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1.

rs1490797987 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    6:138424674 (GRCh38)
    6:138745811 (GRCh37)
    Canonical SPDI:
    NC_000006.12:138424673:G:A
    Gene:
    NHSL1 (Varview)
    Functional Consequence:
    coding_sequence_variant,stop_gained
    Validated:
    by frequency
    MAF:
    A=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000006.12:g.138424674G>A, NC_000006.11:g.138745811G>A, XM_011535974.4:c.4231C>T, XM_011535974.3:c.4231C>T, XM_011535974.2:c.4231C>T, XM_011535974.1:c.4231C>T, XM_011535966.4:c.4426C>T, XM_011535966.3:c.4426C>T, XM_011535966.2:c.4426C>T, XM_011535966.1:c.4426C>T, XM_011535967.4:c.4426C>T, XM_011535967.3:c.4426C>T, XM_011535967.2:c.4426C>T, XM_011535967.1:c.4426C>T, XM_011535971.3:c.4264C>T, XM_011535971.2:c.4264C>T, XM_011535971.1:c.4264C>T, XM_017011086.3:c.4426C>T, XM_017011086.2:c.4426C>T, XM_017011086.1:c.4426C>T, XM_011535970.3:c.4282C>T, XM_011535970.2:c.4282C>T, XM_011535970.1:c.4282C>T, XM_011535969.3:c.4285C>T, XM_011535969.2:c.4285C>T, XM_011535969.1:c.4285C>T, XM_011535973.3:c.4231C>T, XM_011535973.2:c.4231C>T, XM_011535973.1:c.4231C>T, XM_011535972.3:c.4240C>T, XM_011535972.2:c.4240C>T, XM_011535972.1:c.4240C>T, XM_017011088.2:c.4276C>T, XM_017011088.1:c.4276C>T, XM_011535976.2:c.4513C>T, XM_011535976.1:c.4054C>T, NM_020464.2:c.4240C>T, NM_020464.1:c.4240C>T, NM_001144060.2:c.4228C>T, NM_001144060.1:c.4228C>T, XM_017011089.2:c.4186C>T, XM_017011089.1:c.4186C>T, XM_017011087.1:c.4321C>T, XM_047419114.1:c.4267C>T, XM_047419116.1:c.4135C>T, XM_047419109.1:c.4459C>T, XM_047419110.1:c.4381C>T, XM_047419113.1:c.4327C>T, XM_047419111.1:c.4372C>T, XM_047419112.1:c.4372C>T, XM_047419115.1:c.4240C>T, XM_047419119.1:c.4054C>T, XM_047419117.1:c.4096C>T, XM_047419118.1:c.4054C>T, XP_011534276.1:p.Arg1411Ter, XP_011534268.1:p.Arg1476Ter, XP_011534269.1:p.Arg1476Ter, XP_011534273.1:p.Arg1422Ter, XP_016866575.1:p.Arg1476Ter, XP_011534272.1:p.Arg1428Ter, XP_011534271.1:p.Arg1429Ter, XP_011534275.1:p.Arg1411Ter, XP_011534274.1:p.Arg1414Ter, XP_016866577.1:p.Arg1426Ter, XP_011534278.2:p.Arg1505Ter, NP_065197.1:p.Arg1414Ter, NP_001137532.1:p.Arg1410Ter, XP_016866578.1:p.Arg1396Ter, XP_016866576.1:p.Arg1441Ter, XP_047275070.1:p.Arg1423Ter, XP_047275072.1:p.Arg1379Ter, XP_047275065.1:p.Arg1487Ter, XP_047275066.1:p.Arg1461Ter, XP_047275069.1:p.Arg1443Ter, XP_047275067.1:p.Arg1458Ter, XP_047275068.1:p.Arg1458Ter, XP_047275071.1:p.Arg1414Ter, XP_047275075.1:p.Arg1352Ter, XP_047275073.1:p.Arg1366Ter, XP_047275074.1:p.Arg1352Ter

    2.

    rs1490520678 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>G [Show Flanks]
      Chromosome:
      6:138424227 (GRCh38)
      6:138745364 (GRCh37)
      Canonical SPDI:
      NC_000006.12:138424226:C:G
      Gene:
      NHSL1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      HGVS:
      NC_000006.12:g.138424227C>G, NC_000006.11:g.138745364C>G, XM_011535974.4:c.4678G>C, XM_011535974.3:c.4678G>C, XM_011535974.2:c.4678G>C, XM_011535974.1:c.4678G>C, XM_011535966.4:c.4873G>C, XM_011535966.3:c.4873G>C, XM_011535966.2:c.4873G>C, XM_011535966.1:c.4873G>C, XM_011535967.4:c.4873G>C, XM_011535967.3:c.4873G>C, XM_011535967.2:c.4873G>C, XM_011535967.1:c.4873G>C, XM_011535971.3:c.4711G>C, XM_011535971.2:c.4711G>C, XM_011535971.1:c.4711G>C, XM_017011086.3:c.4873G>C, XM_017011086.2:c.4873G>C, XM_017011086.1:c.4873G>C, XM_011535970.3:c.4729G>C, XM_011535970.2:c.4729G>C, XM_011535970.1:c.4729G>C, XM_011535969.3:c.4732G>C, XM_011535969.2:c.4732G>C, XM_011535969.1:c.4732G>C, XM_011535973.3:c.4678G>C, XM_011535973.2:c.4678G>C, XM_011535973.1:c.4678G>C, XM_011535972.3:c.4687G>C, XM_011535972.2:c.4687G>C, XM_011535972.1:c.4687G>C, XM_017011088.2:c.4723G>C, XM_017011088.1:c.4723G>C, XM_011535976.2:c.4960G>C, XM_011535976.1:c.4501G>C, NM_020464.2:c.4687G>C, NM_020464.1:c.4687G>C, NM_001144060.2:c.4675G>C, NM_001144060.1:c.4675G>C, XM_017011089.2:c.4633G>C, XM_017011089.1:c.4633G>C, XM_017011087.1:c.4768G>C, XM_047419114.1:c.4714G>C, XM_047419116.1:c.4582G>C, XM_047419109.1:c.4906G>C, XM_047419110.1:c.4828G>C, XM_047419113.1:c.4774G>C, XM_047419111.1:c.4819G>C, XM_047419112.1:c.4819G>C, XM_047419115.1:c.4687G>C, XM_047419119.1:c.4501G>C, XM_047419117.1:c.4543G>C, XM_047419118.1:c.4501G>C, XP_011534276.1:p.Glu1560Gln, XP_011534268.1:p.Glu1625Gln, XP_011534269.1:p.Glu1625Gln, XP_011534273.1:p.Glu1571Gln, XP_016866575.1:p.Glu1625Gln, XP_011534272.1:p.Glu1577Gln, XP_011534271.1:p.Glu1578Gln, XP_011534275.1:p.Glu1560Gln, XP_011534274.1:p.Glu1563Gln, XP_016866577.1:p.Glu1575Gln, XP_011534278.2:p.Glu1654Gln, NP_065197.1:p.Glu1563Gln, NP_001137532.1:p.Glu1559Gln, XP_016866578.1:p.Glu1545Gln, XP_016866576.1:p.Glu1590Gln, XP_047275070.1:p.Glu1572Gln, XP_047275072.1:p.Glu1528Gln, XP_047275065.1:p.Glu1636Gln, XP_047275066.1:p.Glu1610Gln, XP_047275069.1:p.Glu1592Gln, XP_047275067.1:p.Glu1607Gln, XP_047275068.1:p.Glu1607Gln, XP_047275071.1:p.Glu1563Gln, XP_047275075.1:p.Glu1501Gln, XP_047275073.1:p.Glu1515Gln, XP_047275074.1:p.Glu1501Gln

      3.

