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Items: 1 to 20 of 478

1.

rs1488907517 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    8:47701986 (GRCh38)
    8:48614548 (GRCh37)
    Canonical SPDI:
    NC_000008.11:47701985:T:C
    Gene:
    SPIDR (Varview)
    Functional Consequence:
    missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (GnomAD_exomes)
    C=0.000004/1 (TOPMED)
    C=0.000007/1 (GnomAD)
    HGVS:
    NC_000008.11:g.47701986T>C, NC_000008.10:g.48614548T>C, XM_011517497.4:c.1948T>C, XM_011517497.3:c.1948T>C, XM_011517497.2:c.1948T>C, XM_011517497.1:c.1948T>C, NM_001080394.4:c.1948T>C, NM_001080394.3:c.1948T>C, NM_001080394.2:c.1948T>C, XM_017013271.3:c.1768T>C, XM_017013271.2:c.1768T>C, XM_017013271.1:c.1768T>C, XM_017013268.3:c.1948T>C, XM_017013268.2:c.1948T>C, XM_017013268.1:c.1948T>C, XM_017013270.3:c.1828T>C, XM_017013270.2:c.1828T>C, XM_017013270.1:c.1828T>C, XM_017013273.2:c.1477T>C, XM_017013273.1:c.1477T>C, XM_047421640.1:c.1768T>C, NR_148202.1:n.2151T>C, NM_001352949.1:c.1291T>C, NM_001352958.1:c.700T>C, NM_001352931.1:c.1948T>C, XM_047421644.1:c.1828T>C, NR_148204.1:n.2024T>C, NM_001352935.1:c.1738T>C, NM_001282919.1:c.1768T>C, NM_001352933.1:c.1768T>C, NM_001282916.1:c.1738T>C, XM_047421642.1:c.1828T>C, NR_148205.1:n.2029T>C, XM_047421646.1:c.1450T>C, NM_001352932.1:c.1828T>C, XM_047421645.1:c.1456T>C, NR_148203.1:n.1992T>C, XM_047421647.1:c.1291T>C, NM_001352940.1:c.1456T>C, NM_001352934.1:c.1948T>C, NM_001352951.1:c.1198T>C, NM_001352938.1:c.1456T>C, NM_001352937.1:c.1768T>C, NM_001352942.1:c.1291T>C, NM_001352939.1:c.1456T>C, NM_001352947.1:c.1198T>C, NM_001352948.1:c.1198T>C, NM_001352961.1:c.1948T>C, NM_001352946.1:c.1198T>C, NM_001352936.1:c.1738T>C, NM_001352950.1:c.1456T>C, NM_001352955.1:c.1015T>C, XM_047421648.1:c.1198T>C, NM_001352952.1:c.1015T>C, NM_001352953.1:c.1015T>C, NM_001352943.1:c.1456T>C, NM_001352956.1:c.1015T>C, NM_001352941.1:c.1432T>C, NM_001352957.1:c.1015T>C, NM_001352945.1:c.1222T>C, XM_047421649.1:c.1015T>C, NR_104581.1:n.1426T>C, XM_047421639.1:c.1948T>C, XM_047421651.1:c.700T>C, NM_001352944.1:c.1432T>C, XM_047421652.1:c.700T>C, NM_001352960.1:c.373T>C, NM_001352959.1:c.463T>C, XP_011515799.1:p.Tyr650His, NP_001073863.1:p.Tyr650His, XP_016868760.1:p.Tyr590His, XP_016868757.1:p.Tyr650His, XP_016868759.1:p.Tyr610His, XP_016868762.1:p.Tyr493His, XP_047277596.1:p.Tyr590His, NP_001339878.1:p.Tyr431His, NP_001339887.1:p.Tyr234His, NP_001339860.1:p.Tyr650His, XP_047277600.1:p.Tyr610His, NP_001339864.1:p.Tyr580His, NP_001269848.1:p.Tyr590His, NP_001339862.1:p.Tyr590His, NP_001269845.1:p.Tyr580His, XP_047277598.1:p.Tyr610His, XP_047277602.1:p.Tyr484His, NP_001339861.1:p.Tyr610His, XP_047277601.1:p.Tyr486His, XP_047277603.1:p.Tyr431His, NP_001339869.1:p.Tyr486His, NP_001339863.1:p.Tyr650His, NP_001339880.1:p.Tyr400His, NP_001339867.1:p.Tyr486His, NP_001339866.1:p.Tyr590His, NP_001339871.1:p.Tyr431His, NP_001339868.1:p.Tyr486His, NP_001339876.1:p.Tyr400His, NP_001339877.1:p.Tyr400His, NP_001339890.1:p.Tyr650His, NP_001339875.1:p.Tyr400His, NP_001339865.1:p.Tyr580His, NP_001339879.1:p.Tyr486His, NP_001339884.1:p.Tyr339His, XP_047277604.1:p.Tyr400His, NP_001339881.1:p.Tyr339His, NP_001339882.1:p.Tyr339His, NP_001339872.1:p.Tyr486His, NP_001339885.1:p.Tyr339His, NP_001339870.1:p.Tyr478His, NP_001339886.1:p.Tyr339His, NP_001339874.1:p.Tyr408His, XP_047277605.1:p.Tyr339His, XP_047277595.1:p.Tyr650His, XP_047277607.1:p.Tyr234His, NP_001339873.1:p.Tyr478His, XP_047277608.1:p.Tyr234His, NP_001339889.1:p.Tyr125His, NP_001339888.1:p.Tyr155His

    2.

    rs1487867197 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      8:47713524 (GRCh38)
      8:48626086 (GRCh37)
      Canonical SPDI:
      NC_000008.11:47713523:C:T
      Gene:
      SPIDR (Varview)
      Functional Consequence:
      missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
      HGVS:
      NC_000008.11:g.47713524C>T, NC_000008.10:g.48626086C>T, XM_011517497.4:c.2224C>T, XM_011517497.3:c.2224C>T, XM_011517497.2:c.2224C>T, XM_011517497.1:c.2224C>T, NM_001080394.4:c.2224C>T, NM_001080394.3:c.2224C>T, NM_001080394.2:c.2224C>T, XM_017013271.3:c.2044C>T, XM_017013271.2:c.2044C>T, XM_017013271.1:c.2044C>T, XM_017013268.3:c.2224C>T, XM_017013268.2:c.2224C>T, XM_017013268.1:c.2224C>T, XM_017013269.3:c.2164C>T, XM_017013269.2:c.2164C>T, XM_017013269.1:c.2164C>T, XM_017013270.3:c.2104C>T, XM_017013270.2:c.2104C>T, XM_017013270.1:c.2104C>T, XM_017013273.2:c.1753C>T, XM_017013273.1:c.1753C>T, XM_047421640.1:c.2044C>T, XM_047421638.1:c.2164C>T, NR_148202.1:n.2427C>T, NM_001352949.1:c.1567C>T, NM_001352958.1:c.976C>T, XM_047421643.1:c.2164C>T, NM_001352931.1:c.2224C>T, XM_047421644.1:c.2104C>T, NR_148204.1:n.2300C>T, NM_001352935.1:c.2014C>T, XM_047421641.1:c.2164C>T, NM_001282919.1:c.2044C>T, NM_001352933.1:c.2044C>T, NM_001282916.1:c.2014C>T, XM_047421642.1:c.2104C>T, NR_148205.1:n.2305C>T, XM_047421646.1:c.1726C>T, NM_001352932.1:c.2104C>T, XM_047421645.1:c.1732C>T, NR_148203.1:n.2268C>T, XM_047421647.1:c.1567C>T, NM_001352940.1:c.1732C>T, NM_001352934.1:c.2224C>T, NM_001352951.1:c.1474C>T, NM_001352938.1:c.1732C>T, NM_001352937.1:c.2044C>T, NM_001352942.1:c.1567C>T, NM_001352939.1:c.1732C>T, NM_001352947.1:c.1474C>T, NM_001352948.1:c.1474C>T, NM_001352961.1:c.2224C>T, NM_001352946.1:c.1474C>T, NM_001352936.1:c.2014C>T, NM_001352950.1:c.1732C>T, NM_001352955.1:c.1291C>T, XM_047421648.1:c.1474C>T, NM_001352952.1:c.1291C>T, NM_001352953.1:c.1291C>T, NM_001352943.1:c.1732C>T, NM_001352956.1:c.1291C>T, NM_001352941.1:c.1708C>T, NM_001352957.1:c.1291C>T, NM_001352945.1:c.1498C>T, XM_047421649.1:c.1291C>T, NR_104581.1:n.1702C>T, XM_047421639.1:c.2224C>T, XM_047421651.1:c.976C>T, NM_001352944.1:c.1708C>T, XM_047421650.1:c.*626C>T, XM_047421652.1:c.976C>T, NM_001352960.1:c.649C>T, NM_001352959.1:c.739C>T, XP_011515799.1:p.Leu742Phe, NP_001073863.1:p.Leu742Phe, XP_016868760.1:p.Leu682Phe, XP_016868757.1:p.Leu742Phe, XP_016868758.1:p.Leu722Phe, XP_016868759.1:p.Leu702Phe, XP_016868762.1:p.Leu585Phe, XP_047277596.1:p.Leu682Phe, XP_047277594.1:p.Leu722Phe, NP_001339878.1:p.Leu523Phe, NP_001339887.1:p.Leu326Phe, XP_047277599.1:p.Leu722Phe, NP_001339860.1:p.Leu742Phe, XP_047277600.1:p.Leu702Phe, NP_001339864.1:p.Leu672Phe, XP_047277597.1:p.Leu722Phe, NP_001269848.1:p.Leu682Phe, NP_001339862.1:p.Leu682Phe, NP_001269845.1:p.Leu672Phe, XP_047277598.1:p.Leu702Phe, XP_047277602.1:p.Leu576Phe, NP_001339861.1:p.Leu702Phe, XP_047277601.1:p.Leu578Phe, XP_047277603.1:p.Leu523Phe, NP_001339869.1:p.Leu578Phe, NP_001339863.1:p.Leu742Phe, NP_001339880.1:p.Leu492Phe, NP_001339867.1:p.Leu578Phe, NP_001339866.1:p.Leu682Phe, NP_001339871.1:p.Leu523Phe, NP_001339868.1:p.Leu578Phe, NP_001339876.1:p.Leu492Phe, NP_001339877.1:p.Leu492Phe, NP_001339890.1:p.Leu742Phe, NP_001339875.1:p.Leu492Phe, NP_001339865.1:p.Leu672Phe, NP_001339879.1:p.Leu578Phe, NP_001339884.1:p.Leu431Phe, XP_047277604.1:p.Leu492Phe, NP_001339881.1:p.Leu431Phe, NP_001339882.1:p.Leu431Phe, NP_001339872.1:p.Leu578Phe, NP_001339885.1:p.Leu431Phe, NP_001339870.1:p.Leu570Phe, NP_001339886.1:p.Leu431Phe, NP_001339874.1:p.Leu500Phe, XP_047277605.1:p.Leu431Phe, XP_047277595.1:p.Leu742Phe, XP_047277607.1:p.Leu326Phe, NP_001339873.1:p.Leu570Phe, XP_047277608.1:p.Leu326Phe, NP_001339889.1:p.Leu217Phe, NP_001339888.1:p.Leu247Phe

      3.

