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Items: 1 to 20 of 296

1.

rs1489555630 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A [Show Flanks]
    Chromosome:
    X:19588745 (GRCh38)
    X:19606863 (GRCh37)
    Canonical SPDI:
    NC_000023.11:19588744:G:A
    Gene:
    SH3KBP1 (Varview)
    Functional Consequence:
    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
    Validated:
    by frequency
    MAF:
    A=0.000006/1 (GnomAD_exomes)
    HGVS:
    NC_000023.11:g.19588745G>A, NC_000023.10:g.19606863G>A, NG_021367.1:g.303882C>T, NM_031892.3:c.1196C>T, NM_031892.2:c.1196C>T, NM_001024666.3:c.1085C>T, NM_001024666.2:c.1085C>T, NM_001353891.2:c.1271C>T, NM_001353891.1:c.1271C>T, NM_001353892.2:c.1271C>T, NM_001353892.1:c.1271C>T, NM_001353890.2:c.1196C>T, NM_001353890.1:c.1196C>T, NM_001353893.2:c.1094C>T, NM_001353893.1:c.1094C>T, NM_001353895.2:c.1151C>T, NM_001353895.1:c.1151C>T, NM_001353894.2:c.1094C>T, NM_001353894.1:c.1094C>T, NM_001184960.2:c.482C>T, NM_001184960.1:c.482C>T, NM_001353897.2:c.482C>T, NM_001353897.1:c.482C>T, XM_011545498.4:c.1328C>T, XM_011545500.4:c.1328C>T, XM_011545499.4:c.1217C>T, XM_011545499.3:c.1217C>T, XM_011545499.2:c.1217C>T, XM_011545499.1:c.1217C>T, XM_011545502.3:c.533C>T, XM_011545502.2:c.533C>T, XM_011545502.1:c.533C>T, XM_017029467.3:c.1148C>T, XM_017029467.2:c.1148C>T, XM_017029467.1:c.1148C>T, XM_017029468.3:c.1073C>T, XM_017029468.2:c.1073C>T, XM_017029468.1:c.1073C>T, XM_017029460.2:c.1205C>T, XM_017029460.1:c.1205C>T, XM_017029461.2:c.1148C>T, XM_017029461.1:c.1148C>T, XM_017029469.2:c.413C>T, XM_017029469.1:c.413C>T, XM_047442050.1:c.533C>T, NM_001410756.1:c.1328C>T, NM_001410757.1:c.1328C>T, XM_047442039.1:c.1235C>T, XM_047442041.1:c.1151C>T, XM_047442042.1:c.1103C>T, XM_047442040.1:c.1151C>T, XM_047442043.1:c.1073C>T, XM_047442045.1:c.1019C>T, XM_047442046.1:c.1103C>T, XM_047442044.1:c.1019C>T, XM_047442048.1:c.1019C>T, XM_047442047.1:c.1085C>T, XM_047442049.1:c.1019C>T, NM_001410758.1:c.1019C>T, NP_114098.1:p.Pro399Leu, NP_001019837.1:p.Pro362Leu, NP_001340820.1:p.Pro424Leu, NP_001340821.1:p.Pro424Leu, NP_001340819.1:p.Pro399Leu, NP_001340822.1:p.Pro365Leu, NP_001340824.1:p.Pro384Leu, NP_001340823.1:p.Pro365Leu, NP_001171889.1:p.Pro161Leu, NP_001340826.1:p.Pro161Leu, XP_011543800.1:p.Pro443Leu, XP_011543802.1:p.Pro443Leu, XP_011543801.1:p.Pro406Leu, XP_011543804.1:p.Pro178Leu, XP_016884956.1:p.Pro383Leu, XP_016884957.1:p.Pro358Leu, XP_016884949.1:p.Pro402Leu, XP_016884950.1:p.Pro383Leu, XP_016884958.1:p.Pro138Leu, XP_047298006.1:p.Pro178Leu, XP_047297995.1:p.Pro412Leu, XP_047297997.1:p.Pro384Leu, XP_047297998.1:p.Pro368Leu, XP_047297996.1:p.Pro384Leu, XP_047297999.1:p.Pro358Leu, XP_047298001.1:p.Pro340Leu, XP_047298002.1:p.Pro368Leu, XP_047298000.1:p.Pro340Leu, XP_047298004.1:p.Pro340Leu, XP_047298003.1:p.Pro362Leu, XP_047298005.1:p.Pro340Leu

    2.

    rs1489147141 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      X:19536426 (GRCh38)
      X:19554544 (GRCh37)
      Canonical SPDI:
      NC_000023.11:19536425:T:C
      Gene:
      SH3KBP1 (Varview)
      Functional Consequence:
      coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0.00001/1 (GnomAD)
      C=0.000019/5 (TOPMED)
      HGVS:
      NC_000023.11:g.19536426T>C, NC_000023.10:g.19554544T>C, NG_021367.1:g.356201A>G, NM_031892.3:c.1989A>G, NM_031892.2:c.1989A>G, NM_001024666.3:c.1878A>G, NM_001024666.2:c.1878A>G, NM_001353891.2:c.2064A>G, NM_001353891.1:c.2064A>G, NM_001353892.2:c.1935A>G, NM_001353892.1:c.1935A>G, NM_001353890.2:c.1860A>G, NM_001353890.1:c.1860A>G, NM_001353893.2:c.1887A>G, NM_001353893.1:c.1887A>G, NM_001353895.2:c.1815A>G, NM_001353895.1:c.1815A>G, NM_001353894.2:c.1758A>G, NM_001353894.1:c.1758A>G, NM_001184960.2:c.1275A>G, NM_001184960.1:c.1275A>G, NM_001353897.2:c.1146A>G, NM_001353897.1:c.1146A>G, XM_011545498.4:c.2121A>G, XM_011545500.4:c.1992A>G, XM_011545499.4:c.2010A>G, XM_011545499.3:c.2010A>G, XM_011545499.2:c.2010A>G, XM_011545499.1:c.2010A>G, XM_011545502.3:c.1326A>G, XM_011545502.2:c.1326A>G, XM_011545502.1:c.1326A>G, XM_017029467.3:c.1812A>G, XM_017029467.2:c.1812A>G, XM_017029467.1:c.1812A>G, XM_017029468.3:c.1737A>G, XM_017029468.2:c.1737A>G, XM_017029468.1:c.1737A>G, XM_017029460.2:c.1998A>G, XM_017029460.1:c.1998A>G, XM_017029461.2:c.1941A>G, XM_017029461.1:c.1941A>G, XM_017029469.2:c.1206A>G, XM_017029469.1:c.1206A>G, XM_047442050.1:c.1197A>G, NM_001410756.1:c.2121A>G, NM_001410757.1:c.1992A>G, XM_047442039.1:c.2028A>G, XM_047442041.1:c.1944A>G, XM_047442042.1:c.1896A>G, XM_047442040.1:c.1944A>G, XM_047442043.1:c.1866A>G, XM_047442045.1:c.1812A>G, XM_047442046.1:c.1767A>G, XM_047442044.1:c.1812A>G, XM_047442048.1:c.1683A>G, XM_047442047.1:c.1749A>G, XM_047442049.1:c.1683A>G, NM_001410758.1:c.1683A>G

      3.

