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Items: 1 to 20 of 992

1.

rs1490438033 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    15:28028009 (GRCh38)
    15:28273155 (GRCh37)
    Canonical SPDI:
    NC_000015.10:28028008:G:A
    Gene:
    OCA2 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    A=0.000004/1 (TOPMED)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000015.10:g.28028009G>A, NC_000015.9:g.28273155G>A, NG_009846.1:g.76304C>T, NM_000275.3:c.377C>T, NM_000275.2:c.377C>T, NM_001300984.2:c.377C>T, NM_001300984.1:c.377C>T, NW_011332701.1:g.162308G>A, NT_187660.1:g.162308G>A, XM_011521640.3:c.377C>T, XM_011521640.2:c.377C>T, XM_011521640.1:c.377C>T, XM_017022256.2:c.401C>T, XM_017022256.1:c.401C>T, XM_017022257.2:c.401C>T, XM_017022257.1:c.401C>T, XM_017022259.2:c.401C>T, XM_017022259.1:c.401C>T, XM_017022260.2:c.401C>T, XM_017022260.1:c.401C>T, XM_017022263.2:c.401C>T, XM_017022263.1:c.401C>T, XM_017022262.2:c.401C>T, XM_017022262.1:c.401C>T, XM_017022265.2:c.401C>T, XM_017022265.1:c.401C>T, XM_017022258.2:c.401C>T, XM_017022258.1:c.401C>T, XM_017022264.2:c.401C>T, XM_017022264.1:c.401C>T, XM_017022255.2:c.401C>T, XM_017022255.1:c.401C>T, XR_001751294.2:n.2702C>T, XR_001751294.1:n.490C>T, XM_017022261.2:c.206C>T, XM_017022261.1:c.206C>T, XM_047432610.1:c.401C>T, XM_047432616.1:c.401C>T, XM_047432608.1:c.377C>T, XM_047432611.1:c.377C>T, XM_047432612.1:c.377C>T, XM_047432617.1:c.377C>T, XM_047432606.1:c.377C>T, XM_047432609.1:c.377C>T, XM_047432614.1:c.377C>T, XM_047432619.1:c.377C>T, XM_047432605.1:c.377C>T, XM_047432613.1:c.377C>T, XM_047432618.1:c.377C>T, XM_047432615.1:c.401C>T, XM_047432607.1:c.401C>T, NP_000266.2:p.Ser126Phe, NP_001287913.1:p.Ser126Phe, XP_011519942.1:p.Ser126Phe, XP_016877745.1:p.Ser134Phe, XP_016877746.1:p.Ser134Phe, XP_016877748.1:p.Ser134Phe, XP_016877749.1:p.Ser134Phe, XP_016877752.1:p.Ser134Phe, XP_016877751.1:p.Ser134Phe, XP_016877754.1:p.Ser134Phe, XP_016877747.1:p.Ser134Phe, XP_016877753.1:p.Ser134Phe, XP_016877744.1:p.Ser134Phe, XP_016877750.1:p.Ser69Phe, XP_047288566.1:p.Ser134Phe, XP_047288572.1:p.Ser134Phe, XP_047288564.1:p.Ser126Phe, XP_047288567.1:p.Ser126Phe, XP_047288568.1:p.Ser126Phe, XP_047288573.1:p.Ser126Phe, XP_047288562.1:p.Ser126Phe, XP_047288565.1:p.Ser126Phe, XP_047288570.1:p.Ser126Phe, XP_047288575.1:p.Ser126Phe, XP_047288561.1:p.Ser126Phe, XP_047288569.1:p.Ser126Phe, XP_047288574.1:p.Ser126Phe, XP_047288571.1:p.Ser134Phe, XP_047288563.1:p.Ser134Phe

    2.

    rs1484647004 [Homo sapiens]
      Variant type:
      DEL
      Alleles:
      GAT>- [Show Flanks]
      Chromosome:
      15:28016156 (GRCh38)
      15:28261302 (GRCh37)
      Canonical SPDI:
      NC_000015.10:28016155:GAT:
      Gene:
      OCA2 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,inframe_indel
      Validated:
      by frequency,by alfa
      MAF:
      -=0./0 (ALFA)
      -=0.000004/1 (TOPMED)
      HGVS:
      NC_000015.10:g.28016156_28016158del, NC_000015.9:g.28261302_28261304del, NG_009846.1:g.88155_88157del, NM_000275.3:c.836_838del, NM_000275.2:c.836_838del, NM_001300984.2:c.836_838del, NM_001300984.1:c.836_838del, NW_011332701.1:g.150456_150458del, NT_187660.1:g.150456_150458del, XM_011521640.3:c.836_838del, XM_011521640.2:c.836_838del, XM_011521640.1:c.836_838del, XM_017022256.2:c.860_862del, XM_017022256.1:c.860_862del, XM_017022257.2:c.860_862del, XM_017022257.1:c.860_862del, XM_017022259.2:c.860_862del, XM_017022259.1:c.860_862del, XM_017022260.2:c.860_862del, XM_017022260.1:c.860_862del, XM_017022263.2:c.860_862del, XM_017022263.1:c.860_862del, XM_017022262.2:c.860_862del, XM_017022262.1:c.860_862del, XM_017022265.2:c.860_862del, XM_017022265.1:c.860_862del, XM_017022258.2:c.860_862del, XM_017022258.1:c.860_862del, XM_017022264.2:c.860_862del, XM_017022264.1:c.860_862del, XM_017022255.2:c.860_862del, XM_017022255.1:c.860_862del, XR_001751294.2:n.3161_3163del, XR_001751294.1:n.949_951del, XM_017022261.2:c.665_667del, XM_017022261.1:c.665_667del, XM_047432610.1:c.860_862del, XM_047432616.1:c.860_862del, XM_047432615.1:c.860_862del, XM_047432607.1:c.860_862del, XM_047432605.1:c.836_838del, XM_047432608.1:c.836_838del, XM_047432611.1:c.836_838del, XM_047432613.1:c.836_838del, XM_047432612.1:c.836_838del, XM_047432617.1:c.836_838del, XM_047432606.1:c.836_838del, XM_047432609.1:c.836_838del, XM_047432614.1:c.836_838del, XM_047432618.1:c.836_838del, XM_047432619.1:c.836_838del, NP_000266.2:p.Asn279_Pro280delinsThr, NP_001287913.1:p.Asn279_Pro280delinsThr, XP_011519942.1:p.Asn279_Pro280delinsThr, XP_016877745.1:p.Asn287_Pro288delinsThr, XP_016877746.1:p.Asn287_Pro288delinsThr, XP_016877748.1:p.Asn287_Pro288delinsThr, XP_016877749.1:p.Asn287_Pro288delinsThr, XP_016877752.1:p.Asn287_Pro288delinsThr, XP_016877751.1:p.Asn287_Pro288delinsThr, XP_016877754.1:p.Asn287_Pro288delinsThr, XP_016877747.1:p.Asn287_Pro288delinsThr, XP_016877753.1:p.Asn287_Pro288delinsThr, XP_016877744.1:p.Asn287_Pro288delinsThr, XP_016877750.1:p.Asn222_Pro223delinsThr, XP_047288566.1:p.Asn287_Pro288delinsThr, XP_047288572.1:p.Asn287_Pro288delinsThr, XP_047288571.1:p.Asn287_Pro288delinsThr, XP_047288563.1:p.Asn287_Pro288delinsThr, XP_047288561.1:p.Asn279_Pro280delinsThr, XP_047288564.1:p.Asn279_Pro280delinsThr, XP_047288567.1:p.Asn279_Pro280delinsThr, XP_047288569.1:p.Asn279_Pro280delinsThr, XP_047288568.1:p.Asn279_Pro280delinsThr, XP_047288573.1:p.Asn279_Pro280delinsThr, XP_047288562.1:p.Asn279_Pro280delinsThr, XP_047288565.1:p.Asn279_Pro280delinsThr, XP_047288570.1:p.Asn279_Pro280delinsThr, XP_047288574.1:p.Asn279_Pro280delinsThr, XP_047288575.1:p.Asn279_Pro280delinsThr

      3.