      rs1482246223 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C,G [Show Flanks]
        Chromosome:
        8:47727231 (GRCh38)
        8:48639793 (GRCh37)
        Canonical SPDI:
        NC_000008.11:47727230:T:C,NC_000008.11:47727230:T:G
        Gene:
        SPIDR (Varview)
        Functional Consequence:
        synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
        Validated:
        by frequency,by cluster
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000008.11:g.47727231T>C, NC_000008.11:g.47727231T>G, NC_000008.10:g.48639793T>C, NC_000008.10:g.48639793T>G, XM_011517497.4:c.2373T>C, XM_011517497.4:c.2373T>G, XM_011517497.3:c.2373T>C, XM_011517497.3:c.2373T>G, XM_011517497.2:c.2373T>C, XM_011517497.2:c.2373T>G, XM_011517497.1:c.2373T>C, XM_011517497.1:c.2373T>G, NM_001080394.4:c.2373T>C, NM_001080394.4:c.2373T>G, NM_001080394.3:c.2373T>C, NM_001080394.3:c.2373T>G, NM_001080394.2:c.2373T>C, NM_001080394.2:c.2373T>G, XM_017013271.3:c.2193T>C, XM_017013271.3:c.2193T>G, XM_017013271.2:c.2193T>C, XM_017013271.2:c.2193T>G, XM_017013271.1:c.2193T>C, XM_017013271.1:c.2193T>G, XM_017013268.3:c.2373T>C, XM_017013268.3:c.2373T>G, XM_017013268.2:c.2373T>C, XM_017013268.2:c.2373T>G, XM_017013268.1:c.2373T>C, XM_017013268.1:c.2373T>G, XM_017013269.3:c.2313T>C, XM_017013269.3:c.2313T>G, XM_017013269.2:c.2313T>C, XM_017013269.2:c.2313T>G, XM_017013269.1:c.2313T>C, XM_017013269.1:c.2313T>G, XM_017013270.3:c.2253T>C, XM_017013270.3:c.2253T>G, XM_017013270.2:c.2253T>C, XM_017013270.2:c.2253T>G, XM_017013270.1:c.2253T>C, XM_017013270.1:c.2253T>G, XM_017013273.2:c.1902T>C, XM_017013273.2:c.1902T>G, XM_017013273.1:c.1902T>C, XM_017013273.1:c.1902T>G, XM_047421640.1:c.2193T>C, XM_047421640.1:c.2193T>G, XM_047421638.1:c.2313T>C, XM_047421638.1:c.2313T>G, NR_148202.1:n.2576T>C, NR_148202.1:n.2576T>G, NM_001352949.1:c.1716T>C, NM_001352949.1:c.1716T>G, NM_001352958.1:c.1125T>C, NM_001352958.1:c.1125T>G, XM_047421643.1:c.2313T>C, XM_047421643.1:c.2313T>G, NM_001352931.1:c.2373T>C, NM_001352931.1:c.2373T>G, XM_047421644.1:c.2253T>C, XM_047421644.1:c.2253T>G, NR_148204.1:n.2449T>C, NR_148204.1:n.2449T>G, NM_001352935.1:c.2163T>C, NM_001352935.1:c.2163T>G, NM_001282919.1:c.2193T>C, NM_001282919.1:c.2193T>G, NM_001352933.1:c.2193T>C, NM_001352933.1:c.2193T>G, NM_001282916.1:c.2163T>C, NM_001282916.1:c.2163T>G, XM_047421646.1:c.1875T>C, XM_047421646.1:c.1875T>G, NM_001352932.1:c.2253T>C, NM_001352932.1:c.2253T>G, XM_047421645.1:c.1881T>C, XM_047421645.1:c.1881T>G, XM_047421647.1:c.1716T>C, XM_047421647.1:c.1716T>G, NM_001352940.1:c.1881T>C, NM_001352940.1:c.1881T>G, NM_001352934.1:c.2373T>C, NM_001352934.1:c.2373T>G, NM_001352951.1:c.1623T>C, NM_001352951.1:c.1623T>G, NM_001352938.1:c.1881T>C, NM_001352938.1:c.1881T>G, NM_001352937.1:c.2193T>C, NM_001352937.1:c.2193T>G, NM_001352942.1:c.1716T>C, NM_001352942.1:c.1716T>G, NM_001352939.1:c.1881T>C, NM_001352939.1:c.1881T>G, NM_001352947.1:c.1623T>C, NM_001352947.1:c.1623T>G, NM_001352948.1:c.1623T>C, NM_001352948.1:c.1623T>G, NM_001352946.1:c.1623T>C, NM_001352946.1:c.1623T>G, NM_001352950.1:c.1881T>C, NM_001352950.1:c.1881T>G, NM_001352955.1:c.1440T>C, NM_001352955.1:c.1440T>G, XM_047421648.1:c.1623T>C, XM_047421648.1:c.1623T>G, NM_001352952.1:c.1440T>C, NM_001352952.1:c.1440T>G, NM_001352953.1:c.1440T>C, NM_001352953.1:c.1440T>G, NM_001352956.1:c.1440T>C, NM_001352956.1:c.1440T>G, NM_001352941.1:c.1857T>C, NM_001352941.1:c.1857T>G, NM_001352957.1:c.1440T>C, NM_001352957.1:c.1440T>G, NM_001352945.1:c.1647T>C, NM_001352945.1:c.1647T>G, XM_047421649.1:c.1440T>C, XM_047421649.1:c.1440T>G, NR_104581.1:n.1851T>C, NR_104581.1:n.1851T>G, XM_047421639.1:c.2373T>C, XM_047421639.1:c.2373T>G, XM_047421651.1:c.1125T>C, XM_047421651.1:c.1125T>G, XM_047421652.1:c.1125T>C, XM_047421652.1:c.1125T>G, NM_001352960.1:c.798T>C, NM_001352960.1:c.798T>G, NM_001352959.1:c.888T>C, NM_001352959.1:c.888T>G

        4.

        rs1480241119 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          8:47713517 (GRCh38)
          8:48626079 (GRCh37)
          Canonical SPDI:
          NC_000008.11:47713516:C:T
          Gene:
          SPIDR (Varview)
          Functional Consequence:
          3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
          Validated:
          by frequency
          MAF:
          T=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000008.11:g.47713517C>T, NC_000008.10:g.48626079C>T, XM_011517497.4:c.2217C>T, XM_011517497.3:c.2217C>T, XM_011517497.2:c.2217C>T, XM_011517497.1:c.2217C>T, NM_001080394.4:c.2217C>T, NM_001080394.3:c.2217C>T, NM_001080394.2:c.2217C>T, XM_017013271.3:c.2037C>T, XM_017013271.2:c.2037C>T, XM_017013271.1:c.2037C>T, XM_017013268.3:c.2217C>T, XM_017013268.2:c.2217C>T, XM_017013268.1:c.2217C>T, XM_017013269.3:c.2157C>T, XM_017013269.2:c.2157C>T, XM_017013269.1:c.2157C>T, XM_017013270.3:c.2097C>T, XM_017013270.2:c.2097C>T, XM_017013270.1:c.2097C>T, XM_017013273.2:c.1746C>T, XM_017013273.1:c.1746C>T, XM_047421640.1:c.2037C>T, XM_047421638.1:c.2157C>T, NR_148202.1:n.2420C>T, NM_001352949.1:c.1560C>T, NM_001352958.1:c.969C>T, XM_047421643.1:c.2157C>T, NM_001352931.1:c.2217C>T, XM_047421644.1:c.2097C>T, NR_148204.1:n.2293C>T, NM_001352935.1:c.2007C>T, XM_047421641.1:c.2157C>T, NM_001282919.1:c.2037C>T, NM_001352933.1:c.2037C>T, NM_001282916.1:c.2007C>T, XM_047421642.1:c.2097C>T, NR_148205.1:n.2298C>T, XM_047421646.1:c.1719C>T, NM_001352932.1:c.2097C>T, XM_047421645.1:c.1725C>T, NR_148203.1:n.2261C>T, XM_047421647.1:c.1560C>T, NM_001352940.1:c.1725C>T, NM_001352934.1:c.2217C>T, NM_001352951.1:c.1467C>T, NM_001352938.1:c.1725C>T, NM_001352937.1:c.2037C>T, NM_001352942.1:c.1560C>T, NM_001352939.1:c.1725C>T, NM_001352947.1:c.1467C>T, NM_001352948.1:c.1467C>T, NM_001352961.1:c.2217C>T, NM_001352946.1:c.1467C>T, NM_001352936.1:c.2007C>T, NM_001352950.1:c.1725C>T, NM_001352955.1:c.1284C>T, XM_047421648.1:c.1467C>T, NM_001352952.1:c.1284C>T, NM_001352953.1:c.1284C>T, NM_001352943.1:c.1725C>T, NM_001352956.1:c.1284C>T, NM_001352941.1:c.1701C>T, NM_001352957.1:c.1284C>T, NM_001352945.1:c.1491C>T, XM_047421649.1:c.1284C>T, NR_104581.1:n.1695C>T, XM_047421639.1:c.2217C>T, XM_047421651.1:c.969C>T, NM_001352944.1:c.1701C>T, XM_047421650.1:c.*619C>T, XM_047421652.1:c.969C>T, NM_001352960.1:c.642C>T, NM_001352959.1:c.732C>T

          5.

          rs1478297988 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            8:47713528 (GRCh38)
            8:48626090 (GRCh37)
            Canonical SPDI:
            NC_000008.11:47713527:A:G
            Gene:
            SPIDR (Varview)
            Functional Consequence:
            3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
            Validated:
            by frequency
            MAF:
            G=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000008.11:g.47713528A>G, NC_000008.10:g.48626090A>G, XM_011517497.4:c.2228A>G, XM_011517497.3:c.2228A>G, XM_011517497.2:c.2228A>G, XM_011517497.1:c.2228A>G, NM_001080394.4:c.2228A>G, NM_001080394.3:c.2228A>G, NM_001080394.2:c.2228A>G, XM_017013271.3:c.2048A>G, XM_017013271.2:c.2048A>G, XM_017013271.1:c.2048A>G, XM_017013268.3:c.2228A>G, XM_017013268.2:c.2228A>G, XM_017013268.1:c.2228A>G, XM_017013269.3:c.2168A>G, XM_017013269.2:c.2168A>G, XM_017013269.1:c.2168A>G, XM_017013270.3:c.2108A>G, XM_017013270.2:c.2108A>G, XM_017013270.1:c.2108A>G, XM_017013273.2:c.1757A>G, XM_017013273.1:c.1757A>G, XM_047421640.1:c.2048A>G, XM_047421638.1:c.2168A>G, NR_148202.1:n.2431A>G, NM_001352949.1:c.1571A>G, NM_001352958.1:c.980A>G, XM_047421643.1:c.2168A>G, NM_001352931.1:c.2228A>G, XM_047421644.1:c.2108A>G, NR_148204.1:n.2304A>G, NM_001352935.1:c.2018A>G, XM_047421641.1:c.2168A>G, NM_001282919.1:c.2048A>G, NM_001352933.1:c.2048A>G, NM_001282916.1:c.2018A>G, XM_047421642.1:c.2108A>G, NR_148205.1:n.2309A>G, XM_047421646.1:c.1730A>G, NM_001352932.1:c.2108A>G, XM_047421645.1:c.1736A>G, NR_148203.1:n.2272A>G, XM_047421647.1:c.1571A>G, NM_001352940.1:c.1736A>G, NM_001352934.1:c.2228A>G, NM_001352951.1:c.1478A>G, NM_001352938.1:c.1736A>G, NM_001352937.1:c.2048A>G, NM_001352942.1:c.1571A>G, NM_001352939.1:c.1736A>G, NM_001352947.1:c.1478A>G, NM_001352948.1:c.1478A>G, NM_001352961.1:c.2228A>G, NM_001352946.1:c.1478A>G, NM_001352936.1:c.2018A>G, NM_001352950.1:c.1736A>G, NM_001352955.1:c.1295A>G, XM_047421648.1:c.1478A>G, NM_001352952.1:c.1295A>G, NM_001352953.1:c.1295A>G, NM_001352943.1:c.1736A>G, NM_001352956.1:c.1295A>G, NM_001352941.1:c.1712A>G, NM_001352957.1:c.1295A>G, NM_001352945.1:c.1502A>G, XM_047421649.1:c.1295A>G, NR_104581.1:n.1706A>G, XM_047421639.1:c.2228A>G, XM_047421651.1:c.980A>G, NM_001352944.1:c.1712A>G, XM_047421650.1:c.*630A>G, XM_047421652.1:c.980A>G, NM_001352960.1:c.653A>G, NM_001352959.1:c.743A>G, XP_011515799.1:p.Gln743Arg, NP_001073863.1:p.Gln743Arg, XP_016868760.1:p.Gln683Arg, XP_016868757.1:p.Gln743Arg, XP_016868758.1:p.Gln723Arg, XP_016868759.1:p.Gln703Arg, XP_016868762.1:p.Gln586Arg, XP_047277596.1:p.Gln683Arg, XP_047277594.1:p.Gln723Arg, NP_001339878.1:p.Gln524Arg, NP_001339887.1:p.Gln327Arg, XP_047277599.1:p.Gln723Arg, NP_001339860.1:p.Gln743Arg, XP_047277600.1:p.Gln703Arg, NP_001339864.1:p.Gln673Arg, XP_047277597.1:p.Gln723Arg, NP_001269848.1:p.Gln683Arg, NP_001339862.1:p.Gln683Arg, NP_001269845.1:p.Gln673Arg, XP_047277598.1:p.Gln703Arg, XP_047277602.1:p.Gln577Arg, NP_001339861.1:p.Gln703Arg, XP_047277601.1:p.Gln579Arg, XP_047277603.1:p.Gln524Arg, NP_001339869.1:p.Gln579Arg, NP_001339863.1:p.Gln743Arg, NP_001339880.1:p.Gln493Arg, NP_001339867.1:p.Gln579Arg, NP_001339866.1:p.Gln683Arg, NP_001339871.1:p.Gln524Arg, NP_001339868.1:p.Gln579Arg, NP_001339876.1:p.Gln493Arg, NP_001339877.1:p.Gln493Arg, NP_001339890.1:p.Gln743Arg, NP_001339875.1:p.Gln493Arg, NP_001339865.1:p.Gln673Arg, NP_001339879.1:p.Gln579Arg, NP_001339884.1:p.Gln432Arg, XP_047277604.1:p.Gln493Arg, NP_001339881.1:p.Gln432Arg, NP_001339882.1:p.Gln432Arg, NP_001339872.1:p.Gln579Arg, NP_001339885.1:p.Gln432Arg, NP_001339870.1:p.Gln571Arg, NP_001339886.1:p.Gln432Arg, NP_001339874.1:p.Gln501Arg, XP_047277605.1:p.Gln432Arg, XP_047277595.1:p.Gln743Arg, XP_047277607.1:p.Gln327Arg, NP_001339873.1:p.Gln571Arg, XP_047277608.1:p.Gln327Arg, NP_001339889.1:p.Gln218Arg, NP_001339888.1:p.Gln248Arg

            6.

            rs1478282454 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              8:47654121 (GRCh38)
              8:48566683 (GRCh37)
              Canonical SPDI:
              NC_000008.11:47654120:T:C
              Gene:
              SPIDR (Varview)
              Functional Consequence:
              synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000007/1 (GnomAD)
              C=0.000008/2 (TOPMED)
              HGVS:

              7.

