U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from Protein

Items: 1 to 20 of 1672

1.

rs1490686871 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    GA>- [Show Flanks]
    Chromosome:
    1:43605580 (GRCh38)
    1:44071251 (GRCh37)
    Canonical SPDI:
    NC_000001.11:43605579:GA:
    Gene:
    PTPRF (Varview)
    Functional Consequence:
    frameshift_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    -=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.43605580_43605581del, NC_000001.10:g.44071251_44071252del, NG_047072.1:g.88343_88344del, NM_002840.5:c.3441_3442del, NM_002840.4:c.3441_3442del, NM_002840.3:c.3441_3442del, NM_130440.4:c.3414_3415del, NM_130440.3:c.3414_3415del, NM_130440.2:c.3414_3415del, NM_001329138.2:c.2586_2587del, NM_001329138.1:c.2586_2587del, NM_001329137.2:c.2574_2575del, NM_001329137.1:c.2574_2575del, NM_001329139.2:c.2556_2557del, NM_001329139.1:c.2556_2557del, NM_001329140.2:c.2529_2530del, NM_001329140.1:c.2529_2530del, XM_011541871.4:c.3453_3454del, XM_011541871.3:c.3453_3454del, XM_011541871.2:c.3453_3454del, XM_011541871.1:c.3453_3454del, XM_011541872.4:c.3453_3454del, XM_011541872.3:c.3453_3454del, XM_011541872.2:c.3453_3454del, XM_011541872.1:c.3453_3454del, XM_006710795.4:c.3453_3454del, XM_006710795.3:c.3453_3454del, XM_006710795.2:c.3453_3454del, XM_006710795.1:c.3453_3454del, XM_005271079.4:c.3453_3454del, XM_005271079.3:c.3453_3454del, XM_005271079.2:c.3453_3454del, XM_005271079.1:c.3453_3454del, XM_005271080.4:c.3441_3442del, XM_005271080.3:c.3441_3442del, XM_005271080.2:c.3441_3442del, XM_005271080.1:c.3441_3442del, XM_006710796.4:c.3426_3427del, XM_006710796.3:c.3426_3427del, XM_006710796.2:c.3426_3427del, XM_006710796.1:c.3426_3427del, XM_006710797.4:c.3453_3454del, XM_006710797.3:c.3453_3454del, XM_006710797.2:c.3453_3454del, XM_006710797.1:c.3453_3454del, XM_005271081.4:c.3414_3415del, XM_005271081.3:c.3414_3415del, XM_005271081.2:c.3414_3415del, XM_005271081.1:c.3414_3415del, XM_006710798.4:c.3426_3427del, XM_006710798.3:c.3426_3427del, XM_006710798.2:c.3426_3427del, XM_006710798.1:c.3426_3427del, XM_006710799.4:c.3147_3148del, XM_006710799.3:c.3147_3148del, XM_006710799.2:c.3147_3148del, XM_006710799.1:c.3147_3148del, XM_006710800.4:c.3120_3121del, XM_006710800.3:c.3120_3121del, XM_006710800.2:c.3120_3121del, XM_006710800.1:c.3120_3121del, XM_005271082.4:c.3108_3109del, XM_005271082.3:c.3108_3109del, XM_005271082.2:c.3108_3109del, XM_005271082.1:c.3108_3109del, XM_006710801.4:c.2874_2875del, XM_006710801.3:c.2874_2875del, XM_006710801.2:c.2874_2875del, XM_006710801.1:c.2874_2875del, XM_011541873.3:c.3453_3454del, XM_011541873.2:c.3453_3454del, XM_011541873.1:c.3453_3454del, XM_017001942.3:c.3423_3424del, XM_017001942.2:c.3423_3424del, XM_017001942.1:c.3423_3424del, XM_017001945.2:c.3108_3109del, XM_017001945.1:c.3108_3109del, XM_017001944.2:c.3120_3121del, XM_017001944.1:c.3120_3121del, XM_017001946.2:c.2568_2569del, XM_017001946.1:c.2568_2569del, XM_047426475.1:c.3411_3412del, XM_047426483.1:c.3411_3412del, XM_047426486.1:c.3384_3385del, XM_047426492.1:c.3147_3148del, XM_047426501.1:c.2847_2848del, XM_047426504.1:c.2874_2875del, XM_047426493.1:c.3135_3136del, XM_047426507.1:c.2862_2863del, XM_047426512.1:c.2847_2848del, XM_047426514.1:c.2835_2836del, XM_047426519.1:c.2832_2833del, NP_002831.2:p.Thr1148fs, NP_569707.2:p.Thr1139fs, NP_001316067.1:p.Thr863fs, NP_001316066.1:p.Thr859fs, NP_001316068.1:p.Thr853fs, NP_001316069.1:p.Thr844fs, XP_011540173.1:p.Thr1152fs, XP_011540174.1:p.Thr1152fs, XP_006710858.1:p.Thr1152fs, XP_005271136.1:p.Thr1152fs, XP_005271137.1:p.Thr1148fs, XP_006710859.1:p.Thr1143fs, XP_006710860.1:p.Thr1152fs, XP_005271138.1:p.Thr1139fs, XP_006710861.1:p.Thr1143fs, XP_006710862.1:p.Thr1050fs, XP_006710863.1:p.Thr1041fs, XP_005271139.1:p.Thr1037fs, XP_006710864.1:p.Thr959fs, XP_011540175.1:p.Thr1152fs, XP_016857431.1:p.Thr1142fs, XP_016857434.1:p.Thr1037fs, XP_016857433.1:p.Thr1041fs, XP_016857435.1:p.Thr857fs, XP_047282431.1:p.Thr1138fs, XP_047282439.1:p.Thr1138fs, XP_047282442.1:p.Thr1129fs, XP_047282448.1:p.Thr1050fs, XP_047282457.1:p.Thr950fs, XP_047282460.1:p.Thr959fs, XP_047282449.1:p.Thr1046fs, XP_047282463.1:p.Thr955fs, XP_047282468.1:p.Thr950fs, XP_047282470.1:p.Thr946fs, XP_047282475.1:p.Thr945fs

    2.

    rs1490262416 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      1:43591458 (GRCh38)
      1:44057129 (GRCh37)
      Canonical SPDI:
      NC_000001.11:43591457:T:C
      Gene:
      PTPRF (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000004/1 (TOPMED)
      C=0.000007/1 (GnomAD)
      HGVS:
      NC_000001.11:g.43591458T>C, NC_000001.10:g.44057129T>C, NG_047072.1:g.74221T>C, NM_002840.5:c.1436T>C, NM_002840.4:c.1436T>C, NM_002840.3:c.1436T>C, NM_130440.4:c.1436T>C, NM_130440.3:c.1436T>C, NM_130440.2:c.1436T>C, NM_001329138.2:c.1466T>C, NM_001329138.1:c.1466T>C, NM_001329137.2:c.1454T>C, NM_001329137.1:c.1454T>C, NM_001329139.2:c.1436T>C, NM_001329139.1:c.1436T>C, NM_001329140.2:c.1436T>C, NM_001329140.1:c.1436T>C, XM_011541871.4:c.1448T>C, XM_011541871.3:c.1448T>C, XM_011541871.2:c.1448T>C, XM_011541871.1:c.1448T>C, XM_011541872.4:c.1448T>C, XM_011541872.3:c.1448T>C, XM_011541872.2:c.1448T>C, XM_011541872.1:c.1448T>C, XM_006710795.4:c.1448T>C, XM_006710795.3:c.1448T>C, XM_006710795.2:c.1448T>C, XM_006710795.1:c.1448T>C, XM_005271079.4:c.1448T>C, XM_005271079.3:c.1448T>C, XM_005271079.2:c.1448T>C, XM_005271079.1:c.1448T>C, XM_005271080.4:c.1436T>C, XM_005271080.3:c.1436T>C, XM_005271080.2:c.1436T>C, XM_005271080.1:c.1436T>C, XM_006710796.4:c.1448T>C, XM_006710796.3:c.1448T>C, XM_006710796.2:c.1448T>C, XM_006710796.1:c.1448T>C, XM_006710797.4:c.1448T>C, XM_006710797.3:c.1448T>C, XM_006710797.2:c.1448T>C, XM_006710797.1:c.1448T>C, XM_005271081.4:c.1436T>C, XM_005271081.3:c.1436T>C, XM_005271081.2:c.1436T>C, XM_005271081.1:c.1436T>C, XM_006710798.4:c.1448T>C, XM_006710798.3:c.1448T>C, XM_006710798.2:c.1448T>C, XM_006710798.1:c.1448T>C, XM_006710799.4:c.1448T>C, XM_006710799.3:c.1448T>C, XM_006710799.2:c.1448T>C, XM_006710799.1:c.1448T>C, XM_006710800.4:c.1448T>C, XM_006710800.3:c.1448T>C, XM_006710800.2:c.1448T>C, XM_006710800.1:c.1448T>C, XM_005271082.4:c.1436T>C, XM_005271082.3:c.1436T>C, XM_005271082.2:c.1436T>C, XM_005271082.1:c.1436T>C, XM_006710801.4:c.1448T>C, XM_006710801.3:c.1448T>C, XM_006710801.2:c.1448T>C, XM_006710801.1:c.1448T>C, XM_011541873.3:c.1448T>C, XM_011541873.2:c.1448T>C, XM_011541873.1:c.1448T>C, XM_017001942.3:c.1418T>C, XM_017001942.2:c.1418T>C, XM_017001942.1:c.1418T>C, XM_017001945.2:c.1436T>C, XM_017001945.1:c.1436T>C, XM_017001944.2:c.1448T>C, XM_017001944.1:c.1448T>C, XM_017001946.2:c.1448T>C, XM_017001946.1:c.1448T>C, XM_047426475.1:c.1406T>C, XM_047426483.1:c.1406T>C, XM_047426486.1:c.1406T>C, XM_047426492.1:c.1448T>C, XM_047426501.1:c.1448T>C, XM_047426504.1:c.1448T>C, XM_047426493.1:c.1436T>C, XM_047426507.1:c.1436T>C, XM_047426512.1:c.1448T>C, XM_047426514.1:c.1436T>C, XM_047426519.1:c.1406T>C, NP_002831.2:p.Leu479Pro, NP_569707.2:p.Leu479Pro, NP_001316067.1:p.Leu489Pro, NP_001316066.1:p.Leu485Pro, NP_001316068.1:p.Leu479Pro, NP_001316069.1:p.Leu479Pro, XP_011540173.1:p.Leu483Pro, XP_011540174.1:p.Leu483Pro, XP_006710858.1:p.Leu483Pro, XP_005271136.1:p.Leu483Pro, XP_005271137.1:p.Leu479Pro, XP_006710859.1:p.Leu483Pro, XP_006710860.1:p.Leu483Pro, XP_005271138.1:p.Leu479Pro, XP_006710861.1:p.Leu483Pro, XP_006710862.1:p.Leu483Pro, XP_006710863.1:p.Leu483Pro, XP_005271139.1:p.Leu479Pro, XP_006710864.1:p.Leu483Pro, XP_011540175.1:p.Leu483Pro, XP_016857431.1:p.Leu473Pro, XP_016857434.1:p.Leu479Pro, XP_016857433.1:p.Leu483Pro, XP_016857435.1:p.Leu483Pro, XP_047282431.1:p.Leu469Pro, XP_047282439.1:p.Leu469Pro, XP_047282442.1:p.Leu469Pro, XP_047282448.1:p.Leu483Pro, XP_047282457.1:p.Leu483Pro, XP_047282460.1:p.Leu483Pro, XP_047282449.1:p.Leu479Pro, XP_047282463.1:p.Leu479Pro, XP_047282468.1:p.Leu483Pro, XP_047282470.1:p.Leu479Pro, XP_047282475.1:p.Leu469Pro

      3.