      rs1488750108 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:19645454 (GRCh38)
        X:19663572 (GRCh37)
        Canonical SPDI:
        NC_000023.11:19645453:C:T
        Gene:
        SH3KBP1 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,5_prime_UTR_variant
        Validated:
        by frequency,by alfa
        MAF:
        T=0./0 (ALFA)
        T=0.000004/1 (TOPMED)
        HGVS:
        NC_000023.11:g.19645454C>T, NC_000023.10:g.19663572C>T, NG_021367.1:g.247173G>A, NM_031892.3:c.748G>A, NM_031892.2:c.748G>A, NM_001024666.3:c.637G>A, NM_001024666.2:c.637G>A, NM_001353891.2:c.823G>A, NM_001353891.1:c.823G>A, NM_001353892.2:c.823G>A, NM_001353892.1:c.823G>A, NM_001353890.2:c.748G>A, NM_001353890.1:c.748G>A, NM_001353893.2:c.646G>A, NM_001353893.1:c.646G>A, NM_001353895.2:c.703G>A, NM_001353895.1:c.703G>A, NM_001353894.2:c.646G>A, NM_001353894.1:c.646G>A, NM_001184960.2:c.34G>A, NM_001184960.1:c.34G>A, NM_001353897.2:c.34G>A, NM_001353897.1:c.34G>A, XM_011545498.4:c.880G>A, XM_011545500.4:c.880G>A, XM_011545499.4:c.769G>A, XM_011545499.3:c.769G>A, XM_011545499.2:c.769G>A, XM_011545499.1:c.769G>A, XM_011545503.4:c.880G>A, XM_011545503.3:c.880G>A, XM_011545503.2:c.880G>A, XM_011545503.1:c.880G>A, XM_011545502.3:c.85G>A, XM_011545502.2:c.85G>A, XM_011545502.1:c.85G>A, XM_017029467.3:c.700G>A, XM_017029467.2:c.700G>A, XM_017029467.1:c.700G>A, XM_017029468.3:c.625G>A, XM_017029468.2:c.625G>A, XM_017029468.1:c.625G>A, XM_017029460.2:c.757G>A, XM_017029460.1:c.757G>A, XM_017029461.2:c.700G>A, XM_017029461.1:c.700G>A, XM_017029469.2:c.-36G>A, XM_017029469.1:c.-36G>A, XM_047442050.1:c.85G>A, NM_001410756.1:c.880G>A, NM_001410757.1:c.880G>A, XM_047442039.1:c.787G>A, XM_047442041.1:c.703G>A, XM_047442042.1:c.655G>A, XM_047442040.1:c.703G>A, XM_047442043.1:c.625G>A, XM_047442045.1:c.571G>A, XM_047442046.1:c.655G>A, XM_047442044.1:c.571G>A, XM_047442048.1:c.571G>A, XM_047442047.1:c.637G>A, XM_047442049.1:c.571G>A, NM_001410758.1:c.571G>A, NP_114098.1:p.Ala250Thr, NP_001019837.1:p.Ala213Thr, NP_001340820.1:p.Ala275Thr, NP_001340821.1:p.Ala275Thr, NP_001340819.1:p.Ala250Thr, NP_001340822.1:p.Ala216Thr, NP_001340824.1:p.Ala235Thr, NP_001340823.1:p.Ala216Thr, NP_001171889.1:p.Ala12Thr, NP_001340826.1:p.Ala12Thr, XP_011543800.1:p.Ala294Thr, XP_011543802.1:p.Ala294Thr, XP_011543801.1:p.Ala257Thr, XP_011543805.1:p.Ala294Thr, XP_011543804.1:p.Ala29Thr, XP_016884956.1:p.Ala234Thr, XP_016884957.1:p.Ala209Thr, XP_016884949.1:p.Ala253Thr, XP_016884950.1:p.Ala234Thr, XP_047298006.1:p.Ala29Thr, XP_047297995.1:p.Ala263Thr, XP_047297997.1:p.Ala235Thr, XP_047297998.1:p.Ala219Thr, XP_047297996.1:p.Ala235Thr, XP_047297999.1:p.Ala209Thr, XP_047298001.1:p.Ala191Thr, XP_047298002.1:p.Ala219Thr, XP_047298000.1:p.Ala191Thr, XP_047298004.1:p.Ala191Thr, XP_047298003.1:p.Ala213Thr, XP_047298005.1:p.Ala191Thr

        4.

        rs1488573871 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>G [Show Flanks]
          Chromosome:
          X:19569171 (GRCh38)
          X:19587289 (GRCh37)
          Canonical SPDI:
          NC_000023.11:19569170:A:G
          Gene:
          SH3KBP1 (Varview)
          Functional Consequence:
          coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
          Validated:
          by frequency
          MAF:
          G=0.000005/1 (GnomAD_exomes)
          HGVS:
          NC_000023.11:g.19569171A>G, NC_000023.10:g.19587289A>G, NG_021367.1:g.323456T>C, NM_031892.3:c.1316T>C, NM_031892.2:c.1316T>C, NM_001024666.3:c.1205T>C, NM_001024666.2:c.1205T>C, NM_001353891.2:c.1391T>C, NM_001353891.1:c.1391T>C, NM_001353892.2:c.1391T>C, NM_001353892.1:c.1391T>C, NM_001353890.2:c.1316T>C, NM_001353890.1:c.1316T>C, NM_001353893.2:c.1214T>C, NM_001353893.1:c.1214T>C, NM_001353895.2:c.1271T>C, NM_001353895.1:c.1271T>C, NM_001353894.2:c.1214T>C, NM_001353894.1:c.1214T>C, NM_001184960.2:c.602T>C, NM_001184960.1:c.602T>C, NM_001353897.2:c.602T>C, NM_001353897.1:c.602T>C, XM_011545498.4:c.1448T>C, XM_011545500.4:c.1448T>C, XM_011545499.4:c.1337T>C, XM_011545499.3:c.1337T>C, XM_011545499.2:c.1337T>C, XM_011545499.1:c.1337T>C, XM_011545502.3:c.653T>C, XM_011545502.2:c.653T>C, XM_011545502.1:c.653T>C, XM_017029467.3:c.1268T>C, XM_017029467.2:c.1268T>C, XM_017029467.1:c.1268T>C, XM_017029468.3:c.1193T>C, XM_017029468.2:c.1193T>C, XM_017029468.1:c.1193T>C, XM_017029460.2:c.1325T>C, XM_017029460.1:c.1325T>C, XM_017029461.2:c.1268T>C, XM_017029461.1:c.1268T>C, XM_017029469.2:c.533T>C, XM_017029469.1:c.533T>C, XM_047442050.1:c.653T>C, NM_001410756.1:c.1448T>C, NM_001410757.1:c.1448T>C, XM_047442039.1:c.1355T>C, XM_047442041.1:c.1271T>C, XM_047442042.1:c.1223T>C, XM_047442040.1:c.1271T>C, XM_047442043.1:c.1193T>C, XM_047442045.1:c.1139T>C, XM_047442046.1:c.1223T>C, XM_047442044.1:c.1139T>C, XM_047442048.1:c.1139T>C, XM_047442047.1:c.1205T>C, XM_047442049.1:c.1139T>C, NM_001410758.1:c.1139T>C, NP_114098.1:p.Ile439Thr, NP_001019837.1:p.Ile402Thr, NP_001340820.1:p.Ile464Thr, NP_001340821.1:p.Ile464Thr, NP_001340819.1:p.Ile439Thr, NP_001340822.1:p.Ile405Thr, NP_001340824.1:p.Ile424Thr, NP_001340823.1:p.Ile405Thr, NP_001171889.1:p.Ile201Thr, NP_001340826.1:p.Ile201Thr, XP_011543800.1:p.Ile483Thr, XP_011543802.1:p.Ile483Thr, XP_011543801.1:p.Ile446Thr, XP_011543804.1:p.Ile218Thr, XP_016884956.1:p.Ile423Thr, XP_016884957.1:p.Ile398Thr, XP_016884949.1:p.Ile442Thr, XP_016884950.1:p.Ile423Thr, XP_016884958.1:p.Ile178Thr, XP_047298006.1:p.Ile218Thr, XP_047297995.1:p.Ile452Thr, XP_047297997.1:p.Ile424Thr, XP_047297998.1:p.Ile408Thr, XP_047297996.1:p.Ile424Thr, XP_047297999.1:p.Ile398Thr, XP_047298001.1:p.Ile380Thr, XP_047298002.1:p.Ile408Thr, XP_047298000.1:p.Ile380Thr, XP_047298004.1:p.Ile380Thr, XP_047298003.1:p.Ile402Thr, XP_047298005.1:p.Ile380Thr

          5.

          rs1488429557 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            C>T [Show Flanks]
            Chromosome:
            X:19607994 (GRCh38)
            X:19626112 (GRCh37)
            Canonical SPDI:
            NC_000023.11:19607993:C:T
            Gene:
            SH3KBP1 (Varview)
            Functional Consequence:
            coding_sequence_variant,missense_variant
            HGVS:
            NC_000023.11:g.19607994C>T, NC_000023.10:g.19626112C>T, NG_021367.1:g.284633G>A, NM_031892.3:c.949G>A, NM_031892.2:c.949G>A, NM_001024666.3:c.838G>A, NM_001024666.2:c.838G>A, NM_001353891.2:c.1024G>A, NM_001353891.1:c.1024G>A, NM_001353892.2:c.1024G>A, NM_001353892.1:c.1024G>A, NM_001353890.2:c.949G>A, NM_001353890.1:c.949G>A, NM_001353893.2:c.847G>A, NM_001353893.1:c.847G>A, NM_001353895.2:c.904G>A, NM_001353895.1:c.904G>A, NM_001353894.2:c.847G>A, NM_001353894.1:c.847G>A, NM_001184960.2:c.235G>A, NM_001184960.1:c.235G>A, NM_001353897.2:c.235G>A, NM_001353897.1:c.235G>A, XM_011545498.4:c.1081G>A, XM_011545500.4:c.1081G>A, XM_011545499.4:c.970G>A, XM_011545499.3:c.970G>A, XM_011545499.2:c.970G>A, XM_011545499.1:c.970G>A, XM_011545503.4:c.1081G>A, XM_011545503.3:c.1081G>A, XM_011545503.2:c.1081G>A, XM_011545503.1:c.1081G>A, XM_011545502.3:c.286G>A, XM_011545502.2:c.286G>A, XM_011545502.1:c.286G>A, XM_017029467.3:c.901G>A, XM_017029467.2:c.901G>A, XM_017029467.1:c.901G>A, XM_017029468.3:c.826G>A, XM_017029468.2:c.826G>A, XM_017029468.1:c.826G>A, XM_017029460.2:c.958G>A, XM_017029460.1:c.958G>A, XM_017029461.2:c.901G>A, XM_017029461.1:c.901G>A, XM_017029469.2:c.166G>A, XM_017029469.1:c.166G>A, XM_047442050.1:c.286G>A, NM_001410756.1:c.1081G>A, NM_001410757.1:c.1081G>A, XM_047442039.1:c.988G>A, XM_047442041.1:c.904G>A, XM_047442042.1:c.856G>A, XM_047442040.1:c.904G>A, XM_047442043.1:c.826G>A, XM_047442045.1:c.772G>A, XM_047442046.1:c.856G>A, XM_047442044.1:c.772G>A, XM_047442048.1:c.772G>A, XM_047442047.1:c.838G>A, XM_047442049.1:c.772G>A, NM_001410758.1:c.772G>A, NP_114098.1:p.Val317Met, NP_001019837.1:p.Val280Met, NP_001340820.1:p.Val342Met, NP_001340821.1:p.Val342Met, NP_001340819.1:p.Val317Met, NP_001340822.1:p.Val283Met, NP_001340824.1:p.Val302Met, NP_001340823.1:p.Val283Met, NP_001171889.1:p.Val79Met, NP_001340826.1:p.Val79Met, XP_011543800.1:p.Val361Met, XP_011543802.1:p.Val361Met, XP_011543801.1:p.Val324Met, XP_011543805.1:p.Val361Met, XP_011543804.1:p.Val96Met, XP_016884956.1:p.Val301Met, XP_016884957.1:p.Val276Met, XP_016884949.1:p.Val320Met, XP_016884950.1:p.Val301Met, XP_016884958.1:p.Val56Met, XP_047298006.1:p.Val96Met, XP_047297995.1:p.Val330Met, XP_047297997.1:p.Val302Met, XP_047297998.1:p.Val286Met, XP_047297996.1:p.Val302Met, XP_047297999.1:p.Val276Met, XP_047298001.1:p.Val258Met, XP_047298002.1:p.Val286Met, XP_047298000.1:p.Val258Met, XP_047298004.1:p.Val258Met, XP_047298003.1:p.Val280Met, XP_047298005.1:p.Val258Met