              rs1476308788 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G [Show Flanks]
                Chromosome:
                8:47713512 (GRCh38)
                8:48626074 (GRCh37)
                Canonical SPDI:
                NC_000008.11:47713511:A:G
                Gene:
                SPIDR (Varview)
                Functional Consequence:
                3_prime_UTR_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                G=0./0 (ALFA)
                G=0.000007/1 (GnomAD)
                G=0.000008/2 (TOPMED)
                HGVS:
                NC_000008.11:g.47713512A>G, NC_000008.10:g.48626074A>G, XM_011517497.4:c.2212A>G, XM_011517497.3:c.2212A>G, XM_011517497.2:c.2212A>G, XM_011517497.1:c.2212A>G, NM_001080394.4:c.2212A>G, NM_001080394.3:c.2212A>G, NM_001080394.2:c.2212A>G, XM_017013271.3:c.2032A>G, XM_017013271.2:c.2032A>G, XM_017013271.1:c.2032A>G, XM_017013268.3:c.2212A>G, XM_017013268.2:c.2212A>G, XM_017013268.1:c.2212A>G, XM_017013269.3:c.2152A>G, XM_017013269.2:c.2152A>G, XM_017013269.1:c.2152A>G, XM_017013270.3:c.2092A>G, XM_017013270.2:c.2092A>G, XM_017013270.1:c.2092A>G, XM_017013273.2:c.1741A>G, XM_017013273.1:c.1741A>G, XM_047421640.1:c.2032A>G, XM_047421638.1:c.2152A>G, NR_148202.1:n.2415A>G, NM_001352949.1:c.1555A>G, NM_001352958.1:c.964A>G, XM_047421643.1:c.2152A>G, NM_001352931.1:c.2212A>G, XM_047421644.1:c.2092A>G, NR_148204.1:n.2288A>G, NM_001352935.1:c.2002A>G, XM_047421641.1:c.2152A>G, NM_001282919.1:c.2032A>G, NM_001352933.1:c.2032A>G, NM_001282916.1:c.2002A>G, XM_047421642.1:c.2092A>G, NR_148205.1:n.2293A>G, XM_047421646.1:c.1714A>G, NM_001352932.1:c.2092A>G, XM_047421645.1:c.1720A>G, NR_148203.1:n.2256A>G, XM_047421647.1:c.1555A>G, NM_001352940.1:c.1720A>G, NM_001352934.1:c.2212A>G, NM_001352951.1:c.1462A>G, NM_001352938.1:c.1720A>G, NM_001352937.1:c.2032A>G, NM_001352942.1:c.1555A>G, NM_001352939.1:c.1720A>G, NM_001352947.1:c.1462A>G, NM_001352948.1:c.1462A>G, NM_001352961.1:c.2212A>G, NM_001352946.1:c.1462A>G, NM_001352936.1:c.2002A>G, NM_001352950.1:c.1720A>G, NM_001352955.1:c.1279A>G, XM_047421648.1:c.1462A>G, NM_001352952.1:c.1279A>G, NM_001352953.1:c.1279A>G, NM_001352943.1:c.1720A>G, NM_001352956.1:c.1279A>G, NM_001352941.1:c.1696A>G, NM_001352957.1:c.1279A>G, NM_001352945.1:c.1486A>G, XM_047421649.1:c.1279A>G, NR_104581.1:n.1690A>G, XM_047421639.1:c.2212A>G, XM_047421651.1:c.964A>G, NM_001352944.1:c.1696A>G, XM_047421650.1:c.*614A>G, XM_047421652.1:c.964A>G, NM_001352960.1:c.637A>G, NM_001352959.1:c.727A>G, XP_011515799.1:p.Thr738Ala, NP_001073863.1:p.Thr738Ala, XP_016868760.1:p.Thr678Ala, XP_016868757.1:p.Thr738Ala, XP_016868758.1:p.Thr718Ala, XP_016868759.1:p.Thr698Ala, XP_016868762.1:p.Thr581Ala, XP_047277596.1:p.Thr678Ala, XP_047277594.1:p.Thr718Ala, NP_001339878.1:p.Thr519Ala, NP_001339887.1:p.Thr322Ala, XP_047277599.1:p.Thr718Ala, NP_001339860.1:p.Thr738Ala, XP_047277600.1:p.Thr698Ala, NP_001339864.1:p.Thr668Ala, XP_047277597.1:p.Thr718Ala, NP_001269848.1:p.Thr678Ala, NP_001339862.1:p.Thr678Ala, NP_001269845.1:p.Thr668Ala, XP_047277598.1:p.Thr698Ala, XP_047277602.1:p.Thr572Ala, NP_001339861.1:p.Thr698Ala, XP_047277601.1:p.Thr574Ala, XP_047277603.1:p.Thr519Ala, NP_001339869.1:p.Thr574Ala, NP_001339863.1:p.Thr738Ala, NP_001339880.1:p.Thr488Ala, NP_001339867.1:p.Thr574Ala, NP_001339866.1:p.Thr678Ala, NP_001339871.1:p.Thr519Ala, NP_001339868.1:p.Thr574Ala, NP_001339876.1:p.Thr488Ala, NP_001339877.1:p.Thr488Ala, NP_001339890.1:p.Thr738Ala, NP_001339875.1:p.Thr488Ala, NP_001339865.1:p.Thr668Ala, NP_001339879.1:p.Thr574Ala, NP_001339884.1:p.Thr427Ala, XP_047277604.1:p.Thr488Ala, NP_001339881.1:p.Thr427Ala, NP_001339882.1:p.Thr427Ala, NP_001339872.1:p.Thr574Ala, NP_001339885.1:p.Thr427Ala, NP_001339870.1:p.Thr566Ala, NP_001339886.1:p.Thr427Ala, NP_001339874.1:p.Thr496Ala, XP_047277605.1:p.Thr427Ala, XP_047277595.1:p.Thr738Ala, XP_047277607.1:p.Thr322Ala, NP_001339873.1:p.Thr566Ala, XP_047277608.1:p.Thr322Ala, NP_001339889.1:p.Thr213Ala, NP_001339888.1:p.Thr243Ala

                8.

                rs1460601981 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  ->T [Show Flanks]
                  Chromosome:
                  8:47701721 (GRCh38)
                  8:48614284 (GRCh37)
                  Canonical SPDI:
                  NC_000008.11:47701721:T:TT
                  Gene:
                  SPIDR (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
                  Validated:
                  by frequency
                  MAF:
                  T=0.000008/2 (GnomAD_exomes)
                  HGVS:
                  NC_000008.11:g.47701722dup, NC_000008.10:g.48614284dup, XM_011517497.4:c.1775dup, XM_011517497.3:c.1775dup, XM_011517497.2:c.1775dup, XM_011517497.1:c.1775dup, NM_001080394.4:c.1775dup, NM_001080394.3:c.1775dup, NM_001080394.2:c.1775dup, XM_017013271.3:c.1595dup, XM_017013271.2:c.1595dup, XM_017013271.1:c.1595dup, XM_017013268.3:c.1775dup, XM_017013268.2:c.1775dup, XM_017013268.1:c.1775dup, XM_017013269.3:c.1775dup, XM_017013269.2:c.1775dup, XM_017013269.1:c.1775dup, XM_017013270.3:c.1655dup, XM_017013270.2:c.1655dup, XM_017013270.1:c.1655dup, XM_017013273.2:c.1304dup, XM_017013273.1:c.1304dup, XM_047421640.1:c.1595dup, XM_047421638.1:c.1775dup, NR_148202.1:n.1978dup, NM_001352949.1:c.1118dup, NM_001352958.1:c.527dup, XM_047421643.1:c.1775dup, NM_001352931.1:c.1775dup, XM_047421644.1:c.1655dup, NR_148204.1:n.1851dup, NM_001352935.1:c.1565dup, XM_047421641.1:c.1775dup, NM_001282919.1:c.1595dup, NM_001352933.1:c.1595dup, NM_001282916.1:c.1565dup, XM_047421642.1:c.1655dup, NR_148205.1:n.1856dup, XM_047421646.1:c.1277dup, NM_001352932.1:c.1655dup, XM_047421645.1:c.1283dup, NR_148203.1:n.1819dup, XM_047421647.1:c.1118dup, NM_001352940.1:c.1283dup, NM_001352934.1:c.1775dup, NM_001352951.1:c.1025dup, NM_001352938.1:c.1283dup, NM_001352937.1:c.1595dup, NM_001352942.1:c.1118dup, NM_001352939.1:c.1283dup, NM_001352947.1:c.1025dup, NM_001352948.1:c.1025dup, NM_001352961.1:c.1775dup, NM_001352946.1:c.1025dup, NM_001352936.1:c.1565dup, NM_001352950.1:c.1283dup, NM_001352955.1:c.842dup, XM_047421648.1:c.1025dup, NM_001352952.1:c.842dup, NM_001352953.1:c.842dup, NM_001352943.1:c.1283dup, NM_001352956.1:c.842dup, NM_001352941.1:c.1259dup, NM_001352957.1:c.842dup, NM_001352945.1:c.1049dup, XM_047421649.1:c.842dup, NR_104581.1:n.1253dup, XM_047421639.1:c.1775dup, XM_047421651.1:c.527dup, NM_001352944.1:c.1259dup, XM_047421650.1:c.1283dup, XM_047421652.1:c.527dup, NM_001352960.1:c.200dup, NM_001352959.1:c.290dup, XP_011515799.1:p.Thr594fs, NP_001073863.1:p.Thr594fs, XP_016868760.1:p.Thr534fs, XP_016868757.1:p.Thr594fs, XP_016868758.1:p.Thr594fs, XP_016868759.1:p.Thr554fs, XP_016868762.1:p.Thr437fs, XP_047277596.1:p.Thr534fs, XP_047277594.1:p.Thr594fs, NP_001339878.1:p.Thr375fs, NP_001339887.1:p.Thr178fs, XP_047277599.1:p.Thr594fs, NP_001339860.1:p.Thr594fs, XP_047277600.1:p.Thr554fs, NP_001339864.1:p.Thr524fs, XP_047277597.1:p.Thr594fs, NP_001269848.1:p.Thr534fs, NP_001339862.1:p.Thr534fs, NP_001269845.1:p.Thr524fs, XP_047277598.1:p.Thr554fs, XP_047277602.1:p.Thr428fs, NP_001339861.1:p.Thr554fs, XP_047277601.1:p.Thr430fs, XP_047277603.1:p.Thr375fs, NP_001339869.1:p.Thr430fs, NP_001339863.1:p.Thr594fs, NP_001339880.1:p.Thr344fs, NP_001339867.1:p.Thr430fs, NP_001339866.1:p.Thr534fs, NP_001339871.1:p.Thr375fs, NP_001339868.1:p.Thr430fs, NP_001339876.1:p.Thr344fs, NP_001339877.1:p.Thr344fs, NP_001339890.1:p.Thr594fs, NP_001339875.1:p.Thr344fs, NP_001339865.1:p.Thr524fs, NP_001339879.1:p.Thr430fs, NP_001339884.1:p.Thr283fs, XP_047277604.1:p.Thr344fs, NP_001339881.1:p.Thr283fs, NP_001339882.1:p.Thr283fs, NP_001339872.1:p.Thr430fs, NP_001339885.1:p.Thr283fs, NP_001339870.1:p.Thr422fs, NP_001339886.1:p.Thr283fs, NP_001339874.1:p.Thr352fs, XP_047277605.1:p.Thr283fs, XP_047277595.1:p.Thr594fs, XP_047277607.1:p.Thr178fs, NP_001339873.1:p.Thr422fs, XP_047277606.1:p.Thr430fs, XP_047277608.1:p.Thr178fs, NP_001339889.1:p.Thr69fs, NP_001339888.1:p.Thr99fs

                  9.

                  rs1459217086 [Homo sapiens]
                    Variant type:
                    DELINS
                    Alleles:
                    ->G [Show Flanks]
                    Chromosome:
                    8:47735429 (GRCh38)
                    8:48647992 (GRCh37)
                    Canonical SPDI:
                    NC_000008.11:47735429:GGGG:GGGGG
                    Gene:
                    SPIDR (Varview)
                    Functional Consequence:
                    3_prime_UTR_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,frameshift_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    GGGGG=0./0 (ALFA)
                    G=0.000004/1 (TOPMED)
                    HGVS:
                    NC_000008.11:g.47735433dup, NC_000008.10:g.48647995dup, XM_011517497.4:c.*174dup, XM_011517497.3:c.*174dup, XM_011517497.2:c.*174dup, NM_001080394.4:c.2731dup, NM_001080394.3:c.2731dup, NM_001080394.2:c.2731dup, XM_017013271.3:c.2552dup, XM_017013271.2:c.2552dup, XM_017013271.1:c.2552dup, XM_017013268.3:c.2732dup, XM_017013268.2:c.2732dup, XM_017013268.1:c.2732dup, XM_017013269.3:c.2672dup, XM_017013269.2:c.2672dup, XM_017013269.1:c.2672dup, XM_017013270.3:c.2612dup, XM_017013270.2:c.2612dup, XM_017013270.1:c.2612dup, XM_017013273.2:c.2261dup, XM_017013273.1:c.2261dup, XM_047421640.1:c.2551dup, XM_047421638.1:c.2671dup, NR_148202.1:n.2934dup, NM_001352949.1:c.*134dup, NM_001352958.1:c.1483dup, XM_047421643.1:c.*114dup, NM_001352931.1:c.*134dup, XM_047421644.1:c.*114dup, NR_148204.1:n.2807dup, NM_001352935.1:c.*134dup, XM_047421641.1:c.2408dup, NM_001282919.1:c.2552dup, NM_001352933.1:c.2551dup, NM_001282916.1:c.2521dup, XM_047421642.1:c.2348dup, NR_148205.1:n.2718dup, XM_047421646.1:c.2234dup, NM_001352932.1:c.2611dup, XM_047421645.1:c.2240dup, NR_148203.1:n.2681dup, XM_047421647.1:c.2075dup, NM_001352940.1:c.2239dup, NM_001352934.1:c.*114dup, NM_001352951.1:c.*134dup, NM_001352938.1:c.2239dup, NM_001352937.1:c.*114dup, NM_001352942.1:c.2074dup, NM_001352939.1:c.2239dup, NM_001352947.1:c.1981dup, NM_001352948.1:c.1981dup, NM_001352961.1:c.2468dup, NM_001352946.1:c.1981dup, NM_001352936.1:c.2258dup, NM_001352950.1:c.*114dup, NM_001352955.1:c.1798dup, XM_047421648.1:c.1982dup, NM_001352952.1:c.1798dup, NM_001352953.1:c.1798dup, NM_001352943.1:c.1976dup, NM_001352956.1:c.1798dup, NM_001352941.1:c.2215dup, NM_001352957.1:c.*114dup, NM_001352945.1:c.2005dup, XM_047421649.1:c.1799dup, NR_104581.1:n.2209dup, XM_047421651.1:c.1484dup, NM_001352944.1:c.1952dup, XM_047421652.1:c.1484dup, NM_001352960.1:c.1156dup, NM_001352959.1:c.1246dup, NP_001073863.1:p.Ala911fs, XP_016868760.1:p.Leu852fs, XP_016868757.1:p.Leu912fs, XP_016868758.1:p.Leu892fs, XP_016868759.1:p.Leu872fs, XP_016868762.1:p.Leu755fs, XP_047277596.1:p.Ala851fs, XP_047277594.1:p.Ala891fs, NP_001339887.1:p.Ala495fs, XP_047277597.1:p.Leu804fs, NP_001269848.1:p.Leu852fs, NP_001339862.1:p.Ala851fs, NP_001269845.1:p.Ala841fs, XP_047277598.1:p.Leu784fs, XP_047277602.1:p.Leu746fs, NP_001339861.1:p.Ala871fs, XP_047277601.1:p.Leu748fs, XP_047277603.1:p.Leu693fs, NP_001339869.1:p.Ala747fs, NP_001339867.1:p.Ala747fs, NP_001339871.1:p.Ala692fs, NP_001339868.1:p.Ala747fs, NP_001339876.1:p.Ala661fs, NP_001339877.1:p.Ala661fs, NP_001339890.1:p.Leu824fs, NP_001339875.1:p.Ala661fs, NP_001339865.1:p.Leu754fs, NP_001339884.1:p.Ala600fs, XP_047277604.1:p.Leu662fs, NP_001339881.1:p.Ala600fs, NP_001339882.1:p.Ala600fs, NP_001339872.1:p.Leu660fs, NP_001339885.1:p.Ala600fs, NP_001339870.1:p.Ala739fs, NP_001339874.1:p.Ala669fs, XP_047277605.1:p.Leu601fs, XP_047277607.1:p.Leu496fs, NP_001339873.1:p.Leu652fs, XP_047277608.1:p.Leu496fs, NP_001339889.1:p.Ala386fs, NP_001339888.1:p.Ala416fs

