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Items: 1 to 20 of 443

1.

rs1488072591 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>A,T [Show Flanks]
    Chromosome:
    7:50605405 (GRCh38)
    7:50673102 (GRCh37)
    Canonical SPDI:
    NC_000007.14:50605404:C:A,NC_000007.14:50605404:C:T
    Gene:
    GRB10 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    A=0.000007/1 (GnomAD)
    HGVS:
    NC_000007.14:g.50605405C>A, NC_000007.14:g.50605405C>T, NC_000007.13:g.50673102C>A, NC_000007.13:g.50673102C>T, NG_012305.2:g.193058G>T, NG_012305.2:g.193058G>A, NM_001350816.3:c.1100G>T, NM_001350816.3:c.1100G>A, NM_001350816.2:c.1256G>T, NM_001350816.2:c.1256G>A, NM_001350816.1:c.1256G>T, NM_001350816.1:c.1256G>A, NM_001001555.3:c.1100G>T, NM_001001555.3:c.1100G>A, NM_001001555.2:c.1100G>T, NM_001001555.2:c.1100G>A, NM_001001550.3:c.1100G>T, NM_001001550.3:c.1100G>A, NM_001001550.2:c.1100G>T, NM_001001550.2:c.1100G>A, NM_001001549.3:c.1136G>T, NM_001001549.3:c.1136G>A, NM_001001549.2:c.1136G>T, NM_001001549.2:c.1136G>A, NM_001350814.2:c.1274G>T, NM_001350814.2:c.1274G>A, NM_001350814.1:c.1274G>T, NM_001350814.1:c.1274G>A, NM_001350815.2:c.1388G>T, NM_001350815.2:c.1388G>A, NM_001350815.1:c.1388G>T, NM_001350815.1:c.1388G>A, NM_001371009.1:c.1421G>T, NM_001371009.1:c.1421G>A, NM_001371008.1:c.1100G>T, NM_001371008.1:c.1100G>A, NM_005311.4:c.1274G>T, NM_005311.4:c.1274G>A, XM_017012029.3:c.1622G>T, XM_017012029.3:c.1622G>A, XM_017012029.2:c.1622G>T, XM_017012029.2:c.1622G>A, XM_017012029.1:c.1622G>T, XM_017012029.1:c.1622G>A, XM_017012030.3:c.1556G>T, XM_017012030.3:c.1556G>A, XM_017012030.2:c.1556G>T, XM_017012030.2:c.1556G>A, XM_017012030.1:c.1556G>T, XM_017012030.1:c.1556G>A, XM_017012031.3:c.1487G>T, XM_017012031.3:c.1487G>A, XM_017012031.2:c.1487G>T, XM_017012031.2:c.1487G>A, XM_017012031.1:c.1487G>T, XM_017012031.1:c.1487G>A, XM_017012061.3:c.1235G>T, XM_017012061.3:c.1235G>A, XM_017012061.2:c.1235G>T, XM_017012061.2:c.1235G>A, XM_017012061.1:c.1235G>T, XM_017012061.1:c.1235G>A, XM_017012062.3:c.1235G>T, XM_017012062.3:c.1235G>A, XM_017012062.2:c.1235G>T, XM_017012062.2:c.1235G>A, XM_017012062.1:c.1235G>T, XM_017012062.1:c.1235G>A, XM_024446726.2:c.1523G>T, XM_024446726.2:c.1523G>A, XM_024446726.1:c.1523G>T, XM_024446726.1:c.1523G>A, XM_017012034.2:c.1409G>T, XM_017012034.2:c.1409G>A, XM_017012034.1:c.1409G>T, XM_017012034.1:c.1409G>A, XM_024446729.2:c.1235G>T, XM_024446729.2:c.1235G>A, XM_024446729.1:c.1235G>T, XM_024446729.1:c.1235G>A, XM_047420254.1:c.1100G>T, XM_047420254.1:c.1100G>A, XM_047420242.1:c.1271G>T, XM_047420242.1:c.1271G>A, XM_047420255.1:c.1100G>T, XM_047420255.1:c.1100G>A, XM_047420253.1:c.1100G>T, XM_047420253.1:c.1100G>A, XM_047420251.1:c.1235G>T, XM_047420251.1:c.1235G>A, XM_047420245.1:c.1235G>T, XM_047420245.1:c.1235G>A, XM_047420234.1:c.1391G>T, XM_047420234.1:c.1391G>A, XM_047420246.1:c.1235G>T, XM_047420246.1:c.1235G>A, XM_047420240.1:c.1391G>T, XM_047420240.1:c.1391G>A, XM_047420247.1:c.1235G>T, XM_047420247.1:c.1235G>A, XM_047420235.1:c.1391G>T, XM_047420235.1:c.1391G>A, XM_047420236.1:c.1391G>T, XM_047420236.1:c.1391G>A, XM_047420244.1:c.1256G>T, XM_047420244.1:c.1256G>A, XM_047420248.1:c.1235G>T, XM_047420248.1:c.1235G>A, XM_047420233.1:c.1391G>T, XM_047420233.1:c.1391G>A, XM_047420249.1:c.1235G>T, XM_047420249.1:c.1235G>A, XM_017012058.1:c.1235G>T, XM_017012058.1:c.1235G>A, XM_047420243.1:c.1256G>T, XM_047420243.1:c.1256G>A, XM_047420238.1:c.1391G>T, XM_047420238.1:c.1391G>A, XM_047420237.1:c.1391G>T, XM_047420237.1:c.1391G>A, XM_047420241.1:c.1274G>T, XM_047420241.1:c.1274G>A, XM_047420232.1:c.1409G>T, XM_047420232.1:c.1409G>A, XM_047420252.1:c.1100G>T, XM_047420252.1:c.1100G>A, XM_047420250.1:c.1235G>T, XM_047420250.1:c.1235G>A, XM_017012045.1:c.1100G>T, XM_017012045.1:c.1100G>A, XM_047420256.1:c.713G>T, XM_047420256.1:c.713G>A, NP_001337745.2:p.Arg367Leu, NP_001337745.2:p.Arg367His, NP_001001555.1:p.Arg367Leu, NP_001001555.1:p.Arg367His, NP_001001550.1:p.Arg367Leu, NP_001001550.1:p.Arg367His, NP_001001549.1:p.Arg379Leu, NP_001001549.1:p.Arg379His, NP_001337743.1:p.Arg425Leu, NP_001337743.1:p.Arg425His, NP_001337744.1:p.Arg463Leu, NP_001337744.1:p.Arg463His, NP_001357938.1:p.Arg474Leu, NP_001357938.1:p.Arg474His, NP_001357937.1:p.Arg367Leu, NP_001357937.1:p.Arg367His, XP_016867518.1:p.Arg541Leu, XP_016867518.1:p.Arg541His, XP_016867519.1:p.Arg519Leu, XP_016867519.1:p.Arg519His, XP_016867520.1:p.Arg496Leu, XP_016867520.1:p.Arg496His, XP_016867550.1:p.Arg412Leu, XP_016867550.1:p.Arg412His, XP_016867551.1:p.Arg412Leu, XP_016867551.1:p.Arg412His, XP_024302494.1:p.Arg508Leu, XP_024302494.1:p.Arg508His, XP_016867523.1:p.Arg470Leu, XP_016867523.1:p.Arg470His, XP_024302497.1:p.Arg412Leu, XP_024302497.1:p.Arg412His, XP_047276210.1:p.Arg367Leu, XP_047276210.1:p.Arg367His, XP_047276198.1:p.Arg424Leu, XP_047276198.1:p.Arg424His, XP_047276211.1:p.Arg367Leu, XP_047276211.1:p.Arg367His, XP_047276209.1:p.Arg367Leu, XP_047276209.1:p.Arg367His, XP_047276207.1:p.Arg412Leu, XP_047276207.1:p.Arg412His, XP_047276201.1:p.Arg412Leu, XP_047276201.1:p.Arg412His, XP_047276190.1:p.Arg464Leu, XP_047276190.1:p.Arg464His, XP_047276202.1:p.Arg412Leu, XP_047276202.1:p.Arg412His, XP_047276196.1:p.Arg464Leu, XP_047276196.1:p.Arg464His, XP_047276203.1:p.Arg412Leu, XP_047276203.1:p.Arg412His, XP_047276191.1:p.Arg464Leu, XP_047276191.1:p.Arg464His, XP_047276192.1:p.Arg464Leu, XP_047276192.1:p.Arg464His, XP_047276200.1:p.Arg419Leu, XP_047276200.1:p.Arg419His, XP_047276204.1:p.Arg412Leu, XP_047276204.1:p.Arg412His, XP_047276189.1:p.Arg464Leu, XP_047276189.1:p.Arg464His, XP_047276205.1:p.Arg412Leu, XP_047276205.1:p.Arg412His, XP_016867547.1:p.Arg412Leu, XP_016867547.1:p.Arg412His, XP_047276199.1:p.Arg419Leu, XP_047276199.1:p.Arg419His, XP_047276194.1:p.Arg464Leu, XP_047276194.1:p.Arg464His, XP_047276193.1:p.Arg464Leu, XP_047276193.1:p.Arg464His, XP_047276197.1:p.Arg425Leu, XP_047276197.1:p.Arg425His, XP_047276188.1:p.Arg470Leu, XP_047276188.1:p.Arg470His, XP_047276208.1:p.Arg367Leu, XP_047276208.1:p.Arg367His, XP_047276206.1:p.Arg412Leu, XP_047276206.1:p.Arg412His, XP_016867534.1:p.Arg367Leu, XP_016867534.1:p.Arg367His, XP_047276212.1:p.Arg238Leu, XP_047276212.1:p.Arg238His