            6.

            rs1486533312 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              X:19541978 (GRCh38)
              X:19560096 (GRCh37)
              Canonical SPDI:
              NC_000023.11:19541977:C:T
              Gene:
              SH3KBP1 (Varview)
              Functional Consequence:
              coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              T=0./0 (ALFA)
              T=0.000004/1 (TOPMED)
              T=0.000011/2 (GnomAD_exomes)
              HGVS:
              NC_000023.11:g.19541978C>T, NC_000023.10:g.19560096C>T, NG_021367.1:g.350649G>A, NM_031892.3:c.1839G>A, NM_031892.2:c.1839G>A, NM_001024666.3:c.1728G>A, NM_001024666.2:c.1728G>A, NM_001353891.2:c.1914G>A, NM_001353891.1:c.1914G>A, NM_001353892.2:c.1785G>A, NM_001353892.1:c.1785G>A, NM_001353890.2:c.1710G>A, NM_001353890.1:c.1710G>A, NM_001353893.2:c.1737G>A, NM_001353893.1:c.1737G>A, NM_001353895.2:c.1665G>A, NM_001353895.1:c.1665G>A, NM_001353894.2:c.1608G>A, NM_001353894.1:c.1608G>A, NM_001184960.2:c.1125G>A, NM_001184960.1:c.1125G>A, NM_001353897.2:c.996G>A, NM_001353897.1:c.996G>A, XM_011545498.4:c.1971G>A, XM_011545500.4:c.1842G>A, XM_011545499.4:c.1860G>A, XM_011545499.3:c.1860G>A, XM_011545499.2:c.1860G>A, XM_011545499.1:c.1860G>A, XM_011545502.3:c.1176G>A, XM_011545502.2:c.1176G>A, XM_011545502.1:c.1176G>A, XM_017029467.3:c.1662G>A, XM_017029467.2:c.1662G>A, XM_017029467.1:c.1662G>A, XM_017029468.3:c.1587G>A, XM_017029468.2:c.1587G>A, XM_017029468.1:c.1587G>A, XM_017029460.2:c.1848G>A, XM_017029460.1:c.1848G>A, XM_017029461.2:c.1791G>A, XM_017029461.1:c.1791G>A, XM_017029469.2:c.1056G>A, XM_017029469.1:c.1056G>A, XM_047442050.1:c.1047G>A, NM_001410756.1:c.1971G>A, NM_001410757.1:c.1842G>A, XM_047442039.1:c.1878G>A, XM_047442041.1:c.1794G>A, XM_047442042.1:c.1746G>A, XM_047442040.1:c.1794G>A, XM_047442043.1:c.1716G>A, XM_047442045.1:c.1662G>A, XM_047442046.1:c.1617G>A, XM_047442044.1:c.1662G>A, XM_047442048.1:c.1533G>A, XM_047442047.1:c.1599G>A, XM_047442049.1:c.1533G>A, NM_001410758.1:c.1533G>A

              7.

              rs1486472082 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>C [Show Flanks]
                Chromosome:
                X:19569177 (GRCh38)
                X:19587295 (GRCh37)
                Canonical SPDI:
                NC_000023.11:19569176:G:C
                Gene:
                SH3KBP1 (Varview)
                Functional Consequence:
                coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                Validated:
                by frequency
                MAF:
                C=0.000005/1 (GnomAD_exomes)
                HGVS:
                NC_000023.11:g.19569177G>C, NC_000023.10:g.19587295G>C, NG_021367.1:g.323450C>G, NM_031892.3:c.1310C>G, NM_031892.2:c.1310C>G, NM_001024666.3:c.1199C>G, NM_001024666.2:c.1199C>G, NM_001353891.2:c.1385C>G, NM_001353891.1:c.1385C>G, NM_001353892.2:c.1385C>G, NM_001353892.1:c.1385C>G, NM_001353890.2:c.1310C>G, NM_001353890.1:c.1310C>G, NM_001353893.2:c.1208C>G, NM_001353893.1:c.1208C>G, NM_001353895.2:c.1265C>G, NM_001353895.1:c.1265C>G, NM_001353894.2:c.1208C>G, NM_001353894.1:c.1208C>G, NM_001184960.2:c.596C>G, NM_001184960.1:c.596C>G, NM_001353897.2:c.596C>G, NM_001353897.1:c.596C>G, XM_011545498.4:c.1442C>G, XM_011545500.4:c.1442C>G, XM_011545499.4:c.1331C>G, XM_011545499.3:c.1331C>G, XM_011545499.2:c.1331C>G, XM_011545499.1:c.1331C>G, XM_011545502.3:c.647C>G, XM_011545502.2:c.647C>G, XM_011545502.1:c.647C>G, XM_017029467.3:c.1262C>G, XM_017029467.2:c.1262C>G, XM_017029467.1:c.1262C>G, XM_017029468.3:c.1187C>G, XM_017029468.2:c.1187C>G, XM_017029468.1:c.1187C>G, XM_017029460.2:c.1319C>G, XM_017029460.1:c.1319C>G, XM_017029461.2:c.1262C>G, XM_017029461.1:c.1262C>G, XM_017029469.2:c.527C>G, XM_017029469.1:c.527C>G, XM_047442050.1:c.647C>G, NM_001410756.1:c.1442C>G, NM_001410757.1:c.1442C>G, XM_047442039.1:c.1349C>G, XM_047442041.1:c.1265C>G, XM_047442042.1:c.1217C>G, XM_047442040.1:c.1265C>G, XM_047442043.1:c.1187C>G, XM_047442045.1:c.1133C>G, XM_047442046.1:c.1217C>G, XM_047442044.1:c.1133C>G, XM_047442048.1:c.1133C>G, XM_047442047.1:c.1199C>G, XM_047442049.1:c.1133C>G, NM_001410758.1:c.1133C>G, NP_114098.1:p.Pro437Arg, NP_001019837.1:p.Pro400Arg, NP_001340820.1:p.Pro462Arg, NP_001340821.1:p.Pro462Arg, NP_001340819.1:p.Pro437Arg, NP_001340822.1:p.Pro403Arg, NP_001340824.1:p.Pro422Arg, NP_001340823.1:p.Pro403Arg, NP_001171889.1:p.Pro199Arg, NP_001340826.1:p.Pro199Arg, XP_011543800.1:p.Pro481Arg, XP_011543802.1:p.Pro481Arg, XP_011543801.1:p.Pro444Arg, XP_011543804.1:p.Pro216Arg, XP_016884956.1:p.Pro421Arg, XP_016884957.1:p.Pro396Arg, XP_016884949.1:p.Pro440Arg, XP_016884950.1:p.Pro421Arg, XP_016884958.1:p.Pro176Arg, XP_047298006.1:p.Pro216Arg, XP_047297995.1:p.Pro450Arg, XP_047297997.1:p.Pro422Arg, XP_047297998.1:p.Pro406Arg, XP_047297996.1:p.Pro422Arg, XP_047297999.1:p.Pro396Arg, XP_047298001.1:p.Pro378Arg, XP_047298002.1:p.Pro406Arg, XP_047298000.1:p.Pro378Arg, XP_047298004.1:p.Pro378Arg, XP_047298003.1:p.Pro400Arg, XP_047298005.1:p.Pro378Arg

