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Items: 1 to 20 of 666

1.

rs1489926999 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A [Show Flanks]
    Chromosome:
    1:182460123 (GRCh38)
    1:182429258 (GRCh37)
    Canonical SPDI:
    NC_000001.11:182460122:C:A
    Gene:
    RGSL1 (Varview)
    Functional Consequence:
    synonymous_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
    Validated:
    by frequency,by cluster
    MAF:
    A=0.000007/1 (GnomAD)
    HGVS:

    2.

    rs1489333868 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C [Show Flanks]
      Chromosome:
      1:182532755 (GRCh38)
      1:182501890 (GRCh37)
      Canonical SPDI:
      NC_000001.11:182532754:G:C
      Gene:
      RGSL1 (Varview)
      Functional Consequence:
      genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      C=0.000006/1 (GnomAD_exomes)
      HGVS:
      NC_000001.11:g.182532755G>C, NC_000001.10:g.182501890G>C, XM_017001193.3:c.2524G>C, XM_017001193.2:c.2524G>C, XM_017001193.1:c.2524G>C, XM_017001192.3:c.2524G>C, XM_017001192.2:c.2524G>C, XM_017001192.1:c.2524G>C, XM_011509494.3:c.2563G>C, XM_011509494.2:c.2563G>C, XM_011509494.1:c.2563G>C, XM_017001190.2:c.2524G>C, XM_017001190.1:c.2524G>C, XM_017001188.2:c.2563G>C, XM_017001188.1:c.2563G>C, XM_017001189.2:c.2524G>C, XM_017001189.1:c.2524G>C, NM_001137669.2:c.2458G>C, NM_001137669.1:c.2458G>C, NM_181572.2:c.730G>C, XM_017001191.1:c.2524G>C, NM_001366934.1:c.2563G>C, XM_047419632.1:c.2257G>C, XM_047419638.1:c.2563G>C, XM_047419640.1:c.1027G>C, XM_017001196.1:c.1027G>C, XM_047419642.1:c.973G>C, NM_181572.1:c.730G>C, XP_016856682.1:p.Asp842His, XP_016856681.1:p.Asp842His, XP_011507796.1:p.Asp855His, XP_016856679.1:p.Asp842His, XP_016856677.1:p.Asp855His, XP_016856678.1:p.Asp842His, NP_001131141.1:p.Asp820His, XP_016856680.1:p.Asp842His, NP_001353863.1:p.Asp855His, XP_047275588.1:p.Asp753His, XP_047275594.1:p.Asp855His, XP_047275596.1:p.Asp343His, XP_016856685.1:p.Asp343His, XP_047275598.1:p.Asp325His

      3.

      rs1489301984 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        1:182551117 (GRCh38)
        1:182520252 (GRCh37)
        Canonical SPDI:
        NC_000001.11:182551116:C:T
        Gene:
        RGSL1 (Varview)
        Functional Consequence:
        genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,missense_variant
        Validated:
        by frequency
        MAF:
        T=0.000006/1 (GnomAD_exomes)
        HGVS:
        NC_000001.11:g.182551117C>T, NC_000001.10:g.182520252C>T, XM_017001193.3:c.3017C>T, XM_017001193.2:c.3017C>T, XM_017001193.1:c.3017C>T, XM_017001192.3:c.3017C>T, XM_017001192.2:c.3017C>T, XM_017001192.1:c.3017C>T, XM_011509494.3:c.*65C>T, XM_011509494.2:c.*65C>T, XM_011509494.1:c.*65C>T, XM_017001190.2:c.3017C>T, XM_017001190.1:c.3017C>T, XM_017001188.2:c.3056C>T, XM_017001188.1:c.3056C>T, XM_017001189.2:c.3017C>T, XM_017001189.1:c.3017C>T, NM_001137669.2:c.2951C>T, NM_001137669.1:c.2951C>T, NM_181572.2:c.1223C>T, XM_017001191.1:c.3017C>T, NM_001366934.1:c.3056C>T, XM_047419632.1:c.2750C>T, XM_047419638.1:c.2931C>T, XM_047419640.1:c.1520C>T, XM_017001196.1:c.1520C>T, XM_047419642.1:c.1466C>T, NM_181572.1:c.1223C>T, XP_016856682.1:p.Ala1006Val, XP_016856681.1:p.Ala1006Val, XP_016856679.1:p.Ala1006Val, XP_016856677.1:p.Ala1019Val, XP_016856678.1:p.Ala1006Val, NP_001131141.1:p.Ala984Val, XP_016856680.1:p.Ala1006Val, NP_001353863.1:p.Ala1019Val, XP_047275588.1:p.Ala917Val, XP_047275596.1:p.Ala507Val, XP_016856685.1:p.Ala507Val, XP_047275598.1:p.Ala489Val

        4.