      rs1489613514 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>A [Show Flanks]
        Chromosome:
        1:43604977 (GRCh38)
        1:44070648 (GRCh37)
        Canonical SPDI:
        NC_000001.11:43604976:T:A
        Gene:
        PTPRF (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.43604977T>A, NC_000001.10:g.44070648T>A, NG_047072.1:g.87740T>A, NM_002840.5:c.3112T>A, NM_002840.4:c.3112T>A, NM_002840.3:c.3112T>A, NM_130440.4:c.3085T>A, NM_130440.3:c.3085T>A, NM_130440.2:c.3085T>A, NM_001329138.2:c.2257T>A, NM_001329138.1:c.2257T>A, NM_001329137.2:c.2245T>A, NM_001329137.1:c.2245T>A, NM_001329139.2:c.2227T>A, NM_001329139.1:c.2227T>A, NM_001329140.2:c.2200T>A, NM_001329140.1:c.2200T>A, XM_011541871.4:c.3124T>A, XM_011541871.3:c.3124T>A, XM_011541871.2:c.3124T>A, XM_011541871.1:c.3124T>A, XM_011541872.4:c.3124T>A, XM_011541872.3:c.3124T>A, XM_011541872.2:c.3124T>A, XM_011541872.1:c.3124T>A, XM_006710795.4:c.3124T>A, XM_006710795.3:c.3124T>A, XM_006710795.2:c.3124T>A, XM_006710795.1:c.3124T>A, XM_005271079.4:c.3124T>A, XM_005271079.3:c.3124T>A, XM_005271079.2:c.3124T>A, XM_005271079.1:c.3124T>A, XM_005271080.4:c.3112T>A, XM_005271080.3:c.3112T>A, XM_005271080.2:c.3112T>A, XM_005271080.1:c.3112T>A, XM_006710796.4:c.3097T>A, XM_006710796.3:c.3097T>A, XM_006710796.2:c.3097T>A, XM_006710796.1:c.3097T>A, XM_006710797.4:c.3124T>A, XM_006710797.3:c.3124T>A, XM_006710797.2:c.3124T>A, XM_006710797.1:c.3124T>A, XM_005271081.4:c.3085T>A, XM_005271081.3:c.3085T>A, XM_005271081.2:c.3085T>A, XM_005271081.1:c.3085T>A, XM_006710798.4:c.3097T>A, XM_006710798.3:c.3097T>A, XM_006710798.2:c.3097T>A, XM_006710798.1:c.3097T>A, XM_006710799.4:c.2818T>A, XM_006710799.3:c.2818T>A, XM_006710799.2:c.2818T>A, XM_006710799.1:c.2818T>A, XM_006710800.4:c.2791T>A, XM_006710800.3:c.2791T>A, XM_006710800.2:c.2791T>A, XM_006710800.1:c.2791T>A, XM_005271082.4:c.2779T>A, XM_005271082.3:c.2779T>A, XM_005271082.2:c.2779T>A, XM_005271082.1:c.2779T>A, XM_006710801.4:c.2545T>A, XM_006710801.3:c.2545T>A, XM_006710801.2:c.2545T>A, XM_006710801.1:c.2545T>A, XM_011541873.3:c.3124T>A, XM_011541873.2:c.3124T>A, XM_011541873.1:c.3124T>A, XM_017001942.3:c.3094T>A, XM_017001942.2:c.3094T>A, XM_017001942.1:c.3094T>A, XM_017001945.2:c.2779T>A, XM_017001945.1:c.2779T>A, XM_017001944.2:c.2791T>A, XM_017001944.1:c.2791T>A, XM_017001946.2:c.2239T>A, XM_017001946.1:c.2239T>A, XM_047426475.1:c.3082T>A, XM_047426483.1:c.3082T>A, XM_047426486.1:c.3055T>A, XM_047426492.1:c.2818T>A, XM_047426501.1:c.2518T>A, XM_047426504.1:c.2545T>A, XM_047426493.1:c.2806T>A, XM_047426507.1:c.2533T>A, XM_047426512.1:c.2518T>A, XM_047426514.1:c.2506T>A, XM_047426519.1:c.2503T>A, NP_002831.2:p.Tyr1038Asn, NP_569707.2:p.Tyr1029Asn, NP_001316067.1:p.Tyr753Asn, NP_001316066.1:p.Tyr749Asn, NP_001316068.1:p.Tyr743Asn, NP_001316069.1:p.Tyr734Asn, XP_011540173.1:p.Tyr1042Asn, XP_011540174.1:p.Tyr1042Asn, XP_006710858.1:p.Tyr1042Asn, XP_005271136.1:p.Tyr1042Asn, XP_005271137.1:p.Tyr1038Asn, XP_006710859.1:p.Tyr1033Asn, XP_006710860.1:p.Tyr1042Asn, XP_005271138.1:p.Tyr1029Asn, XP_006710861.1:p.Tyr1033Asn, XP_006710862.1:p.Tyr940Asn, XP_006710863.1:p.Tyr931Asn, XP_005271139.1:p.Tyr927Asn, XP_006710864.1:p.Tyr849Asn, XP_011540175.1:p.Tyr1042Asn, XP_016857431.1:p.Tyr1032Asn, XP_016857434.1:p.Tyr927Asn, XP_016857433.1:p.Tyr931Asn, XP_016857435.1:p.Tyr747Asn, XP_047282431.1:p.Tyr1028Asn, XP_047282439.1:p.Tyr1028Asn, XP_047282442.1:p.Tyr1019Asn, XP_047282448.1:p.Tyr940Asn, XP_047282457.1:p.Tyr840Asn, XP_047282460.1:p.Tyr849Asn, XP_047282449.1:p.Tyr936Asn, XP_047282463.1:p.Tyr845Asn, XP_047282468.1:p.Tyr840Asn, XP_047282470.1:p.Tyr836Asn, XP_047282475.1:p.Tyr835Asn

        4.

        rs1489062858 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          1:43620927 (GRCh38)
          1:44086598 (GRCh37)
          Canonical SPDI:
          NC_000001.11:43620926:C:T
          Gene:
          PTPRF (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000001.11:g.43620927C>T, NC_000001.10:g.44086598C>T, NG_047072.1:g.103690C>T, NM_002840.5:c.5454C>T, NM_002840.4:c.5454C>T, NM_002840.3:c.5454C>T, NM_130440.4:c.5427C>T, NM_130440.3:c.5427C>T, NM_130440.2:c.5427C>T, NM_001329138.2:c.4644C>T, NM_001329138.1:c.4644C>T, NM_001329137.2:c.4620C>T, NM_001329137.1:c.4620C>T, NM_001329139.2:c.4602C>T, NM_001329139.1:c.4602C>T, NM_001329140.2:c.4542C>T, NM_001329140.1:c.4542C>T, XM_011541871.4:c.5499C>T, XM_011541871.3:c.5499C>T, XM_011541871.2:c.5499C>T, XM_011541871.1:c.5499C>T, XM_011541872.4:c.5499C>T, XM_011541872.3:c.5499C>T, XM_011541872.2:c.5499C>T, XM_011541872.1:c.5499C>T, XM_006710795.4:c.5499C>T, XM_006710795.3:c.5499C>T, XM_006710795.2:c.5499C>T, XM_006710795.1:c.5499C>T, XM_005271079.4:c.5499C>T, XM_005271079.3:c.5499C>T, XM_005271079.2:c.5499C>T, XM_005271079.1:c.5499C>T, XM_005271080.4:c.5487C>T, XM_005271080.3:c.5487C>T, XM_005271080.2:c.5487C>T, XM_005271080.1:c.5487C>T, XM_006710796.4:c.5472C>T, XM_006710796.3:c.5472C>T, XM_006710796.2:c.5472C>T, XM_006710796.1:c.5472C>T, XM_006710797.4:c.5466C>T, XM_006710797.3:c.5466C>T, XM_006710797.2:c.5466C>T, XM_006710797.1:c.5466C>T, XM_005271081.4:c.5460C>T, XM_005271081.3:c.5460C>T, XM_005271081.2:c.5460C>T, XM_005271081.1:c.5460C>T, XM_006710798.4:c.5439C>T, XM_006710798.3:c.5439C>T, XM_006710798.2:c.5439C>T, XM_006710798.1:c.5439C>T, XM_006710799.4:c.5193C>T, XM_006710799.3:c.5193C>T, XM_006710799.2:c.5193C>T, XM_006710799.1:c.5193C>T, XM_006710800.4:c.5166C>T, XM_006710800.3:c.5166C>T, XM_006710800.2:c.5166C>T, XM_006710800.1:c.5166C>T, XM_005271082.4:c.5121C>T, XM_005271082.3:c.5121C>T, XM_005271082.2:c.5121C>T, XM_005271082.1:c.5121C>T, XM_006710801.4:c.4920C>T, XM_006710801.3:c.4920C>T, XM_006710801.2:c.4920C>T, XM_006710801.1:c.4920C>T, XM_011541873.3:c.5499C>T, XM_011541873.2:c.5499C>T, XM_011541873.1:c.5499C>T, XM_017001942.3:c.5469C>T, XM_017001942.2:c.5469C>T, XM_017001942.1:c.5469C>T, XM_017001945.2:c.5154C>T, XM_017001945.1:c.5154C>T, XM_017001944.2:c.5133C>T, XM_017001944.1:c.5133C>T, XM_017001946.2:c.4614C>T, XM_017001946.1:c.4614C>T, XM_047426475.1:c.5457C>T, XM_047426483.1:c.5424C>T, XM_047426486.1:c.5397C>T, XM_047426492.1:c.5160C>T, XM_047426501.1:c.4893C>T, XM_047426504.1:c.4887C>T, XM_047426493.1:c.5181C>T, XM_047426507.1:c.4875C>T, XM_047426512.1:c.4860C>T, XM_047426514.1:c.4848C>T, XM_047426519.1:c.4845C>T

          5.

          rs1487864307 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            1:43598907 (GRCh38)
            1:44064578 (GRCh37)
            Canonical SPDI:
            NC_000001.11:43598906:G:A
            Gene:
            PTPRF (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            A=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000001.11:g.43598907G>A, NC_000001.10:g.44064578G>A, NG_047072.1:g.81670G>A, NM_002840.5:c.2307G>A, NM_002840.4:c.2307G>A, NM_002840.3:c.2307G>A, NM_130440.4:c.2307G>A, NM_130440.3:c.2307G>A, NM_130440.2:c.2307G>A, NM_001329138.2:c.2031G>A, NM_001329138.1:c.2031G>A, NM_001329137.2:c.2019G>A, NM_001329137.1:c.2019G>A, NM_001329139.2:c.2001G>A, NM_001329139.1:c.2001G>A, NM_001329140.2:c.2001G>A, NM_001329140.1:c.2001G>A, XM_011541871.4:c.2319G>A, XM_011541871.3:c.2319G>A, XM_011541871.2:c.2319G>A, XM_011541871.1:c.2319G>A, XM_011541872.4:c.2319G>A, XM_011541872.3:c.2319G>A, XM_011541872.2:c.2319G>A, XM_011541872.1:c.2319G>A, XM_006710795.4:c.2319G>A, XM_006710795.3:c.2319G>A, XM_006710795.2:c.2319G>A, XM_006710795.1:c.2319G>A, XM_005271079.4:c.2319G>A, XM_005271079.3:c.2319G>A, XM_005271079.2:c.2319G>A, XM_005271079.1:c.2319G>A, XM_005271080.4:c.2307G>A, XM_005271080.3:c.2307G>A, XM_005271080.2:c.2307G>A, XM_005271080.1:c.2307G>A, XM_006710796.4:c.2319G>A, XM_006710796.3:c.2319G>A, XM_006710796.2:c.2319G>A, XM_006710796.1:c.2319G>A, XM_006710797.4:c.2319G>A, XM_006710797.3:c.2319G>A, XM_006710797.2:c.2319G>A, XM_006710797.1:c.2319G>A, XM_005271081.4:c.2307G>A, XM_005271081.3:c.2307G>A, XM_005271081.2:c.2307G>A, XM_005271081.1:c.2307G>A, XM_006710798.4:c.2319G>A, XM_006710798.3:c.2319G>A, XM_006710798.2:c.2319G>A, XM_006710798.1:c.2319G>A, XM_006710799.4:c.2013G>A, XM_006710799.3:c.2013G>A, XM_006710799.2:c.2013G>A, XM_006710799.1:c.2013G>A, XM_006710800.4:c.2013G>A, XM_006710800.3:c.2013G>A, XM_006710800.2:c.2013G>A, XM_006710800.1:c.2013G>A, XM_005271082.4:c.2001G>A, XM_005271082.3:c.2001G>A, XM_005271082.2:c.2001G>A, XM_005271082.1:c.2001G>A, XM_006710801.4:c.2319G>A, XM_006710801.3:c.2319G>A, XM_006710801.2:c.2319G>A, XM_006710801.1:c.2319G>A, XM_011541873.3:c.2319G>A, XM_011541873.2:c.2319G>A, XM_011541873.1:c.2319G>A, XM_017001942.3:c.2289G>A, XM_017001942.2:c.2289G>A, XM_017001942.1:c.2289G>A, XM_017001945.2:c.2001G>A, XM_017001945.1:c.2001G>A, XM_017001944.2:c.2013G>A, XM_017001944.1:c.2013G>A, XM_017001946.2:c.2013G>A, XM_017001946.1:c.2013G>A, XM_047426475.1:c.2277G>A, XM_047426483.1:c.2277G>A, XM_047426486.1:c.2277G>A, XM_047426492.1:c.2013G>A, XM_047426501.1:c.2319G>A, XM_047426504.1:c.2319G>A, XM_047426493.1:c.2001G>A, XM_047426507.1:c.2307G>A, XM_047426512.1:c.2319G>A, XM_047426514.1:c.2307G>A, XM_047426519.1:c.2277G>A

            6.

