870467.1:p.Ala1718Pro, XP_016870467.1:p.Ala1718Thr, XP_016870468.1:p.Ala1717Ser, XP_016870468.1:p.Ala1717Pro, XP_016870468.1:p.Ala1717Thr, XP_016870450.1:p.Ala1733Ser, XP_016870450.1:p.Ala1733Pro, XP_016870450.1:p.Ala1733Thr, XP_016870469.1:p.Ala1704Ser, XP_016870469.1:p.Ala1704Pro, XP_016870469.1:p.Ala1704Thr, XP_016870471.1:p.Ala1322Ser, XP_016870471.1:p.Ala1322Pro, XP_016870471.1:p.Ala1322Thr, XP_016870472.1:p.Ala1321Ser, XP_016870472.1:p.Ala1321Pro, XP_016870472.1:p.Ala1321Thr, XP_024303393.1:p.Ala1726Ser, XP_024303393.1:p.Ala1726Pro, XP_024303393.1:p.Ala1726Thr, XP_047279597.1:p.Ala1733Ser, XP_047279597.1:p.Ala1733Pro, XP_047279597.1:p.Ala1733Thr, XP_047279598.1:p.Ala1727Ser, XP_047279598.1:p.Ala1727Pro, XP_047279598.1:p.Ala1727Thr, XP_047279600.1:p.Ala1718Ser, XP_047279600.1:p.Ala1718Pro, XP_047279600.1:p.Ala1718Thr, XP_047279601.1:p.Ala1714Ser, XP_047279601.1:p.Ala1714Pro, XP_047279601.1:p.Ala1714Thr, XP_047279603.1:p.Ala1712Ser, XP_047279603.1:p.Ala1712Pro, XP_047279603.1:p.Ala1712Thr, XP_047279605.1:p.Ala1708Ser, XP_047279605.1:p.Ala1708Pro, XP_047279605.1:p.Ala1708Thr, XP_047279607.1:p.Ala1705Ser, XP_047279607.1:p.Ala1705Pro, XP_047279607.1:p.Ala1705Thr, XP_047279606.1:p.Ala1705Ser, XP_047279606.1:p.Ala1705Pro, XP_047279606.1:p.Ala1705Thr, XP_047279608.1:p.Ala1704Ser, XP_047279608.1:p.Ala1704Pro, XP_047279608.1:p.Ala1704Thr, XP_047279610.1:p.Ala1703Ser, XP_047279610.1:p.Ala1703Pro, XP_047279610.1:p.Ala1703Thr, XP_047279609.1:p.Ala1703Ser, XP_047279609.1:p.Ala1703Pro, XP_047279609.1:p.Ala1703Thr, XP_047279613.1:p.Ala1699Ser, XP_047279613.1:p.Ala1699Pro, XP_047279613.1:p.Ala1699Thr, XP_047279599.1:p.Ala1720Ser, XP_047279599.1:p.Ala1720Pro, XP_047279599.1:p.Ala1720Thr, XP_047279602.1:p.Ala1713Ser, XP_047279602.1:p.Ala1713Pro, XP_047279602.1:p.Ala1713Thr, XP_047279604.1:p.Ala1710Ser, XP_047279604.1:p.Ala1710Pro, XP_047279604.1:p.Ala1710Thr, XP_047279611.1:p.Ala1701Ser, XP_047279611.1:p.Ala1701Pro, XP_047279611.1:p.Ala1701Thr, XP_047279612.1:p.Ala1700Ser, XP_047279612.1:p.Ala1700Pro, XP_047279612.1:p.Ala1700Thr, XP_047279614.1:p.Ala1692Ser, XP_047279614.1:p.Ala1692Pro, XP_047279614.1:p.Ala1692Thr, XP_047279615.1:p.Ala1691Ser, XP_047279615.1:p.Ala1691Pro, XP_047279615.1:p.Ala1691Thr, XP_047279616.1:p.Ala1690Ser, XP_047279616.1:p.Ala1690Pro, XP_047279616.1:p.Ala1690Thr

                              15.

                              rs1485000368 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A,C [Show Flanks]
                                Chromosome:
                                9:8733837 (GRCh38)
                                9:8733837 (GRCh37)
                                Canonical SPDI:
                                NC_000009.12:8733836:G:A,NC_000009.12:8733836:G:C
                                Gene:
                                PTPRD (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0.000102/2 (ALFA)
                                A=0.000013/2 (GnomAD_exomes)
                                HGVS:
                                NC_000009.12:g.8733837G>A, NC_000009.12:g.8733837G>C, NC_000009.11:g.8733837G>A, NC_000009.11:g.8733837G>C, NG_033963.1:g.1883887C>T, NG_033963.1:g.1883887C>G, NM_002839.4:c.7C>T, NM_002839.4:c.7C>G, NM_002839.3:c.7C>T, NM_002839.3:c.7C>G, NM_130391.4:c.7C>T, NM_130391.4:c.7C>G, NM_130391.3:c.7C>T, NM_130391.3:c.7C>G, NM_130392.3:c.7C>T, NM_130392.3:c.7C>G, NM_130393.3:c.7C>T, NM_130393.3:c.7C>G, NM_001171025.2:c.7C>T, NM_001171025.2:c.7C>G, NM_001171025.1:c.7C>T, NM_001171025.1:c.7C>G, NM_001040712.2:c.7C>T, NM_001040712.2:c.7C>G, NM_001377958.1:c.7C>T, NM_001377958.1:c.7C>G, NM_001378058.1:c.7C>T, NM_001378058.1:c.7C>G, NM_001377947.1:c.7C>T, NM_001377947.1:c.7C>G, NM_001377946.1:c.7C>T, NM_001377946.1:c.7C>G, XM_006716817.5:c.7C>T, XM_006716817.5:c.7C>G, XM_006716817.4:c.7C>T, XM_006716817.4:c.7C>G, XM_006716817.3:c.7C>T, XM_006716817.3:c.7C>G, XM_006716817.2:c.7C>T, XM_006716817.2:c.7C>G, XM_006716817.1:c.7C>T, XM_006716817.1:c.7C>G, XM_006716825.5:c.7C>T, XM_006716825.5:c.7C>G, XM_006716825.4:c.7C>T, XM_006716825.4:c.7C>G, XM_006716825.3:c.7C>T, XM_006716825.3:c.7C>G, XM_006716825.2:c.7C>T, XM_006716825.2:c.7C>G, XM_006716825.1:c.7C>T, XM_006716825.1:c.7C>G, XM_006716827.5:c.7C>T, XM_006716827.5:c.7C>G, XM_006716827.4:c.7C>T, XM_006716827.4:c.7C>G, XM_006716827.3:c.7C>T, XM_006716827.3:c.7C>G, XM_006716827.2:c.7C>T, XM_006716827.2:c.7C>G, XM_006716827.1:c.7C>T, XM_006716827.1:c.7C>G, XM_006716823.4:c.7C>T, XM_006716823.4:c.7C>G, XM_006716823.3:c.7C>T, XM_006716823.3:c.7C>G, XM_006716823.2:c.7C>T, XM_006716823.2:c.7C>G, XM_006716823.1:c.7C>T, XM_006716823.1:c.7C>G, XM_017014958.3:c.7C>T, XM_017014958.3:c.7C>G, XM_017014958.2:c.7C>T, XM_017014958.2:c.7C>G, XM_017014958.1:c.7C>T, XM_017014958.1:c.7C>G, XM_017014965.3:c.7C>T, XM_017014965.3:c.7C>G, XM_017014965.2:c.7C>T, XM_017014965.2:c.7C>G, XM_017014965.1:c.7C>T, XM_017014965.1:c.7C>G, XM_017014964.3:c.7C>T, XM_017014964.3:c.7C>G, XM_017014964.2:c.7C>T, XM_017014964.2:c.7C>G, XM_017014964.1:c.7C>T, XM_017014964.1:c.7C>G, XM_017014963.3:c.7C>T, XM_017014963.3:c.7C>G, XM_017014963.2:c.7C>T, XM_017014963.2:c.7C>G, XM_017014963.1:c.7C>T, XM_017014963.1:c.7C>G, XM_017014966.3:c.7C>T, XM_017014966.3:c.7C>G, XM_017014966.2:c.7C>T, XM_017014966.2:c.7C>G, XM_017014966.1:c.7C>T, XM_017014966.1:c.7C>G, XM_017014967.3:c.7C>T, XM_017014967.3:c.7C>G, XM_017014967.2:c.7C>T, XM_017014967.2:c.7C>G, XM_017014967.1:c.7C>T, XM_017014967.1:c.7C>G, XM_017014968.3:c.7C>T, XM_017014968.3:c.7C>G, XM_017014968.2:c.7C>T, XM_017014968.2:c.7C>G, XM_017014968.1:c.7C>T, XM_017014968.1:c.7C>G, XM_017014970.3:c.7C>T, XM_017014970.3:c.7C>G, XM_