      rs1490308950 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A,T [Show Flanks]
        Chromosome:
        6:138424235 (GRCh38)
        6:138745372 (GRCh37)
        Canonical SPDI:
        NC_000006.12:138424234:G:A,NC_000006.12:138424234:G:T
        Gene:
        NHSL1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0.00007/1 (ALFA)
        HGVS:
        NC_000006.12:g.138424235G>A, NC_000006.12:g.138424235G>T, NC_000006.11:g.138745372G>A, NC_000006.11:g.138745372G>T, XM_011535974.4:c.4670C>T, XM_011535974.4:c.4670C>A, XM_011535974.3:c.4670C>T, XM_011535974.3:c.4670C>A, XM_011535974.2:c.4670C>T, XM_011535974.2:c.4670C>A, XM_011535974.1:c.4670C>T, XM_011535974.1:c.4670C>A, XM_011535966.4:c.4865C>T, XM_011535966.4:c.4865C>A, XM_011535966.3:c.4865C>T, XM_011535966.3:c.4865C>A, XM_011535966.2:c.4865C>T, XM_011535966.2:c.4865C>A, XM_011535966.1:c.4865C>T, XM_011535966.1:c.4865C>A, XM_011535967.4:c.4865C>T, XM_011535967.4:c.4865C>A, XM_011535967.3:c.4865C>T, XM_011535967.3:c.4865C>A, XM_011535967.2:c.4865C>T, XM_011535967.2:c.4865C>A, XM_011535967.1:c.4865C>T, XM_011535967.1:c.4865C>A, XM_011535971.3:c.4703C>T, XM_011535971.3:c.4703C>A, XM_011535971.2:c.4703C>T, XM_011535971.2:c.4703C>A, XM_011535971.1:c.4703C>T, XM_011535971.1:c.4703C>A, XM_017011086.3:c.4865C>T, XM_017011086.3:c.4865C>A, XM_017011086.2:c.4865C>T, XM_017011086.2:c.4865C>A, XM_017011086.1:c.4865C>T, XM_017011086.1:c.4865C>A, XM_011535970.3:c.4721C>T, XM_011535970.3:c.4721C>A, XM_011535970.2:c.4721C>T, XM_011535970.2:c.4721C>A, XM_011535970.1:c.4721C>T, XM_011535970.1:c.4721C>A, XM_011535969.3:c.4724C>T, XM_011535969.3:c.4724C>A, XM_011535969.2:c.4724C>T, XM_011535969.2:c.4724C>A, XM_011535969.1:c.4724C>T, XM_011535969.1:c.4724C>A, XM_011535973.3:c.4670C>T, XM_011535973.3:c.4670C>A, XM_011535973.2:c.4670C>T, XM_011535973.2:c.4670C>A, XM_011535973.1:c.4670C>T, XM_011535973.1:c.4670C>A, XM_011535972.3:c.4679C>T, XM_011535972.3:c.4679C>A, XM_011535972.2:c.4679C>T, XM_011535972.2:c.4679C>A, XM_011535972.1:c.4679C>T, XM_011535972.1:c.4679C>A, XM_017011088.2:c.4715C>T, XM_017011088.2:c.4715C>A, XM_017011088.1:c.4715C>T, XM_017011088.1:c.4715C>A, XM_011535976.2:c.4952C>T, XM_011535976.2:c.4952C>A, XM_011535976.1:c.4493C>T, XM_011535976.1:c.4493C>A, NM_020464.2:c.4679C>T, NM_020464.2:c.4679C>A, NM_020464.1:c.4679C>T, NM_020464.1:c.4679C>A, NM_001144060.2:c.4667C>T, NM_001144060.2:c.4667C>A, NM_001144060.1:c.4667C>T, NM_001144060.1:c.4667C>A, XM_017011089.2:c.4625C>T, XM_017011089.2:c.4625C>A, XM_017011089.1:c.4625C>T, XM_017011089.1:c.4625C>A, XM_017011087.1:c.4760C>T, XM_017011087.1:c.4760C>A, XM_047419114.1:c.4706C>T, XM_047419114.1:c.4706C>A, XM_047419116.1:c.4574C>T, XM_047419116.1:c.4574C>A, XM_047419109.1:c.4898C>T, XM_047419109.1:c.4898C>A, XM_047419110.1:c.4820C>T, XM_047419110.1:c.4820C>A, XM_047419113.1:c.4766C>T, XM_047419113.1:c.4766C>A, XM_047419111.1:c.4811C>T, XM_047419111.1:c.4811C>A, XM_047419112.1:c.4811C>T, XM_047419112.1:c.4811C>A, XM_047419115.1:c.4679C>T, XM_047419115.1:c.4679C>A, XM_047419119.1:c.4493C>T, XM_047419119.1:c.4493C>A, XM_047419117.1:c.4535C>T, XM_047419117.1:c.4535C>A, XM_047419118.1:c.4493C>T, XM_047419118.1:c.4493C>A, XP_011534276.1:p.Ala1557Val, XP_011534276.1:p.Ala1557Glu, XP_011534268.1:p.Ala1622Val, XP_011534268.1:p.Ala1622Glu, XP_011534269.1:p.Ala1622Val, XP_011534269.1:p.Ala1622Glu, XP_011534273.1:p.Ala1568Val, XP_011534273.1:p.Ala1568Glu, XP_016866575.1:p.Ala1622Val, XP_016866575.1:p.Ala1622Glu, XP_011534272.1:p.Ala1574Val, XP_011534272.1:p.Ala1574Glu, XP_011534271.1:p.Ala1575Val, XP_011534271.1:p.Ala1575Glu, XP_011534275.1:p.Ala1557Val, XP_011534275.1:p.Ala1557Glu, XP_011534274.1:p.Ala1560Val, XP_011534274.1:p.Ala1560Glu, XP_016866577.1:p.Ala1572Val, XP_016866577.1:p.Ala1572Glu, XP_011534278.2:p.Ala1651Val, XP_011534278.2:p.Ala1651Glu, NP_065197.1:p.Ala1560Val, NP_065197.1:p.Ala1560Glu, NP_001137532.1:p.Ala1556Val, NP_001137532.1:p.Ala1556Glu, XP_016866578.1:p.Ala1542Val, XP_016866578.1:p.Ala1542Glu, XP_016866576.1:p.Ala1587Val, XP_016866576.1:p.Ala1587Glu, XP_047275070.1:p.Ala1569Val, XP_047275070.1:p.Ala1569Glu, XP_047275072.1:p.Ala1525Val, XP_047275072.1:p.Ala1525Glu, XP_047275065.1:p.Ala1633Val, XP_047275065.1:p.Ala1633Glu, XP_047275066.1:p.Ala1607Val, XP_047275066.1:p.Ala1607Glu, XP_047275069.1:p.Ala1589Val, XP_047275069.1:p.Ala1589Glu, XP_047275067.1:p.Ala1604Val, XP_047275067.1:p.Ala1604Glu, XP_047275068.1:p.Ala1604Val, XP_047275068.1:p.Ala1604Glu, XP_047275071.1:p.Ala1560Val, XP_047275071.1:p.Ala1560Glu, XP_047275075.1:p.Ala1498Val, XP_047275075.1:p.Ala1498Glu, XP_047275073.1:p.Ala1512Val, XP_047275073.1:p.Ala1512Glu, XP_047275074.1:p.Ala1498Val, XP_047275074.1:p.Ala1498Glu

        4.

        rs1489191644 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          6:138571838 (GRCh38)
          6:138892975 (GRCh37)
          Canonical SPDI:
          NC_000006.12:138571837:C:T
          Gene:
          NHSL1 (Varview)
          Functional Consequence:
          coding_sequence_variant,upstream_transcript_variant,stop_gained,intron_variant,genic_upstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.0004/2 (ALFA)
          T=0.0004/2 (Estonian)
          HGVS:

          5.

          rs1489140721 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            6:138442088 (GRCh38)
            6:138763225 (GRCh37)
            Canonical SPDI:
            NC_000006.12:138442087:G:A
            Gene:
            NHSL1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant,intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0./0 (ALFA)
            A=0.000004/1 (TOPMED)
            A=0.000013/2 (GnomAD_exomes)
            HGVS:
            NC_000006.12:g.138442088G>A, NC_000006.11:g.138763225G>A, XM_011535974.4:c.562C>T, XM_011535974.3:c.562C>T, XM_011535974.2:c.562C>T, XM_011535974.1:c.562C>T, XM_011535966.4:c.757C>T, XM_011535966.3:c.757C>T, XM_011535966.2:c.757C>T, XM_011535966.1:c.757C>T, XM_011535967.4:c.757C>T, XM_011535967.3:c.757C>T, XM_011535967.2:c.757C>T, XM_011535967.1:c.757C>T, XM_011535971.3:c.595C>T, XM_011535971.2:c.595C>T, XM_011535971.1:c.595C>T, XM_017011086.3:c.757C>T, XM_017011086.2:c.757C>T, XM_017011086.1:c.757C>T, XM_011535970.3:c.613C>T, XM_011535970.2:c.613C>T, XM_011535970.1:c.613C>T, XM_011535969.3:c.616C>T, XM_011535969.2:c.616C>T, XM_011535969.1:c.616C>T, XM_011535973.3:c.562C>T, XM_011535973.2:c.562C>T, XM_011535973.1:c.562C>T, XM_011535972.3:c.571C>T, XM_011535972.2:c.571C>T, XM_011535972.1:c.571C>T, XM_017011088.2:c.607C>T, XM_017011088.1:c.607C>T, XM_011535976.2:c.844C>T, XM_011535976.1:c.385C>T, NM_001144060.2:c.559C>T, NM_001144060.1:c.559C>T, XM_017011089.2:c.517C>T, XM_017011089.1:c.517C>T, XM_017011087.1:c.652C>T, XM_047419114.1:c.598C>T, XM_047419109.1:c.790C>T, XM_047419111.1:c.703C>T, XM_047419112.1:c.703C>T, XM_047419119.1:c.385C>T, XP_011534276.1:p.Leu188Phe, XP_011534268.1:p.Leu253Phe, XP_011534269.1:p.Leu253Phe, XP_011534273.1:p.Leu199Phe, XP_016866575.1:p.Leu253Phe, XP_011534272.1:p.Leu205Phe, XP_011534271.1:p.Leu206Phe, XP_011534275.1:p.Leu188Phe, XP_011534274.1:p.Leu191Phe, XP_016866577.1:p.Leu203Phe, XP_011534278.2:p.Leu282Phe, NP_001137532.1:p.Leu187Phe, XP_016866578.1:p.Leu173Phe, XP_016866576.1:p.Leu218Phe, XP_047275070.1:p.Leu200Phe, XP_047275065.1:p.Leu264Phe, XP_047275067.1:p.Leu235Phe, XP_047275068.1:p.Leu235Phe, XP_047275075.1:p.Leu129Phe

            6.