        rs1487454464 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          1:182560431 (GRCh38)
          1:182529566 (GRCh37)
          Canonical SPDI:
          NC_000001.11:182560430:C:A,NC_000001.11:182560430:C:T
          Gene:
          RGSL1 (Varview)
          Functional Consequence:
          3_prime_UTR_variant,genic_downstream_transcript_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000042/11 (TOPMED)
          T=0.00005/7 (GnomAD)
          T=0.000071/1 (TOMMO)
          HGVS:
          NC_000001.11:g.182560431C>A, NC_000001.11:g.182560431C>T, NC_000001.10:g.182529566C>A, NC_000001.10:g.182529566C>T, XM_017001193.3:c.*318C>A, XM_017001193.3:c.*318C>T, XM_017001193.2:c.*318C>A, XM_017001193.2:c.*318C>T, XM_017001193.1:c.*318C>A, XM_017001193.1:c.*318C>T, XM_017001192.3:c.*318C>A, XM_017001192.3:c.*318C>T, XM_017001192.2:c.*318C>A, XM_017001192.2:c.*318C>T, XM_017001192.1:c.*318C>A, XM_017001192.1:c.*318C>T, XM_017001190.2:c.*318C>A, XM_017001190.2:c.*318C>T, XM_017001190.1:c.*318C>A, XM_017001190.1:c.*318C>T, XM_017001188.2:c.*471C>A, XM_017001188.2:c.*471C>T, XM_017001188.1:c.*471C>A, XM_017001188.1:c.*471C>T, XM_017001189.2:c.*318C>A, XM_017001189.2:c.*318C>T, XM_017001189.1:c.*318C>A, XM_017001189.1:c.*318C>T, NM_001137669.2:c.*318C>A, NM_001137669.2:c.*318C>T, NM_001137669.1:c.*318C>A, NM_001137669.1:c.*318C>T, NM_181572.2:c.*318C>A, NM_181572.2:c.*318C>T, XM_017001191.1:c.*318C>A, XM_017001191.1:c.*318C>T, NM_001366934.1:c.*318C>A, NM_001366934.1:c.*318C>T, XM_047419632.1:c.*318C>A, XM_047419632.1:c.*318C>T, XM_047419640.1:c.*318C>A, XM_047419640.1:c.*318C>T, XM_017001196.1:c.*318C>A, XM_017001196.1:c.*318C>T, XM_047419642.1:c.*318C>A, XM_047419642.1:c.*318C>T

          5.

          rs1486108661 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            1:182527598 (GRCh38)
            1:182496733 (GRCh37)
            Canonical SPDI:
            NC_000001.11:182527597:T:C
            Gene:
            RGSL1 (Varview)
            Functional Consequence:
            synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000006/1 (GnomAD_exomes)
            C=0.000007/1 (GnomAD)
            C=0.000011/3 (TOPMED)
            HGVS:

            6.

            rs1486105570 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>C [Show Flanks]
              Chromosome:
              1:182489158 (GRCh38)
              1:182458293 (GRCh37)
              Canonical SPDI:
              NC_000001.11:182489157:G:C
              Gene:
              RGSL1 (Varview)
              Functional Consequence:
              missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0./0 (ALFA)
              C=0.000013/2 (GnomAD_exomes)
              C=0.000015/4 (TOPMED)
              HGVS:
              NC_000001.11:g.182489158G>C, NC_000001.10:g.182458293G>C, XM_017001193.3:c.1739G>C, XM_017001193.2:c.1739G>C, XM_017001193.1:c.1739G>C, XM_017001192.3:c.1739G>C, XM_017001192.2:c.1739G>C, XM_017001192.1:c.1739G>C, XM_011509494.3:c.1778G>C, XM_011509494.2:c.1778G>C, XM_011509494.1:c.1778G>C, XM_017001190.2:c.1739G>C, XM_017001190.1:c.1739G>C, XM_017001188.2:c.1778G>C, XM_017001188.1:c.1778G>C, XM_017001189.2:c.1739G>C, XM_017001189.1:c.1739G>C, NM_001137669.2:c.1673G>C, NM_001137669.1:c.1673G>C, XM_011509500.2:c.1778G>C, XM_011509500.1:c.1778G>C, XM_017001191.1:c.1739G>C, NM_001366934.1:c.1778G>C, XM_047419632.1:c.1472G>C, XM_047419638.1:c.1778G>C, XM_047419640.1:c.242G>C, XM_017001196.1:c.242G>C, XM_047419642.1:c.188G>C, XP_016856682.1:p.Gly580Ala, XP_016856681.1:p.Gly580Ala, XP_011507796.1:p.Gly593Ala, XP_016856679.1:p.Gly580Ala, XP_016856677.1:p.Gly593Ala, XP_016856678.1:p.Gly580Ala, NP_001131141.1:p.Gly558Ala, XP_011507802.1:p.Gly593Ala, XP_016856680.1:p.Gly580Ala, NP_001353863.1:p.Gly593Ala, XP_047275588.1:p.Gly491Ala, XP_047275594.1:p.Gly593Ala, XP_047275596.1:p.Gly81Ala, XP_016856685.1:p.Gly81Ala, XP_047275598.1:p.Gly63Ala

              7.