017014970.2:c.7C>T, XM_017014970.2:c.7C>G, XM_017014970.1:c.7C>T, XM_017014970.1:c.7C>G, XM_017014969.3:c.7C>T, XM_017014969.3:c.7C>G, XM_017014969.2:c.7C>T, XM_017014969.2:c.7C>G, XM_017014969.1:c.7C>T, XM_017014969.1:c.7C>G, XM_017014972.3:c.7C>T, XM_017014972.3:c.7C>G, XM_017014972.2:c.7C>T, XM_017014972.2:c.7C>G, XM_017014972.1:c.7C>T, XM_017014972.1:c.7C>G, XM_017014971.3:c.7C>T, XM_017014971.3:c.7C>G, XM_017014971.2:c.7C>T, XM_017014971.2:c.7C>G, XM_017014971.1:c.7C>T, XM_017014971.1:c.7C>G, XM_017014974.3:c.7C>T, XM_017014974.3:c.7C>G, XM_017014974.2:c.7C>T, XM_017014974.2:c.7C>G, XM_017014974.1:c.7C>T, XM_017014974.1:c.7C>G, XM_017014977.3:c.7C>T, XM_017014977.3:c.7C>G, XM_017014977.2:c.7C>T, XM_017014977.2:c.7C>G, XM_017014977.1:c.7C>T, XM_017014977.1:c.7C>G, XM_017014976.3:c.7C>T, XM_017014976.3:c.7C>G, XM_017014976.2:c.7C>T, XM_017014976.2:c.7C>G, XM_017014976.1:c.7C>T, XM_017014976.1:c.7C>G, XM_017014978.3:c.7C>T, XM_017014978.3:c.7C>G, XM_017014978.2:c.7C>T, XM_017014978.2:c.7C>G, XM_017014978.1:c.7C>T, XM_017014978.1:c.7C>G, XM_017014979.3:c.7C>T, XM_017014979.3:c.7C>G, XM_017014979.2:c.7C>T, XM_017014979.2:c.7C>G, XM_017014979.1:c.7C>T, XM_017014979.1:c.7C>G, XM_017014961.3:c.7C>T, XM_017014961.3:c.7C>G, XM_017014961.2:c.7C>T, XM_017014961.2:c.7C>G, XM_017014961.1:c.7C>T, XM_017014961.1:c.7C>G, XM_017014980.3:c.7C>T, XM_017014980.3:c.7C>G, XM_017014980.2:c.7C>T, XM_017014980.2:c.7C>G, XM_017014980.1:c.7C>T, XM_017014980.1:c.7C>G, XM_017014982.3:c.7C>T, XM_017014982.3:c.7C>G, XM_017014982.2:c.7C>T, XM_017014982.2:c.7C>G, XM_017014982.1:c.7C>T, XM_017014982.1:c.7C>G, XM_017014983.3:c.7C>T, XM_017014983.3:c.7C>G, XM_017014983.2:c.7C>T, XM_017014983.2:c.7C>G, XM_017014983.1:c.7C>T, XM_017014983.1:c.7C>G, XM_024447625.2:c.7C>T, XM_024447625.2:c.7C>G, XM_024447625.1:c.7C>T, XM_024447625.1:c.7C>G, XM_047423641.1:c.7C>T, XM_047423641.1:c.7C>G, XM_047423642.1:c.7C>T, XM_047423642.1:c.7C>G, XM_047423644.1:c.7C>T, XM_047423644.1:c.7C>G, XM_047423645.1:c.7C>T, XM_047423645.1:c.7C>G, XM_047423647.1:c.7C>T, XM_047423647.1:c.7C>G, XM_047423649.1:c.7C>T, XM_047423649.1:c.7C>G, XM_047423651.1:c.7C>T, XM_047423651.1:c.7C>G, XM_047423650.1:c.7C>T, XM_047423650.1:c.7C>G, XM_047423652.1:c.7C>T, XM_047423652.1:c.7C>G, XM_047423654.1:c.7C>T, XM_047423654.1:c.7C>G, XM_047423653.1:c.7C>T, XM_047423653.1:c.7C>G, XM_047423657.1:c.7C>T, XM_047423657.1:c.7C>G, XM_047423643.1:c.7C>T, XM_047423643.1:c.7C>G, XM_047423646.1:c.7C>T, XM_047423646.1:c.7C>G, XM_047423648.1:c.7C>T, XM_047423648.1:c.7C>G, XM_047423655.1:c.7C>T, XM_047423655.1:c.7C>G, XM_047423656.1:c.7C>T, XM_047423656.1:c.7C>G, XM_047423658.1:c.7C>T, XM_047423658.1:c.7C>G, XM_047423659.1:c.7C>T, XM_047423659.1:c.7C>G, XM_047423660.1:c.7C>T, XM_047423660.1:c.7C>G, NP_002830.1:p.His3Tyr, NP_002830.1:p.His3Asp, NP_569075.2:p.His3Tyr, NP_569075.2:p.His3Asp, NP_569076.2:p.His3Tyr, NP_569076.2:p.His3Asp, NP_569077.2:p.His3Tyr, NP_569077.2:p.His3Asp, NP_001164496.1:p.His3Tyr, NP_001164496.1:p.His3Asp, NP_001035802.1:p.His3Tyr, NP_001035802.1:p.His3Asp, NP_001364887.1:p.His3Tyr, NP_001364887.1:p.His3Asp, NP_001364987.1:p.His3Tyr, NP_001364987.1:p.His3Asp, NP_001364876.1:p.His3Tyr, NP_001364876.1:p.His3Asp, NP_001364875.1:p.His3Tyr, NP_001364875.1:p.His3Asp, XP_006716880.1:p.His3Tyr, XP_006716880.1:p.His3Asp, XP_006716888.1:p.His3Tyr, XP_006716888.1:p.His3Asp, XP_006716890.1:p.His3Tyr, XP_006716890.1:p.His3Asp, XP_006716886.1:p.His3Tyr, XP_006716886.1:p.His3Asp, XP_016870447.1:p.His3Tyr, XP_016870447.1:p.His3Asp, XP_016870454.1:p.His3Tyr, XP_016870454.1:p.His3Asp, XP_016870453.1:p.His3Tyr, XP_016870453.1:p.His3Asp, XP_016870452.1:p.His3Tyr, XP_016870452.1:p.His3Asp, XP_016870455.1:p.His3Tyr, XP_016870455.1:p.His3Asp, XP_016870456.1:p.His3Tyr, XP_016870456.1:p.His3Asp, XP_016870457.1:p.His3Tyr, XP_016870457.1:p.His3Asp, XP_016870459.1:p.His3Tyr, XP_016870459.1:p.His3Asp, XP_016870458.1:p.His3Tyr, XP_016870458.1:p.His3Asp, XP_016870461.1:p.His3Tyr, XP_016870461.1:p.His3Asp, XP_016870460.1:p.His3Tyr, XP_016870460.1:p.His3Asp, XP_016870463.1:p.His3Tyr, XP_016870463.1:p.His3Asp, XP_016870466.1:p.His3Tyr, XP_016870466.1:p.His3Asp, XP_016870465.1:p.His3Tyr, XP_016870465.1:p.His3Asp, XP_016870467.1:p.His3Tyr, XP_016870467.1:p.His3Asp, XP_016870468.1:p.His3Tyr, XP_016870468.1:p.His3Asp, XP_016870450.1:p.His3Tyr, XP_016870450.1:p.His3Asp, XP_016870469.1:p.His3Tyr, XP_016870469.1:p.His3Asp, XP_016870471.1:p.His3Tyr, XP_016870471.1:p.His3Asp, XP_016870472.1:p.His3Tyr, XP_016870472.1:p.His3Asp, XP_024303393.1:p.His3Tyr, XP_024303393.1:p.His3Asp, XP_047279597.1:p.His3Tyr, XP_047279597.1:p.His3Asp, XP_047279598.1:p.His3Tyr, XP_047279598.1:p.His3Asp, XP_047279600.1:p.His3Tyr, XP_047279600.1:p.His3Asp, XP_047279601.1:p.His3Tyr, XP_047279601.1:p.His3Asp, XP_047279603.1:p.His3Tyr, XP_047279603.1:p.His3Asp, XP_047279605.1:p.His3Tyr, XP_047279605.1:p.His3Asp, XP_047279607.1:p.His3Tyr, XP_047279607.1:p.His3Asp, XP_047279606.1:p.His3Tyr, XP_047279606.1:p.His3Asp, XP_047279608.1:p.His3Tyr, XP_047279608.1:p.His3Asp, XP_047279610.1:p.His3Tyr, XP_047279610.1:p.His3Asp, XP_047279609.1:p.His3Tyr, XP_047279609.1:p.His3Asp, XP_047279613.1:p.His3Tyr, XP_047279613.1:p.His3Asp, XP_047279599.1:p.His3Tyr, XP_047279599.1:p.His3Asp, XP_047279602.1:p.His3Tyr, XP_047279602.1:p.His3Asp, XP_047279604.1:p.His3Tyr, XP_047279604.1:p.His3Asp, XP_047279611.1:p.His3Tyr, XP_047279611.1:p.His3Asp, XP_047279612.1:p.His3Tyr, XP_047279612.1:p.His3Asp, XP_047279614.1:p.His3Tyr, XP_047279614.1:p.His3Asp, XP_047279615.1:p.His3Tyr, XP_047279615.1:p.His3Asp, XP_047279616.1:p.His3Tyr, XP_047279616.1:p.His3Asp

                                16.

