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Items: 1 to 20 of 691

1.

rs1488122875 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>T [Show Flanks]
    Chromosome:
    12:108792169 (GRCh38)
    12:109185945 (GRCh37)
    Canonical SPDI:
    NC_000012.12:108792168:A:T
    Gene:
    SSH1 (Varview)
    Functional Consequence:
    intron_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000006/1 (GnomAD_exomes)
    T=0.000007/1 (GnomAD)
    T=0.000008/2 (TOPMED)
    HGVS:

    2.

    rs1487464498 [Homo sapiens]
      Variant type:
      DELINS
      Alleles:
      CA>- [Show Flanks]
      Chromosome:
      12:108792488 (GRCh38)
      12:109186264 (GRCh37)
      Canonical SPDI:
      NC_000012.12:108792485:CACA:CA
      Gene:
      SSH1 (Varview)
      Functional Consequence:
      coding_sequence_variant,stop_gained,inframe_indel
      Validated:
      by frequency,by alfa
      MAF:
      CACA=0./0 (ALFA)
      -=0.000008/2 (TOPMED)
      HGVS:
      NC_000012.12:g.108792486CA[1], NC_000012.11:g.109186262CA[1], NG_029846.1:g.70095TG[1], NM_018984.3:c.1692_1693del, NM_018984.4:c.1692_1693del, NM_001161331.1:c.1725_1726del, NM_001161330.1:c.1692_1693del, NM_001161330.2:c.1692_1693del, XM_005268984.5:c.1692_1693del, XM_005268984.4:c.1692_1693del, XM_005268984.3:c.1692_1693del, XM_005268984.2:c.1692_1693del, XM_005268984.1:c.1692_1693del, XM_011538500.4:c.1452_1453del, XM_011538500.3:c.1452_1453del, XM_011538500.2:c.1452_1453del, XM_011538500.1:c.1452_1453del, XM_011538501.4:c.1452_1453del, XM_011538501.3:c.1452_1453del, XM_011538501.2:c.1452_1453del, XM_011538501.1:c.1452_1453del, XM_017019491.3:c.1644_1645del, XM_017019491.2:c.1644_1645del, XM_017019491.1:c.1644_1645del, XM_005268985.3:c.1452_1453del, XM_005268985.2:c.1452_1453del, XM_005268985.1:c.1452_1453del, XM_011538497.2:c.1725_1726del, XM_011538497.1:c.1725_1726del, XM_011538499.2:c.1524_1525del, XM_011538499.1:c.1524_1525del, XM_047429024.1:c.1443_1444del, XM_047429021.1:c.1563_1564del, XM_047429022.1:c.1563_1564del, XM_047429023.1:c.1491_1492del, XM_047429025.1:c.1314_1315del, XM_047429026.1:c.756_757del, NP_061857.3:p.Cys564_Glu565delinsTer, NP_001154803.1:p.Cys575_Glu576delinsTer, NP_001154802.1:p.Cys564_Glu565delinsTer, XP_005269041.1:p.Cys564_Glu565delinsTer, XP_011536802.1:p.Cys484_Glu485delinsTer, XP_011536803.1:p.Cys484_Glu485delinsTer, XP_016874980.1:p.Cys548_Glu549delinsTer, XP_005269042.1:p.Cys484_Glu485delinsTer, XP_011536799.1:p.Cys575_Glu576delinsTer, XP_011536801.1:p.Cys508_Glu509delinsTer, XP_047284980.1:p.Cys481_Glu482delinsTer, XP_047284977.1:p.Cys521_Glu522delinsTer, XP_047284978.1:p.Cys521_Glu522delinsTer, XP_047284979.1:p.Cys497_Glu498delinsTer, XP_047284981.1:p.Cys438_Glu439delinsTer, XP_047284982.1:p.Cys252_Glu253delinsTer

      3.

      rs1486845680 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        T>G [Show Flanks]
        Chromosome:
        12:108799087 (GRCh38)
        12:109192863 (GRCh37)
        Canonical SPDI:
        NC_000012.12:108799086:T:G
        Gene:
        SSH1 (Varview)
        Functional Consequence:
        intron_variant,coding_sequence_variant,missense_variant
        Validated:
        by frequency
        MAF:
        G=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.108799087T>G, NC_000012.11:g.109192863T>G, NG_029846.1:g.63497A>C, NM_018984.3:c.1262A>C, NM_018984.4:c.1262A>C, NM_001161331.1:c.1295A>C, NM_001161330.1:c.1262A>C, NM_001161330.2:c.1262A>C, XM_005268984.5:c.1262A>C, XM_005268984.4:c.1262A>C, XM_005268984.3:c.1262A>C, XM_005268984.2:c.1262A>C, XM_005268984.1:c.1262A>C, XM_011538500.4:c.1022A>C, XM_011538500.3:c.1022A>C, XM_011538500.2:c.1022A>C, XM_011538500.1:c.1022A>C, XM_011538501.4:c.1022A>C, XM_011538501.3:c.1022A>C, XM_011538501.2:c.1022A>C, XM_011538501.1:c.1022A>C, XM_017019491.3:c.1214A>C, XM_017019491.2:c.1214A>C, XM_017019491.1:c.1214A>C, XM_005268985.3:c.1022A>C, XM_005268985.2:c.1022A>C, XM_005268985.1:c.1022A>C, XM_011538497.2:c.1295A>C, XM_011538497.1:c.1295A>C, XM_047429021.1:c.1133A>C, XM_047429022.1:c.1133A>C, XM_047429025.1:c.884A>C, XM_047429026.1:c.326A>C, NP_061857.3:p.Asn421Thr, NP_001154803.1:p.Asn432Thr, NP_001154802.1:p.Asn421Thr, XP_005269041.1:p.Asn421Thr, XP_011536802.1:p.Asn341Thr, XP_011536803.1:p.Asn341Thr, XP_016874980.1:p.Asn405Thr, XP_005269042.1:p.Asn341Thr, XP_011536799.1:p.Asn432Thr, XP_047284977.1:p.Asn378Thr, XP_047284978.1:p.Asn378Thr, XP_047284981.1:p.Asn295Thr, XP_047284982.1:p.Asn109Thr

        4.