                    10.

                    rs1457689294 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      8:47729019 (GRCh38)
                      8:48641581 (GRCh37)
                      Canonical SPDI:
                      NC_000008.11:47729018:C:T
                      Gene:
                      SPIDR (Varview)
                      Functional Consequence:
                      intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                      HGVS:
                      NC_000008.11:g.47729019C>T, NC_000008.10:g.48641581C>T, XM_011517497.4:c.2522C>T, XM_011517497.3:c.2522C>T, XM_011517497.2:c.2522C>T, XM_011517497.1:c.2522C>T, NM_001080394.4:c.2522C>T, NM_001080394.3:c.2522C>T, NM_001080394.2:c.2522C>T, XM_017013271.3:c.2342C>T, XM_017013271.2:c.2342C>T, XM_017013271.1:c.2342C>T, XM_017013268.3:c.2522C>T, XM_017013268.2:c.2522C>T, XM_017013268.1:c.2522C>T, XM_017013269.3:c.2462C>T, XM_017013269.2:c.2462C>T, XM_017013269.1:c.2462C>T, XM_017013270.3:c.2402C>T, XM_017013270.2:c.2402C>T, XM_017013270.1:c.2402C>T, XM_017013273.2:c.2051C>T, XM_017013273.1:c.2051C>T, XM_047421640.1:c.2342C>T, XM_047421638.1:c.2462C>T, NR_148202.1:n.2725C>T, NM_001352949.1:c.1865C>T, NM_001352958.1:c.1274C>T, NM_001352931.1:c.2522C>T, NR_148204.1:n.2598C>T, NM_001352935.1:c.2312C>T, NM_001282919.1:c.2342C>T, NM_001352933.1:c.2342C>T, NM_001282916.1:c.2312C>T, NR_148205.1:n.2509C>T, XM_047421646.1:c.2024C>T, NM_001352932.1:c.2402C>T, XM_047421645.1:c.2030C>T, NR_148203.1:n.2472C>T, XM_047421647.1:c.1865C>T, NM_001352940.1:c.2030C>T, NM_001352951.1:c.1772C>T, NM_001352938.1:c.2030C>T, NM_001352942.1:c.1865C>T, NM_001352939.1:c.2030C>T, NM_001352947.1:c.1772C>T, NM_001352948.1:c.1772C>T, NM_001352946.1:c.1772C>T, NM_001352955.1:c.1589C>T, XM_047421648.1:c.1772C>T, NM_001352952.1:c.1589C>T, NM_001352953.1:c.1589C>T, NM_001352956.1:c.1589C>T, NM_001352941.1:c.2006C>T, NM_001352945.1:c.1796C>T, XM_047421649.1:c.1589C>T, NR_104581.1:n.2000C>T, XM_047421639.1:c.2522C>T, XM_047421651.1:c.1274C>T, XM_047421652.1:c.1274C>T, NM_001352960.1:c.947C>T, NM_001352959.1:c.1037C>T, XP_011515799.1:p.Ser841Leu, NP_001073863.1:p.Ser841Leu, XP_016868760.1:p.Ser781Leu, XP_016868757.1:p.Ser841Leu, XP_016868758.1:p.Ser821Leu, XP_016868759.1:p.Ser801Leu, XP_016868762.1:p.Ser684Leu, XP_047277596.1:p.Ser781Leu, XP_047277594.1:p.Ser821Leu, NP_001339878.1:p.Ser622Leu, NP_001339887.1:p.Ser425Leu, NP_001339860.1:p.Ser841Leu, NP_001339864.1:p.Ser771Leu, NP_001269848.1:p.Ser781Leu, NP_001339862.1:p.Ser781Leu, NP_001269845.1:p.Ser771Leu, XP_047277602.1:p.Ser675Leu, NP_001339861.1:p.Ser801Leu, XP_047277601.1:p.Ser677Leu, XP_047277603.1:p.Ser622Leu, NP_001339869.1:p.Ser677Leu, NP_001339880.1:p.Ser591Leu, NP_001339867.1:p.Ser677Leu, NP_001339871.1:p.Ser622Leu, NP_001339868.1:p.Ser677Leu, NP_001339876.1:p.Ser591Leu, NP_001339877.1:p.Ser591Leu, NP_001339875.1:p.Ser591Leu, NP_001339884.1:p.Ser530Leu, XP_047277604.1:p.Ser591Leu, NP_001339881.1:p.Ser530Leu, NP_001339882.1:p.Ser530Leu, NP_001339885.1:p.Ser530Leu, NP_001339870.1:p.Ser669Leu, NP_001339874.1:p.Ser599Leu, XP_047277605.1:p.Ser530Leu, XP_047277595.1:p.Ser841Leu, XP_047277607.1:p.Ser425Leu, XP_047277608.1:p.Ser425Leu, NP_001339889.1:p.Ser316Leu, NP_001339888.1:p.Ser346Leu

                      11.

                      rs1456813998 [Homo sapiens]
                        Variant type:
                        DELINS
                        Alleles:
                        ->C [Show Flanks]
                        Chromosome:
                        8:47713608 (GRCh38)
                        8:48626171 (GRCh37)
                        Canonical SPDI:
                        NC_000008.11:47713608:C:CC
                        Gene:
                        SPIDR (Varview)
                        Functional Consequence:
                        frameshift_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        CC=0./0 (ALFA)
                        C=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000008.11:g.47713609dup, NC_000008.10:g.48626171dup, XM_011517497.4:c.2309dup, XM_011517497.3:c.2309dup, XM_011517497.2:c.2309dup, XM_011517497.1:c.2309dup, NM_001080394.4:c.2309dup, NM_001080394.3:c.2309dup, NM_001080394.2:c.2309dup, XM_017013271.3:c.2129dup, XM_017013271.2:c.2129dup, XM_017013271.1:c.2129dup, XM_017013268.3:c.2309dup, XM_017013268.2:c.2309dup, XM_017013268.1:c.2309dup, XM_017013269.3:c.2249dup, XM_017013269.2:c.2249dup, XM_017013269.1:c.2249dup, XM_017013270.3:c.2189dup, XM_017013270.2:c.2189dup, XM_017013270.1:c.2189dup, XM_017013273.2:c.1838dup, XM_017013273.1:c.1838dup, XM_047421640.1:c.2129dup, XM_047421638.1:c.2249dup, NR_148202.1:n.2512dup, NM_001352949.1:c.1652dup, NM_001352958.1:c.1061dup, XM_047421643.1:c.2249dup, NM_001352931.1:c.2309dup, XM_047421644.1:c.2189dup, NR_148204.1:n.2385dup, NM_001352935.1:c.2099dup, XM_047421641.1:c.2249dup, NM_001282919.1:c.2129dup, NM_001352933.1:c.2129dup, NM_001282916.1:c.2099dup, XM_047421642.1:c.2189dup, NR_148205.1:n.2390dup, XM_047421646.1:c.1811dup, NM_001352932.1:c.2189dup, XM_047421645.1:c.1817dup, NR_148203.1:n.2353dup, XM_047421647.1:c.1652dup, NM_001352940.1:c.1817dup, NM_001352934.1:c.2309dup, NM_001352951.1:c.1559dup, NM_001352938.1:c.1817dup, NM_001352937.1:c.2129dup, NM_001352942.1:c.1652dup, NM_001352939.1:c.1817dup, NM_001352947.1:c.1559dup, NM_001352948.1:c.1559dup, NM_001352961.1:c.2309dup, NM_001352946.1:c.1559dup, NM_001352936.1:c.2099dup, NM_001352950.1:c.1817dup, NM_001352955.1:c.1376dup, XM_047421648.1:c.1559dup, NM_001352952.1:c.1376dup, NM_001352953.1:c.1376dup, NM_001352943.1:c.1817dup, NM_001352956.1:c.1376dup, NM_001352941.1:c.1793dup, NM_001352957.1:c.1376dup, NM_001352945.1:c.1583dup, XM_047421649.1:c.1376dup, NR_104581.1:n.1787dup, XM_047421639.1:c.2309dup, XM_047421651.1:c.1061dup, NM_001352944.1:c.1793dup, XM_047421650.1:c.*711dup, XM_047421652.1:c.1061dup, NM_001352960.1:c.734dup, NM_001352959.1:c.824dup, XP_011515799.1:p.Thr771fs, NP_001073863.1:p.Thr771fs, XP_016868760.1:p.Thr711fs, XP_016868757.1:p.Thr771fs, XP_016868758.1:p.Thr751fs, XP_016868759.1:p.Thr731fs, XP_016868762.1:p.Thr614fs, XP_047277596.1:p.Thr711fs, XP_047277594.1:p.Thr751fs, NP_001339878.1:p.Thr552fs, NP_001339887.1:p.Thr355fs, XP_047277599.1:p.Thr751fs, NP_001339860.1:p.Thr771fs, XP_047277600.1:p.Thr731fs, NP_001339864.1:p.Thr701fs, XP_047277597.1:p.Thr751fs, NP_001269848.1:p.Thr711fs, NP_001339862.1:p.Thr711fs, NP_001269845.1:p.Thr701fs, XP_047277598.1:p.Thr731fs, XP_047277602.1:p.Thr605fs, NP_001339861.1:p.Thr731fs, XP_047277601.1:p.Thr607fs, XP_047277603.1:p.Thr552fs, NP_001339869.1:p.Thr607fs, NP_001339863.1:p.Thr771fs, NP_001339880.1:p.Thr521fs, NP_001339867.1:p.Thr607fs, NP_001339866.1:p.Thr711fs, NP_001339871.1:p.Thr552fs, NP_001339868.1:p.Thr607fs, NP_001339876.1:p.Thr521fs, NP_001339877.1:p.Thr521fs, NP_001339890.1:p.Thr771fs, NP_001339875.1:p.Thr521fs, NP_001339865.1:p.Thr701fs, NP_001339879.1:p.Thr607fs, NP_001339884.1:p.Thr460fs, XP_047277604.1:p.Thr521fs, NP_001339881.1:p.Thr460fs, NP_001339882.1:p.Thr460fs, NP_001339872.1:p.Thr607fs, NP_001339885.1:p.Thr460fs, NP_001339870.1:p.Thr599fs, NP_001339886.1:p.Thr460fs, NP_001339874.1:p.Thr529fs, XP_047277605.1:p.Thr460fs, XP_047277595.1:p.Thr771fs, XP_047277607.1:p.Thr355fs, NP_001339873.1:p.Thr599fs, XP_047277608.1:p.Thr355fs, NP_001339889.1:p.Thr246fs, NP_001339888.1:p.Thr276fs

                        12.