                                rs1484916335 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  9:8486010 (GRCh38)
                                  9:8486010 (GRCh37)
                                  Canonical SPDI:
                                  NC_000009.12:8486009:T:C
                                  Gene:
                                  PTPRD (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  C=0./0 (ALFA)
                                  C=0.000007/1 (GnomAD)
                                  C=0.000012/3 (GnomAD_exomes)
                                  C=0.000015/4 (TOPMED)
                                  HGVS:
                                  NC_000009.12:g.8486010T>C, NC_000009.11:g.8486010T>C, NG_033963.1:g.2131714A>G, NM_002839.4:c.2807A>G, NM_002839.3:c.2807A>G, NM_001377958.1:c.2807A>G, NM_001378058.1:c.2807A>G, XM_006716817.5:c.2807A>G, XM_006716817.4:c.2807A>G, XM_006716817.3:c.2807A>G, XM_006716817.2:c.2807A>G, XM_006716817.1:c.2807A>G, XM_006716825.5:c.2807A>G, XM_006716825.4:c.2807A>G, XM_006716825.3:c.2807A>G, XM_006716825.2:c.2807A>G, XM_006716825.1:c.2807A>G, XM_006716827.5:c.2741A>G, XM_006716827.4:c.2741A>G, XM_006716827.3:c.2741A>G, XM_006716827.2:c.2741A>G, XM_006716827.1:c.2741A>G, XM_006716823.4:c.2807A>G, XM_006716823.3:c.2807A>G, XM_006716823.2:c.2807A>G, XM_006716823.1:c.2807A>G, XM_017014958.3:c.2807A>G, XM_017014958.2:c.2807A>G, XM_017014958.1:c.2807A>G, XM_017014965.3:c.2807A>G, XM_017014965.2:c.2807A>G, XM_017014965.1:c.2807A>G, XM_017014964.3:c.2807A>G, XM_017014964.2:c.2807A>G, XM_017014964.1:c.2807A>G, XM_017014963.3:c.2807A>G, XM_017014963.2:c.2807A>G, XM_017014963.1:c.2807A>G, XM_017014966.3:c.2798A>G, XM_017014966.2:c.2798A>G, XM_017014966.1:c.2798A>G, XM_017014967.3:c.2795A>G, XM_017014967.2:c.2795A>G, XM_017014967.1:c.2795A>G, XM_017014968.3:c.2807A>G, XM_017014968.2:c.2807A>G, XM_017014968.1:c.2807A>G, XM_017014970.3:c.2807A>G, XM_017014970.2:c.2807A>G, XM_017014970.1:c.2807A>G, XM_017014969.3:c.2789A>G, XM_017014969.2:c.2789A>G, XM_017014969.1:c.2789A>G, XM_017014972.3:c.2780A>G, XM_017014972.2:c.2780A>G, XM_017014972.1:c.2780A>G, XM_017014971.3:c.2780A>G, XM_017014971.2:c.2780A>G, XM_017014971.1:c.2780A>G, XM_017014974.3:c.2780A>G, XM_017014974.2:c.2780A>G, XM_017014974.1:c.2780A>G, XM_017014977.3:c.2780A>G, XM_017014977.2:c.2780A>G, XM_017014977.1:c.2780A>G, XM_017014976.3:c.2807A>G, XM_017014976.2:c.2807A>G, XM_017014976.1:c.2807A>G, XM_017014978.3:c.2807A>G, XM_017014978.2:c.2807A>G, XM_017014978.1:c.2807A>G, XM_017014979.3:c.2807A>G, XM_017014979.2:c.2807A>G, XM_017014979.1:c.2807A>G, XM_017014961.3:c.2807A>G, XM_017014961.2:c.2807A>G, XM_017014961.1:c.2807A>G, XM_017014980.3:c.2780A>G, XM_017014980.2:c.2780A>G, XM_017014980.1:c.2780A>G, XM_024447625.2:c.2786A>G, XM_024447625.1:c.2786A>G, XM_047423641.1:c.2807A>G, XM_047423642.1:c.2807A>G, XM_047423644.1:c.2780A>G, XM_047423645.1:c.2768A>G, XM_047423647.1:c.2807A>G, XM_047423649.1:c.2741A>G, XM_047423651.1:c.2741A>G, XM_047423650.1:c.2780A>G, XM_047423652.1:c.2780A>G, XM_047423654.1:c.2780A>G, XM_047423653.1:c.2768A>G, XM_047423657.1:c.2768A>G, XM_047423643.1:c.2768A>G, XM_047423646.1:c.2768A>G, XM_047423648.1:c.2741A>G, XM_047423655.1:c.2768A>G, XM_047423656.1:c.2768A>G, XM_047423658.1:c.2741A>G, XM_047423659.1:c.2741A>G, XM_047423660.1:c.2741A>G, NP_002830.1:p.Gln936Arg, NP_001364887.1:p.Gln936Arg, NP_001364987.1:p.Gln936Arg, XP_006716880.1:p.Gln936Arg, XP_006716888.1:p.Gln936Arg, XP_006716890.1:p.Gln914Arg, XP_006716886.1:p.Gln936Arg, XP_016870447.1:p.Gln936Arg, XP_016870454.1:p.Gln936Arg, XP_016870453.1:p.Gln936Arg, XP_016870452.1:p.Gln936Arg, XP_016870455.1:p.Gln933Arg, XP_016870456.1:p.Gln932Arg, XP_016870457.1:p.Gln936Arg, XP_016870459.1:p.Gln936Arg, XP_016870458.1:p.Gln930Arg, XP_016870461.1:p.Gln927Arg, XP_016870460.1:p.Gln927Arg, XP_016870463.1:p.Gln927Arg, XP_016870466.1:p.Gln927Arg, XP_016870465.1:p.Gln936Arg, XP_016870467.1:p.Gln936Arg, XP_016870468.1:p.Gln936Arg, XP_016870450.1:p.Gln936Arg, XP_016870469.1:p.Gln927Arg, XP_024303393.1:p.Gln929Arg, XP_047279597.1:p.Gln936Arg, XP_047279598.1:p.Gln936Arg, XP_047279600.1:p.Gln927Arg, XP_047279601.1:p.Gln923Arg, XP_047279603.1:p.Gln936Arg, XP_047279605.1:p.Gln914Arg, XP_047279607.1:p.Gln914Arg, XP_047279606.1:p.Gln927Arg, XP_047279608.1:p.Gln927Arg, XP_047279610.1:p.Gln927Arg, XP_047279609.1:p.Gln923Arg, XP_047279613.1:p.Gln923Arg, XP_047279599.1:p.Gln923Arg, XP_047279602.1:p.Gln923Arg, XP_047279604.1:p.Gln914Arg, XP_047279611.1:p.Gln923Arg, XP_047279612.1:p.Gln923Arg, XP_047279614.1:p.Gln914Arg, XP_047279615.1:p.Gln914Arg, XP_047279616.1:p.Gln914Arg

                                  17.

                                  rs1483846960 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>A,C,G [Show Flanks]
                                    Chromosome:
                                    9:8319845 (GRCh38)
                                    9:8319845 (GRCh37)
                                    Canonical SPDI:
                                    NC_000009.12:8319844:T:A,NC_000009.12:8319844:T:C,NC_000009.12:8319844:T:G
                                    Gene:
                                    PTPRD (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (GnomAD_exomes)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000009.12:g.8319845T>A, NC_000009.12:g.8319845T>C, NC_000009.12:g.8319845T>G, NC_000009.11:g.8319845T>A, NC_000009.11:g.8319845T>C, NC_000009.11:g.8319845T>G, NG_033963.1:g.2297879A>T, NG_033963.1:g.2297879A>G, NG_033963.1:g.2297879A>C, NM_002839.4:c.5656A>T, NM_002839.4:c.5656A>G, NM_002839.4:c.5656A>C, NM_002839.3:c.5656A>T, NM_002839.3:c.5656A>G, NM_002839.3:c.5656A>C, NM_130391.4:c.4435A>T, NM_130391.4:c.4435A>G, NM_130391.4:c.4435A>C, NM_130391.3:c.4435A>T, NM_130391.3:c.4435A>G, NM_130391.3:c.4435A>C, NM_130392.3:c.4438A>T, NM_130392.3:c.4438A>G, NM_130392.3:c.4438A>C, NM_130393.3:c.4408A>T, NM_130393.3:c.4408A>G, NM_130393.3:c.4408A>C, NM_001171025.2:c.4435A>T, NM_001171025.2:c.4435A>G, NM_001171025.2:c.4435A>C, NM_001171025.1:c.4435A>T, NM_001171025.1:c.4435A>G, NM_001171025.1:c.4435A>C, NM_001040712.2:c.4426A>T, NM_001040712.2:c.4426A>G, NM_001040712.2:c.4426A>C, NM_001377958.1:c.5716A>T, NM_001377958.1:c.5716A>G, NM_001377958.1:c.5716A>C, NM_001378058.1:c.5671A>T, NM_001378058.1:c.5671A>G, NM_001378058.1:c.5671A>C, NM_001377947.1:c.4417A>T, NM_001377947.1:c.4417A>G, NM_001377947.1:c.4417A>C, NM_001377946.1:c.4447A>T, NM_001377946.1:c.4447A>G, NM_001377946.1:c.4447A>C, XM_006716817.5:c.5707A>T, XM_006716817.5:c.5707A>G, XM_006716817.5:c.5707A>C, XM_006716817.4:c.5707A>T, XM_006716817.4:c.5707A>G, XM_006716817.4:c.5707A>C, XM_006716817.3:c.5707A>T, XM_006716817.3:c.5707A>G, XM_006716817.3:c.5707A>C, XM_006716817.2:c.5707A>T, XM_006716817.2:c.5707A>G, XM_006716817.2:c.5707A>C, XM_006716817.1:c.5707A>T, XM_006716817.1:c.5707A>G, XM_006716817.1:c.5707A>C, XM_006716825.5:c.5656A>T, XM_006716825.5:c.5656A>G, XM_006716825.5:c.5656A>C, XM_006716825.4:c.5656A>T, XM_006716825.4:c.5656A>G, XM_006716825.4:c.5656A>C, XM_006716825.3:c.5656A>T, XM_006716825.3:c.5656A>G, XM_006716825.3:c.5656A>C, XM_006716825.2