                8.

                rs1484899906 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>C [Show Flanks]
                  Chromosome:
                  X:19545932 (GRCh38)
                  X:19564050 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:19545931:G:C
                  Gene:
                  SH3KBP1 (Varview)
                  Functional Consequence:
                  intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                  Validated:
                  by frequency
                  MAF:
                  C=0.000005/1 (GnomAD_exomes)
                  HGVS:
                  NC_000023.11:g.19545932G>C, NC_000023.10:g.19564050G>C, NG_021367.1:g.346695C>G, NM_031892.3:c.1613C>G, NM_031892.2:c.1613C>G, NM_001024666.3:c.1502C>G, NM_001024666.2:c.1502C>G, NM_001353891.2:c.1688C>G, NM_001353891.1:c.1688C>G, NM_001353893.2:c.1511C>G, NM_001353893.1:c.1511C>G, NM_001184960.2:c.899C>G, NM_001184960.1:c.899C>G, XM_011545498.4:c.1745C>G, XM_011545499.4:c.1634C>G, XM_011545499.3:c.1634C>G, XM_011545499.2:c.1634C>G, XM_011545499.1:c.1634C>G, XM_011545502.3:c.950C>G, XM_011545502.2:c.950C>G, XM_011545502.1:c.950C>G, XM_017029460.2:c.1622C>G, XM_017029460.1:c.1622C>G, XM_017029461.2:c.1565C>G, XM_017029461.1:c.1565C>G, XM_017029469.2:c.830C>G, XM_017029469.1:c.830C>G, NM_001410756.1:c.1745C>G, XM_047442039.1:c.1652C>G, XM_047442041.1:c.1568C>G, XM_047442042.1:c.1520C>G, XM_047442040.1:c.1568C>G, XM_047442043.1:c.1490C>G, XM_047442045.1:c.1436C>G, XM_047442044.1:c.1436C>G, NP_114098.1:p.Thr538Ser, NP_001019837.1:p.Thr501Ser, NP_001340820.1:p.Thr563Ser, NP_001340822.1:p.Thr504Ser, NP_001171889.1:p.Thr300Ser, XP_011543800.1:p.Thr582Ser, XP_011543801.1:p.Thr545Ser, XP_011543804.1:p.Thr317Ser, XP_016884949.1:p.Thr541Ser, XP_016884950.1:p.Thr522Ser, XP_016884958.1:p.Thr277Ser, XP_047297995.1:p.Thr551Ser, XP_047297997.1:p.Thr523Ser, XP_047297998.1:p.Thr507Ser, XP_047297996.1:p.Thr523Ser, XP_047297999.1:p.Thr497Ser, XP_047298001.1:p.Thr479Ser, XP_047298000.1:p.Thr479Ser

                  9.

                  rs1484119877 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:19549993 (GRCh38)
                    X:19568111 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:19549992:G:A
                    Gene:
                    SH3KBP1 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                    Validated:
                    by cluster
                    HGVS:
                    NC_000023.11:g.19549993G>A, NC_000023.10:g.19568111G>A, NG_021367.1:g.342634C>T, NM_031892.3:c.1475C>T, NM_031892.2:c.1475C>T, NM_001024666.3:c.1364C>T, NM_001024666.2:c.1364C>T, NM_001353891.2:c.1550C>T, NM_001353891.1:c.1550C>T, NM_001353892.2:c.1550C>T, NM_001353892.1:c.1550C>T, NM_001353890.2:c.1475C>T, NM_001353890.1:c.1475C>T, NM_001353893.2:c.1373C>T, NM_001353893.1:c.1373C>T, NM_001353895.2:c.1430C>T, NM_001353895.1:c.1430C>T, NM_001353894.2:c.1373C>T, NM_001353894.1:c.1373C>T, NM_001184960.2:c.761C>T, NM_001184960.1:c.761C>T, NM_001353897.2:c.761C>T, NM_001353897.1:c.761C>T, XM_011545498.4:c.1607C>T, XM_011545500.4:c.1607C>T, XM_011545499.4:c.1496C>T, XM_011545499.3:c.1496C>T, XM_011545499.2:c.1496C>T, XM_011545499.1:c.1496C>T, XM_011545502.3:c.812C>T, XM_011545502.2:c.812C>T, XM_011545502.1:c.812C>T, XM_017029467.3:c.1427C>T, XM_017029467.2:c.1427C>T, XM_017029467.1:c.1427C>T, XM_017029468.3:c.1352C>T, XM_017029468.2:c.1352C>T, XM_017029468.1:c.1352C>T, XM_017029460.2:c.1484C>T, XM_017029460.1:c.1484C>T, XM_017029461.2:c.1427C>T, XM_017029461.1:c.1427C>T, XM_017029469.2:c.692C>T, XM_017029469.1:c.692C>T, XM_047442050.1:c.812C>T, NM_001410756.1:c.1607C>T, NM_001410757.1:c.1607C>T, XM_047442039.1:c.1514C>T, XM_047442041.1:c.1430C>T, XM_047442042.1:c.1382C>T, XM_047442040.1:c.1430C>T, XM_047442043.1:c.1352C>T, XM_047442045.1:c.1298C>T, XM_047442046.1:c.1382C>T, XM_047442044.1:c.1298C>T, XM_047442048.1:c.1298C>T, XM_047442047.1:c.1364C>T, XM_047442049.1:c.1298C>T, NM_001410758.1:c.1298C>T, NP_114098.1:p.Pro492Leu, NP_001019837.1:p.Pro455Leu, NP_001340820.1:p.Pro517Leu, NP_001340821.1:p.Pro517Leu, NP_001340819.1:p.Pro492Leu, NP_001340822.1:p.Pro458Leu, NP_001340824.1:p.Pro477Leu, NP_001340823.1:p.Pro458Leu, NP_001171889.1:p.Pro254Leu, NP_001340826.1:p.Pro254Leu, XP_011543800.1:p.Pro536Leu, XP_011543802.1:p.Pro536Leu, XP_011543801.1:p.Pro499Leu, XP_011543804.1:p.Pro271Leu, XP_016884956.1:p.Pro476Leu, XP_016884957.1:p.Pro451Leu, XP_016884949.1:p.Pro495Leu, XP_016884950.1:p.Pro476Leu, XP_016884958.1:p.Pro231Leu, XP_047298006.1:p.Pro271Leu, XP_047297995.1:p.Pro505Leu, XP_047297997.1:p.Pro477Leu, XP_047297998.1:p.Pro461Leu, XP_047297996.1:p.Pro477Leu, XP_047297999.1:p.Pro451Leu, XP_047298001.1:p.Pro433Leu, XP_047298002.1:p.Pro461Leu, XP_047298000.1:p.Pro433Leu, XP_047298004.1:p.Pro433Leu, XP_047298003.1:p.Pro455Leu, XP_047298005.1:p.Pro433Leu

                    10.

                    rs1478442520 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>C [Show Flanks]
                      Chromosome:
                      X:19542018 (GRCh38)
                      X:19560136 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:19542017:T:C
                      Gene:
                      SH3KBP1 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      C=0./0 (ALFA)
                      C=0.000019/2 (GnomAD)
                      HGVS:
                      NC_000023.11:g.19542018T>C, NC_000023.10:g.19560136T>C, NG_021367.1:g.350609A>G, NM_031892.3:c.1799A>G, NM_031892.2:c.1799A>G, NM_001024666.3:c.1688A>G, NM_001024666.2:c.1688A>G, NM_001353891.2:c.1874A>G, NM_001353891.1:c.1874A>G, NM_001353892.2:c.1745A>G, NM_001353892.1:c.1745A>G, NM_001353890.2:c.1670A>G, NM_001353890.1:c.1670A>G, NM_001353893.2:c.1697A>G, NM_001353893.1:c.1697A>G, NM_001353895.2:c.1625A>G, NM_001353895.1:c.1625A>G, NM_001353894.2:c.1568A>G, NM_001353894.1:c.1568A>G, NM_001184960.2:c.1085A>G, NM_001184960.1:c.1085A>G, NM_001353897.2:c.956A>G, NM_001353897.1:c.956A>G, XM_011545498.4:c.1931A>G, XM_011545500.4:c.1802A>G, XM_011545499.4:c.1820A>G, XM_011545499.3:c.1820A>G, XM_011545499.2:c.1820A>G, XM_011545499.1:c.1820A>G, XM_011545502.3:c.1136A>G, XM_011545502.2:c.1136A>G, XM_011545502.1:c.1136A>G, XM_017029467.3:c.1622A>G, XM_017029467.2:c.1622A>G, XM_017029467.1:c.1622A>G, XM_017029468.3:c.1547A>G, XM_017029468.2:c.1547A>G, XM_017029468.1:c.1547A>G, XM_017029460.2:c.1808A>G, XM_017029460.1:c.1808A>G, XM_017029461.2:c.1751A>G, XM_017029461.1:c.1751A>G, XM_017029469.2:c.1016A>G, XM_017029469.1:c.1016A>G, XM_047442050.1:c.1007A>G, NM_001410756.1:c.1931A>G, NM_001410757.1:c.1802A>G, XM_047442039.1:c.1838A>G, XM_047442041.1:c.1754A>G, XM_047442042.1:c.1706A>G, XM_047442040.1:c.1754A>G, XM_047442043.1:c.1676A>G, XM_047442045.1:c.1622A>G, XM_047442046.1:c.1577A>G, XM_047442044.1:c.1622A>G, XM_047442048.1:c.1493A>G, XM_047442047.1:c.1559A>G, XM_047442049.1:c.1493A>G, NM_001410758.1:c.1493A>G, NP_114098.1:p.Glu600Gly, NP_001019837.1:p.Glu563Gly, NP_001340820.1:p.Glu625Gly, NP_001340821.1:p.Glu582Gly, NP_001340819.1:p.Glu557Gly, NP_001340822.1:p.Glu566Gly, NP_001340824.1:p.Glu542Gly, NP_001340823.1:p.Glu523Gly, NP_001171889.1:p.Glu362Gly, NP_001340826.1:p.Glu319Gly, XP_011543800.1:p.Glu644Gly, XP_011543802.1:p.Glu601Gly, XP_011543801.1:p.Glu607Gly, XP_011543804.1:p.Glu379Gly, XP_016884956.1:p.Glu541Gly, XP_016884957.1:p.Glu516Gly, XP_016884949.1:p.Glu603Gly, XP_016884950.1:p.Glu584Gly, XP_016884958.1:p.Glu339Gly, XP_047298006.1:p.Glu336Gly, XP_047297995.1:p.Glu613Gly, XP_047297997.1:p.Glu585Gly, XP_047297998.1:p.Glu569Gly, XP_047297996.1:p.Glu585Gly, XP_047297999.1:p.Glu559Gly, XP_047298001.1:p.Glu541Gly, XP_047298002.1:p.Glu526Gly, XP_047298000.1:p.Glu541Gly, XP_047298004.1:p.Glu498Gly, XP_047298003.1:p.Glu520Gly, XP_047298005.1:p.Glu498Gly