            rs1488978439 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              6:138431235 (GRCh38)
              6:138752372 (GRCh37)
              Canonical SPDI:
              NC_000006.12:138431234:G:A
              Gene:
              NHSL1 (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)
              A=0.000008/1 (GnomAD_exomes)
              HGVS:
              NC_000006.12:g.138431235G>A, NC_000006.11:g.138752372G>A, XM_011535974.4:c.3113C>T, XM_011535974.3:c.3113C>T, XM_011535974.2:c.3113C>T, XM_011535974.1:c.3113C>T, XM_011535966.4:c.3308C>T, XM_011535966.3:c.3308C>T, XM_011535966.2:c.3308C>T, XM_011535966.1:c.3308C>T, XM_011535967.4:c.3308C>T, XM_011535967.3:c.3308C>T, XM_011535967.2:c.3308C>T, XM_011535967.1:c.3308C>T, XM_011535971.3:c.3146C>T, XM_011535971.2:c.3146C>T, XM_011535971.1:c.3146C>T, XM_017011086.3:c.3308C>T, XM_017011086.2:c.3308C>T, XM_017011086.1:c.3308C>T, XM_011535970.3:c.3164C>T, XM_011535970.2:c.3164C>T, XM_011535970.1:c.3164C>T, XM_011535969.3:c.3167C>T, XM_011535969.2:c.3167C>T, XM_011535969.1:c.3167C>T, XM_011535973.3:c.3113C>T, XM_011535973.2:c.3113C>T, XM_011535973.1:c.3113C>T, XM_011535972.3:c.3122C>T, XM_011535972.2:c.3122C>T, XM_011535972.1:c.3122C>T, XM_017011088.2:c.3158C>T, XM_017011088.1:c.3158C>T, XM_011535976.2:c.3395C>T, XM_011535976.1:c.2936C>T, NM_020464.2:c.3122C>T, NM_020464.1:c.3122C>T, NM_001144060.2:c.3110C>T, NM_001144060.1:c.3110C>T, XM_017011089.2:c.3068C>T, XM_017011089.1:c.3068C>T, XM_017011087.1:c.3203C>T, XM_047419114.1:c.3149C>T, XM_047419116.1:c.3017C>T, XM_047419109.1:c.3341C>T, XM_047419110.1:c.3263C>T, XM_047419113.1:c.3209C>T, XM_047419111.1:c.3254C>T, XM_047419112.1:c.3254C>T, XM_047419115.1:c.3122C>T, XM_047419119.1:c.2936C>T, XM_047419117.1:c.2978C>T, XM_047419118.1:c.2936C>T, XP_011534276.1:p.Pro1038Leu, XP_011534268.1:p.Pro1103Leu, XP_011534269.1:p.Pro1103Leu, XP_011534273.1:p.Pro1049Leu, XP_016866575.1:p.Pro1103Leu, XP_011534272.1:p.Pro1055Leu, XP_011534271.1:p.Pro1056Leu, XP_011534275.1:p.Pro1038Leu, XP_011534274.1:p.Pro1041Leu, XP_016866577.1:p.Pro1053Leu, XP_011534278.2:p.Pro1132Leu, NP_065197.1:p.Pro1041Leu, NP_001137532.1:p.Pro1037Leu, XP_016866578.1:p.Pro1023Leu, XP_016866576.1:p.Pro1068Leu, XP_047275070.1:p.Pro1050Leu, XP_047275072.1:p.Pro1006Leu, XP_047275065.1:p.Pro1114Leu, XP_047275066.1:p.Pro1088Leu, XP_047275069.1:p.Pro1070Leu, XP_047275067.1:p.Pro1085Leu, XP_047275068.1:p.Pro1085Leu, XP_047275071.1:p.Pro1041Leu, XP_047275075.1:p.Pro979Leu, XP_047275073.1:p.Pro993Leu, XP_047275074.1:p.Pro979Leu

              7.

              rs1487635639 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                6:138432318 (GRCh38)
                6:138753455 (GRCh37)
                Canonical SPDI:
                NC_000006.12:138432317:G:A
                Gene:
                NHSL1 (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)
                A=0.000007/1 (GnomAD)
                HGVS:
                NC_000006.12:g.138432318G>A, NC_000006.11:g.138753455G>A, XM_011535974.4:c.2030C>T, XM_011535974.3:c.2030C>T, XM_011535974.2:c.2030C>T, XM_011535974.1:c.2030C>T, XM_011535966.4:c.2225C>T, XM_011535966.3:c.2225C>T, XM_011535966.2:c.2225C>T, XM_011535966.1:c.2225C>T, XM_011535967.4:c.2225C>T, XM_011535967.3:c.2225C>T, XM_011535967.2:c.2225C>T, XM_011535967.1:c.2225C>T, XM_011535971.3:c.2063C>T, XM_011535971.2:c.2063C>T, XM_011535971.1:c.2063C>T, XM_017011086.3:c.2225C>T, XM_017011086.2:c.2225C>T, XM_017011086.1:c.2225C>T, XM_011535970.3:c.2081C>T, XM_011535970.2:c.2081C>T, XM_011535970.1:c.2081C>T, XM_011535969.3:c.2084C>T, XM_011535969.2:c.2084C>T, XM_011535969.1:c.2084C>T, XM_011535973.3:c.2030C>T, XM_011535973.2:c.2030C>T, XM_011535973.1:c.2030C>T, XM_011535972.3:c.2039C>T, XM_011535972.2:c.2039C>T, XM_011535972.1:c.2039C>T, XM_017011088.2:c.2075C>T, XM_017011088.1:c.2075C>T, XM_011535976.2:c.2312C>T, XM_011535976.1:c.1853C>T, NM_020464.2:c.2039C>T, NM_020464.1:c.2039C>T, NM_001144060.2:c.2027C>T, NM_001144060.1:c.2027C>T, XM_017011089.2:c.1985C>T, XM_017011089.1:c.1985C>T, XM_017011087.1:c.2120C>T, XM_047419114.1:c.2066C>T, XM_047419116.1:c.1934C>T, XM_047419109.1:c.2258C>T, XM_047419110.1:c.2180C>T, XM_047419113.1:c.2126C>T, XM_047419111.1:c.2171C>T, XM_047419112.1:c.2171C>T, XM_047419115.1:c.2039C>T, XM_047419119.1:c.1853C>T, XM_047419117.1:c.1895C>T, XM_047419118.1:c.1853C>T, XP_011534276.1:p.Ser677Phe, XP_011534268.1:p.Ser742Phe, XP_011534269.1:p.Ser742Phe, XP_011534273.1:p.Ser688Phe, XP_016866575.1:p.Ser742Phe, XP_011534272.1:p.Ser694Phe, XP_011534271.1:p.Ser695Phe, XP_011534275.1:p.Ser677Phe, XP_011534274.1:p.Ser680Phe, XP_016866577.1:p.Ser692Phe, XP_011534278.2:p.Ser771Phe, NP_065197.1:p.Ser680Phe, NP_001137532.1:p.Ser676Phe, XP_016866578.1:p.Ser662Phe, XP_016866576.1:p.Ser707Phe, XP_047275070.1:p.Ser689Phe, XP_047275072.1:p.Ser645Phe, XP_047275065.1:p.Ser753Phe, XP_047275066.1:p.Ser727Phe, XP_047275069.1:p.Ser709Phe, XP_047275067.1:p.Ser724Phe, XP_047275068.1:p.Ser724Phe, XP_047275071.1:p.Ser680Phe, XP_047275075.1:p.Ser618Phe, XP_047275073.1:p.Ser632Phe, XP_047275074.1:p.Ser618Phe

                8.

                rs1487440046 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  T>C [Show Flanks]
                  Chromosome:
                  6:138442014 (GRCh38)
                  6:138763151 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:138442013:T:C
                  Gene:
                  NHSL1 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,synonymous_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  C=0./0 (ALFA)
                  C=0.000004/1 (TOPMED)
                  C=0.000006/1 (GnomAD_exomes)
                  HGVS:
                  NC_000006.12:g.138442014T>C, NC_000006.11:g.138763151T>C, XM_011535974.4:c.636A>G, XM_011535974.3:c.636A>G, XM_011535974.2:c.636A>G, XM_011535974.1:c.636A>G, XM_011535966.4:c.831A>G, XM_011535966.3:c.831A>G, XM_011535966.2:c.831A>G, XM_011535966.1:c.831A>G, XM_011535967.4:c.831A>G, XM_011535967.3:c.831A>G, XM_011535967.2:c.831A>G, XM_011535967.1:c.831A>G, XM_011535971.3:c.669A>G, XM_011535971.2:c.669A>G, XM_011535971.1:c.669A>G, XM_017011086.3:c.831A>G, XM_017011086.2:c.831A>G, XM_017011086.1:c.831A>G, XM_011535970.3:c.687A>G, XM_011535970.2:c.687A>G, XM_011535970.1:c.687A>G, XM_011535969.3:c.690A>G, XM_011535969.2:c.690A>G, XM_011535969.1:c.690A>G, XM_011535973.3:c.636A>G, XM_011535973.2:c.636A>G, XM_011535973.1:c.636A>G, XM_011535972.3:c.645A>G, XM_011535972.2:c.645A>G, XM_011535972.1:c.645A>G, XM_017011088.2:c.681A>G, XM_017011088.1:c.681A>G, XM_011535976.2:c.918A>G, XM_011535976.1:c.459A>G, NM_001144060.2:c.633A>G, NM_001144060.1:c.633A>G, XM_017011089.2:c.591A>G, XM_017011089.1:c.591A>G, XM_017011087.1:c.726A>G, XM_047419114.1:c.672A>G, XM_047419109.1:c.864A>G, XM_047419111.1:c.777A>G, XM_047419112.1:c.777A>G, XM_047419119.1:c.459A>G

                  9.