      rs1483791469 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>C [Show Flanks]
        Chromosome:
        15:27871179 (GRCh38)
        15:28116325 (GRCh37)
        Canonical SPDI:
        NC_000015.10:27871178:T:C
        Gene:
        OCA2 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
        HGVS:
        NC_000015.10:g.27871179T>C, NC_000015.9:g.28116325T>C, NG_009846.1:g.233134A>G, NM_000275.3:c.2219A>G, NM_000275.2:c.2219A>G, NM_001300984.2:c.2147A>G, NM_001300984.1:c.2147A>G, NW_011332701.1:g.5466T>C, NT_187660.1:g.5466T>C, XM_011521640.3:c.2219A>G, XM_011521640.2:c.2219A>G, XM_011521640.1:c.2219A>G, XM_017022256.2:c.2243A>G, XM_017022256.1:c.2243A>G, XM_017022257.2:c.2171A>G, XM_017022257.1:c.2171A>G, XM_017022259.2:c.2171A>G, XM_017022259.1:c.2171A>G, XM_017022260.2:c.2105A>G, XM_017022260.1:c.2105A>G, XM_017022262.2:c.2243A>G, XM_017022262.1:c.2243A>G, XM_017022255.2:c.2243A>G, XM_017022255.1:c.2243A>G, XM_017022261.2:c.2048A>G, XM_017022261.1:c.2048A>G, XM_017022258.2:c.2243A>G, XM_017022258.1:c.2243A>G, XM_047432615.1:c.2171A>G, XM_047432607.1:c.2171A>G, XM_047432605.1:c.2147A>G, XM_047432608.1:c.2081A>G, XM_047432611.1:c.2081A>G, XM_047432612.1:c.2219A>G, XM_047432606.1:c.2219A>G, XM_047432609.1:c.2147A>G, XM_047432610.1:c.2105A>G, NP_000266.2:p.Asp740Gly, NP_001287913.1:p.Asp716Gly, XP_011519942.1:p.Asp740Gly, XP_016877745.1:p.Asp748Gly, XP_016877746.1:p.Asp724Gly, XP_016877748.1:p.Asp724Gly, XP_016877749.1:p.Asp702Gly, XP_016877751.1:p.Asp748Gly, XP_016877744.1:p.Asp748Gly, XP_016877750.1:p.Asp683Gly, XP_016877747.1:p.Asp748Gly, XP_047288571.1:p.Asp724Gly, XP_047288563.1:p.Asp724Gly, XP_047288561.1:p.Asp716Gly, XP_047288564.1:p.Asp694Gly, XP_047288567.1:p.Asp694Gly, XP_047288568.1:p.Asp740Gly, XP_047288562.1:p.Asp740Gly, XP_047288565.1:p.Asp716Gly, XP_047288566.1:p.Asp702Gly

        4.

        rs1483258761 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          15:27985177 (GRCh38)
          15:28230323 (GRCh37)
          Canonical SPDI:
          NC_000015.10:27985176:G:A
          Gene:
          OCA2 (Varview)
          Functional Consequence:
          synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
          Validated:
          by frequency
          MAF:
          A=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000015.10:g.27985177G>A, NC_000015.9:g.28230323G>A, NG_009846.1:g.119136C>T, NM_000275.3:c.1251C>T, NM_000275.2:c.1251C>T, NM_001300984.2:c.1179C>T, NM_001300984.1:c.1179C>T, NW_011332701.1:g.119444G>A, NT_187660.1:g.119444G>A, XM_011521640.3:c.1251C>T, XM_011521640.2:c.1251C>T, XM_011521640.1:c.1251C>T, XM_017022256.2:c.1275C>T, XM_017022256.1:c.1275C>T, XM_017022257.2:c.1203C>T, XM_017022257.1:c.1203C>T, XM_017022259.2:c.1203C>T, XM_017022259.1:c.1203C>T, XM_017022260.2:c.1137C>T, XM_017022260.1:c.1137C>T, XM_017022263.2:c.1275C>T, XM_017022263.1:c.1275C>T, XM_017022262.2:c.1275C>T, XM_017022262.1:c.1275C>T, XM_017022265.2:c.1275C>T, XM_017022265.1:c.1275C>T, XM_017022258.2:c.1275C>T, XM_017022258.1:c.1275C>T, XM_017022264.2:c.1275C>T, XM_017022264.1:c.1275C>T, XM_017022255.2:c.1275C>T, XM_017022255.1:c.1275C>T, XR_001751294.2:n.3576C>T, XR_001751294.1:n.1364C>T, XM_017022261.2:c.1080C>T, XM_017022261.1:c.1080C>T, XM_047432610.1:c.1137C>T, XM_047432616.1:c.1203C>T, XM_047432608.1:c.1113C>T, XM_047432611.1:c.1113C>T, XM_047432612.1:c.1251C>T, XM_047432617.1:c.1179C>T, XM_047432606.1:c.1251C>T, XM_047432609.1:c.1179C>T, XM_047432614.1:c.1251C>T, XM_047432619.1:c.1113C>T, XM_047432605.1:c.1179C>T, XM_047432613.1:c.1251C>T, XM_047432618.1:c.1179C>T, XM_047432615.1:c.1203C>T, XM_047432607.1:c.1203C>T

          5.

          rs1483212992 has merged into rs964575236 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            CTCT>-,CT,CTCTCT [Show Flanks]
            Chromosome:
            15:27719323 (GRCh38)
            15:27964469 (GRCh37)
            Canonical SPDI:
            NC_000015.10:27719311:TCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000015.10:27719311:TCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000015.10:27719311:TCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT
            Gene:
            OCA2 (Varview)
            Functional Consequence:
            coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            TCTCTCTCTCTCT=0./0 (ALFA)
            HGVS:
            NC_000015.10:g.27719313CT[5], NC_000015.10:g.27719313CT[6], NC_000015.10:g.27719313CT[8], NC_000015.9:g.27964459CT[5], NC_000015.9:g.27964459CT[6], NC_000015.9:g.27964459CT[8], XM_017022258.2:c.2470_2473del, XM_017022258.2:c.2472_2473del, XM_017022258.2:c.2472_2473dup, XM_017022258.1:c.2470_2473del, XM_017022258.1:c.2472_2473del, XM_017022258.1:c.2472_2473dup, XM_017022264.2:c.2305_2308del, XM_017022264.2:c.2307_2308del, XM_017022264.2:c.2307_2308dup, XM_017022264.1:c.2305_2308del, XM_017022264.1:c.2307_2308del, XM_017022264.1:c.2307_2308dup, XM_047432607.1:c.2398_2401del, XM_047432607.1:c.2400_2401del, XM_047432607.1:c.2400_2401dup, XM_047432606.1:c.2446_2449del, XM_047432606.1:c.2448_2449del, XM_047432606.1:c.2448_2449dup, XM_047432609.1:c.2374_2377del, XM_047432609.1:c.2376_2377del, XM_047432609.1:c.2376_2377dup, XM_047432614.1:c.2281_2284del, XM_047432614.1:c.2283_2284del, XM_047432614.1:c.2283_2284dup, XM_047432618.1:c.2209_2212del, XM_047432618.1:c.2211_2212del, XM_047432618.1:c.2211_2212dup, XM_047432619.1:c.2143_2146del, XM_047432619.1:c.2145_2146del, XM_047432619.1:c.2145_2146dup, XP_016877747.1:p.Glu824fs, XP_016877747.1:p.Glu824fs, XP_016877747.1:p.Thr825fs, XP_016877753.1:p.Glu769fs, XP_016877753.1:p.Glu769fs, XP_016877753.1:p.Thr770fs, XP_047288563.1:p.Glu800fs, XP_047288563.1:p.Glu800fs, XP_047288563.1:p.Thr801fs, XP_047288562.1:p.Glu816fs, XP_047288562.1:p.Glu816fs, XP_047288562.1:p.Thr817fs, XP_047288565.1:p.Glu792fs, XP_047288565.1:p.Glu792fs, XP_047288565.1:p.Thr793fs, XP_047288570.1:p.Glu761fs, XP_047288570.1:p.Glu761fs, XP_047288570.1:p.Thr762fs, XP_047288574.1:p.Glu737fs, XP_047288574.1:p.Glu737fs, XP_047288574.1:p.Thr738fs, XP_047288575.1:p.Glu715fs, XP_047288575.1:p.Glu715fs, XP_047288575.1:p.Thr716fs

            6.

