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Items: 1 to 20 of 3522

1.

rs1490684386 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C [Show Flanks]
    Chromosome:
    2:219484170 (GRCh38)
    2:220348892 (GRCh37)
    Canonical SPDI:
    NC_000002.12:219484169:A:C
    Gene:
    SPEG (Varview), ASIC4-AS1 (Varview)
    Functional Consequence:
    intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa
    MAF:
    C=0./0 (ALFA)
    C=0.000004/1 (TOPMED)
    HGVS:
    NC_000002.12:g.219484170A>C, NC_000002.11:g.220348892A>C, NG_051022.1:g.54956A>C, NM_005876.5:c.6707A>C, NM_005876.4:c.6707A>C, XM_005246242.5:c.4346A>C, XM_005246242.4:c.4346A>C, XM_005246242.3:c.4346A>C, XM_005246242.2:c.4346A>C, XM_005246242.1:c.4346A>C, XM_006712189.4:c.6395A>C, XM_006712189.3:c.6395A>C, XM_006712189.2:c.6395A>C, XM_006712189.1:c.6395A>C, XM_006712193.4:c.4160A>C, XM_006712193.3:c.4160A>C, XM_006712193.2:c.4160A>C, XM_006712193.1:c.4160A>C, XM_011510479.3:c.6737A>C, XM_011510479.2:c.6737A>C, XM_011510479.1:c.6737A>C, XM_005246237.3:c.6425A>C, XM_005246237.2:c.6425A>C, XM_005246237.1:c.6425A>C, XM_005246239.3:c.4331A>C, XM_005246239.2:c.4331A>C, XM_005246239.1:c.4331A>C, XM_017003159.3:c.6737A>C, XM_017003159.2:c.4331A>C, XM_017003159.1:c.4331A>C, XM_005246241.2:c.4160A>C, XM_005246241.1:c.4160A>C, XM_005246240.2:c.4160A>C, XM_005246240.1:c.4160A>C, XM_047442891.1:c.6737A>C, XM_047442892.1:c.6560A>C, XM_047442893.1:c.6554A>C, XM_047442894.1:c.6530A>C, XM_047442895.1:c.6347A>C, XM_047442898.1:c.4331A>C, XM_047442896.1:c.6248A>C, XM_047442897.1:c.6218A>C, XM_047442900.1:c.4331A>C, NP_005867.3:p.Gln2236Pro, XP_005246299.1:p.Gln1449Pro, XP_006712252.1:p.Gln2132Pro, XP_006712256.1:p.Gln1387Pro, XP_011508781.1:p.Gln2246Pro, XP_005246294.1:p.Gln2142Pro, XP_005246296.1:p.Gln1444Pro, XP_016858648.2:p.Gln2246Pro, XP_005246298.1:p.Gln1387Pro, XP_005246297.1:p.Gln1387Pro, XP_047298847.1:p.Gln2246Pro, XP_047298848.1:p.Gln2187Pro, XP_047298849.1:p.Gln2185Pro, XP_047298850.1:p.Gln2177Pro, XP_047298851.1:p.Gln2116Pro, XP_047298854.1:p.Gln1444Pro, XP_047298852.1:p.Gln2083Pro, XP_047298853.1:p.Gln2073Pro, XP_047298856.1:p.Gln1444Pro

    2.

    rs1490657359 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      2:219445125 (GRCh38)
      2:220309847 (GRCh37)
      Canonical SPDI:
      NC_000002.12:219445124:T:C
      Gene:
      SPEG (Varview)
      Functional Consequence:
      intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.000008/2 (TOPMED)
      C=0.000014/2 (GnomAD)
      HGVS:
      NC_000002.12:g.219445125T>C, NC_000002.11:g.220309847T>C, NG_051022.1:g.15911T>C, NM_005876.5:c.779T>C, NM_005876.4:c.779T>C, XM_006712189.4:c.467T>C, XM_006712189.3:c.467T>C, XM_006712189.2:c.467T>C, XM_006712189.1:c.467T>C, XM_011510479.3:c.809T>C, XM_011510479.2:c.809T>C, XM_011510479.1:c.809T>C, XM_005246237.3:c.497T>C, XM_005246237.2:c.497T>C, XM_005246237.1:c.497T>C, XM_017003159.3:c.809T>C, XM_017003159.2:c.-1598T>C, XM_017003159.1:c.-1598T>C, XM_017003162.3:c.809T>C, XM_017003162.2:c.-1598T>C, XM_017003162.1:c.-1598T>C, XM_017003161.3:c.809T>C, XM_017003161.2:c.-1598T>C, XM_017003161.1:c.-1598T>C, XM_024452526.2:c.809T>C, XM_024452526.1:c.-1586T>C, XM_047442891.1:c.809T>C, XM_047442893.1:c.809T>C, XM_047442898.1:c.-1598T>C, XM_047442901.1:c.809T>C, XM_047442917.1:c.-1598T>C, XM_047442904.1:c.497T>C, XM_047442905.1:c.467T>C, XM_047442918.1:c.-1598T>C, XM_047442908.1:c.497T>C, XM_047442921.1:c.-1586T>C, XM_047442910.1:c.440T>C, NP_005867.3:p.Phe260Ser, XP_006712252.1:p.Phe156Ser, XP_011508781.1:p.Phe270Ser, XP_005246294.1:p.Phe166Ser, XP_016858648.2:p.Phe270Ser, XP_016858651.2:p.Phe270Ser, XP_016858650.2:p.Phe270Ser, XP_024308294.2:p.Phe270Ser, XP_047298847.1:p.Phe270Ser, XP_047298849.1:p.Phe270Ser, XP_047298857.1:p.Phe270Ser, XP_047298860.1:p.Phe166Ser, XP_047298861.1:p.Phe156Ser, XP_047298864.1:p.Phe166Ser, XP_047298866.1:p.Phe147Ser

      3.