        rs1486732316 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A [Show Flanks]
          Chromosome:
          12:108792421 (GRCh38)
          12:109186197 (GRCh37)
          Canonical SPDI:
          NC_000012.12:108792420:C:A
          Gene:
          SSH1 (Varview)
          Functional Consequence:
          coding_sequence_variant,missense_variant
          Validated:
          by frequency
          MAF:
          A=0.000008/2 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.108792421C>A, NC_000012.11:g.109186197C>A, NG_029846.1:g.70163G>T, NM_018984.3:c.1758G>T, NM_018984.4:c.1758G>T, NM_001161331.1:c.1791G>T, NM_001161330.1:c.1758G>T, NM_001161330.2:c.1758G>T, XM_005268984.5:c.1758G>T, XM_005268984.4:c.1758G>T, XM_005268984.3:c.1758G>T, XM_005268984.2:c.1758G>T, XM_005268984.1:c.1758G>T, XM_011538500.4:c.1518G>T, XM_011538500.3:c.1518G>T, XM_011538500.2:c.1518G>T, XM_011538500.1:c.1518G>T, XM_011538501.4:c.1518G>T, XM_011538501.3:c.1518G>T, XM_011538501.2:c.1518G>T, XM_011538501.1:c.1518G>T, XM_017019491.3:c.1710G>T, XM_017019491.2:c.1710G>T, XM_017019491.1:c.1710G>T, XM_005268985.3:c.1518G>T, XM_005268985.2:c.1518G>T, XM_005268985.1:c.1518G>T, XM_011538497.2:c.1791G>T, XM_011538497.1:c.1791G>T, XM_011538499.2:c.1590G>T, XM_011538499.1:c.1590G>T, XM_047429024.1:c.1509G>T, XM_047429021.1:c.1629G>T, XM_047429022.1:c.1629G>T, XM_047429023.1:c.1557G>T, XM_047429025.1:c.1380G>T, XM_047429026.1:c.822G>T, NP_061857.3:p.Gln586His, NP_001154803.1:p.Gln597His, NP_001154802.1:p.Gln586His, XP_005269041.1:p.Gln586His, XP_011536802.1:p.Gln506His, XP_011536803.1:p.Gln506His, XP_016874980.1:p.Gln570His, XP_005269042.1:p.Gln506His, XP_011536799.1:p.Gln597His, XP_011536801.1:p.Gln530His, XP_047284980.1:p.Gln503His, XP_047284977.1:p.Gln543His, XP_047284978.1:p.Gln543His, XP_047284979.1:p.Gln519His, XP_047284981.1:p.Gln460His, XP_047284982.1:p.Gln274His

          5.

          rs1485817976 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            12:108792413 (GRCh38)
            12:109186189 (GRCh37)
            Canonical SPDI:
            NC_000012.12:108792412:T:C
            Gene:
            SSH1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            Validated:
            by frequency
            MAF:
            C=0.000004/1 (GnomAD_exomes)
            HGVS:
            NC_000012.12:g.108792413T>C, NC_000012.11:g.109186189T>C, NG_029846.1:g.70171A>G, NM_018984.3:c.1766A>G, NM_018984.4:c.1766A>G, NM_001161331.1:c.1799A>G, NM_001161330.1:c.1766A>G, NM_001161330.2:c.1766A>G, XM_005268984.5:c.1766A>G, XM_005268984.4:c.1766A>G, XM_005268984.3:c.1766A>G, XM_005268984.2:c.1766A>G, XM_005268984.1:c.1766A>G, XM_011538500.4:c.1526A>G, XM_011538500.3:c.1526A>G, XM_011538500.2:c.1526A>G, XM_011538500.1:c.1526A>G, XM_011538501.4:c.1526A>G, XM_011538501.3:c.1526A>G, XM_011538501.2:c.1526A>G, XM_011538501.1:c.1526A>G, XM_017019491.3:c.1718A>G, XM_017019491.2:c.1718A>G, XM_017019491.1:c.1718A>G, XM_005268985.3:c.1526A>G, XM_005268985.2:c.1526A>G, XM_005268985.1:c.1526A>G, XM_011538497.2:c.1799A>G, XM_011538497.1:c.1799A>G, XM_011538499.2:c.1598A>G, XM_011538499.1:c.1598A>G, XM_047429024.1:c.1517A>G, XM_047429021.1:c.1637A>G, XM_047429022.1:c.1637A>G, XM_047429023.1:c.1565A>G, XM_047429025.1:c.1388A>G, XM_047429026.1:c.830A>G, NP_061857.3:p.Glu589Gly, NP_001154803.1:p.Glu600Gly, NP_001154802.1:p.Glu589Gly, XP_005269041.1:p.Glu589Gly, XP_011536802.1:p.Glu509Gly, XP_011536803.1:p.Glu509Gly, XP_016874980.1:p.Glu573Gly, XP_005269042.1:p.Glu509Gly, XP_011536799.1:p.Glu600Gly, XP_011536801.1:p.Glu533Gly, XP_047284980.1:p.Glu506Gly, XP_047284977.1:p.Glu546Gly, XP_047284978.1:p.Glu546Gly, XP_047284979.1:p.Glu522Gly, XP_047284981.1:p.Glu463Gly, XP_047284982.1:p.Glu277Gly

            6.