    2.

    rs1486136571 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>G [Show Flanks]
      Chromosome:
      7:50606368 (GRCh38)
      7:50674065 (GRCh37)
      Canonical SPDI:
      NC_000007.14:50606367:T:G
      Gene:
      GRB10 (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency
      MAF:
      G=0.000004/1 (GnomAD_exomes)
      HGVS:
      NC_000007.14:g.50606368T>G, NC_000007.13:g.50674065T>G, NG_012305.2:g.192095A>C, NM_001350816.3:c.1067A>C, NM_001350816.2:c.1223A>C, NM_001350816.1:c.1223A>C, NM_001001555.3:c.1067A>C, NM_001001555.2:c.1067A>C, NM_001001550.3:c.1067A>C, NM_001001550.2:c.1067A>C, NM_001001549.3:c.1103A>C, NM_001001549.2:c.1103A>C, NM_001350814.2:c.1241A>C, NM_001350814.1:c.1241A>C, NM_001350815.2:c.1355A>C, NM_001350815.1:c.1355A>C, NM_001371009.1:c.1388A>C, NM_001371008.1:c.1067A>C, NM_005311.4:c.1241A>C, XM_017012029.3:c.1589A>C, XM_017012029.2:c.1589A>C, XM_017012029.1:c.1589A>C, XM_017012030.3:c.1523A>C, XM_017012030.2:c.1523A>C, XM_017012030.1:c.1523A>C, XM_017012031.3:c.1454A>C, XM_017012031.2:c.1454A>C, XM_017012031.1:c.1454A>C, XM_017012061.3:c.1202A>C, XM_017012061.2:c.1202A>C, XM_017012061.1:c.1202A>C, XM_017012062.3:c.1202A>C, XM_017012062.2:c.1202A>C, XM_017012062.1:c.1202A>C, XM_024446726.2:c.1490A>C, XM_024446726.1:c.1490A>C, XM_017012034.2:c.1376A>C, XM_017012034.1:c.1376A>C, XM_024446729.2:c.1202A>C, XM_024446729.1:c.1202A>C, XM_047420254.1:c.1067A>C, XM_047420242.1:c.1238A>C, XM_047420255.1:c.1067A>C, XM_047420253.1:c.1067A>C, XM_047420251.1:c.1202A>C, XM_047420245.1:c.1202A>C, XM_047420234.1:c.1358A>C, XM_047420246.1:c.1202A>C, XM_047420240.1:c.1358A>C, XM_047420247.1:c.1202A>C, XM_047420235.1:c.1358A>C, XM_047420236.1:c.1358A>C, XM_047420244.1:c.1223A>C, XM_047420248.1:c.1202A>C, XM_047420233.1:c.1358A>C, XM_047420249.1:c.1202A>C, XM_017012058.1:c.1202A>C, XM_047420243.1:c.1223A>C, XM_047420238.1:c.1358A>C, XM_047420237.1:c.1358A>C, XM_047420241.1:c.1241A>C, XM_047420232.1:c.1376A>C, XM_047420252.1:c.1067A>C, XM_047420250.1:c.1202A>C, XM_017012045.1:c.1067A>C, XM_047420256.1:c.680A>C, NP_001337745.2:p.Lys356Thr, NP_001001555.1:p.Lys356Thr, NP_001001550.1:p.Lys356Thr, NP_001001549.1:p.Lys368Thr, NP_001337743.1:p.Lys414Thr, NP_001337744.1:p.Lys452Thr, NP_001357938.1:p.Lys463Thr, NP_001357937.1:p.Lys356Thr, XP_016867518.1:p.Lys530Thr, XP_016867519.1:p.Lys508Thr, XP_016867520.1:p.Lys485Thr, XP_016867550.1:p.Lys401Thr, XP_016867551.1:p.Lys401Thr, XP_024302494.1:p.Lys497Thr, XP_016867523.1:p.Lys459Thr, XP_024302497.1:p.Lys401Thr, XP_047276210.1:p.Lys356Thr, XP_047276198.1:p.Lys413Thr, XP_047276211.1:p.Lys356Thr, XP_047276209.1:p.Lys356Thr, XP_047276207.1:p.Lys401Thr, XP_047276201.1:p.Lys401Thr, XP_047276190.1:p.Lys453Thr, XP_047276202.1:p.Lys401Thr, XP_047276196.1:p.Lys453Thr, XP_047276203.1:p.Lys401Thr, XP_047276191.1:p.Lys453Thr, XP_047276192.1:p.Lys453Thr, XP_047276200.1:p.Lys408Thr, XP_047276204.1:p.Lys401Thr, XP_047276189.1:p.Lys453Thr, XP_047276205.1:p.Lys401Thr, XP_016867547.1:p.Lys401Thr, XP_047276199.1:p.Lys408Thr, XP_047276194.1:p.Lys453Thr, XP_047276193.1:p.Lys453Thr, XP_047276197.1:p.Lys414Thr, XP_047276188.1:p.Lys459Thr, XP_047276208.1:p.Lys356Thr, XP_047276206.1:p.Lys401Thr, XP_016867534.1:p.Lys356Thr, XP_047276212.1:p.Lys227Thr

      3.

      rs1483148511 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        7:50605318 (GRCh38)
        7:50673015 (GRCh37)
        Canonical SPDI:
        NC_000007.14:50605317:G:A
        Gene:
        GRB10 (Varview)
        Functional Consequence:
        missense_variant,coding_sequence_variant
        Validated:
        by frequency
        MAF:
        A=0.000004/1 (GnomAD_exomes)
        HGVS:
        NC_000007.14:g.50605318G>A, NC_000007.13:g.50673015G>A, NG_012305.2:g.193145C>T, NM_001350816.3:c.1187C>T, NM_001350816.2:c.1343C>T, NM_001350816.1:c.1343C>T, NM_001001555.3:c.1187C>T, NM_001001555.2:c.1187C>T, NM_001001550.3:c.1187C>T, NM_001001550.2:c.1187C>T, NM_001001549.3:c.1223C>T, NM_001001549.2:c.1223C>T, NM_001350814.2:c.1361C>T, NM_001350814.1:c.1361C>T, NM_001350815.2:c.1475C>T, NM_001350815.1:c.1475C>T, NM_001371009.1:c.1508C>T, NM_001371008.1:c.1187C>T, NM_005311.4:c.1361C>T, XM_017012029.3:c.1709C>T, XM_017012029.2:c.1709C>T, XM_017012029.1:c.1709C>T, XM_017012030.3:c.1643C>T, XM_017012030.2:c.1643C>T, XM_017012030.1:c.1643C>T, XM_017012031.3:c.1574C>T, XM_017012031.2:c.1574C>T, XM_017012031.1:c.1574C>T, XM_017012061.3:c.1322C>T, XM_017012061.2:c.1322C>T, XM_017012061.1:c.1322C>T, XM_017012062.3:c.1322C>T, XM_017012062.2:c.1322C>T, XM_017012062.1:c.1322C>T, XM_024446726.2:c.1610C>T, XM_024446726.1:c.1610C>T, XM_017012034.2:c.1496C>T, XM_017012034.1:c.1496C>T, XM_024446729.2:c.1322C>T, XM_024446729.1:c.1322C>T, XM_047420254.1:c.1187C>T, XM_047420242.1:c.1358C>T, XM_047420255.1:c.1187C>T, XM_047420253.1:c.1187C>T, XM_047420251.1:c.1322C>T, XM_047420245.1:c.1322C>T, XM_047420234.1:c.1478C>T, XM_047420246.1:c.1322C>T, XM_047420240.1:c.1478C>T, XM_047420247.1:c.1322C>T, XM_047420235.1:c.1478C>T, XM_047420236.1:c.1478C>T, XM_047420244.1:c.1343C>T, XM_047420248.1:c.1322C>T, XM_047420233.1:c.1478C>T, XM_047420249.1:c.1322C>T, XM_017012058.1:c.1322C>T, XM_047420243.1:c.1343C>T, XM_047420238.1:c.1478C>T, XM_047420237.1:c.1478C>T, XM_047420241.1:c.1361C>T, XM_047420232.1:c.1496C>T, XM_047420252.1:c.1187C>T, XM_047420250.1:c.1322C>T, XM_017012045.1:c.1187C>T, XM_047420256.1:c.800C>T, NP_001337745.2:p.Ala396Val, NP_001001555.1:p.Ala396Val, NP_001001550.1:p.Ala396Val, NP_001001549.1:p.Ala408Val, NP_001337743.1:p.Ala454Val, NP_001337744.1:p.Ala492Val, NP_001357938.1:p.Ala503Val, NP_001357937.1:p.Ala396Val, XP_016867518.1:p.Ala570Val, XP_016867519.1:p.Ala548Val, XP_016867520.1:p.Ala525Val, XP_016867550.1:p.Ala441Val, XP_016867551.1:p.Ala441Val, XP_024302494.1:p.Ala537Val, XP_016867523.1:p.Ala499Val, XP_024302497.1:p.Ala441Val, XP_047276210.1:p.Ala396Val, XP_047276198.1:p.Ala453Val, XP_047276211.1:p.Ala396Val, XP_047276209.1:p.Ala396Val, XP_047276207.1:p.Ala441Val, XP_047276201.1:p.Ala441Val, XP_047276190.1:p.Ala493Val, XP_047276202.1:p.Ala441Val, XP_047276196.1:p.Ala493Val, XP_047276203.1:p.Ala441Val, XP_047276191.1:p.Ala493Val, XP_047276192.1:p.Ala493Val, XP_047276200.1:p.Ala448Val, XP_047276204.1:p.Ala441Val, XP_047276189.1:p.Ala493Val, XP_047276205.1:p.Ala441Val, XP_016867547.1:p.Ala441Val, XP_047276199.1:p.Ala448Val, XP_047276194.1:p.Ala493Val, XP_047276193.1:p.Ala493Val, XP_047276197.1:p.Ala454Val, XP_047276188.1:p.Ala499Val, XP_047276208.1:p.Ala396Val, XP_047276206.1:p.Ala441Val, XP_016867534.1:p.Ala396Val, XP_047276212.1:p.Ala267Val

