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Items: 1 to 20 of 996

1.

rs1490379221 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>C [Show Flanks]
    Chromosome:
    12:108788531 (GRCh38)
    12:109182307 (GRCh37)
    Canonical SPDI:
    NC_000012.12:108788530:G:C
    Gene:
    SSH1 (Varview)
    Functional Consequence:
    genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000012.12:g.108788531G>C, NC_000012.11:g.109182307G>C, NG_029846.1:g.74053C>G, NM_018984.3:c.2607C>G, NM_018984.4:c.2607C>G, XM_005268984.5:c.2607C>G, XM_005268984.4:c.2607C>G, XM_005268984.3:c.2607C>G, XM_005268984.2:c.2607C>G, XM_005268984.1:c.2607C>G, XM_011538500.4:c.2367C>G, XM_011538500.3:c.2367C>G, XM_011538500.2:c.2367C>G, XM_011538500.1:c.2367C>G, XM_011538501.4:c.2367C>G, XM_011538501.3:c.2367C>G, XM_011538501.2:c.2367C>G, XM_011538501.1:c.2367C>G, XM_017019491.3:c.2559C>G, XM_017019491.2:c.2559C>G, XM_017019491.1:c.2559C>G, XM_005268985.3:c.2367C>G, XM_005268985.2:c.2367C>G, XM_005268985.1:c.2367C>G, XM_011538497.2:c.2640C>G, XM_011538497.1:c.2640C>G, XM_011538499.2:c.2439C>G, XM_011538499.1:c.2439C>G, XM_047429024.1:c.2358C>G, XM_047429021.1:c.2478C>G, XM_047429022.1:c.2478C>G, XM_047429023.1:c.2406C>G, XM_047429025.1:c.2229C>G, XM_047429026.1:c.1671C>G

    2.

    rs1489566668 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      12:108788875 (GRCh38)
      12:109182651 (GRCh37)
      Canonical SPDI:
      NC_000012.12:108788874:G:A
      Gene:
      SSH1 (Varview)
      Functional Consequence:
      missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
      HGVS:
      NC_000012.12:g.108788875G>A, NC_000012.11:g.109182651G>A, NG_029846.1:g.73709C>T, NM_018984.3:c.2263C>T, NM_018984.4:c.2263C>T, XM_005268984.5:c.2263C>T, XM_005268984.4:c.2263C>T, XM_005268984.3:c.2263C>T, XM_005268984.2:c.2263C>T, XM_005268984.1:c.2263C>T, XM_011538500.4:c.2023C>T, XM_011538500.3:c.2023C>T, XM_011538500.2:c.2023C>T, XM_011538500.1:c.2023C>T, XM_011538501.4:c.2023C>T, XM_011538501.3:c.2023C>T, XM_011538501.2:c.2023C>T, XM_011538501.1:c.2023C>T, XM_017019491.3:c.2215C>T, XM_017019491.2:c.2215C>T, XM_017019491.1:c.2215C>T, XM_005268985.3:c.2023C>T, XM_005268985.2:c.2023C>T, XM_005268985.1:c.2023C>T, XM_011538497.2:c.2296C>T, XM_011538497.1:c.2296C>T, XM_011538499.2:c.2095C>T, XM_011538499.1:c.2095C>T, XM_047429024.1:c.2014C>T, XM_047429021.1:c.2134C>T, XM_047429022.1:c.2134C>T, XM_047429023.1:c.2062C>T, XM_047429025.1:c.1885C>T, XM_047429026.1:c.1327C>T, NP_061857.3:p.Leu755Phe, XP_005269041.1:p.Leu755Phe, XP_011536802.1:p.Leu675Phe, XP_011536803.1:p.Leu675Phe, XP_016874980.1:p.Leu739Phe, XP_005269042.1:p.Leu675Phe, XP_011536799.1:p.Leu766Phe, XP_011536801.1:p.Leu699Phe, XP_047284980.1:p.Leu672Phe, XP_047284977.1:p.Leu712Phe, XP_047284978.1:p.Leu712Phe, XP_047284979.1:p.Leu688Phe, XP_047284981.1:p.Leu629Phe, XP_047284982.1:p.Leu443Phe