            rs1481855816 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              12:108802325 (GRCh38)
              12:109196101 (GRCh37)
              Canonical SPDI:
              NC_000012.12:108802324:G:A
              Gene:
              SSH1 (Varview), LOC101929204 (Varview)
              Functional Consequence:
              coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0./0 (ALFA)
              A=0.000004/1 (GnomAD_exomes)
              A=0.000004/1 (TOPMED)
              HGVS:
              NC_000012.12:g.108802325G>A, NC_000012.11:g.109196101G>A, NG_029846.1:g.60259C>T, NM_018984.3:c.998C>T, NM_018984.4:c.998C>T, NM_001161331.1:c.1031C>T, NM_001161330.1:c.998C>T, NM_001161330.2:c.998C>T, XM_005268984.5:c.998C>T, XM_005268984.4:c.998C>T, XM_005268984.3:c.998C>T, XM_005268984.2:c.998C>T, XM_005268984.1:c.998C>T, XM_011538500.4:c.758C>T, XM_011538500.3:c.758C>T, XM_011538500.2:c.758C>T, XM_011538500.1:c.758C>T, XM_011538501.4:c.758C>T, XM_011538501.3:c.758C>T, XM_011538501.2:c.758C>T, XM_011538501.1:c.758C>T, XM_017019491.3:c.950C>T, XM_017019491.2:c.950C>T, XM_017019491.1:c.950C>T, XM_005268985.3:c.758C>T, XM_005268985.2:c.758C>T, XM_005268985.1:c.758C>T, XR_945329.3:n.196G>A, XM_011538497.2:c.1031C>T, XM_011538497.1:c.1031C>T, XM_011538499.2:c.1031C>T, XM_011538499.1:c.1031C>T, XM_047429024.1:c.950C>T, XM_047429021.1:c.869C>T, XM_047429022.1:c.869C>T, XM_047429023.1:c.998C>T, XM_047429025.1:c.620C>T, XR_007063451.1:n.196G>A, XR_007063452.1:n.196G>A, NP_061857.3:p.Ser333Leu, NP_001154803.1:p.Ser344Leu, NP_001154802.1:p.Ser333Leu, XP_005269041.1:p.Ser333Leu, XP_011536802.1:p.Ser253Leu, XP_011536803.1:p.Ser253Leu, XP_016874980.1:p.Ser317Leu, XP_005269042.1:p.Ser253Leu, XP_011536799.1:p.Ser344Leu, XP_011536801.1:p.Ser344Leu, XP_047284980.1:p.Ser317Leu, XP_047284977.1:p.Ser290Leu, XP_047284978.1:p.Ser290Leu, XP_047284979.1:p.Ser333Leu, XP_047284981.1:p.Ser207Leu

              7.

              rs1477607738 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                12:108792300 (GRCh38)
                12:109186076 (GRCh37)
                Canonical SPDI:
                NC_000012.12:108792299:G:A
                Gene:
                SSH1 (Varview)
                Functional Consequence:
                coding_sequence_variant,missense_variant
                Validated:
                by frequency,by cluster
                MAF:
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000012.12:g.108792300G>A, NC_000012.11:g.109186076G>A, NG_029846.1:g.70284C>T, NM_018984.3:c.1879C>T, NM_018984.4:c.1879C>T, NM_001161331.1:c.1912C>T, NM_001161330.1:c.1879C>T, NM_001161330.2:c.1879C>T, XM_005268984.5:c.1879C>T, XM_005268984.4:c.1879C>T, XM_005268984.3:c.1879C>T, XM_005268984.2:c.1879C>T, XM_005268984.1:c.1879C>T, XM_011538500.4:c.1639C>T, XM_011538500.3:c.1639C>T, XM_011538500.2:c.1639C>T, XM_011538500.1:c.1639C>T, XM_011538501.4:c.1639C>T, XM_011538501.3:c.1639C>T, XM_011538501.2:c.1639C>T, XM_011538501.1:c.1639C>T, XM_017019491.3:c.1831C>T, XM_017019491.2:c.1831C>T, XM_017019491.1:c.1831C>T, XM_005268985.3:c.1639C>T, XM_005268985.2:c.1639C>T, XM_005268985.1:c.1639C>T, XM_011538497.2:c.1912C>T, XM_011538497.1:c.1912C>T, XM_011538499.2:c.1711C>T, XM_011538499.1:c.1711C>T, XM_047429024.1:c.1630C>T, XM_047429021.1:c.1750C>T, XM_047429022.1:c.1750C>T, XM_047429023.1:c.1678C>T, XM_047429025.1:c.1501C>T, XM_047429026.1:c.943C>T, NP_061857.3:p.Pro627Ser, NP_001154803.1:p.Pro638Ser, NP_001154802.1:p.Pro627Ser, XP_005269041.1:p.Pro627Ser, XP_011536802.1:p.Pro547Ser, XP_011536803.1:p.Pro547Ser, XP_016874980.1:p.Pro611Ser, XP_005269042.1:p.Pro547Ser, XP_011536799.1:p.Pro638Ser, XP_011536801.1:p.Pro571Ser, XP_047284980.1:p.Pro544Ser, XP_047284977.1:p.Pro584Ser, XP_047284978.1:p.Pro584Ser, XP_047284979.1:p.Pro560Ser, XP_047284981.1:p.Pro501Ser, XP_047284982.1:p.Pro315Ser

                8.

                rs1477193689 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  12:108792624 (GRCh38)
                  12:109186400 (GRCh37)
                  Canonical SPDI:
                  NC_000012.12:108792623:G:A
                  Gene:
                  SSH1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0./0 (ALFA)
                  A=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000012.12:g.108792624G>A, NC_000012.11:g.109186400G>A, NG_029846.1:g.69960C>T, NM_018984.3:c.1555C>T, NM_018984.4:c.1555C>T, NM_001161331.1:c.1588C>T, NM_001161330.1:c.1555C>T, NM_001161330.2:c.1555C>T, XM_005268984.5:c.1555C>T, XM_005268984.4:c.1555C>T, XM_005268984.3:c.1555C>T, XM_005268984.2:c.1555C>T, XM_005268984.1:c.1555C>T, XM_011538500.4:c.1315C>T, XM_011538500.3:c.1315C>T, XM_011538500.2:c.1315C>T, XM_011538500.1:c.1315C>T, XM_011538501.4:c.1315C>T, XM_011538501.3:c.1315C>T, XM_011538501.2:c.1315C>T, XM_011538501.1:c.1315C>T, XM_017019491.3:c.1507C>T, XM_017019491.2:c.1507C>T, XM_017019491.1:c.1507C>T, XM_005268985.3:c.1315C>T, XM_005268985.2:c.1315C>T, XM_005268985.1:c.1315C>T, XM_011538497.2:c.1588C>T, XM_011538497.1:c.1588C>T, XM_011538499.2:c.1387C>T, XM_011538499.1:c.1387C>T, XM_047429024.1:c.1306C>T, XM_047429021.1:c.1426C>T, XM_047429022.1:c.1426C>T, XM_047429023.1:c.1354C>T, XM_047429025.1:c.1177C>T, XM_047429026.1:c.619C>T

                  9.