:c.5656A>T, XM_006716825.2:c.5656A>G, XM_006716825.2:c.5656A>C, XM_006716825.1:c.5656A>T, XM_006716825.1:c.5656A>G, XM_006716825.1:c.5656A>C, XM_006716827.5:c.5599A>T, XM_006716827.5:c.5599A>G, XM_006716827.5:c.5599A>C, XM_006716827.4:c.5599A>T, XM_006716827.4:c.5599A>G, XM_006716827.4:c.5599A>C, XM_006716827.3:c.5599A>T, XM_006716827.3:c.5599A>G, XM_006716827.3:c.5599A>C, XM_006716827.2:c.5599A>T, XM_006716827.2:c.5599A>G, XM_006716827.2:c.5599A>C, XM_006716827.1:c.5599A>T, XM_006716827.1:c.5599A>G, XM_006716827.1:c.5599A>C, XM_006716823.4:c.5659A>T, XM_006716823.4:c.5659A>G, XM_006716823.4:c.5659A>C, XM_006716823.3:c.5659A>T, XM_006716823.3:c.5659A>G, XM_006716823.3:c.5659A>C, XM_006716823.2:c.5659A>T, XM_006716823.2:c.5659A>G, XM_006716823.2:c.5659A>C, XM_006716823.1:c.5659A>T, XM_006716823.1:c.5659A>G, XM_006716823.1:c.5659A>C, XM_017014958.3:c.5716A>T, XM_017014958.3:c.5716A>G, XM_017014958.3:c.5716A>C, XM_017014958.2:c.5716A>T, XM_017014958.2:c.5716A>G, XM_017014958.2:c.5716A>C, XM_017014958.1:c.5716A>T, XM_017014958.1:c.5716A>G, XM_017014958.1:c.5716A>C, XM_017014965.3:c.5713A>T, XM_017014965.3:c.5713A>G, XM_017014965.3:c.5713A>C, XM_017014965.2:c.5713A>T, XM_017014965.2:c.5713A>G, XM_017014965.2:c.5713A>C, XM_017014965.1:c.5713A>T, XM_017014965.1:c.5713A>G, XM_017014965.1:c.5713A>C, XM_017014964.3:c.5713A>T, XM_017014964.3:c.5713A>G, XM_017014964.3:c.5713A>C, XM_017014964.2:c.5713A>T, XM_017014964.2:c.5713A>G, XM_017014964.2:c.5713A>C, XM_017014964.1:c.5713A>T, XM_017014964.1:c.5713A>G, XM_017014964.1:c.5713A>C, XM_017014963.3:c.5713A>T, XM_017014963.3:c.5713A>G, XM_017014963.3:c.5713A>C, XM_017014963.2:c.5713A>T, XM_017014963.2:c.5713A>G, XM_017014963.2:c.5713A>C, XM_017014963.1:c.5713A>T, XM_017014963.1:c.5713A>G, XM_017014963.1:c.5713A>C, XM_017014966.3:c.5707A>T, XM_017014966.3:c.5707A>G, XM_017014966.3:c.5707A>C, XM_017014966.2:c.5707A>T, XM_017014966.2:c.5707A>G, XM_017014966.2:c.5707A>C, XM_017014966.1:c.5707A>T, XM_017014966.1:c.5707A>G, XM_017014966.1:c.5707A>C, XM_017014967.3:c.5704A>T, XM_017014967.3:c.5704A>G, XM_017014967.3:c.5704A>C, XM_017014967.2:c.5704A>T, XM_017014967.2:c.5704A>G, XM_017014967.2:c.5704A>C, XM_017014967.1:c.5704A>T, XM_017014967.1:c.5704A>G, XM_017014967.1:c.5704A>C, XM_017014968.3:c.5701A>T, XM_017014968.3:c.5701A>G, XM_017014968.3:c.5701A>C, XM_017014968.2:c.5701A>T, XM_017014968.2:c.5701A>G, XM_017014968.2:c.5701A>C, XM_017014968.1:c.5701A>T, XM_017014968.1:c.5701A>G, XM_017014968.1:c.5701A>C, XM_017014970.3:c.5698A>T, XM_017014970.3:c.5698A>G, XM_017014970.3:c.5698A>C, XM_017014970.2:c.5698A>T, XM_017014970.2:c.5698A>G, XM_017014970.2:c.5698A>C, XM_017014970.1:c.5698A>T, XM_017014970.1:c.5698A>G, XM_017014970.1:c.5698A>C, XM_017014969.3:c.5698A>T, XM_017014969.3:c.5698A>G, XM_017014969.3:c.5698A>C, XM_017014969.2:c.5698A>T, XM_017014969.2:c.5698A>G, XM_017014969.2:c.5698A>C, XM_017014969.1:c.5698A>T, XM_017014969.1:c.5698A>G, XM_017014969.1:c.5698A>C, XM_017014972.3:c.5689A>T, XM_017014972.3:c.5689A>G, XM_017014972.3:c.5689A>C, XM_017014972.2:c.5689A>T, XM_017014972.2:c.5689A>G, XM_017014972.2:c.5689A>C, XM_017014972.1:c.5689A>T, XM_017014972.1:c.5689A>G, XM_017014972.1:c.5689A>C, XM_017014971.3:c.5689A>T, XM_017014971.3:c.5689A>G, XM_017014971.3:c.5689A>C, XM_017014971.2:c.5689A>T, XM_017014971.2:c.5689A>G, XM_017014971.2:c.5689A>C, XM_017014971.1:c.5689A>T, XM_017014971.1:c.5689A>G, XM_017014971.1:c.5689A>C, XM_017014974.3:c.5686A>T, XM_017014974.3:c.5686A>G, XM_017014974.3:c.5686A>C, XM_017014974.2:c.5686A>T, XM_017014974.2:c.5686A>G, XM_017014974.2:c.5686A>C, XM_017014974.1:c.5686A>T, XM_017014974.1:c.5686A>G, XM_017014974.1:c.5686A>C, XM_017014977.3:c.5674A>T, XM_017014977.3:c.5674A>G, XM_017014977.3:c.5674A>C, XM_017014977.2:c.5674A>T, XM_017014977.2:c.5674A>G, XM_017014977.2:c.5674A>C, XM_017014977.1:c.5674A>T, XM_017014977.1:c.5674A>G, XM_017014977.1:c.5674A>C, XM_017014976.3:c.5674A>T, XM_017014976.3:c.5674A>G, XM_017014976.3:c.5674A>C, XM_017014976.2:c.5674A>T, XM_017014976.2:c.5674A>G, XM_017014976.2:c.5674A>C, XM_017014976.1:c.5674A>T, XM_017014976.1:c.5674A>G, XM_017014976.1:c.5674A>C, XM_017014978.3:c.5671A>T, XM_017014978.3:c.5671A>G, XM_017014978.3:c.5671A>C, XM_017014978.2:c.5671A>T, XM_017014978.2:c.5671A>G, XM_017014978.2:c.5671A>C, XM_017014978.1:c.5671A>T, XM_017014978.1:c.5671A>G, XM_017014978.1:c.5671A>C, XM_017014979.3:c.5668A>T, XM_017014979.3:c.5668A>G, XM_017014979.3:c.5668A>C, XM_017014979.2:c.5668A>T, XM_017014979.2:c.5668A>G, XM_017014979.2:c.5668A>C, XM_017014979.1:c.5668A>T, XM_017014979.1:c.5668A>G, XM_017014979.1:c.5668A>C, XM_017014961.3:c.5716A>T, XM_017014961.3:c.5716A>G, XM_017014961.3:c.5716A>C, XM_017014961.2:c.5716A>T, XM_017014961.2:c.5716A>G, XM_017014961.2:c.5716A>C, XM_017014961.1:c.5716A>T, XM_017014961.1:c.5716A>G, XM_017014961.1:c.5716A>C, XM_017014980.3:c.5629A>T, XM_017014980.3:c.5629A>G, XM_017014980.3:c.5629A>C, XM_017014980.2:c.5629A>T, XM_017014980.2:c.5629A>G, XM_017014980.2:c.5629A>C, XM_017014980.1:c.5629A>T, XM_017014980.1:c.5629A>G, XM_017014980.1:c.5629A>C, XM_017014982.3:c.4483A>T, XM_017014982.3:c.4483A>G, XM_017014982.3:c.4483A>C, XM_017014982.2:c.4483A>T, XM_017014982.2:c.4483A>G, XM_017014982.2:c.4483A>C, XM_017014982.1:c.4483A>T, XM_017014982.1:c.4483A>G, XM_017014982.1:c.4483A>C, XM_017014983.3:c.4480A>T, XM_017014983.3:c.4480A>G, XM_017014983.3:c.4480A>C, XM_017014983.2:c.4480A>T, XM_017014983.2:c.4480A>G, XM_017014983.2:c.4480A>C, XM_017014983.1:c.4480A>T, XM_017014983.1:c.4480A>G, XM_017014983.1:c.4480A>C, XM_024447625.2:c.5695A>T, XM_024447625.2:c.5695A>G, XM_024447625.2:c.5695A>C, XM_024447625.1:c.5695A>T, XM_024447625.1:c.5695A>G, XM_024447625.1:c.5695A>C, XM_047423641.1:c.5716A>T, XM_047423641.1:c.5716A>G, XM_047423641.1:c.5716A>C, XM_047423642.1:c.5698A>T, XM_047423642.1:c.5698A>G, XM_047423642.1:c.5698A>C, XM_047423644.1:c.5671A>T, XM_047423644.1:c.5671A>G, XM_047423644.1:c.5671A>C, XM_047423645.1:c.5659A>T, XM_047423645.1:c.5659A>G, XM_047423645.1:c.5659A>C, XM_047423647.1:c.5653A>T, XM_047423647.1:c.5653A>G, XM_047423647.1:c.5653A>C, XM_047423649.1:c.5641A>T, XM_047423649.1:c.5641A>G, XM_047423649.1:c.5641A>C, XM_047423651.1:c.5632A>T, XM_047423651.1:c.5632A>G, XM_047423651.1:c.5632A>C, XM_047423650.1:c.5632A>T, XM_047423650.1:c.5632A>G, XM_047423650.1:c.5632A>C, XM_047423652.1:c.5629A>T, XM_047423652.1:c.5629A>G, XM_047423652.1:c.5629A>C, XM_047423654.1:c.5626A>T, XM_047423654.1:c.5626A>G, XM_047423654.1:c.5626A>C, XM_047423653.1:c.5626A>T, XM_047423653.1:c.5626A>G, XM_047423653.1:c.5626A>C, XM_047423657.1:c.5614A>T, XM_047423657.1:c.5614A>G, XM_047423657.1:c.5614A>C, XM_047423643.1:c.5677A>T, XM_047423643.1:c.5677A>G, XM_047423643.1:c.5677A>C, XM_047423646.1:c.5656A>T, XM_047423646.1:c.5656A>G, XM_047423646.1:c.5656A>C, XM_047423648.1:c.5647A>T, XM_047423648.1:c.5647A>G, XM_047423648.1:c.5647A>C, XM_047423655.1:c.5620A>T, XM_047423655.1:c.5620A>G, XM_047423655.1:c.5620A>C, XM_047423656.1:c.5617A>T, XM_047423656.1:c.5617A>G, XM_047423656.1:c.5617A>C, XM_047423658.1:c.5593A>T, XM_047423658.1:c.5593A>G, XM_047423658.1:c.5593A>C, XM_047423659.1:c.5590A>T, XM_047423659.1:c.5590A>G, XM_047423659.1:c.5590A>C, XM_047423660.1:c.5587A>T, XM_047423660.1:c.5587A>G, XM_047423660.1:c.5587A>C, NP_002830.1:p.Met1886Leu, NP_002830.1:p.Met1886Val, NP_002830.1:p.Met1886Leu, NP_569075.2:p.Met1479Leu, NP_569075.2:p.Met1479Val, NP_569075.2:p.Met1479Leu, NP_569076.2:p.Met1480Leu, NP_569076.2:p.Met1480Val, NP_569076.2:p.Met1480Leu, NP_569077.2:p.Met1470Leu, NP_569077.2:p.Met1470Val, NP_569077.2:p.Met1470Leu, NP_001164496.1:p.Met1479Leu, NP_001164496.1:p.Met1479Val, NP_001164496.1:p.Met1479Leu, NP_001035802.1:p.Met1476Leu, NP_001035802.1:p.Met1476Val, NP_001035802.1:p.Met1476Leu, NP_001364887.1:p.Met1906Leu, NP_001364887.1:p.Met1906Val, NP_001364887.1:p.Met1906Leu, NP_001364987.1:p.Met1891Leu, NP_001364987.1:p.Met1891Val, NP_001364987.1:p.Met1891Leu, NP_001364876.1:p.Met1473Leu, NP_001364876.1:p.Met1473Val, NP_001364876.1:p.Met1473Leu, NP_001364875.1:p.Met1483Leu, NP_001364875.1:p.Met1483Val, NP_001364875.1:p.Met1483Leu, XP_006716880.1:p.Met1903Leu, XP_006716880.1:p.Met1903Val, XP_006716880.1:p.Met1903Leu, XP_006716888.1:p.Met1886Leu, XP_006716888.1:p.Met1886Val, XP_006716888.1:p.Met1886Leu, XP_006716890.1:p.Met1867Leu, XP_006716890.1:p.Met1867Val, XP_006716890.1:p.Met1867Leu, XP_006716886.1:p.Met1887Leu, XP_006716886.1:p.Met1887Val, XP_006716886.1:p.Met1887Leu, XP_016870447.1:p.Met1906Leu, XP_016870447.1:p.Met1906Val, XP_016870447.1:p.Met1906Leu, XP_016870454.1:p.Met1905Leu, XP_016870454.1:p.Met1905Val, XP_016870454.1:p.Met1905Leu, XP_016870453.1:p.Met1905Leu, XP_016870453.1:p.Met1905Val, XP_016870453.1:p.Met1905Leu, XP_016870452.1:p.Met1905Leu, XP_016870452.1:p.Met1905Val, XP_016870452.1:p.Met1905Leu, XP_016870455.1:p.Met1903Leu, XP_016870455.1:p.Met1903Val, XP_016870455.1:p.Met1903Leu, XP_016870456.1:p.Met1902Leu, XP_016870456.1:p.Met1902Val, XP_016870456.1:p.Met1902Leu, XP_016870457.1:p.Met1901Leu, XP_016870457.1:p.Met1901Val, XP_016870457.1:p.Met1901Leu, XP_016870459.1:p.Met1900Leu, XP_016870459.1:p.Met1900Val, XP_016870459.1:p.Met1900Leu, XP_016870458.1:p.Met1900Leu, XP_016870458.1:p.Met1900Val, XP_016870458.1:p.Met1900Leu, XP_016870461.1:p.Met1897Leu, XP_016870461.1:p.Met1897Val, XP_016870461.1:p.Met1897Leu, XP_016870460.1:p.Met1897Leu, XP_016870460.1:p.Met1897Val, XP_016870460.1:p.Met1897Leu, XP_016870463.1:p.Met1896Leu, XP_016870463.1:p.Met1896Val, XP_016870463.1:p.Met1896Leu, XP_016870466.1:p.Met1892Leu, XP_016870466.1:p.Met1892Val, XP_016870466.1:p.Met1892Leu, XP_016870465.1:p.Met1892Leu, XP_016870465.1:p.Met1892Val, XP_016870465.1:p.Met1892Leu, XP_016870467.1:p.Met1891Leu, XP_016870467.1:p.Met1891Val, XP_016870467.1:p.Met1891Leu, XP_016870468.1:p.Met1890Leu, XP_016870468.1:p.Met1890Val, XP_016870468.1:p.Met1890Leu, XP_016870450.1:p.Met1906Leu, XP_016870450.1:p.Met1906Val, XP_016870450.1:p.Met1906Leu, XP_016870469.1:p.Met1877Leu, XP_016870469.1:p.Met1877Val, XP_016870469.1:p.Met1877Leu, XP_016870471.1:p.Met1495Leu, XP_016870471.1:p.Met1495Val, XP_016870471.1:p.Met1495Leu, XP_016870472.1:p.Met1494Leu, XP_016870472.1:p.Met1494Val, XP_016870472.1:p.Met1494Leu, XP_024303393.1:p.Met1899Leu, XP_024303393.1:p.Met1899Val, XP_024303393.1:p.Met1899Leu, XP_047279597.1:p.Met1906Leu, XP_047279597.1:p.Met1906Val, XP_047279597.1:p.Met1906Leu, XP_047279598.1:p.Met1900Leu, XP_047279598.1:p.Met1900Val, XP_047279598.1:p.Met1900Leu, XP_047279600.1:p.Met1891Leu, XP_047279600.1:p.Met1891Val, XP_047279600.1:p.Met1891Leu, XP_047279601.1:p.Met1887Leu, XP_047279601.1:p.Met1887Val, XP_047279601.1:p.Met1887Leu, XP_047279603.1:p.Met1885Leu, XP_047279603.1:p.Met1885Val, XP_047279603.1:p.Met1885Leu, XP_047279605.1:p.Met1881Leu, XP_047279605.1:p.Met1881Val, XP_047279605.1:p.Met1881Leu, XP_047279607.1:p.Met1878Leu, XP_047279607.1:p.Met1878Val, XP_047279607.1:p.Met1878Leu, XP_047279606.1:p.Met1878Leu, XP_047279606.1:p.Met1878Val, XP_047279606.1:p.Met1878Leu, XP_047279608.1:p.Met1877Leu, XP_047279608.1:p.Met1877Val, XP_047279608.1:p.Met1877Leu, XP_047279610.1:p.Met1876Leu, XP_047279610.1:p.Met1876Val, XP_047279610.1:p.Met1876Leu, XP_047279609.1:p.Met1876Leu, XP_047279609.1:p.Met1876Val, XP_047279609.1:p.Met1876Leu, XP_047279613.1:p.Met1872Leu, XP_047279613.1:p.Met1872Val, XP_047279613.1:p.Met1872Leu, XP_047279599.1:p.Met1893Leu, XP_047279599.1:p.Met1893Val, XP_047279599.1:p.Met1893Leu, XP_047279602.1:p.Met1886Leu, XP_047279602.1:p.Met1886Val, XP_047279602.1:p.Met1886Leu, XP_047279604.1:p.Met1883Leu, XP_047279604.1:p.Met1883Val, XP_047279604.1:p.Met1883Leu, XP_047279611.1:p.Met1874Leu, XP_047279611.1:p.Met1874Val, XP_047279611.1:p.Met1874Leu, XP_047279612.1:p.Met1873Leu, XP_047279612.1:p.Met1873Val, XP_047279612.1:p.Met1873Leu, XP_047279614.1:p.Met1865Leu, XP_047279614.1:p.Met1865Val, XP_047279614.1:p.Met1865Leu, XP_047279615.1:p.Met1864Leu, XP_047279615.1:p.Met1864Val, XP_047279615.1:p.Met1864Leu, XP_047279616.1:p.Met1863Leu, XP_047279616.1:p.Met1863Val, XP_047279616.1:p.Met1863Leu

                                    18.

                                    rs1483760786 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C [Show Flanks]
                                      Chromosome:
                                      9:8636841 (GRCh38)
                                      9:8636841 (GRCh37)
                                      Canonical SPDI:
                                      NC_000009.12:8636840:G:A,NC_000009.12:8636840:G:C
                                      Gene:
                                      PTPRD (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0.000062/2 (ALFA)
                                      A=0.000004/1 (TOPMED)
                                      A=0.000007/1 (GnomAD)
                                      A=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000009.12:g.8636841G>A, NC_000009.12:g.8636841G>C, NC_000009.11:g.8636841G>A, NC_000009.11:g.8636841G>C, NG_033963.1:g.1980883C>T, NG_033963.1:g.1980883C>G, NM_002839.4:c.68C>T, NM_002839.4:c.68C>G, NM_002839.3:c.68C>T, NM_002839.3:c.68C>G, NM_130391.4:c.68C>T, NM_130391.4:c.68C>G, NM_130391.3:c.68C>T, NM_130391.3:c.68C>G, NM_130392.3:c.68C>T, NM_130392.3:c.68C>G, NM_130393.3:c.68C>T, NM_130393.3:c.68C>G, NM_001171025.2:c.68C>T, NM_001171025.2:c.68C>G, NM_001171025.1:c.68C>T, NM_001171025.1:c.68C>G, NM_001040712.2:c.68C>T, NM_001040712.2:c.68C>G, NM_001377958.1:c.68C>T, NM_001377958.1:c.68C>G, NM_001378058.1:c.68C>T, NM_001378058.1:c.68C>G, NM_001377947.1:c.68C>T, NM_001377947.1:c.68C>G, NM_001377946.1:c.68C>T, NM_001377946.1:c.68C>G, XM_006716817.5:c.68C>T, XM_006716817.5:c.68C>G, XM_006716817.4:c.68C>T, XM_006716817.4:c.68C>G, XM_006716817.3:c.68C>T, XM_006716817.3:c.68C>G, XM_006716817.2:c.68C>T, XM_006716817.2:c.68C>G, XM_006716817.1:c.68C>T, XM_006716817.1:c.68C>G, XM_006716825.5:c.68C>T, XM_006716825.5:c.68C>G, XM_006716825.4:c.68C>T, XM_006716825.4:c.68C>G, XM_006716825.3:c.68C>T, XM_006716825.3:c.68C>G, XM_006716825.2:c.68C>T, XM_006716825.2:c.68C>G, XM_006716825.1:c.68C>T, XM_006716825.1:c.68C>G, XM_006716827.5:c.68C>T, XM_006716827.5:c.68C>G, XM_006716827.4:c.68C>T, XM_006716827.4:c.68C>G, XM_006716827.3:c.68C>T, XM_006716827.3:c.68C>G, XM_006716827.2:c.68C>T, XM_006716827.2:c.68C>G, XM_006716827.1:c.68C>T, XM_006