                        rs1456545446 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          8:47729003 (GRCh38)
                          8:48641565 (GRCh37)
                          Canonical SPDI:
                          NC_000008.11:47729002:T:C
                          Gene:
                          SPIDR (Varview)
                          Functional Consequence:
                          intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          C=0.000028/1 (ALFA)
                          C=0.000004/1 (TOPMED)
                          C=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000008.11:g.47729003T>C, NC_000008.10:g.48641565T>C, XM_011517497.4:c.2506T>C, XM_011517497.3:c.2506T>C, XM_011517497.2:c.2506T>C, XM_011517497.1:c.2506T>C, NM_001080394.4:c.2506T>C, NM_001080394.3:c.2506T>C, NM_001080394.2:c.2506T>C, XM_017013271.3:c.2326T>C, XM_017013271.2:c.2326T>C, XM_017013271.1:c.2326T>C, XM_017013268.3:c.2506T>C, XM_017013268.2:c.2506T>C, XM_017013268.1:c.2506T>C, XM_017013269.3:c.2446T>C, XM_017013269.2:c.2446T>C, XM_017013269.1:c.2446T>C, XM_017013270.3:c.2386T>C, XM_017013270.2:c.2386T>C, XM_017013270.1:c.2386T>C, XM_017013273.2:c.2035T>C, XM_017013273.1:c.2035T>C, XM_047421640.1:c.2326T>C, XM_047421638.1:c.2446T>C, NR_148202.1:n.2709T>C, NM_001352949.1:c.1849T>C, NM_001352958.1:c.1258T>C, NM_001352931.1:c.2506T>C, NR_148204.1:n.2582T>C, NM_001352935.1:c.2296T>C, NM_001282919.1:c.2326T>C, NM_001352933.1:c.2326T>C, NM_001282916.1:c.2296T>C, NR_148205.1:n.2493T>C, XM_047421646.1:c.2008T>C, NM_001352932.1:c.2386T>C, XM_047421645.1:c.2014T>C, NR_148203.1:n.2456T>C, XM_047421647.1:c.1849T>C, NM_001352940.1:c.2014T>C, NM_001352951.1:c.1756T>C, NM_001352938.1:c.2014T>C, NM_001352942.1:c.1849T>C, NM_001352939.1:c.2014T>C, NM_001352947.1:c.1756T>C, NM_001352948.1:c.1756T>C, NM_001352946.1:c.1756T>C, NM_001352955.1:c.1573T>C, XM_047421648.1:c.1756T>C, NM_001352952.1:c.1573T>C, NM_001352953.1:c.1573T>C, NM_001352956.1:c.1573T>C, NM_001352941.1:c.1990T>C, NM_001352945.1:c.1780T>C, XM_047421649.1:c.1573T>C, NR_104581.1:n.1984T>C, XM_047421639.1:c.2506T>C, XM_047421651.1:c.1258T>C, XM_047421652.1:c.1258T>C, NM_001352960.1:c.931T>C, NM_001352959.1:c.1021T>C, XP_011515799.1:p.Phe836Leu, NP_001073863.1:p.Phe836Leu, XP_016868760.1:p.Phe776Leu, XP_016868757.1:p.Phe836Leu, XP_016868758.1:p.Phe816Leu, XP_016868759.1:p.Phe796Leu, XP_016868762.1:p.Phe679Leu, XP_047277596.1:p.Phe776Leu, XP_047277594.1:p.Phe816Leu, NP_001339878.1:p.Phe617Leu, NP_001339887.1:p.Phe420Leu, NP_001339860.1:p.Phe836Leu, NP_001339864.1:p.Phe766Leu, NP_001269848.1:p.Phe776Leu, NP_001339862.1:p.Phe776Leu, NP_001269845.1:p.Phe766Leu, XP_047277602.1:p.Phe670Leu, NP_001339861.1:p.Phe796Leu, XP_047277601.1:p.Phe672Leu, XP_047277603.1:p.Phe617Leu, NP_001339869.1:p.Phe672Leu, NP_001339880.1:p.Phe586Leu, NP_001339867.1:p.Phe672Leu, NP_001339871.1:p.Phe617Leu, NP_001339868.1:p.Phe672Leu, NP_001339876.1:p.Phe586Leu, NP_001339877.1:p.Phe586Leu, NP_001339875.1:p.Phe586Leu, NP_001339884.1:p.Phe525Leu, XP_047277604.1:p.Phe586Leu, NP_001339881.1:p.Phe525Leu, NP_001339882.1:p.Phe525Leu, NP_001339885.1:p.Phe525Leu, NP_001339870.1:p.Phe664Leu, NP_001339874.1:p.Phe594Leu, XP_047277605.1:p.Phe525Leu, XP_047277595.1:p.Phe836Leu, XP_047277607.1:p.Phe420Leu, XP_047277608.1:p.Phe420Leu, NP_001339889.1:p.Phe311Leu, NP_001339888.1:p.Phe341Leu

                          13.

                          rs1453707415 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            8:47712703 (GRCh38)
                            8:48625265 (GRCh37)
                            Canonical SPDI:
                            NC_000008.11:47712702:G:A
                            Gene:
                            SPIDR (Varview)
                            Functional Consequence:
                            coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0./0 (ALFA)
                            A=0.000004/1 (GnomAD_exomes)
                            A=0.000011/3 (TOPMED)
                            HGVS:
                            NC_000008.11:g.47712703G>A, NC_000008.10:g.48625265G>A, XM_011517497.4:c.2019G>A, XM_011517497.3:c.2019G>A, XM_011517497.2:c.2019G>A, XM_011517497.1:c.2019G>A, NM_001080394.4:c.2019G>A, NM_001080394.3:c.2019G>A, NM_001080394.2:c.2019G>A, XM_017013271.3:c.1839G>A, XM_017013271.2:c.1839G>A, XM_017013271.1:c.1839G>A, XM_017013268.3:c.2019G>A, XM_017013268.2:c.2019G>A, XM_017013268.1:c.2019G>A, XM_017013269.3:c.1959G>A, XM_017013269.2:c.1959G>A, XM_017013269.1:c.1959G>A, XM_017013270.3:c.1899G>A, XM_017013270.2:c.1899G>A, XM_017013270.1:c.1899G>A, XM_017013273.2:c.1548G>A, XM_017013273.1:c.1548G>A, XM_047421640.1:c.1839G>A, XM_047421638.1:c.1959G>A, NR_148202.1:n.2222G>A, NM_001352949.1:c.1362G>A, NM_001352958.1:c.771G>A, XM_047421643.1:c.1959G>A, NM_001352931.1:c.2019G>A, XM_047421644.1:c.1899G>A, NR_148204.1:n.2095G>A, NM_001352935.1:c.1809G>A, XM_047421641.1:c.1959G>A, NM_001282919.1:c.1839G>A, NM_001352933.1:c.1839G>A, NM_001282916.1:c.1809G>A, XM_047421642.1:c.1899G>A, NR_148205.1:n.2100G>A, XM_047421646.1:c.1521G>A, NM_001352932.1:c.1899G>A, XM_047421645.1:c.1527G>A, NR_148203.1:n.2063G>A, XM_047421647.1:c.1362G>A, NM_001352940.1:c.1527G>A, NM_001352934.1:c.2019G>A, NM_001352951.1:c.1269G>A, NM_001352938.1:c.1527G>A, NM_001352937.1:c.1839G>A, NM_001352942.1:c.1362G>A, NM_001352939.1:c.1527G>A, NM_001352947.1:c.1269G>A, NM_001352948.1:c.1269G>A, NM_001352961.1:c.2019G>A, NM_001352946.1:c.1269G>A, NM_001352936.1:c.1809G>A, NM_001352950.1:c.1527G>A, NM_001352955.1:c.1086G>A, XM_047421648.1:c.1269G>A, NM_001352952.1:c.1086G>A, NM_001352953.1:c.1086G>A, NM_001352943.1:c.1527G>A, NM_001352956.1:c.1086G>A, NM_001352941.1:c.1503G>A, NM_001352957.1:c.1086G>A, NM_001352945.1:c.1293G>A, XM_047421649.1:c.1086G>A, NR_104581.1:n.1497G>A, XM_047421639.1:c.2019G>A, XM_047421651.1:c.771G>A, NM_001352944.1:c.1503G>A, XM_047421650.1:c.1467G>A, XM_047421652.1:c.771G>A, NM_001352960.1:c.444G>A, NM_001352959.1:c.534G>A

                            14.

                            rs1451741413 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>T [Show Flanks]
                              Chromosome:
                              8:47713619 (GRCh38)
                              8:48626181 (GRCh37)
                              Canonical SPDI:
                              NC_000008.11:47713618:C:T
                              Gene:
                              SPIDR (Varview)
                              Functional Consequence:
                              coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              T=0.000224/1 (ALFA)
                              T=0.000007/1 (GnomAD)
                              T=0.000223/1 (Estonian)
                              HGVS:
                              NC_000008.11:g.47713619C>T, NC_000008.10:g.48626181C>T, XM_011517497.4:c.2319C>T, XM_011517497.3:c.2319C>T, XM_011517497.2:c.2319C>T, XM_011517497.1:c.2319C>T, NM_001080394.4:c.2319C>T, NM_001080394.3:c.2319C>T, NM_001080394.2:c.2319C>T, XM_017013271.3:c.2139C>T, XM_017013271.2:c.2139C>T, XM_017013271.1:c.2139C>T, XM_017013268.3:c.2319C>T, XM_017013268.2:c.2319C>T, XM_017013268.1:c.2319C>T, XM_017013269.3:c.2259C>T, XM_017013269.2:c.2259C>T, XM_017013269.1:c.2259C>T, XM_017013270.3:c.2199C>T, XM_017013270.2:c.2199C>T, XM_017013270.1:c.2199C>T, XM_017013273.2:c.1848C>T, XM_017013273.1:c.1848C>T, XM_047421640.1:c.2139C>T, XM_047421638.1:c.2259C>T, NR_148202.1:n.2522C>T, NM_001352949.1:c.1662C>T, NM_001352958.1:c.1071C>T, XM_047421643.1:c.2259C>T, NM_001352931.1:c.2319C>T, XM_047421644.1:c.2199C>T, NR_148204.1:n.2395C>T, NM_001352935.1:c.2109C>T, XM_047421641.1:c.2259C>T, NM_001282919.1:c.2139C>T, NM_001352933.1:c.2139C>T, NM_001282916.1:c.2109C>T, XM_047421642.1:c.2199C>T, NR_148205.1:n.2400C>T, XM_047421646.1:c.1821C>T, NM_001352932.1:c.2199C>T, XM_047421645.1:c.1827C>T, NR_148203.1:n.2363C>T, XM_047421647.1:c.1662C>T, NM_001352940.1:c.1827C>T, NM_001352934.1:c.2319C>T, NM_001352951.1:c.1569C>T, NM_001352938.1:c.1827C>T, NM_001352937.1:c.2139C>T, NM_001352942.1:c.1662C>T, NM_001352939.1:c.1827C>T, NM_001352947.1:c.1569C>T, NM_001352948.1:c.1569C>T, NM_001352961.1:c.2319C>T, NM_001352946.1:c.1569C>T, NM_001352936.1:c.2109C>T, NM_001352950.1:c.1827C>T, NM_001352955.1:c.1386C>T, XM_047421648.1:c.1569C>T, NM_001352952.1:c.1386C>T, NM_001352953.1:c.1386C>T, NM_001352943.1:c.1827C>T, NM_001352956.1:c.1386C>T, NM_001352941.1:c.1803C>T, NM_001352957.1:c.1386C>T, NM_001352945.1:c.1593C>T, XM_047421649.1:c.1386C>T, NR_104581.1:n.1797C>T, XM_047421639.1:c.2319C>T, XM_047421651.1:c.1071C>T, NM_001352944.1:c.1803C>T, XM_047421650.1:c.*721C>T, XM_047421652.1:c.1071C>T, NM_001352960.1:c.744C>T, NM_001352959.1:c.834C>T

                              15.

                              rs1450892052 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                8:47729417 (GRCh38)
                                8:48641979 (GRCh37)
                                Canonical SPDI:
                                NC_000008.11:47729416:G:A
                                Gene:
                                SPIDR (Varview)
                                Functional Consequence:
                                intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                                HGVS:
                                NC_000008.11:g.47729417G>A, NC_000008.10:g.48641979G>A, XM_011517497.4:c.2556G>A, XM_011517497.3:c.2556G>A, XM_011517497.2:c.2556G>A, XM_011517497.1:c.2556G>A, NM_001080394.4:c.2556G>A, NM_001080394.3:c.2556G>A, NM_001080394.2:c.2556G>A, XM_047421640.1:c.2376G>A, XM_047421638.1:c.2496G>A, NR_148202.1:n.2759G>A, NM_001352949.1:c.1954G>A, NM_001352958.1:c.1308G>A, NM_001352931.1:c.2611G>A, NR_148204.1:n.2632G>A, NM_001352935.1:c.2401G>A, NM_001352933.1:c.2376G>A, NM_001282916.1:c.2346G>A, NR_148205.1:n.2543G>A, NM_001352932.1:c.2436G>A, NR_148203.1:n.2506G>A, NM_001352940.1:c.2064G>A, NM_001352951.1:c.1861G>A, NM_001352938.1:c.2064G>A, NM_001352942.1:c.1899G>A, NM_001352939.1:c.2064G>A, NM_001352947.1:c.1806G>A, NM_001352948.1:c.1806G>A, NM_001352946.1:c.1806G>A, NM_001352955.1:c.1623G>A, NM_001352952.1:c.1623G>A, NM_001352953.1:c.1623G>A, NM_001352956.1:c.1623G>A, NM_001352941.1:c.2040G>A, NM_001352945.1:c.1830G>A, NR_104581.1:n.2034G>A, XM_047421639.1:c.2611G>A, NM_001352960.1:c.981G>A, NM_001352959.1:c.1071G>A, NP_001339878.1:p.Ala652Thr, NP_001339860.1:p.Ala871Thr, NP_001339864.1:p.Ala801Thr, NP_001339880.1:p.Ala621Thr, XP_047277595.1:p.Ala871Thr

                                16.