            rs1482513844 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              A>G [Show Flanks]
              Chromosome:
              15:28081697 (GRCh38)
              15:28326843 (GRCh37)
              Canonical SPDI:
              NC_000015.10:28081696:A:G
              Gene:
              OCA2 (Varview)
              Functional Consequence:
              upstream_transcript_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
              Clinical significance:
              uncertain-significance
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              G=0./0 (ALFA)
              G=0.000021/3 (GnomAD)
              HGVS:
              NC_000015.10:g.28081697A>G, NC_000015.9:g.28326843A>G, NG_009846.1:g.22616T>C, NM_000275.3:c.178T>C, NM_000275.2:c.178T>C, NM_001300984.2:c.178T>C, NM_001300984.1:c.178T>C, NW_011332701.1:g.215997A>G, NT_187660.1:g.215997A>G, XM_011521640.3:c.178T>C, XM_011521640.2:c.178T>C, XM_011521640.1:c.178T>C, XM_017022256.2:c.202T>C, XM_017022256.1:c.202T>C, XM_017022257.2:c.202T>C, XM_017022257.1:c.202T>C, XM_017022259.2:c.202T>C, XM_017022259.1:c.202T>C, XM_017022260.2:c.202T>C, XM_017022260.1:c.202T>C, XM_017022263.2:c.202T>C, XM_017022263.1:c.202T>C, XM_017022262.2:c.202T>C, XM_017022262.1:c.202T>C, XM_017022265.2:c.202T>C, XM_017022265.1:c.202T>C, XM_017022258.2:c.202T>C, XM_017022258.1:c.202T>C, XM_017022264.2:c.202T>C, XM_017022264.1:c.202T>C, XM_017022255.2:c.202T>C, XM_017022255.1:c.202T>C, XR_001751294.2:n.2503T>C, XR_001751294.1:n.291T>C, XM_047432615.1:c.202T>C, XM_047432608.1:c.178T>C, XM_047432612.1:c.178T>C, XM_047432617.1:c.178T>C, XM_047432606.1:c.178T>C, XM_047432618.1:c.178T>C, XM_047432619.1:c.178T>C, XM_047432610.1:c.202T>C, XM_047432616.1:c.202T>C, XM_047432609.1:c.178T>C, XM_047432605.1:c.178T>C, XM_047432607.1:c.202T>C, XM_047432611.1:c.178T>C, XM_047432613.1:c.178T>C, XM_047432614.1:c.178T>C, NP_000266.2:p.Ser60Pro, NP_001287913.1:p.Ser60Pro, XP_011519942.1:p.Ser60Pro, XP_016877745.1:p.Ser68Pro, XP_016877746.1:p.Ser68Pro, XP_016877748.1:p.Ser68Pro, XP_016877749.1:p.Ser68Pro, XP_016877752.1:p.Ser68Pro, XP_016877751.1:p.Ser68Pro, XP_016877754.1:p.Ser68Pro, XP_016877747.1:p.Ser68Pro, XP_016877753.1:p.Ser68Pro, XP_016877744.1:p.Ser68Pro, XP_047288571.1:p.Ser68Pro, XP_047288564.1:p.Ser60Pro, XP_047288568.1:p.Ser60Pro, XP_047288573.1:p.Ser60Pro, XP_047288562.1:p.Ser60Pro, XP_047288574.1:p.Ser60Pro, XP_047288575.1:p.Ser60Pro, XP_047288566.1:p.Ser68Pro, XP_047288572.1:p.Ser68Pro, XP_047288565.1:p.Ser60Pro, XP_047288561.1:p.Ser60Pro, XP_047288563.1:p.Ser68Pro, XP_047288567.1:p.Ser60Pro, XP_047288569.1:p.Ser60Pro, XP_047288570.1:p.Ser60Pro

              7.

              rs1481216126 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                ->T [Show Flanks]
                Chromosome:
                15:27719285 (GRCh38)
                15:27964432 (GRCh37)
                Canonical SPDI:
                NC_000015.10:27719285:TTTT:TTTTT
                Gene:
                OCA2 (Varview)
                Functional Consequence:
                coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                TTTTT=0./0 (ALFA)
                T=0.000007/1 (GnomAD)
                HGVS:

                8.

                rs1480043322 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  15:27951787 (GRCh38)
                  15:28196933 (GRCh37)
                  Canonical SPDI:
                  NC_000015.10:27951786:G:A
                  Gene:
                  OCA2 (Varview)
                  Functional Consequence:
                  missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
                  Validated:
                  by frequency
                  MAF:
                  A=0.000016/4 (GnomAD_exomes)
                  HGVS:
                  NC_000015.10:g.27951787G>A, NC_000015.9:g.28196933G>A, NG_009846.1:g.152526C>T, NM_000275.3:c.1948C>T, NM_000275.2:c.1948C>T, NM_001300984.2:c.1876C>T, NM_001300984.1:c.1876C>T, NW_011332701.1:g.86074G>A, NT_187660.1:g.86074G>A, XM_011521640.3:c.1948C>T, XM_011521640.2:c.1948C>T, XM_011521640.1:c.1948C>T, XM_017022256.2:c.1972C>T, XM_017022256.1:c.1972C>T, XM_017022257.2:c.1900C>T, XM_017022257.1:c.1900C>T, XM_017022259.2:c.1900C>T, XM_017022259.1:c.1900C>T, XM_017022260.2:c.1834C>T, XM_017022260.1:c.1834C>T, XM_017022263.2:c.1972C>T, XM_017022263.1:c.1972C>T, XM_017022262.2:c.1972C>T, XM_017022262.1:c.1972C>T, XM_017022265.2:c.1972C>T, XM_017022265.1:c.1972C>T, XM_017022258.2:c.1972C>T, XM_017022258.1:c.1972C>T, XM_017022264.2:c.1972C>T, XM_017022264.1:c.1972C>T, XM_017022255.2:c.1972C>T, XM_017022255.1:c.1972C>T, XM_017022261.2:c.1777C>T, XM_017022261.1:c.1777C>T, XM_047432615.1:c.1900C>T, XM_047432608.1:c.1810C>T, XM_047432612.1:c.1948C>T, XM_047432613.1:c.1948C>T, XM_047432617.1:c.1876C>T, XM_047432606.1:c.1948C>T, XM_047432618.1:c.1876C>T, XM_047432619.1:c.1810C>T, XM_047432609.1:c.1876C>T, XM_047432616.1:c.1900C>T, XM_047432610.1:c.1834C>T, XM_047432605.1:c.1876C>T, XM_047432607.1:c.1900C>T, XM_047432611.1:c.1810C>T, XM_047432614.1:c.1948C>T, NP_000266.2:p.Leu650Phe, NP_001287913.1:p.Leu626Phe, XP_011519942.1:p.Leu650Phe, XP_016877745.1:p.Leu658Phe, XP_016877746.1:p.Leu634Phe, XP_016877748.1:p.Leu634Phe, XP_016877749.1:p.Leu612Phe, XP_016877752.1:p.Leu658Phe, XP_016877751.1:p.Leu658Phe, XP_016877754.1:p.Leu658Phe, XP_016877747.1:p.Leu658Phe, XP_016877753.1:p.Leu658Phe, XP_016877744.1:p.Leu658Phe, XP_016877750.1:p.Leu593Phe, XP_047288571.1:p.Leu634Phe, XP_047288564.1:p.Leu604Phe, XP_047288568.1:p.Leu650Phe, XP_047288569.1:p.Leu650Phe, XP_047288573.1:p.Leu626Phe, XP_047288562.1:p.Leu650Phe, XP_047288574.1:p.Leu626Phe, XP_047288575.1:p.Leu604Phe, XP_047288565.1:p.Leu626Phe, XP_047288572.1:p.Leu634Phe, XP_047288566.1:p.Leu612Phe, XP_047288561.1:p.Leu626Phe, XP_047288563.1:p.Leu634Phe, XP_047288567.1:p.Leu604Phe, XP_047288570.1:p.Leu650Phe

                  9.