        4.

        rs1482863838 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>T [Show Flanks]
          Chromosome:
          7:50595516 (GRCh38)
          7:50663213 (GRCh37)
          Canonical SPDI:
          NC_000007.14:50595515:C:T
          Gene:
          GRB10 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          HGVS:
          NC_000007.14:g.50595516C>T, NC_000007.13:g.50663213C>T, NG_012305.2:g.202947G>A, NM_001350816.3:c.1385G>A, NM_001350816.2:c.1541G>A, NM_001350816.1:c.1541G>A, NM_001001555.3:c.1385G>A, NM_001001555.2:c.1385G>A, NM_001001550.3:c.1385G>A, NM_001001550.2:c.1385G>A, NM_001001549.3:c.1421G>A, NM_001001549.2:c.1421G>A, NM_001350814.2:c.1559G>A, NM_001350814.1:c.1559G>A, NM_001350815.2:c.1673G>A, NM_001350815.1:c.1673G>A, NM_001371009.1:c.1706G>A, NM_001371008.1:c.1385G>A, NM_005311.4:c.1559G>A, XM_017012029.3:c.1907G>A, XM_017012029.2:c.1907G>A, XM_017012029.1:c.1907G>A, XM_017012030.3:c.1841G>A, XM_017012030.2:c.1841G>A, XM_017012030.1:c.1841G>A, XM_017012031.3:c.1772G>A, XM_017012031.2:c.1772G>A, XM_017012031.1:c.1772G>A, XM_017012061.3:c.1520G>A, XM_017012061.2:c.1520G>A, XM_017012061.1:c.1520G>A, XM_017012062.3:c.1520G>A, XM_017012062.2:c.1520G>A, XM_017012062.1:c.1520G>A, XM_024446726.2:c.1808G>A, XM_024446726.1:c.1808G>A, XM_017012034.2:c.1694G>A, XM_017012034.1:c.1694G>A, XM_024446729.2:c.1520G>A, XM_024446729.1:c.1520G>A, XM_047420254.1:c.1385G>A, XM_047420242.1:c.1556G>A, XM_047420255.1:c.1385G>A, XM_047420253.1:c.1385G>A, XM_047420251.1:c.1520G>A, XM_047420245.1:c.1520G>A, XM_047420234.1:c.1676G>A, XM_047420246.1:c.1520G>A, XM_047420240.1:c.1676G>A, XM_047420247.1:c.1520G>A, XM_047420235.1:c.1676G>A, XM_047420236.1:c.1676G>A, XM_047420244.1:c.1541G>A, XM_047420248.1:c.1520G>A, XM_047420233.1:c.1676G>A, XM_047420249.1:c.1520G>A, XM_017012058.1:c.1520G>A, XM_047420243.1:c.1541G>A, XM_047420238.1:c.1676G>A, XM_047420237.1:c.1676G>A, XM_047420241.1:c.1559G>A, XM_047420232.1:c.1694G>A, XM_047420252.1:c.1385G>A, XM_047420250.1:c.1520G>A, XM_017012045.1:c.1385G>A, XM_047420256.1:c.998G>A, NP_001337745.2:p.Arg462His, NP_001001555.1:p.Arg462His, NP_001001550.1:p.Arg462His, NP_001001549.1:p.Arg474His, NP_001337743.1:p.Arg520His, NP_001337744.1:p.Arg558His, NP_001357938.1:p.Arg569His, NP_001357937.1:p.Arg462His, XP_016867518.1:p.Arg636His, XP_016867519.1:p.Arg614His, XP_016867520.1:p.Arg591His, XP_016867550.1:p.Arg507His, XP_016867551.1:p.Arg507His, XP_024302494.1:p.Arg603His, XP_016867523.1:p.Arg565His, XP_024302497.1:p.Arg507His, XP_047276210.1:p.Arg462His, XP_047276198.1:p.Arg519His, XP_047276211.1:p.Arg462His, XP_047276209.1:p.Arg462His, XP_047276207.1:p.Arg507His, XP_047276201.1:p.Arg507His, XP_047276190.1:p.Arg559His, XP_047276202.1:p.Arg507His, XP_047276196.1:p.Arg559His, XP_047276203.1:p.Arg507His, XP_047276191.1:p.Arg559His, XP_047276192.1:p.Arg559His, XP_047276200.1:p.Arg514His, XP_047276204.1:p.Arg507His, XP_047276189.1:p.Arg559His, XP_047276205.1:p.Arg507His, XP_016867547.1:p.Arg507His, XP_047276199.1:p.Arg514His, XP_047276194.1:p.Arg559His, XP_047276193.1:p.Arg559His, XP_047276197.1:p.Arg520His, XP_047276188.1:p.Arg565His, XP_047276208.1:p.Arg462His, XP_047276206.1:p.Arg507His, XP_016867534.1:p.Arg462His, XP_047276212.1:p.Arg333His

          5.

          rs1477949512 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>C [Show Flanks]
            Chromosome:
            7:50616240 (GRCh38)
            7:50683937 (GRCh37)
            Canonical SPDI:
            NC_000007.14:50616239:G:C
            Gene:
            GRB10 (Varview)
            Functional Consequence:
            intron_variant,coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0./0 (ALFA)
            C=0.000007/1 (GnomAD)
            C=0.000008/2 (TOPMED)
            HGVS:
            NC_000007.14:g.50616240G>C, NC_000007.13:g.50683937G>C, NG_012305.2:g.182223C>G, NM_001350816.3:c.780C>G, NM_001350816.2:c.936C>G, NM_001350816.1:c.936C>G, NM_001001555.3:c.780C>G, NM_001001555.2:c.780C>G, NM_001001550.3:c.780C>G, NM_001001550.2:c.780C>G, NM_001350814.2:c.954C>G, NM_001350814.1:c.954C>G, NM_001350815.2:c.1068C>G, NM_001350815.1:c.1068C>G, NM_001371009.1:c.1101C>G, NM_001371008.1:c.780C>G, NM_005311.4:c.954C>G, XM_017012029.3:c.1302C>G, XM_017012029.2:c.1302C>G, XM_017012029.1:c.1302C>G, XM_017012030.3:c.1236C>G, XM_017012030.2:c.1236C>G, XM_017012030.1:c.1236C>G, XM_017012031.3:c.1167C>G, XM_017012031.2:c.1167C>G, XM_017012031.1:c.1167C>G, XM_017012061.3:c.915C>G, XM_017012061.2:c.915C>G, XM_017012061.1:c.915C>G, XM_017012062.3:c.915C>G, XM_017012062.2:c.915C>G, XM_017012062.1:c.915C>G, XM_024446726.2:c.1203C>G, XM_024446726.1:c.1203C>G, XM_017012034.2:c.1089C>G, XM_017012034.1:c.1089C>G, XM_024446729.2:c.915C>G, XM_024446729.1:c.915C>G, XM_047420254.1:c.780C>G, XM_047420242.1:c.951C>G, XM_047420255.1:c.780C>G, XM_047420253.1:c.780C>G, XM_047420251.1:c.915C>G, XM_047420245.1:c.915C>G, XM_047420234.1:c.1071C>G, XM_047420246.1:c.915C>G, XM_047420240.1:c.1071C>G, XM_047420247.1:c.915C>G, XM_047420235.1:c.1071C>G, XM_047420236.1:c.1071C>G, XM_047420244.1:c.936C>G, XM_047420248.1:c.915C>G, XM_047420233.1:c.1071C>G, XM_047420249.1:c.915C>G, XM_017012058.1:c.915C>G, XM_047420243.1:c.936C>G, XM_047420238.1:c.1071C>G, XM_047420237.1:c.1071C>G, XM_047420241.1:c.954C>G, XM_047420232.1:c.1089C>G, XM_047420252.1:c.780C>G, XM_047420250.1:c.915C>G, XM_017012045.1:c.780C>G, XM_047420256.1:c.393C>G

            6.