            rs1485163447 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              1:43613670 (GRCh38)
              1:44079341 (GRCh37)
              Canonical SPDI:
              NC_000001.11:43613669:G:A
              Gene:
              PTPRF (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              A=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000001.11:g.43613670G>A, NC_000001.10:g.44079341G>A, NG_047072.1:g.96433G>A, NM_002840.5:c.4026G>A, NM_002840.4:c.4026G>A, NM_002840.3:c.4026G>A, NM_130440.4:c.3999G>A, NM_130440.3:c.3999G>A, NM_130440.2:c.3999G>A, NM_001329138.2:c.3216G>A, NM_001329138.1:c.3216G>A, NM_001329137.2:c.3192G>A, NM_001329137.1:c.3192G>A, NM_001329139.2:c.3174G>A, NM_001329139.1:c.3174G>A, NM_001329140.2:c.3114G>A, NM_001329140.1:c.3114G>A, XM_011541871.4:c.4071G>A, XM_011541871.3:c.4071G>A, XM_011541871.2:c.4071G>A, XM_011541871.1:c.4071G>A, XM_011541872.4:c.4071G>A, XM_011541872.3:c.4071G>A, XM_011541872.2:c.4071G>A, XM_011541872.1:c.4071G>A, XM_006710795.4:c.4071G>A, XM_006710795.3:c.4071G>A, XM_006710795.2:c.4071G>A, XM_006710795.1:c.4071G>A, XM_005271079.4:c.4071G>A, XM_005271079.3:c.4071G>A, XM_005271079.2:c.4071G>A, XM_005271079.1:c.4071G>A, XM_005271080.4:c.4059G>A, XM_005271080.3:c.4059G>A, XM_005271080.2:c.4059G>A, XM_005271080.1:c.4059G>A, XM_006710796.4:c.4044G>A, XM_006710796.3:c.4044G>A, XM_006710796.2:c.4044G>A, XM_006710796.1:c.4044G>A, XM_006710797.4:c.4038G>A, XM_006710797.3:c.4038G>A, XM_006710797.2:c.4038G>A, XM_006710797.1:c.4038G>A, XM_005271081.4:c.4032G>A, XM_005271081.3:c.4032G>A, XM_005271081.2:c.4032G>A, XM_005271081.1:c.4032G>A, XM_006710798.4:c.4011G>A, XM_006710798.3:c.4011G>A, XM_006710798.2:c.4011G>A, XM_006710798.1:c.4011G>A, XM_006710799.4:c.3765G>A, XM_006710799.3:c.3765G>A, XM_006710799.2:c.3765G>A, XM_006710799.1:c.3765G>A, XM_006710800.4:c.3738G>A, XM_006710800.3:c.3738G>A, XM_006710800.2:c.3738G>A, XM_006710800.1:c.3738G>A, XM_005271082.4:c.3693G>A, XM_005271082.3:c.3693G>A, XM_005271082.2:c.3693G>A, XM_005271082.1:c.3693G>A, XM_006710801.4:c.3492G>A, XM_006710801.3:c.3492G>A, XM_006710801.2:c.3492G>A, XM_006710801.1:c.3492G>A, XM_011541873.3:c.4071G>A, XM_011541873.2:c.4071G>A, XM_011541873.1:c.4071G>A, XM_017001942.3:c.4041G>A, XM_017001942.2:c.4041G>A, XM_017001942.1:c.4041G>A, XM_017001945.2:c.3726G>A, XM_017001945.1:c.3726G>A, XM_017001944.2:c.3705G>A, XM_017001944.1:c.3705G>A, XM_017001946.2:c.3186G>A, XM_017001946.1:c.3186G>A, XM_047426475.1:c.4029G>A, XM_047426483.1:c.3996G>A, XM_047426486.1:c.3969G>A, XM_047426492.1:c.3732G>A, XM_047426501.1:c.3465G>A, XM_047426504.1:c.3459G>A, XM_047426493.1:c.3753G>A, XM_047426507.1:c.3447G>A, XM_047426512.1:c.3432G>A, XM_047426514.1:c.3420G>A, XM_047426519.1:c.3417G>A

              7.

              rs1484052835 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                1:43609478 (GRCh38)
                1:44075149 (GRCh37)
                Canonical SPDI:
                NC_000001.11:43609477:G:A
                Gene:
                PTPRF (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                HGVS:
                NC_000001.11:g.43609478G>A, NC_000001.10:g.44075149G>A, NG_047072.1:g.92241G>A, NM_002840.5:c.3953G>A, NM_002840.4:c.3953G>A, NM_002840.3:c.3953G>A, NM_130440.4:c.3926G>A, NM_130440.3:c.3926G>A, NM_130440.2:c.3926G>A, NM_001329138.2:c.3110G>A, NM_001329138.1:c.3110G>A, NM_001329137.2:c.3086G>A, NM_001329137.1:c.3086G>A, NM_001329139.2:c.3068G>A, NM_001329139.1:c.3068G>A, NM_001329140.2:c.3041G>A, NM_001329140.1:c.3041G>A, XM_011541871.4:c.3965G>A, XM_011541871.3:c.3965G>A, XM_011541871.2:c.3965G>A, XM_011541871.1:c.3965G>A, XM_011541872.4:c.3965G>A, XM_011541872.3:c.3965G>A, XM_011541872.2:c.3965G>A, XM_011541872.1:c.3965G>A, XM_006710795.4:c.3965G>A, XM_006710795.3:c.3965G>A, XM_006710795.2:c.3965G>A, XM_006710795.1:c.3965G>A, XM_005271079.4:c.3965G>A, XM_005271079.3:c.3965G>A, XM_005271079.2:c.3965G>A, XM_005271079.1:c.3965G>A, XM_005271080.4:c.3953G>A, XM_005271080.3:c.3953G>A, XM_005271080.2:c.3953G>A, XM_005271080.1:c.3953G>A, XM_006710796.4:c.3938G>A, XM_006710796.3:c.3938G>A, XM_006710796.2:c.3938G>A, XM_006710796.1:c.3938G>A, XM_006710797.4:c.3965G>A, XM_006710797.3:c.3965G>A, XM_006710797.2:c.3965G>A, XM_006710797.1:c.3965G>A, XM_005271081.4:c.3926G>A, XM_005271081.3:c.3926G>A, XM_005271081.2:c.3926G>A, XM_005271081.1:c.3926G>A, XM_006710798.4:c.3938G>A, XM_006710798.3:c.3938G>A, XM_006710798.2:c.3938G>A, XM_006710798.1:c.3938G>A, XM_006710799.4:c.3659G>A, XM_006710799.3:c.3659G>A, XM_006710799.2:c.3659G>A, XM_006710799.1:c.3659G>A, XM_006710800.4:c.3632G>A, XM_006710800.3:c.3632G>A, XM_006710800.2:c.3632G>A, XM_006710800.1:c.3632G>A, XM_005271082.4:c.3620G>A, XM_005271082.3:c.3620G>A, XM_005271082.2:c.3620G>A, XM_005271082.1:c.3620G>A, XM_006710801.4:c.3386G>A, XM_006710801.3:c.3386G>A, XM_006710801.2:c.3386G>A, XM_006710801.1:c.3386G>A, XM_011541873.3:c.3965G>A, XM_011541873.2:c.3965G>A, XM_011541873.1:c.3965G>A, XM_017001942.3:c.3935G>A, XM_017001942.2:c.3935G>A, XM_017001942.1:c.3935G>A, XM_017001945.2:c.3620G>A, XM_017001945.1:c.3620G>A, XM_017001944.2:c.3632G>A, XM_017001944.1:c.3632G>A, XM_017001946.2:c.3080G>A, XM_017001946.1:c.3080G>A, XM_047426475.1:c.3923G>A, XM_047426483.1:c.3923G>A, XM_047426486.1:c.3896G>A, XM_047426492.1:c.3659G>A, XM_047426501.1:c.3359G>A, XM_047426504.1:c.3386G>A, XM_047426493.1:c.3647G>A, XM_047426507.1:c.3374G>A, XM_047426512.1:c.3359G>A, XM_047426514.1:c.3347G>A, XM_047426519.1:c.3344G>A, NP_002831.2:p.Arg1318Lys, NP_569707.2:p.Arg1309Lys, NP_001316067.1:p.Arg1037Lys, NP_001316066.1:p.Arg1029Lys, NP_001316068.1:p.Arg1023Lys, NP_001316069.1:p.Arg1014Lys, XP_011540173.1:p.Arg1322Lys, XP_011540174.1:p.Arg1322Lys, XP_006710858.1:p.Arg1322Lys, XP_005271136.1:p.Arg1322Lys, XP_005271137.1:p.Arg1318Lys, XP_006710859.1:p.Arg1313Lys, XP_006710860.1:p.Arg1322Lys, XP_005271138.1:p.Arg1309Lys, XP_006710861.1:p.Arg1313Lys, XP_006710862.1:p.Arg1220Lys, XP_006710863.1:p.Arg1211Lys, XP_005271139.1:p.Arg1207Lys, XP_006710864.1:p.Arg1129Lys, XP_011540175.1:p.Arg1322Lys, XP_016857431.1:p.Arg1312Lys, XP_016857434.1:p.Arg1207Lys, XP_016857433.1:p.Arg1211Lys, XP_016857435.1:p.Arg1027Lys, XP_047282431.1:p.Arg1308Lys, XP_047282439.1:p.Arg1308Lys, XP_047282442.1:p.Arg1299Lys, XP_047282448.1:p.Arg1220Lys, XP_047282457.1:p.Arg1120Lys, XP_047282460.1:p.Arg1129Lys, XP_047282449.1:p.Arg1216Lys, XP_047282463.1:p.Arg1125Lys, XP_047282468.1:p.Arg1120Lys, XP_047282470.1:p.Arg1116Lys, XP_047282475.1:p.Arg1115Lys

                8.

                rs1483547386 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  1:43591857 (GRCh38)
                  1:44057528 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:43591856:C:G
                  Gene:
                  PTPRF (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000008/2 (TOPMED)
                  G=0.000014/2 (GnomAD)
                  HGVS:
                  NC_000001.11:g.43591857C>G, NC_000001.10:g.44057528C>G, NG_047072.1:g.74620C>G, NM_002840.5:c.1577C>G, NM_002840.4:c.1577C>G, NM_002840.3:c.1577C>G, NM_130440.4:c.1577C>G, NM_130440.3:c.1577C>G, NM_130440.2:c.1577C>G, NM_001329138.2:c.1607C>G, NM_001329138.1:c.1607C>G, NM_001329137.2:c.1595C>G, NM_001329137.1:c.1595C>G, NM_001329139.2:c.1577C>G, NM_001329139.1:c.1577C>G, NM_001329140.2:c.1577C>G, NM_001329140.1:c.1577C>G, XM_011541871.4:c.1589C>G, XM_011541871.3:c.1589C>G, XM_011541871.2:c.1589C>G, XM_011541871.1:c.1589C>G, XM_011541872.4:c.1589C>G, XM_011541872.3:c.1589C>G, XM_011541872.2:c.1589C>G, XM_011541872.1:c.1589C>G, XM_006710795.4:c.1589C>G, XM_006710795.3:c.1589C>G, XM_006710795.2:c.1589C>G, XM_006710795.1:c.1589C>G, XM_005271079.4:c.1589C>G, XM_005271079.3:c.1589C>G, XM_005271079.2:c.1589C>G, XM_005271079.1:c.1589C>G, XM_005271080.4:c.1577C>G, XM_005271080.3:c.1577C>G, XM_005271080.2:c.1577C>G, XM_005271080.1:c.1577C>G, XM_006710796.4:c.1589C>G, XM_006710796.3:c.1589C>G, XM_006710796.2:c.1589C>G, XM_006710796.1:c.1589C>G, XM_006710797.4:c.1589C>G, XM_006710797.3:c.1589C>G, XM_006710797.2:c.1589C>G, XM_006710797.1:c.1589C>G, XM_005271081.4:c.1577C>G, XM_005271081.3:c.1577C>G, XM_005271081.2:c.1577C>G, XM_005271081.1:c.1577C>G, XM_006710798.4:c.1589C>G, XM_006710798.3:c.1589C>G, XM_006710798.2:c.1589C>G, XM_006710798.1:c.1589C>G, XM_006710799.4:c.1589C>G, XM_006710799.3:c.1589C>G, XM_006710799.2:c.1589C>G, XM_006710799.1:c.1589C>G, XM_006710800.4:c.1589C>G, XM_006710800.3:c.1589C>G, XM_006710800.2:c.1589C>G, XM_006710800.1:c.1589C>G, XM_005271082.4:c.1577C>G, XM_005271082.3:c.1577C>G, XM_005271082.2:c.1577C>G, XM_005271082.1:c.1577C>G, XM_006710801.4:c.1589C>G, XM_006710801.3:c.1589C>G, XM_006710801.2:c.1589C>G, XM_006710801.1:c.1589C>G, XM_011541873.3:c.1589C>G, XM_011541873.2:c.1589C>G, XM_011541873.1:c.1589C>G, XM_017001942.3:c.1559C>G, XM_017001942.2:c.1559C>G, XM_017001942.1:c.1559C>G, XM_017001945.2:c.1577C>G, XM_017001945.1:c.1577C>G, XM_017001944.2:c.1589C>G, XM_017001944.1:c.1589C>G, XM_017001946.2:c.1589C>G, XM_017001946.1:c.1589C>G, XM_047426475.1:c.1547C>G, XM_047426483.1:c.1547C>G, XM_047426486.1:c.1547C>G, XM_047426492.1:c.1589C>G, XM_047426501.1:c.1589C>G, XM_047426504.1:c.1589C>G, XM_047426493.1:c.1577C>G, XM_047426507.1:c.1577C>G, XM_047426512.1:c.1589C>G, XM_047426514.1:c.1577C>G, XM_047426519.1:c.1547C>G, NP_002831.2:p.Thr526Ser, NP_569707.2:p.Thr526Ser, NP_001316067.1:p.Thr536Ser, NP_001316066.1:p.Thr532Ser, NP_001316068.1:p.Thr526Ser, NP_001316069.1:p.Thr526Ser, XP_011540173.1:p.Thr530Ser, XP_011540174.1:p.Thr530Ser, XP_006710858.1:p.Thr530Ser, XP_005271136.1:p.Thr530Ser, XP_005271137.1:p.Thr526Ser, XP_006710859.1:p.Thr530Ser, XP_006710860.1:p.Thr530Ser, XP_005271138.1:p.Thr526Ser, XP_006710861.1:p.Thr530Ser, XP_006710862.1:p.Thr530Ser, XP_006710863.1:p.Thr530Ser, XP_005271139.1:p.Thr526Ser, XP_006710864.1:p.Thr530Ser, XP_011540175.1:p.Thr530Ser, XP_016857431.1:p.Thr520Ser, XP_016857434.1:p.Thr526Ser, XP_016857433.1:p.Thr530Ser, XP_016857435.1:p.Thr530Ser, XP_047282431.1:p.Thr516Ser, XP_047282439.1:p.Thr516Ser, XP_047282442.1:p.Thr516Ser, XP_047282448.1:p.Thr530Ser, XP_047282457.1:p.Thr530Ser, XP_047282460.1:p.Thr530Ser, XP_047282449.1:p.Thr526Ser, XP_047282463.1:p.Thr526Ser, XP_047282468.1:p.Thr530Ser, XP_047282470.1:p.Thr526Ser, XP_047282475.1:p.Thr516Ser