              rs1485994333 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                1:182530289 (GRCh38)
                1:182499424 (GRCh37)
                Canonical SPDI:
                NC_000001.11:182530288:CC:C
                Gene:
                RGSL1 (Varview)
                Functional Consequence:
                frameshift_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                -=0.000013/2 (GnomAD_exomes)
                HGVS:
                NC_000001.11:g.182530290del, NC_000001.10:g.182499425del, XM_017001193.3:c.2238del, XM_017001193.2:c.2238del, XM_017001193.1:c.2238del, XM_017001192.3:c.2238del, XM_017001192.2:c.2238del, XM_017001192.1:c.2238del, XM_011509494.3:c.2277del, XM_011509494.2:c.2277del, XM_011509494.1:c.2277del, XM_017001190.2:c.2238del, XM_017001190.1:c.2238del, XM_017001188.2:c.2277del, XM_017001188.1:c.2277del, XM_017001189.2:c.2238del, XM_017001189.1:c.2238del, NM_001137669.2:c.2172del, NM_001137669.1:c.2172del, XM_011509500.2:c.2277del, XM_011509500.1:c.2277del, NM_181572.2:c.444del, XM_017001191.1:c.2238del, NM_001366934.1:c.2277del, XM_047419632.1:c.1971del, XM_047419638.1:c.2277del, XM_047419640.1:c.741del, XM_017001196.1:c.741del, XM_047419642.1:c.687del, NM_181572.1:c.444del, XP_016856682.1:p.Met747fs, XP_016856681.1:p.Met747fs, XP_011507796.1:p.Met760fs, XP_016856679.1:p.Met747fs, XP_016856677.1:p.Met760fs, XP_016856678.1:p.Met747fs, NP_001131141.1:p.Met725fs, XP_011507802.1:p.Met760fs, XP_016856680.1:p.Met747fs, NP_001353863.1:p.Met760fs, XP_047275588.1:p.Met658fs, XP_047275594.1:p.Met760fs, XP_047275596.1:p.Met248fs, XP_016856685.1:p.Met248fs, XP_047275598.1:p.Met230fs

                8.

                rs1484576281 [Homo sapiens]
                  Variant type:
                  DELINS
                  Alleles:
                  G>- [Show Flanks]
                  Chromosome:
                  1:182489111 (GRCh38)
                  1:182458246 (GRCh37)
                  Canonical SPDI:
                  NC_000001.11:182489110:GG:G
                  Gene:
                  RGSL1 (Varview)
                  Functional Consequence:
                  frameshift_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  GG=0.000071/1 (ALFA)
                  -=0.000007/1 (GnomAD)
                  HGVS:
                  NC_000001.11:g.182489112del, NC_000001.10:g.182458247del, XM_017001193.3:c.1693del, XM_017001193.2:c.1693del, XM_017001193.1:c.1693del, XM_017001192.3:c.1693del, XM_017001192.2:c.1693del, XM_017001192.1:c.1693del, XM_011509494.3:c.1732del, XM_011509494.2:c.1732del, XM_011509494.1:c.1732del, XM_017001190.2:c.1693del, XM_017001190.1:c.1693del, XM_017001188.2:c.1732del, XM_017001188.1:c.1732del, XM_017001189.2:c.1693del, XM_017001189.1:c.1693del, NM_001137669.2:c.1627del, NM_001137669.1:c.1627del, XM_011509500.2:c.1732del, XM_011509500.1:c.1732del, XM_017001191.1:c.1693del, NM_001366934.1:c.1732del, XM_047419632.1:c.1426del, XM_047419638.1:c.1732del, XM_047419640.1:c.196del, XM_017001196.1:c.196del, XM_047419642.1:c.142del, XP_016856682.1:p.Asp565fs, XP_016856681.1:p.Asp565fs, XP_011507796.1:p.Asp578fs, XP_016856679.1:p.Asp565fs, XP_016856677.1:p.Asp578fs, XP_016856678.1:p.Asp565fs, NP_001131141.1:p.Asp543fs, XP_011507802.1:p.Asp578fs, XP_016856680.1:p.Asp565fs, NP_001353863.1:p.Asp578fs, XP_047275588.1:p.Asp476fs, XP_047275594.1:p.Asp578fs, XP_047275596.1:p.Asp66fs, XP_016856685.1:p.Asp66fs, XP_047275598.1:p.Asp48fs

                  9.