                      11.

                      rs1475697975 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        X:19537753 (GRCh38)
                        X:19555871 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:19537752:C:T
                        Gene:
                        SH3KBP1 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                        Clinical significance:
                        likely-benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000016/3 (GnomAD_exomes)
                        T=0.000029/3 (GnomAD)
                        T=0.000087/23 (TOPMED)
                        HGVS:
                        NC_000023.11:g.19537753C>T, NC_000023.10:g.19555871C>T, NG_021367.1:g.354874G>A, NM_031892.3:c.1920G>A, NM_031892.2:c.1920G>A, NM_001024666.3:c.1809G>A, NM_001024666.2:c.1809G>A, NM_001353891.2:c.1995G>A, NM_001353891.1:c.1995G>A, NM_001353892.2:c.1866G>A, NM_001353892.1:c.1866G>A, NM_001353890.2:c.1791G>A, NM_001353890.1:c.1791G>A, NM_001353893.2:c.1818G>A, NM_001353893.1:c.1818G>A, NM_001353895.2:c.1746G>A, NM_001353895.1:c.1746G>A, NM_001353894.2:c.1689G>A, NM_001353894.1:c.1689G>A, NM_001184960.2:c.1206G>A, NM_001184960.1:c.1206G>A, NM_001353897.2:c.1077G>A, NM_001353897.1:c.1077G>A, XM_011545498.4:c.2052G>A, XM_011545500.4:c.1923G>A, XM_011545499.4:c.1941G>A, XM_011545499.3:c.1941G>A, XM_011545499.2:c.1941G>A, XM_011545499.1:c.1941G>A, XM_011545502.3:c.1257G>A, XM_011545502.2:c.1257G>A, XM_011545502.1:c.1257G>A, XM_017029467.3:c.1743G>A, XM_017029467.2:c.1743G>A, XM_017029467.1:c.1743G>A, XM_017029468.3:c.1668G>A, XM_017029468.2:c.1668G>A, XM_017029468.1:c.1668G>A, XM_017029460.2:c.1929G>A, XM_017029460.1:c.1929G>A, XM_017029461.2:c.1872G>A, XM_017029461.1:c.1872G>A, XM_017029469.2:c.1137G>A, XM_017029469.1:c.1137G>A, XM_047442050.1:c.1128G>A, NM_001410756.1:c.2052G>A, NM_001410757.1:c.1923G>A, XM_047442039.1:c.1959G>A, XM_047442041.1:c.1875G>A, XM_047442042.1:c.1827G>A, XM_047442040.1:c.1875G>A, XM_047442043.1:c.1797G>A, XM_047442045.1:c.1743G>A, XM_047442046.1:c.1698G>A, XM_047442044.1:c.1743G>A, XM_047442048.1:c.1614G>A, XM_047442047.1:c.1680G>A, XM_047442049.1:c.1614G>A, NM_001410758.1:c.1614G>A

                        12.

                        rs1475042591 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>C [Show Flanks]
                          Chromosome:
                          X:19550019 (GRCh38)
                          X:19568137 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:19550018:T:C
                          Gene:
                          SH3KBP1 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
                          Validated:
                          by frequency
                          MAF:
                          C=0.000005/1 (GnomAD_exomes)
                          HGVS:
                          NC_000023.11:g.19550019T>C, NC_000023.10:g.19568137T>C, NG_021367.1:g.342608A>G, NM_031892.3:c.1449A>G, NM_031892.2:c.1449A>G, NM_001024666.3:c.1338A>G, NM_001024666.2:c.1338A>G, NM_001353891.2:c.1524A>G, NM_001353891.1:c.1524A>G, NM_001353892.2:c.1524A>G, NM_001353892.1:c.1524A>G, NM_001353890.2:c.1449A>G, NM_001353890.1:c.1449A>G, NM_001353893.2:c.1347A>G, NM_001353893.1:c.1347A>G, NM_001353895.2:c.1404A>G, NM_001353895.1:c.1404A>G, NM_001353894.2:c.1347A>G, NM_001353894.1:c.1347A>G, NM_001184960.2:c.735A>G, NM_001184960.1:c.735A>G, NM_001353897.2:c.735A>G, NM_001353897.1:c.735A>G, XM_011545498.4:c.1581A>G, XM_011545500.4:c.1581A>G, XM_011545499.4:c.1470A>G, XM_011545499.3:c.1470A>G, XM_011545499.2:c.1470A>G, XM_011545499.1:c.1470A>G, XM_011545502.3:c.786A>G, XM_011545502.2:c.786A>G, XM_011545502.1:c.786A>G, XM_017029467.3:c.1401A>G, XM_017029467.2:c.1401A>G, XM_017029467.1:c.1401A>G, XM_017029468.3:c.1326A>G, XM_017029468.2:c.1326A>G, XM_017029468.1:c.1326A>G, XM_017029460.2:c.1458A>G, XM_017029460.1:c.1458A>G, XM_017029461.2:c.1401A>G, XM_017029461.1:c.1401A>G, XM_017029469.2:c.666A>G, XM_017029469.1:c.666A>G, XM_047442050.1:c.786A>G, NM_001410756.1:c.1581A>G, NM_001410757.1:c.1581A>G, XM_047442039.1:c.1488A>G, XM_047442041.1:c.1404A>G, XM_047442042.1:c.1356A>G, XM_047442040.1:c.1404A>G, XM_047442043.1:c.1326A>G, XM_047442045.1:c.1272A>G, XM_047442046.1:c.1356A>G, XM_047442044.1:c.1272A>G, XM_047442048.1:c.1272A>G, XM_047442047.1:c.1338A>G, XM_047442049.1:c.1272A>G, NM_001410758.1:c.1272A>G

                          13.