            rs1477630287 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>G [Show Flanks]
              Chromosome:
              7:50592980 (GRCh38)
              7:50660677 (GRCh37)
              Canonical SPDI:
              NC_000007.14:50592979:T:G
              Gene:
              GRB10 (Varview)
              Functional Consequence:
              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_000007.14:g.50592980T>G, NC_000007.13:g.50660677T>G, NG_012305.2:g.205483A>C, NM_001350816.3:c.1583A>C, NM_001350816.2:c.1739A>C, NM_001350816.1:c.1739A>C, NM_001001555.3:c.1583A>C, NM_001001555.2:c.1583A>C, NM_001001550.3:c.1583A>C, NM_001001550.2:c.1583A>C, NM_001001549.3:c.1619A>C, NM_001001549.2:c.1619A>C, NM_001350814.2:c.1757A>C, NM_001350814.1:c.1757A>C, NM_001350815.2:c.1871A>C, NM_001350815.1:c.1871A>C, NM_001371009.1:c.1904A>C, NM_001371008.1:c.1583A>C, NM_005311.4:c.1757A>C, XM_017012029.3:c.2105A>C, XM_017012029.2:c.2105A>C, XM_017012029.1:c.2105A>C, XM_017012030.3:c.2039A>C, XM_017012030.2:c.2039A>C, XM_017012030.1:c.2039A>C, XM_017012031.3:c.1970A>C, XM_017012031.2:c.1970A>C, XM_017012031.1:c.1970A>C, XM_017012061.3:c.1718A>C, XM_017012061.2:c.1718A>C, XM_017012061.1:c.1718A>C, XM_017012062.3:c.1718A>C, XM_017012062.2:c.1718A>C, XM_017012062.1:c.1718A>C, XM_024446726.2:c.2006A>C, XM_024446726.1:c.2006A>C, XM_017012034.2:c.1892A>C, XM_017012034.1:c.1892A>C, XM_024446729.2:c.1718A>C, XM_024446729.1:c.1718A>C, XM_047420254.1:c.1583A>C, XM_047420242.1:c.1754A>C, XM_047420255.1:c.1583A>C, XM_047420253.1:c.1583A>C, XM_047420251.1:c.1718A>C, XM_047420245.1:c.1718A>C, XM_047420234.1:c.1874A>C, XM_047420246.1:c.1718A>C, XM_047420240.1:c.1874A>C, XM_047420247.1:c.1718A>C, XM_047420235.1:c.1874A>C, XM_047420236.1:c.1874A>C, XM_047420244.1:c.1739A>C, XM_047420248.1:c.1718A>C, XM_047420233.1:c.1874A>C, XM_047420249.1:c.1718A>C, XM_017012058.1:c.1718A>C, XM_047420243.1:c.1739A>C, XM_047420238.1:c.1874A>C, XM_047420237.1:c.1874A>C, XM_047420241.1:c.1757A>C, XM_047420232.1:c.1892A>C, XM_047420252.1:c.1583A>C, XM_047420250.1:c.1718A>C, XM_017012045.1:c.1583A>C, XM_047420256.1:c.1196A>C, NP_001337745.2:p.Lys528Thr, NP_001001555.1:p.Lys528Thr, NP_001001550.1:p.Lys528Thr, NP_001001549.1:p.Lys540Thr, NP_001337743.1:p.Lys586Thr, NP_001337744.1:p.Lys624Thr, NP_001357938.1:p.Lys635Thr, NP_001357937.1:p.Lys528Thr, XP_016867518.1:p.Lys702Thr, XP_016867519.1:p.Lys680Thr, XP_016867520.1:p.Lys657Thr, XP_016867550.1:p.Lys573Thr, XP_016867551.1:p.Lys573Thr, XP_024302494.1:p.Lys669Thr, XP_016867523.1:p.Lys631Thr, XP_024302497.1:p.Lys573Thr, XP_047276210.1:p.Lys528Thr, XP_047276198.1:p.Lys585Thr, XP_047276211.1:p.Lys528Thr, XP_047276209.1:p.Lys528Thr, XP_047276207.1:p.Lys573Thr, XP_047276201.1:p.Lys573Thr, XP_047276190.1:p.Lys625Thr, XP_047276202.1:p.Lys573Thr, XP_047276196.1:p.Lys625Thr, XP_047276203.1:p.Lys573Thr, XP_047276191.1:p.Lys625Thr, XP_047276192.1:p.Lys625Thr, XP_047276200.1:p.Lys580Thr, XP_047276204.1:p.Lys573Thr, XP_047276189.1:p.Lys625Thr, XP_047276205.1:p.Lys573Thr, XP_016867547.1:p.Lys573Thr, XP_047276199.1:p.Lys580Thr, XP_047276194.1:p.Lys625Thr, XP_047276193.1:p.Lys625Thr, XP_047276197.1:p.Lys586Thr, XP_047276188.1:p.Lys631Thr, XP_047276208.1:p.Lys528Thr, XP_047276206.1:p.Lys573Thr, XP_016867534.1:p.Lys528Thr, XP_047276212.1:p.Lys399Thr

              7.

              rs1477454714 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                T>G [Show Flanks]
                Chromosome:
                7:50604362 (GRCh38)
                7:50672059 (GRCh37)
                Canonical SPDI:
                NC_000007.14:50604361:T:G
                Gene:
                GRB10 (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa
                MAF:
                G=0.000071/1 (ALFA)
                G=0.000007/1 (GnomAD)
                HGVS:
                NC_000007.14:g.50604362T>G, NC_000007.13:g.50672059T>G, NG_012305.2:g.194101A>C, NM_001350816.3:c.1231A>C, NM_001350816.2:c.1387A>C, NM_001350816.1:c.1387A>C, NM_001001555.3:c.1231A>C, NM_001001555.2:c.1231A>C, NM_001001550.3:c.1231A>C, NM_001001550.2:c.1231A>C, NM_001001549.3:c.1267A>C, NM_001001549.2:c.1267A>C, NM_001350814.2:c.1405A>C, NM_001350814.1:c.1405A>C, NM_001350815.2:c.1519A>C, NM_001350815.1:c.1519A>C, NM_001371009.1:c.1552A>C, NM_001371008.1:c.1231A>C, NM_005311.4:c.1405A>C, XM_017012029.3:c.1753A>C, XM_017012029.2:c.1753A>C, XM_017012029.1:c.1753A>C, XM_017012030.3:c.1687A>C, XM_017012030.2:c.1687A>C, XM_017012030.1:c.1687A>C, XM_017012031.3:c.1618A>C, XM_017012031.2:c.1618A>C, XM_017012031.1:c.1618A>C, XM_017012061.3:c.1366A>C, XM_017012061.2:c.1366A>C, XM_017012061.1:c.1366A>C, XM_017012062.3:c.1366A>C, XM_017012062.2:c.1366A>C, XM_017012062.1:c.1366A>C, XM_024446726.2:c.1654A>C, XM_024446726.1:c.1654A>C, XM_017012034.2:c.1540A>C, XM_017012034.1:c.1540A>C, XM_024446729.2:c.1366A>C, XM_024446729.1:c.1366A>C, XM_047420254.1:c.1231A>C, XM_047420242.1:c.1402A>C, XM_047420255.1:c.1231A>C, XM_047420253.1:c.1231A>C, XM_047420251.1:c.1366A>C, XM_047420245.1:c.1366A>C, XM_047420234.1:c.1522A>C, XM_047420246.1:c.1366A>C, XM_047420240.1:c.1522A>C, XM_047420247.1:c.1366A>C, XM_047420235.1:c.1522A>C, XM_047420236.1:c.1522A>C, XM_047420244.1:c.1387A>C, XM_047420248.1:c.1366A>C, XM_047420233.1:c.1522A>C, XM_047420249.1:c.1366A>C, XM_017012058.1:c.1366A>C, XM_047420243.1:c.1387A>C, XM_047420238.1:c.1522A>C, XM_047420237.1:c.1522A>C, XM_047420241.1:c.1405A>C, XM_047420232.1:c.1540A>C, XM_047420252.1:c.1231A>C, XM_047420250.1:c.1366A>C, XM_017012045.1:c.1231A>C, XM_047420256.1:c.844A>C, NP_001337745.2:p.Met411Leu, NP_001001555.1:p.Met411Leu, NP_001001550.1:p.Met411Leu, NP_001001549.1:p.Met423Leu, NP_001337743.1:p.Met469Leu, NP_001337744.1:p.Met507Leu, NP_001357938.1:p.Met518Leu, NP_001357937.1:p.Met411Leu, XP_016867518.1:p.Met585Leu, XP_016867519.1:p.Met563Leu, XP_016867520.1:p.Met540Leu, XP_016867550.1:p.Met456Leu, XP_016867551.1:p.Met456Leu, XP_024302494.1:p.Met552Leu, XP_016867523.1:p.Met514Leu, XP_024302497.1:p.Met456Leu, XP_047276210.1:p.Met411Leu, XP_047276198.1:p.Met468Leu, XP_047276211.1:p.Met411Leu, XP_047276209.1:p.Met411Leu, XP_047276207.1:p.Met456Leu, XP_047276201.1:p.Met456Leu, XP_047276190.1:p.Met508Leu, XP_047276202.1:p.Met456Leu, XP_047276196.1:p.Met508Leu, XP_047276203.1:p.Met456Leu, XP_047276191.1:p.Met508Leu, XP_047276192.1:p.Met508Leu, XP_047276200.1:p.Met463Leu, XP_047276204.1:p.Met456Leu, XP_047276189.1:p.Met508Leu, XP_047276205.1:p.Met456Leu, XP_016867547.1:p.Met456Leu, XP_047276199.1:p.Met463Leu, XP_047276194.1:p.Met508Leu, XP_047276193.1:p.Met508Leu, XP_047276197.1:p.Met469Leu, XP_047276188.1:p.Met514Leu, XP_047276208.1:p.Met411Leu, XP_047276206.1:p.Met456Leu, XP_016867534.1:p.Met411Leu, XP_047276212.1:p.Met282Leu

                8.