                  rs1478488720 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    15:27985080 (GRCh38)
                    15:28230226 (GRCh37)
                    Canonical SPDI:
                    NC_000015.10:27985079:T:C
                    Gene:
                    OCA2 (Varview)
                    Functional Consequence:
                    non_coding_transcript_variant,coding_sequence_variant,missense_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000015.10:g.27985080T>C, NC_000015.9:g.28230226T>C, NG_009846.1:g.119233A>G, NM_000275.3:c.1348A>G, NM_000275.2:c.1348A>G, NM_001300984.2:c.1276A>G, NM_001300984.1:c.1276A>G, NW_011332701.1:g.119347T>C, NT_187660.1:g.119347T>C, XM_011521640.3:c.1348A>G, XM_011521640.2:c.1348A>G, XM_011521640.1:c.1348A>G, XM_017022256.2:c.1372A>G, XM_017022256.1:c.1372A>G, XM_017022257.2:c.1300A>G, XM_017022257.1:c.1300A>G, XM_017022259.2:c.1300A>G, XM_017022259.1:c.1300A>G, XM_017022260.2:c.1234A>G, XM_017022260.1:c.1234A>G, XM_017022263.2:c.1372A>G, XM_017022263.1:c.1372A>G, XM_017022262.2:c.1372A>G, XM_017022262.1:c.1372A>G, XM_017022265.2:c.1372A>G, XM_017022265.1:c.1372A>G, XM_017022258.2:c.1372A>G, XM_017022258.1:c.1372A>G, XM_017022264.2:c.1372A>G, XM_017022264.1:c.1372A>G, XM_017022255.2:c.1372A>G, XM_017022255.1:c.1372A>G, XR_001751294.2:n.3673A>G, XR_001751294.1:n.1461A>G, XM_017022261.2:c.1177A>G, XM_017022261.1:c.1177A>G, XM_047432610.1:c.1234A>G, XM_047432616.1:c.1300A>G, XM_047432608.1:c.1210A>G, XM_047432611.1:c.1210A>G, XM_047432612.1:c.1348A>G, XM_047432617.1:c.1276A>G, XM_047432606.1:c.1348A>G, XM_047432609.1:c.1276A>G, XM_047432614.1:c.1348A>G, XM_047432619.1:c.1210A>G, XM_047432605.1:c.1276A>G, XM_047432613.1:c.1348A>G, XM_047432618.1:c.1276A>G, XM_047432615.1:c.1300A>G, XM_047432607.1:c.1300A>G, NP_000266.2:p.Thr450Ala, NP_001287913.1:p.Thr426Ala, XP_011519942.1:p.Thr450Ala, XP_016877745.1:p.Thr458Ala, XP_016877746.1:p.Thr434Ala, XP_016877748.1:p.Thr434Ala, XP_016877749.1:p.Thr412Ala, XP_016877752.1:p.Thr458Ala, XP_016877751.1:p.Thr458Ala, XP_016877754.1:p.Thr458Ala, XP_016877747.1:p.Thr458Ala, XP_016877753.1:p.Thr458Ala, XP_016877744.1:p.Thr458Ala, XP_016877750.1:p.Thr393Ala, XP_047288566.1:p.Thr412Ala, XP_047288572.1:p.Thr434Ala, XP_047288564.1:p.Thr404Ala, XP_047288567.1:p.Thr404Ala, XP_047288568.1:p.Thr450Ala, XP_047288573.1:p.Thr426Ala, XP_047288562.1:p.Thr450Ala, XP_047288565.1:p.Thr426Ala, XP_047288570.1:p.Thr450Ala, XP_047288575.1:p.Thr404Ala, XP_047288561.1:p.Thr426Ala, XP_047288569.1:p.Thr450Ala, XP_047288574.1:p.Thr426Ala, XP_047288571.1:p.Thr434Ala, XP_047288563.1:p.Thr434Ala

                    10.

                    rs1478017286 [Homo sapiens]
                      Variant type:
                      DEL
                      Alleles:
                      C>- [Show Flanks]
                      Chromosome:
                      15:27926179 (GRCh38)
                      15:28171325 (GRCh37)
                      Canonical SPDI:
                      NC_000015.10:27926178:C:
                      Gene:
                      OCA2 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                      Validated:
                      by frequency
                      MAF:
                      -=0.000004/1 (GnomAD_exomes)
                      HGVS:
                      NC_000015.10:g.27926179del, NC_000015.9:g.28171325del, NG_009846.1:g.178134del, NM_000275.3:c.2027del, NM_000275.2:c.2027del, NM_001300984.2:c.1955del, NM_001300984.1:c.1955del, NW_011332701.1:g.60466del, NT_187660.1:g.60466del, XM_011521640.3:c.2027del, XM_011521640.2:c.2027del, XM_011521640.1:c.2027del, XM_017022256.2:c.2051del, XM_017022256.1:c.2051del, XM_017022257.2:c.1979del, XM_017022257.1:c.1979del, XM_017022259.2:c.1979del, XM_017022259.1:c.1979del, XM_017022260.2:c.1913del, XM_017022260.1:c.1913del, XM_017022263.2:c.2051del, XM_017022263.1:c.2051del, XM_017022262.2:c.2051del, XM_017022262.1:c.2051del, XM_017022264.2:c.2051del, XM_017022264.1:c.2051del, XM_017022255.2:c.2051del, XM_017022255.1:c.2051del, XM_017022261.2:c.1856del, XM_017022261.1:c.1856del, XM_017022258.2:c.2051del, XM_017022258.1:c.2051del, XM_047432615.1:c.1979del, XM_047432607.1:c.1979del, XM_047432605.1:c.1955del, XM_047432608.1:c.1889del, XM_047432611.1:c.1889del, XM_047432613.1:c.2027del, XM_047432612.1:c.2027del, XM_047432617.1:c.1955del, XM_047432606.1:c.2027del, XM_047432609.1:c.1955del, XM_047432614.1:c.2027del, XM_047432618.1:c.1955del, XM_047432619.1:c.1889del, XM_047432616.1:c.1979del, XM_047432610.1:c.1913del, NP_000266.2:p.Arg676fs, NP_001287913.1:p.Arg652fs, XP_011519942.1:p.Arg676fs, XP_016877745.1:p.Arg684fs, XP_016877746.1:p.Arg660fs, XP_016877748.1:p.Arg660fs, XP_016877749.1:p.Arg638fs, XP_016877752.1:p.Arg684fs, XP_016877751.1:p.Arg684fs, XP_016877753.1:p.Arg684fs, XP_016877744.1:p.Arg684fs, XP_016877750.1:p.Arg619fs, XP_016877747.1:p.Arg684fs, XP_047288571.1:p.Arg660fs, XP_047288563.1:p.Arg660fs, XP_047288561.1:p.Arg652fs, XP_047288564.1:p.Arg630fs, XP_047288567.1:p.Arg630fs, XP_047288569.1:p.Arg676fs, XP_047288568.1:p.Arg676fs, XP_047288573.1:p.Arg652fs, XP_047288562.1:p.Arg676fs, XP_047288565.1:p.Arg652fs, XP_047288570.1:p.Arg676fs, XP_047288574.1:p.Arg652fs, XP_047288575.1:p.Arg630fs, XP_047288572.1:p.Arg660fs, XP_047288566.1:p.Arg638fs

                      11.

                      rs1477461829 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        A>G [Show Flanks]
                        Chromosome:
                        15:27989635 (GRCh38)
                        15:28234781 (GRCh37)
                        Canonical SPDI:
                        NC_000015.10:27989634:A:G
                        Gene:
                        OCA2 (Varview)
                        Functional Consequence:
                        non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
                        Validated:
                        by frequency
                        MAF:
                        G=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000015.10:g.27989635A>G, NC_000015.9:g.28234781A>G, NG_009846.1:g.114678T>C, NM_000275.3:c.1148T>C, NM_000275.2:c.1148T>C, NM_001300984.2:c.1076T>C, NM_001300984.1:c.1076T>C, NW_011332701.1:g.123904A>G, NT_187660.1:g.123904A>G, XM_011521640.3:c.1148T>C, XM_011521640.2:c.1148T>C, XM_011521640.1:c.1148T>C, XM_017022256.2:c.1172T>C, XM_017022256.1:c.1172T>C, XM_017022257.2:c.1100T>C, XM_017022257.1:c.1100T>C, XM_017022259.2:c.1100T>C, XM_017022259.1:c.1100T>C, XM_017022263.2:c.1172T>C, XM_017022263.1:c.1172T>C, XM_017022262.2:c.1172T>C, XM_017022262.1:c.1172T>C, XM_017022265.2:c.1172T>C, XM_017022265.1:c.1172T>C, XM_017022258.2:c.1172T>C, XM_017022258.1:c.1172T>C, XM_017022264.2:c.1172T>C, XM_017022264.1:c.1172T>C, XM_017022255.2:c.1172T>C, XM_017022255.1:c.1172T>C, XR_001751294.2:n.3473T>C, XR_001751294.1:n.1261T>C, XM_017022261.2:c.977T>C, XM_017022261.1:c.977T>C, XM_047432616.1:c.1100T>C, XM_047432612.1:c.1148T>C, XM_047432617.1:c.1076T>C, XM_047432606.1:c.1148T>C, XM_047432609.1:c.1076T>C, XM_047432614.1:c.1148T>C, XM_047432605.1:c.1076T>C, XM_047432613.1:c.1148T>C, XM_047432618.1:c.1076T>C, XM_047432615.1:c.1100T>C, XM_047432607.1:c.1100T>C, NP_000266.2:p.Ile383Thr, NP_001287913.1:p.Ile359Thr, XP_011519942.1:p.Ile383Thr, XP_016877745.1:p.Ile391Thr, XP_016877746.1:p.Ile367Thr, XP_016877748.1:p.Ile367Thr, XP_016877752.1:p.Ile391Thr, XP_016877751.1:p.Ile391Thr, XP_016877754.1:p.Ile391Thr, XP_016877747.1:p.Ile391Thr, XP_016877753.1:p.Ile391Thr, XP_016877744.1:p.Ile391Thr, XP_016877750.1:p.Ile326Thr, XP_047288572.1:p.Ile367Thr, XP_047288568.1:p.Ile383Thr, XP_047288573.1:p.Ile359Thr, XP_047288562.1:p.Ile383Thr, XP_047288565.1:p.Ile359Thr, XP_047288570.1:p.Ile383Thr, XP_047288561.1:p.Ile359Thr, XP_047288569.1:p.Ile383Thr, XP_047288574.1:p.Ile359Thr, XP_047288571.1:p.Ile367Thr, XP_047288563.1:p.Ile367Thr