      3.

      rs1489102249 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>C [Show Flanks]
        Chromosome:
        12:108789127 (GRCh38)
        12:109182903 (GRCh37)
        Canonical SPDI:
        NC_000012.12:108789126:G:C
        Gene:
        SSH1 (Varview)
        Functional Consequence:
        missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        C=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000012.12:g.108789127G>C, NC_000012.11:g.109182903G>C, NG_029846.1:g.73457C>G, NM_018984.3:c.2011C>G, NM_018984.4:c.2011C>G, XM_005268984.5:c.2011C>G, XM_005268984.4:c.2011C>G, XM_005268984.3:c.2011C>G, XM_005268984.2:c.2011C>G, XM_005268984.1:c.2011C>G, XM_011538500.4:c.1771C>G, XM_011538500.3:c.1771C>G, XM_011538500.2:c.1771C>G, XM_011538500.1:c.1771C>G, XM_011538501.4:c.1771C>G, XM_011538501.3:c.1771C>G, XM_011538501.2:c.1771C>G, XM_011538501.1:c.1771C>G, XM_017019491.3:c.1963C>G, XM_017019491.2:c.1963C>G, XM_017019491.1:c.1963C>G, XM_005268985.3:c.1771C>G, XM_005268985.2:c.1771C>G, XM_005268985.1:c.1771C>G, XM_011538497.2:c.2044C>G, XM_011538497.1:c.2044C>G, XM_011538499.2:c.1843C>G, XM_011538499.1:c.1843C>G, XM_047429024.1:c.1762C>G, XM_047429021.1:c.1882C>G, XM_047429022.1:c.1882C>G, XM_047429023.1:c.1810C>G, XM_047429025.1:c.1633C>G, XM_047429026.1:c.1075C>G, NP_061857.3:p.Pro671Ala, XP_005269041.1:p.Pro671Ala, XP_011536802.1:p.Pro591Ala, XP_011536803.1:p.Pro591Ala, XP_016874980.1:p.Pro655Ala, XP_005269042.1:p.Pro591Ala, XP_011536799.1:p.Pro682Ala, XP_011536801.1:p.Pro615Ala, XP_047284980.1:p.Pro588Ala, XP_047284977.1:p.Pro628Ala, XP_047284978.1:p.Pro628Ala, XP_047284979.1:p.Pro604Ala, XP_047284981.1:p.Pro545Ala, XP_047284982.1:p.Pro359Ala

        4.

        rs1487988615 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          T>C [Show Flanks]
          Chromosome:
          12:108788681 (GRCh38)
          12:109182457 (GRCh37)
          Canonical SPDI:
          NC_000012.12:108788680:T:C
          Gene:
          SSH1 (Varview)
          Functional Consequence:
          genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
          Validated:
          by frequency
          MAF:
          C=0.000004/1 (GnomAD_exomes)
          HGVS:
          NC_000012.12:g.108788681T>C, NC_000012.11:g.109182457T>C, NG_029846.1:g.73903A>G, NM_018984.3:c.2457A>G, NM_018984.4:c.2457A>G, XM_005268984.5:c.2457A>G, XM_005268984.4:c.2457A>G, XM_005268984.3:c.2457A>G, XM_005268984.2:c.2457A>G, XM_005268984.1:c.2457A>G, XM_011538500.4:c.2217A>G, XM_011538500.3:c.2217A>G, XM_011538500.2:c.2217A>G, XM_011538500.1:c.2217A>G, XM_011538501.4:c.2217A>G, XM_011538501.3:c.2217A>G, XM_011538501.2:c.2217A>G, XM_011538501.1:c.2217A>G, XM_017019491.3:c.2409A>G, XM_017019491.2:c.2409A>G, XM_017019491.1:c.2409A>G, XM_005268985.3:c.2217A>G, XM_005268985.2:c.2217A>G, XM_005268985.1:c.2217A>G, XM_011538497.2:c.2490A>G, XM_011538497.1:c.2490A>G, XM_011538499.2:c.2289A>G, XM_011538499.1:c.2289A>G, XM_047429024.1:c.2208A>G, XM_047429021.1:c.2328A>G, XM_047429022.1:c.2328A>G, XM_047429023.1:c.2256A>G, XM_047429025.1:c.2079A>G, XM_047429026.1:c.1521A>G