                rs1477083539 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>G [Show Flanks]
                  Chromosome:
                  7:50626969 (GRCh38)
                  7:50694666 (GRCh37)
                  Canonical SPDI:
                  NC_000007.14:50626968:C:G
                  Gene:
                  GRB10 (Varview)
                  Functional Consequence:
                  missense_variant,5_prime_UTR_variant,coding_sequence_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  G=0./0 (ALFA)
                  G=0.000007/1 (GnomAD)
                  G=0.000008/2 (TOPMED)
                  HGVS:
                  NC_000007.14:g.50626969C>G, NC_000007.13:g.50694666C>G, NG_012305.2:g.171494G>C, NM_001350816.3:c.340G>C, NM_001350816.2:c.496G>C, NM_001350816.1:c.496G>C, NM_001001555.3:c.340G>C, NM_001001555.2:c.340G>C, NM_001001550.3:c.340G>C, NM_001001550.2:c.340G>C, NM_001001549.3:c.514G>C, NM_001001549.2:c.514G>C, NM_001350814.2:c.514G>C, NM_001350814.1:c.514G>C, NM_001350815.2:c.628G>C, NM_001350815.1:c.628G>C, NM_001371009.1:c.661G>C, NM_001371008.1:c.340G>C, NM_005311.4:c.514G>C, XM_017012029.3:c.862G>C, XM_017012029.2:c.862G>C, XM_017012029.1:c.862G>C, XM_017012030.3:c.796G>C, XM_017012030.2:c.796G>C, XM_017012030.1:c.796G>C, XM_017012031.3:c.727G>C, XM_017012031.2:c.727G>C, XM_017012031.1:c.727G>C, XM_017012061.3:c.475G>C, XM_017012061.2:c.475G>C, XM_017012061.1:c.475G>C, XM_017012062.3:c.475G>C, XM_017012062.2:c.475G>C, XM_017012062.1:c.475G>C, XM_024446726.2:c.763G>C, XM_024446726.1:c.763G>C, XM_017012034.2:c.649G>C, XM_017012034.1:c.649G>C, XM_024446729.2:c.475G>C, XM_024446729.1:c.475G>C, XM_047420254.1:c.340G>C, XM_047420242.1:c.511G>C, XM_047420255.1:c.340G>C, XM_047420253.1:c.340G>C, XM_047420251.1:c.475G>C, XM_047420245.1:c.475G>C, XM_047420234.1:c.631G>C, XM_047420246.1:c.475G>C, XM_047420240.1:c.631G>C, XM_047420247.1:c.475G>C, XM_047420235.1:c.631G>C, XM_047420236.1:c.631G>C, XM_047420244.1:c.496G>C, XM_047420248.1:c.475G>C, XM_047420233.1:c.631G>C, XM_047420249.1:c.475G>C, XM_017012058.1:c.475G>C, XM_047420243.1:c.496G>C, XM_047420238.1:c.631G>C, XM_047420237.1:c.631G>C, XM_047420241.1:c.514G>C, XM_047420232.1:c.649G>C, XM_047420252.1:c.340G>C, XM_047420250.1:c.475G>C, XM_017012045.1:c.340G>C, XM_047420256.1:c.-48G>C, NP_001337745.2:p.Val114Leu, NP_001001555.1:p.Val114Leu, NP_001001550.1:p.Val114Leu, NP_001001549.1:p.Val172Leu, NP_001337743.1:p.Val172Leu, NP_001337744.1:p.Val210Leu, NP_001357938.1:p.Val221Leu, NP_001357937.1:p.Val114Leu, XP_016867518.1:p.Val288Leu, XP_016867519.1:p.Val266Leu, XP_016867520.1:p.Val243Leu, XP_016867550.1:p.Val159Leu, XP_016867551.1:p.Val159Leu, XP_024302494.1:p.Val255Leu, XP_016867523.1:p.Val217Leu, XP_024302497.1:p.Val159Leu, XP_047276210.1:p.Val114Leu, XP_047276198.1:p.Val171Leu, XP_047276211.1:p.Val114Leu, XP_047276209.1:p.Val114Leu, XP_047276207.1:p.Val159Leu, XP_047276201.1:p.Val159Leu, XP_047276190.1:p.Val211Leu, XP_047276202.1:p.Val159Leu, XP_047276196.1:p.Val211Leu, XP_047276203.1:p.Val159Leu, XP_047276191.1:p.Val211Leu, XP_047276192.1:p.Val211Leu, XP_047276200.1:p.Val166Leu, XP_047276204.1:p.Val159Leu, XP_047276189.1:p.Val211Leu, XP_047276205.1:p.Val159Leu, XP_016867547.1:p.Val159Leu, XP_047276199.1:p.Val166Leu, XP_047276194.1:p.Val211Leu, XP_047276193.1:p.Val211Leu, XP_047276197.1:p.Val172Leu, XP_047276188.1:p.Val217Leu, XP_047276208.1:p.Val114Leu, XP_047276206.1:p.Val159Leu, XP_016867534.1:p.Val114Leu

                  9.

                  rs1476319071 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    T>C [Show Flanks]
                    Chromosome:
                    7:50616312 (GRCh38)
                    7:50684009 (GRCh37)
                    Canonical SPDI:
                    NC_000007.14:50616311:T:C
                    Gene:
                    GRB10 (Varview)
                    Functional Consequence:
                    intron_variant,coding_sequence_variant,synonymous_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    C=0./0 (ALFA)
                    C=0.000007/1 (GnomAD)
                    HGVS:
                    NC_000007.14:g.50616312T>C, NC_000007.13:g.50684009T>C, NG_012305.2:g.182151A>G, NM_001350816.3:c.708A>G, NM_001350816.2:c.864A>G, NM_001350816.1:c.864A>G, NM_001001555.3:c.708A>G, NM_001001555.2:c.708A>G, NM_001001550.3:c.708A>G, NM_001001550.2:c.708A>G, NM_001350814.2:c.882A>G, NM_001350814.1:c.882A>G, NM_001350815.2:c.996A>G, NM_001350815.1:c.996A>G, NM_001371009.1:c.1029A>G, NM_001371008.1:c.708A>G, NM_005311.4:c.882A>G, XM_017012029.3:c.1230A>G, XM_017012029.2:c.1230A>G, XM_017012029.1:c.1230A>G, XM_017012030.3:c.1164A>G, XM_017012030.2:c.1164A>G, XM_017012030.1:c.1164A>G, XM_017012031.3:c.1095A>G, XM_017012031.2:c.1095A>G, XM_017012031.1:c.1095A>G, XM_017012061.3:c.843A>G, XM_017012061.2:c.843A>G, XM_017012061.1:c.843A>G, XM_017012062.3:c.843A>G, XM_017012062.2:c.843A>G, XM_017012062.1:c.843A>G, XM_024446726.2:c.1131A>G, XM_024446726.1:c.1131A>G, XM_017012034.2:c.1017A>G, XM_017012034.1:c.1017A>G, XM_024446729.2:c.843A>G, XM_024446729.1:c.843A>G, XM_047420254.1:c.708A>G, XM_047420242.1:c.879A>G, XM_047420255.1:c.708A>G, XM_047420253.1:c.708A>G, XM_047420251.1:c.843A>G, XM_047420245.1:c.843A>G, XM_047420234.1:c.999A>G, XM_047420246.1:c.843A>G, XM_047420240.1:c.999A>G, XM_047420247.1:c.843A>G, XM_047420235.1:c.999A>G, XM_047420236.1:c.999A>G, XM_047420244.1:c.864A>G, XM_047420248.1:c.843A>G, XM_047420233.1:c.999A>G, XM_047420249.1:c.843A>G, XM_017012058.1:c.843A>G, XM_047420243.1:c.864A>G, XM_047420238.1:c.999A>G, XM_047420237.1:c.999A>G, XM_047420241.1:c.882A>G, XM_047420232.1:c.1017A>G, XM_047420252.1:c.708A>G, XM_047420250.1:c.843A>G, XM_017012045.1:c.708A>G, XM_047420256.1:c.321A>G

                    10.