                        12.

                        rs1476244464 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>G [Show Flanks]
                          Chromosome:
                          15:27871919 (GRCh38)
                          15:28117065 (GRCh37)
                          Canonical SPDI:
                          NC_000015.10:27871918:A:G
                          Gene:
                          OCA2 (Varview)
                          Functional Consequence:
                          intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                          Validated:
                          by frequency
                          MAF:
                          G=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000015.10:g.27871919A>G, NC_000015.9:g.28117065A>G, NG_009846.1:g.232394T>C, NM_000275.3:c.2083T>C, NM_000275.2:c.2083T>C, NM_001300984.2:c.2011T>C, NM_001300984.1:c.2011T>C, NW_011332701.1:g.6206A>G, NT_187660.1:g.6206A>G, XM_011521640.3:c.2083T>C, XM_011521640.2:c.2083T>C, XM_011521640.1:c.2083T>C, XM_017022256.2:c.2107T>C, XM_017022256.1:c.2107T>C, XM_017022257.2:c.2035T>C, XM_017022257.1:c.2035T>C, XM_017022259.2:c.2035T>C, XM_017022259.1:c.2035T>C, XM_017022260.2:c.1969T>C, XM_017022260.1:c.1969T>C, XM_017022262.2:c.2107T>C, XM_017022262.1:c.2107T>C, XM_017022255.2:c.2107T>C, XM_017022255.1:c.2107T>C, XM_017022261.2:c.1912T>C, XM_017022261.1:c.1912T>C, XM_017022258.2:c.2107T>C, XM_017022258.1:c.2107T>C, XM_047432615.1:c.2035T>C, XM_047432607.1:c.2035T>C, XM_047432605.1:c.2011T>C, XM_047432608.1:c.1945T>C, XM_047432611.1:c.1945T>C, XM_047432612.1:c.2083T>C, XM_047432606.1:c.2083T>C, XM_047432609.1:c.2011T>C, XM_047432610.1:c.1969T>C

                          13.

                          rs1476192724 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            T>- [Show Flanks]
                            Chromosome:
                            15:27955192 (GRCh38)
                            15:28200338 (GRCh37)
                            Canonical SPDI:
                            NC_000015.10:27955191:TTTTT:TTTT
                            Gene:
                            OCA2 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
                            Clinical significance:
                            pathogenic
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            TTTT=0./0 (ALFA)
                            -=0.000008/2 (GnomAD_exomes)
                            -=0.000008/2 (TOPMED)
                            HGVS:
                            NC_000015.10:g.27955196del, NC_000015.9:g.28200342del, NG_009846.1:g.149121del, NM_000275.3:c.1808del, NM_000275.2:c.1808del, NM_001300984.2:c.1736del, NM_001300984.1:c.1736del, NW_011332701.1:g.89483del, NT_187660.1:g.89483del, XM_011521640.3:c.1808del, XM_011521640.2:c.1808del, XM_011521640.1:c.1808del, XM_017022256.2:c.1832del, XM_017022256.1:c.1832del, XM_017022257.2:c.1760del, XM_017022257.1:c.1760del, XM_017022259.2:c.1760del, XM_017022259.1:c.1760del, XM_017022260.2:c.1694del, XM_017022260.1:c.1694del, XM_017022263.2:c.1832del, XM_017022263.1:c.1832del, XM_017022262.2:c.1832del, XM_017022262.1:c.1832del, XM_017022265.2:c.1832del, XM_017022265.1:c.1832del, XM_017022258.2:c.1832del, XM_017022258.1:c.1832del, XM_017022264.2:c.1832del, XM_017022264.1:c.1832del, XM_017022255.2:c.1832del, XM_017022255.1:c.1832del, XM_017022261.2:c.1637del, XM_017022261.1:c.1637del, XM_047432615.1:c.1760del, XM_047432608.1:c.1670del, XM_047432612.1:c.1808del, XM_047432613.1:c.1808del, XM_047432617.1:c.1736del, XM_047432606.1:c.1808del, XM_047432618.1:c.1736del, XM_047432619.1:c.1670del, XM_047432609.1:c.1736del, XM_047432616.1:c.1760del, XM_047432610.1:c.1694del, XM_047432605.1:c.1736del, XM_047432607.1:c.1760del, XM_047432611.1:c.1670del, XM_047432614.1:c.1808del, NP_000266.2:p.Asn603fs, NP_001287913.1:p.Asn579fs, XP_011519942.1:p.Asn603fs, XP_016877745.1:p.Asn611fs, XP_016877746.1:p.Asn587fs, XP_016877748.1:p.Asn587fs, XP_016877749.1:p.Asn565fs, XP_016877752.1:p.Asn611fs, XP_016877751.1:p.Asn611fs, XP_016877754.1:p.Asn611fs, XP_016877747.1:p.Asn611fs, XP_016877753.1:p.Asn611fs, XP_016877744.1:p.Asn611fs, XP_016877750.1:p.Asn546fs, XP_047288571.1:p.Asn587fs, XP_047288564.1:p.Asn557fs, XP_047288568.1:p.Asn603fs, XP_047288569.1:p.Asn603fs, XP_047288573.1:p.Asn579fs, XP_047288562.1:p.Asn603fs, XP_047288574.1:p.Asn579fs, XP_047288575.1:p.Asn557fs, XP_047288565.1:p.Asn579fs, XP_047288572.1:p.Asn587fs, XP_047288566.1:p.Asn565fs, XP_047288561.1:p.Asn579fs, XP_047288563.1:p.Asn587fs, XP_047288567.1:p.Asn557fs, XP_047288570.1:p.Asn603fs

                            14.