                                rs1448138208 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>G,T [Show Flanks]
                                  Chromosome:
                                  8:47712801 (GRCh38)
                                  8:48625363 (GRCh37)
                                  Canonical SPDI:
                                  NC_000008.11:47712800:C:G,NC_000008.11:47712800:C:T
                                  Gene:
                                  SPIDR (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  NC_000008.11:g.47712801C>G, NC_000008.11:g.47712801C>T, NC_000008.10:g.48625363C>G, NC_000008.10:g.48625363C>T, XM_011517497.4:c.2117C>G, XM_011517497.4:c.2117C>T, XM_011517497.3:c.2117C>G, XM_011517497.3:c.2117C>T, XM_011517497.2:c.2117C>G, XM_011517497.2:c.2117C>T, XM_011517497.1:c.2117C>G, XM_011517497.1:c.2117C>T, NM_001080394.4:c.2117C>G, NM_001080394.4:c.2117C>T, NM_001080394.3:c.2117C>G, NM_001080394.3:c.2117C>T, NM_001080394.2:c.2117C>G, NM_001080394.2:c.2117C>T, XM_017013271.3:c.1937C>G, XM_017013271.3:c.1937C>T, XM_017013271.2:c.1937C>G, XM_017013271.2:c.1937C>T, XM_017013271.1:c.1937C>G, XM_017013271.1:c.1937C>T, XM_017013268.3:c.2117C>G, XM_017013268.3:c.2117C>T, XM_017013268.2:c.2117C>G, XM_017013268.2:c.2117C>T, XM_017013268.1:c.2117C>G, XM_017013268.1:c.2117C>T, XM_017013269.3:c.2057C>G, XM_017013269.3:c.2057C>T, XM_017013269.2:c.2057C>G, XM_017013269.2:c.2057C>T, XM_017013269.1:c.2057C>G, XM_017013269.1:c.2057C>T, XM_017013270.3:c.1997C>G, XM_017013270.3:c.1997C>T, XM_017013270.2:c.1997C>G, XM_017013270.2:c.1997C>T, XM_017013270.1:c.1997C>G, XM_017013270.1:c.1997C>T, XM_017013273.2:c.1646C>G, XM_017013273.2:c.1646C>T, XM_017013273.1:c.1646C>G, XM_017013273.1:c.1646C>T, XM_047421640.1:c.1937C>G, XM_047421640.1:c.1937C>T, XM_047421638.1:c.2057C>G, XM_047421638.1:c.2057C>T, NR_148202.1:n.2320C>G, NR_148202.1:n.2320C>T, NM_001352949.1:c.1460C>G, NM_001352949.1:c.1460C>T, NM_001352958.1:c.869C>G, NM_001352958.1:c.869C>T, XM_047421643.1:c.2057C>G, XM_047421643.1:c.2057C>T, NM_001352931.1:c.2117C>G, NM_001352931.1:c.2117C>T, XM_047421644.1:c.1997C>G, XM_047421644.1:c.1997C>T, NR_148204.1:n.2193C>G, NR_148204.1:n.2193C>T, NM_001352935.1:c.1907C>G, NM_001352935.1:c.1907C>T, XM_047421641.1:c.2057C>G, XM_047421641.1:c.2057C>T, NM_001282919.1:c.1937C>G, NM_001282919.1:c.1937C>T, NM_001352933.1:c.1937C>G, NM_001352933.1:c.1937C>T, NM_001282916.1:c.1907C>G, NM_001282916.1:c.1907C>T, XM_047421642.1:c.1997C>G, XM_047421642.1:c.1997C>T, NR_148205.1:n.2198C>G, NR_148205.1:n.2198C>T, XM_047421646.1:c.1619C>G, XM_047421646.1:c.1619C>T, NM_001352932.1:c.1997C>G, NM_001352932.1:c.1997C>T, XM_047421645.1:c.1625C>G, XM_047421645.1:c.1625C>T, NR_148203.1:n.2161C>G, NR_148203.1:n.2161C>T, XM_047421647.1:c.1460C>G, XM_047421647.1:c.1460C>T, NM_001352940.1:c.1625C>G, NM_001352940.1:c.1625C>T, NM_001352934.1:c.2117C>G, NM_001352934.1:c.2117C>T, NM_001352951.1:c.1367C>G, NM_001352951.1:c.1367C>T, NM_001352938.1:c.1625C>G, NM_001352938.1:c.1625C>T, NM_001352937.1:c.1937C>G, NM_001352937.1:c.1937C>T, NM_001352942.1:c.1460C>G, NM_001352942.1:c.1460C>T, NM_001352939.1:c.1625C>G, NM_001352939.1:c.1625C>T, NM_001352947.1:c.1367C>G, NM_001352947.1:c.1367C>T, NM_001352948.1:c.1367C>G, NM_001352948.1:c.1367C>T, NM_001352961.1:c.2117C>G, NM_001352961.1:c.2117C>T, NM_001352946.1:c.1367C>G, NM_001352946.1:c.1367C>T, NM_001352936.1:c.1907C>G, NM_001352936.1:c.1907C>T, NM_001352950.1:c.1625C>G, NM_001352950.1:c.1625C>T, NM_001352955.1:c.1184C>G, NM_001352955.1:c.1184C>T, XM_047421648.1:c.1367C>G, XM_047421648.1:c.1367C>T, NM_001352952.1:c.1184C>G, NM_001352952.1:c.1184C>T, NM_001352953.1:c.1184C>G, NM_001352953.1:c.1184C>T, NM_001352943.1:c.1625C>G, NM_001352943.1:c.1625C>T, NM_001352956.1:c.1184C>G, NM_001352956.1:c.1184C>T, NM_001352941.1:c.1601C>G, NM_001352941.1:c.1601C>T, NM_001352957.1:c.1184C>G, NM_001352957.1:c.1184C>T, NM_001352945.1:c.1391C>G, NM_001352945.1:c.1391C>T, XM_047421649.1:c.1184C>G, XM_047421649.1:c.1184C>T, NR_104581.1:n.1595C>G, NR_104581.1:n.1595C>T, XM_047421639.1:c.2117C>G, XM_047421639.1:c.2117C>T, XM_047421651.1:c.869C>G, XM_047421651.1:c.869C>T, NM_001352944.1:c.1601C>G, NM_001352944.1:c.1601C>T, XM_047421650.1:c.1565C>G, XM_047421650.1:c.1565C>T, XM_047421652.1:c.869C>G, XM_047421652.1:c.869C>T, NM_001352960.1:c.542C>G, NM_001352960.1:c.542C>T, NM_001352959.1:c.632C>G, NM_001352959.1:c.632C>T, XP_011515799.1:p.Ser706Cys, XP_011515799.1:p.Ser706Phe, NP_001073863.1:p.Ser706Cys, NP_001073863.1:p.Ser706Phe, XP_016868760.1:p.Ser646Cys, XP_016868760.1:p.Ser646Phe, XP_016868757.1:p.Ser706Cys, XP_016868757.1:p.Ser706Phe, XP_016868758.1:p.Ser686Cys, XP_016868758.1:p.Ser686Phe, XP_016868759.1:p.Ser666Cys, XP_016868759.1:p.Ser666Phe, XP_016868762.1:p.Ser549Cys, XP_016868762.1:p.Ser549Phe, XP_047277596.1:p.Ser646Cys, XP_047277596.1:p.Ser646Phe, XP_047277594.1:p.Ser686Cys, XP_047277594.1:p.Ser686Phe, NP_001339878.1:p.Ser487Cys, NP_001339878.1:p.Ser487Phe, NP_001339887.1:p.Ser290Cys, NP_001339887.1:p.Ser290Phe, XP_047277599.1:p.Ser686Cys, XP_047277599.1:p.Ser686Phe, NP_001339860.1:p.Ser706Cys, NP_001339860.1:p.Ser706Phe, XP_047277600.1:p.Ser666Cys, XP_047277600.1:p.Ser666Phe, NP_001339864.1:p.Ser636Cys, NP_001339864.1:p.Ser636Phe, XP_047277597.1:p.Ser686Cys, XP_047277597.1:p.Ser686Phe, NP_001269848.1:p.Ser646Cys, NP_001269848.1:p.Ser646Phe, NP_001339862.1:p.Ser646Cys, NP_001339862.1:p.Ser646Phe, NP_001269845.1:p.Ser636Cys, NP_001269845.1:p.Ser636Phe, XP_047277598.1:p.Ser666Cys, XP_047277598.1:p.Ser666Phe, XP_047277602.1:p.Ser540Cys, XP_047277602.1:p.Ser540Phe, NP_001339861.1:p.Ser666Cys, NP_001339861.1:p.Ser666Phe, XP_047277601.1:p.Ser542Cys, XP_047277601.1:p.Ser542Phe, XP_047277603.1:p.Ser487Cys, XP_047277603.1:p.Ser487Phe, NP_001339869.1:p.Ser542Cys, NP_001339869.1:p.Ser542Phe, NP_001339863.1:p.Ser706Cys, NP_001339863.1:p.Ser706Phe, NP_001339880.1:p.Ser456Cys, NP_001339880.1:p.Ser456Phe, NP_001339867.1:p.Ser542Cys, NP_001339867.1:p.Ser542Phe, NP_001339866.1:p.Ser646Cys, NP_001339866.1:p.Ser646Phe, NP_001339871.1:p.Ser487Cys, NP_001339871.1:p.Ser487Phe, NP_001339868.1:p.Ser542Cys, NP_001339868.1:p.Ser542Phe, NP_001339876.1:p.Ser456Cys, NP_001339876.1:p.Ser456Phe, NP_001339877.1:p.Ser456Cys, NP_001339877.1:p.Ser456Phe, NP_001339890.1:p.Ser706Cys, NP_001339890.1:p.Ser706Phe, NP_001339875.1:p.Ser456Cys, NP_001339875.1:p.Ser456Phe, NP_001339865.1:p.Ser636Cys, NP_001339865.1:p.Ser636Phe, NP_001339879.1:p.Ser542Cys, NP_001339879.1:p.Ser542Phe, NP_001339884.1:p.Ser395Cys, NP_001339884.1:p.Ser395Phe, XP_047277604.1:p.Ser456Cys, XP_047277604.1:p.Ser456Phe, NP_001339881.1:p.Ser395Cys, NP_001339881.1:p.Ser395Phe, NP_001339882.1:p.Ser395Cys, NP_001339882.1:p.Ser395Phe, NP_001339872.1:p.Ser542Cys, NP_001339872.1:p.Ser542Phe, NP_001339885.1:p.Ser395Cys, NP_001339885.1:p.Ser395Phe, NP_001339870.1:p.Ser534Cys, NP_001339870.1:p.Ser534Phe, NP_001339886.1:p.Ser395Cys, NP_001339886.1:p.Ser395Phe, NP_001339874.1:p.Ser464Cys, NP_001339874.1:p.Ser464Phe, XP_047277605.1:p.Ser395Cys, XP_047277605.1:p.Ser395Phe, XP_047277595.1:p.Ser706Cys, XP_047277595.1:p.Ser706Phe, XP_047277607.1:p.Ser290Cys, XP_047277607.1:p.Ser290Phe, NP_001339873.1:p.Ser534Cys, NP_001339873.1:p.Ser534Phe, XP_047277606.1:p.Ser522Cys, XP_047277606.1:p.Ser522Phe, XP_047277608.1:p.Ser290Cys, XP_047277608.1:p.Ser290Phe, NP_001339889.1:p.Ser181Cys, NP_001339889.1:p.Ser181Phe, NP_001339888.1:p.Ser211Cys, NP_001339888.1:p.Ser211Phe

                                  17.