                  9.

                  rs1480297066 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>T [Show Flanks]
                    Chromosome:
                    1:43617770 (GRCh38)
                    1:44083441 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:43617769:C:T
                    Gene:
                    PTPRF (Varview)
                    Functional Consequence:
                    coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000004/1 (GnomAD_exomes)
                    T=0.000007/1 (GnomAD)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.43617770C>T, NC_000001.10:g.44083441C>T, NG_047072.1:g.100533C>T, NM_002840.5:c.4230C>T, NM_002840.4:c.4230C>T, NM_002840.3:c.4230C>T, NM_130440.4:c.4203C>T, NM_130440.3:c.4203C>T, NM_130440.2:c.4203C>T, NM_001329138.2:c.3420C>T, NM_001329138.1:c.3420C>T, NM_001329137.2:c.3396C>T, NM_001329137.1:c.3396C>T, NM_001329139.2:c.3378C>T, NM_001329139.1:c.3378C>T, NM_001329140.2:c.3318C>T, NM_001329140.1:c.3318C>T, XM_011541871.4:c.4275C>T, XM_011541871.3:c.4275C>T, XM_011541871.2:c.4275C>T, XM_011541871.1:c.4275C>T, XM_011541872.4:c.4275C>T, XM_011541872.3:c.4275C>T, XM_011541872.2:c.4275C>T, XM_011541872.1:c.4275C>T, XM_006710795.4:c.4275C>T, XM_006710795.3:c.4275C>T, XM_006710795.2:c.4275C>T, XM_006710795.1:c.4275C>T, XM_005271079.4:c.4275C>T, XM_005271079.3:c.4275C>T, XM_005271079.2:c.4275C>T, XM_005271079.1:c.4275C>T, XM_005271080.4:c.4263C>T, XM_005271080.3:c.4263C>T, XM_005271080.2:c.4263C>T, XM_005271080.1:c.4263C>T, XM_006710796.4:c.4248C>T, XM_006710796.3:c.4248C>T, XM_006710796.2:c.4248C>T, XM_006710796.1:c.4248C>T, XM_006710797.4:c.4242C>T, XM_006710797.3:c.4242C>T, XM_006710797.2:c.4242C>T, XM_006710797.1:c.4242C>T, XM_005271081.4:c.4236C>T, XM_005271081.3:c.4236C>T, XM_005271081.2:c.4236C>T, XM_005271081.1:c.4236C>T, XM_006710798.4:c.4215C>T, XM_006710798.3:c.4215C>T, XM_006710798.2:c.4215C>T, XM_006710798.1:c.4215C>T, XM_006710799.4:c.3969C>T, XM_006710799.3:c.3969C>T, XM_006710799.2:c.3969C>T, XM_006710799.1:c.3969C>T, XM_006710800.4:c.3942C>T, XM_006710800.3:c.3942C>T, XM_006710800.2:c.3942C>T, XM_006710800.1:c.3942C>T, XM_005271082.4:c.3897C>T, XM_005271082.3:c.3897C>T, XM_005271082.2:c.3897C>T, XM_005271082.1:c.3897C>T, XM_006710801.4:c.3696C>T, XM_006710801.3:c.3696C>T, XM_006710801.2:c.3696C>T, XM_006710801.1:c.3696C>T, XM_011541873.3:c.4275C>T, XM_011541873.2:c.4275C>T, XM_011541873.1:c.4275C>T, XM_017001942.3:c.4245C>T, XM_017001942.2:c.4245C>T, XM_017001942.1:c.4245C>T, XM_017001945.2:c.3930C>T, XM_017001945.1:c.3930C>T, XM_017001944.2:c.3909C>T, XM_017001944.1:c.3909C>T, XM_017001946.2:c.3390C>T, XM_017001946.1:c.3390C>T, XM_047426475.1:c.4233C>T, XM_047426483.1:c.4200C>T, XM_047426486.1:c.4173C>T, XM_047426492.1:c.3936C>T, XM_047426501.1:c.3669C>T, XM_047426504.1:c.3663C>T, XM_047426493.1:c.3957C>T, XM_047426507.1:c.3651C>T, XM_047426512.1:c.3636C>T, XM_047426514.1:c.3624C>T, XM_047426519.1:c.3621C>T

                    10.

                    rs1479762337 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      1:43605232 (GRCh38)
                      1:44070903 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:43605231:A:G
                      Gene:
                      PTPRF (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Validated:
                      by frequency
                      MAF:
                      G=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.43605232A>G, NC_000001.10:g.44070903A>G, NG_047072.1:g.87995A>G, NM_002840.5:c.3178A>G, NM_002840.4:c.3178A>G, NM_002840.3:c.3178A>G, NM_130440.4:c.3151A>G, NM_130440.3:c.3151A>G, NM_130440.2:c.3151A>G, NM_001329138.2:c.2323A>G, NM_001329138.1:c.2323A>G, NM_001329137.2:c.2311A>G, NM_001329137.1:c.2311A>G, NM_001329139.2:c.2293A>G, NM_001329139.1:c.2293A>G, NM_001329140.2:c.2266A>G, NM_001329140.1:c.2266A>G, XM_011541871.4:c.3190A>G, XM_011541871.3:c.3190A>G, XM_011541871.2:c.3190A>G, XM_011541871.1:c.3190A>G, XM_011541872.4:c.3190A>G, XM_011541872.3:c.3190A>G, XM_011541872.2:c.3190A>G, XM_011541872.1:c.3190A>G, XM_006710795.4:c.3190A>G, XM_006710795.3:c.3190A>G, XM_006710795.2:c.3190A>G, XM_006710795.1:c.3190A>G, XM_005271079.4:c.3190A>G, XM_005271079.3:c.3190A>G, XM_005271079.2:c.3190A>G, XM_005271079.1:c.3190A>G, XM_005271080.4:c.3178A>G, XM_005271080.3:c.3178A>G, XM_005271080.2:c.3178A>G, XM_005271080.1:c.3178A>G, XM_006710796.4:c.3163A>G, XM_006710796.3:c.3163A>G, XM_006710796.2:c.3163A>G, XM_006710796.1:c.3163A>G, XM_006710797.4:c.3190A>G, XM_006710797.3:c.3190A>G, XM_006710797.2:c.3190A>G, XM_006710797.1:c.3190A>G, XM_005271081.4:c.3151A>G, XM_005271081.3:c.3151A>G, XM_005271081.2:c.3151A>G, XM_005271081.1:c.3151A>G, XM_006710798.4:c.3163A>G, XM_006710798.3:c.3163A>G, XM_006710798.2:c.3163A>G, XM_006710798.1:c.3163A>G, XM_006710799.4:c.2884A>G, XM_006710799.3:c.2884A>G, XM_006710799.2:c.2884A>G, XM_006710799.1:c.2884A>G, XM_006710800.4:c.2857A>G, XM_006710800.3:c.2857A>G, XM_006710800.2:c.2857A>G, XM_006710800.1:c.2857A>G, XM_005271082.4:c.2845A>G, XM_005271082.3:c.2845A>G, XM_005271082.2:c.2845A>G, XM_005271082.1:c.2845A>G, XM_006710801.4:c.2611A>G, XM_006710801.3:c.2611A>G, XM_006710801.2:c.2611A>G, XM_006710801.1:c.2611A>G, XM_011541873.3:c.3190A>G, XM_011541873.2:c.3190A>G, XM_011541873.1:c.3190A>G, XM_017001942.3:c.3160A>G, XM_017001942.2:c.3160A>G, XM_017001942.1:c.3160A>G, XM_017001945.2:c.2845A>G, XM_017001945.1:c.2845A>G, XM_017001944.2:c.2857A>G, XM_017001944.1:c.2857A>G, XM_017001946.2:c.2305A>G, XM_017001946.1:c.2305A>G, XM_047426475.1:c.3148A>G, XM_047426483.1:c.3148A>G, XM_047426486.1:c.3121A>G, XM_047426492.1:c.2884A>G, XM_047426501.1:c.2584A>G, XM_047426504.1:c.2611A>G, XM_047426493.1:c.2872A>G, XM_047426507.1:c.2599A>G, XM_047426512.1:c.2584A>G, XM_047426514.1:c.2572A>G, XM_047426519.1:c.2569A>G, NP_002831.2:p.Met1060Val, NP_569707.2:p.Met1051Val, NP_001316067.1:p.Met775Val, NP_001316066.1:p.Met771Val, NP_001316068.1:p.Met765Val, NP_001316069.1:p.Met756Val, XP_011540173.1:p.Met1064Val, XP_011540174.1:p.Met1064Val, XP_006710858.1:p.Met1064Val, XP_005271136.1:p.Met1064Val, XP_005271137.1:p.Met1060Val, XP_006710859.1:p.Met1055Val, XP_006710860.1:p.Met1064Val, XP_005271138.1:p.Met1051Val, XP_006710861.1:p.Met1055Val, XP_006710862.1:p.Met962Val, XP_006710863.1:p.Met953Val, XP_005271139.1:p.Met949Val, XP_006710864.1:p.Met871Val, XP_011540175.1:p.Met1064Val, XP_016857431.1:p.Met1054Val, XP_016857434.1:p.Met949Val, XP_016857433.1:p.Met953Val, XP_016857435.1:p.Met769Val, XP_047282431.1:p.Met1050Val, XP_047282439.1:p.Met1050Val, XP_047282442.1:p.Met1041Val, XP_047282448.1:p.Met962Val, XP_047282457.1:p.Met862Val, XP_047282460.1:p.Met871Val, XP_047282449.1:p.Met958Val, XP_047282463.1:p.Met867Val, XP_047282468.1:p.Met862Val, XP_047282470.1:p.Met858Val, XP_047282475.1:p.Met857Val

                      11.