                            rs1475892910 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              15:28027910 (GRCh38)
                              15:28273056 (GRCh37)
                              Canonical SPDI:
                              NC_000015.10:28027909:A:G
                              Gene:
                              OCA2 (Varview)
                              Functional Consequence:
                              non_coding_transcript_variant,coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000015.10:g.28027910A>G, NC_000015.9:g.28273056A>G, NG_009846.1:g.76403T>C, NM_000275.3:c.476T>C, NM_000275.2:c.476T>C, NM_001300984.2:c.476T>C, NM_001300984.1:c.476T>C, NW_011332701.1:g.162209A>G, NT_187660.1:g.162209A>G, XM_011521640.3:c.476T>C, XM_011521640.2:c.476T>C, XM_011521640.1:c.476T>C, XM_017022256.2:c.500T>C, XM_017022256.1:c.500T>C, XM_017022257.2:c.500T>C, XM_017022257.1:c.500T>C, XM_017022259.2:c.500T>C, XM_017022259.1:c.500T>C, XM_017022260.2:c.500T>C, XM_017022260.1:c.500T>C, XM_017022263.2:c.500T>C, XM_017022263.1:c.500T>C, XM_017022262.2:c.500T>C, XM_017022262.1:c.500T>C, XM_017022265.2:c.500T>C, XM_017022265.1:c.500T>C, XM_017022258.2:c.500T>C, XM_017022258.1:c.500T>C, XM_017022264.2:c.500T>C, XM_017022264.1:c.500T>C, XM_017022255.2:c.500T>C, XM_017022255.1:c.500T>C, XR_001751294.2:n.2801T>C, XR_001751294.1:n.589T>C, XM_017022261.2:c.305T>C, XM_017022261.1:c.305T>C, XM_047432610.1:c.500T>C, XM_047432616.1:c.500T>C, XM_047432608.1:c.476T>C, XM_047432611.1:c.476T>C, XM_047432612.1:c.476T>C, XM_047432617.1:c.476T>C, XM_047432606.1:c.476T>C, XM_047432609.1:c.476T>C, XM_047432614.1:c.476T>C, XM_047432619.1:c.476T>C, XM_047432605.1:c.476T>C, XM_047432613.1:c.476T>C, XM_047432618.1:c.476T>C, XM_047432615.1:c.500T>C, XM_047432607.1:c.500T>C, NP_000266.2:p.Leu159Pro, NP_001287913.1:p.Leu159Pro, XP_011519942.1:p.Leu159Pro, XP_016877745.1:p.Leu167Pro, XP_016877746.1:p.Leu167Pro, XP_016877748.1:p.Leu167Pro, XP_016877749.1:p.Leu167Pro, XP_016877752.1:p.Leu167Pro, XP_016877751.1:p.Leu167Pro, XP_016877754.1:p.Leu167Pro, XP_016877747.1:p.Leu167Pro, XP_016877753.1:p.Leu167Pro, XP_016877744.1:p.Leu167Pro, XP_016877750.1:p.Leu102Pro, XP_047288566.1:p.Leu167Pro, XP_047288572.1:p.Leu167Pro, XP_047288564.1:p.Leu159Pro, XP_047288567.1:p.Leu159Pro, XP_047288568.1:p.Leu159Pro, XP_047288573.1:p.Leu159Pro, XP_047288562.1:p.Leu159Pro, XP_047288565.1:p.Leu159Pro, XP_047288570.1:p.Leu159Pro, XP_047288575.1:p.Leu159Pro, XP_047288561.1:p.Leu159Pro, XP_047288569.1:p.Leu159Pro, XP_047288574.1:p.Leu159Pro, XP_047288571.1:p.Leu167Pro, XP_047288563.1:p.Leu167Pro

                              15.

                              rs1474061885 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                15:27989643 (GRCh38)
                                15:28234789 (GRCh37)
                                Canonical SPDI:
                                NC_000015.10:27989642:C:T
                                Gene:
                                OCA2 (Varview)
                                Functional Consequence:
                                non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000004/1 (TOPMED)
                                HGVS:
                                NC_000015.10:g.27989643C>T, NC_000015.9:g.28234789C>T, NG_009846.1:g.114670G>A, NM_000275.3:c.1140G>A, NM_000275.2:c.1140G>A, NM_001300984.2:c.1068G>A, NM_001300984.1:c.1068G>A, NW_011332701.1:g.123912C>T, NT_187660.1:g.123912C>T, XM_011521640.3:c.1140G>A, XM_011521640.2:c.1140G>A, XM_011521640.1:c.1140G>A, XM_017022256.2:c.1164G>A, XM_017022256.1:c.1164G>A, XM_017022257.2:c.1092G>A, XM_017022257.1:c.1092G>A, XM_017022259.2:c.1092G>A, XM_017022259.1:c.1092G>A, XM_017022263.2:c.1164G>A, XM_017022263.1:c.1164G>A, XM_017022262.2:c.1164G>A, XM_017022262.1:c.1164G>A, XM_017022265.2:c.1164G>A, XM_017022265.1:c.1164G>A, XM_017022258.2:c.1164G>A, XM_017022258.1:c.1164G>A, XM_017022264.2:c.1164G>A, XM_017022264.1:c.1164G>A, XM_017022255.2:c.1164G>A, XM_017022255.1:c.1164G>A, XR_001751294.2:n.3465G>A, XR_001751294.1:n.1253G>A, XM_017022261.2:c.969G>A, XM_017022261.1:c.969G>A, XM_047432616.1:c.1092G>A, XM_047432615.1:c.1092G>A, XM_047432607.1:c.1092G>A, XM_047432605.1:c.1068G>A, XM_047432613.1:c.1140G>A, XM_047432612.1:c.1140G>A, XM_047432617.1:c.1068G>A, XM_047432606.1:c.1140G>A, XM_047432609.1:c.1068G>A, XM_047432614.1:c.1140G>A, XM_047432618.1:c.1068G>A

                                16.

                                rs1473065693 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>C [Show Flanks]
                                  Chromosome:
                                  15:27851402 (GRCh38)
                                  15:28096548 (GRCh37)
                                  Canonical SPDI:
                                  NC_000015.10:27851401:G:C
                                  Gene:
                                  OCA2 (Varview)
                                  Functional Consequence:
                                  missense_variant,intron_variant,coding_sequence_variant,genic_downstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  C=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000015.10:g.27851402G>C, NC_000015.9:g.28096548G>C, NG_009846.1:g.252911C>G, NM_000275.3:c.2318C>G, NM_000275.2:c.2318C>G, NM_001300984.2:c.2246C>G, NM_001300984.1:c.2246C>G, XM_011521640.3:c.2360C>G, XM_011521640.2:c.2360C>G, XM_011521640.1:c.2360C>G, XM_017022256.2:c.2342C>G, XM_017022256.1:c.2342C>G, XM_017022257.2:c.2312C>G, XM_017022257.1:c.2312C>G, XM_017022259.2:c.2270C>G, XM_017022259.1:c.2270C>G, XM_017022260.2:c.2246C>G, XM_017022260.1:c.2246C>G, XM_017022263.2:c.2177C>G, XM_017022263.1:c.2177C>G, XM_017022258.2:c.2342C>G, XM_017022258.1:c.2342C>G, XM_017022264.2:c.2177C>G, XM_017022264.1:c.2177C>G, XM_017022255.2:c.2384C>G, XM_017022255.1:c.2384C>G, XM_017022261.2:c.2189C>G, XM_017022261.1:c.2189C>G, XM_047432610.1:c.2204C>G, XM_047432616.1:c.2105C>G, XM_047432607.1:c.2270C>G, XM_047432605.1:c.2288C>G, XM_047432608.1:c.2222C>G, XM_047432611.1:c.2180C>G, XM_047432613.1:c.2153C>G, XM_047432617.1:c.2081C>G, XM_047432606.1:c.2318C>G, XM_047432609.1:c.2246C>G, XM_047432614.1:c.2153C>G, XM_047432618.1:c.2081C>G, XM_047432619.1:c.2015C>G, NP_000266.2:p.Ala773Gly, NP_001287913.1:p.Ala749Gly, XP_011519942.1:p.Ala787Gly, XP_016877745.1:p.Ala781Gly, XP_016877746.1:p.Ala771Gly, XP_016877748.1:p.Ala757Gly, XP_016877749.1:p.Ala749Gly, XP_016877752.1:p.Ala726Gly, XP_016877747.1:p.Ala781Gly, XP_016877753.1:p.Ala726Gly, XP_016877744.1:p.Ala795Gly, XP_016877750.1:p.Ala730Gly, XP_047288566.1:p.Ala735Gly, XP_047288572.1:p.Ala702Gly, XP_047288563.1:p.Ala757Gly, XP_047288561.1:p.Ala763Gly, XP_047288564.1:p.Ala741Gly, XP_047288567.1:p.Ala727Gly, XP_047288569.1:p.Ala718Gly, XP_047288573.1:p.Ala694Gly, XP_047288562.1:p.Ala773Gly, XP_047288565.1:p.Ala749Gly, XP_047288570.1:p.Ala718Gly, XP_047288574.1:p.Ala694Gly, XP_047288575.1:p.Ala672Gly

                                  17.