          5.

          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

            6.

            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

              7.

              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

                8.

                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

                  9.

                  rs1485699735 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>G,T [Show Flanks]
                    Chromosome:
                    12:108789051 (GRCh38)
                    12:109182827 (GRCh37)
                    Canonical SPDI:
                    NC_000012.12:108789050:C:G,NC_000012.12:108789050:C:T
                    Gene:
                    SSH1 (Varview)
                    Functional Consequence:
                    missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0.000023/1 (ALFA)
                    G=0.000004/1 (TOPMED)
                    G=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000012.12:g.108789051C>G, NC_000012.12:g.108789051C>T, NC_000012.11:g.109182827C>G, NC_000012.11:g.109182827C>T, NG_029846.1:g.73533G>C, NG_029846.1:g.73533G>A, NM_018984.3:c.2087G>C, NM_018984.3:c.2087G>A, NM_018984.4:c.2087G>C, NM_018984.4:c.2087G>A, XM_005268984.5:c.2087G>C, XM_005268984.5:c.2087G>A, XM_005268984.4:c.2087G>C, XM_005268984.4:c.2087G>A, XM_005268984.3:c.2087G>C, XM_005268984.3:c.2087G>A, XM_005268984.2:c.2087G>C, XM_005268984.2:c.2087G>A, XM_005268984.1:c.2087G>C, XM_005268984.1:c.2087G>A, XM_011538500.4:c.1847G>C, XM_011538500.4:c.1847G>A, XM_011538500.3:c.1847G>C, XM_011538500.3:c.1847G>A, XM_011538500.2:c.1847G>C, XM_011538500.2:c.1847G>A, XM_011538500.1:c.1847G>C, XM_011538500.1:c.1847G>A, XM_011538501.4:c.1847G>C, XM_011538501.4:c.1847G>A, XM_011538501.3:c.1847G>C, XM_011538501.3:c.1847G>A, XM_011538501.2:c.1847G>C, XM_011538501.2:c.1847G>A, XM_011538501.1:c.1847G>C, XM_011538501.1:c.1847G>A, XM_017019491.3:c.2039G>C, XM_017019491.3:c.2039G>A, XM_017019491.2:c.2039G>C, XM_017019491.2:c.2039G>A, XM_017019491.1:c.2039G>C, XM_017019491.1:c.2039G>A, XM_005268985.3:c.1847G>C, XM_005268985.3:c.1847G>A, XM_005268985.2:c.1847G>C, XM_005268985.2:c.1847G>A, XM_005268985.1:c.1847G>C, XM_005268985.1:c.1847G>A, XM_011538497.2:c.2120G>C, XM_011538497.2:c.2120G>A, XM_011538497.1:c.2120G>C, XM_011538497.1:c.2120G>A, XM_011538499.2:c.1919G>C, XM_011538499.2:c.1919G>A, XM_011538499.1:c.1919G>C, XM_011538499.1:c.1919G>A, XM_047429024.1:c.1838G>C, XM_047429024.1:c.1838G>A, XM_047429021.1:c.1958G>C, XM_047429021.1:c.1958G>A, XM_047429022.1:c.1958G>C, XM_047429022.1:c.1958G>A, XM_047429023.1:c.1886G>C, XM_047429023.1:c.1886G>A, XM_047429025.1:c.1709G>C, XM_047429025.1:c.1709G>A, XM_047429026.1:c.1151G>C, XM_047429026.1:c.1151G>A, NP_061857.3:p.Ser696Thr, NP_061857.3:p.Ser696Asn, XP_005269041.1:p.Ser696Thr, XP_005269041.1:p.Ser696Asn, XP_011536802.1:p.Ser616Thr, XP_011536802.1:p.Ser616Asn, XP_011536803.1:p.Ser616Thr, XP_011536803.1:p.Ser616Asn, XP_016874980.1:p.Ser680Thr, XP_016874980.1:p.Ser680Asn, XP_005269042.1:p.Ser616Thr, XP_005269042.1:p.Ser616Asn, XP_011536799.1:p.Ser707Thr, XP_011536799.1:p.Ser707Asn, XP_011536801.1:p.Ser640Thr, XP_011536801.1:p.Ser640Asn, XP_047284980.1:p.Ser613Thr, XP_047284980.1:p.Ser613Asn, XP_047284977.1:p.Ser653Thr, XP_047284977.1:p.Ser653Asn, XP_047284978.1:p.Ser653Thr, XP_047284978.1:p.Ser653Asn, XP_047284979.1:p.Ser629Thr, XP_047284979.1:p.Ser629Asn, XP_047284981.1:p.Ser570Thr, XP_047284981.1:p.Ser570Asn, XP_047284982.1:p.Ser384Thr, XP_047284982.1:p.Ser384Asn