                      rs1479176471 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>G,T [Show Flanks]
                        Chromosome:
                        1:43604920 (GRCh38)
                        1:44070591 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:43604919:C:G,NC_000001.11:43604919:C:T
                        Gene:
                        PTPRF (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0.000028/1 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        G=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.43604920C>G, NC_000001.11:g.43604920C>T, NC_000001.10:g.44070591C>G, NC_000001.10:g.44070591C>T, NG_047072.1:g.87683C>G, NG_047072.1:g.87683C>T, NM_002840.5:c.3055C>G, NM_002840.5:c.3055C>T, NM_002840.4:c.3055C>G, NM_002840.4:c.3055C>T, NM_002840.3:c.3055C>G, NM_002840.3:c.3055C>T, NM_130440.4:c.3028C>G, NM_130440.4:c.3028C>T, NM_130440.3:c.3028C>G, NM_130440.3:c.3028C>T, NM_130440.2:c.3028C>G, NM_130440.2:c.3028C>T, NM_001329138.2:c.2200C>G, NM_001329138.2:c.2200C>T, NM_001329138.1:c.2200C>G, NM_001329138.1:c.2200C>T, NM_001329137.2:c.2188C>G, NM_001329137.2:c.2188C>T, NM_001329137.1:c.2188C>G, NM_001329137.1:c.2188C>T, NM_001329139.2:c.2170C>G, NM_001329139.2:c.2170C>T, NM_001329139.1:c.2170C>G, NM_001329139.1:c.2170C>T, NM_001329140.2:c.2143C>G, NM_001329140.2:c.2143C>T, NM_001329140.1:c.2143C>G, NM_001329140.1:c.2143C>T, XM_011541871.4:c.3067C>G, XM_011541871.4:c.3067C>T, XM_011541871.3:c.3067C>G, XM_011541871.3:c.3067C>T, XM_011541871.2:c.3067C>G, XM_011541871.2:c.3067C>T, XM_011541871.1:c.3067C>G, XM_011541871.1:c.3067C>T, XM_011541872.4:c.3067C>G, XM_011541872.4:c.3067C>T, XM_011541872.3:c.3067C>G, XM_011541872.3:c.3067C>T, XM_011541872.2:c.3067C>G, XM_011541872.2:c.3067C>T, XM_011541872.1:c.3067C>G, XM_011541872.1:c.3067C>T, XM_006710795.4:c.3067C>G, XM_006710795.4:c.3067C>T, XM_006710795.3:c.3067C>G, XM_006710795.3:c.3067C>T, XM_006710795.2:c.3067C>G, XM_006710795.2:c.3067C>T, XM_006710795.1:c.3067C>G, XM_006710795.1:c.3067C>T, XM_005271079.4:c.3067C>G, XM_005271079.4:c.3067C>T, XM_005271079.3:c.3067C>G, XM_005271079.3:c.3067C>T, XM_005271079.2:c.3067C>G, XM_005271079.2:c.3067C>T, XM_005271079.1:c.3067C>G, XM_005271079.1:c.3067C>T, XM_005271080.4:c.3055C>G, XM_005271080.4:c.3055C>T, XM_005271080.3:c.3055C>G, XM_005271080.3:c.3055C>T, XM_005271080.2:c.3055C>G, XM_005271080.2:c.3055C>T, XM_005271080.1:c.3055C>G, XM_005271080.1:c.3055C>T, XM_006710796.4:c.3040C>G, XM_006710796.4:c.3040C>T, XM_006710796.3:c.3040C>G, XM_006710796.3:c.3040C>T, XM_006710796.2:c.3040C>G, XM_006710796.2:c.3040C>T, XM_006710796.1:c.3040C>G, XM_006710796.1:c.3040C>T, XM_006710797.4:c.3067C>G, XM_006710797.4:c.3067C>T, XM_006710797.3:c.3067C>G, XM_006710797.3:c.3067C>T, XM_006710797.2:c.3067C>G, XM_006710797.2:c.3067C>T, XM_006710797.1:c.3067C>G, XM_006710797.1:c.3067C>T, XM_005271081.4:c.3028C>G, XM_005271081.4:c.3028C>T, XM_005271081.3:c.3028C>G, XM_005271081.3:c.3028C>T, XM_005271081.2:c.3028C>G, XM_005271081.2:c.3028C>T, XM_005271081.1:c.3028C>G, XM_005271081.1:c.3028C>T, XM_006710798.4:c.3040C>G, XM_006710798.4:c.3040C>T, XM_006710798.3:c.3040C>G, XM_006710798.3:c.3040C>T, XM_006710798.2:c.3040C>G, XM_006710798.2:c.3040C>T, XM_006710798.1:c.3040C>G, XM_006710798.1:c.3040C>T, XM_006710799.4:c.2761C>G, XM_006710799.4:c.2761C>T, XM_006710799.3:c.2761C>G, XM_006710799.3:c.2761C>T, XM_006710799.2:c.2761C>G, XM_006710799.2:c.2761C>T, XM_006710799.1:c.2761C>G, XM_006710799.1:c.2761C>T, XM_006710800.4:c.2734C>G, XM_006710800.4:c.2734C>T, XM_006710800.3:c.2734C>G, XM_006710800.3:c.2734C>T, XM_006710800.2:c.2734C>G, XM_006710800.2:c.2734C>T, XM_006710800.1:c.2734C>G, XM_006710800.1:c.2734C>T, XM_005271082.4:c.2722C>G, XM_005271082.4:c.2722C>T, XM_005271082.3:c.2722C>G, XM_005271082.3:c.2722C>T, XM_005271082.2:c.2722C>G, XM_005271082.2:c.2722C>T, XM_005271082.1:c.2722C>G, XM_005271082.1:c.2722C>T, XM_006710801.4:c.2488C>G, XM_006710801.4:c.2488C>T, XM_006710801.3:c.2488C>G, XM_006710801.3:c.2488C>T, XM_006710801.2:c.2488C>G, XM_006710801.2:c.2488C>T, XM_006710801.1:c.2488C>G, XM_006710801.1:c.2488C>T, XM_011541873.3:c.3067C>G, XM_011541873.3:c.3067C>T, XM_011541873.2:c.3067C>G, XM_011541873.2:c.3067C>T, XM_011541873.1:c.3067C>G, XM_011541873.1:c.3067C>T, XM_017001942.3:c.3037C>G, XM_017001942.3:c.3037C>T, XM_017001942.2:c.3037C>G, XM_017001942.2:c.3037C>T, XM_017001942.1:c.3037C>G, XM_017001942.1:c.3037C>T, XM_017001945.2:c.2722C>G, XM_017001945.2:c.2722C>T, XM_017001945.1:c.2722C>G, XM_017001945.1:c.2722C>T, XM_017001944.2:c.2734C>G, XM_017001944.2:c.2734C>T, XM_017001944.1:c.2734C>G, XM_017001944.1:c.2734C>T, XM_017001946.2:c.2182C>G, XM_017001946.2:c.2182C>T, XM_017001946.1:c.2182C>G, XM_017001946.1:c.2182C>T, XM_047426475.1:c.3025C>G, XM_047426475.1:c.3025C>T, XM_047426483.1:c.3025C>G, XM_047426483.1:c.3025C>T, XM_047426486.1:c.2998C>G, XM_047426486.1:c.2998C>T, XM_047426492.1:c.2761C>G, XM_047426492.1:c.2761C>T, XM_047426501.1:c.2461C>G, XM_047426501.1:c.2461C>T, XM_047426504.1:c.2488C>G, XM_047426504.1:c.2488C>T, XM_047426493.1:c.2749C>G, XM_047426493.1:c.2749C>T, XM_047426507.1:c.2476C>G, XM_047426507.1:c.2476C>T, XM_047426512.1:c.2461C>G, XM_047426512.1:c.2461C>T, XM_047426514.1:c.2449C>G, XM_047426514.1:c.2449C>T, XM_047426519.1:c.2446C>G, XM_047426519.1:c.2446C>T, NP_002831.2:p.Arg1019Gly, NP_002831.2:p.Arg1019Trp, NP_569707.2:p.Arg1010Gly, NP_569707.2:p.Arg1010Trp, NP_001316067.1:p.Arg734Gly, NP_001316067.1:p.Arg734Trp, NP_001316066.1:p.Arg730Gly, NP_001316066.1:p.Arg730Trp, NP_001316068.1:p.Arg724Gly, NP_001316068.1:p.Arg724Trp, NP_001316069.1:p.Arg715Gly, NP_001316069.1:p.Arg715Trp, XP_011540173.1:p.Arg1023Gly, XP_011540173.1:p.Arg1023Trp, XP_011540174.1:p.Arg1023Gly, XP_011540174.1:p.Arg1023Trp, XP_006710858.1:p.Arg1023Gly, XP_006710858.1:p.Arg1023Trp, XP_005271136.1:p.Arg1023Gly, XP_005271136.1:p.Arg1023Trp, XP_005271137.1:p.Arg1019Gly, XP_005271137.1:p.Arg1019Trp, XP_006710859.1:p.Arg1014Gly, XP_006710859.1:p.Arg1014Trp, XP_006710860.1:p.Arg1023Gly, XP_006710860.1:p.Arg1023Trp, XP_005271138.1:p.Arg1010Gly, XP_005271138.1:p.Arg1010Trp, XP_006710861.1:p.Arg1014Gly, XP_006710861.1:p.Arg1014Trp, XP_006710862.1:p.Arg921Gly, XP_006710862.1:p.Arg921Trp, XP_006710863.1:p.Arg912Gly, XP_006710863.1:p.Arg912Trp, XP_005271139.1:p.Arg908Gly, XP_005271139.1:p.Arg908Trp, XP_006710864.1:p.Arg830Gly, XP_006710864.1:p.Arg830Trp, XP_011540175.1:p.Arg1023Gly, XP_011540175.1:p.Arg1023Trp, XP_016857431.1:p.Arg1013Gly, XP_016857431.1:p.Arg1013Trp, XP_016857434.1:p.Arg908Gly, XP_016857434.1:p.Arg908Trp, XP_016857433.1:p.Arg912Gly, XP_016857433.1:p.Arg912Trp, XP_016857435.1:p.Arg728Gly, XP_016857435.1:p.Arg728Trp, XP_047282431.1:p.Arg1009Gly, XP_047282431.1:p.Arg1009Trp, XP_047282439.1:p.Arg1009Gly, XP_047282439.1:p.Arg1009Trp, XP_047282442.1:p.Arg1000Gly, XP_047282442.1:p.Arg1000Trp, XP_047282448.1:p.Arg921Gly, XP_047282448.1:p.Arg921Trp, XP_047282457.1:p.Arg821Gly, XP_047282457.1:p.Arg821Trp, XP_047282460.1:p.Arg830Gly, XP_047282460.1:p.Arg830Trp, XP_047282449.1:p.Arg917Gly, XP_047282449.1:p.Arg917Trp, XP_047282463.1:p.Arg826Gly, XP_047282463.1:p.Arg826Trp, XP_047282468.1:p.Arg821Gly, XP_047282468.1:p.Arg821Trp, XP_047282470.1:p.Arg817Gly, XP_047282470.1:p.Arg817Trp, XP_047282475.1:p.Arg816Gly, XP_047282475.1:p.Arg816Trp

                        12.

                        rs1478012102 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>A [Show Flanks]
                          Chromosome:
                          1:43620479 (GRCh38)
                          1:44086150 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:43620478:C:A
                          Gene:
                          PTPRF (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by cluster
                          MAF:
                          A=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000001.11:g.43620479C>A, NC_000001.10:g.44086150C>A, NG_047072.1:g.103242C>A, NM_002840.5:c.5264C>A, NM_002840.4:c.5264C>A, NM_002840.3:c.5264C>A, NM_130440.4:c.5237C>A, NM_130440.3:c.5237C>A, NM_130440.2:c.5237C>A, NM_001329138.2:c.4454C>A, NM_001329138.1:c.4454C>A, NM_001329137.2:c.4430C>A, NM_001329137.1:c.4430C>A, NM_001329139.2:c.4412C>A, NM_001329139.1:c.4412C>A, NM_001329140.2:c.4352C>A, NM_001329140.1:c.4352C>A, XM_011541871.4:c.5309C>A, XM_011541871.3:c.5309C>A, XM_011541871.2:c.5309C>A, XM_011541871.1:c.5309C>A, XM_011541872.4:c.5309C>A, XM_011541872.3:c.5309C>A, XM_011541872.2:c.5309C>A, XM_011541872.1:c.5309C>A, XM_006710795.4:c.5309C>A, XM_006710795.3:c.5309C>A, XM_006710795.2:c.5309C>A, XM_006710795.1:c.5309C>A, XM_005271079.4:c.5309C>A, XM_005271079.3:c.5309C>A, XM_005271079.2:c.5309C>A, XM_005271079.1:c.5309C>A, XM_005271080.4:c.5297C>A, XM_005271080.3:c.5297C>A, XM_005271080.2:c.5297C>A, XM_005271080.1:c.5297C>A, XM_006710796.4:c.5282C>A, XM_006710796.3:c.5282C>A, XM_006710796.2:c.5282C>A, XM_006710796.1:c.5282C>A, XM_006710797.4:c.5276C>A, XM_006710797.3:c.5276C>A, XM_006710797.2:c.5276C>A, XM_006710797.1:c.5276C>A, XM_005271081.4:c.5270C>A, XM_005271081.3:c.5270C>A, XM_005271081.2:c.5270C>A, XM_005271081.1:c.5270C>A, XM_006710798.4:c.5249C>A, XM_006710798.3:c.5249C>A, XM_006710798.2:c.5249C>A, XM_006710798.1:c.5249C>A, XM_006710799.4:c.5003C>A, XM_006710799.3:c.5003C>A, XM_006710799.2:c.5003C>A, XM_006710799.1:c.5003C>A, XM_006710800.4:c.4976C>A, XM_006710800.3:c.4976C>A, XM_006710800.2:c.4976C>A, XM_006710800.1:c.4976C>A, XM_005271082.4:c.4931C>A, XM_005271082.3:c.4931C>A, XM_005271082.2:c.4931C>A, XM_005271082.1:c.4931C>A, XM_006710801.4:c.4730C>A, XM_006710801.3:c.4730C>A, XM_006710801.2:c.4730C>A, XM_006710801.1:c.4730C>A, XM_011541873.3:c.5309C>A, XM_011541873.2:c.5309C>A, XM_011541873.1:c.5309C>A, XM_017001942.3:c.5279C>A, XM_017001942.2:c.5279C>A, XM_017001942.1:c.5279C>A, XM_017001945.2:c.4964C>A, XM_017001945.1:c.4964C>A, XM_017001944.2:c.4943C>A, XM_017001944.1:c.4943C>A, XM_017001946.2:c.4424C>A, XM_017001946.1:c.4424C>A, XM_047426475.1:c.5267C>A, XM_047426483.1:c.5234C>A, XM_047426486.1:c.5207C>A, XM_047426492.1:c.4970C>A, XM_047426501.1:c.4703C>A, XM_047426504.1:c.4697C>A, XM_047426493.1:c.4991C>A, XM_047426507.1:c.4685C>A, XM_047426512.1:c.4670C>A, XM_047426514.1:c.4658C>A, XM_047426519.1:c.4655C>A, NP_002831.2:p.Ala1755Glu, NP_569707.2:p.Ala1746Glu, NP_001316067.1:p.Ala1485Glu, NP_001316066.1:p.Ala1477Glu, NP_001316068.1:p.Ala1471Glu, NP_001316069.1:p.Ala1451Glu, XP_011540173.1:p.Ala1770Glu, XP_011540174.1:p.Ala1770Glu, XP_006710858.1:p.Ala1770Glu, XP_005271136.1:p.Ala1770Glu, XP_005271137.1:p.Ala1766Glu, XP_006710859.1:p.Ala1761Glu, XP_006710860.1:p.Ala1759Glu, XP_005271138.1:p.Ala1757Glu, XP_006710861.1:p.Ala1750Glu, XP_006710862.1:p.Ala1668Glu, XP_006710863.1:p.Ala1659Glu, XP_005271139.1:p.Ala1644Glu, XP_006710864.1:p.Ala1577Glu, XP_011540175.1:p.Ala1770Glu, XP_016857431.1:p.Ala1760Glu, XP_016857434.1:p.Ala1655Glu, XP_016857433.1:p.Ala1648Glu, XP_016857435.1:p.Ala1475Glu, XP_047282431.1:p.Ala1756Glu, XP_047282439.1:p.Ala1745Glu, XP_047282442.1:p.Ala1736Glu, XP_047282448.1:p.Ala1657Glu, XP_047282457.1:p.Ala1568Glu, XP_047282460.1:p.Ala1566Glu, XP_047282449.1:p.Ala1664Glu, XP_047282463.1:p.Ala1562Glu, XP_047282468.1:p.Ala1557Glu, XP_047282470.1:p.Ala1553Glu, XP_047282475.1:p.Ala1552Glu

                          13.