                                  rs1445776138 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G,T [Show Flanks]
                                    Chromosome:
                                    8:47701808 (GRCh38)
                                    8:48614370 (GRCh37)
                                    Canonical SPDI:
                                    NC_000008.11:47701807:C:G,NC_000008.11:47701807:C:T
                                    Gene:
                                    SPIDR (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant,non_coding_transcript_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    T=0.000004/1 (GnomAD_exomes)
                                    G=0.000342/1 (KOREAN)
                                    HGVS:
                                    NC_000008.11:g.47701808C>G, NC_000008.11:g.47701808C>T, NC_000008.10:g.48614370C>G, NC_000008.10:g.48614370C>T, XM_011517497.4:c.1861C>G, XM_011517497.4:c.1861C>T, XM_011517497.3:c.1861C>G, XM_011517497.3:c.1861C>T, XM_011517497.2:c.1861C>G, XM_011517497.2:c.1861C>T, XM_011517497.1:c.1861C>G, XM_011517497.1:c.1861C>T, NM_001080394.4:c.1861C>G, NM_001080394.4:c.1861C>T, NM_001080394.3:c.1861C>G, NM_001080394.3:c.1861C>T, NM_001080394.2:c.1861C>G, NM_001080394.2:c.1861C>T, XM_017013271.3:c.1681C>G, XM_017013271.3:c.1681C>T, XM_017013271.2:c.1681C>G, XM_017013271.2:c.1681C>T, XM_017013271.1:c.1681C>G, XM_017013271.1:c.1681C>T, XM_017013268.3:c.1861C>G, XM_017013268.3:c.1861C>T, XM_017013268.2:c.1861C>G, XM_017013268.2:c.1861C>T, XM_017013268.1:c.1861C>G, XM_017013268.1:c.1861C>T, XM_017013269.3:c.1861C>G, XM_017013269.3:c.1861C>T, XM_017013269.2:c.1861C>G, XM_017013269.2:c.1861C>T, XM_017013269.1:c.1861C>G, XM_017013269.1:c.1861C>T, XM_017013270.3:c.1741C>G, XM_017013270.3:c.1741C>T, XM_017013270.2:c.1741C>G, XM_017013270.2:c.1741C>T, XM_017013270.1:c.1741C>G, XM_017013270.1:c.1741C>T, XM_017013273.2:c.1390C>G, XM_017013273.2:c.1390C>T, XM_017013273.1:c.1390C>G, XM_017013273.1:c.1390C>T, XM_047421640.1:c.1681C>G, XM_047421640.1:c.1681C>T, XM_047421638.1:c.1861C>G, XM_047421638.1:c.1861C>T, NR_148202.1:n.2064C>G, NR_148202.1:n.2064C>T, NM_001352949.1:c.1204C>G, NM_001352949.1:c.1204C>T, NM_001352958.1:c.613C>G, NM_001352958.1:c.613C>T, XM_047421643.1:c.1861C>G, XM_047421643.1:c.1861C>T, NM_001352931.1:c.1861C>G, NM_001352931.1:c.1861C>T, XM_047421644.1:c.1741C>G, XM_047421644.1:c.1741C>T, NR_148204.1:n.1937C>G, NR_148204.1:n.1937C>T, NM_001352935.1:c.1651C>G, NM_001352935.1:c.1651C>T, XM_047421641.1:c.1861C>G, XM_047421641.1:c.1861C>T, NM_001282919.1:c.1681C>G, NM_001282919.1:c.1681C>T, NM_001352933.1:c.1681C>G, NM_001352933.1:c.1681C>T, NM_001282916.1:c.1651C>G, NM_001282916.1:c.1651C>T, XM_047421642.1:c.1741C>G, XM_047421642.1:c.1741C>T, NR_148205.1:n.1942C>G, NR_148205.1:n.1942C>T, XM_047421646.1:c.1363C>G, XM_047421646.1:c.1363C>T, NM_001352932.1:c.1741C>G, NM_001352932.1:c.1741C>T, XM_047421645.1:c.1369C>G, XM_047421645.1:c.1369C>T, NR_148203.1:n.1905C>G, NR_148203.1:n.1905C>T, XM_047421647.1:c.1204C>G, XM_047421647.1:c.1204C>T, NM_001352940.1:c.1369C>G, NM_001352940.1:c.1369C>T, NM_001352934.1:c.1861C>G, NM_001352934.1:c.1861C>T, NM_001352951.1:c.1111C>G, NM_001352951.1:c.1111C>T, NM_001352938.1:c.1369C>G, NM_001352938.1:c.1369C>T, NM_001352937.1:c.1681C>G, NM_001352937.1:c.1681C>T, NM_001352942.1:c.1204C>G, NM_001352942.1:c.1204C>T, NM_001352939.1:c.1369C>G, NM_001352939.1:c.1369C>T, NM_001352947.1:c.1111C>G, NM_001352947.1:c.1111C>T, NM_001352948.1:c.1111C>G, NM_001352948.1:c.1111C>T, NM_001352961.1:c.1861C>G, NM_001352961.1:c.1861C>T, NM_001352946.1:c.1111C>G, NM_001352946.1:c.1111C>T, NM_001352936.1:c.1651C>G, NM_001352936.1:c.1651C>T, NM_001352950.1:c.1369C>G, NM_001352950.1:c.1369C>T, NM_001352955.1:c.928C>G, NM_001352955.1:c.928C>T, XM_047421648.1:c.1111C>G, XM_047421648.1:c.1111C>T, NM_001352952.1:c.928C>G, NM_001352952.1:c.928C>T, NM_001352953.1:c.928C>G, NM_001352953.1:c.928C>T, NM_001352943.1:c.1369C>G, NM_001352943.1:c.1369C>T, NM_001352956.1:c.928C>G, NM_001352956.1:c.928C>T, NM_001352941.1:c.1345C>G, NM_001352941.1:c.1345C>T, NM_001352957.1:c.928C>G, NM_001352957.1:c.928C>T, NM_001352945.1:c.1135C>G, NM_001352945.1:c.1135C>T, XM_047421649.1:c.928C>G, XM_047421649.1:c.928C>T, NR_104581.1:n.1339C>G, NR_104581.1:n.1339C>T, XM_047421639.1:c.1861C>G, XM_047421639.1:c.1861C>T, XM_047421651.1:c.613C>G, XM_047421651.1:c.613C>T, NM_001352944.1:c.1345C>G, NM_001352944.1:c.1345C>T, XM_047421650.1:c.1369C>G, XM_047421650.1:c.1369C>T, XM_047421652.1:c.613C>G, XM_047421652.1:c.613C>T, NM_001352960.1:c.286C>G, NM_001352960.1:c.286C>T, NM_001352959.1:c.376C>G, NM_001352959.1:c.376C>T, XP_011515799.1:p.Pro621Ala, XP_011515799.1:p.Pro621Ser, NP_001073863.1:p.Pro621Ala, NP_001073863.1:p.Pro621Ser, XP_016868760.1:p.Pro561Ala, XP_016868760.1:p.Pro561Ser, XP_016868757.1:p.Pro621Ala, XP_016868757.1:p.Pro621Ser, XP_016868758.1:p.Pro621Ala, XP_016868758.1:p.Pro621Ser, XP_016868759.1:p.Pro581Ala, XP_016868759.1:p.Pro581Ser, XP_016868762.1:p.Pro464Ala, XP_016868762.1:p.Pro464Ser, XP_047277596.1:p.Pro561Ala, XP_047277596.1:p.Pro561Ser, XP_047277594.1:p.Pro621Ala, XP_047277594.1:p.Pro621Ser, NP_001339878.1:p.Pro402Ala, NP_001339878.1:p.Pro402Ser, NP_001339887.1:p.Pro205Ala, NP_001339887.1:p.Pro205Ser, XP_047277599.1:p.Pro621Ala, XP_047277599.1:p.Pro621Ser, NP_001339860.1:p.Pro621Ala, NP_001339860.1:p.Pro621Ser, XP_047277600.1:p.Pro581Ala, XP_047277600.1:p.Pro581Ser, NP_001339864.1:p.Pro551Ala, NP_001339864.1:p.Pro551Ser, XP_047277597.1:p.Pro621Ala, XP_047277597.1:p.Pro621Ser, NP_001269848.1:p.Pro561Ala, NP_001269848.1:p.Pro561Ser, NP_001339862.1:p.Pro561Ala, NP_001339862.1:p.Pro561Ser, NP_001269845.1:p.Pro551Ala, NP_001269845.1:p.Pro551Ser, XP_047277598.1:p.Pro581Ala, XP_047277598.1:p.Pro581Ser, XP_047277602.1:p.Pro455Ala, XP_047277602.1:p.Pro455Ser, NP_001339861.1:p.Pro581Ala, NP_001339861.1:p.Pro581Ser, XP_047277601.1:p.Pro457Ala, XP_047277601.1:p.Pro457Ser, XP_047277603.1:p.Pro402Ala, XP_047277603.1:p.Pro402Ser, NP_001339869.1:p.Pro457Ala, NP_001339869.1:p.Pro457Ser, NP_001339863.1:p.Pro621Ala, NP_001339863.1:p.Pro621Ser, NP_001339880.1:p.Pro371Ala, NP_001339880.1:p.Pro371Ser, NP_001339867.1:p.Pro457Ala, NP_001339867.1:p.Pro457Ser, NP_001339866.1:p.Pro561Ala, NP_001339866.1:p.Pro561Ser, NP_001339871.1:p.Pro402Ala, NP_001339871.1:p.Pro402Ser, NP_001339868.1:p.Pro457Ala, NP_001339868.1:p.Pro457Ser, NP_001339876.1:p.Pro371Ala, NP_001339876.1:p.Pro371Ser, NP_001339877.1:p.Pro371Ala, NP_001339877.1:p.Pro371Ser, NP_001339890.1:p.Pro621Ala, NP_001339890.1:p.Pro621Ser, NP_001339875.1:p.Pro371Ala, NP_001339875.1:p.Pro371Ser, NP_001339865.1:p.Pro551Ala, NP_001339865.1:p.Pro551Ser, NP_001339879.1:p.Pro457Ala, NP_001339879.1:p.Pro457Ser, NP_001339884.1:p.Pro310Ala, NP_001339884.1:p.Pro310Ser, XP_047277604.1:p.Pro371Ala, XP_047277604.1:p.Pro371Ser, NP_001339881.1:p.Pro310Ala, NP_001339881.1:p.Pro310Ser, NP_001339882.1:p.Pro310Ala, NP_001339882.1:p.Pro310Ser, NP_001339872.1:p.Pro457Ala, NP_001339872.1:p.Pro457Ser, NP_001339885.1:p.Pro310Ala, NP_001339885.1:p.Pro310Ser, NP_001339870.1:p.Pro449Ala, NP_001339870.1:p.Pro449Ser, NP_001339886.1:p.Pro310Ala, NP_001339886.1:p.Pro310Ser, NP_001339874.1:p.Pro379Ala, NP_001339874.1:p.Pro379Ser, XP_047277605.1:p.Pro310Ala, XP_047277605.1:p.Pro310Ser, XP_047277595.1:p.Pro621Ala, XP_047277595.1:p.Pro621Ser, XP_047277607.1:p.Pro205Ala, XP_047277607.1:p.Pro205Ser, NP_001339873.1:p.Pro449Ala, NP_001339873.1:p.Pro449Ser, XP_047277606.1:p.Pro457Ala, XP_047277606.1:p.Pro457Ser, XP_047277608.1:p.Pro205Ala, XP_047277608.1:p.Pro205Ser, NP_001339889.1:p.Pro96Ala, NP_001339889.1:p.Pro96Ser, NP_001339888.1:p.Pro126Ala, NP_001339888.1:p.Pro126Ser

                                    18.

                                    rs1443070177 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      8:47735394 (GRCh38)
                                      8:48647956 (GRCh37)
                                      Canonical SPDI:
                                      NC_000008.11:47735393:A:T
                                      Gene:
                                      SPIDR (Varview)
                                      Functional Consequence:
                                      genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000008.11:g.47735394A>T, NC_000008.10:g.48647956A>T, XM_011517497.4:c.*135A>T, XM_011517497.3:c.*135A>T, XM_011517497.2:c.*135A>T, NM_001080394.4:c.2692A>T, NM_001080394.3:c.2692A>T, NM_001080394.2:c.2692A>T, XM_017013271.3:c.2513A>T, XM_017013271.2:c.2513A>T, XM_017013271.1:c.2513A>T, XM_017013268.3:c.2693A>T, XM_017013268.2:c.2693A>T, XM_017013268.1:c.2693A>T, XM_017013269.3:c.2633A>T, XM_017013269.2:c.2633A>T, XM_017013269.1:c.2633A>T, XM_017013270.3:c.2573A>T, XM_017013270.2:c.2573A>T, XM_017013270.1:c.2573A>T, XM_017013273.2:c.2222A>T, XM_017013273.1:c.2222A>T, XM_047421640.1:c.2512A>T, XM_047421638.1:c.2632A>T, NR_148202.1:n.2895A>T, NM_001352949.1:c.*95A>T, NM_001352958.1:c.1444A>T, XM_047421643.1:c.*75A>T, NM_001352931.1:c.*95A>T, XM_047421644.1:c.*75A>T, NR_148204.1:n.2768A>T, NM_001352935.1:c.*95A>T, XM_047421641.1:c.2369A>T, NM_001282919.1:c.2513A>T, NM_001352933.1:c.2512A>T, NM_001282916.1:c.2482A>T, XM_047421642.1:c.2309A>T, NR_148205.1:n.2679A>T, XM_047421646.1:c.2195A>T, NM_001352932.1:c.2572A>T, XM_047421645.1:c.2201A>T, NR_148203.1:n.2642A>T, XM_047421647.1:c.2036A>T, NM_001352940.1:c.2200A>T, NM_001352934.1:c.*75A>T, NM_001352951.1:c.*95A>T, NM_001352938.1:c.2200A>T, NM_001352937.1:c.*75A>T, NM_001352942.1:c.2035A>T, NM_001352939.1:c.2200A>T, NM_001352947.1:c.1942A>T, NM_001352948.1:c.1942A>T, NM_001352961.1:c.2429A>T, NM_001352946.1:c.1942A>T, NM_001352936.1:c.2219A>T, NM_001352950.1:c.*75A>T, NM_001352955.1:c.1759A>T, XM_047421648.1:c.1943A>T, NM_001352952.1:c.1759A>T, NM_001352953.1:c.1759A>T, NM_001352943.1:c.1937A>T, NM_001352956.1:c.1759A>T, NM_001352941.1:c.2176A>T, NM_001352957.1:c.*75A>T, NM_001352945.1:c.1966A>T, XM_047421649.1:c.1760A>T, NR_104581.1:n.2170A>T, XM_047421651.1:c.1445A>T, NM_001352944.1:c.1913A>T, XM_047421652.1:c.1445A>T, NM_001352960.1:c.1117A>T, NM_001352959.1:c.1207A>T, NP_001073863.1:p.Ile898Phe, XP_016868760.1:p.His838Leu, XP_016868757.1:p.His898Leu, XP_016868758.1:p.His878Leu, XP_016868759.1:p.His858Leu, XP_016868762.1:p.His741Leu, XP_047277596.1:p.Ile838Phe, XP_047277594.1:p.Ile878Phe, NP_001339887.1:p.Ile482Phe, XP_047277597.1:p.His790Leu, NP_001269848.1:p.His838Leu, NP_001339862.1:p.Ile838Phe, NP_001269845.1:p.Ile828Phe, XP_047277598.1:p.His770Leu, XP_047277602.1:p.His732Leu, NP_001339861.1:p.Ile858Phe, XP_047277601.1:p.His734Leu, XP_047277603.1:p.His679Leu, NP_001339869.1:p.Ile734Phe, NP_001339867.1:p.Ile734Phe, NP_001339871.1:p.Ile679Phe, NP_001339868.1:p.Ile734Phe, NP_001339876.1:p.Ile648Phe, NP_001339877.1:p.Ile648Phe, NP_001339890.1:p.His810Leu, NP_001339875.1:p.Ile648Phe, NP_001339865.1:p.His740Leu, NP_001339884.1:p.Ile587Phe, XP_047277604.1:p.His648Leu, NP_001339881.1:p.Ile587Phe, NP_001339882.1:p.Ile587Phe, NP_001339872.1:p.His646Leu, NP_001339885.1:p.Ile587Phe, NP_001339870.1:p.Ile726Phe, NP_001339874.1:p.Ile656Phe, XP_047277605.1:p.His587Leu, XP_047277607.1:p.His482Leu, NP_001339873.1:p.His638Leu, XP_047277608.1:p.His482Leu, NP_001339889.1:p.Ile373Phe, NP_001339888.1:p.Ile403Phe

                                      19.