      rs1490646538 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        2:219484715 (GRCh38)
        2:220349437 (GRCh37)
        Canonical SPDI:
        NC_000002.12:219484714:C:T
        Gene:
        SPEG (Varview), ASIC4-AS1 (Varview)
        Functional Consequence:
        intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0./0 (ALFA)
        T=0.000015/4 (TOPMED)
        T=0.000021/3 (GnomAD)
        HGVS:
        NC_000002.12:g.219484715C>T, NC_000002.11:g.220349437C>T, NG_051022.1:g.55501C>T, NM_005876.5:c.7252C>T, NM_005876.4:c.7252C>T, XM_005246242.5:c.4891C>T, XM_005246242.4:c.4891C>T, XM_005246242.3:c.4891C>T, XM_005246242.2:c.4891C>T, XM_005246242.1:c.4891C>T, XM_006712189.4:c.6940C>T, XM_006712189.3:c.6940C>T, XM_006712189.2:c.6940C>T, XM_006712189.1:c.6940C>T, XM_006712193.4:c.4705C>T, XM_006712193.3:c.4705C>T, XM_006712193.2:c.4705C>T, XM_006712193.1:c.4705C>T, XM_011510479.3:c.7282C>T, XM_011510479.2:c.7282C>T, XM_011510479.1:c.7282C>T, XM_005246237.3:c.6970C>T, XM_005246237.2:c.6970C>T, XM_005246237.1:c.6970C>T, XM_005246239.3:c.4876C>T, XM_005246239.2:c.4876C>T, XM_005246239.1:c.4876C>T, XM_017003159.3:c.7282C>T, XM_017003159.2:c.4876C>T, XM_017003159.1:c.4876C>T, XM_005246241.2:c.4705C>T, XM_005246241.1:c.4705C>T, XM_005246240.2:c.4705C>T, XM_005246240.1:c.4705C>T, XM_047442891.1:c.7282C>T, XM_047442892.1:c.7105C>T, XM_047442893.1:c.7099C>T, XM_047442894.1:c.7075C>T, XM_047442895.1:c.6892C>T, XM_047442898.1:c.4876C>T, XM_047442896.1:c.6793C>T, XM_047442897.1:c.6763C>T, XM_047442900.1:c.4876C>T, NP_005867.3:p.Arg2418Trp, XP_005246299.1:p.Arg1631Trp, XP_006712252.1:p.Arg2314Trp, XP_006712256.1:p.Arg1569Trp, XP_011508781.1:p.Arg2428Trp, XP_005246294.1:p.Arg2324Trp, XP_005246296.1:p.Arg1626Trp, XP_016858648.2:p.Arg2428Trp, XP_005246298.1:p.Arg1569Trp, XP_005246297.1:p.Arg1569Trp, XP_047298847.1:p.Arg2428Trp, XP_047298848.1:p.Arg2369Trp, XP_047298849.1:p.Arg2367Trp, XP_047298850.1:p.Arg2359Trp, XP_047298851.1:p.Arg2298Trp, XP_047298854.1:p.Arg1626Trp, XP_047298852.1:p.Arg2265Trp, XP_047298853.1:p.Arg2255Trp, XP_047298856.1:p.Arg1626Trp

        4.

        rs1490557620 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>A [Show Flanks]
          Chromosome:
          2:219467418 (GRCh38)
          2:220332140 (GRCh37)
          Canonical SPDI:
          NC_000002.12:219467417:G:A
          Gene:
          SPEG (Varview)
          Functional Consequence:
          downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          A=0./0 (ALFA)
          A=0.000004/1 (TOPMED)
          A=0.000014/2 (GnomAD)
          HGVS:
          NC_000002.12:g.219467418G>A, NC_000002.11:g.220332140G>A, NG_051022.1:g.38204G>A, NM_005876.5:c.3126G>A, NM_005876.4:c.3126G>A, XM_005246242.5:c.765G>A, XM_005246242.4:c.765G>A, XM_005246242.3:c.765G>A, XM_005246242.2:c.765G>A, XM_005246242.1:c.765G>A, XM_006712189.4:c.2814G>A, XM_006712189.3:c.2814G>A, XM_006712189.2:c.2814G>A, XM_006712189.1:c.2814G>A, XM_006712193.4:c.579G>A, XM_006712193.3:c.579G>A, XM_006712193.2:c.579G>A, XM_006712193.1:c.579G>A, XM_011510479.3:c.3156G>A, XM_011510479.2:c.3156G>A, XM_011510479.1:c.3156G>A, XM_005246237.3:c.2844G>A, XM_005246237.2:c.2844G>A, XM_005246237.1:c.2844G>A, XM_005246239.3:c.750G>A, XM_005246239.2:c.750G>A, XM_005246239.1:c.750G>A, XM_017003159.3:c.3156G>A, XM_017003159.2:c.750G>A, XM_017003159.1:c.750G>A, XM_005246241.2:c.579G>A, XM_005246241.1:c.579G>A, XM_005246240.2:c.579G>A, XM_005246240.1:c.579G>A, XM_047442891.1:c.3156G>A, XM_047442892.1:c.2979G>A, XM_047442893.1:c.2973G>A, XM_047442894.1:c.2949G>A, XM_047442895.1:c.2766G>A, XM_047442898.1:c.750G>A, XM_047442896.1:c.2667G>A, XM_047442897.1:c.2637G>A, XM_047442900.1:c.750G>A, XM_047442901.1:c.3156G>A

          5.

          rs1489963121 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            T>C [Show Flanks]
            Chromosome:
            2:219476925 (GRCh38)
            2:220341647 (GRCh37)
            Canonical SPDI:
            NC_000002.12:219476924:T:C
            Gene:
            SPEG (Varview)
            Functional Consequence:
            genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000004/1 (TOPMED)
            C=0.000007/1 (GnomAD)
            HGVS:
            NC_000002.12:g.219476925T>C, NC_000002.11:g.220341647T>C, NG_051022.1:g.47711T>C, NM_005876.5:c.4503T>C, NM_005876.4:c.4503T>C, XM_005246242.5:c.2142T>C, XM_005246242.4:c.2142T>C, XM_005246242.3:c.2142T>C, XM_005246242.2:c.2142T>C, XM_005246242.1:c.2142T>C, XM_006712189.4:c.4191T>C, XM_006712189.3:c.4191T>C, XM_006712189.2:c.4191T>C, XM_006712189.1:c.4191T>C, XM_006712193.4:c.1956T>C, XM_006712193.3:c.1956T>C, XM_006712193.2:c.1956T>C, XM_006712193.1:c.1956T>C, XM_011510479.3:c.4533T>C, XM_011510479.2:c.4533T>C, XM_011510479.1:c.4533T>C, XM_005246237.3:c.4221T>C, XM_005246237.2:c.4221T>C, XM_005246237.1:c.4221T>C, XM_005246239.3:c.2127T>C, XM_005246239.2:c.2127T>C, XM_005246239.1:c.2127T>C, XM_017003159.3:c.4533T>C, XM_017003159.2:c.2127T>C, XM_017003159.1:c.2127T>C, XM_005246241.2:c.1956T>C, XM_005246241.1:c.1956T>C, XM_005246240.2:c.1956T>C, XM_005246240.1:c.1956T>C, XM_047442891.1:c.4533T>C, XM_047442892.1:c.4356T>C, XM_047442893.1:c.4350T>C, XM_047442894.1:c.4326T>C, XM_047442895.1:c.4143T>C, XM_047442898.1:c.2127T>C, XM_047442896.1:c.4044T>C, XM_047442897.1:c.4014T>C, XM_047442900.1:c.2127T>C, XM_047442901.1:c.4533T>C

            6.