                  rs1482831033 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    A>T [Show Flanks]
                    Chromosome:
                    1:182489058 (GRCh38)
                    1:182458193 (GRCh37)
                    Canonical SPDI:
                    NC_000001.11:182489057:A:T
                    Gene:
                    RGSL1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Validated:
                    by frequency,by alfa
                    MAF:
                    T=0./0 (ALFA)
                    T=0.000008/2 (TOPMED)
                    HGVS:
                    NC_000001.11:g.182489058A>T, NC_000001.10:g.182458193A>T, XM_017001193.3:c.1639A>T, XM_017001193.2:c.1639A>T, XM_017001193.1:c.1639A>T, XM_017001192.3:c.1639A>T, XM_017001192.2:c.1639A>T, XM_017001192.1:c.1639A>T, XM_011509494.3:c.1678A>T, XM_011509494.2:c.1678A>T, XM_011509494.1:c.1678A>T, XM_017001190.2:c.1639A>T, XM_017001190.1:c.1639A>T, XM_017001188.2:c.1678A>T, XM_017001188.1:c.1678A>T, XM_017001189.2:c.1639A>T, XM_017001189.1:c.1639A>T, NM_001137669.2:c.1573A>T, NM_001137669.1:c.1573A>T, XM_011509500.2:c.1678A>T, XM_011509500.1:c.1678A>T, XM_017001191.1:c.1639A>T, NM_001366934.1:c.1678A>T, XM_047419632.1:c.1372A>T, XM_047419638.1:c.1678A>T, XM_047419640.1:c.142A>T, XM_017001196.1:c.142A>T, XM_047419642.1:c.88A>T, XP_016856682.1:p.Arg547Trp, XP_016856681.1:p.Arg547Trp, XP_011507796.1:p.Arg560Trp, XP_016856679.1:p.Arg547Trp, XP_016856677.1:p.Arg560Trp, XP_016856678.1:p.Arg547Trp, NP_001131141.1:p.Arg525Trp, XP_011507802.1:p.Arg560Trp, XP_016856680.1:p.Arg547Trp, NP_001353863.1:p.Arg560Trp, XP_047275588.1:p.Arg458Trp, XP_047275594.1:p.Arg560Trp, XP_047275596.1:p.Arg48Trp, XP_016856685.1:p.Arg48Trp, XP_047275598.1:p.Arg30Trp

                    10.

                    rs1482574070 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>G [Show Flanks]
                      Chromosome:
                      1:182548420 (GRCh38)
                      1:182517555 (GRCh37)
                      Canonical SPDI:
                      NC_000001.11:182548419:C:G
                      Gene:
                      RGSL1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      G=0.000047/1 (ALFA)
                      G=0.000006/1 (GnomAD_exomes)
                      HGVS:
                      NC_000001.11:g.182548420C>G, NC_000001.10:g.182517555C>G, XM_017001193.3:c.2839C>G, XM_017001193.2:c.2839C>G, XM_017001193.1:c.2839C>G, XM_017001192.3:c.2839C>G, XM_017001192.2:c.2839C>G, XM_017001192.1:c.2839C>G, XM_011509494.3:c.2878C>G, XM_011509494.2:c.2878C>G, XM_011509494.1:c.2878C>G, XM_017001190.2:c.2839C>G, XM_017001190.1:c.2839C>G, XM_017001188.2:c.2878C>G, XM_017001188.1:c.2878C>G, XM_017001189.2:c.2839C>G, XM_017001189.1:c.2839C>G, NM_001137669.2:c.2773C>G, NM_001137669.1:c.2773C>G, NM_181572.2:c.1045C>G, XM_017001191.1:c.2839C>G, NM_001366934.1:c.2878C>G, XM_047419632.1:c.2572C>G, XM_047419638.1:c.2878C>G, XM_047419640.1:c.1342C>G, XM_017001196.1:c.1342C>G, XM_047419642.1:c.1288C>G, NM_181572.1:c.1045C>G, XP_016856682.1:p.Leu947Val, XP_016856681.1:p.Leu947Val, XP_011507796.1:p.Leu960Val, XP_016856679.1:p.Leu947Val, XP_016856677.1:p.Leu960Val, XP_016856678.1:p.Leu947Val, NP_001131141.1:p.Leu925Val, XP_016856680.1:p.Leu947Val, NP_001353863.1:p.Leu960Val, XP_047275588.1:p.Leu858Val, XP_047275594.1:p.Leu960Val, XP_047275596.1:p.Leu448Val, XP_016856685.1:p.Leu448Val, XP_047275598.1:p.Leu430Val

                      11.

                      rs1481855656 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        1:182493042 (GRCh38)
                        1:182462177 (GRCh37)
                        Canonical SPDI:
                        NC_000001.11:182493041:G:A
                        Gene:
                        RGSL1 (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=0.000006/1 (GnomAD_exomes)
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000001.11:g.182493042G>A, NC_000001.10:g.182462177G>A, XM_017001193.3:c.1804G>A, XM_017001193.2:c.1804G>A, XM_017001193.1:c.1804G>A, XM_017001192.3:c.1804G>A, XM_017001192.2:c.1804G>A, XM_017001192.1:c.1804G>A, XM_011509494.3:c.1843G>A, XM_011509494.2:c.1843G>A, XM_011509494.1:c.1843G>A, XM_017001190.2:c.1804G>A, XM_017001190.1:c.1804G>A, XM_017001188.2:c.1843G>A, XM_017001188.1:c.1843G>A, XM_017001189.2:c.1804G>A, XM_017001189.1:c.1804G>A, NM_001137669.2:c.1738G>A, NM_001137669.1:c.1738G>A, XM_011509500.2:c.1843G>A, XM_011509500.1:c.1843G>A, NM_181572.2:c.10G>A, XM_017001191.1:c.1804G>A, NM_001366934.1:c.1843G>A, XM_047419632.1:c.1537G>A, XM_047419638.1:c.1843G>A, XM_047419640.1:c.307G>A, XM_017001196.1:c.307G>A, XM_047419642.1:c.253G>A, NM_181572.1:c.10G>A, XP_016856682.1:p.Glu602Lys, XP_016856681.1:p.Glu602Lys, XP_011507796.1:p.Glu615Lys, XP_016856679.1:p.Glu602Lys, XP_016856677.1:p.Glu615Lys, XP_016856678.1:p.Glu602Lys, NP_001131141.1:p.Glu580Lys, XP_011507802.1:p.Glu615Lys, XP_016856680.1:p.Glu602Lys, NP_001353863.1:p.Glu615Lys, XP_047275588.1:p.Glu513Lys, XP_047275594.1:p.Glu615Lys, XP_047275596.1:p.Glu103Lys, XP_016856685.1:p.Glu103Lys, XP_047275598.1:p.Glu85Lys