                    rs1473827142 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>A,G [Show Flanks]
                      Chromosome:
                      7:50674531 (GRCh38)
                      7:50742228 (GRCh37)
                      Canonical SPDI:
                      NC_000007.14:50674530:C:A,NC_000007.14:50674530:C:G
                      Gene:
                      GRB10 (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
                      Validated:
                      by frequency,by cluster
                      MAF:
                      G=0.000008/2 (GnomAD_exomes)
                      HGVS:
                      NC_000007.14:g.50674531C>A, NC_000007.14:g.50674531C>G, NC_000007.13:g.50742228C>A, NC_000007.13:g.50742228C>G, NG_012305.2:g.123932G>T, NG_012305.2:g.123932G>C, NM_001350816.3:c.93G>T, NM_001350816.3:c.93G>C, NM_001350816.2:c.249G>T, NM_001350816.2:c.249G>C, NM_001350816.1:c.249G>T, NM_001350816.1:c.249G>C, NM_001001555.3:c.93G>T, NM_001001555.3:c.93G>C, NM_001001555.2:c.93G>T, NM_001001555.2:c.93G>C, NM_001001550.3:c.93G>T, NM_001001550.3:c.93G>C, NM_001001550.2:c.93G>T, NM_001001550.2:c.93G>C, NM_001001549.3:c.267G>T, NM_001001549.3:c.267G>C, NM_001001549.2:c.267G>T, NM_001001549.2:c.267G>C, NM_001350814.2:c.267G>T, NM_001350814.2:c.267G>C, NM_001350814.1:c.267G>T, NM_001350814.1:c.267G>C, NM_001350815.2:c.381G>T, NM_001350815.2:c.381G>C, NM_001350815.1:c.381G>T, NM_001350815.1:c.381G>C, NM_001371009.1:c.414G>T, NM_001371009.1:c.414G>C, NM_001371008.1:c.93G>T, NM_001371008.1:c.93G>C, NM_005311.4:c.267G>T, NM_005311.4:c.267G>C, XM_017012029.3:c.480G>T, XM_017012029.3:c.480G>C, XM_017012029.2:c.480G>T, XM_017012029.2:c.480G>C, XM_017012029.1:c.480G>T, XM_017012029.1:c.480G>C, XM_017012030.3:c.414G>T, XM_017012030.3:c.414G>C, XM_017012030.2:c.414G>T, XM_017012030.2:c.414G>C, XM_017012030.1:c.414G>T, XM_017012030.1:c.414G>C, XM_017012031.3:c.480G>T, XM_017012031.3:c.480G>C, XM_017012031.2:c.480G>T, XM_017012031.2:c.480G>C, XM_017012031.1:c.480G>T, XM_017012031.1:c.480G>C, XM_017012061.3:c.93G>T, XM_017012061.3:c.93G>C, XM_017012061.2:c.93G>T, XM_017012061.2:c.93G>C, XM_017012061.1:c.93G>T, XM_017012061.1:c.93G>C, XM_017012062.3:c.93G>T, XM_017012062.3:c.93G>C, XM_017012062.2:c.93G>T, XM_017012062.2:c.93G>C, XM_017012062.1:c.93G>T, XM_017012062.1:c.93G>C, XM_024446726.2:c.381G>T, XM_024446726.2:c.381G>C, XM_024446726.1:c.381G>T, XM_024446726.1:c.381G>C, XM_017012034.2:c.267G>T, XM_017012034.2:c.267G>C, XM_017012034.1:c.267G>T, XM_017012034.1:c.267G>C, XM_024446729.2:c.93G>T, XM_024446729.2:c.93G>C, XM_024446729.1:c.93G>T, XM_024446729.1:c.93G>C, XM_047420254.1:c.93G>T, XM_047420254.1:c.93G>C, XM_047420242.1:c.264G>T, XM_047420242.1:c.264G>C, XM_047420255.1:c.93G>T, XM_047420255.1:c.93G>C, XM_047420253.1:c.93G>T, XM_047420253.1:c.93G>C, XM_047420251.1:c.93G>T, XM_047420251.1:c.93G>C, XM_047420245.1:c.93G>T, XM_047420245.1:c.93G>C, XM_047420234.1:c.249G>T, XM_047420234.1:c.249G>C, XM_047420246.1:c.93G>T, XM_047420246.1:c.93G>C, XM_047420240.1:c.249G>T, XM_047420240.1:c.249G>C, XM_047420247.1:c.93G>T, XM_047420247.1:c.93G>C, XM_047420235.1:c.249G>T, XM_047420235.1:c.249G>C, XM_047420236.1:c.249G>T, XM_047420236.1:c.249G>C, XM_047420244.1:c.249G>T, XM_047420244.1:c.249G>C, XM_047420248.1:c.93G>T, XM_047420248.1:c.93G>C, XM_047420233.1:c.249G>T, XM_047420233.1:c.249G>C, XM_047420249.1:c.93G>T, XM_047420249.1:c.93G>C, XM_017012058.1:c.93G>T, XM_017012058.1:c.93G>C, XM_047420243.1:c.249G>T, XM_047420243.1:c.249G>C, XM_047420238.1:c.249G>T, XM_047420238.1:c.249G>C, XM_047420237.1:c.249G>T, XM_047420237.1:c.249G>C, XM_047420241.1:c.267G>T, XM_047420241.1:c.267G>C, XM_047420232.1:c.267G>T, XM_047420232.1:c.267G>C, XM_047420252.1:c.93G>T, XM_047420252.1:c.93G>C, XM_047420250.1:c.93G>T, XM_047420250.1:c.93G>C, XM_017012045.1:c.93G>T, XM_017012045.1:c.93G>C, NP_001337745.2:p.Gln31His, NP_001337745.2:p.Gln31His, NP_001001555.1:p.Gln31His, NP_001001555.1:p.Gln31His, NP_001001550.1:p.Gln31His, NP_001001550.1:p.Gln31His, NP_001001549.1:p.Gln89His, NP_001001549.1:p.Gln89His, NP_001337743.1:p.Gln89His, NP_001337743.1:p.Gln89His, NP_001337744.1:p.Gln127His, NP_001337744.1:p.Gln127His, NP_001357938.1:p.Gln138His, NP_001357938.1:p.Gln138His, NP_001357937.1:p.Gln31His, NP_001357937.1:p.Gln31His, XP_016867518.1:p.Gln160His, XP_016867518.1:p.Gln160His, XP_016867519.1:p.Gln138His, XP_016867519.1:p.Gln138His, XP_016867520.1:p.Gln160His, XP_016867520.1:p.Gln160His, XP_016867550.1:p.Gln31His, XP_016867550.1:p.Gln31His, XP_016867551.1:p.Gln31His, XP_016867551.1:p.Gln31His, XP_024302494.1:p.Gln127His, XP_024302494.1:p.Gln127His, XP_016867523.1:p.Gln89His, XP_016867523.1:p.Gln89His, XP_024302497.1:p.Gln31His, XP_024302497.1:p.Gln31His, XP_047276210.1:p.Gln31His, XP_047276210.1:p.Gln31His, XP_047276198.1:p.Gln88His, XP_047276198.1:p.Gln88His, XP_047276211.1:p.Gln31His, XP_047276211.1:p.Gln31His, XP_047276209.1:p.Gln31His, XP_047276209.1:p.Gln31His, XP_047276207.1:p.Gln31His, XP_047276207.1:p.Gln31His, XP_047276201.1:p.Gln31His, XP_047276201.1:p.Gln31His, XP_047276190.1:p.Gln83His, XP_047276190.1:p.Gln83His, XP_047276202.1:p.Gln31His, XP_047276202.1:p.Gln31His, XP_047276196.1:p.Gln83His, XP_047276196.1:p.Gln83His, XP_047276203.1:p.Gln31His, XP_047276203.1:p.Gln31His, XP_047276191.1:p.Gln83His, XP_047276191.1:p.Gln83His, XP_047276192.1:p.Gln83His, XP_047276192.1:p.Gln83His, XP_047276200.1:p.Gln83His, XP_047276200.1:p.Gln83His, XP_047276204.1:p.Gln31His, XP_047276204.1:p.Gln31His, XP_047276189.1:p.Gln83His, XP_047276189.1:p.Gln83His, XP_047276205.1:p.Gln31His, XP_047276205.1:p.Gln31His, XP_016867547.1:p.Gln31His, XP_016867547.1:p.Gln31His, XP_047276199.1:p.Gln83His, XP_047276199.1:p.Gln83His, XP_047276194.1:p.Gln83His, XP_047276194.1:p.Gln83His, XP_047276193.1:p.Gln83His, XP_047276193.1:p.Gln83His, XP_047276197.1:p.Gln89His, XP_047276197.1:p.Gln89His, XP_047276188.1:p.Gln89His, XP_047276188.1:p.Gln89His, XP_047276208.1:p.Gln31His, XP_047276208.1:p.Gln31His, XP_047276206.1:p.Gln31His, XP_047276206.1:p.Gln31His, XP_016867534.1:p.Gln31His, XP_016867534.1:p.Gln31His

                      11.