                          rs1473872344 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            T>C [Show Flanks]
                            Chromosome:
                            X:19594994 (GRCh38)
                            X:19613112 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:19594993:T:C
                            Gene:
                            SH3KBP1 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            C=0./0 (ALFA)
                            C=0.000004/1 (TOPMED)
                            C=0.00001/1 (GnomAD)
                            HGVS:
                            NC_000023.11:g.19594994T>C, NC_000023.10:g.19613112T>C, NG_021367.1:g.297633A>G, NM_031892.3:c.1012A>G, NM_031892.2:c.1012A>G, NM_001024666.3:c.901A>G, NM_001024666.2:c.901A>G, NM_001353891.2:c.1087A>G, NM_001353891.1:c.1087A>G, NM_001353892.2:c.1087A>G, NM_001353892.1:c.1087A>G, NM_001353890.2:c.1012A>G, NM_001353890.1:c.1012A>G, NM_001353893.2:c.910A>G, NM_001353893.1:c.910A>G, NM_001353895.2:c.967A>G, NM_001353895.1:c.967A>G, NM_001353894.2:c.910A>G, NM_001353894.1:c.910A>G, NM_001184960.2:c.298A>G, NM_001184960.1:c.298A>G, NM_001353897.2:c.298A>G, NM_001353897.1:c.298A>G, XM_011545498.4:c.1144A>G, XM_011545500.4:c.1144A>G, XM_011545499.4:c.1033A>G, XM_011545499.3:c.1033A>G, XM_011545499.2:c.1033A>G, XM_011545499.1:c.1033A>G, XM_011545503.4:c.1144A>G, XM_011545503.3:c.1144A>G, XM_011545503.2:c.1144A>G, XM_011545503.1:c.1144A>G, XM_011545502.3:c.349A>G, XM_011545502.2:c.349A>G, XM_011545502.1:c.349A>G, XM_017029467.3:c.964A>G, XM_017029467.2:c.964A>G, XM_017029467.1:c.964A>G, XM_017029468.3:c.889A>G, XM_017029468.2:c.889A>G, XM_017029468.1:c.889A>G, XM_017029460.2:c.1021A>G, XM_017029460.1:c.1021A>G, XM_017029461.2:c.964A>G, XM_017029461.1:c.964A>G, XM_017029469.2:c.229A>G, XM_017029469.1:c.229A>G, XM_047442050.1:c.349A>G, NM_001410756.1:c.1144A>G, NM_001410757.1:c.1144A>G, XM_047442039.1:c.1051A>G, XM_047442041.1:c.967A>G, XM_047442042.1:c.919A>G, XM_047442040.1:c.967A>G, XM_047442043.1:c.889A>G, XM_047442045.1:c.835A>G, XM_047442046.1:c.919A>G, XM_047442044.1:c.835A>G, XM_047442048.1:c.835A>G, XM_047442047.1:c.901A>G, XM_047442049.1:c.835A>G, NM_001410758.1:c.835A>G, NP_114098.1:p.Lys338Glu, NP_001019837.1:p.Lys301Glu, NP_001340820.1:p.Lys363Glu, NP_001340821.1:p.Lys363Glu, NP_001340819.1:p.Lys338Glu, NP_001340822.1:p.Lys304Glu, NP_001340824.1:p.Lys323Glu, NP_001340823.1:p.Lys304Glu, NP_001171889.1:p.Lys100Glu, NP_001340826.1:p.Lys100Glu, XP_011543800.1:p.Lys382Glu, XP_011543802.1:p.Lys382Glu, XP_011543801.1:p.Lys345Glu, XP_011543805.1:p.Lys382Glu, XP_011543804.1:p.Lys117Glu, XP_016884956.1:p.Lys322Glu, XP_016884957.1:p.Lys297Glu, XP_016884949.1:p.Lys341Glu, XP_016884950.1:p.Lys322Glu, XP_016884958.1:p.Lys77Glu, XP_047298006.1:p.Lys117Glu, XP_047297995.1:p.Lys351Glu, XP_047297997.1:p.Lys323Glu, XP_047297998.1:p.Lys307Glu, XP_047297996.1:p.Lys323Glu, XP_047297999.1:p.Lys297Glu, XP_047298001.1:p.Lys279Glu, XP_047298002.1:p.Lys307Glu, XP_047298000.1:p.Lys279Glu, XP_047298004.1:p.Lys279Glu, XP_047298003.1:p.Lys301Glu, XP_047298005.1:p.Lys279Glu

                            14.

                            rs1465841888 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              T>C [Show Flanks]
                              Chromosome:
                              X:19550055 (GRCh38)
                              X:19568173 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:19550054:T:C
                              Gene:
                              SH3KBP1 (Varview)
                              Functional Consequence:
                              synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000006/1 (GnomAD_exomes)
                              C=0.000011/3 (TOPMED)
                              C=0.000019/2 (GnomAD)
                              HGVS:
                              NC_000023.11:g.19550055T>C, NC_000023.10:g.19568173T>C, NG_021367.1:g.342572A>G, NM_031892.3:c.1413A>G, NM_031892.2:c.1413A>G, NM_001024666.3:c.1302A>G, NM_001024666.2:c.1302A>G, NM_001353891.2:c.1488A>G, NM_001353891.1:c.1488A>G, NM_001353892.2:c.1488A>G, NM_001353892.1:c.1488A>G, NM_001353890.2:c.1413A>G, NM_001353890.1:c.1413A>G, NM_001353893.2:c.1311A>G, NM_001353893.1:c.1311A>G, NM_001353895.2:c.1368A>G, NM_001353895.1:c.1368A>G, NM_001353894.2:c.1311A>G, NM_001353894.1:c.1311A>G, NM_001184960.2:c.699A>G, NM_001184960.1:c.699A>G, NM_001353897.2:c.699A>G, NM_001353897.1:c.699A>G, XM_011545498.4:c.1545A>G, XM_011545500.4:c.1545A>G, XM_011545499.4:c.1434A>G, XM_011545499.3:c.1434A>G, XM_011545499.2:c.1434A>G, XM_011545499.1:c.1434A>G, XM_011545502.3:c.750A>G, XM_011545502.2:c.750A>G, XM_011545502.1:c.750A>G, XM_017029467.3:c.1365A>G, XM_017029467.2:c.1365A>G, XM_017029467.1:c.1365A>G, XM_017029468.3:c.1290A>G, XM_017029468.2:c.1290A>G, XM_017029468.1:c.1290A>G, XM_017029460.2:c.1422A>G, XM_017029460.1:c.1422A>G, XM_017029461.2:c.1365A>G, XM_017029461.1:c.1365A>G, XM_017029469.2:c.630A>G, XM_017029469.1:c.630A>G, XM_047442050.1:c.750A>G, NM_001410756.1:c.1545A>G, NM_001410757.1:c.1545A>G, XM_047442039.1:c.1452A>G, XM_047442041.1:c.1368A>G, XM_047442042.1:c.1320A>G, XM_047442040.1:c.1368A>G, XM_047442043.1:c.1290A>G, XM_047442045.1:c.1236A>G, XM_047442046.1:c.1320A>G, XM_047442044.1:c.1236A>G, XM_047442048.1:c.1236A>G, XM_047442047.1:c.1302A>G, XM_047442049.1:c.1236A>G, NM_001410758.1:c.1236A>G

                              15.

                              rs1455496945 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                G>A [Show Flanks]
                                Chromosome:
                                X:19592143 (GRCh38)
                                X:19610261 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:19592142:G:A
                                Gene:
                                SH3KBP1 (Varview)
                                Functional Consequence:
                                synonymous_variant,coding_sequence_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                A=0./0 (ALFA)
                                A=0.000015/4 (TOPMED)
                                HGVS:
                                NC_000023.11:g.19592143G>A, NC_000023.10:g.19610261G>A, NG_021367.1:g.300484C>T, NM_031892.3:c.1062C>T, NM_031892.2:c.1062C>T, NM_001024666.3:c.951C>T, NM_001024666.2:c.951C>T, NM_001353891.2:c.1137C>T, NM_001353891.1:c.1137C>T, NM_001353892.2:c.1137C>T, NM_001353892.1:c.1137C>T, NM_001353890.2:c.1062C>T, NM_001353890.1:c.1062C>T, NM_001353893.2:c.960C>T, NM_001353893.1:c.960C>T, NM_001353895.2:c.1017C>T, NM_001353895.1:c.1017C>T, NM_001353894.2:c.960C>T, NM_001353894.1:c.960C>T, NM_001184960.2:c.348C>T, NM_001184960.1:c.348C>T, NM_001353897.2:c.348C>T, NM_001353897.1:c.348C>T, XM_011545498.4:c.1194C>T, XM_011545500.4:c.1194C>T, XM_011545499.4:c.1083C>T, XM_011545499.3:c.1083C>T, XM_011545499.2:c.1083C>T, XM_011545499.1:c.1083C>T, XM_011545503.4:c.1194C>T, XM_011545503.3:c.1194C>T, XM_011545503.2:c.1194C>T, XM_011545503.1:c.1194C>T, XM_011545502.3:c.399C>T, XM_011545502.2:c.399C>T, XM_011545502.1:c.399C>T, XM_017029467.3:c.1014C>T, XM_017029467.2:c.1014C>T, XM_017029467.1:c.1014C>T, XM_017029468.3:c.939C>T, XM_017029468.2:c.939C>T, XM_017029468.1:c.939C>T, XM_017029460.2:c.1071C>T, XM_017029460.1:c.1071C>T, XM_017029461.2:c.1014C>T, XM_017029461.1:c.1014C>T, XM_017029469.2:c.279C>T, XM_017029469.1:c.279C>T, XM_047442050.1:c.399C>T, NM_001410756.1:c.1194C>T, NM_001410757.1:c.1194C>T, XM_047442039.1:c.1101C>T, XM_047442041.1:c.1017C>T, XM_047442042.1:c.969C>T, XM_047442040.1:c.1017C>T, XM_047442043.1:c.939C>T, XM_047442045.1:c.885C>T, XM_047442046.1:c.969C>T, XM_047442044.1:c.885C>T, XM_047442048.1:c.885C>T, XM_047442047.1:c.951C>T, XM_047442049.1:c.885C>T, NM_001410758.1:c.885C>T

                                16.