                  rs1487317345 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    6:138431317 (GRCh38)
                    6:138752454 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:138431316:A:T
                    Gene:
                    NHSL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000007/1 (GnomAD)
                    T=0.000025/3 (GnomAD_exomes)
                    HGVS:
                    NC_000006.12:g.138431317A>T, NC_000006.11:g.138752454A>T, XM_011535974.4:c.3031T>A, XM_011535974.3:c.3031T>A, XM_011535974.2:c.3031T>A, XM_011535974.1:c.3031T>A, XM_011535966.4:c.3226T>A, XM_011535966.3:c.3226T>A, XM_011535966.2:c.3226T>A, XM_011535966.1:c.3226T>A, XM_011535967.4:c.3226T>A, XM_011535967.3:c.3226T>A, XM_011535967.2:c.3226T>A, XM_011535967.1:c.3226T>A, XM_011535971.3:c.3064T>A, XM_011535971.2:c.3064T>A, XM_011535971.1:c.3064T>A, XM_017011086.3:c.3226T>A, XM_017011086.2:c.3226T>A, XM_017011086.1:c.3226T>A, XM_011535970.3:c.3082T>A, XM_011535970.2:c.3082T>A, XM_011535970.1:c.3082T>A, XM_011535969.3:c.3085T>A, XM_011535969.2:c.3085T>A, XM_011535969.1:c.3085T>A, XM_011535973.3:c.3031T>A, XM_011535973.2:c.3031T>A, XM_011535973.1:c.3031T>A, XM_011535972.3:c.3040T>A, XM_011535972.2:c.3040T>A, XM_011535972.1:c.3040T>A, XM_017011088.2:c.3076T>A, XM_017011088.1:c.3076T>A, XM_011535976.2:c.3313T>A, XM_011535976.1:c.2854T>A, NM_020464.2:c.3040T>A, NM_020464.1:c.3040T>A, NM_001144060.2:c.3028T>A, NM_001144060.1:c.3028T>A, XM_017011089.2:c.2986T>A, XM_017011089.1:c.2986T>A, XM_017011087.1:c.3121T>A, XM_047419114.1:c.3067T>A, XM_047419116.1:c.2935T>A, XM_047419109.1:c.3259T>A, XM_047419110.1:c.3181T>A, XM_047419113.1:c.3127T>A, XM_047419111.1:c.3172T>A, XM_047419112.1:c.3172T>A, XM_047419115.1:c.3040T>A, XM_047419119.1:c.2854T>A, XM_047419117.1:c.2896T>A, XM_047419118.1:c.2854T>A, XP_011534276.1:p.Leu1011Met, XP_011534268.1:p.Leu1076Met, XP_011534269.1:p.Leu1076Met, XP_011534273.1:p.Leu1022Met, XP_016866575.1:p.Leu1076Met, XP_011534272.1:p.Leu1028Met, XP_011534271.1:p.Leu1029Met, XP_011534275.1:p.Leu1011Met, XP_011534274.1:p.Leu1014Met, XP_016866577.1:p.Leu1026Met, XP_011534278.2:p.Leu1105Met, NP_065197.1:p.Leu1014Met, NP_001137532.1:p.Leu1010Met, XP_016866578.1:p.Leu996Met, XP_016866576.1:p.Leu1041Met, XP_047275070.1:p.Leu1023Met, XP_047275072.1:p.Leu979Met, XP_047275065.1:p.Leu1087Met, XP_047275066.1:p.Leu1061Met, XP_047275069.1:p.Leu1043Met, XP_047275067.1:p.Leu1058Met, XP_047275068.1:p.Leu1058Met, XP_047275071.1:p.Leu1014Met, XP_047275075.1:p.Leu952Met, XP_047275073.1:p.Leu966Met, XP_047275074.1:p.Leu952Met

                    10.

                    rs1486098845 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      6:138442100 (GRCh38)
                      6:138763237 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:138442099:G:A
                      Gene:
                      NHSL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant,intron_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000006/1 (GnomAD_exomes)
                      A=0.000035/1 (TOMMO)
                      HGVS:
                      NC_000006.12:g.138442100G>A, NC_000006.11:g.138763237G>A, XM_011535974.4:c.550C>T, XM_011535974.3:c.550C>T, XM_011535974.2:c.550C>T, XM_011535974.1:c.550C>T, XM_011535966.4:c.745C>T, XM_011535966.3:c.745C>T, XM_011535966.2:c.745C>T, XM_011535966.1:c.745C>T, XM_011535967.4:c.745C>T, XM_011535967.3:c.745C>T, XM_011535967.2:c.745C>T, XM_011535967.1:c.745C>T, XM_011535971.3:c.583C>T, XM_011535971.2:c.583C>T, XM_011535971.1:c.583C>T, XM_017011086.3:c.745C>T, XM_017011086.2:c.745C>T, XM_017011086.1:c.745C>T, XM_011535970.3:c.601C>T, XM_011535970.2:c.601C>T, XM_011535970.1:c.601C>T, XM_011535969.3:c.604C>T, XM_011535969.2:c.604C>T, XM_011535969.1:c.604C>T, XM_011535973.3:c.550C>T, XM_011535973.2:c.550C>T, XM_011535973.1:c.550C>T, XM_011535972.3:c.559C>T, XM_011535972.2:c.559C>T, XM_011535972.1:c.559C>T, XM_017011088.2:c.595C>T, XM_017011088.1:c.595C>T, XM_011535976.2:c.832C>T, XM_011535976.1:c.373C>T, NM_001144060.2:c.547C>T, NM_001144060.1:c.547C>T, XM_017011089.2:c.505C>T, XM_017011089.1:c.505C>T, XM_017011087.1:c.640C>T, XM_047419114.1:c.586C>T, XM_047419109.1:c.778C>T, XM_047419111.1:c.691C>T, XM_047419112.1:c.691C>T, XM_047419119.1:c.373C>T, XP_011534276.1:p.Arg184Cys, XP_011534268.1:p.Arg249Cys, XP_011534269.1:p.Arg249Cys, XP_011534273.1:p.Arg195Cys, XP_016866575.1:p.Arg249Cys, XP_011534272.1:p.Arg201Cys, XP_011534271.1:p.Arg202Cys, XP_011534275.1:p.Arg184Cys, XP_011534274.1:p.Arg187Cys, XP_016866577.1:p.Arg199Cys, XP_011534278.2:p.Arg278Cys, NP_001137532.1:p.Arg183Cys, XP_016866578.1:p.Arg169Cys, XP_016866576.1:p.Arg214Cys, XP_047275070.1:p.Arg196Cys, XP_047275065.1:p.Arg260Cys, XP_047275067.1:p.Arg231Cys, XP_047275068.1:p.Arg231Cys, XP_047275075.1:p.Arg125Cys

                      11.

                      rs1485535308 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        6:138430748 (GRCh38)
                        6:138751885 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:138430747:G:A
                        Gene:
                        NHSL1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0./0 (ALFA)
                        A=0.000004/1 (TOPMED)
                        HGVS:
                        NC_000006.12:g.138430748G>A, NC_000006.11:g.138751885G>A, XM_011535974.4:c.3600C>T, XM_011535974.3:c.3600C>T, XM_011535974.2:c.3600C>T, XM_011535974.1:c.3600C>T, XM_011535966.4:c.3795C>T, XM_011535966.3:c.3795C>T, XM_011535966.2:c.3795C>T, XM_011535966.1:c.3795C>T, XM_011535967.4:c.3795C>T, XM_011535967.3:c.3795C>T, XM_011535967.2:c.3795C>T, XM_011535967.1:c.3795C>T, XM_011535971.3:c.3633C>T, XM_011535971.2:c.3633C>T, XM_011535971.1:c.3633C>T, XM_017011086.3:c.3795C>T, XM_017011086.2:c.3795C>T, XM_017011086.1:c.3795C>T, XM_011535970.3:c.3651C>T, XM_011535970.2:c.3651C>T, XM_011535970.1:c.3651C>T, XM_011535969.3:c.3654C>T, XM_011535969.2:c.3654C>T, XM_011535969.1:c.3654C>T, XM_011535973.3:c.3600C>T, XM_011535973.2:c.3600C>T, XM_011535973.1:c.3600C>T, XM_011535972.3:c.3609C>T, XM_011535972.2:c.3609C>T, XM_011535972.1:c.3609C>T, XM_017011088.2:c.3645C>T, XM_017011088.1:c.3645C>T, XM_011535976.2:c.3882C>T, XM_011535976.1:c.3423C>T, NM_020464.2:c.3609C>T, NM_020464.1:c.3609C>T, NM_001144060.2:c.3597C>T, NM_001144060.1:c.3597C>T, XM_017011089.2:c.3555C>T, XM_017011089.1:c.3555C>T, XM_017011087.1:c.3690C>T, XM_047419114.1:c.3636C>T, XM_047419116.1:c.3504C>T, XM_047419109.1:c.3828C>T, XM_047419110.1:c.3750C>T, XM_047419113.1:c.3696C>T, XM_047419111.1:c.3741C>T, XM_047419112.1:c.3741C>T, XM_047419115.1:c.3609C>T, XM_047419119.1:c.3423C>T, XM_047419117.1:c.3465C>T, XM_047419118.1:c.3423C>T

                        12.

                        rs1485454685 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          6:138473351 (GRCh38)
                          6:138794488 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:138473350:T:C
                          Gene:
                          NHSL1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          C=0./0 (ALFA)
                          C=0.000011/3 (TOPMED)
                          HGVS:
                          NC_000006.12:g.138473351T>C, NC_000006.11:g.138794488T>C, XM_011535974.4:c.297A>G, XM_011535974.3:c.297A>G, XM_011535974.2:c.297A>G, XM_011535974.1:c.297A>G, XM_011535966.4:c.492A>G, XM_011535966.3:c.492A>G, XM_011535966.2:c.492A>G, XM_011535966.1:c.492A>G, XM_011535967.4:c.492A>G, XM_011535967.3:c.492A>G, XM_011535967.2:c.492A>G, XM_011535967.1:c.492A>G, XM_011535971.3:c.330A>G, XM_011535971.2:c.330A>G, XM_011535971.1:c.330A>G, XM_017011086.3:c.492A>G, XM_017011086.2:c.492A>G, XM_017011086.1:c.492A>G, XM_011535970.3:c.348A>G, XM_011535970.2:c.348A>G, XM_011535970.1:c.348A>G, XM_011535969.3:c.351A>G, XM_011535969.2:c.351A>G, XM_011535969.1:c.351A>G, XM_011535973.3:c.297A>G, XM_011535973.2:c.297A>G, XM_011535973.1:c.297A>G, XM_011535972.3:c.306A>G, XM_011535972.2:c.306A>G, XM_011535972.1:c.306A>G, XM_017011088.2:c.342A>G, XM_017011088.1:c.342A>G, XM_011535976.2:c.579A>G, XM_011535976.1:c.120A>G, NM_020464.2:c.438A>G, NM_020464.1:c.438A>G, NM_001144060.2:c.294A>G, NM_001144060.1:c.294A>G, XM_017011089.2:c.252A>G, XM_017011089.1:c.252A>G, XM_017011087.1:c.387A>G, XM_047419114.1:c.333A>G, XM_047419116.1:c.333A>G, XM_047419109.1:c.525A>G, XM_047419110.1:c.579A>G, XM_047419113.1:c.525A>G, XM_047419111.1:c.438A>G, XM_047419112.1:c.438A>G, XM_047419115.1:c.438A>G, XM_047419119.1:c.120A>G, XM_047419117.1:c.294A>G, XM_047419118.1:c.252A>G

                          13.