            rs1489711817 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>G [Show Flanks]
              Chromosome:
              2:219477976 (GRCh38)
              2:220342698 (GRCh37)
              Canonical SPDI:
              NC_000002.12:219477975:C:G
              Gene:
              SPEG (Varview)
              Functional Consequence:
              genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
              Validated:
              by frequency,by alfa
              MAF:
              G=0./0 (ALFA)
              G=0.000008/2 (TOPMED)
              HGVS:
              NC_000002.12:g.219477976C>G, NC_000002.11:g.220342698C>G, NG_051022.1:g.48762C>G, NM_005876.5:c.4898C>G, NM_005876.4:c.4898C>G, XM_005246242.5:c.2537C>G, XM_005246242.4:c.2537C>G, XM_005246242.3:c.2537C>G, XM_005246242.2:c.2537C>G, XM_005246242.1:c.2537C>G, XM_006712189.4:c.4586C>G, XM_006712189.3:c.4586C>G, XM_006712189.2:c.4586C>G, XM_006712189.1:c.4586C>G, XM_006712193.4:c.2351C>G, XM_006712193.3:c.2351C>G, XM_006712193.2:c.2351C>G, XM_006712193.1:c.2351C>G, XM_011510479.3:c.4928C>G, XM_011510479.2:c.4928C>G, XM_011510479.1:c.4928C>G, XM_005246237.3:c.4616C>G, XM_005246237.2:c.4616C>G, XM_005246237.1:c.4616C>G, XM_005246239.3:c.2522C>G, XM_005246239.2:c.2522C>G, XM_005246239.1:c.2522C>G, XM_017003159.3:c.4928C>G, XM_017003159.2:c.2522C>G, XM_017003159.1:c.2522C>G, XM_005246241.2:c.2351C>G, XM_005246241.1:c.2351C>G, XM_005246240.2:c.2351C>G, XM_005246240.1:c.2351C>G, XM_047442891.1:c.4928C>G, XM_047442892.1:c.4751C>G, XM_047442893.1:c.4745C>G, XM_047442894.1:c.4721C>G, XM_047442895.1:c.4538C>G, XM_047442898.1:c.2522C>G, XM_047442896.1:c.4439C>G, XM_047442897.1:c.4409C>G, XM_047442900.1:c.2522C>G, XM_047442901.1:c.4928C>G, NP_005867.3:p.Pro1633Arg, XP_005246299.1:p.Pro846Arg, XP_006712252.1:p.Pro1529Arg, XP_006712256.1:p.Pro784Arg, XP_011508781.1:p.Pro1643Arg, XP_005246294.1:p.Pro1539Arg, XP_005246296.1:p.Pro841Arg, XP_016858648.2:p.Pro1643Arg, XP_005246298.1:p.Pro784Arg, XP_005246297.1:p.Pro784Arg, XP_047298847.1:p.Pro1643Arg, XP_047298848.1:p.Pro1584Arg, XP_047298849.1:p.Pro1582Arg, XP_047298850.1:p.Pro1574Arg, XP_047298851.1:p.Pro1513Arg, XP_047298854.1:p.Pro841Arg, XP_047298852.1:p.Pro1480Arg, XP_047298853.1:p.Pro1470Arg, XP_047298856.1:p.Pro841Arg, XP_047298857.1:p.Pro1643Arg

              7.

              rs1489061400 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                2:219490547 (GRCh38)
                2:220355269 (GRCh37)
                Canonical SPDI:
                NC_000002.12:219490546:G:A
                Gene:
                SPEG (Varview), ASIC4-AS1 (Varview)
                Functional Consequence:
                intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                Validated:
                by frequency
                MAF:
                A=0.000004/1 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.219490547G>A, NC_000002.11:g.220355269G>A, NG_051022.1:g.61333G>A, NM_005876.5:c.9060G>A, NM_005876.4:c.9060G>A, XM_005246242.5:c.6699G>A, XM_005246242.4:c.6699G>A, XM_005246242.3:c.6699G>A, XM_005246242.2:c.6699G>A, XM_005246242.1:c.6699G>A, XM_006712189.4:c.8748G>A, XM_006712189.3:c.8748G>A, XM_006712189.2:c.8748G>A, XM_006712189.1:c.8748G>A, XM_006712193.4:c.6513G>A, XM_006712193.3:c.6513G>A, XM_006712193.2:c.6513G>A, XM_006712193.1:c.6513G>A, XM_011510479.3:c.9090G>A, XM_011510479.2:c.9090G>A, XM_011510479.1:c.9090G>A, XM_005246237.3:c.8778G>A, XM_005246237.2:c.8778G>A, XM_005246237.1:c.8778G>A, XM_005246239.3:c.6684G>A, XM_005246239.2:c.6684G>A, XM_005246239.1:c.6684G>A, XM_005246241.2:c.6513G>A, XM_005246241.1:c.6513G>A, XM_005246240.2:c.6513G>A, XM_005246240.1:c.6513G>A, XM_047442891.1:c.9090G>A, XM_047442892.1:c.8913G>A, XM_047442893.1:c.8907G>A, XM_047442894.1:c.8883G>A, XM_047442895.1:c.8700G>A, XM_047442898.1:c.6684G>A, XM_047442896.1:c.8601G>A, XM_047442897.1:c.8571G>A, XM_047442900.1:c.6684G>A

                8.

                rs1489005224 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  2:219451695 (GRCh38)
                  2:220316417 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:219451694:G:A
                  Gene:
                  SPEG (Varview)
                  Functional Consequence:
                  intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
                  HGVS:
                  NC_000002.12:g.219451695G>A, NC_000002.11:g.220316417G>A, NG_051022.1:g.22481G>A, NM_005876.5:c.2328G>A, NM_005876.4:c.2328G>A, XM_006712189.4:c.2016G>A, XM_006712189.3:c.2016G>A, XM_006712189.2:c.2016G>A, XM_006712189.1:c.2016G>A, XM_011510479.3:c.2358G>A, XM_011510479.2:c.2358G>A, XM_011510479.1:c.2358G>A, XM_005246237.3:c.2046G>A, XM_005246237.2:c.2046G>A, XM_005246237.1:c.2046G>A, XM_005246239.3:c.-49G>A, XM_005246239.2:c.-49G>A, XM_005246239.1:c.-49G>A, XM_017003159.3:c.2358G>A, XM_017003159.2:c.-49G>A, XM_017003159.1:c.-49G>A, XM_017003162.3:c.2358G>A, XM_017003162.2:c.-49G>A, XM_017003162.1:c.-49G>A, XM_017003161.3:c.2358G>A, XM_017003161.2:c.-49G>A, XM_017003161.1:c.-49G>A, XM_047442891.1:c.2358G>A, XM_047442892.1:c.2181G>A, XM_047442894.1:c.2151G>A, XM_047442898.1:c.-49G>A, XM_047442896.1:c.1869G>A, XM_047442897.1:c.1839G>A, XM_047442900.1:c.-49G>A, XM_047442901.1:c.2358G>A, XM_047442902.1:c.2181G>A, XM_047442903.1:c.2151G>A, XM_047442917.1:c.-49G>A, XM_047442904.1:c.2046G>A, XM_047442905.1:c.2016G>A, XM_047442918.1:c.-49G>A, XM_047442919.1:c.-49G>A, XM_047442907.1:c.1869G>A, XM_047442909.1:c.1839G>A, XM_047442920.1:c.-49G>A, XM_047442911.1:c.1782G>A