                        12.

                        rs1481247985 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          C>T [Show Flanks]
                          Chromosome:
                          1:182493063 (GRCh38)
                          1:182462198 (GRCh37)
                          Canonical SPDI:
                          NC_000001.11:182493062:C:T
                          Gene:
                          RGSL1 (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)
                          HGVS:
                          NC_000001.11:g.182493063C>T, NC_000001.10:g.182462198C>T, XM_017001193.3:c.1825C>T, XM_017001193.2:c.1825C>T, XM_017001193.1:c.1825C>T, XM_017001192.3:c.1825C>T, XM_017001192.2:c.1825C>T, XM_017001192.1:c.1825C>T, XM_011509494.3:c.1864C>T, XM_011509494.2:c.1864C>T, XM_011509494.1:c.1864C>T, XM_017001190.2:c.1825C>T, XM_017001190.1:c.1825C>T, XM_017001188.2:c.1864C>T, XM_017001188.1:c.1864C>T, XM_017001189.2:c.1825C>T, XM_017001189.1:c.1825C>T, NM_001137669.2:c.1759C>T, NM_001137669.1:c.1759C>T, XM_011509500.2:c.1864C>T, XM_011509500.1:c.1864C>T, NM_181572.2:c.31C>T, XM_017001191.1:c.1825C>T, NM_001366934.1:c.1864C>T, XM_047419632.1:c.1558C>T, XM_047419638.1:c.1864C>T, XM_047419640.1:c.328C>T, XM_017001196.1:c.328C>T, XM_047419642.1:c.274C>T, NM_181572.1:c.31C>T, XP_016856682.1:p.Pro609Ser, XP_016856681.1:p.Pro609Ser, XP_011507796.1:p.Pro622Ser, XP_016856679.1:p.Pro609Ser, XP_016856677.1:p.Pro622Ser, XP_016856678.1:p.Pro609Ser, NP_001131141.1:p.Pro587Ser, XP_011507802.1:p.Pro622Ser, XP_016856680.1:p.Pro609Ser, NP_001353863.1:p.Pro622Ser, XP_047275588.1:p.Pro520Ser, XP_047275594.1:p.Pro622Ser, XP_047275596.1:p.Pro110Ser, XP_016856685.1:p.Pro110Ser, XP_047275598.1:p.Pro92Ser

                          13.

                          rs1481059619 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>A,T [Show Flanks]
                            Chromosome:
                            1:182556070 (GRCh38)
                            1:182525205 (GRCh37)
                            Canonical SPDI:
                            NC_000001.11:182556069:C:A,NC_000001.11:182556069:C:T
                            Gene:
                            RGSL1 (Varview)
                            Functional Consequence:
                            3_prime_UTR_variant,genic_downstream_transcript_variant
                            Validated:
                            by frequency,by alfa
                            MAF:
                            T=0./0 (ALFA)
                            A=0.000019/3 (GnomAD_exomes)
                            HGVS:
                            NC_000001.11:g.182556070C>A, NC_000001.11:g.182556070C>T, NC_000001.10:g.182525205C>A, NC_000001.10:g.182525205C>T, XM_017001193.3:c.*13C>A, XM_017001193.3:c.*13C>T, XM_017001193.2:c.*13C>A, XM_017001193.2:c.*13C>T, XM_017001193.1:c.*13C>A, XM_017001193.1:c.*13C>T, XM_017001192.3:c.*13C>A, XM_017001192.3:c.*13C>T, XM_017001192.2:c.*13C>A, XM_017001192.2:c.*13C>T, XM_017001192.1:c.*13C>A, XM_017001192.1:c.*13C>T, XM_017001190.2:c.*13C>A, XM_017001190.2:c.*13C>T, XM_017001190.1:c.*13C>A, XM_017001190.1:c.*13C>T, XM_017001188.2:c.*166C>A, XM_017001188.2:c.*166C>T, XM_017001188.1:c.*166C>A, XM_017001188.1:c.*166C>T, XM_017001189.2:c.*13C>A, XM_017001189.2:c.*13C>T, XM_017001189.1:c.*13C>A, XM_017001189.1:c.*13C>T, NM_001137669.2:c.*13C>A, NM_001137669.2:c.*13C>T, NM_001137669.1:c.*13C>A, NM_001137669.1:c.*13C>T, NM_181572.2:c.*13C>A, NM_181572.2:c.*13C>T, XM_017001191.1:c.*13C>A, XM_017001191.1:c.*13C>T, NM_001366934.1:c.*13C>A, NM_001366934.1:c.*13C>T, XM_047419632.1:c.*13C>A, XM_047419632.1:c.*13C>T, XM_047419640.1:c.*13C>A, XM_047419640.1:c.*13C>T, XM_017001196.1:c.*13C>A, XM_017001196.1:c.*13C>T, XM_047419642.1:c.*13C>A, XM_047419642.1:c.*13C>T

                            14.