                          rs1485068079 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            6:138424292 (GRCh38)
                            6:138745429 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:138424291:T:C
                            Gene:
                            NHSL1 (Varview)
                            Functional Consequence:
                            coding_sequence_variant,missense_variant
                            Validated:
                            by frequency
                            MAF:
                            C=0.000008/1 (GnomAD_exomes)
                            HGVS:
                            NC_000006.12:g.138424292T>C, NC_000006.11:g.138745429T>C, XM_011535974.4:c.4613A>G, XM_011535974.3:c.4613A>G, XM_011535974.2:c.4613A>G, XM_011535974.1:c.4613A>G, XM_011535966.4:c.4808A>G, XM_011535966.3:c.4808A>G, XM_011535966.2:c.4808A>G, XM_011535966.1:c.4808A>G, XM_011535967.4:c.4808A>G, XM_011535967.3:c.4808A>G, XM_011535967.2:c.4808A>G, XM_011535967.1:c.4808A>G, XM_011535971.3:c.4646A>G, XM_011535971.2:c.4646A>G, XM_011535971.1:c.4646A>G, XM_017011086.3:c.4808A>G, XM_017011086.2:c.4808A>G, XM_017011086.1:c.4808A>G, XM_011535970.3:c.4664A>G, XM_011535970.2:c.4664A>G, XM_011535970.1:c.4664A>G, XM_011535969.3:c.4667A>G, XM_011535969.2:c.4667A>G, XM_011535969.1:c.4667A>G, XM_011535973.3:c.4613A>G, XM_011535973.2:c.4613A>G, XM_011535973.1:c.4613A>G, XM_011535972.3:c.4622A>G, XM_011535972.2:c.4622A>G, XM_011535972.1:c.4622A>G, XM_017011088.2:c.4658A>G, XM_017011088.1:c.4658A>G, XM_011535976.2:c.4895A>G, XM_011535976.1:c.4436A>G, NM_020464.2:c.4622A>G, NM_020464.1:c.4622A>G, NM_001144060.2:c.4610A>G, NM_001144060.1:c.4610A>G, XM_017011089.2:c.4568A>G, XM_017011089.1:c.4568A>G, XM_017011087.1:c.4703A>G, XM_047419114.1:c.4649A>G, XM_047419116.1:c.4517A>G, XM_047419109.1:c.4841A>G, XM_047419110.1:c.4763A>G, XM_047419113.1:c.4709A>G, XM_047419111.1:c.4754A>G, XM_047419112.1:c.4754A>G, XM_047419115.1:c.4622A>G, XM_047419119.1:c.4436A>G, XM_047419117.1:c.4478A>G, XM_047419118.1:c.4436A>G, XP_011534276.1:p.Asp1538Gly, XP_011534268.1:p.Asp1603Gly, XP_011534269.1:p.Asp1603Gly, XP_011534273.1:p.Asp1549Gly, XP_016866575.1:p.Asp1603Gly, XP_011534272.1:p.Asp1555Gly, XP_011534271.1:p.Asp1556Gly, XP_011534275.1:p.Asp1538Gly, XP_011534274.1:p.Asp1541Gly, XP_016866577.1:p.Asp1553Gly, XP_011534278.2:p.Asp1632Gly, NP_065197.1:p.Asp1541Gly, NP_001137532.1:p.Asp1537Gly, XP_016866578.1:p.Asp1523Gly, XP_016866576.1:p.Asp1568Gly, XP_047275070.1:p.Asp1550Gly, XP_047275072.1:p.Asp1506Gly, XP_047275065.1:p.Asp1614Gly, XP_047275066.1:p.Asp1588Gly, XP_047275069.1:p.Asp1570Gly, XP_047275067.1:p.Asp1585Gly, XP_047275068.1:p.Asp1585Gly, XP_047275071.1:p.Asp1541Gly, XP_047275075.1:p.Asp1479Gly, XP_047275073.1:p.Asp1493Gly, XP_047275074.1:p.Asp1479Gly

                            14.

                            rs1484922180 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G [Show Flanks]
                              Chromosome:
                              6:138431919 (GRCh38)
                              6:138753056 (GRCh37)
                              Canonical SPDI:
                              NC_000006.12:138431918:C:G
                              Gene:
                              NHSL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0./0 (ALFA)
                              G=0.000004/1 (TOPMED)
                              G=0.000006/1 (GnomAD_exomes)
                              G=0.000007/1 (GnomAD)
                              HGVS:
                              NC_000006.12:g.138431919C>G, NC_000006.11:g.138753056C>G, XM_011535974.4:c.2429G>C, XM_011535974.3:c.2429G>C, XM_011535974.2:c.2429G>C, XM_011535974.1:c.2429G>C, XM_011535966.4:c.2624G>C, XM_011535966.3:c.2624G>C, XM_011535966.2:c.2624G>C, XM_011535966.1:c.2624G>C, XM_011535967.4:c.2624G>C, XM_011535967.3:c.2624G>C, XM_011535967.2:c.2624G>C, XM_011535967.1:c.2624G>C, XM_011535971.3:c.2462G>C, XM_011535971.2:c.2462G>C, XM_011535971.1:c.2462G>C, XM_017011086.3:c.2624G>C, XM_017011086.2:c.2624G>C, XM_017011086.1:c.2624G>C, XM_011535970.3:c.2480G>C, XM_011535970.2:c.2480G>C, XM_011535970.1:c.2480G>C, XM_011535969.3:c.2483G>C, XM_011535969.2:c.2483G>C, XM_011535969.1:c.2483G>C, XM_011535973.3:c.2429G>C, XM_011535973.2:c.2429G>C, XM_011535973.1:c.2429G>C, XM_011535972.3:c.2438G>C, XM_011535972.2:c.2438G>C, XM_011535972.1:c.2438G>C, XM_017011088.2:c.2474G>C, XM_017011088.1:c.2474G>C, XM_011535976.2:c.2711G>C, XM_011535976.1:c.2252G>C, NM_020464.2:c.2438G>C, NM_020464.1:c.2438G>C, NM_001144060.2:c.2426G>C, NM_001144060.1:c.2426G>C, XM_017011089.2:c.2384G>C, XM_017011089.1:c.2384G>C, XM_017011087.1:c.2519G>C, XM_047419114.1:c.2465G>C, XM_047419116.1:c.2333G>C, XM_047419109.1:c.2657G>C, XM_047419110.1:c.2579G>C, XM_047419113.1:c.2525G>C, XM_047419111.1:c.2570G>C, XM_047419112.1:c.2570G>C, XM_047419115.1:c.2438G>C, XM_047419119.1:c.2252G>C, XM_047419117.1:c.2294G>C, XM_047419118.1:c.2252G>C, XP_011534276.1:p.Gly810Ala, XP_011534268.1:p.Gly875Ala, XP_011534269.1:p.Gly875Ala, XP_011534273.1:p.Gly821Ala, XP_016866575.1:p.Gly875Ala, XP_011534272.1:p.Gly827Ala, XP_011534271.1:p.Gly828Ala, XP_011534275.1:p.Gly810Ala, XP_011534274.1:p.Gly813Ala, XP_016866577.1:p.Gly825Ala, XP_011534278.2:p.Gly904Ala, NP_065197.1:p.Gly813Ala, NP_001137532.1:p.Gly809Ala, XP_016866578.1:p.Gly795Ala, XP_016866576.1:p.Gly840Ala, XP_047275070.1:p.Gly822Ala, XP_047275072.1:p.Gly778Ala, XP_047275065.1:p.Gly886Ala, XP_047275066.1:p.Gly860Ala, XP_047275069.1:p.Gly842Ala, XP_047275067.1:p.Gly857Ala, XP_047275068.1:p.Gly857Ala, XP_047275071.1:p.Gly813Ala, XP_047275075.1:p.Gly751Ala, XP_047275073.1:p.Gly765Ala, XP_047275074.1:p.Gly751Ala

                              15.