                  9.

                  rs1488905771 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    2:219484664 (GRCh38)
                    2:220349386 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:219484663:G:A
                    Gene:
                    SPEG (Varview), ASIC4-AS1 (Varview)
                    Functional Consequence:
                    intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                    HGVS:
                    NC_000002.12:g.219484664G>A, NC_000002.11:g.220349386G>A, NG_051022.1:g.55450G>A, NM_005876.5:c.7201G>A, NM_005876.4:c.7201G>A, XM_005246242.5:c.4840G>A, XM_005246242.4:c.4840G>A, XM_005246242.3:c.4840G>A, XM_005246242.2:c.4840G>A, XM_005246242.1:c.4840G>A, XM_006712189.4:c.6889G>A, XM_006712189.3:c.6889G>A, XM_006712189.2:c.6889G>A, XM_006712189.1:c.6889G>A, XM_006712193.4:c.4654G>A, XM_006712193.3:c.4654G>A, XM_006712193.2:c.4654G>A, XM_006712193.1:c.4654G>A, XM_011510479.3:c.7231G>A, XM_011510479.2:c.7231G>A, XM_011510479.1:c.7231G>A, XM_005246237.3:c.6919G>A, XM_005246237.2:c.6919G>A, XM_005246237.1:c.6919G>A, XM_005246239.3:c.4825G>A, XM_005246239.2:c.4825G>A, XM_005246239.1:c.4825G>A, XM_017003159.3:c.7231G>A, XM_017003159.2:c.4825G>A, XM_017003159.1:c.4825G>A, XM_005246241.2:c.4654G>A, XM_005246241.1:c.4654G>A, XM_005246240.2:c.4654G>A, XM_005246240.1:c.4654G>A, XM_047442891.1:c.7231G>A, XM_047442892.1:c.7054G>A, XM_047442893.1:c.7048G>A, XM_047442894.1:c.7024G>A, XM_047442895.1:c.6841G>A, XM_047442898.1:c.4825G>A, XM_047442896.1:c.6742G>A, XM_047442897.1:c.6712G>A, XM_047442900.1:c.4825G>A, NP_005867.3:p.Gly2401Arg, XP_005246299.1:p.Gly1614Arg, XP_006712252.1:p.Gly2297Arg, XP_006712256.1:p.Gly1552Arg, XP_011508781.1:p.Gly2411Arg, XP_005246294.1:p.Gly2307Arg, XP_005246296.1:p.Gly1609Arg, XP_016858648.2:p.Gly2411Arg, XP_005246298.1:p.Gly1552Arg, XP_005246297.1:p.Gly1552Arg, XP_047298847.1:p.Gly2411Arg, XP_047298848.1:p.Gly2352Arg, XP_047298849.1:p.Gly2350Arg, XP_047298850.1:p.Gly2342Arg, XP_047298851.1:p.Gly2281Arg, XP_047298854.1:p.Gly1609Arg, XP_047298852.1:p.Gly2248Arg, XP_047298853.1:p.Gly2238Arg, XP_047298856.1:p.Gly1609Arg

                    10.

                    rs1488662916 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      2:219449004 (GRCh38)
                      2:220313726 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:219449003:G:A
                      Gene:
                      SPEG (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      A=0./0 (ALFA)
                      A=0.000008/2 (TOPMED)
                      HGVS:
                      NC_000002.12:g.219449004G>A, NC_000002.11:g.220313726G>A, NG_051022.1:g.19790G>A, NM_005876.5:c.1846G>A, NM_005876.4:c.1846G>A, XM_006712189.4:c.1534G>A, XM_006712189.3:c.1534G>A, XM_006712189.2:c.1534G>A, XM_006712189.1:c.1534G>A, XM_011510479.3:c.1876G>A, XM_011510479.2:c.1876G>A, XM_011510479.1:c.1876G>A, XM_005246237.3:c.1564G>A, XM_005246237.2:c.1564G>A, XM_005246237.1:c.1564G>A, XM_005246239.3:c.-531G>A, XM_005246239.2:c.-531G>A, XM_005246239.1:c.-531G>A, XM_017003159.3:c.1876G>A, XM_017003159.2:c.-531G>A, XM_017003159.1:c.-531G>A, XM_017003162.3:c.1876G>A, XM_017003162.2:c.-531G>A, XM_017003162.1:c.-531G>A, XM_017003161.3:c.1876G>A, XM_017003161.2:c.-531G>A, XM_017003161.1:c.-531G>A, XM_024452526.2:c.1876G>A, XM_024452526.1:c.-519G>A, XM_047442891.1:c.1876G>A, XM_047442892.1:c.1699G>A, XM_047442893.1:c.1876G>A, XM_047442894.1:c.1669G>A, XM_047442895.1:c.1669G>A, XM_047442898.1:c.-531G>A, XM_047442896.1:c.1387G>A, XM_047442897.1:c.1357G>A, XM_047442900.1:c.-571G>A, XM_047442901.1:c.1876G>A, XM_047442902.1:c.1699G>A, XM_047442903.1:c.1669G>A, XM_047442906.1:c.1699G>A, XM_047442917.1:c.-531G>A, XM_047442904.1:c.1564G>A, XM_047442905.1:c.1534G>A, XM_047442918.1:c.-531G>A, XM_047442919.1:c.-531G>A, XM_047442907.1:c.1387G>A, XM_047442908.1:c.1564G>A, XM_047442909.1:c.1357G>A, XM_047442920.1:c.-531G>A, XM_047442921.1:c.-519G>A, XM_047442910.1:c.1507G>A, XM_047442911.1:c.1300G>A, XM_047442922.1:c.-519G>A, XM_047442912.1:c.1387G>A, XM_047442914.1:c.1357G>A, XM_047442923.1:c.-519G>A, NP_005867.3:p.Ala616Thr, XP_006712252.1:p.Ala512Thr, XP_011508781.1:p.Ala626Thr, XP_005246294.1:p.Ala522Thr, XP_016858648.2:p.Ala626Thr, XP_016858651.2:p.Ala626Thr, XP_016858650.2:p.Ala626Thr, XP_024308294.2:p.Ala626Thr, XP_047298847.1:p.Ala626Thr, XP_047298848.1:p.Ala567Thr, XP_047298849.1:p.Ala626Thr, XP_047298850.1:p.Ala557Thr, XP_047298851.1:p.Ala557Thr, XP_047298852.1:p.Ala463Thr, XP_047298853.1:p.Ala453Thr, XP_047298857.1:p.Ala626Thr, XP_047298858.1:p.Ala567Thr, XP_047298859.1:p.Ala557Thr, XP_047298862.1:p.Ala567Thr, XP_047298860.1:p.Ala522Thr, XP_047298861.1:p.Ala512Thr, XP_047298863.1:p.Ala463Thr, XP_047298864.1:p.Ala522Thr, XP_047298865.1:p.Ala453Thr, XP_047298866.1:p.Ala503Thr, XP_047298867.1:p.Ala434Thr, XP_047298868.1:p.Ala463Thr, XP_047298870.1:p.Ala453Thr