                            rs1480248706 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>G [Show Flanks]
                              Chromosome:
                              1:182493105 (GRCh38)
                              1:182462240 (GRCh37)
                              Canonical SPDI:
                              NC_000001.11:182493104:T:G
                              Gene:
                              RGSL1 (Varview)
                              Functional Consequence:
                              coding_sequence_variant,missense_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              G=0.000895/4 (ALFA)
                              G=0.000021/3 (GnomAD)
                              G=0.000893/4 (Estonian)
                              HGVS:
                              NC_000001.11:g.182493105T>G, NC_000001.10:g.182462240T>G, XM_017001193.3:c.1867T>G, XM_017001193.2:c.1867T>G, XM_017001193.1:c.1867T>G, XM_017001192.3:c.1867T>G, XM_017001192.2:c.1867T>G, XM_017001192.1:c.1867T>G, XM_011509494.3:c.1906T>G, XM_011509494.2:c.1906T>G, XM_011509494.1:c.1906T>G, XM_017001190.2:c.1867T>G, XM_017001190.1:c.1867T>G, XM_017001188.2:c.1906T>G, XM_017001188.1:c.1906T>G, XM_017001189.2:c.1867T>G, XM_017001189.1:c.1867T>G, NM_001137669.2:c.1801T>G, NM_001137669.1:c.1801T>G, XM_011509500.2:c.1906T>G, XM_011509500.1:c.1906T>G, NM_181572.2:c.73T>G, XM_017001191.1:c.1867T>G, NM_001366934.1:c.1906T>G, XM_047419632.1:c.1600T>G, XM_047419638.1:c.1906T>G, XM_047419640.1:c.370T>G, XM_017001196.1:c.370T>G, XM_047419642.1:c.316T>G, NM_181572.1:c.73T>G, XP_016856682.1:p.Tyr623Asp, XP_016856681.1:p.Tyr623Asp, XP_011507796.1:p.Tyr636Asp, XP_016856679.1:p.Tyr623Asp, XP_016856677.1:p.Tyr636Asp, XP_016856678.1:p.Tyr623Asp, NP_001131141.1:p.Tyr601Asp, XP_011507802.1:p.Tyr636Asp, XP_016856680.1:p.Tyr623Asp, NP_001353863.1:p.Tyr636Asp, XP_047275588.1:p.Tyr534Asp, XP_047275594.1:p.Tyr636Asp, XP_047275596.1:p.Tyr124Asp, XP_016856685.1:p.Tyr124Asp, XP_047275598.1:p.Tyr106Asp

                              15.

                              rs1478253100 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                1:182560293 (GRCh38)
                                1:182529428 (GRCh37)
                                Canonical SPDI:
                                NC_000001.11:182560292:C:T
                                Gene:
                                RGSL1 (Varview)
                                Functional Consequence:
                                3_prime_UTR_variant,genic_downstream_transcript_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0./0 (ALFA)
                                T=0.000015/4 (TOPMED)
                                T=0.000021/3 (GnomAD)
                                HGVS:

                                16.

                                rs1476868341 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>C [Show Flanks]
                                  Chromosome:
                                  1:182548785 (GRCh38)
                                  1:182517920 (GRCh37)
                                  Canonical SPDI:
                                  NC_000001.11:182548784:T:C
                                  Gene:
                                  RGSL1 (Varview)
                                  Functional Consequence:
                                  intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  C=0.0001/1 (ALFA)
                                  HGVS:
                                  NC_000001.11:g.182548785T>C, NC_000001.10:g.182517920T>C, XM_017001193.3:c.2960T>C, XM_017001193.2:c.2960T>C, XM_017001193.1:c.2960T>C, XM_017001192.3:c.2960T>C, XM_017001192.2:c.2960T>C, XM_017001192.1:c.2960T>C, XM_011509494.3:c.2999T>C, XM_011509494.2:c.2999T>C, XM_011509494.1:c.2999T>C, XM_017001190.2:c.2960T>C, XM_017001190.1:c.2960T>C, XM_017001188.2:c.2999T>C, XM_017001188.1:c.2999T>C, XM_017001189.2:c.2960T>C, XM_017001189.1:c.2960T>C, NM_001137669.2:c.2894T>C, NM_001137669.1:c.2894T>C, NM_181572.2:c.1166T>C, XM_017001191.1:c.2960T>C, NM_001366934.1:c.2999T>C, XM_047419632.1:c.2693T>C, XM_047419640.1:c.1463T>C, XM_017001196.1:c.1463T>C, XM_047419642.1:c.1409T>C, NM_181572.1:c.1166T>C, XP_016856682.1:p.Ile987Thr, XP_016856681.1:p.Ile987Thr, XP_011507796.1:p.Ile1000Thr, XP_016856679.1:p.Ile987Thr, XP_016856677.1:p.Ile1000Thr, XP_016856678.1:p.Ile987Thr, NP_001131141.1:p.Ile965Thr, XP_016856680.1:p.Ile987Thr, NP_001353863.1:p.Ile1000Thr, XP_047275588.1:p.Ile898Thr, XP_047275596.1:p.Ile488Thr, XP_016856685.1:p.Ile488Thr, XP_047275598.1:p.Ile470Thr