716827.1:c.68C>G, XM_006716823.4:c.68C>T, XM_006716823.4:c.68C>G, XM_006716823.3:c.68C>T, XM_006716823.3:c.68C>G, XM_006716823.2:c.68C>T, XM_006716823.2:c.68C>G, XM_006716823.1:c.68C>T, XM_006716823.1:c.68C>G, XM_017014958.3:c.68C>T, XM_017014958.3:c.68C>G, XM_017014958.2:c.68C>T, XM_017014958.2:c.68C>G, XM_017014958.1:c.68C>T, XM_017014958.1:c.68C>G, XM_017014965.3:c.68C>T, XM_017014965.3:c.68C>G, XM_017014965.2:c.68C>T, XM_017014965.2:c.68C>G, XM_017014965.1:c.68C>T, XM_017014965.1:c.68C>G, XM_017014964.3:c.68C>T, XM_017014964.3:c.68C>G, XM_017014964.2:c.68C>T, XM_017014964.2:c.68C>G, XM_017014964.1:c.68C>T, XM_017014964.1:c.68C>G, XM_017014963.3:c.68C>T, XM_017014963.3:c.68C>G, XM_017014963.2:c.68C>T, XM_017014963.2:c.68C>G, XM_017014963.1:c.68C>T, XM_017014963.1:c.68C>G, XM_017014966.3:c.68C>T, XM_017014966.3:c.68C>G, XM_017014966.2:c.68C>T, XM_017014966.2:c.68C>G, XM_017014966.1:c.68C>T, XM_017014966.1:c.68C>G, XM_017014967.3:c.68C>T, XM_017014967.3:c.68C>G, XM_017014967.2:c.68C>T, XM_017014967.2:c.68C>G, XM_017014967.1:c.68C>T, XM_017014967.1:c.68C>G, XM_017014968.3:c.68C>T, XM_017014968.3:c.68C>G, XM_017014968.2:c.68C>T, XM_017014968.2:c.68C>G, XM_017014968.1:c.68C>T, XM_017014968.1:c.68C>G, XM_017014970.3:c.68C>T, XM_017014970.3:c.68C>G, XM_017014970.2:c.68C>T, XM_017014970.2:c.68C>G, XM_017014970.1:c.68C>T, XM_017014970.1:c.68C>G, XM_017014969.3:c.68C>T, XM_017014969.3:c.68C>G, XM_017014969.2:c.68C>T, XM_017014969.2:c.68C>G, XM_017014969.1:c.68C>T, XM_017014969.1:c.68C>G, XM_017014972.3:c.68C>T, XM_017014972.3:c.68C>G, XM_017014972.2:c.68C>T, XM_017014972.2:c.68C>G, XM_017014972.1:c.68C>T, XM_017014972.1:c.68C>G, XM_017014971.3:c.68C>T, XM_017014971.3:c.68C>G, XM_017014971.2:c.68C>T, XM_017014971.2:c.68C>G, XM_017014971.1:c.68C>T, XM_017014971.1:c.68C>G, XM_017014974.3:c.68C>T, XM_017014974.3:c.68C>G, XM_017014974.2:c.68C>T, XM_017014974.2:c.68C>G, XM_017014974.1:c.68C>T, XM_017014974.1:c.68C>G, XM_017014977.3:c.68C>T, XM_017014977.3:c.68C>G, XM_017014977.2:c.68C>T, XM_017014977.2:c.68C>G, XM_017014977.1:c.68C>T, XM_017014977.1:c.68C>G, XM_017014976.3:c.68C>T, XM_017014976.3:c.68C>G, XM_017014976.2:c.68C>T, XM_017014976.2:c.68C>G, XM_017014976.1:c.68C>T, XM_017014976.1:c.68C>G, XM_017014978.3:c.68C>T, XM_017014978.3:c.68C>G, XM_017014978.2:c.68C>T, XM_017014978.2:c.68C>G, XM_017014978.1:c.68C>T, XM_017014978.1:c.68C>G, XM_017014979.3:c.68C>T, XM_017014979.3:c.68C>G, XM_017014979.2:c.68C>T, XM_017014979.2:c.68C>G, XM_017014979.1:c.68C>T, XM_017014979.1:c.68C>G, XM_017014961.3:c.68C>T, XM_017014961.3:c.68C>G, XM_017014961.2:c.68C>T, XM_017014961.2:c.68C>G, XM_017014961.1:c.68C>T, XM_017014961.1:c.68C>G, XM_017014980.3:c.68C>T, XM_017014980.3:c.68C>G, XM_017014980.2:c.68C>T, XM_017014980.2:c.68C>G, XM_017014980.1:c.68C>T, XM_017014980.1:c.68C>G, XM_017014982.3:c.68C>T, XM_017014982.3:c.68C>G, XM_017014982.2:c.68C>T, XM_017014982.2:c.68C>G, XM_017014982.1:c.68C>T, XM_017014982.1:c.68C>G, XM_017014983.3:c.68C>T, XM_017014983.3:c.68C>G, XM_017014983.2:c.68C>T, XM_017014983.2:c.68C>G, XM_017014983.1:c.68C>T, XM_017014983.1:c.68C>G, XM_024447625.2:c.68C>T, XM_024447625.2:c.68C>G, XM_024447625.1:c.68C>T, XM_024447625.1:c.68C>G, XM_047423641.1:c.68C>T, XM_047423641.1:c.68C>G, XM_047423642.1:c.68C>T, XM_047423642.1:c.68C>G, XM_047423644.1:c.68C>T, XM_047423644.1:c.68C>G, XM_047423645.1:c.68C>T, XM_047423645.1:c.68C>G, XM_047423647.1:c.68C>T, XM_047423647.1:c.68C>G, XM_047423649.1:c.68C>T, XM_047423649.1:c.68C>G, XM_047423651.1:c.68C>T, XM_047423651.1:c.68C>G, XM_047423650.1:c.68C>T, XM_047423650.1:c.68C>G, XM_047423652.1:c.68C>T, XM_047423652.1:c.68C>G, XM_047423654.1:c.68C>T, XM_047423654.1:c.68C>G, XM_047423653.1:c.68C>T, XM_047423653.1:c.68C>G, XM_047423657.1:c.68C>T, XM_047423657.1:c.68C>G, XM_047423643.1:c.68C>T, XM_047423643.1:c.68C>G, XM_047423646.1:c.68C>T, XM_047423646.1:c.68C>G, XM_047423648.1:c.68C>T, XM_047423648.1:c.68C>G, XM_047423655.1:c.68C>T, XM_047423655.1:c.68C>G, XM_047423656.1:c.68C>T, XM_047423656.1:c.68C>G, XM_047423658.1:c.68C>T, XM_047423658.1:c.68C>G, XM_047423659.1:c.68C>T, XM_047423659.1:c.68C>G, XM_047423660.1:c.68C>T, XM_047423660.1:c.68C>G, NP_002830.1:p.Pro23Leu, NP_002830.1:p.Pro23Arg, NP_569075.2:p.Pro23Leu, NP_569075.2:p.Pro23Arg, NP_569076.2:p.Pro23Leu, NP_569076.2:p.Pro23Arg, NP_569077.2:p.Pro23Leu, NP_569077.2:p.Pro23Arg, NP_001164496.1:p.Pro23Leu, NP_001164496.1:p.Pro23Arg, NP_001035802.1:p.Pro23Leu, NP_001035802.1:p.Pro23Arg, NP_001364887.1:p.Pro23Leu, NP_001364887.1:p.Pro23Arg, NP_001364987.1:p.Pro23Leu, NP_001364987.1:p.Pro23Arg, NP_001364876.1:p.Pro23Leu, NP_001364876.1:p.Pro23Arg, NP_001364875.1:p.Pro23Leu, NP_001364875.1:p.Pro23Arg, XP_006716880.1:p.Pro23Leu, XP_006716880.1:p.Pro23Arg, XP_006716888.1:p.Pro23Leu, XP_006716888.1:p.Pro23Arg, XP_006716890.1:p.Pro23Leu, XP_006716890.1:p.Pro23Arg, XP_006716886.1:p.Pro23Leu, XP_006716886.1:p.Pro23Arg, XP_016870447.1:p.Pro23Leu, XP_016870447.1:p.Pro23Arg, XP_016870454.1:p.Pro23Leu, XP_016870454.1:p.Pro23Arg, XP_016870453.1:p.Pro23Leu, XP_016870453.1:p.Pro23Arg, XP_016870452.1:p.Pro23Leu, XP_016870452.1:p.Pro23Arg, XP_016870455.1:p.Pro23Leu, XP_016870455.1:p.Pro23Arg, XP_016870456.1:p.Pro23Leu, XP_016870456.1:p.Pro23Arg, XP_016870457.1:p.Pro23Leu, XP_016870457.1:p.Pro23Arg, XP_016870459.1:p.Pro23Leu, XP_016870459.1:p.Pro23Arg, XP_016870458.1:p.Pro23Leu, XP_016870458.1:p.Pro23Arg, XP_016870461.1:p.Pro23Leu, XP_016870461.1:p.Pro23Arg, XP_016870460.1:p.Pro23Leu, XP_016870460.1:p.Pro23Arg, XP_016870463.1:p.Pro23Leu, XP_016870463.1:p.Pro23Arg, XP_016870466.1:p.Pro23Leu, XP_016870466.1:p.Pro23Arg, XP_016870465.1:p.Pro23Leu, XP_016870465.1:p.Pro23Arg, XP_016870467.1:p.Pro23Leu, XP_016870467.1:p.Pro23Arg, XP_016870468.1:p.Pro23Leu, XP_016870468.1:p.Pro23Arg, XP_016870450.1:p.Pro23Leu, XP_016870450.1:p.Pro23Arg, XP_016870469.1:p.Pro23Leu, XP_016870469.1:p.Pro23Arg, XP_016870471.1:p.Pro23Leu, XP_016870471.1:p.Pro23Arg, XP_016870472.1:p.Pro23Leu, XP_016870472.1:p.Pro23Arg, XP_024303393.1:p.Pro23Leu, XP_024303393.1:p.Pro23Arg, XP_047279597.1:p.Pro23Leu, XP_047279597.1:p.Pro23Arg, XP_047279598.1:p.Pro23Leu, XP_047279598.1:p.Pro23Arg, XP_047279600.1:p.Pro23Leu, XP_047279600.1:p.Pro23Arg, XP_047279601.1:p.Pro23Leu, XP_047279601.1:p.Pro23Arg, XP_047279603.1:p.Pro23Leu, XP_047279603.1:p.Pro23Arg, XP_047279605.1:p.Pro23Leu, XP_047279605.1:p.Pro23Arg, XP_047279607.1:p.Pro23Leu, XP_047279607.1:p.Pro23Arg, XP_047279606.1:p.Pro23Leu, XP_047279606.1:p.Pro23Arg, XP_047279608.1:p.Pro23Leu, XP_047279608.1:p.Pro23Arg, XP_047279610.1:p.Pro23Leu, XP_047279610.1:p.Pro23Arg, XP_047279609.1:p.Pro23Leu, XP_047279609.1:p.Pro23Arg, XP_047279613.1:p.Pro23Leu, XP_047279613.1:p.Pro23Arg, XP_047279599.1:p.Pro23Leu, XP_047279599.1:p.Pro23Arg, XP_047279602.1:p.Pro23Leu, XP_047279602.1:p.Pro23Arg, XP_047279604.1:p.Pro23Leu, XP_047279604.1:p.Pro23Arg, XP_047279611.1:p.Pro23Leu, XP_047279611.1:p.Pro23Arg, XP_047279612.1:p.Pro23Leu, XP_047279612.1:p.Pro23Arg, XP_047279614.1:p.Pro23Leu, XP_047279614.1:p.Pro23Arg, XP_047279615.1:p.Pro23Leu, XP_047279615.1:p.Pro23Arg, XP_047279616.1:p.Pro23Leu, XP_047279616.1:p.Pro23Arg

                                      19.