                          rs1476586476 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            1:43569609 (GRCh38)
                            1:44035280 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:43569608:G:C
                            Gene:
                            PTPRF (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            C=0.000111/1 (ALFA)
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.43569609G>C, NC_000001.10:g.44035280G>C, NG_047072.1:g.52372G>C, NM_002840.5:c.399G>C, NM_002840.4:c.399G>C, NM_002840.3:c.399G>C, NM_130440.4:c.399G>C, NM_130440.3:c.399G>C, NM_130440.2:c.399G>C, NM_001329138.2:c.399G>C, NM_001329138.1:c.399G>C, NM_001329137.2:c.399G>C, NM_001329137.1:c.399G>C, NM_001329139.2:c.399G>C, NM_001329139.1:c.399G>C, NM_001329140.2:c.399G>C, NM_001329140.1:c.399G>C, XM_011541871.4:c.399G>C, XM_011541871.3:c.399G>C, XM_011541871.2:c.399G>C, XM_011541871.1:c.399G>C, XM_011541872.4:c.399G>C, XM_011541872.3:c.399G>C, XM_011541872.2:c.399G>C, XM_011541872.1:c.399G>C, XM_006710795.4:c.399G>C, XM_006710795.3:c.399G>C, XM_006710795.2:c.399G>C, XM_006710795.1:c.399G>C, XM_005271079.4:c.399G>C, XM_005271079.3:c.399G>C, XM_005271079.2:c.399G>C, XM_005271079.1:c.399G>C, XM_005271080.4:c.399G>C, XM_005271080.3:c.399G>C, XM_005271080.2:c.399G>C, XM_005271080.1:c.399G>C, XM_006710796.4:c.399G>C, XM_006710796.3:c.399G>C, XM_006710796.2:c.399G>C, XM_006710796.1:c.399G>C, XM_006710797.4:c.399G>C, XM_006710797.3:c.399G>C, XM_006710797.2:c.399G>C, XM_006710797.1:c.399G>C, XM_005271081.4:c.399G>C, XM_005271081.3:c.399G>C, XM_005271081.2:c.399G>C, XM_005271081.1:c.399G>C, XM_006710798.4:c.399G>C, XM_006710798.3:c.399G>C, XM_006710798.2:c.399G>C, XM_006710798.1:c.399G>C, XM_006710799.4:c.399G>C, XM_006710799.3:c.399G>C, XM_006710799.2:c.399G>C, XM_006710799.1:c.399G>C, XM_006710800.4:c.399G>C, XM_006710800.3:c.399G>C, XM_006710800.2:c.399G>C, XM_006710800.1:c.399G>C, XM_005271082.4:c.399G>C, XM_005271082.3:c.399G>C, XM_005271082.2:c.399G>C, XM_005271082.1:c.399G>C, XM_006710801.4:c.399G>C, XM_006710801.3:c.399G>C, XM_006710801.2:c.399G>C, XM_006710801.1:c.399G>C, XM_011541873.3:c.399G>C, XM_011541873.2:c.399G>C, XM_011541873.1:c.399G>C, XM_017001942.3:c.369G>C, XM_017001942.2:c.369G>C, XM_017001942.1:c.369G>C, XM_017001945.2:c.399G>C, XM_017001945.1:c.399G>C, XM_017001944.2:c.399G>C, XM_017001944.1:c.399G>C, XM_017001946.2:c.399G>C, XM_017001946.1:c.399G>C, XM_047426475.1:c.369G>C, XM_047426483.1:c.369G>C, XM_047426486.1:c.369G>C, XM_047426492.1:c.399G>C, XM_047426501.1:c.399G>C, XM_047426504.1:c.399G>C, XM_047426493.1:c.399G>C, XM_047426507.1:c.399G>C, XM_047426512.1:c.399G>C, XM_047426514.1:c.399G>C, XM_047426519.1:c.369G>C

                            14.

                            rs1476106910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              1:43619103 (GRCh38)
                              1:44084774 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:43619102:A:G
                              Gene:
                              PTPRF (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000001.11:g.43619103A>G, NC_000001.10:g.44084774A>G, NG_047072.1:g.101866A>G, NM_002840.5:c.4547A>G, NM_002840.4:c.4547A>G, NM_002840.3:c.4547A>G, NM_130440.4:c.4520A>G, NM_130440.3:c.4520A>G, NM_130440.2:c.4520A>G, NM_001329138.2:c.3737A>G, NM_001329138.1:c.3737A>G, NM_001329137.2:c.3713A>G, NM_001329137.1:c.3713A>G, NM_001329139.2:c.3695A>G, NM_001329139.1:c.3695A>G, NM_001329140.2:c.3635A>G, NM_001329140.1:c.3635A>G, XM_011541871.4:c.4592A>G, XM_011541871.3:c.4592A>G, XM_011541871.2:c.4592A>G, XM_011541871.1:c.4592A>G, XM_011541872.4:c.4592A>G, XM_011541872.3:c.4592A>G, XM_011541872.2:c.4592A>G, XM_011541872.1:c.4592A>G, XM_006710795.4:c.4592A>G, XM_006710795.3:c.4592A>G, XM_006710795.2:c.4592A>G, XM_006710795.1:c.4592A>G, XM_005271079.4:c.4592A>G, XM_005271079.3:c.4592A>G, XM_005271079.2:c.4592A>G, XM_005271079.1:c.4592A>G, XM_005271080.4:c.4580A>G, XM_005271080.3:c.4580A>G, XM_005271080.2:c.4580A>G, XM_005271080.1:c.4580A>G, XM_006710796.4:c.4565A>G, XM_006710796.3:c.4565A>G, XM_006710796.2:c.4565A>G, XM_006710796.1:c.4565A>G, XM_006710797.4:c.4559A>G, XM_006710797.3:c.4559A>G, XM_006710797.2:c.4559A>G, XM_006710797.1:c.4559A>G, XM_005271081.4:c.4553A>G, XM_005271081.3:c.4553A>G, XM_005271081.2:c.4553A>G, XM_005271081.1:c.4553A>G, XM_006710798.4:c.4532A>G, XM_006710798.3:c.4532A>G, XM_006710798.2:c.4532A>G, XM_006710798.1:c.4532A>G, XM_006710799.4:c.4286A>G, XM_006710799.3:c.4286A>G, XM_006710799.2:c.4286A>G, XM_006710799.1:c.4286A>G, XM_006710800.4:c.4259A>G, XM_006710800.3:c.4259A>G, XM_006710800.2:c.4259A>G, XM_006710800.1:c.4259A>G, XM_005271082.4:c.4214A>G, XM_005271082.3:c.4214A>G, XM_005271082.2:c.4214A>G, XM_005271082.1:c.4214A>G, XM_006710801.4:c.4013A>G, XM_006710801.3:c.4013A>G, XM_006710801.2:c.4013A>G, XM_006710801.1:c.4013A>G, XM_011541873.3:c.4592A>G, XM_011541873.2:c.4592A>G, XM_011541873.1:c.4592A>G, XM_017001942.3:c.4562A>G, XM_017001942.2:c.4562A>G, XM_017001942.1:c.4562A>G, XM_017001945.2:c.4247A>G, XM_017001945.1:c.4247A>G, XM_017001944.2:c.4226A>G, XM_017001944.1:c.4226A>G, XM_017001946.2:c.3707A>G, XM_017001946.1:c.3707A>G, XM_047426475.1:c.4550A>G, XM_047426483.1:c.4517A>G, XM_047426486.1:c.4490A>G, XM_047426492.1:c.4253A>G, XM_047426501.1:c.3986A>G, XM_047426504.1:c.3980A>G, XM_047426493.1:c.4274A>G, XM_047426507.1:c.3968A>G, XM_047426512.1:c.3953A>G, XM_047426514.1:c.3941A>G, XM_047426519.1:c.3938A>G, NP_002831.2:p.Asp1516Gly, NP_569707.2:p.Asp1507Gly, NP_001316067.1:p.Asp1246Gly, NP_001316066.1:p.Asp1238Gly, NP_001316068.1:p.Asp1232Gly, NP_001316069.1:p.Asp1212Gly, XP_011540173.1:p.Asp1531Gly, XP_011540174.1:p.Asp1531Gly, XP_006710858.1:p.Asp1531Gly, XP_005271136.1:p.Asp1531Gly, XP_005271137.1:p.Asp1527Gly, XP_006710859.1:p.Asp1522Gly, XP_006710860.1:p.Asp1520Gly, XP_005271138.1:p.Asp1518Gly, XP_006710861.1:p.Asp1511Gly, XP_006710862.1:p.Asp1429Gly, XP_006710863.1:p.Asp1420Gly, XP_005271139.1:p.Asp1405Gly, XP_006710864.1:p.Asp1338Gly, XP_011540175.1:p.Asp1531Gly, XP_016857431.1:p.Asp1521Gly, XP_016857434.1:p.Asp1416Gly, XP_016857433.1:p.Asp1409Gly, XP_016857435.1:p.Asp1236Gly, XP_047282431.1:p.Asp1517Gly, XP_047282439.1:p.Asp1506Gly, XP_047282442.1:p.Asp1497Gly, XP_047282448.1:p.Asp1418Gly, XP_047282457.1:p.Asp1329Gly, XP_047282460.1:p.Asp1327Gly, XP_047282449.1:p.Asp1425Gly, XP_047282463.1:p.Asp1323Gly, XP_047282468.1:p.Asp1318Gly, XP_047282470.1:p.Asp1314Gly, XP_047282475.1:p.Asp1313Gly

                              15.

                              rs1475129474 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G [Show Flanks]
                                Chromosome:
                                1:43618632 (GRCh38)
                                1:44084303 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:43618631:A:G
                                Gene:
                                PTPRF (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by cluster
                                MAF:
                                G=0.000004/1 (GnomAD_exomes)
                                HGVS:
                                NC_000001.11:g.43618632A>G, NC_000001.10:g.44084303A>G, NG_047072.1:g.101395A>G, NM_002840.5:c.4374A>G, NM_002840.4:c.4374A>G, NM_002840.3:c.4374A>G, NM_130440.4:c.4347A>G, NM_130440.3:c.4347A>G, NM_130440.2:c.4347A>G, NM_001329138.2:c.3564A>G, NM_001329138.1:c.3564A>G, NM_001329137.2:c.3540A>G, NM_001329137.1:c.3540A>G, NM_001329139.2:c.3522A>G, NM_001329139.1:c.3522A>G, NM_001329140.2:c.3462A>G, NM_001329140.1:c.3462A>G, XM_011541871.4:c.4419A>G, XM_011541871.3:c.4419A>G, XM_011541871.2:c.4419A>G, XM_011541871.1:c.4419A>G, XM_011541872.4:c.4419A>G, XM_011541872.3:c.4419A>G, XM_011541872.2:c.4419A>G, XM_011541872.1:c.4419A>G, XM_006710795.4:c.4419A>G, XM_006710795.3:c.4419A>G, XM_006710795.2:c.4419A>G, XM_006710795.1:c.4419A>G, XM_005271079.4:c.4419A>G, XM_005271079.3:c.4419A>G, XM_005271079.2:c.4419A>G, XM_005271079.1:c.4419A>G, XM_005271080.4:c.4407A>G, XM_005271080.3:c.4407A>G, XM_005271080.2:c.4407A>G, XM_005271080.1:c.4407A>G, XM_006710796.4:c.4392A>G, XM_006710796.3:c.4392A>G, XM_006710796.2:c.4392A>G, XM_006710796.1:c.4392A>G, XM_006710797.4:c.4386A>G, XM_006710797.3:c.4386A>G, XM_006710797.2:c.4386A>G, XM_006710797.1:c.4386A>G, XM_005271081.4:c.4380A>G, XM_005271081.3:c.4380A>G, XM_005271081.2:c.4380A>G, XM_005271081.1:c.4380A>G, XM_006710798.4:c.4359A>G, XM_006710798.3:c.4359A>G, XM_006710798.2:c.4359A>G, XM_006710798.1:c.4359A>G, XM_006710799.4:c.4113A>G, XM_006710799.3:c.4113A>G, XM_006710799.2:c.4113A>G, XM_006710799.1:c.4113A>G, XM_006710800.4:c.4086A>G, XM_006710800.3:c.4086A>G, XM_006710800.2:c.4086A>G, XM_006710800.1:c.4086A>G, XM_005271082.4:c.4041A>G, XM_005271082.3:c.4041A>G, XM_005271082.2:c.4041A>G, XM_005271082.1:c.4041A>G, XM_006710801.4:c.3840A>G, XM_006710801.3:c.3840A>G, XM_006710801.2:c.3840A>G, XM_006710801.1:c.3840A>G, XM_011541873.3:c.4419A>G, XM_011541873.2:c.4419A>G, XM_011541873.1:c.4419A>G, XM_017001942.3:c.4389A>G, XM_017001942.2:c.4389A>G, XM_017001942.1:c.4389A>G, XM_017001945.2:c.4074A>G, XM_017001945.1:c.4074A>G, XM_017001944.2:c.4053A>G, XM_017001944.1:c.4053A>G, XM_017001946.2:c.3534A>G, XM_017001946.1:c.3534A>G, XM_047426475.1:c.4377A>G, XM_047426483.1:c.4344A>G, XM_047426486.1:c.4317A>G, XM_047426492.1:c.4080A>G, XM_047426501.1:c.3813A>G, XM_047426504.1:c.3807A>G, XM_047426493.1:c.4101A>G, XM_047426507.1:c.3795A>G, XM_047426512.1:c.3780A>G, XM_047426514.1:c.3768A>G, XM_047426519.1:c.3765A>G

                                16.