                      rs1471697984 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>T [Show Flanks]
                        Chromosome:
                        7:50619190 (GRCh38)
                        7:50686887 (GRCh37)
                        Canonical SPDI:
                        NC_000007.14:50619189:C:T
                        Gene:
                        GRB10 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        T=0./0 (ALFA)
                        T=0.000004/1 (TOPMED)
                        T=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000007.14:g.50619190C>T, NC_000007.13:g.50686887C>T, NG_012305.2:g.179273G>A, NM_001350816.3:c.583G>A, NM_001350816.2:c.739G>A, NM_001350816.1:c.739G>A, NM_001001555.3:c.583G>A, NM_001001555.2:c.583G>A, NM_001001550.3:c.583G>A, NM_001001550.2:c.583G>A, NM_001001549.3:c.757G>A, NM_001001549.2:c.757G>A, NM_001350814.2:c.757G>A, NM_001350814.1:c.757G>A, NM_001350815.2:c.871G>A, NM_001350815.1:c.871G>A, NM_001371009.1:c.904G>A, NM_001371008.1:c.583G>A, NM_005311.4:c.757G>A, XM_017012029.3:c.1105G>A, XM_017012029.2:c.1105G>A, XM_017012029.1:c.1105G>A, XM_017012030.3:c.1039G>A, XM_017012030.2:c.1039G>A, XM_017012030.1:c.1039G>A, XM_017012031.3:c.970G>A, XM_017012031.2:c.970G>A, XM_017012031.1:c.970G>A, XM_017012061.3:c.718G>A, XM_017012061.2:c.718G>A, XM_017012061.1:c.718G>A, XM_017012062.3:c.718G>A, XM_017012062.2:c.718G>A, XM_017012062.1:c.718G>A, XM_024446726.2:c.1006G>A, XM_024446726.1:c.1006G>A, XM_017012034.2:c.892G>A, XM_017012034.1:c.892G>A, XM_024446729.2:c.718G>A, XM_024446729.1:c.718G>A, XM_047420254.1:c.583G>A, XM_047420242.1:c.754G>A, XM_047420255.1:c.583G>A, XM_047420253.1:c.583G>A, XM_047420251.1:c.718G>A, XM_047420245.1:c.718G>A, XM_047420234.1:c.874G>A, XM_047420246.1:c.718G>A, XM_047420240.1:c.874G>A, XM_047420247.1:c.718G>A, XM_047420235.1:c.874G>A, XM_047420236.1:c.874G>A, XM_047420244.1:c.739G>A, XM_047420248.1:c.718G>A, XM_047420233.1:c.874G>A, XM_047420249.1:c.718G>A, XM_017012058.1:c.718G>A, XM_047420243.1:c.739G>A, XM_047420238.1:c.874G>A, XM_047420237.1:c.874G>A, XM_047420241.1:c.757G>A, XM_047420232.1:c.892G>A, XM_047420252.1:c.583G>A, XM_047420250.1:c.718G>A, XM_017012045.1:c.583G>A, XM_047420256.1:c.196G>A, NP_001337745.2:p.Glu195Lys, NP_001001555.1:p.Glu195Lys, NP_001001550.1:p.Glu195Lys, NP_001001549.1:p.Glu253Lys, NP_001337743.1:p.Glu253Lys, NP_001337744.1:p.Glu291Lys, NP_001357938.1:p.Glu302Lys, NP_001357937.1:p.Glu195Lys, XP_016867518.1:p.Glu369Lys, XP_016867519.1:p.Glu347Lys, XP_016867520.1:p.Glu324Lys, XP_016867550.1:p.Glu240Lys, XP_016867551.1:p.Glu240Lys, XP_024302494.1:p.Glu336Lys, XP_016867523.1:p.Glu298Lys, XP_024302497.1:p.Glu240Lys, XP_047276210.1:p.Glu195Lys, XP_047276198.1:p.Glu252Lys, XP_047276211.1:p.Glu195Lys, XP_047276209.1:p.Glu195Lys, XP_047276207.1:p.Glu240Lys, XP_047276201.1:p.Glu240Lys, XP_047276190.1:p.Glu292Lys, XP_047276202.1:p.Glu240Lys, XP_047276196.1:p.Glu292Lys, XP_047276203.1:p.Glu240Lys, XP_047276191.1:p.Glu292Lys, XP_047276192.1:p.Glu292Lys, XP_047276200.1:p.Glu247Lys, XP_047276204.1:p.Glu240Lys, XP_047276189.1:p.Glu292Lys, XP_047276205.1:p.Glu240Lys, XP_016867547.1:p.Glu240Lys, XP_047276199.1:p.Glu247Lys, XP_047276194.1:p.Glu292Lys, XP_047276193.1:p.Glu292Lys, XP_047276197.1:p.Glu253Lys, XP_047276188.1:p.Glu298Lys, XP_047276208.1:p.Glu195Lys, XP_047276206.1:p.Glu240Lys, XP_016867534.1:p.Glu195Lys, XP_047276212.1:p.Glu66Lys

                        12.

                        rs1471009975 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          G>A [Show Flanks]
                          Chromosome:
                          7:50674581 (GRCh38)
                          7:50742278 (GRCh37)
                          Canonical SPDI:
                          NC_000007.14:50674580:G:A
                          Gene:
                          GRB10 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,stop_gained,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa
                          MAF:
                          A=0./0 (ALFA)
                          A=0.000004/1 (TOPMED)
                          HGVS:
                          NC_000007.14:g.50674581G>A, NC_000007.13:g.50742278G>A, NG_012305.2:g.123882C>T, NM_001350816.3:c.43C>T, NM_001350816.2:c.199C>T, NM_001350816.1:c.199C>T, NM_001001555.3:c.43C>T, NM_001001555.2:c.43C>T, NM_001001550.3:c.43C>T, NM_001001550.2:c.43C>T, NM_001001549.3:c.217C>T, NM_001001549.2:c.217C>T, NM_001350814.2:c.217C>T, NM_001350814.1:c.217C>T, NM_001350815.2:c.331C>T, NM_001350815.1:c.331C>T, NM_001371009.1:c.364C>T, NM_001371008.1:c.43C>T, NM_005311.4:c.217C>T, XM_017012029.3:c.430C>T, XM_017012029.2:c.430C>T, XM_017012029.1:c.430C>T, XM_017012030.3:c.364C>T, XM_017012030.2:c.364C>T, XM_017012030.1:c.364C>T, XM_017012031.3:c.430C>T, XM_017012031.2:c.430C>T, XM_017012031.1:c.430C>T, XM_017012061.3:c.43C>T, XM_017012061.2:c.43C>T, XM_017012061.1:c.43C>T, XM_017012062.3:c.43C>T, XM_017012062.2:c.43C>T, XM_017012062.1:c.43C>T, XM_024446726.2:c.331C>T, XM_024446726.1:c.331C>T, XM_017012034.2:c.217C>T, XM_017012034.1:c.217C>T, XM_024446729.2:c.43C>T, XM_024446729.1:c.43C>T, XM_047420254.1:c.43C>T, XM_047420242.1:c.214C>T, XM_047420255.1:c.43C>T, XM_047420253.1:c.43C>T, XM_047420251.1:c.43C>T, XM_047420245.1:c.43C>T, XM_047420234.1:c.199C>T, XM_047420246.1:c.43C>T, XM_047420240.1:c.199C>T, XM_047420247.1:c.43C>T, XM_047420235.1:c.199C>T, XM_047420236.1:c.199C>T, XM_047420244.1:c.199C>T, XM_047420248.1:c.43C>T, XM_047420233.1:c.199C>T, XM_047420249.1:c.43C>T, XM_017012058.1:c.43C>T, XM_047420243.1:c.199C>T, XM_047420238.1:c.199C>T, XM_047420237.1:c.199C>T, XM_047420241.1:c.217C>T, XM_047420232.1:c.217C>T, XM_047420252.1:c.43C>T, XM_047420250.1:c.43C>T, XM_017012045.1:c.43C>T, NP_001337745.2:p.Gln15Ter, NP_001001555.1:p.Gln15Ter, NP_001001550.1:p.Gln15Ter, NP_001001549.1:p.Gln73Ter, NP_001337743.1:p.Gln73Ter, NP_001337744.1:p.Gln111Ter, NP_001357938.1:p.Gln122Ter, NP_001357937.1:p.Gln15Ter, XP_016867518.1:p.Gln144Ter, XP_016867519.1:p.Gln122Ter, XP_016867520.1:p.Gln144Ter, XP_016867550.1:p.Gln15Ter, XP_016867551.1:p.Gln15Ter, XP_024302494.1:p.Gln111Ter, XP_016867523.1:p.Gln73Ter, XP_024302497.1:p.Gln15Ter, XP_047276210.1:p.Gln15Ter, XP_047276198.1:p.Gln72Ter, XP_047276211.1:p.Gln15Ter, XP_047276209.1:p.Gln15Ter, XP_047276207.1:p.Gln15Ter, XP_047276201.1:p.Gln15Ter, XP_047276190.1:p.Gln67Ter, XP_047276202.1:p.Gln15Ter, XP_047276196.1:p.Gln67Ter, XP_047276203.1:p.Gln15Ter, XP_047276191.1:p.Gln67Ter, XP_047276192.1:p.Gln67Ter, XP_047276200.1:p.Gln67Ter, XP_047276204.1:p.Gln15Ter, XP_047276189.1:p.Gln67Ter, XP_047276205.1:p.Gln15Ter, XP_016867547.1:p.Gln15Ter, XP_047276199.1:p.Gln67Ter, XP_047276194.1:p.Gln67Ter, XP_047276193.1:p.Gln67Ter, XP_047276197.1:p.Gln73Ter, XP_047276188.1:p.Gln73Ter, XP_047276208.1:p.Gln15Ter, XP_047276206.1:p.Gln15Ter, XP_016867534.1:p.Gln15Ter

                          13.