                      11.

                      rs1488588757 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:219479977 (GRCh38)
                        2:220344699 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:219479976:G:A
                        Gene:
                        SPEG (Varview)
                        Functional Consequence:
                        genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
                        Clinical significance:
                        uncertain-significance
                        Validated:
                        by frequency,by alfa
                        MAF:
                        A=0.000094/1 (ALFA)
                        A=0.000004/1 (GnomAD_exomes)
                        HGVS:
                        NC_000002.12:g.219479977G>A, NC_000002.11:g.220344699G>A, NG_051022.1:g.50763G>A, NM_005876.5:c.5179G>A, NM_005876.4:c.5179G>A, XM_005246242.5:c.2818G>A, XM_005246242.4:c.2818G>A, XM_005246242.3:c.2818G>A, XM_005246242.2:c.2818G>A, XM_005246242.1:c.2818G>A, XM_006712189.4:c.4867G>A, XM_006712189.3:c.4867G>A, XM_006712189.2:c.4867G>A, XM_006712189.1:c.4867G>A, XM_006712193.4:c.2632G>A, XM_006712193.3:c.2632G>A, XM_006712193.2:c.2632G>A, XM_006712193.1:c.2632G>A, XM_011510479.3:c.5209G>A, XM_011510479.2:c.5209G>A, XM_011510479.1:c.5209G>A, XM_005246237.3:c.4897G>A, XM_005246237.2:c.4897G>A, XM_005246237.1:c.4897G>A, XM_005246239.3:c.2803G>A, XM_005246239.2:c.2803G>A, XM_005246239.1:c.2803G>A, XM_017003159.3:c.5209G>A, XM_017003159.2:c.2803G>A, XM_017003159.1:c.2803G>A, XM_005246241.2:c.2632G>A, XM_005246241.1:c.2632G>A, XM_005246240.2:c.2632G>A, XM_005246240.1:c.2632G>A, XM_047442891.1:c.5209G>A, XM_047442892.1:c.5032G>A, XM_047442893.1:c.5026G>A, XM_047442894.1:c.5002G>A, XM_047442895.1:c.4819G>A, XM_047442898.1:c.2803G>A, XM_047442896.1:c.4720G>A, XM_047442897.1:c.4690G>A, XM_047442900.1:c.2803G>A, XM_047442901.1:c.*11G>A, NP_005867.3:p.Val1727Met, XP_005246299.1:p.Val940Met, XP_006712252.1:p.Val1623Met, XP_006712256.1:p.Val878Met, XP_011508781.1:p.Val1737Met, XP_005246294.1:p.Val1633Met, XP_005246296.1:p.Val935Met, XP_016858648.2:p.Val1737Met, XP_005246298.1:p.Val878Met, XP_005246297.1:p.Val878Met, XP_047298847.1:p.Val1737Met, XP_047298848.1:p.Val1678Met, XP_047298849.1:p.Val1676Met, XP_047298850.1:p.Val1668Met, XP_047298851.1:p.Val1607Met, XP_047298854.1:p.Val935Met, XP_047298852.1:p.Val1574Met, XP_047298853.1:p.Val1564Met, XP_047298856.1:p.Val935Met

                        12.

                        rs1488539885 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          2:219489515 (GRCh38)
                          2:220354237 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:219489514:T:C
                          Gene:
                          SPEG (Varview), ASIC4-AS1 (Varview)
                          Functional Consequence:
                          intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000004/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.219489515T>C, NC_000002.11:g.220354237T>C, NG_051022.1:g.60301T>C, NM_005876.5:c.8497T>C, NM_005876.4:c.8497T>C, XM_005246242.5:c.6136T>C, XM_005246242.4:c.6136T>C, XM_005246242.3:c.6136T>C, XM_005246242.2:c.6136T>C, XM_005246242.1:c.6136T>C, XM_006712189.4:c.8185T>C, XM_006712189.3:c.8185T>C, XM_006712189.2:c.8185T>C, XM_006712189.1:c.8185T>C, XM_006712193.4:c.5950T>C, XM_006712193.3:c.5950T>C, XM_006712193.2:c.5950T>C, XM_006712193.1:c.5950T>C, XM_011510479.3:c.8527T>C, XM_011510479.2:c.8527T>C, XM_011510479.1:c.8527T>C, XM_005246237.3:c.8215T>C, XM_005246237.2:c.8215T>C, XM_005246237.1:c.8215T>C, XM_005246239.3:c.6121T>C, XM_005246239.2:c.6121T>C, XM_005246239.1:c.6121T>C, XM_005246241.2:c.5950T>C, XM_005246241.1:c.5950T>C, XM_005246240.2:c.5950T>C, XM_005246240.1:c.5950T>C, XM_047442891.1:c.8527T>C, XM_047442892.1:c.8350T>C, XM_047442893.1:c.8344T>C, XM_047442894.1:c.8320T>C, XM_047442895.1:c.8137T>C, XM_047442898.1:c.6121T>C, XM_047442896.1:c.8038T>C, XM_047442897.1:c.8008T>C, XM_047442900.1:c.6121T>C, NP_005867.3:p.Ser2833Pro, XP_005246299.1:p.Ser2046Pro, XP_006712252.1:p.Ser2729Pro, XP_006712256.1:p.Ser1984Pro, XP_011508781.1:p.Ser2843Pro, XP_005246294.1:p.Ser2739Pro, XP_005246296.1:p.Ser2041Pro, XP_005246298.1:p.Ser1984Pro, XP_005246297.1:p.Ser1984Pro, XP_047298847.1:p.Ser2843Pro, XP_047298848.1:p.Ser2784Pro, XP_047298849.1:p.Ser2782Pro, XP_047298850.1:p.Ser2774Pro, XP_047298851.1:p.Ser2713Pro, XP_047298854.1:p.Ser2041Pro, XP_047298852.1:p.Ser2680Pro, XP_047298853.1:p.Ser2670Pro, XP_047298856.1:p.Ser2041Pro

                          13.