                                rs1475067823 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  1:43619351 (GRCh38)
                                  1:44085022 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:43619350:C:T
                                  Gene:
                                  PTPRF (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000008/2 (TOPMED)
                                  T=0.000014/2 (GnomAD)
                                  T=0.000016/4 (GnomAD_exomes)
                                  HGVS:
                                  NC_000001.11:g.43619351C>T, NC_000001.10:g.44085022C>T, NG_047072.1:g.102114C>T, NM_002840.5:c.4710C>T, NM_002840.4:c.4710C>T, NM_002840.3:c.4710C>T, NM_130440.4:c.4683C>T, NM_130440.3:c.4683C>T, NM_130440.2:c.4683C>T, NM_001329138.2:c.3900C>T, NM_001329138.1:c.3900C>T, NM_001329137.2:c.3876C>T, NM_001329137.1:c.3876C>T, NM_001329139.2:c.3858C>T, NM_001329139.1:c.3858C>T, NM_001329140.2:c.3798C>T, NM_001329140.1:c.3798C>T, XM_011541871.4:c.4755C>T, XM_011541871.3:c.4755C>T, XM_011541871.2:c.4755C>T, XM_011541871.1:c.4755C>T, XM_011541872.4:c.4755C>T, XM_011541872.3:c.4755C>T, XM_011541872.2:c.4755C>T, XM_011541872.1:c.4755C>T, XM_006710795.4:c.4755C>T, XM_006710795.3:c.4755C>T, XM_006710795.2:c.4755C>T, XM_006710795.1:c.4755C>T, XM_005271079.4:c.4755C>T, XM_005271079.3:c.4755C>T, XM_005271079.2:c.4755C>T, XM_005271079.1:c.4755C>T, XM_005271080.4:c.4743C>T, XM_005271080.3:c.4743C>T, XM_005271080.2:c.4743C>T, XM_005271080.1:c.4743C>T, XM_006710796.4:c.4728C>T, XM_006710796.3:c.4728C>T, XM_006710796.2:c.4728C>T, XM_006710796.1:c.4728C>T, XM_006710797.4:c.4722C>T, XM_006710797.3:c.4722C>T, XM_006710797.2:c.4722C>T, XM_006710797.1:c.4722C>T, XM_005271081.4:c.4716C>T, XM_005271081.3:c.4716C>T, XM_005271081.2:c.4716C>T, XM_005271081.1:c.4716C>T, XM_006710798.4:c.4695C>T, XM_006710798.3:c.4695C>T, XM_006710798.2:c.4695C>T, XM_006710798.1:c.4695C>T, XM_006710799.4:c.4449C>T, XM_006710799.3:c.4449C>T, XM_006710799.2:c.4449C>T, XM_006710799.1:c.4449C>T, XM_006710800.4:c.4422C>T, XM_006710800.3:c.4422C>T, XM_006710800.2:c.4422C>T, XM_006710800.1:c.4422C>T, XM_005271082.4:c.4377C>T, XM_005271082.3:c.4377C>T, XM_005271082.2:c.4377C>T, XM_005271082.1:c.4377C>T, XM_006710801.4:c.4176C>T, XM_006710801.3:c.4176C>T, XM_006710801.2:c.4176C>T, XM_006710801.1:c.4176C>T, XM_011541873.3:c.4755C>T, XM_011541873.2:c.4755C>T, XM_011541873.1:c.4755C>T, XM_017001942.3:c.4725C>T, XM_017001942.2:c.4725C>T, XM_017001942.1:c.4725C>T, XM_017001945.2:c.4410C>T, XM_017001945.1:c.4410C>T, XM_017001944.2:c.4389C>T, XM_017001944.1:c.4389C>T, XM_017001946.2:c.3870C>T, XM_017001946.1:c.3870C>T, XM_047426475.1:c.4713C>T, XM_047426483.1:c.4680C>T, XM_047426486.1:c.4653C>T, XM_047426492.1:c.4416C>T, XM_047426501.1:c.4149C>T, XM_047426504.1:c.4143C>T, XM_047426493.1:c.4437C>T, XM_047426507.1:c.4131C>T, XM_047426512.1:c.4116C>T, XM_047426514.1:c.4104C>T, XM_047426519.1:c.4101C>T

                                  17.

                                  rs1474519709 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    A>C [Show Flanks]
                                    Chromosome:
                                    1:43588999 (GRCh38)
                                    1:44054670 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:43588998:A:C
                                    Gene:
                                    PTPRF (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000005/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000001.11:g.43588999A>C, NC_000001.10:g.44054670A>C, NG_047072.1:g.71762A>C, NM_002840.5:c.948A>C, NM_002840.4:c.948A>C, NM_002840.3:c.948A>C, NM_130440.4:c.948A>C, NM_130440.3:c.948A>C, NM_130440.2:c.948A>C, NM_001329138.2:c.978A>C, NM_001329138.1:c.978A>C, NM_001329137.2:c.966A>C, NM_001329137.1:c.966A>C, NM_001329139.2:c.948A>C, NM_001329139.1:c.948A>C, NM_001329140.2:c.948A>C, NM_001329140.1:c.948A>C, XM_011541871.4:c.960A>C, XM_011541871.3:c.960A>C, XM_011541871.2:c.960A>C, XM_011541871.1:c.960A>C, XM_011541872.4:c.960A>C, XM_011541872.3:c.960A>C, XM_011541872.2:c.960A>C, XM_011541872.1:c.960A>C, XM_006710795.4:c.960A>C, XM_006710795.3:c.960A>C, XM_006710795.2:c.960A>C, XM_006710795.1:c.960A>C, XM_005271079.4:c.960A>C, XM_005271079.3:c.960A>C, XM_005271079.2:c.960A>C, XM_005271079.1:c.960A>C, XM_005271080.4:c.948A>C, XM_005271080.3:c.948A>C, XM_005271080.2:c.948A>C, XM_005271080.1:c.948A>C, XM_006710796.4:c.960A>C, XM_006710796.3:c.960A>C, XM_006710796.2:c.960A>C, XM_006710796.1:c.960A>C, XM_006710797.4:c.960A>C, XM_006710797.3:c.960A>C, XM_006710797.2:c.960A>C, XM_006710797.1:c.960A>C, XM_005271081.4:c.948A>C, XM_005271081.3:c.948A>C, XM_005271081.2:c.948A>C, XM_005271081.1:c.948A>C, XM_006710798.4:c.960A>C, XM_006710798.3:c.960A>C, XM_006710798.2:c.960A>C, XM_006710798.1:c.960A>C, XM_006710799.4:c.960A>C, XM_006710799.3:c.960A>C, XM_006710799.2:c.960A>C, XM_006710799.1:c.960A>C, XM_006710800.4:c.960A>C, XM_006710800.3:c.960A>C, XM_006710800.2:c.960A>C, XM_006710800.1:c.960A>C, XM_005271082.4:c.948A>C, XM_005271082.3:c.948A>C, XM_005271082.2:c.948A>C, XM_005271082.1:c.948A>C, XM_006710801.4:c.960A>C, XM_006710801.3:c.960A>C, XM_006710801.2:c.960A>C, XM_006710801.1:c.960A>C, XM_011541873.3:c.960A>C, XM_011541873.2:c.960A>C, XM_011541873.1:c.960A>C, XM_017001942.3:c.930A>C, XM_017001942.2:c.930A>C, XM_017001942.1:c.930A>C, XM_017001945.2:c.948A>C, XM_017001945.1:c.948A>C, XM_017001944.2:c.960A>C, XM_017001944.1:c.960A>C, XM_017001946.2:c.960A>C, XM_017001946.1:c.960A>C, XM_047426475.1:c.918A>C, XM_047426483.1:c.918A>C, XM_047426486.1:c.918A>C, XM_047426492.1:c.960A>C, XM_047426501.1:c.960A>C, XM_047426504.1:c.960A>C, XM_047426493.1:c.948A>C, XM_047426507.1:c.948A>C, XM_047426512.1:c.960A>C, XM_047426514.1:c.948A>C, XM_047426519.1:c.918A>C, NP_002831.2:p.Lys316Asn, NP_569707.2:p.Lys316Asn, NP_001316067.1:p.Lys326Asn, NP_001316066.1:p.Lys322Asn, NP_001316068.1:p.Lys316Asn, NP_001316069.1:p.Lys316Asn, XP_011540173.1:p.Lys320Asn, XP_011540174.1:p.Lys320Asn, XP_006710858.1:p.Lys320Asn, XP_005271136.1:p.Lys320Asn, XP_005271137.1:p.Lys316Asn, XP_006710859.1:p.Lys320Asn, XP_006710860.1:p.Lys320Asn, XP_005271138.1:p.Lys316Asn, XP_006710861.1:p.Lys320Asn, XP_006710862.1:p.Lys320Asn, XP_006710863.1:p.Lys320Asn, XP_005271139.1:p.Lys316Asn, XP_006710864.1:p.Lys320Asn, XP_011540175.1:p.Lys320Asn, XP_016857431.1:p.Lys310Asn, XP_016857434.1:p.Lys316Asn, XP_016857433.1:p.Lys320Asn, XP_016857435.1:p.Lys320Asn, XP_047282431.1:p.Lys306Asn, XP_047282439.1:p.Lys306Asn, XP_047282442.1:p.Lys306Asn, XP_047282448.1:p.Lys320Asn, XP_047282457.1:p.Lys320Asn, XP_047282460.1:p.Lys320Asn, XP_047282449.1:p.Lys316Asn, XP_047282463.1:p.Lys316Asn, XP_047282468.1:p.Lys320Asn, XP_047282470.1:p.Lys316Asn, XP_047282475.1:p.Lys306Asn

                                    18.

                                    rs1473849838 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>G,T [Show Flanks]
                                      Chromosome:
                                      1:43603421 (GRCh38)
                                      1:44069092 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:43603420:C:G,NC_000001.11:43603420:C:T
                                      Gene:
                                      PTPRF (Varview)
                                      Functional Consequence:
                                      synonymous_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000008/2 (TOPMED)
                                      T=0.000014/2 (GnomAD)
                                      HGVS:
                                      NC_000001.11:g.43603421C>G, NC_000001.11:g.43603421C>T, NC_000001.10:g.44069092C>G, NC_000001.10:g.44069092C>T, NG_047072.1:g.86184C>G, NG_047072.1:g.86184C>T, NM_002840.5:c.2346C>G, NM_002840.5:c.2346C>T, NM_002840.4:c.2346C>G, NM_002840.4:c.2346C>T, NM_002840.3:c.2346C>G, NM_002840.3:c.2346C>T, NM_130440.4:c.2319C>G, NM_130440.4:c.2319C>T, NM_130440.3:c.2319C>G, NM_130440.3:c.2319C>T, NM_130440.2:c.2319C>G, NM_130440.2:c.2319C>T, NM_001329138.2:c.2070C>G, NM_001329138.2:c.2070C>T, NM_001329138.1:c.2070C>G, NM_001329138.1:c.2070C>T, NM_001329137.2:c.2058C>G, NM_001329137.2:c.2058C>T, NM_001329137.1:c.2058C>G, NM_001329137.1:c.2058C>T, NM_001329139.2:c.2040C>G, NM_001329139.2:c.2040C>T, NM_001329139.1:c.2040C>G, NM_001329139.1:c.2040C>T, NM_001329140.2:c.2013C>G, NM_001329140.2:c.2013C>T, NM_001329140.1:c.2013C>G, NM_001329140.1:c.2013C>T, XM_011541871.4:c.2358C>G, XM_011541871.4:c.2358C>T, XM_011541871.3:c.2358C>G, XM_011541871.3:c.2358C>T, XM_011541871.2:c.2358C>G, XM_011541871.2:c.2358C>T, XM_011541871.1:c.2358C>G, XM_011541871.1:c.2358C>T, XM_011541872.4:c.2358C>G, XM_011541872.4:c.2358C>T, XM_011541872.3:c.2358C>G, XM_011541872.3:c.2358C>T, XM_011541872.2:c.2358C>G, XM_011541872.2:c.2358C>T, XM_011541872.1:c.2358C>G, XM_011541872.1:c.2358C>T, XM_006710795.4:c.2358C>G, XM_006710795.4:c.2358C>T, XM_006710795.3:c.2358C>G, XM_006710795.3:c.2358C>T, XM_006710795.2:c.2358C>G, XM_006710795.2:c.2358C>T, XM_006710795.1:c.2358C>G, XM_006710795.1:c.2358C>T, XM_005271079.4:c.2358C>G, XM_005271079.4:c.2358C>T, XM_005271079.3:c.2358C>G, XM_005271079.3:c.2358C>T, XM_005271079.2:c.2358C>G, XM_005271079.2:c.2358C>T, XM_005271079.1:c.2358C>G, XM_005271079.1:c.2358C>T, XM_005271080.4:c.2346C>G, XM_005271080.4:c.2346C>T, XM_005271080.3:c.2346C>G, XM_005271080.3:c.2346C>T, XM_005271080.2:c.2346C>G, XM_005271080.2:c.2346C>T, XM_005271080.1:c.2346C>G, XM_005271080.1:c.2346C>T, XM_006710796.4:c.2331C>G, XM_006710796.4:c.2331C>T, XM_006710796.3:c.2331C>G, XM_006710796.3:c.2331C>T, XM_006710796.2:c.2331C>G, XM_006710796.2:c.2331C>T, XM_006710796.1:c.2331C>G, XM_006710796.1:c.2331C>T, XM_006710797.4:c.2358C>G, XM_006710797.4:c.2358C>T, XM_006710797.3:c.2358C>G, XM_006710797.3:c.2358C>T, XM_006710797.2:c.2358C>G, XM_006710797.2:c.2358C>T, XM_006710797.1:c.2358C>G, XM_006710797.1:c.2358C>T, XM_005271081.4:c.2319C>G, XM_005271081.4:c.2319C>T, XM_005271081.3:c.2319C>G, XM_005271081.3:c.2319C>T, XM_005271081.2:c.2319C>G, XM_005271081.2:c.2319C>T, XM_005271081.1:c.2319C>G, XM_005271081.1:c.2319C>T, XM_006710798.4:c.2331C>G, XM_006710798.4:c.2331C>T, XM_006710798.3:c.2331C>G, XM_006710798.3:c.2331C>T, XM_006710798.2:c.2331C>G, XM_006710798.2:c.2331C>T, XM_006710798.1:c.2331C>G, XM_006710798.1:c.2331C>T, XM_006710799.4:c.2052C>G, XM_006710799.4:c.2052C>T, XM_006710799.3:c.2052C>G, XM_006710799.3:c.2052C>T, XM_006710799.2:c.2052C>G, XM_006710799.2:c.2052C>T, XM_006710799.1:c.2052C>G, XM_006710799.1:c.2052C>T, XM_006710800.4:c.2025C>G, XM_006710800.4:c.2025C>T, XM_006710800.3:c.2025C>G, XM_006710800.3:c.2025C>T, XM_006710800.2:c.2025C>G, XM_006710800.2:c.2025C>T, XM_006710800.1:c.2025C>G, XM_006710800.1:c.2025C>T, XM_005271082.4:c.2013C>G, XM_005271082.4:c.2013C>T, XM_005271082.3:c.2013C>G, XM_005271082.3:c.2013C>T, XM_005271082.2:c.2013C>G, XM_005271082.2:c.2013C>T, XM_005271082.1:c.2013C>G, XM_005271082.1:c.2013C>T, XM_006710801.4:c.2358C>G, XM_006710801.4:c.2358C>T, XM_006710801.3:c.2358C>G, XM_006710801.3:c.2358C>T, XM_006710801.2:c.2358C>G, XM_006710801.2:c.2358C>T, XM_006710801.1:c.2358C>G, XM_006710801.1:c.2358C>T, XM_011541873.3:c.2358C>G, XM_011541873.3:c.2358C>T, XM_011541873.2:c.2358C>G, XM_011541873.2:c.2358C>T, XM_011541873.1:c.2358C>G, XM_011541873.1:c.2358C>T, XM_017001942.3:c.2328C>G, XM_017001942.3:c.2328C>T, XM_017001942.2:c.2328C>G, XM_017001942.2:c.2328C>T, XM_017001942.1:c.2328C>G, XM_017001942.1:c.2328C>T, XM_017001945.2:c.2013C>G, XM_017001945.2:c.2013C>T, XM_017001945.1:c.2013C>G, XM_017001945.1:c.2013C>T, XM_017001944.2:c.2025C>G, XM_017001944.2:c.2025C>T, XM_017001944.1:c.2025C>G, XM_017001944.1:c.2025C>T, XM_017001946.2:c.2052C>G, XM_017001946.2:c.2052C>T, XM_017001946.1:c.2052C>G, XM_017001946.1:c.2052C>T, XM_047426475.1:c.2316C>G, XM_047426475.1:c.2316C>T, XM_047426483.1:c.2316C>G, XM_047426483.1:c.2316C>T, XM_047426486.1:c.2289C>G, XM_047426486.1:c.2289C>T, XM_047426492.1:c.2052C>G, XM_047426492.1:c.2052C>T, XM_047426501.1:c.2331C>G, XM_047426501.1:c.2331C>T, XM_047426504.1:c.2358C>G, XM_047426504.1:c.2358C>T, XM_047426493.1:c.2040C>G, XM_047426493.1:c.2040C>T, XM_047426507.1:c.2346C>G, XM_047426507.1:c.2346C>T, XM_047426512.1:c.2331C>G, XM_047426512.1:c.2331C>T, XM_047426514.1:c.2319C>G, XM_047426514.1:c.2319C>T, XM_047426519.1:c.2316C>G, XM_047426519.1:c.2316C>T