                  rs1476931666 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    12:108805096 (GRCh38)
                    12:109198872 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:108805095:T:C
                    Gene:
                    SSH1 (Varview), LOC101929204 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,intron_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000011/3 (TOPMED)
                    HGVS:
                    NC_000012.12:g.108805096T>C, NC_000012.11:g.109198872T>C, NG_029846.1:g.57488A>G, NM_018984.3:c.914A>G, NM_018984.4:c.914A>G, NM_001161331.1:c.947A>G, NM_001161330.1:c.914A>G, NM_001161330.2:c.914A>G, XM_005268984.5:c.914A>G, XM_005268984.4:c.914A>G, XM_005268984.3:c.914A>G, XM_005268984.2:c.914A>G, XM_005268984.1:c.914A>G, XM_011538500.4:c.674A>G, XM_011538500.3:c.674A>G, XM_011538500.2:c.674A>G, XM_011538500.1:c.674A>G, XM_011538501.4:c.674A>G, XM_011538501.3:c.674A>G, XM_011538501.2:c.674A>G, XM_011538501.1:c.674A>G, XM_017019491.3:c.866A>G, XM_017019491.2:c.866A>G, XM_017019491.1:c.866A>G, XM_005268985.3:c.674A>G, XM_005268985.2:c.674A>G, XM_005268985.1:c.674A>G, XM_011538497.2:c.947A>G, XM_011538497.1:c.947A>G, XM_011538499.2:c.947A>G, XM_011538499.1:c.947A>G, XM_047429024.1:c.866A>G, XM_047429021.1:c.785A>G, XM_047429022.1:c.785A>G, XM_047429023.1:c.914A>G, XM_047429025.1:c.536A>G, XM_047429026.1:c.25A>G, NP_061857.3:p.Gln305Arg, NP_001154803.1:p.Gln316Arg, NP_001154802.1:p.Gln305Arg, XP_005269041.1:p.Gln305Arg, XP_011536802.1:p.Gln225Arg, XP_011536803.1:p.Gln225Arg, XP_016874980.1:p.Gln289Arg, XP_005269042.1:p.Gln225Arg, XP_011536799.1:p.Gln316Arg, XP_011536801.1:p.Gln316Arg, XP_047284980.1:p.Gln289Arg, XP_047284977.1:p.Gln262Arg, XP_047284978.1:p.Gln262Arg, XP_047284979.1:p.Gln305Arg, XP_047284981.1:p.Gln179Arg, XP_047284982.1:p.Arg9Gly

                    10.

                    rs1476048571 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      12:108792118 (GRCh38)
                      12:109185894 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:108792117:C:G
                      Gene:
                      SSH1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,intron_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0./0 (ALFA)
                      G=0.000009/1 (GnomAD_exomes)
                      G=0.000011/3 (TOPMED)
                      G=0.000021/3 (GnomAD)
                      HGVS:

                      11.

                      rs1476016427 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>T [Show Flanks]
                        Chromosome:
                        12:108792702 (GRCh38)
                        12:109186478 (GRCh37)
                        Canonical SPDI:
                        NC_000012.12:108792701:G:T
                        Gene:
                        SSH1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (GnomAD_exomes)
                        T=0.000007/1 (GnomAD)
                        T=0.000106/2 (TOMMO)
                        HGVS:
                        NC_000012.12:g.108792702G>T, NC_000012.11:g.109186478G>T, NG_029846.1:g.69882C>A, NM_018984.3:c.1477C>A, NM_018984.4:c.1477C>A, NM_001161331.1:c.1510C>A, NM_001161330.1:c.1477C>A, NM_001161330.2:c.1477C>A, XM_005268984.5:c.1477C>A, XM_005268984.4:c.1477C>A, XM_005268984.3:c.1477C>A, XM_005268984.2:c.1477C>A, XM_005268984.1:c.1477C>A, XM_011538500.4:c.1237C>A, XM_011538500.3:c.1237C>A, XM_011538500.2:c.1237C>A, XM_011538500.1:c.1237C>A, XM_011538501.4:c.1237C>A, XM_011538501.3:c.1237C>A, XM_011538501.2:c.1237C>A, XM_011538501.1:c.1237C>A, XM_017019491.3:c.1429C>A, XM_017019491.2:c.1429C>A, XM_017019491.1:c.1429C>A, XM_005268985.3:c.1237C>A, XM_005268985.2:c.1237C>A, XM_005268985.1:c.1237C>A, XM_011538497.2:c.1510C>A, XM_011538497.1:c.1510C>A, XM_011538499.2:c.1309C>A, XM_011538499.1:c.1309C>A, XM_047429024.1:c.1228C>A, XM_047429021.1:c.1348C>A, XM_047429022.1:c.1348C>A, XM_047429023.1:c.1276C>A, XM_047429025.1:c.1099C>A, XM_047429026.1:c.541C>A, NP_061857.3:p.Pro493Thr, NP_001154803.1:p.Pro504Thr, NP_001154802.1:p.Pro493Thr, XP_005269041.1:p.Pro493Thr, XP_011536802.1:p.Pro413Thr, XP_011536803.1:p.Pro413Thr, XP_016874980.1:p.Pro477Thr, XP_005269042.1:p.Pro413Thr, XP_011536799.1:p.Pro504Thr, XP_011536801.1:p.Pro437Thr, XP_047284980.1:p.Pro410Thr, XP_047284977.1:p.Pro450Thr, XP_047284978.1:p.Pro450Thr, XP_047284979.1:p.Pro426Thr, XP_047284981.1:p.Pro367Thr, XP_047284982.1:p.Pro181Thr

                        12.