                                  rs1470882387 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    15:28024863 (GRCh38)
                                    15:28270009 (GRCh37)
                                    Canonical SPDI:
                                    NC_000015.10:28024862:G:A
                                    Gene:
                                    OCA2 (Varview)
                                    Functional Consequence:
                                    non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000015.10:g.28024863G>A, NC_000015.9:g.28270009G>A, NG_009846.1:g.79450C>T, NM_000275.3:c.555C>T, NM_000275.2:c.555C>T, NM_001300984.2:c.555C>T, NM_001300984.1:c.555C>T, NW_011332701.1:g.159162G>A, NT_187660.1:g.159162G>A, XM_011521640.3:c.555C>T, XM_011521640.2:c.555C>T, XM_011521640.1:c.555C>T, XM_017022256.2:c.579C>T, XM_017022256.1:c.579C>T, XM_017022257.2:c.579C>T, XM_017022257.1:c.579C>T, XM_017022259.2:c.579C>T, XM_017022259.1:c.579C>T, XM_017022260.2:c.579C>T, XM_017022260.1:c.579C>T, XM_017022263.2:c.579C>T, XM_017022263.1:c.579C>T, XM_017022262.2:c.579C>T, XM_017022262.1:c.579C>T, XM_017022265.2:c.579C>T, XM_017022265.1:c.579C>T, XM_017022258.2:c.579C>T, XM_017022258.1:c.579C>T, XM_017022264.2:c.579C>T, XM_017022264.1:c.579C>T, XM_017022255.2:c.579C>T, XM_017022255.1:c.579C>T, XR_001751294.2:n.2880C>T, XR_001751294.1:n.668C>T, XM_017022261.2:c.384C>T, XM_017022261.1:c.384C>T, XM_047432610.1:c.579C>T, XM_047432616.1:c.579C>T, XM_047432615.1:c.579C>T, XM_047432607.1:c.579C>T, XM_047432605.1:c.555C>T, XM_047432608.1:c.555C>T, XM_047432611.1:c.555C>T, XM_047432613.1:c.555C>T, XM_047432612.1:c.555C>T, XM_047432617.1:c.555C>T, XM_047432606.1:c.555C>T, XM_047432609.1:c.555C>T, XM_047432614.1:c.555C>T, XM_047432618.1:c.555C>T, XM_047432619.1:c.555C>T

                                    18.

                                    rs1470522588 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ->GGAGTCC [Show Flanks]
                                      Chromosome:
                                      15:28018528 (GRCh38)
                                      15:28263675 (GRCh37)
                                      Canonical SPDI:
                                      NC_000015.10:28018528:GGAGTCC:GGAGTCCGGAGTCC
                                      Gene:
                                      OCA2 (Varview)
                                      Functional Consequence:
                                      non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      GGAGTCCGGAGTCC=0./0 (ALFA)
                                      GGAGTCC=0.000004/1 (GnomAD_exomes)
                                      GGAGTCC=0.000008/2 (TOPMED)
                                      GGAGTCC=0.000021/3 (GnomAD)
                                      HGVS:
                                      NC_000015.10:g.28018529_28018535dup, NC_000015.9:g.28263675_28263681dup, NG_009846.1:g.85778_85784dup, NM_000275.3:c.669_675dup, NM_000275.2:c.669_675dup, NM_001300984.2:c.669_675dup, NM_001300984.1:c.669_675dup, NW_011332701.1:g.152829_152835dup, NT_187660.1:g.152829_152835dup, XM_011521640.3:c.669_675dup, XM_011521640.2:c.669_675dup, XM_011521640.1:c.669_675dup, XM_017022256.2:c.693_699dup, XM_017022256.1:c.693_699dup, XM_017022257.2:c.693_699dup, XM_017022257.1:c.693_699dup, XM_017022259.2:c.693_699dup, XM_017022259.1:c.693_699dup, XM_017022260.2:c.693_699dup, XM_017022260.1:c.693_699dup, XM_017022263.2:c.693_699dup, XM_017022263.1:c.693_699dup, XM_017022262.2:c.693_699dup, XM_017022262.1:c.693_699dup, XM_017022265.2:c.693_699dup, XM_017022265.1:c.693_699dup, XM_017022258.2:c.693_699dup, XM_017022258.1:c.693_699dup, XM_017022264.2:c.693_699dup, XM_017022264.1:c.693_699dup, XM_017022255.2:c.693_699dup, XM_017022255.1:c.693_699dup, XR_001751294.2:n.2994_3000dup, XR_001751294.1:n.782_788dup, XM_017022261.2:c.498_504dup, XM_017022261.1:c.498_504dup, XM_047432610.1:c.693_699dup, XM_047432616.1:c.693_699dup, XM_047432615.1:c.693_699dup, XM_047432607.1:c.693_699dup, XM_047432605.1:c.669_675dup, XM_047432608.1:c.669_675dup, XM_047432611.1:c.669_675dup, XM_047432613.1:c.669_675dup, XM_047432612.1:c.669_675dup, XM_047432617.1:c.669_675dup, XM_047432606.1:c.669_675dup, XM_047432609.1:c.669_675dup, XM_047432614.1:c.669_675dup, XM_047432618.1:c.669_675dup, XM_047432619.1:c.669_675dup, NP_000266.2:p.Thr226fs, NP_001287913.1:p.Thr226fs, XP_011519942.1:p.Thr226fs, XP_016877745.1:p.Thr234fs, XP_016877746.1:p.Thr234fs, XP_016877748.1:p.Thr234fs, XP_016877749.1:p.Thr234fs, XP_016877752.1:p.Thr234fs, XP_016877751.1:p.Thr234fs, XP_016877754.1:p.Thr234fs, XP_016877747.1:p.Thr234fs, XP_016877753.1:p.Thr234fs, XP_016877744.1:p.Thr234fs, XP_016877750.1:p.Thr169fs, XP_047288566.1:p.Thr234fs, XP_047288572.1:p.Thr234fs, XP_047288571.1:p.Thr234fs, XP_047288563.1:p.Thr234fs, XP_047288561.1:p.Thr226fs, XP_047288564.1:p.Thr226fs, XP_047288567.1:p.Thr226fs, XP_047288569.1:p.Thr226fs, XP_047288568.1:p.Thr226fs, XP_047288573.1:p.Thr226fs, XP_047288562.1:p.Thr226fs, XP_047288565.1:p.Thr226fs, XP_047288570.1:p.Thr226fs, XP_047288574.1:p.Thr226fs, XP_047288575.1:p.Thr226fs

                                      19.