                                      19.

                                      rs1472807637 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:43598910 (GRCh38)
                                        1:44064581 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:43598909:C:T
                                        Gene:
                                        PTPRF (Varview)
                                        Functional Consequence:
                                        synonymous_variant,coding_sequence_variant
                                        HGVS:
                                        NC_000001.11:g.43598910C>T, NC_000001.10:g.44064581C>T, NG_047072.1:g.81673C>T, NM_002840.5:c.2310C>T, NM_002840.4:c.2310C>T, NM_002840.3:c.2310C>T, NM_130440.4:c.2310C>T, NM_130440.3:c.2310C>T, NM_130440.2:c.2310C>T, NM_001329138.2:c.2034C>T, NM_001329138.1:c.2034C>T, NM_001329137.2:c.2022C>T, NM_001329137.1:c.2022C>T, NM_001329139.2:c.2004C>T, NM_001329139.1:c.2004C>T, NM_001329140.2:c.2004C>T, NM_001329140.1:c.2004C>T, XM_011541871.4:c.2322C>T, XM_011541871.3:c.2322C>T, XM_011541871.2:c.2322C>T, XM_011541871.1:c.2322C>T, XM_011541872.4:c.2322C>T, XM_011541872.3:c.2322C>T, XM_011541872.2:c.2322C>T, XM_011541872.1:c.2322C>T, XM_006710795.4:c.2322C>T, XM_006710795.3:c.2322C>T, XM_006710795.2:c.2322C>T, XM_006710795.1:c.2322C>T, XM_005271079.4:c.2322C>T, XM_005271079.3:c.2322C>T, XM_005271079.2:c.2322C>T, XM_005271079.1:c.2322C>T, XM_005271080.4:c.2310C>T, XM_005271080.3:c.2310C>T, XM_005271080.2:c.2310C>T, XM_005271080.1:c.2310C>T, XM_006710796.4:c.2322C>T, XM_006710796.3:c.2322C>T, XM_006710796.2:c.2322C>T, XM_006710796.1:c.2322C>T, XM_006710797.4:c.2322C>T, XM_006710797.3:c.2322C>T, XM_006710797.2:c.2322C>T, XM_006710797.1:c.2322C>T, XM_005271081.4:c.2310C>T, XM_005271081.3:c.2310C>T, XM_005271081.2:c.2310C>T, XM_005271081.1:c.2310C>T, XM_006710798.4:c.2322C>T, XM_006710798.3:c.2322C>T, XM_006710798.2:c.2322C>T, XM_006710798.1:c.2322C>T, XM_006710799.4:c.2016C>T, XM_006710799.3:c.2016C>T, XM_006710799.2:c.2016C>T, XM_006710799.1:c.2016C>T, XM_006710800.4:c.2016C>T, XM_006710800.3:c.2016C>T, XM_006710800.2:c.2016C>T, XM_006710800.1:c.2016C>T, XM_005271082.4:c.2004C>T, XM_005271082.3:c.2004C>T, XM_005271082.2:c.2004C>T, XM_005271082.1:c.2004C>T, XM_006710801.4:c.2322C>T, XM_006710801.3:c.2322C>T, XM_006710801.2:c.2322C>T, XM_006710801.1:c.2322C>T, XM_011541873.3:c.2322C>T, XM_011541873.2:c.2322C>T, XM_011541873.1:c.2322C>T, XM_017001942.3:c.2292C>T, XM_017001942.2:c.2292C>T, XM_017001942.1:c.2292C>T, XM_017001945.2:c.2004C>T, XM_017001945.1:c.2004C>T, XM_017001944.2:c.2016C>T, XM_017001944.1:c.2016C>T, XM_017001946.2:c.2016C>T, XM_017001946.1:c.2016C>T, XM_047426475.1:c.2280C>T, XM_047426483.1:c.2280C>T, XM_047426486.1:c.2280C>T, XM_047426492.1:c.2016C>T, XM_047426501.1:c.2322C>T, XM_047426504.1:c.2322C>T, XM_047426493.1:c.2004C>T, XM_047426507.1:c.2310C>T, XM_047426512.1:c.2322C>T, XM_047426514.1:c.2310C>T, XM_047426519.1:c.2280C>T

                                        20.

                                        rs1471991235 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          1:43591289 (GRCh38)
                                          1:44056960 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:43591288:C:T
                                          Gene:
                                          PTPRF (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000007/1 (GnomAD)
                                          T=0.000008/2 (TOPMED)
                                          HGVS:
                                          NC_000001.11:g.43591289C>T, NC_000001.10:g.44056960C>T, NG_047072.1:g.74052C>T, NM_002840.5:c.1267C>T, NM_002840.4:c.1267C>T, NM_002840.3:c.1267C>T, NM_130440.4:c.1267C>T, NM_130440.3:c.1267C>T, NM_130440.2:c.1267C>T, NM_001329138.2:c.1297C>T, NM_001329138.1:c.1297C>T, NM_001329137.2:c.1285C>T, NM_001329137.1:c.1285C>T, NM_001329139.2:c.1267C>T, NM_001329139.1:c.1267C>T, NM_001329140.2:c.1267C>T, NM_001329140.1:c.1267C>T, XM_011541871.4:c.1279C>T, XM_011541871.3:c.1279C>T, XM_011541871.2:c.1279C>T, XM_011541871.1:c.1279C>T, XM_011541872.4:c.1279C>T, XM_011541872.3:c.1279C>T, XM_011541872.2:c.1279C>T, XM_011541872.1:c.1279C>T, XM_006710795.4:c.1279C>T, XM_006710795.3:c.1279C>T, XM_006710795.2:c.1279C>T, XM_006710795.1:c.1279C>T, XM_005271079.4:c.1279C>T, XM_005271079.3:c.1279C>T, XM_005271079.2:c.1279C>T, XM_005271079.1:c.1279C>T, XM_005271080.4:c.1267C>T, XM_005271080.3:c.1267C>T, XM_005271080.2:c.1267C>T, XM_005271080.1:c.1267C>T, XM_006710796.4:c.1279C>T, XM_006710796.3:c.1279C>T, XM_006710796.2:c.1279C>T, XM_006710796.1:c.1279C>T, XM_006710797.4:c.1279C>T, XM_006710797.3:c.1279C>T, XM_006710797.2:c.1279C>T, XM_006710797.1:c.1279C>T, XM_005271081.4:c.1267C>T, XM_005271081.3:c.1267C>T, XM_005271081.2:c.1267C>T, XM_005271081.1:c.1267C>T, XM_006710798.4:c.1279C>T, XM_006710798.3:c.1279C>T, XM_006710798.2:c.1279C>T, XM_006710798.1:c.1279C>T, XM_006710799.4:c.1279C>T, XM_006710799.3:c.1279C>T, XM_006710799.2:c.1279C>T, XM_006710799.1:c.1279C>T, XM_006710800.4:c.1279C>T, XM_006710800.3:c.1279C>T, XM_006710800.2:c.1279C>T, XM_006710800.1:c.1279C>T, XM_005271082.4:c.1267C>T, XM_005271082.3:c.1267C>T, XM_005271082.2:c.1267C>T, XM_005271082.1:c.1267C>T, XM_006710801.4:c.1279C>T, XM_006710801.3:c.1279C>T, XM_006710801.2:c.1279C>T, XM_006710801.1:c.1279C>T, XM_011541873.3:c.1279C>T, XM_011541873.2:c.1279C>T, XM_011541873.1:c.1279C>T, XM_017001942.3:c.1249C>T, XM_017001942.2:c.1249C>T, XM_017001942.1:c.1249C>T, XM_017001945.2:c.1267C>T, XM_017001945.1:c.1267C>T, XM_017001944.2:c.1279C>T, XM_017001944.1:c.1279C>T, XM_017001946.2:c.1279C>T, XM_017001946.1:c.1279C>T, XM_047426475.1:c.1237C>T, XM_047426483.1:c.1237C>T, XM_047426486.1:c.1237C>T, XM_047426492.1:c.1279C>T, XM_047426501.1:c.1279C>T, XM_047426504.1:c.1279C>T, XM_047426493.1:c.1267C>T, XM_047426507.1:c.1267C>T, XM_047426512.1:c.1279C>T, XM_047426514.1:c.1267C>T, XM_047426519.1:c.1237C>T, NP_002831.2:p.Arg423Cys, NP_569707.2:p.Arg423Cys, NP_001316067.1:p.Arg433Cys, NP_001316066.1:p.Arg429Cys, NP_001316068.1:p.Arg423Cys, NP_001316069.1:p.Arg423Cys, XP_011540173.1:p.Arg427Cys, XP_011540174.1:p.Arg427Cys, XP_006710858.1:p.Arg427Cys, XP_005271136.1:p.Arg427Cys, XP_005271137.1:p.Arg423Cys, XP_006710859.1:p.Arg427Cys, XP_006710860.1:p.Arg427Cys, XP_005271138.1:p.Arg423Cys, XP_006710861.1:p.Arg427Cys, XP_006710862.1:p.Arg427Cys, XP_006710863.1:p.Arg427Cys, XP_005271139.1:p.Arg423Cys, XP_006710864.1:p.Arg427Cys, XP_011540175.1:p.Arg427Cys, XP_016857431.1:p.Arg417Cys, XP_016857434.1:p.Arg423Cys, XP_016857433.1:p.Arg427Cys, XP_016857435.1:p.Arg427Cys, XP_047282431.1:p.Arg413Cys, XP_047282439.1:p.Arg413Cys, XP_047282442.1:p.Arg413Cys, XP_047282448.1:p.Arg427Cys, XP_047282457.1:p.Arg427Cys, XP_047282460.1:p.Arg427Cys, XP_047282449.1:p.Arg423Cys, XP_047282463.1:p.Arg423Cys, XP_047282468.1:p.Arg427Cys, XP_047282470.1:p.Arg423Cys, XP_047282475.1:p.Arg413Cys

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...