                        rs1475410779 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A,C [Show Flanks]
                          Chromosome:
                          12:108792656 (GRCh38)
                          12:109186432 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:108792655:G:A,NC_000012.12:108792655:G:C
                          Gene:
                          SSH1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          C=0.000008/2 (GnomAD_exomes)
                          HGVS:
                          NC_000012.12:g.108792656G>A, NC_000012.12:g.108792656G>C, NC_000012.11:g.109186432G>A, NC_000012.11:g.109186432G>C, NG_029846.1:g.69928C>T, NG_029846.1:g.69928C>G, NM_018984.3:c.1523C>T, NM_018984.3:c.1523C>G, NM_018984.4:c.1523C>T, NM_018984.4:c.1523C>G, NM_001161331.1:c.1556C>T, NM_001161331.1:c.1556C>G, NM_001161330.1:c.1523C>T, NM_001161330.1:c.1523C>G, NM_001161330.2:c.1523C>T, NM_001161330.2:c.1523C>G, XM_005268984.5:c.1523C>T, XM_005268984.5:c.1523C>G, XM_005268984.4:c.1523C>T, XM_005268984.4:c.1523C>G, XM_005268984.3:c.1523C>T, XM_005268984.3:c.1523C>G, XM_005268984.2:c.1523C>T, XM_005268984.2:c.1523C>G, XM_005268984.1:c.1523C>T, XM_005268984.1:c.1523C>G, XM_011538500.4:c.1283C>T, XM_011538500.4:c.1283C>G, XM_011538500.3:c.1283C>T, XM_011538500.3:c.1283C>G, XM_011538500.2:c.1283C>T, XM_011538500.2:c.1283C>G, XM_011538500.1:c.1283C>T, XM_011538500.1:c.1283C>G, XM_011538501.4:c.1283C>T, XM_011538501.4:c.1283C>G, XM_011538501.3:c.1283C>T, XM_011538501.3:c.1283C>G, XM_011538501.2:c.1283C>T, XM_011538501.2:c.1283C>G, XM_011538501.1:c.1283C>T, XM_011538501.1:c.1283C>G, XM_017019491.3:c.1475C>T, XM_017019491.3:c.1475C>G, XM_017019491.2:c.1475C>T, XM_017019491.2:c.1475C>G, XM_017019491.1:c.1475C>T, XM_017019491.1:c.1475C>G, XM_005268985.3:c.1283C>T, XM_005268985.3:c.1283C>G, XM_005268985.2:c.1283C>T, XM_005268985.2:c.1283C>G, XM_005268985.1:c.1283C>T, XM_005268985.1:c.1283C>G, XM_011538497.2:c.1556C>T, XM_011538497.2:c.1556C>G, XM_011538497.1:c.1556C>T, XM_011538497.1:c.1556C>G, XM_011538499.2:c.1355C>T, XM_011538499.2:c.1355C>G, XM_011538499.1:c.1355C>T, XM_011538499.1:c.1355C>G, XM_047429024.1:c.1274C>T, XM_047429024.1:c.1274C>G, XM_047429021.1:c.1394C>T, XM_047429021.1:c.1394C>G, XM_047429022.1:c.1394C>T, XM_047429022.1:c.1394C>G, XM_047429023.1:c.1322C>T, XM_047429023.1:c.1322C>G, XM_047429025.1:c.1145C>T, XM_047429025.1:c.1145C>G, XM_047429026.1:c.587C>T, XM_047429026.1:c.587C>G, NP_061857.3:p.Pro508Leu, NP_061857.3:p.Pro508Arg, NP_001154803.1:p.Pro519Leu, NP_001154803.1:p.Pro519Arg, NP_001154802.1:p.Pro508Leu, NP_001154802.1:p.Pro508Arg, XP_005269041.1:p.Pro508Leu, XP_005269041.1:p.Pro508Arg, XP_011536802.1:p.Pro428Leu, XP_011536802.1:p.Pro428Arg, XP_011536803.1:p.Pro428Leu, XP_011536803.1:p.Pro428Arg, XP_016874980.1:p.Pro492Leu, XP_016874980.1:p.Pro492Arg, XP_005269042.1:p.Pro428Leu, XP_005269042.1:p.Pro428Arg, XP_011536799.1:p.Pro519Leu, XP_011536799.1:p.Pro519Arg, XP_011536801.1:p.Pro452Leu, XP_011536801.1:p.Pro452Arg, XP_047284980.1:p.Pro425Leu, XP_047284980.1:p.Pro425Arg, XP_047284977.1:p.Pro465Leu, XP_047284977.1:p.Pro465Arg, XP_047284978.1:p.Pro465Leu, XP_047284978.1:p.Pro465Arg, XP_047284979.1:p.Pro441Leu, XP_047284979.1:p.Pro441Arg, XP_047284981.1:p.Pro382Leu, XP_047284981.1:p.Pro382Arg, XP_047284982.1:p.Pro196Leu, XP_047284982.1:p.Pro196Arg

                          13.

                          rs1475359325 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            12:108800818 (GRCh38)
                            12:109194594 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:108800817:G:C
                            Gene:
                            SSH1 (Varview), LOC101929204 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000004/1 (GnomAD_exomes)
                            HGVS:
                            NC_000012.12:g.108800818G>C, NC_000012.11:g.109194594G>C, NG_029846.1:g.61766C>G, NM_018984.3:c.1110C>G, NM_018984.4:c.1110C>G, NM_001161331.1:c.1143C>G, NM_001161330.1:c.1110C>G, NM_001161330.2:c.1110C>G, XM_005268984.5:c.1110C>G, XM_005268984.4:c.1110C>G, XM_005268984.3:c.1110C>G, XM_005268984.2:c.1110C>G, XM_005268984.1:c.1110C>G, XM_011538500.4:c.870C>G, XM_011538500.3:c.870C>G, XM_011538500.2:c.870C>G, XM_011538500.1:c.870C>G, XM_011538501.4:c.870C>G, XM_011538501.3:c.870C>G, XM_011538501.2:c.870C>G, XM_011538501.1:c.870C>G, XM_017019491.3:c.1062C>G, XM_017019491.2:c.1062C>G, XM_017019491.1:c.1062C>G, XM_005268985.3:c.870C>G, XM_005268985.2:c.870C>G, XM_005268985.1:c.870C>G, XM_011538497.2:c.1143C>G, XM_011538497.1:c.1143C>G, XM_011538499.2:c.1143C>G, XM_011538499.1:c.1143C>G, XM_047429024.1:c.1062C>G, XM_047429021.1:c.981C>G, XM_047429022.1:c.981C>G, XM_047429023.1:c.1110C>G, XM_047429025.1:c.732C>G, XM_047429026.1:c.174C>G

                            14.