                                      rs1468469473 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A,C [Show Flanks]
                                        Chromosome:
                                        15:27957666 (GRCh38)
                                        15:28202812 (GRCh37)
                                        Canonical SPDI:
                                        NC_000015.10:27957665:G:A,NC_000015.10:27957665:G:C
                                        Gene:
                                        OCA2 (Varview)
                                        Functional Consequence:
                                        non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        C=0.000004/1 (GnomAD_exomes)
                                        A=0.000004/1 (TOPMED)
                                        HGVS:
                                        NC_000015.10:g.27957666G>A, NC_000015.10:g.27957666G>C, NC_000015.9:g.28202812G>A, NC_000015.9:g.28202812G>C, NG_009846.1:g.146647C>T, NG_009846.1:g.146647C>G, NM_000275.3:c.1706C>T, NM_000275.3:c.1706C>G, NM_000275.2:c.1706C>T, NM_000275.2:c.1706C>G, NM_001300984.2:c.1634C>T, NM_001300984.2:c.1634C>G, NM_001300984.1:c.1634C>T, NM_001300984.1:c.1634C>G, NW_011332701.1:g.91953G>A, NW_011332701.1:g.91953G>C, NT_187660.1:g.91953G>A, NT_187660.1:g.91953G>C, XM_011521640.3:c.1706C>T, XM_011521640.3:c.1706C>G, XM_011521640.2:c.1706C>T, XM_011521640.2:c.1706C>G, XM_011521640.1:c.1706C>T, XM_011521640.1:c.1706C>G, XM_017022256.2:c.1730C>T, XM_017022256.2:c.1730C>G, XM_017022256.1:c.1730C>T, XM_017022256.1:c.1730C>G, XM_017022257.2:c.1658C>T, XM_017022257.2:c.1658C>G, XM_017022257.1:c.1658C>T, XM_017022257.1:c.1658C>G, XM_017022259.2:c.1658C>T, XM_017022259.2:c.1658C>G, XM_017022259.1:c.1658C>T, XM_017022259.1:c.1658C>G, XM_017022260.2:c.1592C>T, XM_017022260.2:c.1592C>G, XM_017022260.1:c.1592C>T, XM_017022260.1:c.1592C>G, XM_017022263.2:c.1730C>T, XM_017022263.2:c.1730C>G, XM_017022263.1:c.1730C>T, XM_017022263.1:c.1730C>G, XM_017022262.2:c.1730C>T, XM_017022262.2:c.1730C>G, XM_017022262.1:c.1730C>T, XM_017022262.1:c.1730C>G, XM_017022265.2:c.1730C>T, XM_017022265.2:c.1730C>G, XM_017022265.1:c.1730C>T, XM_017022265.1:c.1730C>G, XM_017022258.2:c.1730C>T, XM_017022258.2:c.1730C>G, XM_017022258.1:c.1730C>T, XM_017022258.1:c.1730C>G, XM_017022264.2:c.1730C>T, XM_017022264.2:c.1730C>G, XM_017022264.1:c.1730C>T, XM_017022264.1:c.1730C>G, XM_017022255.2:c.1730C>T, XM_017022255.2:c.1730C>G, XM_017022255.1:c.1730C>T, XM_017022255.1:c.1730C>G, XR_001751294.2:n.4169C>T, XR_001751294.2:n.4169C>G, XR_001751294.1:n.1957C>T, XR_001751294.1:n.1957C>G, XM_017022261.2:c.1535C>T, XM_017022261.2:c.1535C>G, XM_017022261.1:c.1535C>T, XM_017022261.1:c.1535C>G, XM_047432610.1:c.1592C>T, XM_047432610.1:c.1592C>G, XM_047432616.1:c.1658C>T, XM_047432616.1:c.1658C>G, XM_047432608.1:c.1568C>T, XM_047432608.1:c.1568C>G, XM_047432611.1:c.1568C>T, XM_047432611.1:c.1568C>G, XM_047432612.1:c.1706C>T, XM_047432612.1:c.1706C>G, XM_047432617.1:c.1634C>T, XM_047432617.1:c.1634C>G, XM_047432606.1:c.1706C>T, XM_047432606.1:c.1706C>G, XM_047432609.1:c.1634C>T, XM_047432609.1:c.1634C>G, XM_047432614.1:c.1706C>T, XM_047432614.1:c.1706C>G, XM_047432619.1:c.1568C>T, XM_047432619.1:c.1568C>G, XM_047432605.1:c.1634C>T, XM_047432605.1:c.1634C>G, XM_047432613.1:c.1706C>T, XM_047432613.1:c.1706C>G, XM_047432618.1:c.1634C>T, XM_047432618.1:c.1634C>G, XM_047432615.1:c.1658C>T, XM_047432615.1:c.1658C>G, XM_047432607.1:c.1658C>T, XM_047432607.1:c.1658C>G, NP_000266.2:p.Thr569Ile, NP_000266.2:p.Thr569Arg, NP_001287913.1:p.Thr545Ile, NP_001287913.1:p.Thr545Arg, XP_011519942.1:p.Thr569Ile, XP_011519942.1:p.Thr569Arg, XP_016877745.1:p.Thr577Ile, XP_016877745.1:p.Thr577Arg, XP_016877746.1:p.Thr553Ile, XP_016877746.1:p.Thr553Arg, XP_016877748.1:p.Thr553Ile, XP_016877748.1:p.Thr553Arg, XP_016877749.1:p.Thr531Ile, XP_016877749.1:p.Thr531Arg, XP_016877752.1:p.Thr577Ile, XP_016877752.1:p.Thr577Arg, XP_016877751.1:p.Thr577Ile, XP_016877751.1:p.Thr577Arg, XP_016877754.1:p.Thr577Ile, XP_016877754.1:p.Thr577Arg, XP_016877747.1:p.Thr577Ile, XP_016877747.1:p.Thr577Arg, XP_016877753.1:p.Thr577Ile, XP_016877753.1:p.Thr577Arg, XP_016877744.1:p.Thr577Ile, XP_016877744.1:p.Thr577Arg, XP_016877750.1:p.Thr512Ile, XP_016877750.1:p.Thr512Arg, XP_047288566.1:p.Thr531Ile, XP_047288566.1:p.Thr531Arg, XP_047288572.1:p.Thr553Ile, XP_047288572.1:p.Thr553Arg, XP_047288564.1:p.Thr523Ile, XP_047288564.1:p.Thr523Arg, XP_047288567.1:p.Thr523Ile, XP_047288567.1:p.Thr523Arg, XP_047288568.1:p.Thr569Ile, XP_047288568.1:p.Thr569Arg, XP_047288573.1:p.Thr545Ile, XP_047288573.1:p.Thr545Arg, XP_047288562.1:p.Thr569Ile, XP_047288562.1:p.Thr569Arg, XP_047288565.1:p.Thr545Ile, XP_047288565.1:p.Thr545Arg, XP_047288570.1:p.Thr569Ile, XP_047288570.1:p.Thr569Arg, XP_047288575.1:p.Thr523Ile, XP_047288575.1:p.Thr523Arg, XP_047288561.1:p.Thr545Ile, XP_047288561.1:p.Thr545Arg, XP_047288569.1:p.Thr569Ile, XP_047288569.1:p.Thr569Arg, XP_047288574.1:p.Thr545Ile, XP_047288574.1:p.Thr545Arg, XP_047288571.1:p.Thr553Ile, XP_047288571.1:p.Thr553Arg, XP_047288563.1:p.Thr553Ile, XP_047288563.1:p.Thr553Arg

                                        20.

                                        rs1467127734 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          15:27966818 (GRCh38)
                                          15:28211964 (GRCh37)
                                          Canonical SPDI:
                                          NC_000015.10:27966817:A:G
                                          Gene:
                                          OCA2 (Varview)
                                          Functional Consequence:
                                          non_coding_transcript_variant,coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000015.10:g.27966818A>G, NC_000015.9:g.28211964A>G, NG_009846.1:g.137495T>C, NM_000275.3:c.1508T>C, NM_000275.2:c.1508T>C, NM_001300984.2:c.1436T>C, NM_001300984.1:c.1436T>C, NW_011332701.1:g.101097A>G, NT_187660.1:g.101097A>G, XM_011521640.3:c.1508T>C, XM_011521640.2:c.1508T>C, XM_011521640.1:c.1508T>C, XM_017022256.2:c.1532T>C, XM_017022256.1:c.1532T>C, XM_017022257.2:c.1460T>C, XM_017022257.1:c.1460T>C, XM_017022259.2:c.1460T>C, XM_017022259.1:c.1460T>C, XM_017022260.2:c.1394T>C, XM_017022260.1:c.1394T>C, XM_017022263.2:c.1532T>C, XM_017022263.1:c.1532T>C, XM_017022262.2:c.1532T>C, XM_017022262.1:c.1532T>C, XM_017022265.2:c.1532T>C, XM_017022265.1:c.1532T>C, XM_017022258.2:c.1532T>C, XM_017022258.1:c.1532T>C, XM_017022264.2:c.1532T>C, XM_017022264.1:c.1532T>C, XM_017022255.2:c.1532T>C, XM_017022255.1:c.1532T>C, XR_001751294.2:n.3833T>C, XR_001751294.1:n.1621T>C, XM_017022261.2:c.1337T>C, XM_017022261.1:c.1337T>C, XM_047432610.1:c.1394T>C, XM_047432616.1:c.1460T>C, XM_047432615.1:c.1460T>C, XM_047432607.1:c.1460T>C, XM_047432605.1:c.1436T>C, XM_047432608.1:c.1370T>C, XM_047432611.1:c.1370T>C, XM_047432613.1:c.1508T>C, XM_047432612.1:c.1508T>C, XM_047432617.1:c.1436T>C, XM_047432606.1:c.1508T>C, XM_047432609.1:c.1436T>C, XM_047432614.1:c.1508T>C, XM_047432618.1:c.1436T>C, XM_047432619.1:c.1370T>C, NP_000266.2:p.Leu503Pro, NP_001287913.1:p.Leu479Pro, XP_011519942.1:p.Leu503Pro, XP_016877745.1:p.Leu511Pro, XP_016877746.1:p.Leu487Pro, XP_016877748.1:p.Leu487Pro, XP_016877749.1:p.Leu465Pro, XP_016877752.1:p.Leu511Pro, XP_016877751.1:p.Leu511Pro, XP_016877754.1:p.Leu511Pro, XP_016877747.1:p.Leu511Pro, XP_016877753.1:p.Leu511Pro, XP_016877744.1:p.Leu511Pro, XP_016877750.1:p.Leu446Pro, XP_047288566.1:p.Leu465Pro, XP_047288572.1:p.Leu487Pro, XP_047288571.1:p.Leu487Pro, XP_047288563.1:p.Leu487Pro, XP_047288561.1:p.Leu479Pro, XP_047288564.1:p.Leu457Pro, XP_047288567.1:p.Leu457Pro, XP_047288569.1:p.Leu503Pro, XP_047288568.1:p.Leu503Pro, XP_047288573.1:p.Leu479Pro, XP_047288562.1:p.Leu503Pro, XP_047288565.1:p.Leu479Pro, XP_047288570.1:p.Leu503Pro, XP_047288574.1:p.Leu479Pro, XP_047288575.1:p.Leu457Pro

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