                          rs1488309733 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>C [Show Flanks]
                            Chromosome:
                            2:219484598 (GRCh38)
                            2:220349320 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:219484597:G:C
                            Gene:
                            SPEG (Varview), ASIC4-AS1 (Varview)
                            Functional Consequence:
                            intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                            HGVS:
                            NC_000002.12:g.219484598G>C, NC_000002.11:g.220349320G>C, NG_051022.1:g.55384G>C, NM_005876.5:c.7135G>C, NM_005876.4:c.7135G>C, XM_005246242.5:c.4774G>C, XM_005246242.4:c.4774G>C, XM_005246242.3:c.4774G>C, XM_005246242.2:c.4774G>C, XM_005246242.1:c.4774G>C, XM_006712189.4:c.6823G>C, XM_006712189.3:c.6823G>C, XM_006712189.2:c.6823G>C, XM_006712189.1:c.6823G>C, XM_006712193.4:c.4588G>C, XM_006712193.3:c.4588G>C, XM_006712193.2:c.4588G>C, XM_006712193.1:c.4588G>C, XM_011510479.3:c.7165G>C, XM_011510479.2:c.7165G>C, XM_011510479.1:c.7165G>C, XM_005246237.3:c.6853G>C, XM_005246237.2:c.6853G>C, XM_005246237.1:c.6853G>C, XM_005246239.3:c.4759G>C, XM_005246239.2:c.4759G>C, XM_005246239.1:c.4759G>C, XM_017003159.3:c.7165G>C, XM_017003159.2:c.4759G>C, XM_017003159.1:c.4759G>C, XM_005246241.2:c.4588G>C, XM_005246241.1:c.4588G>C, XM_005246240.2:c.4588G>C, XM_005246240.1:c.4588G>C, XM_047442891.1:c.7165G>C, XM_047442892.1:c.6988G>C, XM_047442893.1:c.6982G>C, XM_047442894.1:c.6958G>C, XM_047442895.1:c.6775G>C, XM_047442898.1:c.4759G>C, XM_047442896.1:c.6676G>C, XM_047442897.1:c.6646G>C, XM_047442900.1:c.4759G>C, NP_005867.3:p.Gly2379Arg, XP_005246299.1:p.Gly1592Arg, XP_006712252.1:p.Gly2275Arg, XP_006712256.1:p.Gly1530Arg, XP_011508781.1:p.Gly2389Arg, XP_005246294.1:p.Gly2285Arg, XP_005246296.1:p.Gly1587Arg, XP_016858648.2:p.Gly2389Arg, XP_005246298.1:p.Gly1530Arg, XP_005246297.1:p.Gly1530Arg, XP_047298847.1:p.Gly2389Arg, XP_047298848.1:p.Gly2330Arg, XP_047298849.1:p.Gly2328Arg, XP_047298850.1:p.Gly2320Arg, XP_047298851.1:p.Gly2259Arg, XP_047298854.1:p.Gly1587Arg, XP_047298852.1:p.Gly2226Arg, XP_047298853.1:p.Gly2216Arg, XP_047298856.1:p.Gly1587Arg

                            14.

                            rs1488187281 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              A>G [Show Flanks]
                              Chromosome:
                              2:219444878 (GRCh38)
                              2:220309600 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:219444877:A:G
                              Gene:
                              SPEG (Varview)
                              Functional Consequence:
                              intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant
                              Validated:
                              by frequency
                              MAF:
                              G=0.000005/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.219444878A>G, NC_000002.11:g.220309600A>G, NG_051022.1:g.15664A>G, NM_005876.5:c.532A>G, NM_005876.4:c.532A>G, XM_006712189.4:c.220A>G, XM_006712189.3:c.220A>G, XM_006712189.2:c.220A>G, XM_006712189.1:c.220A>G, XM_011510479.3:c.562A>G, XM_011510479.2:c.562A>G, XM_011510479.1:c.562A>G, XM_005246237.3:c.250A>G, XM_005246237.2:c.250A>G, XM_005246237.1:c.250A>G, XM_005246239.3:c.-1668A>G, XM_005246239.2:c.-1668A>G, XM_005246239.1:c.-1668A>G, XM_017003159.3:c.562A>G, XM_017003159.1:c.-1845A>G, XM_017003162.3:c.562A>G, XM_017003162.1:c.-1845A>G, XM_017003161.3:c.562A>G, XM_017003161.1:c.-1845A>G, XM_024452526.2:c.562A>G, XM_047442891.1:c.562A>G, XM_047442892.1:c.562A>G, XM_047442893.1:c.562A>G, XM_047442894.1:c.532A>G, XM_047442895.1:c.532A>G, XM_047442896.1:c.250A>G, XM_047442897.1:c.220A>G, XM_047442901.1:c.562A>G, XM_047442902.1:c.562A>G, XM_047442903.1:c.532A>G, XM_047442906.1:c.562A>G, XM_047442917.1:c.-1845A>G, XM_047442904.1:c.250A>G, XM_047442905.1:c.220A>G, XM_047442919.1:c.-1668A>G, XM_047442907.1:c.250A>G, XM_047442908.1:c.250A>G, XM_047442909.1:c.220A>G, XM_047442922.1:c.-1656A>G, XM_047442912.1:c.250A>G, XM_047442914.1:c.220A>G, NP_005867.3:p.Thr178Ala, XP_006712252.1:p.Thr74Ala, XP_011508781.1:p.Thr188Ala, XP_005246294.1:p.Thr84Ala, XP_016858648.2:p.Thr188Ala, XP_016858651.2:p.Thr188Ala, XP_016858650.2:p.Thr188Ala, XP_024308294.2:p.Thr188Ala, XP_047298847.1:p.Thr188Ala, XP_047298848.1:p.Thr188Ala, XP_047298849.1:p.Thr188Ala, XP_047298850.1:p.Thr178Ala, XP_047298851.1:p.Thr178Ala, XP_047298852.1:p.Thr84Ala, XP_047298853.1:p.Thr74Ala, XP_047298857.1:p.Thr188Ala, XP_047298858.1:p.Thr188Ala, XP_047298859.1:p.Thr178Ala, XP_047298862.1:p.Thr188Ala, XP_047298860.1:p.Thr84Ala, XP_047298861.1:p.Thr74Ala, XP_047298863.1:p.Thr84Ala, XP_047298864.1:p.Thr84Ala, XP_047298865.1:p.Thr74Ala, XP_047298868.1:p.Thr84Ala, XP_047298870.1:p.Thr74Ala

                              15.

                              rs1488065200 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                2:219435103 (GRCh38)
                                2:220299825 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:219435102:G:A
                                Gene:
                                SPEG (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000007/1 (GnomAD)
                                HGVS:

                                16.