                            rs1475303835 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C,T [Show Flanks]
                              Chromosome:
                              12:108792361 (GRCh38)
                              12:109186137 (GRCh37)
                              Canonical SPDI:
                              NC_000012.12:108792360:G:C,NC_000012.12:108792360:G:T
                              Gene:
                              SSH1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              T=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000012.12:g.108792361G>C, NC_000012.12:g.108792361G>T, NC_000012.11:g.109186137G>C, NC_000012.11:g.109186137G>T, NG_029846.1:g.70223C>G, NG_029846.1:g.70223C>A, NM_018984.3:c.1818C>G, NM_018984.3:c.1818C>A, NM_018984.4:c.1818C>G, NM_018984.4:c.1818C>A, NM_001161331.1:c.1851C>G, NM_001161331.1:c.1851C>A, NM_001161330.1:c.1818C>G, NM_001161330.1:c.1818C>A, NM_001161330.2:c.1818C>G, NM_001161330.2:c.1818C>A, XM_005268984.5:c.1818C>G, XM_005268984.5:c.1818C>A, XM_005268984.4:c.1818C>G, XM_005268984.4:c.1818C>A, XM_005268984.3:c.1818C>G, XM_005268984.3:c.1818C>A, XM_005268984.2:c.1818C>G, XM_005268984.2:c.1818C>A, XM_005268984.1:c.1818C>G, XM_005268984.1:c.1818C>A, XM_011538500.4:c.1578C>G, XM_011538500.4:c.1578C>A, XM_011538500.3:c.1578C>G, XM_011538500.3:c.1578C>A, XM_011538500.2:c.1578C>G, XM_011538500.2:c.1578C>A, XM_011538500.1:c.1578C>G, XM_011538500.1:c.1578C>A, XM_011538501.4:c.1578C>G, XM_011538501.4:c.1578C>A, XM_011538501.3:c.1578C>G, XM_011538501.3:c.1578C>A, XM_011538501.2:c.1578C>G, XM_011538501.2:c.1578C>A, XM_011538501.1:c.1578C>G, XM_011538501.1:c.1578C>A, XM_017019491.3:c.1770C>G, XM_017019491.3:c.1770C>A, XM_017019491.2:c.1770C>G, XM_017019491.2:c.1770C>A, XM_017019491.1:c.1770C>G, XM_017019491.1:c.1770C>A, XM_005268985.3:c.1578C>G, XM_005268985.3:c.1578C>A, XM_005268985.2:c.1578C>G, XM_005268985.2:c.1578C>A, XM_005268985.1:c.1578C>G, XM_005268985.1:c.1578C>A, XM_011538497.2:c.1851C>G, XM_011538497.2:c.1851C>A, XM_011538497.1:c.1851C>G, XM_011538497.1:c.1851C>A, XM_011538499.2:c.1650C>G, XM_011538499.2:c.1650C>A, XM_011538499.1:c.1650C>G, XM_011538499.1:c.1650C>A, XM_047429024.1:c.1569C>G, XM_047429024.1:c.1569C>A, XM_047429021.1:c.1689C>G, XM_047429021.1:c.1689C>A, XM_047429022.1:c.1689C>G, XM_047429022.1:c.1689C>A, XM_047429023.1:c.1617C>G, XM_047429023.1:c.1617C>A, XM_047429025.1:c.1440C>G, XM_047429025.1:c.1440C>A, XM_047429026.1:c.882C>G, XM_047429026.1:c.882C>A

                              15.

                              rs1475249533 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                T>C [Show Flanks]
                                Chromosome:
                                12:108818287 (GRCh38)
                                12:109212063 (GRCh37)
                                Canonical SPDI:
                                NC_000012.12:108818286:T:C
                                Gene:
                                SSH1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,genic_upstream_transcript_variant,initiator_codon_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                C=0./0 (ALFA)
                                C=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000012.12:g.108818287T>C, NC_000012.11:g.109212063T>C, NG_029846.1:g.44297A>G, NM_018984.3:c.241A>G, NM_018984.4:c.241A>G, NM_001161331.1:c.274A>G, NM_001161330.1:c.241A>G, NM_001161330.2:c.241A>G, XM_005268984.5:c.241A>G, XM_005268984.4:c.241A>G, XM_005268984.3:c.241A>G, XM_005268984.2:c.241A>G, XM_005268984.1:c.241A>G, XM_011538500.4:c.1A>G, XM_011538500.3:c.1A>G, XM_011538500.2:c.1A>G, XM_011538500.1:c.1A>G, XM_011538501.4:c.1A>G, XM_011538501.3:c.1A>G, XM_011538501.2:c.1A>G, XM_011538501.1:c.1A>G, XM_017019491.3:c.193A>G, XM_017019491.2:c.193A>G, XM_017019491.1:c.193A>G, XM_005268985.3:c.1A>G, XM_005268985.2:c.1A>G, XM_005268985.1:c.1A>G, XM_011538497.2:c.274A>G, XM_011538497.1:c.274A>G, XM_011538499.2:c.274A>G, XM_011538499.1:c.274A>G, XM_047429024.1:c.193A>G, XM_047429021.1:c.112A>G, XM_047429022.1:c.112A>G, XM_047429023.1:c.241A>G, NP_061857.3:p.Met81Val, NP_001154803.1:p.Met92Val, NP_001154802.1:p.Met81Val, XP_005269041.1:p.Met81Val, XP_011536802.1:p.Met1Val, XP_011536803.1:p.Met1Val, XP_016874980.1:p.Met65Val, XP_005269042.1:p.Met1Val, XP_011536799.1:p.Met92Val, XP_011536801.1:p.Met92Val, XP_047284980.1:p.Met65Val, XP_047284977.1:p.Met38Val, XP_047284978.1:p.Met38Val, XP_047284979.1:p.Met81Val

                                16.

                                rs1474872122 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  12:108802351 (GRCh38)
                                  12:109196127 (GRCh37)
                                  Canonical SPDI:
                                  NC_000012.12:108802350:T:G
                                  Gene:
                                  SSH1 (Varview), LOC101929204 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,intron_variant,synonymous_variant,non_coding_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  G=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000012.12:g.108802351T>G, NC_000012.11:g.109196127T>G, NG_029846.1:g.60233A>C, NM_018984.3:c.972A>C, NM_018984.4:c.972A>C, NM_001161331.1:c.1005A>C, NM_001161330.1:c.972A>C, NM_001161330.2:c.972A>C, XM_005268984.5:c.972A>C, XM_005268984.4:c.972A>C, XM_005268984.3:c.972A>C, XM_005268984.2:c.972A>C, XM_005268984.1:c.972A>C, XM_011538500.4:c.732A>C, XM_011538500.3:c.732A>C, XM_011538500.2:c.732A>C, XM_011538500.1:c.732A>C, XM_011538501.4:c.732A>C, XM_011538501.3:c.732A>C, XM_011538501.2:c.732A>C, XM_011538501.1:c.732A>C, XM_017019491.3:c.924A>C, XM_017019491.2:c.924A>C, XM_017019491.1:c.924A>C, XM_005268985.3:c.732A>C, XM_005268985.2:c.732A>C, XM_005268985.1:c.732A>C, XR_945329.3:n.222T>G, XM_011538497.2:c.1005A>C, XM_011538497.1:c.1005A>C, XM_011538499.2:c.1005A>C, XM_011538499.1:c.1005A>C, XM_047429024.1:c.924A>C, XM_047429021.1:c.843A>C, XM_047429022.1:c.843A>C, XM_047429023.1:c.972A>C, XM_047429025.1:c.594A>C, XR_007063451.1:n.222T>G, XR_007063452.1:n.222T>G

                                  17.