                                      rs1442595110 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>C [Show Flanks]
                                        Chromosome:
                                        8:47673894 (GRCh38)
                                        8:48586456 (GRCh37)
                                        Canonical SPDI:
                                        NC_000008.11:47673893:T:C
                                        Gene:
                                        SPIDR (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0.000028/1 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000008.11:g.47673894T>C, NC_000008.10:g.48586456T>C, XM_011517497.4:c.1638T>C, XM_011517497.3:c.1638T>C, XM_011517497.2:c.1638T>C, XM_011517497.1:c.1638T>C, NM_001080394.4:c.1638T>C, NM_001080394.3:c.1638T>C, NM_001080394.2:c.1638T>C, XM_017013271.3:c.1458T>C, XM_017013271.2:c.1458T>C, XM_017013271.1:c.1458T>C, XM_017013268.3:c.1638T>C, XM_017013268.2:c.1638T>C, XM_017013268.1:c.1638T>C, XM_017013269.3:c.1638T>C, XM_017013269.2:c.1638T>C, XM_017013269.1:c.1638T>C, XM_017013270.3:c.1518T>C, XM_017013270.2:c.1518T>C, XM_017013270.1:c.1518T>C, XM_017013273.2:c.1167T>C, XM_017013273.1:c.1167T>C, XM_047421640.1:c.1458T>C, XM_047421638.1:c.1638T>C, NR_148202.1:n.1841T>C, NM_001352949.1:c.981T>C, NM_001352958.1:c.390T>C, XM_047421643.1:c.1638T>C, NM_001352931.1:c.1638T>C, XM_047421644.1:c.1518T>C, NR_148204.1:n.1719T>C, NM_001352935.1:c.1428T>C, XM_047421641.1:c.1638T>C, NM_001282919.1:c.1458T>C, NM_001352933.1:c.1458T>C, NM_001282916.1:c.1428T>C, XM_047421642.1:c.1518T>C, NR_148205.1:n.1719T>C, XM_047421646.1:c.1140T>C, NM_001352932.1:c.1518T>C, XM_047421645.1:c.1146T>C, NR_148203.1:n.1682T>C, XM_047421647.1:c.981T>C, NM_001352940.1:c.1146T>C, NM_001352934.1:c.1638T>C, NM_001352951.1:c.888T>C, NM_001352938.1:c.1146T>C, NM_001352937.1:c.1458T>C, NM_001352942.1:c.981T>C, NM_001352939.1:c.1146T>C, NM_001352947.1:c.888T>C, NM_001352948.1:c.888T>C, NM_001352961.1:c.1638T>C, NM_001352946.1:c.888T>C, NM_001352936.1:c.1428T>C, NM_001352950.1:c.1146T>C, NM_001352955.1:c.705T>C, XM_047421648.1:c.888T>C, NM_001352952.1:c.705T>C, NM_001352953.1:c.705T>C, NM_001352943.1:c.1146T>C, NM_001352956.1:c.705T>C, NM_001352941.1:c.1122T>C, NM_001352957.1:c.705T>C, NM_001352945.1:c.912T>C, XM_047421649.1:c.705T>C, NR_104581.1:n.1116T>C, XM_047421639.1:c.1638T>C, XM_047421651.1:c.390T>C, NM_001352944.1:c.1122T>C, XM_047421650.1:c.1146T>C, XM_047421652.1:c.390T>C, NM_001352960.1:c.63T>C, NM_001352959.1:c.153T>C

                                        20.

                                        rs1439662865 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          8:47712869 (GRCh38)
                                          8:48625431 (GRCh37)
                                          Canonical SPDI:
                                          NC_000008.11:47712868:C:G,NC_000008.11:47712868:C:T
                                          Gene:
                                          SPIDR (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,missense_variant,stop_gained,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000004/1 (GnomAD_exomes)
                                          T=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000008.11:g.47712869C>G, NC_000008.11:g.47712869C>T, NC_000008.10:g.48625431C>G, NC_000008.10:g.48625431C>T, XM_011517497.4:c.2185C>G, XM_011517497.4:c.2185C>T, XM_011517497.3:c.2185C>G, XM_011517497.3:c.2185C>T, XM_011517497.2:c.2185C>G, XM_011517497.2:c.2185C>T, XM_011517497.1:c.2185C>G, XM_011517497.1:c.2185C>T, NM_001080394.4:c.2185C>G, NM_001080394.4:c.2185C>T, NM_001080394.3:c.2185C>G, NM_001080394.3:c.2185C>T, NM_001080394.2:c.2185C>G, NM_001080394.2:c.2185C>T, XM_017013271.3:c.2005C>G, XM_017013271.3:c.2005C>T, XM_017013271.2:c.2005C>G, XM_017013271.2:c.2005C>T, XM_017013271.1:c.2005C>G, XM_017013271.1:c.2005C>T, XM_017013268.3:c.2185C>G, XM_017013268.3:c.2185C>T, XM_017013268.2:c.2185C>G, XM_017013268.2:c.2185C>T, XM_017013268.1:c.2185C>G, XM_017013268.1:c.2185C>T, XM_017013269.3:c.2125C>G, XM_017013269.3:c.2125C>T, XM_017013269.2:c.2125C>G, XM_017013269.2:c.2125C>T, XM_017013269.1:c.2125C>G, XM_017013269.1:c.2125C>T, XM_017013270.3:c.2065C>G, XM_017013270.3:c.2065C>T, XM_017013270.2:c.2065C>G, XM_017013270.2:c.2065C>T, XM_017013270.1:c.2065C>G, XM_017013270.1:c.2065C>T, XM_017013273.2:c.1714C>G, XM_017013273.2:c.1714C>T, XM_017013273.1:c.1714C>G, XM_017013273.1:c.1714C>T, XM_047421640.1:c.2005C>G, XM_047421640.1:c.2005C>T, XM_047421638.1:c.2125C>G, XM_047421638.1:c.2125C>T, NR_148202.1:n.2388C>G, NR_148202.1:n.2388C>T, NM_001352949.1:c.1528C>G, NM_001352949.1:c.1528C>T, NM_001352958.1:c.937C>G, NM_001352958.1:c.937C>T, XM_047421643.1:c.2125C>G, XM_047421643.1:c.2125C>T, NM_001352931.1:c.2185C>G, NM_001352931.1:c.2185C>T, XM_047421644.1:c.2065C>G, XM_047421644.1:c.2065C>T, NR_148204.1:n.2261C>G, NR_148204.1:n.2261C>T, NM_001352935.1:c.1975C>G, NM_001352935.1:c.1975C>T, XM_047421641.1:c.2125C>G, XM_047421641.1:c.2125C>T, NM_001282919.1:c.2005C>G, NM_001282919.1:c.2005C>T, NM_001352933.1:c.2005C>G, NM_001352933.1:c.2005C>T, NM_001282916.1:c.1975C>G, NM_001282916.1:c.1975C>T, XM_047421642.1:c.2065C>G, XM_047421642.1:c.2065C>T, NR_148205.1:n.2266C>G, NR_148205.1:n.2266C>T, XM_047421646.1:c.1687C>G, XM_047421646.1:c.1687C>T, NM_001352932.1:c.2065C>G, NM_001352932.1:c.2065C>T, XM_047421645.1:c.1693C>G, XM_047421645.1:c.1693C>T, NR_148203.1:n.2229C>G, NR_148203.1:n.2229C>T, XM_047421647.1:c.1528C>G, XM_047421647.1:c.1528C>T, NM_001352940.1:c.1693C>G, NM_001352940.1:c.1693C>T, NM_001352934.1:c.2185C>G, NM_001352934.1:c.2185C>T, NM_001352951.1:c.1435C>G, NM_001352951.1:c.1435C>T, NM_001352938.1:c.1693C>G, NM_001352938.1:c.1693C>T, NM_001352937.1:c.2005C>G, NM_001352937.1:c.2005C>T, NM_001352942.1:c.1528C>G, NM_001352942.1:c.1528C>T, NM_001352939.1:c.1693C>G, NM_001352939.1:c.1693C>T, NM_001352947.1:c.1435C>G, NM_001352947.1:c.1435C>T, NM_001352948.1:c.1435C>G, NM_001352948.1:c.1435C>T, NM_001352961.1:c.2185C>G, NM_001352961.1:c.2185C>T, NM_001352946.1:c.1435C>G, NM_001352946.1:c.1435C>T, NM_001352936.1:c.1975C>G, NM_001352936.1:c.1975C>T, NM_001352950.1:c.1693C>G, NM_001352950.1:c.1693C>T, NM_001352955.1:c.1252C>G, NM_001352955.1:c.1252C>T, XM_047421648.1:c.1435C>G, XM_047421648.1:c.1435C>T, NM_001352952.1:c.1252C>G, NM_001352952.1:c.1252C>T, NM_001352953.1:c.1252C>G, NM_001352953.1:c.1252C>T, NM_001352943.1:c.1693C>G, NM_001352943.1:c.1693C>T, NM_001352956.1:c.1252C>G, NM_001352956.1:c.1252C>T, NM_001352941.1:c.1669C>G, NM_001352941.1:c.1669C>T, NM_001352957.1:c.1252C>G, NM_001352957.1:c.1252C>T, NM_001352945.1:c.1459C>G, NM_001352945.1:c.1459C>T, XM_047421649.1:c.1252C>G, XM_047421649.1:c.1252C>T, NR_104581.1:n.1663C>G, NR_104581.1:n.1663C>T, XM_047421639.1:c.2185C>G, XM_047421639.1:c.2185C>T, XM_047421651.1:c.937C>G, XM_047421651.1:c.937C>T, NM_001352944.1:c.1669C>G, NM_001352944.1:c.1669C>T, XM_047421650.1:c.1633C>G, XM_047421650.1:c.1633C>T, XM_047421652.1:c.937C>G, XM_047421652.1:c.937C>T, NM_001352960.1:c.610C>G, NM_001352960.1:c.610C>T, NM_001352959.1:c.700C>G, NM_001352959.1:c.700C>T, XP_011515799.1:p.Gln729Glu, XP_011515799.1:p.Gln729Ter, NP_001073863.1:p.Gln729Glu, NP_001073863.1:p.Gln729Ter, XP_016868760.1:p.Gln669Glu, XP_016868760.1:p.Gln669Ter, XP_016868757.1:p.Gln729Glu, XP_016868757.1:p.Gln729Ter, XP_016868758.1:p.Gln709Glu, XP_016868758.1:p.Gln709Ter, XP_016868759.1:p.Gln689Glu, XP_016868759.1:p.Gln689Ter, XP_016868762.1:p.Gln572Glu, XP_016868762.1:p.Gln572Ter, XP_047277596.1:p.Gln669Glu, XP_047277596.1:p.Gln669Ter, XP_047277594.1:p.Gln709Glu, XP_047277594.1:p.Gln709Ter, NP_001339878.1:p.Gln510Glu, NP_001339878.1:p.Gln510Ter, NP_001339887.1:p.Gln313Glu, NP_001339887.1:p.Gln313Ter, XP_047277599.1:p.Gln709Glu, XP_047277599.1:p.Gln709Ter, NP_001339860.1:p.Gln729Glu, NP_001339860.1:p.Gln729Ter, XP_047277600.1:p.Gln689Glu, XP_047277600.1:p.Gln689Ter, NP_001339864.1:p.Gln659Glu, NP_001339864.1:p.Gln659Ter, XP_047277597.1:p.Gln709Glu, XP_047277597.1:p.Gln709Ter, NP_001269848.1:p.Gln669Glu, NP_001269848.1:p.Gln669Ter, NP_001339862.1:p.Gln669Glu, NP_001339862.1:p.Gln669Ter, NP_001269845.1:p.Gln659Glu, NP_001269845.1:p.Gln659Ter, XP_047277598.1:p.Gln689Glu, XP_047277598.1:p.Gln689Ter, XP_047277602.1:p.Gln563Glu, XP_047277602.1:p.Gln563Ter, NP_001339861.1:p.Gln689Glu, NP_001339861.1:p.Gln689Ter, XP_047277601.1:p.Gln565Glu, XP_047277601.1:p.Gln565Ter, XP_047277603.1:p.Gln510Glu, XP_047277603.1:p.Gln510Ter, NP_001339869.1:p.Gln565Glu, NP_001339869.1:p.Gln565Ter, NP_001339863.1:p.Gln729Glu, NP_001339863.1:p.Gln729Ter, NP_001339880.1:p.Gln479Glu, NP_001339880.1:p.Gln479Ter, NP_001339867.1:p.Gln565Glu, NP_001339867.1:p.Gln565Ter, NP_001339866.1:p.Gln669Glu, NP_001339866.1:p.Gln669Ter, NP_001339871.1:p.Gln510Glu, NP_001339871.1:p.Gln510Ter, NP_001339868.1:p.Gln565Glu, NP_001339868.1:p.Gln565Ter, NP_001339876.1:p.Gln479Glu, NP_001339876.1:p.Gln479Ter, NP_001339877.1:p.Gln479Glu, NP_001339877.1:p.Gln479Ter, NP_001339890.1:p.Gln729Glu, NP_001339890.1:p.Gln729Ter, NP_001339875.1:p.Gln479Glu, NP_001339875.1:p.Gln479Ter, NP_001339865.1:p.Gln659Glu, NP_001339865.1:p.Gln659Ter, NP_001339879.1:p.Gln565Glu, NP_001339879.1:p.Gln565Ter, NP_001339884.1:p.Gln418Glu, NP_001339884.1:p.Gln418Ter, XP_047277604.1:p.Gln479Glu, XP_047277604.1:p.Gln479Ter, NP_001339881.1:p.Gln418Glu, NP_001339881.1:p.Gln418Ter, NP_001339882.1:p.Gln418Glu, NP_001339882.1:p.Gln418Ter, NP_001339872.1:p.Gln565Glu, NP_001339872.1:p.Gln565Ter, NP_001339885.1:p.Gln418Glu, NP_001339885.1:p.Gln418Ter, NP_001339870.1:p.Gln557Glu, NP_001339870.1:p.Gln557Ter, NP_001339886.1:p.Gln418Glu, NP_001339886.1:p.Gln418Ter, NP_001339874.1:p.Gln487Glu, NP_001339874.1:p.Gln487Ter, XP_047277605.1:p.Gln418Glu, XP_047277605.1:p.Gln418Ter, XP_047277595.1:p.Gln729Glu, XP_047277595.1:p.Gln729Ter, XP_047277607.1:p.Gln313Glu, XP_047277607.1:p.Gln313Ter, NP_001339873.1:p.Gln557Glu, NP_001339873.1:p.Gln557Ter, XP_047277606.1:p.Gln545Glu, XP_047277606.1:p.Gln545Ter, XP_047277608.1:p.Gln313Glu, XP_047277608.1:p.Gln313Ter, NP_001339889.1:p.Gln204Glu, NP_001339889.1:p.Gln204Ter, NP_001339888.1:p.Gln234Glu, NP_001339888.1:p.Gln234Ter

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