                                rs1487970627 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  T>G [Show Flanks]
                                  Chromosome:
                                  2:219489874 (GRCh38)
                                  2:220354596 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:219489873:T:G
                                  Gene:
                                  SPEG (Varview), ASIC4-AS1 (Varview)
                                  Functional Consequence:
                                  intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  G=0./0 (ALFA)
                                  G=0.000004/1 (GnomAD_exomes)
                                  G=0.000023/6 (TOPMED)
                                  G=0.000043/6 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.219489874T>G, NC_000002.11:g.220354596T>G, NG_051022.1:g.60660T>G, NM_005876.5:c.8856T>G, NM_005876.4:c.8856T>G, XM_005246242.5:c.6495T>G, XM_005246242.4:c.6495T>G, XM_005246242.3:c.6495T>G, XM_005246242.2:c.6495T>G, XM_005246242.1:c.6495T>G, XM_006712189.4:c.8544T>G, XM_006712189.3:c.8544T>G, XM_006712189.2:c.8544T>G, XM_006712189.1:c.8544T>G, XM_006712193.4:c.6309T>G, XM_006712193.3:c.6309T>G, XM_006712193.2:c.6309T>G, XM_006712193.1:c.6309T>G, XM_011510479.3:c.8886T>G, XM_011510479.2:c.8886T>G, XM_011510479.1:c.8886T>G, XM_005246237.3:c.8574T>G, XM_005246237.2:c.8574T>G, XM_005246237.1:c.8574T>G, XM_005246239.3:c.6480T>G, XM_005246239.2:c.6480T>G, XM_005246239.1:c.6480T>G, XM_005246241.2:c.6309T>G, XM_005246241.1:c.6309T>G, XM_005246240.2:c.6309T>G, XM_005246240.1:c.6309T>G, XM_047442891.1:c.8886T>G, XM_047442892.1:c.8709T>G, XM_047442893.1:c.8703T>G, XM_047442894.1:c.8679T>G, XM_047442895.1:c.8496T>G, XM_047442898.1:c.6480T>G, XM_047442896.1:c.8397T>G, XM_047442897.1:c.8367T>G, XM_047442900.1:c.6480T>G

                                  17.

                                  rs1487886603 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    2:219483484 (GRCh38)
                                    2:220348206 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:219483483:G:A
                                    Gene:
                                    SPEG (Varview), ASIC4-AS1 (Varview)
                                    Functional Consequence:
                                    intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.00002/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000002.12:g.219483484G>A, NC_000002.11:g.220348206G>A, NG_051022.1:g.54270G>A, NM_005876.5:c.6021G>A, NM_005876.4:c.6021G>A, XM_005246242.5:c.3660G>A, XM_005246242.4:c.3660G>A, XM_005246242.3:c.3660G>A, XM_005246242.2:c.3660G>A, XM_005246242.1:c.3660G>A, XM_006712189.4:c.5709G>A, XM_006712189.3:c.5709G>A, XM_006712189.2:c.5709G>A, XM_006712189.1:c.5709G>A, XM_006712193.4:c.3474G>A, XM_006712193.3:c.3474G>A, XM_006712193.2:c.3474G>A, XM_006712193.1:c.3474G>A, XM_011510479.3:c.6051G>A, XM_011510479.2:c.6051G>A, XM_011510479.1:c.6051G>A, XM_005246237.3:c.5739G>A, XM_005246237.2:c.5739G>A, XM_005246237.1:c.5739G>A, XM_005246239.3:c.3645G>A, XM_005246239.2:c.3645G>A, XM_005246239.1:c.3645G>A, XM_017003159.3:c.6051G>A, XM_017003159.2:c.3645G>A, XM_017003159.1:c.3645G>A, XM_005246241.2:c.3474G>A, XM_005246241.1:c.3474G>A, XM_005246240.2:c.3474G>A, XM_005246240.1:c.3474G>A, XM_047442891.1:c.6051G>A, XM_047442892.1:c.5874G>A, XM_047442893.1:c.5868G>A, XM_047442894.1:c.5844G>A, XM_047442895.1:c.5661G>A, XM_047442898.1:c.3645G>A, XM_047442896.1:c.5562G>A, XM_047442897.1:c.5532G>A, XM_047442900.1:c.3645G>A

                                    18.

                                    rs1487121395 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      2:219483599 (GRCh38)
                                      2:220348321 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:219483598:C:T
                                      Gene:
                                      SPEG (Varview), ASIC4-AS1 (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0./0 (ALFA)
                                      HGVS:
                                      NC_000002.12:g.219483599C>T, NC_000002.11:g.220348321C>T, NG_051022.1:g.54385C>T, NM_005876.5:c.6136C>T, NM_005876.4:c.6136C>T, XM_005246242.5:c.3775C>T, XM_005246242.4:c.3775C>T, XM_005246242.3:c.3775C>T, XM_005246242.2:c.3775C>T, XM_005246242.1:c.3775C>T, XM_006712189.4:c.5824C>T, XM_006712189.3:c.5824C>T, XM_006712189.2:c.5824C>T, XM_006712189.1:c.5824C>T, XM_006712193.4:c.3589C>T, XM_006712193.3:c.3589C>T, XM_006712193.2:c.3589C>T, XM_006712193.1:c.3589C>T, XM_011510479.3:c.6166C>T, XM_011510479.2:c.6166C>T, XM_011510479.1:c.6166C>T, XM_005246237.3:c.5854C>T, XM_005246237.2:c.5854C>T, XM_005246237.1:c.5854C>T, XM_005246239.3:c.3760C>T, XM_005246239.2:c.3760C>T, XM_005246239.1:c.3760C>T, XM_017003159.3:c.6166C>T, XM_017003159.2:c.3760C>T, XM_017003159.1:c.3760C>T, XM_005246241.2:c.3589C>T, XM_005246241.1:c.3589C>T, XM_005246240.2:c.3589C>T, XM_005246240.1:c.3589C>T, XM_047442891.1:c.6166C>T, XM_047442892.1:c.5989C>T, XM_047442893.1:c.5983C>T, XM_047442894.1:c.5959C>T, XM_047442895.1:c.5776C>T, XM_047442898.1:c.3760C>T, XM_047442896.1:c.5677C>T, XM_047442897.1:c.5647C>T, XM_047442900.1:c.3760C>T, NP_005867.3:p.Pro2046Ser, XP_005246299.1:p.Pro1259Ser, XP_006712252.1:p.Pro1942Ser, XP_006712256.1:p.Pro1197Ser, XP_011508781.1:p.Pro2056Ser, XP_005246294.1:p.Pro1952Ser, XP_005246296.1:p.Pro1254Ser, XP_016858648.2:p.Pro2056Ser, XP_005246298.1:p.Pro1197Ser, XP_005246297.1:p.Pro1197Ser, XP_047298847.1:p.Pro2056Ser, XP_047298848.1:p.Pro1997Ser, XP_047298849.1:p.Pro1995Ser, XP_047298850.1:p.Pro1987Ser, XP_047298851.1:p.Pro1926Ser, XP_047298854.1:p.Pro1254Ser, XP_047298852.1:p.Pro1893Ser, XP_047298853.1:p.Pro1883Ser, XP_047298856.1:p.Pro1254Ser

                                      19.