                              rs1484205837 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>C,G [Show Flanks]
                                Chromosome:
                                6:138431993 (GRCh38)
                                6:138753130 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:138431992:A:C,NC_000006.12:138431992:A:G
                                Gene:
                                NHSL1 (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant,synonymous_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0.000028/1 (ALFA)
                                G=0.000013/2 (GnomAD_exomes)
                                HGVS:
                                NC_000006.12:g.138431993A>C, NC_000006.12:g.138431993A>G, NC_000006.11:g.138753130A>C, NC_000006.11:g.138753130A>G, XM_011535974.4:c.2355T>G, XM_011535974.4:c.2355T>C, XM_011535974.3:c.2355T>G, XM_011535974.3:c.2355T>C, XM_011535974.2:c.2355T>G, XM_011535974.2:c.2355T>C, XM_011535974.1:c.2355T>G, XM_011535974.1:c.2355T>C, XM_011535966.4:c.2550T>G, XM_011535966.4:c.2550T>C, XM_011535966.3:c.2550T>G, XM_011535966.3:c.2550T>C, XM_011535966.2:c.2550T>G, XM_011535966.2:c.2550T>C, XM_011535966.1:c.2550T>G, XM_011535966.1:c.2550T>C, XM_011535967.4:c.2550T>G, XM_011535967.4:c.2550T>C, XM_011535967.3:c.2550T>G, XM_011535967.3:c.2550T>C, XM_011535967.2:c.2550T>G, XM_011535967.2:c.2550T>C, XM_011535967.1:c.2550T>G, XM_011535967.1:c.2550T>C, XM_011535971.3:c.2388T>G, XM_011535971.3:c.2388T>C, XM_011535971.2:c.2388T>G, XM_011535971.2:c.2388T>C, XM_011535971.1:c.2388T>G, XM_011535971.1:c.2388T>C, XM_017011086.3:c.2550T>G, XM_017011086.3:c.2550T>C, XM_017011086.2:c.2550T>G, XM_017011086.2:c.2550T>C, XM_017011086.1:c.2550T>G, XM_017011086.1:c.2550T>C, XM_011535970.3:c.2406T>G, XM_011535970.3:c.2406T>C, XM_011535970.2:c.2406T>G, XM_011535970.2:c.2406T>C, XM_011535970.1:c.2406T>G, XM_011535970.1:c.2406T>C, XM_011535969.3:c.2409T>G, XM_011535969.3:c.2409T>C, XM_011535969.2:c.2409T>G, XM_011535969.2:c.2409T>C, XM_011535969.1:c.2409T>G, XM_011535969.1:c.2409T>C, XM_011535973.3:c.2355T>G, XM_011535973.3:c.2355T>C, XM_011535973.2:c.2355T>G, XM_011535973.2:c.2355T>C, XM_011535973.1:c.2355T>G, XM_011535973.1:c.2355T>C, XM_011535972.3:c.2364T>G, XM_011535972.3:c.2364T>C, XM_011535972.2:c.2364T>G, XM_011535972.2:c.2364T>C, XM_011535972.1:c.2364T>G, XM_011535972.1:c.2364T>C, XM_017011088.2:c.2400T>G, XM_017011088.2:c.2400T>C, XM_017011088.1:c.2400T>G, XM_017011088.1:c.2400T>C, XM_011535976.2:c.2637T>G, XM_011535976.2:c.2637T>C, XM_011535976.1:c.2178T>G, XM_011535976.1:c.2178T>C, NM_020464.2:c.2364T>G, NM_020464.2:c.2364T>C, NM_020464.1:c.2364T>G, NM_020464.1:c.2364T>C, NM_001144060.2:c.2352T>G, NM_001144060.2:c.2352T>C, NM_001144060.1:c.2352T>G, NM_001144060.1:c.2352T>C, XM_017011089.2:c.2310T>G, XM_017011089.2:c.2310T>C, XM_017011089.1:c.2310T>G, XM_017011089.1:c.2310T>C, XM_017011087.1:c.2445T>G, XM_017011087.1:c.2445T>C, XM_047419114.1:c.2391T>G, XM_047419114.1:c.2391T>C, XM_047419116.1:c.2259T>G, XM_047419116.1:c.2259T>C, XM_047419109.1:c.2583T>G, XM_047419109.1:c.2583T>C, XM_047419110.1:c.2505T>G, XM_047419110.1:c.2505T>C, XM_047419113.1:c.2451T>G, XM_047419113.1:c.2451T>C, XM_047419111.1:c.2496T>G, XM_047419111.1:c.2496T>C, XM_047419112.1:c.2496T>G, XM_047419112.1:c.2496T>C, XM_047419115.1:c.2364T>G, XM_047419115.1:c.2364T>C, XM_047419119.1:c.2178T>G, XM_047419119.1:c.2178T>C, XM_047419117.1:c.2220T>G, XM_047419117.1:c.2220T>C, XM_047419118.1:c.2178T>G, XM_047419118.1:c.2178T>C, XP_011534276.1:p.Ile785Met, XP_011534268.1:p.Ile850Met, XP_011534269.1:p.Ile850Met, XP_011534273.1:p.Ile796Met, XP_016866575.1:p.Ile850Met, XP_011534272.1:p.Ile802Met, XP_011534271.1:p.Ile803Met, XP_011534275.1:p.Ile785Met, XP_011534274.1:p.Ile788Met, XP_016866577.1:p.Ile800Met, XP_011534278.2:p.Ile879Met, NP_065197.1:p.Ile788Met, NP_001137532.1:p.Ile784Met, XP_016866578.1:p.Ile770Met, XP_016866576.1:p.Ile815Met, XP_047275070.1:p.Ile797Met, XP_047275072.1:p.Ile753Met, XP_047275065.1:p.Ile861Met, XP_047275066.1:p.Ile835Met, XP_047275069.1:p.Ile817Met, XP_047275067.1:p.Ile832Met, XP_047275068.1:p.Ile832Met, XP_047275071.1:p.Ile788Met, XP_047275075.1:p.Ile726Met, XP_047275073.1:p.Ile740Met, XP_047275074.1:p.Ile726Met

                                16.

                                rs1483952241 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A,C [Show Flanks]
                                  Chromosome:
                                  6:138433479 (GRCh38)
                                  6:138754616 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:138433478:G:A,NC_000006.12:138433478:G:C
                                  Gene:
                                  NHSL1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  A=0./0 (ALFA)
                                  C=0.00034/1 (KOREAN)
                                  C=0.00055/1 (Korea1K)
                                  HGVS:
                                  NC_000006.12:g.138433479G>A, NC_000006.12:g.138433479G>C, NC_000006.11:g.138754616G>A, NC_000006.11:g.138754616G>C, XM_011535974.4:c.869C>T, XM_011535974.4:c.869C>G, XM_011535974.3:c.869C>T, XM_011535974.3:c.869C>G, XM_011535974.2:c.869C>T, XM_011535974.2:c.869C>G, XM_011535974.1:c.869C>T, XM_011535974.1:c.869C>G, XM_011535966.4:c.1064C>T, XM_011535966.4:c.1064C>G, XM_011535966.3:c.1064C>T, XM_011535966.3:c.1064C>G, XM_011535966.2:c.1064C>T, XM_011535966.2:c.1064C>G, XM_011535966.1:c.1064C>T, XM_011535966.1:c.1064C>G, XM_011535967.4:c.1064C>T, XM_011535967.4:c.1064C>G, XM_011535967.3:c.1064C>T, XM_011535967.3:c.1064C>G, XM_011535967.2:c.1064C>T, XM_011535967.2:c.1064C>G, XM_011535967.1:c.1064C>T, XM_011535967.1:c.1064C>G, XM_011535971.3:c.902C>T, XM_011535971.3:c.902C>G, XM_011535971.2:c.902C>T, XM_011535971.2:c.902C>G, XM_011535971.1:c.902C>T, XM_011535971.1:c.902C>G, XM_017011086.3:c.1064C>T, XM_017011086.3:c.1064C>G, XM_017011086.2:c.1064C>T, XM_017011086.2:c.1064C>G, XM_017011086.1:c.1064C>T, XM_017011086.1:c.1064C>G, XM_011535970.3:c.920C>T, XM_011535970.3:c.920C>G, XM_011535970.2:c.920C>T, XM_011535970.2:c.920C>G, XM_011535970.1:c.920C>T, XM_011535970.1:c.920C>G, XM_011535969.3:c.923C>T, XM_011535969.3:c.923C>G, XM_011535969.2:c.923C>T, XM_011535969.2:c.923C>G, XM_011535969.1:c.923C>T, XM_011535969.1:c.923C>G, XM_011535973.3:c.869C>T, XM_011535973.3:c.869C>G, XM_011535973.2:c.869C>T, XM_011535973.2:c.869C>G, XM_011535973.1:c.869C>T, XM_011535973.1:c.869C>G, XM_011535972.3:c.878C>T, XM_011535972.3:c.878C>G, XM_011535972.2:c.878C>T, XM_011535972.2:c.878C>G, XM_011535972.1:c.878C>T, XM_011535972.1:c.878C>G, XM_017011088.2:c.914C>T, XM_017011088.2:c.914C>G, XM_017011088.1:c.914C>T, XM_017011088.1:c.914C>G, XM_011535976.2:c.1151C>T, XM_011535976.2:c.1151C>G, XM_011535976.1:c.692C>T, XM_011535976.1:c.692C>G, NM_020464.2:c.878C>T, NM_020464.2:c.878C>G, NM_020464.1:c.878C>T, NM_020464.1:c.878C>G, NM_001144060.2:c.866C>T, NM_001144060.2:c.866C>G, NM_001144060.1:c.866C>T, NM_001144060.1:c.866C>G, XM_017011089.2:c.824C>T, XM_017011089.2:c.824C>G, XM_017011089.1:c.824C>T, XM_017011089.1:c.824C>G, XM_017011087.1:c.959C>T, XM_017011087.1:c.959C>G, XM_047419114.1:c.905C>T, XM_047419114.1:c.905C>G, XM_047419116.1:c.773C>T, XM_047419116.1:c.773C>G, XM_047419109.1:c.1097C>T, XM_047419109.1:c.1097C>G, XM_047419110.1:c.1019C>T, XM_047419110.1:c.1019C>G, XM_047419113.1:c.965C>T, XM_047419113.1:c.965C>G, XM_047419111.1:c.1010C>T, XM_047419111.1:c.1010C>G, XM_047419112.1:c.1010C>T, XM_047419112.1:c.1010C>G, XM_047419115.1:c.878C>T, XM_047419115.1:c.878C>G, XM_047419119.1:c.692C>T, XM_047419119.1:c.692C>G, XM_047419117.1:c.734C>T, XM_047419117.1:c.734C>G, XM_047419118.1:c.692C>T, XM_047419118.1:c.692C>G, XP_011534276.1:p.Ala290Val, XP_011534276.1:p.Ala290Gly, XP_011534268.1:p.Ala355Val, XP_011534268.1:p.Ala355Gly, XP_011534269.1:p.Ala355Val, XP_011534269.1:p.Ala355Gly, XP_011534273.1:p.Ala301Val, XP_011534273.1:p.Ala301Gly, XP_016866575.1:p.Ala355Val, XP_016866575.1:p.Ala355Gly, XP_011534272.1:p.Ala307Val, XP_011534272.1:p.Ala307Gly, XP_011534271.1:p.Ala308Val, XP_011534271.1:p.Ala308Gly, XP_011534275.1:p.Ala290Val, XP_011534275.1:p.Ala290Gly, XP_011534274.1:p.Ala293Val, XP_011534274.1:p.Ala293Gly, XP_016866577.1:p.Ala305Val, XP_016866577.1:p.Ala305Gly, XP_011534278.2:p.Ala384Val, XP_011534278.2:p.Ala384Gly, NP_065197.1:p.Ala293Val, NP_065197.1:p.Ala293Gly, NP_001137532.1:p.Ala289Val, NP_001137532.1:p.Ala289Gly, XP_016866578.1:p.Ala275Val, XP_016866578.1:p.Ala275Gly, XP_016866576.1:p.Ala320Val, XP_016866576.1:p.Ala320Gly, XP_047275070.1:p.Ala302Val, XP_047275070.1:p.Ala302Gly, XP_047275072.1:p.Ala258Val, XP_047275072.1:p.Ala258Gly, XP_047275065.1:p.Ala366Val, XP_047275065.1:p.Ala366Gly, XP_047275066.1:p.Ala340Val, XP_047275066.1:p.Ala340Gly, XP_047275069.1:p.Ala322Val, XP_047275069.1:p.Ala322Gly, XP_047275067.1:p.Ala337Val, XP_047275067.1:p.Ala337Gly, XP_047275068.1:p.Ala337Val, XP_047275068.1:p.Ala337Gly, XP_047275071.1:p.Ala293Val, XP_047275071.1:p.Ala293Gly, XP_047275075.1:p.Ala231Val, XP_047275075.1:p.Ala231Gly, XP_047275073.1:p.Ala245Val, XP_047275073.1:p.Ala245Gly, XP_047275074.1:p.Ala231Val, XP_047275074.1:p.Ala231Gly

                                  17.