                    10.

                    rs1483728567 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>G [Show Flanks]
                      Chromosome:
                      12:108788309 (GRCh38)
                      12:109182085 (GRCh37)
                      Canonical SPDI:
                      NC_000012.12:108788308:A:G
                      Gene:
                      SSH1 (Varview)
                      Functional Consequence:
                      genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      G=0.000071/1 (ALFA)
                      G=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000012.12:g.108788309A>G, NC_000012.11:g.109182085A>G, NG_029846.1:g.74275T>C, NM_018984.3:c.2829T>C, NM_018984.4:c.2829T>C, XM_005268984.5:c.2829T>C, XM_005268984.4:c.2829T>C, XM_005268984.3:c.2829T>C, XM_005268984.2:c.2829T>C, XM_005268984.1:c.2829T>C, XM_011538500.4:c.2589T>C, XM_011538500.3:c.2589T>C, XM_011538500.2:c.2589T>C, XM_011538500.1:c.2589T>C, XM_011538501.4:c.2589T>C, XM_011538501.3:c.2589T>C, XM_011538501.2:c.2589T>C, XM_011538501.1:c.2589T>C, XM_017019491.3:c.2781T>C, XM_017019491.2:c.2781T>C, XM_017019491.1:c.2781T>C, XM_005268985.3:c.2589T>C, XM_005268985.2:c.2589T>C, XM_005268985.1:c.2589T>C, XM_011538497.2:c.2862T>C, XM_011538497.1:c.2862T>C, XM_011538499.2:c.2661T>C, XM_011538499.1:c.2661T>C, XM_047429024.1:c.2580T>C, XM_047429021.1:c.2700T>C, XM_047429022.1:c.2700T>C, XM_047429023.1:c.2628T>C, XM_047429025.1:c.2451T>C, XM_047429026.1:c.1893T>C

                      11.

                      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

                        12.