                                      rs1483502370 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A [Show Flanks]
                                        Chromosome:
                                        9:8331683 (GRCh38)
                                        9:8331683 (GRCh37)
                                        Canonical SPDI:
                                        NC_000009.12:8331682:T:A
                                        Gene:
                                        PTPRD (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000004/1 (GnomAD_exomes)
                                        A=0.000014/2 (GnomAD)
                                        HGVS:
                                        NC_000009.12:g.8331683T>A, NC_000009.11:g.8331683T>A, NG_033963.1:g.2286041A>T, NM_002839.4:c.5433A>T, NM_002839.3:c.5433A>T, NM_130391.4:c.4212A>T, NM_130391.3:c.4212A>T, NM_130392.3:c.4215A>T, NM_130393.3:c.4185A>T, NM_001171025.2:c.4212A>T, NM_001171025.1:c.4212A>T, NM_001040712.2:c.4203A>T, NM_001377958.1:c.5493A>T, NM_001378058.1:c.5448A>T, NM_001377947.1:c.4194A>T, NM_001377946.1:c.4224A>T, XM_006716817.5:c.5484A>T, XM_006716817.4:c.5484A>T, XM_006716817.3:c.5484A>T, XM_006716817.2:c.5484A>T, XM_006716817.1:c.5484A>T, XM_006716825.5:c.5433A>T, XM_006716825.4:c.5433A>T, XM_006716825.3:c.5433A>T, XM_006716825.2:c.5433A>T, XM_006716825.1:c.5433A>T, XM_006716827.5:c.5376A>T, XM_006716827.4:c.5376A>T, XM_006716827.3:c.5376A>T, XM_006716827.2:c.5376A>T, XM_006716827.1:c.5376A>T, XM_006716823.4:c.5436A>T, XM_006716823.3:c.5436A>T, XM_006716823.2:c.5436A>T, XM_006716823.1:c.5436A>T, XM_017014958.3:c.5493A>T, XM_017014958.2:c.5493A>T, XM_017014958.1:c.5493A>T, XM_017014965.3:c.5490A>T, XM_017014965.2:c.5490A>T, XM_017014965.1:c.5490A>T, XM_017014964.3:c.5490A>T, XM_017014964.2:c.5490A>T, XM_017014964.1:c.5490A>T, XM_017014963.3:c.5490A>T, XM_017014963.2:c.5490A>T, XM_017014963.1:c.5490A>T, XM_017014966.3:c.5484A>T, XM_017014966.2:c.5484A>T, XM_017014966.1:c.5484A>T, XM_017014967.3:c.5481A>T, XM_017014967.2:c.5481A>T, XM_017014967.1:c.5481A>T, XM_017014968.3:c.5478A>T, XM_017014968.2:c.5478A>T, XM_017014968.1:c.5478A>T, XM_017014970.3:c.5475A>T, XM_017014970.2:c.5475A>T, XM_017014970.1:c.5475A>T, XM_017014969.3:c.5475A>T, XM_017014969.2:c.5475A>T, XM_017014969.1:c.5475A>T, XM_017014972.3:c.5466A>T, XM_017014972.2:c.5466A>T, XM_017014972.1:c.5466A>T, XM_017014971.3:c.5466A>T, XM_017014971.2:c.5466A>T, XM_017014971.1:c.5466A>T, XM_017014974.3:c.5463A>T, XM_017014974.2:c.5463A>T, XM_017014974.1:c.5463A>T, XM_017014977.3:c.5451A>T, XM_017014977.2:c.5451A>T, XM_017014977.1:c.5451A>T, XM_017014976.3:c.5451A>T, XM_017014976.2:c.5451A>T, XM_017014976.1:c.5451A>T, XM_017014978.3:c.5448A>T, XM_017014978.2:c.5448A>T, XM_017014978.1:c.5448A>T, XM_017014979.3:c.5445A>T, XM_017014979.2:c.5445A>T, XM_017014979.1:c.5445A>T, XM_017014961.3:c.5493A>T, XM_017014961.2:c.5493A>T, XM_017014961.1:c.5493A>T, XM_017014980.3:c.5406A>T, XM_017014980.2:c.5406A>T, XM_017014980.1:c.5406A>T, XM_017014982.3:c.4260A>T, XM_017014982.2:c.4260A>T, XM_017014982.1:c.4260A>T, XM_017014983.3:c.4257A>T, XM_017014983.2:c.4257A>T, XM_017014983.1:c.4257A>T, XM_024447625.2:c.5472A>T, XM_024447625.1:c.5472A>T, XM_047423641.1:c.5493A>T, XM_047423642.1:c.5475A>T, XM_047423644.1:c.5448A>T, XM_047423645.1:c.5436A>T, XM_047423647.1:c.5430A>T, XM_047423649.1:c.5418A>T, XM_047423651.1:c.5409A>T, XM_047423650.1:c.5409A>T, XM_047423652.1:c.5406A>T, XM_047423654.1:c.5403A>T, XM_047423653.1:c.5403A>T, XM_047423657.1:c.5391A>T, XM_047423643.1:c.5454A>T, XM_047423646.1:c.5433A>T, XM_047423648.1:c.5424A>T, XM_047423655.1:c.5397A>T, XM_047423656.1:c.5394A>T, XM_047423658.1:c.5370A>T, XM_047423659.1:c.5367A>T, XM_047423660.1:c.5364A>T, NP_002830.1:p.Gln1811His, NP_569075.2:p.Gln1404His, NP_569076.2:p.Gln1405His, NP_569077.2:p.Gln1395His, NP_001164496.1:p.Gln1404His, NP_001035802.1:p.Gln1401His, NP_001364887.1:p.Gln1831His, NP_001364987.1:p.Gln1816His, NP_001364876.1:p.Gln1398His, NP_001364875.1:p.Gln1408His, XP_006716880.1:p.Gln1828His, XP_006716888.1:p.Gln1811His, XP_006716890.1:p.Gln1792His, XP_006716886.1:p.Gln1812His, XP_016870447.1:p.Gln1831His, XP_016870454.1:p.Gln1830His, XP_016870453.1:p.Gln1830His, XP_016870452.1:p.Gln1830His, XP_016870455.1:p.Gln1828His, XP_016870456.1:p.Gln1827His, XP_016870457.1:p.Gln1826His, XP_016870459.1:p.Gln1825His, XP_016870458.1:p.Gln1825His, XP_016870461.1:p.Gln1822His, XP_016870460.1:p.Gln1822His, XP_016870463.1:p.Gln1821His, XP_016870466.1:p.Gln1817His, XP_016870465.1:p.Gln1817His, XP_016870467.1:p.Gln1816His, XP_016870468.1:p.Gln1815His, XP_016870450.1:p.Gln1831His, XP_016870469.1:p.Gln1802His, XP_016870471.1:p.Gln1420His, XP_016870472.1:p.Gln1419His, XP_024303393.1:p.Gln1824His, XP_047279597.1:p.Gln1831His, XP_047279598.1:p.Gln1825His, XP_047279600.1:p.Gln1816His, XP_047279601.1:p.Gln1812His, XP_047279603.1:p.Gln1810His, XP_047279605.1:p.Gln1806His, XP_047279607.1:p.Gln1803His, XP_047279606.1:p.Gln1803His, XP_047279608.1:p.Gln1802His, XP_047279610.1:p.Gln1801His, XP_047279609.1:p.Gln1801His, XP_047279613.1:p.Gln1797His, XP_047279599.1:p.Gln1818His, XP_047279602.1:p.Gln1811His, XP_047279604.1:p.Gln1808His, XP_047279611.1:p.Gln1799His, XP_047279612.1:p.Gln1798His, XP_047279614.1:p.Gln1790His, XP_047279615.1:p.Gln1789His, XP_047279616.1:p.Gln1788His

                                        20.

                                        rs1483006238 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C,T [Show Flanks]
                                          Chromosome:
                                          9:8633431 (GRCh38)
                                          9:8633431 (GRCh37)
                                          Canonical SPDI:
                                          NC_000009.12:8633430:A:C,NC_000009.12:8633430:A:T
                                          Gene:
                                          PTPRD (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000009.12:g.8633431A>C, NC_000009.12:g.8633431A>T, NC_000009.11:g.8633431A>C, NC_000009.11:g.8633431A>T, NG_033963.1:g.1984293T>G, NG_033963.1:g.1984293T>A, NM_002839.4:c.238T>G, NM_002839.4:c.238T>A, NM_002839.3:c.238T>G, NM_002839.3:c.238T>A, NM_130391.4:c.238T>G, NM_130391.4:c.238T>A, NM_130391.3:c.238T>G, NM_130391.3:c.238T>A, NM_130392.3:c.238T>G, NM_130392.3:c.238T>A, NM_130393.3:c.238T>G, NM_130393.3:c.238T>A, NM_001171025.2:c.238T>G, NM_001171025.2:c.238T>A, NM_001171025.1:c.238T>G, NM_001171025.1:c.238T>A, NM_001040712.2:c.238T>G, NM_001040712.2:c.238T>A, NM_001377958.1:c.238T>G, NM_001377958.1:c.238T>A, NM_001378058.1:c.238T>G, NM_001378058.1:c.238T>A, NM_001377947.1:c.238T>G, NM_001377947.1:c.238T>A, NM_001377946.1:c.238T>G, NM_001377946.1:c.238T>A, XM_006716817.5:c.238T>G, XM_006716817.5:c.238T>A, XM_006716817.4:c.238T>G, XM_006716817.4:c.238T>A, XM_006716817.3:c.238T>G, XM_006716817.3:c.238T>A, XM_006716817.2:c.238T>G, XM_006716817.2:c.238T>A, XM_006716817.1:c.238T>G, XM_006716817.1:c.238T>A, XM_006716825.5:c.238T>G, XM_006716825.5:c.238T>A, XM_006716825.4:c.238T>G, XM_006716825.4:c.238T>A, XM_006716825.3:c.238T>G, XM_006716825.3:c.238T>A, XM_006716825.2:c.238T>G, XM_006716825.2:c.238T>A, XM_006716825.1:c.238T>G, XM_006716825.1:c.238T>A, XM_006716827.5:c.238T>G, XM_006716827.5:c.238T>A, XM_006716827.4:c.238T>G, XM_006716827.4:c.238T>A, XM_006716827.3:c.238T>G, XM_006716827.3:c.238T