                                rs1452915357 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:19607985 (GRCh38)
                                  X:19626103 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:19607984:C:T
                                  Gene:
                                  SH3KBP1 (Varview)
                                  Functional Consequence:
                                  coding_sequence_variant,missense_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000142/2 (ALFA)
                                  T=0.000011/3 (TOPMED)
                                  HGVS:
                                  NC_000023.11:g.19607985C>T, NC_000023.10:g.19626103C>T, NG_021367.1:g.284642G>A, NM_031892.3:c.958G>A, NM_031892.2:c.958G>A, NM_001024666.3:c.847G>A, NM_001024666.2:c.847G>A, NM_001353891.2:c.1033G>A, NM_001353891.1:c.1033G>A, NM_001353892.2:c.1033G>A, NM_001353892.1:c.1033G>A, NM_001353890.2:c.958G>A, NM_001353890.1:c.958G>A, NM_001353893.2:c.856G>A, NM_001353893.1:c.856G>A, NM_001353895.2:c.913G>A, NM_001353895.1:c.913G>A, NM_001353894.2:c.856G>A, NM_001353894.1:c.856G>A, NM_001184960.2:c.244G>A, NM_001184960.1:c.244G>A, NM_001353897.2:c.244G>A, NM_001353897.1:c.244G>A, XM_011545498.4:c.1090G>A, XM_011545500.4:c.1090G>A, XM_011545499.4:c.979G>A, XM_011545499.3:c.979G>A, XM_011545499.2:c.979G>A, XM_011545499.1:c.979G>A, XM_011545503.4:c.1090G>A, XM_011545503.3:c.1090G>A, XM_011545503.2:c.1090G>A, XM_011545503.1:c.1090G>A, XM_011545502.3:c.295G>A, XM_011545502.2:c.295G>A, XM_011545502.1:c.295G>A, XM_017029467.3:c.910G>A, XM_017029467.2:c.910G>A, XM_017029467.1:c.910G>A, XM_017029468.3:c.835G>A, XM_017029468.2:c.835G>A, XM_017029468.1:c.835G>A, XM_017029460.2:c.967G>A, XM_017029460.1:c.967G>A, XM_017029461.2:c.910G>A, XM_017029461.1:c.910G>A, XM_017029469.2:c.175G>A, XM_017029469.1:c.175G>A, XM_047442050.1:c.295G>A, NM_001410756.1:c.1090G>A, NM_001410757.1:c.1090G>A, XM_047442039.1:c.997G>A, XM_047442041.1:c.913G>A, XM_047442042.1:c.865G>A, XM_047442040.1:c.913G>A, XM_047442043.1:c.835G>A, XM_047442045.1:c.781G>A, XM_047442046.1:c.865G>A, XM_047442044.1:c.781G>A, XM_047442048.1:c.781G>A, XM_047442047.1:c.847G>A, XM_047442049.1:c.781G>A, NM_001410758.1:c.781G>A, NP_114098.1:p.Asp320Asn, NP_001019837.1:p.Asp283Asn, NP_001340820.1:p.Asp345Asn, NP_001340821.1:p.Asp345Asn, NP_001340819.1:p.Asp320Asn, NP_001340822.1:p.Asp286Asn, NP_001340824.1:p.Asp305Asn, NP_001340823.1:p.Asp286Asn, NP_001171889.1:p.Asp82Asn, NP_001340826.1:p.Asp82Asn, XP_011543800.1:p.Asp364Asn, XP_011543802.1:p.Asp364Asn, XP_011543801.1:p.Asp327Asn, XP_011543805.1:p.Asp364Asn, XP_011543804.1:p.Asp99Asn, XP_016884956.1:p.Asp304Asn, XP_016884957.1:p.Asp279Asn, XP_016884949.1:p.Asp323Asn, XP_016884950.1:p.Asp304Asn, XP_016884958.1:p.Asp59Asn, XP_047298006.1:p.Asp99Asn, XP_047297995.1:p.Asp333Asn, XP_047297997.1:p.Asp305Asn, XP_047297998.1:p.Asp289Asn, XP_047297996.1:p.Asp305Asn, XP_047297999.1:p.Asp279Asn, XP_047298001.1:p.Asp261Asn, XP_047298002.1:p.Asp289Asn, XP_047298000.1:p.Asp261Asn, XP_047298004.1:p.Asp261Asn, XP_047298003.1:p.Asp283Asn, XP_047298005.1:p.Asp261Asn

                                  17.

                                  rs1443324251 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    T>C [Show Flanks]
                                    Chromosome:
                                    X:19541977 (GRCh38)
                                    X:19560095 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:19541976:T:C
                                    Gene:
                                    SH3KBP1 (Varview)
                                    Functional Consequence:
                                    coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
                                    Validated:
                                    by frequency,by alfa
                                    MAF:
                                    C=0./0 (ALFA)
                                    C=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000023.11:g.19541977T>C, NC_000023.10:g.19560095T>C, NG_021367.1:g.350650A>G, NM_031892.3:c.1840A>G, NM_031892.2:c.1840A>G, NM_001024666.3:c.1729A>G, NM_001024666.2:c.1729A>G, NM_001353891.2:c.1915A>G, NM_001353891.1:c.1915A>G, NM_001353892.2:c.1786A>G, NM_001353892.1:c.1786A>G, NM_001353890.2:c.1711A>G, NM_001353890.1:c.1711A>G, NM_001353893.2:c.1738A>G, NM_001353893.1:c.1738A>G, NM_001353895.2:c.1666A>G, NM_001353895.1:c.1666A>G, NM_001353894.2:c.1609A>G, NM_001353894.1:c.1609A>G, NM_001184960.2:c.1126A>G, NM_001184960.1:c.1126A>G, NM_001353897.2:c.997A>G, NM_001353897.1:c.997A>G, XM_011545498.4:c.1972A>G, XM_011545500.4:c.1843A>G, XM_011545499.4:c.1861A>G, XM_011545499.3:c.1861A>G, XM_011545499.2:c.1861A>G, XM_011545499.1:c.1861A>G, XM_011545502.3:c.1177A>G, XM_011545502.2:c.1177A>G, XM_011545502.1:c.1177A>G, XM_017029467.3:c.1663A>G, XM_017029467.2:c.1663A>G, XM_017029467.1:c.1663A>G, XM_017029468.3:c.1588A>G, XM_017029468.2:c.1588A>G, XM_017029468.1:c.1588A>G, XM_017029460.2:c.1849A>G, XM_017029460.1:c.1849A>G, XM_017029461.2:c.1792A>G, XM_017029461.1:c.1792A>G, XM_017029469.2:c.1057A>G, XM_017029469.1:c.1057A>G, XM_047442050.1:c.1048A>G, NM_001410756.1:c.1972A>G, NM_001410757.1:c.1843A>G, XM_047442039.1:c.1879A>G, XM_047442041.1:c.1795A>G, XM_047442042.1:c.1747A>G, XM_047442040.1:c.1795A>G, XM_047442043.1:c.1717A>G, XM_047442045.1:c.1663A>G, XM_047442046.1:c.1618A>G, XM_047442044.1:c.1663A>G, XM_047442048.1:c.1534A>G, XM_047442047.1:c.1600A>G, XM_047442049.1:c.1534A>G, NM_001410758.1:c.1534A>G, NP_114098.1:p.Thr614Ala, NP_001019837.1:p.Thr577Ala, NP_001340820.1:p.Thr639Ala, NP_001340821.1:p.Thr596Ala, NP_001340819.1:p.Thr571Ala, NP_001340822.1:p.Thr580Ala, NP_001340824.1:p.Thr556Ala, NP_001340823.1:p.Thr537Ala, NP_001171889.1:p.Thr376Ala, NP_001340826.1:p.Thr333Ala, XP_011543800.1:p.Thr658Ala, XP_011543802.1:p.Thr615Ala, XP_011543801.1:p.Thr621Ala, XP_011543804.1:p.Thr393Ala, XP_016884956.1:p.Thr555Ala, XP_016884957.1:p.Thr530Ala, XP_016884949.1:p.Thr617Ala, XP_016884950.1:p.Thr598Ala, XP_016884958.1:p.Thr353Ala, XP_047298006.1:p.Thr350Ala, XP_047297995.1:p.Thr627Ala, XP_047297997.1:p.Thr599Ala, XP_047297998.1:p.Thr583Ala, XP_047297996.1:p.Thr599Ala, XP_047297999.1:p.Thr573Ala, XP_047298001.1:p.Thr555Ala, XP_047298002.1:p.Thr540Ala, XP_047298000.1:p.Thr555Ala, XP_047298004.1:p.Thr512Ala, XP_047298003.1:p.Thr534Ala, XP_047298005.1:p.Thr512Ala

                                    18.