                                  17.

                                  rs1476673738 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    1:182532736 (GRCh38)
                                    1:182501871 (GRCh37)
                                    Canonical SPDI:
                                    NC_000001.11:182532735:T:C
                                    Gene:
                                    RGSL1 (Varview)
                                    Functional Consequence:
                                    3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000015/4 (TOPMED)
                                    HGVS:

                                    18.

                                    rs1476567099 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      G>T [Show Flanks]
                                      Chromosome:
                                      1:182548378 (GRCh38)
                                      1:182517513 (GRCh37)
                                      Canonical SPDI:
                                      NC_000001.11:182548377:G:T
                                      Gene:
                                      RGSL1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,genic_downstream_transcript_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_000001.11:g.182548378G>T, NC_000001.10:g.182517513G>T, XM_017001193.3:c.2797G>T, XM_017001193.2:c.2797G>T, XM_017001193.1:c.2797G>T, XM_017001192.3:c.2797G>T, XM_017001192.2:c.2797G>T, XM_017001192.1:c.2797G>T, XM_011509494.3:c.2836G>T, XM_011509494.2:c.2836G>T, XM_011509494.1:c.2836G>T, XM_017001190.2:c.2797G>T, XM_017001190.1:c.2797G>T, XM_017001188.2:c.2836G>T, XM_017001188.1:c.2836G>T, XM_017001189.2:c.2797G>T, XM_017001189.1:c.2797G>T, NM_001137669.2:c.2731G>T, NM_001137669.1:c.2731G>T, NM_181572.2:c.1003G>T, XM_017001191.1:c.2797G>T, NM_001366934.1:c.2836G>T, XM_047419632.1:c.2530G>T, XM_047419638.1:c.2836G>T, XM_047419640.1:c.1300G>T, XM_017001196.1:c.1300G>T, XM_047419642.1:c.1246G>T, NM_181572.1:c.1003G>T, XP_016856682.1:p.Asp933Tyr, XP_016856681.1:p.Asp933Tyr, XP_011507796.1:p.Asp946Tyr, XP_016856679.1:p.Asp933Tyr, XP_016856677.1:p.Asp946Tyr, XP_016856678.1:p.Asp933Tyr, NP_001131141.1:p.Asp911Tyr, XP_016856680.1:p.Asp933Tyr, NP_001353863.1:p.Asp946Tyr, XP_047275588.1:p.Asp844Tyr, XP_047275594.1:p.Asp946Tyr, XP_047275596.1:p.Asp434Tyr, XP_016856685.1:p.Asp434Tyr, XP_047275598.1:p.Asp416Tyr

                                      19.

                                      rs1474634752 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        C>T [Show Flanks]
                                        Chromosome:
                                        1:182530297 (GRCh38)
                                        1:182499432 (GRCh37)
                                        Canonical SPDI:
                                        NC_000001.11:182530296:C:T
                                        Gene:
                                        RGSL1 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency
                                        MAF:
                                        T=0.000006/1 (GnomAD_exomes)
                                        HGVS:
                                        NC_000001.11:g.182530297C>T, NC_000001.10:g.182499432C>T, XM_017001193.3:c.2245C>T, XM_017001193.2:c.2245C>T, XM_017001193.1:c.2245C>T, XM_017001192.3:c.2245C>T, XM_017001192.2:c.2245C>T, XM_017001192.1:c.2245C>T, XM_011509494.3:c.2284C>T, XM_011509494.2:c.2284C>T, XM_011509494.1:c.2284C>T, XM_017001190.2:c.2245C>T, XM_017001190.1:c.2245C>T, XM_017001188.2:c.2284C>T, XM_017001188.1:c.2284C>T, XM_017001189.2:c.2245C>T, XM_017001189.1:c.2245C>T, NM_001137669.2:c.2179C>T, NM_001137669.1:c.2179C>T, XM_011509500.2:c.2284C>T, XM_011509500.1:c.2284C>T, NM_181572.2:c.451C>T, XM_017001191.1:c.2245C>T, NM_001366934.1:c.2284C>T, XM_047419632.1:c.1978C>T, XM_047419638.1:c.2284C>T, XM_047419640.1:c.748C>T, XM_017001196.1:c.748C>T, XM_047419642.1:c.694C>T, NM_181572.1:c.451C>T, XP_016856682.1:p.His749Tyr, XP_016856681.1:p.His749Tyr, XP_011507796.1:p.His762Tyr, XP_016856679.1:p.His749Tyr, XP_016856677.1:p.His762Tyr, XP_016856678.1:p.His749Tyr, NP_001131141.1:p.His727Tyr, XP_011507802.1:p.His762Tyr, XP_016856680.1:p.His749Tyr, NP_001353863.1:p.His762Tyr, XP_047275588.1:p.His660Tyr, XP_047275594.1:p.His762Tyr, XP_047275596.1:p.His250Tyr, XP_016856685.1:p.His250Tyr, XP_047275598.1:p.His232Tyr