                                      rs1486719595 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>G [Show Flanks]
                                        Chromosome:
                                        2:219472230 (GRCh38)
                                        2:220336952 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:219472229:T:G
                                        Gene:
                                        SPEG (Varview)
                                        Functional Consequence:
                                        genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        G=0.000004/1 (TOPMED)
                                        G=0.000007/1 (GnomAD)
                                        HGVS:
                                        NC_000002.12:g.219472230T>G, NC_000002.11:g.220336952T>G, NG_051022.1:g.43016T>G, NM_005876.5:c.3839T>G, NM_005876.4:c.3839T>G, XM_005246242.5:c.1478T>G, XM_005246242.4:c.1478T>G, XM_005246242.3:c.1478T>G, XM_005246242.2:c.1478T>G, XM_005246242.1:c.1478T>G, XM_006712189.4:c.3527T>G, XM_006712189.3:c.3527T>G, XM_006712189.2:c.3527T>G, XM_006712189.1:c.3527T>G, XM_006712193.4:c.1292T>G, XM_006712193.3:c.1292T>G, XM_006712193.2:c.1292T>G, XM_006712193.1:c.1292T>G, XM_011510479.3:c.3869T>G, XM_011510479.2:c.3869T>G, XM_011510479.1:c.3869T>G, XM_005246237.3:c.3557T>G, XM_005246237.2:c.3557T>G, XM_005246237.1:c.3557T>G, XM_005246239.3:c.1463T>G, XM_005246239.2:c.1463T>G, XM_005246239.1:c.1463T>G, XM_017003159.3:c.3869T>G, XM_017003159.2:c.1463T>G, XM_017003159.1:c.1463T>G, XM_005246241.2:c.1292T>G, XM_005246241.1:c.1292T>G, XM_005246240.2:c.1292T>G, XM_005246240.1:c.1292T>G, XM_047442891.1:c.3869T>G, XM_047442892.1:c.3692T>G, XM_047442893.1:c.3686T>G, XM_047442894.1:c.3662T>G, XM_047442895.1:c.3479T>G, XM_047442898.1:c.1463T>G, XM_047442896.1:c.3380T>G, XM_047442897.1:c.3350T>G, XM_047442900.1:c.1463T>G, XM_047442901.1:c.3869T>G, NP_005867.3:p.Val1280Gly, XP_005246299.1:p.Val493Gly, XP_006712252.1:p.Val1176Gly, XP_006712256.1:p.Val431Gly, XP_011508781.1:p.Val1290Gly, XP_005246294.1:p.Val1186Gly, XP_005246296.1:p.Val488Gly, XP_016858648.2:p.Val1290Gly, XP_005246298.1:p.Val431Gly, XP_005246297.1:p.Val431Gly, XP_047298847.1:p.Val1290Gly, XP_047298848.1:p.Val1231Gly, XP_047298849.1:p.Val1229Gly, XP_047298850.1:p.Val1221Gly, XP_047298851.1:p.Val1160Gly, XP_047298854.1:p.Val488Gly, XP_047298852.1:p.Val1127Gly, XP_047298853.1:p.Val1117Gly, XP_047298856.1:p.Val488Gly, XP_047298857.1:p.Val1290Gly

                                        20.

                                        rs1486615948 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>A [Show Flanks]
                                          Chromosome:
                                          2:219448242 (GRCh38)
                                          2:220312964 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:219448241:G:A
                                          Gene:
                                          SPEG (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          A=0./0 (ALFA)
                                          A=0.000007/1 (GnomAD)
                                          HGVS:
                                          NC_000002.12:g.219448242G>A, NC_000002.11:g.220312964G>A, NG_051022.1:g.19028G>A, NM_005876.5:c.1084G>A, NM_005876.4:c.1084G>A, XM_006712189.4:c.772G>A, XM_006712189.3:c.772G>A, XM_006712189.2:c.772G>A, XM_006712189.1:c.772G>A, XM_011510479.3:c.1114G>A, XM_011510479.2:c.1114G>A, XM_011510479.1:c.1114G>A, XM_005246237.3:c.802G>A, XM_005246237.2:c.802G>A, XM_005246237.1:c.802G>A, XM_005246239.3:c.-1293G>A, XM_005246239.2:c.-1293G>A, XM_005246239.1:c.-1293G>A, XM_017003159.3:c.1114G>A, XM_017003159.2:c.-1293G>A, XM_017003159.1:c.-1293G>A, XM_017003162.3:c.1114G>A, XM_017003162.2:c.-1293G>A, XM_017003162.1:c.-1293G>A, XM_017003161.3:c.1114G>A, XM_017003161.2:c.-1293G>A, XM_017003161.1:c.-1293G>A, XM_024452526.2:c.1114G>A, XM_024452526.1:c.-1281G>A, XM_047442891.1:c.1114G>A, XM_047442892.1:c.937G>A, XM_047442893.1:c.1114G>A, XM_047442894.1:c.907G>A, XM_047442895.1:c.907G>A, XM_047442898.1:c.-1293G>A, XM_047442896.1:c.625G>A, XM_047442897.1:c.595G>A, XM_047442901.1:c.1114G>A, XM_047442902.1:c.937G>A, XM_047442903.1:c.907G>A, XM_047442906.1:c.937G>A, XM_047442917.1:c.-1293G>A, XM_047442904.1:c.802G>A, XM_047442905.1:c.772G>A, XM_047442918.1:c.-1293G>A, XM_047442919.1:c.-1293G>A, XM_047442907.1:c.625G>A, XM_047442908.1:c.802G>A, XM_047442909.1:c.595G>A, XM_047442920.1:c.-1293G>A, XM_047442921.1:c.-1281G>A, XM_047442910.1:c.745G>A, XM_047442911.1:c.538G>A, XM_047442922.1:c.-1281G>A, XM_047442912.1:c.625G>A, XM_047442914.1:c.595G>A, XM_047442923.1:c.-1281G>A, NP_005867.3:p.Gly362Arg, XP_006712252.1:p.Gly258Arg, XP_011508781.1:p.Gly372Arg, XP_005246294.1:p.Gly268Arg, XP_016858648.2:p.Gly372Arg, XP_016858651.2:p.Gly372Arg, XP_016858650.2:p.Gly372Arg, XP_024308294.2:p.Gly372Arg, XP_047298847.1:p.Gly372Arg, XP_047298848.1:p.Gly313Arg, XP_047298849.1:p.Gly372Arg, XP_047298850.1:p.Gly303Arg, XP_047298851.1:p.Gly303Arg, XP_047298852.1:p.Gly209Arg, XP_047298853.1:p.Gly199Arg, XP_047298857.1:p.Gly372Arg, XP_047298858.1:p.Gly313Arg, XP_047298859.1:p.Gly303Arg, XP_047298862.1:p.Gly313Arg, XP_047298860.1:p.Gly268Arg, XP_047298861.1:p.Gly258Arg, XP_047298863.1:p.Gly209Arg, XP_047298864.1:p.Gly268Arg, XP_047298865.1:p.Gly199Arg, XP_047298866.1:p.Gly249Arg, XP_047298867.1:p.Gly180Arg, XP_047298868.1:p.Gly209Arg, XP_047298870.1:p.Gly199Arg

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