                                    rs1443276599 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>G [Show Flanks]
                                      Chromosome:
                                      X:19537761 (GRCh38)
                                      X:19555879 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:19537760:A:G
                                      Gene:
                                      SH3KBP1 (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      G=0./0 (ALFA)
                                      G=0.000004/1 (TOPMED)
                                      HGVS:
                                      NC_000023.11:g.19537761A>G, NC_000023.10:g.19555879A>G, NG_021367.1:g.354866T>C, NM_031892.3:c.1912T>C, NM_031892.2:c.1912T>C, NM_001024666.3:c.1801T>C, NM_001024666.2:c.1801T>C, NM_001353891.2:c.1987T>C, NM_001353891.1:c.1987T>C, NM_001353892.2:c.1858T>C, NM_001353892.1:c.1858T>C, NM_001353890.2:c.1783T>C, NM_001353890.1:c.1783T>C, NM_001353893.2:c.1810T>C, NM_001353893.1:c.1810T>C, NM_001353895.2:c.1738T>C, NM_001353895.1:c.1738T>C, NM_001353894.2:c.1681T>C, NM_001353894.1:c.1681T>C, NM_001184960.2:c.1198T>C, NM_001184960.1:c.1198T>C, NM_001353897.2:c.1069T>C, NM_001353897.1:c.1069T>C, XM_011545498.4:c.2044T>C, XM_011545500.4:c.1915T>C, XM_011545499.4:c.1933T>C, XM_011545499.3:c.1933T>C, XM_011545499.2:c.1933T>C, XM_011545499.1:c.1933T>C, XM_011545502.3:c.1249T>C, XM_011545502.2:c.1249T>C, XM_011545502.1:c.1249T>C, XM_017029467.3:c.1735T>C, XM_017029467.2:c.1735T>C, XM_017029467.1:c.1735T>C, XM_017029468.3:c.1660T>C, XM_017029468.2:c.1660T>C, XM_017029468.1:c.1660T>C, XM_017029460.2:c.1921T>C, XM_017029460.1:c.1921T>C, XM_017029461.2:c.1864T>C, XM_017029461.1:c.1864T>C, XM_017029469.2:c.1129T>C, XM_017029469.1:c.1129T>C, XM_047442050.1:c.1120T>C, NM_001410756.1:c.2044T>C, NM_001410757.1:c.1915T>C, XM_047442039.1:c.1951T>C, XM_047442041.1:c.1867T>C, XM_047442042.1:c.1819T>C, XM_047442040.1:c.1867T>C, XM_047442043.1:c.1789T>C, XM_047442045.1:c.1735T>C, XM_047442046.1:c.1690T>C, XM_047442044.1:c.1735T>C, XM_047442048.1:c.1606T>C, XM_047442047.1:c.1672T>C, XM_047442049.1:c.1606T>C, NM_001410758.1:c.1606T>C

                                      19.

                                      rs1440939722 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        X:19645410 (GRCh38)
                                        X:19663528 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:19645409:G:A
                                        Gene:
                                        SH3KBP1 (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_000023.11:g.19645410G>A, NC_000023.10:g.19663528G>A, NG_021367.1:g.247217C>T, NM_031892.3:c.792C>T, NM_031892.2:c.792C>T, NM_001024666.3:c.681C>T, NM_001024666.2:c.681C>T, NM_001353891.2:c.867C>T, NM_001353891.1:c.867C>T, NM_001353892.2:c.867C>T, NM_001353892.1:c.867C>T, NM_001353890.2:c.792C>T, NM_001353890.1:c.792C>T, NM_001353893.2:c.690C>T, NM_001353893.1:c.690C>T, NM_001353895.2:c.747C>T, NM_001353895.1:c.747C>T, NM_001353894.2:c.690C>T, NM_001353894.1:c.690C>T, NM_001184960.2:c.78C>T, NM_001184960.1:c.78C>T, NM_001353897.2:c.78C>T, NM_001353897.1:c.78C>T, XM_011545498.4:c.924C>T, XM_011545500.4:c.924C>T, XM_011545499.4:c.813C>T, XM_011545499.3:c.813C>T, XM_011545499.2:c.813C>T, XM_011545499.1:c.813C>T, XM_011545503.4:c.924C>T, XM_011545503.3:c.924C>T, XM_011545503.2:c.924C>T, XM_011545503.1:c.924C>T, XM_011545502.3:c.129C>T, XM_011545502.2:c.129C>T, XM_011545502.1:c.129C>T, XM_017029467.3:c.744C>T, XM_017029467.2:c.744C>T, XM_017029467.1:c.744C>T, XM_017029468.3:c.669C>T, XM_017029468.2:c.669C>T, XM_017029468.1:c.669C>T, XM_017029460.2:c.801C>T, XM_017029460.1:c.801C>T, XM_017029461.2:c.744C>T, XM_017029461.1:c.744C>T, XM_017029469.2:c.9C>T, XM_017029469.1:c.9C>T, XM_047442050.1:c.129C>T, NM_001410756.1:c.924C>T, NM_001410757.1:c.924C>T, XM_047442039.1:c.831C>T, XM_047442041.1:c.747C>T, XM_047442042.1:c.699C>T, XM_047442040.1:c.747C>T, XM_047442043.1:c.669C>T, XM_047442045.1:c.615C>T, XM_047442046.1:c.699C>T, XM_047442044.1:c.615C>T, XM_047442048.1:c.615C>T, XM_047442047.1:c.681C>T, XM_047442049.1:c.615C>T, NM_001410758.1:c.615C>T

                                        20.

                                        rs1439180647 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          X:19594976 (GRCh38)
                                          X:19613094 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:19594975:A:G
                                          Gene:
                                          SH3KBP1 (Varview)
                                          Functional Consequence:
                                          coding_sequence_variant,missense_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          G=0.000005/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000023.11:g.19594976A>G, NC_000023.10:g.19613094A>G, NG_021367.1:g.297651T>C, NM_031892.3:c.1030T>C, NM_031892.2:c.1030T>C, NM_001024666.3:c.919T>C, NM_001024666.2:c.919T>C, NM_001353891.2:c.1105T>C, NM_001353891.1:c.1105T>C, NM_001353892.2:c.1105T>C, NM_001353892.1:c.1105T>C, NM_001353890.2:c.1030T>C, NM_001353890.1:c.1030T>C, NM_001353893.2:c.928T>C, NM_001353893.1:c.928T>C, NM_001353895.2:c.985T>C, NM_001353895.1:c.985T>C, NM_001353894.2:c.928T>C, NM_001353894.1:c.928T>C, NM_001184960.2:c.316T>C, NM_001184960.1:c.316T>C, NM_001353897.2:c.316T>C, NM_001353897.1:c.316T>C, XM_011545498.4:c.1162T>C, XM_011545500.4:c.1162T>C, XM_011545499.4:c.1051T>C, XM_011545499.3:c.1051T>C, XM_011545499.2:c.1051T>C, XM_011545499.1:c.1051T>C, XM_011545503.4:c.1162T>C, XM_011545503.3:c.1162T>C, XM_011545503.2:c.1162T>C, XM_011545503.1:c.1162T>C, XM_011545502.3:c.367T>C, XM_011545502.2:c.367T>C, XM_011545502.1:c.367T>C, XM_017029467.3:c.982T>C, XM_017029467.2:c.982T>C, XM_017029467.1:c.982T>C, XM_017029468.3:c.907T>C, XM_017029468.2:c.907T>C, XM_017029468.1:c.907T>C, XM_017029460.2:c.1039T>C, XM_017029460.1:c.1039T>C, XM_017029461.2:c.982T>C, XM_017029461.1:c.982T>C, XM_017029469.2:c.247T>C, XM_017029469.1:c.247T>C, XM_047442050.1:c.367T>C, NM_001410756.1:c.1162T>C, NM_001410757.1:c.1162T>C, XM_047442039.1:c.1069T>C, XM_047442041.1:c.985T>C, XM_047442042.1:c.937T>C, XM_047442040.1:c.985T>C, XM_047442043.1:c.907T>C, XM_047442045.1:c.853T>C, XM_047442046.1:c.937T>C, XM_047442044.1:c.853T>C, XM_047442048.1:c.853T>C, XM_047442047.1:c.919T>C, XM_047442049.1:c.853T>C, NM_001410758.1:c.853T>C, NP_114098.1:p.Ser344Pro, NP_001019837.1:p.Ser307Pro, NP_001340820.1:p.Ser369Pro, NP_001340821.1:p.Ser369Pro, NP_001340819.1:p.Ser344Pro, NP_001340822.1:p.Ser310Pro, NP_001340824.1:p.Ser329Pro, NP_001340823.1:p.Ser310Pro, NP_001171889.1:p.Ser106Pro, NP_001340826.1:p.Ser106Pro, XP_011543800.1:p.Ser388Pro, XP_011543802.1:p.Ser388Pro, XP_011543801.1:p.Ser351Pro, XP_011543805.1:p.Ser388Pro, XP_011543804.1:p.Ser123Pro, XP_016884956.1:p.Ser328Pro, XP_016884957.1:p.Ser303Pro, XP_016884949.1:p.Ser347Pro, XP_016884950.1:p.Ser328Pro, XP_016884958.1:p.Ser83Pro, XP_047298006.1:p.Ser123Pro, XP_047297995.1:p.Ser357Pro, XP_047297997.1:p.Ser329Pro, XP_047297998.1:p.Ser313Pro, XP_047297996.1:p.Ser329Pro, XP_047297999.1:p.Ser303Pro, XP_047298001.1:p.Ser285Pro, XP_047298002.1:p.Ser313Pro, XP_047298000.1:p.Ser285Pro, XP_047298004.1:p.Ser285Pro, XP_047298003.1:p.Ser307Pro, XP_047298005.1:p.Ser285Pro

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