                                  rs1483760540 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>C [Show Flanks]
                                    Chromosome:
                                    6:138430418 (GRCh38)
                                    6:138751555 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:138430417:G:C
                                    Gene:
                                    NHSL1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant
                                    Validated:
                                    by frequency,by cluster
                                    MAF:
                                    C=0.000007/1 (GnomAD)
                                    HGVS:
                                    NC_000006.12:g.138430418G>C, NC_000006.11:g.138751555G>C, XM_011535974.4:c.3930C>G, XM_011535974.3:c.3930C>G, XM_011535974.2:c.3930C>G, XM_011535974.1:c.3930C>G, XM_011535966.4:c.4125C>G, XM_011535966.3:c.4125C>G, XM_011535966.2:c.4125C>G, XM_011535966.1:c.4125C>G, XM_011535967.4:c.4125C>G, XM_011535967.3:c.4125C>G, XM_011535967.2:c.4125C>G, XM_011535967.1:c.4125C>G, XM_011535971.3:c.3963C>G, XM_011535971.2:c.3963C>G, XM_011535971.1:c.3963C>G, XM_017011086.3:c.4125C>G, XM_017011086.2:c.4125C>G, XM_017011086.1:c.4125C>G, XM_011535970.3:c.3981C>G, XM_011535970.2:c.3981C>G, XM_011535970.1:c.3981C>G, XM_011535969.3:c.3984C>G, XM_011535969.2:c.3984C>G, XM_011535969.1:c.3984C>G, XM_011535973.3:c.3930C>G, XM_011535973.2:c.3930C>G, XM_011535973.1:c.3930C>G, XM_011535972.3:c.3939C>G, XM_011535972.2:c.3939C>G, XM_011535972.1:c.3939C>G, XM_017011088.2:c.3975C>G, XM_017011088.1:c.3975C>G, XM_011535976.2:c.4212C>G, XM_011535976.1:c.3753C>G, NM_020464.2:c.3939C>G, NM_020464.1:c.3939C>G, NM_001144060.2:c.3927C>G, NM_001144060.1:c.3927C>G, XM_017011089.2:c.3885C>G, XM_017011089.1:c.3885C>G, XM_017011087.1:c.4020C>G, XM_047419114.1:c.3966C>G, XM_047419116.1:c.3834C>G, XM_047419109.1:c.4158C>G, XM_047419110.1:c.4080C>G, XM_047419113.1:c.4026C>G, XM_047419111.1:c.4071C>G, XM_047419112.1:c.4071C>G, XM_047419115.1:c.3939C>G, XM_047419119.1:c.3753C>G, XM_047419117.1:c.3795C>G, XM_047419118.1:c.3753C>G, XP_011534276.1:p.Ser1310Arg, XP_011534268.1:p.Ser1375Arg, XP_011534269.1:p.Ser1375Arg, XP_011534273.1:p.Ser1321Arg, XP_016866575.1:p.Ser1375Arg, XP_011534272.1:p.Ser1327Arg, XP_011534271.1:p.Ser1328Arg, XP_011534275.1:p.Ser1310Arg, XP_011534274.1:p.Ser1313Arg, XP_016866577.1:p.Ser1325Arg, XP_011534278.2:p.Ser1404Arg, NP_065197.1:p.Ser1313Arg, NP_001137532.1:p.Ser1309Arg, XP_016866578.1:p.Ser1295Arg, XP_016866576.1:p.Ser1340Arg, XP_047275070.1:p.Ser1322Arg, XP_047275072.1:p.Ser1278Arg, XP_047275065.1:p.Ser1386Arg, XP_047275066.1:p.Ser1360Arg, XP_047275069.1:p.Ser1342Arg, XP_047275067.1:p.Ser1357Arg, XP_047275068.1:p.Ser1357Arg, XP_047275071.1:p.Ser1313Arg, XP_047275075.1:p.Ser1251Arg, XP_047275073.1:p.Ser1265Arg, XP_047275074.1:p.Ser1251Arg

                                    18.

                                    rs1483714570 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      6:138430628 (GRCh38)
                                      6:138751765 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:138430627:G:T
                                      Gene:
                                      NHSL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,missense_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      T=0./0 (ALFA)
                                      T=0.000004/1 (TOPMED)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      NC_000006.12:g.138430628G>T, NC_000006.11:g.138751765G>T, XM_011535974.4:c.3720C>A, XM_011535974.3:c.3720C>A, XM_011535974.2:c.3720C>A, XM_011535974.1:c.3720C>A, XM_011535966.4:c.3915C>A, XM_011535966.3:c.3915C>A, XM_011535966.2:c.3915C>A, XM_011535966.1:c.3915C>A, XM_011535967.4:c.3915C>A, XM_011535967.3:c.3915C>A, XM_011535967.2:c.3915C>A, XM_011535967.1:c.3915C>A, XM_011535971.3:c.3753C>A, XM_011535971.2:c.3753C>A, XM_011535971.1:c.3753C>A, XM_017011086.3:c.3915C>A, XM_017011086.2:c.3915C>A, XM_017011086.1:c.3915C>A, XM_011535970.3:c.3771C>A, XM_011535970.2:c.3771C>A, XM_011535970.1:c.3771C>A, XM_011535969.3:c.3774C>A, XM_011535969.2:c.3774C>A, XM_011535969.1:c.3774C>A, XM_011535973.3:c.3720C>A, XM_011535973.2:c.3720C>A, XM_011535973.1:c.3720C>A, XM_011535972.3:c.3729C>A, XM_011535972.2:c.3729C>A, XM_011535972.1:c.3729C>A, XM_017011088.2:c.3765C>A, XM_017011088.1:c.3765C>A, XM_011535976.2:c.4002C>A, XM_011535976.1:c.3543C>A, NM_020464.2:c.3729C>A, NM_020464.1:c.3729C>A, NM_001144060.2:c.3717C>A, NM_001144060.1:c.3717C>A, XM_017011089.2:c.3675C>A, XM_017011089.1:c.3675C>A, XM_017011087.1:c.3810C>A, XM_047419114.1:c.3756C>A, XM_047419116.1:c.3624C>A, XM_047419109.1:c.3948C>A, XM_047419110.1:c.3870C>A, XM_047419113.1:c.3816C>A, XM_047419111.1:c.3861C>A, XM_047419112.1:c.3861C>A, XM_047419115.1:c.3729C>A, XM_047419119.1:c.3543C>A, XM_047419117.1:c.3585C>A, XM_047419118.1:c.3543C>A, XP_011534276.1:p.His1240Gln, XP_011534268.1:p.His1305Gln, XP_011534269.1:p.His1305Gln, XP_011534273.1:p.His1251Gln, XP_016866575.1:p.His1305Gln, XP_011534272.1:p.His1257Gln, XP_011534271.1:p.His1258Gln, XP_011534275.1:p.His1240Gln, XP_011534274.1:p.His1243Gln, XP_016866577.1:p.His1255Gln, XP_011534278.2:p.His1334Gln, NP_065197.1:p.His1243Gln, NP_001137532.1:p.His1239Gln, XP_016866578.1:p.His1225Gln, XP_016866576.1:p.His1270Gln, XP_047275070.1:p.His1252Gln, XP_047275072.1:p.His1208Gln, XP_047275065.1:p.His1316Gln, XP_047275066.1:p.His1290Gln, XP_047275069.1:p.His1272Gln, XP_047275067.1:p.His1287Gln, XP_047275068.1:p.His1287Gln, XP_047275071.1:p.His1243Gln, XP_047275075.1:p.His1181Gln, XP_047275073.1:p.His1195Gln, XP_047275074.1:p.His1181Gln

                                      19.