                                  rs1474433595 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>G [Show Flanks]
                                    Chromosome:
                                    12:108792591 (GRCh38)
                                    12:109186367 (GRCh37)
                                    Canonical SPDI:
                                    NC_000012.12:108792590:C:G
                                    Gene:
                                    SSH1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    G=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000012.12:g.108792591C>G, NC_000012.11:g.109186367C>G, NG_029846.1:g.69993G>C, NM_018984.3:c.1588G>C, NM_018984.4:c.1588G>C, NM_001161331.1:c.1621G>C, NM_001161330.1:c.1588G>C, NM_001161330.2:c.1588G>C, XM_005268984.5:c.1588G>C, XM_005268984.4:c.1588G>C, XM_005268984.3:c.1588G>C, XM_005268984.2:c.1588G>C, XM_005268984.1:c.1588G>C, XM_011538500.4:c.1348G>C, XM_011538500.3:c.1348G>C, XM_011538500.2:c.1348G>C, XM_011538500.1:c.1348G>C, XM_011538501.4:c.1348G>C, XM_011538501.3:c.1348G>C, XM_011538501.2:c.1348G>C, XM_011538501.1:c.1348G>C, XM_017019491.3:c.1540G>C, XM_017019491.2:c.1540G>C, XM_017019491.1:c.1540G>C, XM_005268985.3:c.1348G>C, XM_005268985.2:c.1348G>C, XM_005268985.1:c.1348G>C, XM_011538497.2:c.1621G>C, XM_011538497.1:c.1621G>C, XM_011538499.2:c.1420G>C, XM_011538499.1:c.1420G>C, XM_047429024.1:c.1339G>C, XM_047429021.1:c.1459G>C, XM_047429022.1:c.1459G>C, XM_047429023.1:c.1387G>C, XM_047429025.1:c.1210G>C, XM_047429026.1:c.652G>C, NP_061857.3:p.Val530Leu, NP_001154803.1:p.Val541Leu, NP_001154802.1:p.Val530Leu, XP_005269041.1:p.Val530Leu, XP_011536802.1:p.Val450Leu, XP_011536803.1:p.Val450Leu, XP_016874980.1:p.Val514Leu, XP_005269042.1:p.Val450Leu, XP_011536799.1:p.Val541Leu, XP_011536801.1:p.Val474Leu, XP_047284980.1:p.Val447Leu, XP_047284977.1:p.Val487Leu, XP_047284978.1:p.Val487Leu, XP_047284979.1:p.Val463Leu, XP_047284981.1:p.Val404Leu, XP_047284982.1:p.Val218Leu

                                    18.

                                    rs1471927980 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>A,C,T [Show Flanks]
                                      Chromosome:
                                      12:108857482 (GRCh38)
                                      12:109251258 (GRCh37)
                                      Canonical SPDI:
                                      NC_000012.12:108857481:G:A,NC_000012.12:108857481:G:C,NC_000012.12:108857481:G:T
                                      Gene:
                                      SSH1 (Varview)
                                      Functional Consequence:
                                      upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      C=0.00001/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000012.12:g.108857482G>A, NC_000012.12:g.108857482G>C, NC_000012.12:g.108857482G>T, NC_000012.11:g.109251258G>A, NC_000012.11:g.109251258G>C, NC_000012.11:g.109251258G>T, NG_029846.1:g.5102C>T, NG_029846.1:g.5102C>G, NG_029846.1:g.5102C>A, NM_018984.3:c.15C>T, NM_018984.3:c.15C>G, NM_018984.3:c.15C>A, NM_018984.4:c.15C>T, NM_018984.4:c.15C>G, NM_018984.4:c.15C>A, NM_001161330.1:c.15C>T, NM_001161330.1:c.15C>G, NM_001161330.1:c.15C>A, NM_001161330.2:c.15C>T, NM_001161330.2:c.15C>G, NM_001161330.2:c.15C>A, XM_005268985.3:c.-122C>T, XM_005268985.3:c.-122C>G, XM_005268985.3:c.-122C>A, XM_005268985.2:c.-122C>T, XM_005268985.2:c.-122C>G, XM_005268985.2:c.-122C>A, XM_005268985.1:c.-122C>T, XM_005268985.1:c.-122C>G, XM_005268985.1:c.-122C>A, XM_047429021.1:c.-456C>T, XM_047429021.1:c.-456C>G, XM_047429021.1:c.-456C>A, XM_047429022.1:c.-74C>T, XM_047429022.1:c.-74C>G, XM_047429022.1:c.-74C>A, XM_047429023.1:c.15C>T, XM_047429023.1:c.15C>G, XM_047429023.1:c.15C>A

                                      19.