                                        20.

                                        rs1473038201 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>G,T [Show Flanks]
                                          Chromosome:
                                          1:182551122 (GRCh38)
                                          1:182520257 (GRCh37)
                                          Canonical SPDI:
                                          NC_000001.11:182551121:C:G,NC_000001.11:182551121:C:T
                                          Gene:
                                          RGSL1 (Varview)
                                          Functional Consequence:
                                          missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0.000071/1 (ALFA)
                                          T=0.000006/1 (GnomAD_exomes)
                                          T=0.000035/1 (TOMMO)
                                          T=0.00005/7 (GnomAD)
                                          HGVS:
                                          NC_000001.11:g.182551122C>G, NC_000001.11:g.182551122C>T, NC_000001.10:g.182520257C>G, NC_000001.10:g.182520257C>T, XM_017001193.3:c.3022C>G, XM_017001193.3:c.3022C>T, XM_017001193.2:c.3022C>G, XM_017001193.2:c.3022C>T, XM_017001193.1:c.3022C>G, XM_017001193.1:c.3022C>T, XM_017001192.3:c.3022C>G, XM_017001192.3:c.3022C>T, XM_017001192.2:c.3022C>G, XM_017001192.2:c.3022C>T, XM_017001192.1:c.3022C>G, XM_017001192.1:c.3022C>T, XM_011509494.3:c.*70C>G, XM_011509494.3:c.*70C>T, XM_011509494.2:c.*70C>G, XM_011509494.2:c.*70C>T, XM_011509494.1:c.*70C>G, XM_011509494.1:c.*70C>T, XM_017001190.2:c.3022C>G, XM_017001190.2:c.3022C>T, XM_017001190.1:c.3022C>G, XM_017001190.1:c.3022C>T, XM_017001188.2:c.3061C>G, XM_017001188.2:c.3061C>T, XM_017001188.1:c.3061C>G, XM_017001188.1:c.3061C>T, XM_017001189.2:c.3022C>G, XM_017001189.2:c.3022C>T, XM_017001189.1:c.3022C>G, XM_017001189.1:c.3022C>T, NM_001137669.2:c.2956C>G, NM_001137669.2:c.2956C>T, NM_001137669.1:c.2956C>G, NM_001137669.1:c.2956C>T, NM_181572.2:c.1228C>G, NM_181572.2:c.1228C>T, XM_017001191.1:c.3022C>G, XM_017001191.1:c.3022C>T, NM_001366934.1:c.3061C>G, NM_001366934.1:c.3061C>T, XM_047419632.1:c.2755C>G, XM_047419632.1:c.2755C>T, XM_047419638.1:c.2936C>G, XM_047419638.1:c.2936C>T, XM_047419640.1:c.1525C>G, XM_047419640.1:c.1525C>T, XM_017001196.1:c.1525C>G, XM_017001196.1:c.1525C>T, XM_047419642.1:c.1471C>G, XM_047419642.1:c.1471C>T, NM_181572.1:c.1228C>G, NM_181572.1:c.1228C>T, XP_016856682.1:p.Arg1008Gly, XP_016856682.1:p.Arg1008Cys, XP_016856681.1:p.Arg1008Gly, XP_016856681.1:p.Arg1008Cys, XP_016856679.1:p.Arg1008Gly, XP_016856679.1:p.Arg1008Cys, XP_016856677.1:p.Arg1021Gly, XP_016856677.1:p.Arg1021Cys, XP_016856678.1:p.Arg1008Gly, XP_016856678.1:p.Arg1008Cys, NP_001131141.1:p.Arg986Gly, NP_001131141.1:p.Arg986Cys, XP_016856680.1:p.Arg1008Gly, XP_016856680.1:p.Arg1008Cys, NP_001353863.1:p.Arg1021Gly, NP_001353863.1:p.Arg1021Cys, XP_047275588.1:p.Arg919Gly, XP_047275588.1:p.Arg919Cys, XP_047275594.1:p.Pro979Arg, XP_047275594.1:p.Pro979Leu, XP_047275596.1:p.Arg509Gly, XP_047275596.1:p.Arg509Cys, XP_016856685.1:p.Arg509Gly, XP_016856685.1:p.Arg509Cys, XP_047275598.1:p.Arg491Gly, XP_047275598.1:p.Arg491Cys

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