>A, XM_006716827.2:c.238T>G, XM_006716827.2:c.238T>A, XM_006716827.1:c.238T>G, XM_006716827.1:c.238T>A, XM_006716823.4:c.238T>G, XM_006716823.4:c.238T>A, XM_006716823.3:c.238T>G, XM_006716823.3:c.238T>A, XM_006716823.2:c.238T>G, XM_006716823.2:c.238T>A, XM_006716823.1:c.238T>G, XM_006716823.1:c.238T>A, XM_017014958.3:c.238T>G, XM_017014958.3:c.238T>A, XM_017014958.2:c.238T>G, XM_017014958.2:c.238T>A, XM_017014958.1:c.238T>G, XM_017014958.1:c.238T>A, XM_017014965.3:c.238T>G, XM_017014965.3:c.238T>A, XM_017014965.2:c.238T>G, XM_017014965.2:c.238T>A, XM_017014965.1:c.238T>G, XM_017014965.1:c.238T>A, XM_017014964.3:c.238T>G, XM_017014964.3:c.238T>A, XM_017014964.2:c.238T>G, XM_017014964.2:c.238T>A, XM_017014964.1:c.238T>G, XM_017014964.1:c.238T>A, XM_017014963.3:c.238T>G, XM_017014963.3:c.238T>A, XM_017014963.2:c.238T>G, XM_017014963.2:c.238T>A, XM_017014963.1:c.238T>G, XM_017014963.1:c.238T>A, XM_017014966.3:c.238T>G, XM_017014966.3:c.238T>A, XM_017014966.2:c.238T>G, XM_017014966.2:c.238T>A, XM_017014966.1:c.238T>G, XM_017014966.1:c.238T>A, XM_017014967.3:c.238T>G, XM_017014967.3:c.238T>A, XM_017014967.2:c.238T>G, XM_017014967.2:c.238T>A, XM_017014967.1:c.238T>G, XM_017014967.1:c.238T>A, XM_017014968.3:c.238T>G, XM_017014968.3:c.238T>A, XM_017014968.2:c.238T>G, XM_017014968.2:c.238T>A, XM_017014968.1:c.238T>G, XM_017014968.1:c.238T>A, XM_017014970.3:c.238T>G, XM_017014970.3:c.238T>A, XM_017014970.2:c.238T>G, XM_017014970.2:c.238T>A, XM_017014970.1:c.238T>G, XM_017014970.1:c.238T>A, XM_017014969.3:c.238T>G, XM_017014969.3:c.238T>A, XM_017014969.2:c.238T>G, XM_017014969.2:c.238T>A, XM_017014969.1:c.238T>G, XM_017014969.1:c.238T>A, XM_017014972.3:c.238T>G, XM_017014972.3:c.238T>A, XM_017014972.2:c.238T>G, XM_017014972.2:c.238T>A, XM_017014972.1:c.238T>G, XM_017014972.1:c.238T>A, XM_017014971.3:c.238T>G, XM_017014971.3:c.238T>A, XM_017014971.2:c.238T>G, XM_017014971.2:c.238T>A, XM_017014971.1:c.238T>G, XM_017014971.1:c.238T>A, XM_017014974.3:c.238T>G, XM_017014974.3:c.238T>A, XM_017014974.2:c.238T>G, XM_017014974.2:c.238T>A, XM_017014974.1:c.238T>G, XM_017014974.1:c.238T>A, XM_017014977.3:c.238T>G, XM_017014977.3:c.238T>A, XM_017014977.2:c.238T>G, XM_017014977.2:c.238T>A, XM_017014977.1:c.238T>G, XM_017014977.1:c.238T>A, XM_017014976.3:c.238T>G, XM_017014976.3:c.238T>A, XM_017014976.2:c.238T>G, XM_017014976.2:c.238T>A, XM_017014976.1:c.238T>G, XM_017014976.1:c.238T>A, XM_017014978.3:c.238T>G, XM_017014978.3:c.238T>A, XM_017014978.2:c.238T>G, XM_017014978.2:c.238T>A, XM_017014978.1:c.238T>G, XM_017014978.1:c.238T>A, XM_017014979.3:c.238T>G, XM_017014979.3:c.238T>A, XM_017014979.2:c.238T>G, XM_017014979.2:c.238T>A, XM_017014979.1:c.238T>G, XM_017014979.1:c.238T>A, XM_017014961.3:c.238T>G, XM_017014961.3:c.238T>A, XM_017014961.2:c.238T>G, XM_017014961.2:c.238T>A, XM_017014961.1:c.238T>G, XM_017014961.1:c.238T>A, XM_017014980.3:c.238T>G, XM_017014980.3:c.238T>A, XM_017014980.2:c.238T>G, XM_017014980.2:c.238T>A, XM_017014980.1:c.238T>G, XM_017014980.1:c.238T>A, XM_017014982.3:c.238T>G, XM_017014982.3:c.238T>A, XM_017014982.2:c.238T>G, XM_017014982.2:c.238T>A, XM_017014982.1:c.238T>G, XM_017014982.1:c.238T>A, XM_017014983.3:c.238T>G, XM_017014983.3:c.238T>A, XM_017014983.2:c.238T>G, XM_017014983.2:c.238T>A, XM_017014983.1:c.238T>G, XM_017014983.1:c.238T>A, XM_024447625.2:c.238T>G, XM_024447625.2:c.238T>A, XM_024447625.1:c.238T>G, XM_024447625.1:c.238T>A, XM_047423641.1:c.238T>G, XM_047423641.1:c.238T>A, XM_047423642.1:c.238T>G, XM_047423642.1:c.238T>A, XM_047423644.1:c.238T>G, XM_047423644.1:c.238T>A, XM_047423645.1:c.238T>G, XM_047423645.1:c.238T>A, XM_047423647.1:c.238T>G, XM_047423647.1:c.238T>A, XM_047423649.1:c.238T>G, XM_047423649.1:c.238T>A, XM_047423651.1:c.238T>G, XM_047423651.1:c.238T>A, XM_047423650.1:c.238T>G, XM_047423650.1:c.238T>A, XM_047423652.1:c.238T>G, XM_047423652.1:c.238T>A, XM_047423654.1:c.238T>G, XM_047423654.1:c.238T>A, XM_047423653.1:c.238T>G, XM_047423653.1:c.238T>A, XM_047423657.1:c.238T>G, XM_047423657.1:c.238T>A, XM_047423643.1:c.238T>G, XM_047423643.1:c.238T>A, XM_047423646.1:c.238T>G, XM_047423646.1:c.238T>A, XM_047423648.1:c.238T>G, XM_047423648.1:c.238T>A, XM_047423655.1:c.238T>G, XM_047423655.1:c.238T>A, XM_047423656.1:c.238T>G, XM_047423656.1:c.238T>A, XM_047423658.1:c.238T>G, XM_047423658.1:c.238T>A, XM_047423659.1:c.238T>G, XM_047423659.1:c.238T>A, XM_047423660.1:c.238T>G, XM_047423660.1:c.238T>A, NP_002830.1:p.Ser80Ala, NP_002830.1:p.Ser80Thr, NP_569075.2:p.Ser80Ala, NP_569075.2:p.Ser80Thr, NP_569076.2:p.Ser80Ala, NP_569076.2:p.Ser80Thr, NP_569077.2:p.Ser80Ala, NP_569077.2:p.Ser80Thr, NP_001164496.1:p.Ser80Ala, NP_001164496.1:p.Ser80Thr, NP_001035802.1:p.Ser80Ala, NP_001035802.1:p.Ser80Thr, NP_001364887.1:p.Ser80Ala, NP_001364887.1:p.Ser80Thr, NP_001364987.1:p.Ser80Ala, NP_001364987.1:p.Ser80Thr, NP_001364876.1:p.Ser80Ala, NP_001364876.1:p.Ser80Thr, NP_001364875.1:p.Ser80Ala, NP_001364875.1:p.Ser80Thr, XP_006716880.1:p.Ser80Ala, XP_006716880.1:p.Ser80Thr, XP_006716888.1:p.Ser80Ala, XP_006716888.1:p.Ser80Thr, XP_006716890.1:p.Ser80Ala, XP_006716890.1:p.Ser80Thr, XP_006716886.1:p.Ser80Ala, XP_006716886.1:p.Ser80Thr, XP_016870447.1:p.Ser80Ala, XP_016870447.1:p.Ser80Thr, XP_016870454.1:p.Ser80Ala, XP_016870454.1:p.Ser80Thr, XP_016870453.1:p.Ser80Ala, XP_016870453.1:p.Ser80Thr, XP_016870452.1:p.Ser80Ala, XP_016870452.1:p.Ser80Thr, XP_016870455.1:p.Ser80Ala, XP_016870455.1:p.Ser80Thr, XP_016870456.1:p.Ser80Ala, XP_016870456.1:p.Ser80Thr, XP_016870457.1:p.Ser80Ala, XP_016870457.1:p.Ser80Thr, XP_016870459.1:p.Ser80Ala, XP_016870459.1:p.Ser80Thr, XP_016870458.1:p.Ser80Ala, XP_016870458.1:p.Ser80Thr, XP_016870461.1:p.Ser80Ala, XP_016870461.1:p.Ser80Thr, XP_016870460.1:p.Ser80Ala, XP_016870460.1:p.Ser80Thr, XP_016870463.1:p.Ser80Ala, XP_016870463.1:p.Ser80Thr, XP_016870466.1:p.Ser80Ala, XP_016870466.1:p.Ser80Thr, XP_016870465.1:p.Ser80Ala, XP_016870465.1:p.Ser80Thr, XP_016870467.1:p.Ser80Ala, XP_016870467.1:p.Ser80Thr, XP_016870468.1:p.Ser80Ala, XP_016870468.1:p.Ser80Thr, XP_016870450.1:p.Ser80Ala, XP_016870450.1:p.Ser80Thr, XP_016870469.1:p.Ser80Ala, XP_016870469.1:p.Ser80Thr, XP_016870471.1:p.Ser80Ala, XP_016870471.1:p.Ser80Thr, XP_016870472.1:p.Ser80Ala, XP_016870472.1:p.Ser80Thr, XP_024303393.1:p.Ser80Ala, XP_024303393.1:p.Ser80Thr, XP_047279597.1:p.Ser80Ala, XP_047279597.1:p.Ser80Thr, XP_047279598.1:p.Ser80Ala, XP_047279598.1:p.Ser80Thr, XP_047279600.1:p.Ser80Ala, XP_047279600.1:p.Ser80Thr, XP_047279601.1:p.Ser80Ala, XP_047279601.1:p.Ser80Thr, XP_047279603.1:p.Ser80Ala, XP_047279603.1:p.Ser80Thr, XP_047279605.1:p.Ser80Ala, XP_047279605.1:p.Ser80Thr, XP_047279607.1:p.Ser80Ala, XP_047279607.1:p.Ser80Thr, XP_047279606.1:p.Ser80Ala, XP_047279606.1:p.Ser80Thr, XP_047279608.1:p.Ser80Ala, XP_047279608.1:p.Ser80Thr, XP_047279610.1:p.Ser80Ala, XP_047279610.1:p.Ser80Thr, XP_047279609.1:p.Ser80Ala, XP_047279609.1:p.Ser80Thr, XP_047279613.1:p.Ser80Ala, XP_047279613.1:p.Ser80Thr, XP_047279599.1:p.Ser80Ala, XP_047279599.1:p.Ser80Thr, XP_047279602.1:p.Ser80Ala, XP_047279602.1:p.Ser80Thr, XP_047279604.1:p.Ser80Ala, XP_047279604.1:p.Ser80Thr, XP_047279611.1:p.Ser80Ala, XP_047279611.1:p.Ser80Thr, XP_047279612.1:p.Ser80Ala, XP_047279612.1:p.Ser80Thr, XP_047279614.1:p.Ser80Ala, XP_047279614.1:p.Ser80Thr, XP_047279615.1:p.Ser80Ala, XP_047279615.1:p.Ser80Thr, XP_047279616.1:p.Ser80Ala, XP_047279616.1:p.Ser80Thr

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