                                      rs1471453282 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>A,T [Show Flanks]
                                        Chromosome:
                                        12:108807745 (GRCh38)
                                        12:109201521 (GRCh37)
                                        Canonical SPDI:
                                        NC_000012.12:108807744:C:A,NC_000012.12:108807744:C:T
                                        Gene:
                                        SSH1 (Varview), LOC101929204 (Varview)
                                        Functional Consequence:
                                        upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        T=0.000028/1 (ALFA)
                                        T=0.000004/1 (TOPMED)
                                        T=0.000007/1 (GnomAD)
                                        T=0.000035/1 (TOMMO)
                                        HGVS:
                                        NC_000012.12:g.108807745C>A, NC_000012.12:g.108807745C>T, NC_000012.11:g.109201521C>A, NC_000012.11:g.109201521C>T, NG_029846.1:g.54839G>T, NG_029846.1:g.54839G>A, NM_018984.3:c.619G>T, NM_018984.3:c.619G>A, NM_018984.4:c.619G>T, NM_018984.4:c.619G>A, NM_001161331.1:c.652G>T, NM_001161331.1:c.652G>A, NM_001161330.1:c.619G>T, NM_001161330.1:c.619G>A, NM_001161330.2:c.619G>T, NM_001161330.2:c.619G>A, XM_005268984.5:c.619G>T, XM_005268984.5:c.619G>A, XM_005268984.4:c.619G>T, XM_005268984.4:c.619G>A, XM_005268984.3:c.619G>T, XM_005268984.3:c.619G>A, XM_005268984.2:c.619G>T, XM_005268984.2:c.619G>A, XM_005268984.1:c.619G>T, XM_005268984.1:c.619G>A, XM_011538500.4:c.379G>T, XM_011538500.4:c.379G>A, XM_011538500.3:c.379G>T, XM_011538500.3:c.379G>A, XM_011538500.2:c.379G>T, XM_011538500.2:c.379G>A, XM_011538500.1:c.379G>T, XM_011538500.1:c.379G>A, XM_011538501.4:c.379G>T, XM_011538501.4:c.379G>A, XM_011538501.3:c.379G>T, XM_011538501.3:c.379G>A, XM_011538501.2:c.379G>T, XM_011538501.2:c.379G>A, XM_011538501.1:c.379G>T, XM_011538501.1:c.379G>A, XM_017019491.3:c.571G>T, XM_017019491.3:c.571G>A, XM_017019491.2:c.571G>T, XM_017019491.2:c.571G>A, XM_017019491.1:c.571G>T, XM_017019491.1:c.571G>A, XM_005268985.3:c.379G>T, XM_005268985.3:c.379G>A, XM_005268985.2:c.379G>T, XM_005268985.2:c.379G>A, XM_005268985.1:c.379G>T, XM_005268985.1:c.379G>A, XM_011538497.2:c.652G>T, XM_011538497.2:c.652G>A, XM_011538497.1:c.652G>T, XM_011538497.1:c.652G>A, XM_011538499.2:c.652G>T, XM_011538499.2:c.652G>A, XM_011538499.1:c.652G>T, XM_011538499.1:c.652G>A, XM_047429024.1:c.571G>T, XM_047429024.1:c.571G>A, XM_047429021.1:c.490G>T, XM_047429021.1:c.490G>A, XM_047429022.1:c.490G>T, XM_047429022.1:c.490G>A, XM_047429023.1:c.619G>T, XM_047429023.1:c.619G>A, XM_047429025.1:c.241G>T, XM_047429025.1:c.241G>A, NP_061857.3:p.Ala207Ser, NP_061857.3:p.Ala207Thr, NP_001154803.1:p.Ala218Ser, NP_001154803.1:p.Ala218Thr, NP_001154802.1:p.Ala207Ser, NP_001154802.1:p.Ala207Thr, XP_005269041.1:p.Ala207Ser, XP_005269041.1:p.Ala207Thr, XP_011536802.1:p.Ala127Ser, XP_011536802.1:p.Ala127Thr, XP_011536803.1:p.Ala127Ser, XP_011536803.1:p.Ala127Thr, XP_016874980.1:p.Ala191Ser, XP_016874980.1:p.Ala191Thr, XP_005269042.1:p.Ala127Ser, XP_005269042.1:p.Ala127Thr, XP_011536799.1:p.Ala218Ser, XP_011536799.1:p.Ala218Thr, XP_011536801.1:p.Ala218Ser, XP_011536801.1:p.Ala218Thr, XP_047284980.1:p.Ala191Ser, XP_047284980.1:p.Ala191Thr, XP_047284977.1:p.Ala164Ser, XP_047284977.1:p.Ala164Thr, XP_047284978.1:p.Ala164Ser, XP_047284978.1:p.Ala164Thr, XP_047284979.1:p.Ala207Ser, XP_047284979.1:p.Ala207Thr, XP_047284981.1:p.Ala81Ser, XP_047284981.1:p.Ala81Thr

                                        20.

                                        rs1471440722 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>C [Show Flanks]
                                          Chromosome:
                                          12:108811321 (GRCh38)
                                          12:109205097 (GRCh37)
                                          Canonical SPDI:
                                          NC_000012.12:108811320:A:C
                                          Gene:
                                          SSH1 (Varview), LOC101929204 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          C=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000012.12:g.108811321A>C, NC_000012.11:g.109205097A>C, NG_029846.1:g.51263T>G, NM_018984.3:c.409T>G, NM_018984.4:c.409T>G, NM_001161331.1:c.442T>G, NM_001161330.1:c.409T>G, NM_001161330.2:c.409T>G, XM_005268984.5:c.409T>G, XM_005268984.4:c.409T>G, XM_005268984.3:c.409T>G, XM_005268984.2:c.409T>G, XM_005268984.1:c.409T>G, XM_011538500.4:c.169T>G, XM_011538500.3:c.169T>G, XM_011538500.2:c.169T>G, XM_011538500.1:c.169T>G, XM_011538501.4:c.169T>G, XM_011538501.3:c.169T>G, XM_011538501.2:c.169T>G, XM_011538501.1:c.169T>G, XM_017019491.3:c.361T>G, XM_017019491.2:c.361T>G, XM_017019491.1:c.361T>G, XM_005268985.3:c.169T>G, XM_005268985.2:c.169T>G, XM_005268985.1:c.169T>G, XR_945329.3:n.429A>C, XM_011538497.2:c.442T>G, XM_011538497.1:c.442T>G, XM_011538499.2:c.442T>G, XM_011538499.1:c.442T>G, XM_047429024.1:c.361T>G, XM_047429021.1:c.280T>G, XM_047429022.1:c.280T>G, XM_047429023.1:c.409T>G, XM_047429025.1:c.31T>G, XR_007063451.1:n.429A>C, XR_007063452.1:n.429A>C, NP_061857.3:p.Cys137Gly, NP_001154803.1:p.Cys148Gly, NP_001154802.1:p.Cys137Gly, XP_005269041.1:p.Cys137Gly, XP_011536802.1:p.Cys57Gly, XP_011536803.1:p.Cys57Gly, XP_016874980.1:p.Cys121Gly, XP_005269042.1:p.Cys57Gly, XP_011536799.1:p.Cys148Gly, XP_011536801.1:p.Cys148Gly, XP_047284980.1:p.Cys121Gly, XP_047284977.1:p.Cys94Gly, XP_047284978.1:p.Cys94Gly, XP_047284979.1:p.Cys137Gly, XP_047284981.1:p.Cys11Gly

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