                                      rs1483556726 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,G [Show Flanks]
                                        Chromosome:
                                        6:138431407 (GRCh38)
                                        6:138752544 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:138431406:T:A,NC_000006.12:138431406:T:G
                                        Gene:
                                        NHSL1 (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0./0 (ALFA)
                                        G=0.000007/1 (GnomAD_exomes)
                                        A=0.000008/2 (TOPMED)
                                        HGVS:
                                        NC_000006.12:g.138431407T>A, NC_000006.12:g.138431407T>G, NC_000006.11:g.138752544T>A, NC_000006.11:g.138752544T>G, XM_011535974.4:c.2941A>T, XM_011535974.4:c.2941A>C, XM_011535974.3:c.2941A>T, XM_011535974.3:c.2941A>C, XM_011535974.2:c.2941A>T, XM_011535974.2:c.2941A>C, XM_011535974.1:c.2941A>T, XM_011535974.1:c.2941A>C, XM_011535966.4:c.3136A>T, XM_011535966.4:c.3136A>C, XM_011535966.3:c.3136A>T, XM_011535966.3:c.3136A>C, XM_011535966.2:c.3136A>T, XM_011535966.2:c.3136A>C, XM_011535966.1:c.3136A>T, XM_011535966.1:c.3136A>C, XM_011535967.4:c.3136A>T, XM_011535967.4:c.3136A>C, XM_011535967.3:c.3136A>T, XM_011535967.3:c.3136A>C, XM_011535967.2:c.3136A>T, XM_011535967.2:c.3136A>C, XM_011535967.1:c.3136A>T, XM_011535967.1:c.3136A>C, XM_011535971.3:c.2974A>T, XM_011535971.3:c.2974A>C, XM_011535971.2:c.2974A>T, XM_011535971.2:c.2974A>C, XM_011535971.1:c.2974A>T, XM_011535971.1:c.2974A>C, XM_017011086.3:c.3136A>T, XM_017011086.3:c.3136A>C, XM_017011086.2:c.3136A>T, XM_017011086.2:c.3136A>C, XM_017011086.1:c.3136A>T, XM_017011086.1:c.3136A>C, XM_011535970.3:c.2992A>T, XM_011535970.3:c.2992A>C, XM_011535970.2:c.2992A>T, XM_011535970.2:c.2992A>C, XM_011535970.1:c.2992A>T, XM_011535970.1:c.2992A>C, XM_011535969.3:c.2995A>T, XM_011535969.3:c.2995A>C, XM_011535969.2:c.2995A>T, XM_011535969.2:c.2995A>C, XM_011535969.1:c.2995A>T, XM_011535969.1:c.2995A>C, XM_011535973.3:c.2941A>T, XM_011535973.3:c.2941A>C, XM_011535973.2:c.2941A>T, XM_011535973.2:c.2941A>C, XM_011535973.1:c.2941A>T, XM_011535973.1:c.2941A>C, XM_011535972.3:c.2950A>T, XM_011535972.3:c.2950A>C, XM_011535972.2:c.2950A>T, XM_011535972.2:c.2950A>C, XM_011535972.1:c.2950A>T, XM_011535972.1:c.2950A>C, XM_017011088.2:c.2986A>T, XM_017011088.2:c.2986A>C, XM_017011088.1:c.2986A>T, XM_017011088.1:c.2986A>C, XM_011535976.2:c.3223A>T, XM_011535976.2:c.3223A>C, XM_011535976.1:c.2764A>T, XM_011535976.1:c.2764A>C, NM_020464.2:c.2950A>T, NM_020464.2:c.2950A>C, NM_020464.1:c.2950A>T, NM_020464.1:c.2950A>C, NM_001144060.2:c.2938A>T, NM_001144060.2:c.2938A>C, NM_001144060.1:c.2938A>T, NM_001144060.1:c.2938A>C, XM_017011089.2:c.2896A>T, XM_017011089.2:c.2896A>C, XM_017011089.1:c.2896A>T, XM_017011089.1:c.2896A>C, XM_017011087.1:c.3031A>T, XM_017011087.1:c.3031A>C, XM_047419114.1:c.2977A>T, XM_047419114.1:c.2977A>C, XM_047419116.1:c.2845A>T, XM_047419116.1:c.2845A>C, XM_047419109.1:c.3169A>T, XM_047419109.1:c.3169A>C, XM_047419110.1:c.3091A>T, XM_047419110.1:c.3091A>C, XM_047419113.1:c.3037A>T, XM_047419113.1:c.3037A>C, XM_047419111.1:c.3082A>T, XM_047419111.1:c.3082A>C, XM_047419112.1:c.3082A>T, XM_047419112.1:c.3082A>C, XM_047419115.1:c.2950A>T, XM_047419115.1:c.2950A>C, XM_047419119.1:c.2764A>T, XM_047419119.1:c.2764A>C, XM_047419117.1:c.2806A>T, XM_047419117.1:c.2806A>C, XM_047419118.1:c.2764A>T, XM_047419118.1:c.2764A>C, XP_011534276.1:p.Ile981Phe, XP_011534276.1:p.Ile981Leu, XP_011534268.1:p.Ile1046Phe, XP_011534268.1:p.Ile1046Leu, XP_011534269.1:p.Ile1046Phe, XP_011534269.1:p.Ile1046Leu, XP_011534273.1:p.Ile992Phe, XP_011534273.1:p.Ile992Leu, XP_016866575.1:p.Ile1046Phe, XP_016866575.1:p.Ile1046Leu, XP_011534272.1:p.Ile998Phe, XP_011534272.1:p.Ile998Leu, XP_011534271.1:p.Ile999Phe, XP_011534271.1:p.Ile999Leu, XP_011534275.1:p.Ile981Phe, XP_011534275.1:p.Ile981Leu, XP_011534274.1:p.Ile984Phe, XP_011534274.1:p.Ile984Leu, XP_016866577.1:p.Ile996Phe, XP_016866577.1:p.Ile996Leu, XP_011534278.2:p.Ile1075Phe, XP_011534278.2:p.Ile1075Leu, NP_065197.1:p.Ile984Phe, NP_065197.1:p.Ile984Leu, NP_001137532.1:p.Ile980Phe, NP_001137532.1:p.Ile980Leu, XP_016866578.1:p.Ile966Phe, XP_016866578.1:p.Ile966Leu, XP_016866576.1:p.Ile1011Phe, XP_016866576.1:p.Ile1011Leu, XP_047275070.1:p.Ile993Phe, XP_047275070.1:p.Ile993Leu, XP_047275072.1:p.Ile949Phe, XP_047275072.1:p.Ile949Leu, XP_047275065.1:p.Ile1057Phe, XP_047275065.1:p.Ile1057Leu, XP_047275066.1:p.Ile1031Phe, XP_047275066.1:p.Ile1031Leu, XP_047275069.1:p.Ile1013Phe, XP_047275069.1:p.Ile1013Leu, XP_047275067.1:p.Ile1028Phe, XP_047275067.1:p.Ile1028Leu, XP_047275068.1:p.Ile1028Phe, XP_047275068.1:p.Ile1028Leu, XP_047275071.1:p.Ile984Phe, XP_047275071.1:p.Ile984Leu, XP_047275075.1:p.Ile922Phe, XP_047275075.1:p.Ile922Leu, XP_047275073.1:p.Ile936Phe, XP_047275073.1:p.Ile936Leu, XP_047275074.1:p.Ile922Phe, XP_047275074.1:p.Ile922Leu

                                        20.

                                        rs1483485589 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          6:138432229 (GRCh38)
                                          6:138753366 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:138432228:G:A
                                          Gene:
                                          NHSL1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000013/2 (GnomAD_exomes)
                                          HGVS:
                                          NC_000006.12:g.138432229G>A, NC_000006.11:g.138753366G>A, XM_011535974.4:c.2119C>T, XM_011535974.3:c.2119C>T, XM_011535974.2:c.2119C>T, XM_011535974.1:c.2119C>T, XM_011535966.4:c.2314C>T, XM_011535966.3:c.2314C>T, XM_011535966.2:c.2314C>T, XM_011535966.1:c.2314C>T, XM_011535967.4:c.2314C>T, XM_011535967.3:c.2314C>T, XM_011535967.2:c.2314C>T, XM_011535967.1:c.2314C>T, XM_011535971.3:c.2152C>T, XM_011535971.2:c.2152C>T, XM_011535971.1:c.2152C>T, XM_017011086.3:c.2314C>T, XM_017011086.2:c.2314C>T, XM_017011086.1:c.2314C>T, XM_011535970.3:c.2170C>T, XM_011535970.2:c.2170C>T, XM_011535970.1:c.2170C>T, XM_011535969.3:c.2173C>T, XM_011535969.2:c.2173C>T, XM_011535969.1:c.2173C>T, XM_011535973.3:c.2119C>T, XM_011535973.2:c.2119C>T, XM_011535973.1:c.2119C>T, XM_011535972.3:c.2128C>T, XM_011535972.2:c.2128C>T, XM_011535972.1:c.2128C>T, XM_017011088.2:c.2164C>T, XM_017011088.1:c.2164C>T, XM_011535976.2:c.2401C>T, XM_011535976.1:c.1942C>T, NM_020464.2:c.2128C>T, NM_020464.1:c.2128C>T, NM_001144060.2:c.2116C>T, NM_001144060.1:c.2116C>T, XM_017011089.2:c.2074C>T, XM_017011089.1:c.2074C>T, XM_017011087.1:c.2209C>T, XM_047419114.1:c.2155C>T, XM_047419116.1:c.2023C>T, XM_047419109.1:c.2347C>T, XM_047419110.1:c.2269C>T, XM_047419113.1:c.2215C>T, XM_047419111.1:c.2260C>T, XM_047419112.1:c.2260C>T, XM_047419115.1:c.2128C>T, XM_047419119.1:c.1942C>T, XM_047419117.1:c.1984C>T, XM_047419118.1:c.1942C>T, XP_011534276.1:p.His707Tyr, XP_011534268.1:p.His772Tyr, XP_011534269.1:p.His772Tyr, XP_011534273.1:p.His718Tyr, XP_016866575.1:p.His772Tyr, XP_011534272.1:p.His724Tyr, XP_011534271.1:p.His725Tyr, XP_011534275.1:p.His707Tyr, XP_011534274.1:p.His710Tyr, XP_016866577.1:p.His722Tyr, XP_011534278.2:p.His801Tyr, NP_065197.1:p.His710Tyr, NP_001137532.1:p.His706Tyr, XP_016866578.1:p.His692Tyr, XP_016866576.1:p.His737Tyr, XP_047275070.1:p.His719Tyr, XP_047275072.1:p.His675Tyr, XP_047275065.1:p.His783Tyr, XP_047275066.1:p.His757Tyr, XP_047275069.1:p.His739Tyr, XP_047275067.1:p.His754Tyr, XP_047275068.1:p.His754Tyr, XP_047275071.1:p.His710Tyr, XP_047275075.1:p.His648Tyr, XP_047275073.1:p.His662Tyr, XP_047275074.1:p.His648Tyr

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