                        rs1478632697 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          12:108788337 (GRCh38)
                          12:109182113 (GRCh37)
                          Canonical SPDI:
                          NC_000012.12:108788336:C:T
                          Gene:
                          SSH1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.000028/1 (ALFA)
                          T=0.000004/1 (TOPMED)
                          T=0.000007/1 (GnomAD)
                          HGVS:
                          NC_000012.12:g.108788337C>T, NC_000012.11:g.109182113C>T, NG_029846.1:g.74247G>A, NM_018984.3:c.2801G>A, NM_018984.4:c.2801G>A, XM_005268984.5:c.2801G>A, XM_005268984.4:c.2801G>A, XM_005268984.3:c.2801G>A, XM_005268984.2:c.2801G>A, XM_005268984.1:c.2801G>A, XM_011538500.4:c.2561G>A, XM_011538500.3:c.2561G>A, XM_011538500.2:c.2561G>A, XM_011538500.1:c.2561G>A, XM_011538501.4:c.2561G>A, XM_011538501.3:c.2561G>A, XM_011538501.2:c.2561G>A, XM_011538501.1:c.2561G>A, XM_017019491.3:c.2753G>A, XM_017019491.2:c.2753G>A, XM_017019491.1:c.2753G>A, XM_005268985.3:c.2561G>A, XM_005268985.2:c.2561G>A, XM_005268985.1:c.2561G>A, XM_011538497.2:c.2834G>A, XM_011538497.1:c.2834G>A, XM_011538499.2:c.2633G>A, XM_011538499.1:c.2633G>A, XM_047429024.1:c.2552G>A, XM_047429021.1:c.2672G>A, XM_047429022.1:c.2672G>A, XM_047429023.1:c.2600G>A, XM_047429025.1:c.2423G>A, XM_047429026.1:c.1865G>A, NP_061857.3:p.Arg934Gln, XP_005269041.1:p.Arg934Gln, XP_011536802.1:p.Arg854Gln, XP_011536803.1:p.Arg854Gln, XP_016874980.1:p.Arg918Gln, XP_005269042.1:p.Arg854Gln, XP_011536799.1:p.Arg945Gln, XP_011536801.1:p.Arg878Gln, XP_047284980.1:p.Arg851Gln, XP_047284977.1:p.Arg891Gln, XP_047284978.1:p.Arg891Gln, XP_047284979.1:p.Arg867Gln, XP_047284981.1:p.Arg808Gln, XP_047284982.1:p.Arg622Gln

                          13.

                          rs1477654653 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            12:108788609 (GRCh38)
                            12:109182385 (GRCh37)
                            Canonical SPDI:
                            NC_000012.12:108788608:G:A
                            Gene:
                            SSH1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,synonymous_variant,genic_downstream_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)
                            A=0.000007/1 (GnomAD)
                            HGVS:
                            NC_000012.12:g.108788609G>A, NC_000012.11:g.109182385G>A, NG_029846.1:g.73975C>T, NM_018984.3:c.2529C>T, NM_018984.4:c.2529C>T, XM_005268984.5:c.2529C>T, XM_005268984.4:c.2529C>T, XM_005268984.3:c.2529C>T, XM_005268984.2:c.2529C>T, XM_005268984.1:c.2529C>T, XM_011538500.4:c.2289C>T, XM_011538500.3:c.2289C>T, XM_011538500.2:c.2289C>T, XM_011538500.1:c.2289C>T, XM_011538501.4:c.2289C>T, XM_011538501.3:c.2289C>T, XM_011538501.2:c.2289C>T, XM_011538501.1:c.2289C>T, XM_017019491.3:c.2481C>T, XM_017019491.2:c.2481C>T, XM_017019491.1:c.2481C>T, XM_005268985.3:c.2289C>T, XM_005268985.2:c.2289C>T, XM_005268985.1:c.2289C>T, XM_011538497.2:c.2562C>T, XM_011538497.1:c.2562C>T, XM_011538499.2:c.2361C>T, XM_011538499.1:c.2361C>T, XM_047429024.1:c.2280C>T, XM_047429021.1:c.2400C>T, XM_047429022.1:c.2400C>T, XM_047429023.1:c.2328C>T, XM_047429025.1:c.2151C>T, XM_047429026.1:c.1593C>T

                            14.

                            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

                              15.

                              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

                                16.

                                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

                                  17.

                                  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

                                    18.

                                    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

                                      19.

                                      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

                                        20.

                                        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

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