                          rs1470561576 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>G [Show Flanks]
                            Chromosome:
                            7:50626860 (GRCh38)
                            7:50694557 (GRCh37)
                            Canonical SPDI:
                            NC_000007.14:50626859:C:G
                            Gene:
                            GRB10 (Varview)
                            Functional Consequence:
                            missense_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            G=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000007.14:g.50626860C>G, NC_000007.13:g.50694557C>G, NG_012305.2:g.171603G>C, NM_001350816.3:c.449G>C, NM_001350816.2:c.605G>C, NM_001350816.1:c.605G>C, NM_001001555.3:c.449G>C, NM_001001555.2:c.449G>C, NM_001001550.3:c.449G>C, NM_001001550.2:c.449G>C, NM_001001549.3:c.623G>C, NM_001001549.2:c.623G>C, NM_001350814.2:c.623G>C, NM_001350814.1:c.623G>C, NM_001350815.2:c.737G>C, NM_001350815.1:c.737G>C, NM_001371009.1:c.770G>C, NM_001371008.1:c.449G>C, NM_005311.4:c.623G>C, XM_017012029.3:c.971G>C, XM_017012029.2:c.971G>C, XM_017012029.1:c.971G>C, XM_017012030.3:c.905G>C, XM_017012030.2:c.905G>C, XM_017012030.1:c.905G>C, XM_017012031.3:c.836G>C, XM_017012031.2:c.836G>C, XM_017012031.1:c.836G>C, XM_017012061.3:c.584G>C, XM_017012061.2:c.584G>C, XM_017012061.1:c.584G>C, XM_017012062.3:c.584G>C, XM_017012062.2:c.584G>C, XM_017012062.1:c.584G>C, XM_024446726.2:c.872G>C, XM_024446726.1:c.872G>C, XM_017012034.2:c.758G>C, XM_017012034.1:c.758G>C, XM_024446729.2:c.584G>C, XM_024446729.1:c.584G>C, XM_047420254.1:c.449G>C, XM_047420242.1:c.620G>C, XM_047420255.1:c.449G>C, XM_047420253.1:c.449G>C, XM_047420251.1:c.584G>C, XM_047420245.1:c.584G>C, XM_047420234.1:c.740G>C, XM_047420246.1:c.584G>C, XM_047420240.1:c.740G>C, XM_047420247.1:c.584G>C, XM_047420235.1:c.740G>C, XM_047420236.1:c.740G>C, XM_047420244.1:c.605G>C, XM_047420248.1:c.584G>C, XM_047420233.1:c.740G>C, XM_047420249.1:c.584G>C, XM_017012058.1:c.584G>C, XM_047420243.1:c.605G>C, XM_047420238.1:c.740G>C, XM_047420237.1:c.740G>C, XM_047420241.1:c.623G>C, XM_047420232.1:c.758G>C, XM_047420252.1:c.449G>C, XM_047420250.1:c.584G>C, XM_017012045.1:c.449G>C, XM_047420256.1:c.62G>C, NP_001337745.2:p.Ser150Thr, NP_001001555.1:p.Ser150Thr, NP_001001550.1:p.Ser150Thr, NP_001001549.1:p.Ser208Thr, NP_001337743.1:p.Ser208Thr, NP_001337744.1:p.Ser246Thr, NP_001357938.1:p.Ser257Thr, NP_001357937.1:p.Ser150Thr, XP_016867518.1:p.Ser324Thr, XP_016867519.1:p.Ser302Thr, XP_016867520.1:p.Ser279Thr, XP_016867550.1:p.Ser195Thr, XP_016867551.1:p.Ser195Thr, XP_024302494.1:p.Ser291Thr, XP_016867523.1:p.Ser253Thr, XP_024302497.1:p.Ser195Thr, XP_047276210.1:p.Ser150Thr, XP_047276198.1:p.Ser207Thr, XP_047276211.1:p.Ser150Thr, XP_047276209.1:p.Ser150Thr, XP_047276207.1:p.Ser195Thr, XP_047276201.1:p.Ser195Thr, XP_047276190.1:p.Ser247Thr, XP_047276202.1:p.Ser195Thr, XP_047276196.1:p.Ser247Thr, XP_047276203.1:p.Ser195Thr, XP_047276191.1:p.Ser247Thr, XP_047276192.1:p.Ser247Thr, XP_047276200.1:p.Ser202Thr, XP_047276204.1:p.Ser195Thr, XP_047276189.1:p.Ser247Thr, XP_047276205.1:p.Ser195Thr, XP_016867547.1:p.Ser195Thr, XP_047276199.1:p.Ser202Thr, XP_047276194.1:p.Ser247Thr, XP_047276193.1:p.Ser247Thr, XP_047276197.1:p.Ser208Thr, XP_047276188.1:p.Ser253Thr, XP_047276208.1:p.Ser150Thr, XP_047276206.1:p.Ser195Thr, XP_016867534.1:p.Ser150Thr, XP_047276212.1:p.Ser21Thr

                            14.

                            rs1470171257 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              G>C [Show Flanks]
                              Chromosome:
                              7:50612757 (GRCh38)
                              7:50680454 (GRCh37)
                              Canonical SPDI:
                              NC_000007.14:50612756:G:C
                              Gene:
                              GRB10 (Varview)
                              Functional Consequence:
                              missense_variant,coding_sequence_variant
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              C=0./0 (ALFA)
                              C=0.000004/1 (GnomAD_exomes)
                              C=0.000008/2 (TOPMED)
                              HGVS:
                              NC_000007.14:g.50612757G>C, NC_000007.13:g.50680454G>C, NG_012305.2:g.185706C>G, NM_001350816.3:c.1004C>G, NM_001350816.2:c.1160C>G, NM_001350816.1:c.1160C>G, NM_001001555.3:c.1004C>G, NM_001001555.2:c.1004C>G, NM_001001550.3:c.1004C>G, NM_001001550.2:c.1004C>G, NM_001001549.3:c.1040C>G, NM_001001549.2:c.1040C>G, NM_001350814.2:c.1178C>G, NM_001350814.1:c.1178C>G, NM_001350815.2:c.1292C>G, NM_001350815.1:c.1292C>G, NM_001371009.1:c.1325C>G, NM_001371008.1:c.1004C>G, NM_005311.4:c.1178C>G, XM_017012029.3:c.1526C>G, XM_017012029.2:c.1526C>G, XM_017012029.1:c.1526C>G, XM_017012030.3:c.1460C>G, XM_017012030.2:c.1460C>G, XM_017012030.1:c.1460C>G, XM_017012031.3:c.1391C>G, XM_017012031.2:c.1391C>G, XM_017012031.1:c.1391C>G, XM_017012061.3:c.1139C>G, XM_017012061.2:c.1139C>G, XM_017012061.1:c.1139C>G, XM_017012062.3:c.1139C>G, XM_017012062.2:c.1139C>G, XM_017012062.1:c.1139C>G, XM_024446726.2:c.1427C>G, XM_024446726.1:c.1427C>G, XM_017012034.2:c.1313C>G, XM_017012034.1:c.1313C>G, XM_024446729.2:c.1139C>G, XM_024446729.1:c.1139C>G, XM_047420254.1:c.1004C>G, XM_047420242.1:c.1175C>G, XM_047420255.1:c.1004C>G, XM_047420253.1:c.1004C>G, XM_047420251.1:c.1139C>G, XM_047420245.1:c.1139C>G, XM_047420234.1:c.1295C>G, XM_047420246.1:c.1139C>G, XM_047420240.1:c.1295C>G, XM_047420247.1:c.1139C>G, XM_047420235.1:c.1295C>G, XM_047420236.1:c.1295C>G, XM_047420244.1:c.1160C>G, XM_047420248.1:c.1139C>G, XM_047420233.1:c.1295C>G, XM_047420249.1:c.1139C>G, XM_017012058.1:c.1139C>G, XM_047420243.1:c.1160C>G, XM_047420238.1:c.1295C>G, XM_047420237.1:c.1295C>G, XM_047420241.1:c.1178C>G, XM_047420232.1:c.1313C>G, XM_047420252.1:c.1004C>G, XM_047420250.1:c.1139C>G, XM_017012045.1:c.1004C>G, XM_047420256.1:c.617C>G, NP_001337745.2:p.Ala335Gly, NP_001001555.1:p.Ala335Gly, NP_001001550.1:p.Ala335Gly, NP_001001549.1:p.Ala347Gly, NP_001337743.1:p.Ala393Gly, NP_001337744.1:p.Ala431Gly, NP_001357938.1:p.Ala442Gly, NP_001357937.1:p.Ala335Gly, XP_016867518.1:p.Ala509Gly, XP_016867519.1:p.Ala487Gly, XP_016867520.1:p.Ala464Gly, XP_016867550.1:p.Ala380Gly, XP_016867551.1:p.Ala380Gly, XP_024302494.1:p.Ala476Gly, XP_016867523.1:p.Ala438Gly, XP_024302497.1:p.Ala380Gly, XP_047276210.1:p.Ala335Gly, XP_047276198.1:p.Ala392Gly, XP_047276211.1:p.Ala335Gly, XP_047276209.1:p.Ala335Gly, XP_047276207.1:p.Ala380Gly, XP_047276201.1:p.Ala380Gly, XP_047276190.1:p.Ala432Gly, XP_047276202.1:p.Ala380Gly, XP_047276196.1:p.Ala432Gly, XP_047276203.1:p.Ala380Gly, XP_047276191.1:p.Ala432Gly, XP_047276192.1:p.Ala432Gly, XP_047276200.1:p.Ala387Gly, XP_047276204.1:p.Ala380Gly, XP_047276189.1:p.Ala432Gly, XP_047276205.1:p.Ala380Gly, XP_016867547.1:p.Ala380Gly, XP_047276199.1:p.Ala387Gly, XP_047276194.1:p.Ala432Gly, XP_047276193.1:p.Ala432Gly, XP_047276197.1:p.Ala393Gly, XP_047276188.1:p.Ala438Gly, XP_047276208.1:p.Ala335Gly, XP_047276206.1:p.Ala380Gly, XP_016867534.1:p.Ala335Gly, XP_047276212.1:p.Ala206Gly

                              15.

                              rs1468580065 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                7:50619235 (GRCh38)
                                7:50686932 (GRCh37)
                                Canonical SPDI:
                                NC_000007.14:50619234:C:T
                                Gene:
                                GRB10 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Validated:
                                by frequency
                                MAF:
                                T=0.000012/3 (GnomAD_exomes)
                                HGVS:
                                NC_000007.14:g.50619235C>T, NC_000007.13:g.50686932C>T, NG_012305.2:g.179228G>A, NM_001350816.3:c.538G>A, NM_001350816.2:c.694G>A, NM_001350816.1:c.694G>A, NM_001001555.3:c.538G>A, NM_001001555.2:c.538G>A, NM_001001550.3:c.538G>A, NM_001001550.2:c.538G>A, NM_001001549.3:c.712G>A, NM_001001549.2:c.712G>A, NM_001350814.2:c.712G>A, NM_001350814.1:c.712G>A, NM_001350815.2:c.826G>A, NM_001350815.1:c.826G>A, NM_001371009.1:c.859G>A, NM_001371008.1:c.538G>A, NM_005311.4:c.712G>A, XM_017012029.3:c.1060G>A, XM_017012029.2:c.1060G>A, XM_017012029.1:c.1060G>A, XM_017012030.3:c.994G>A, XM_017012030.2:c.994G>A, XM_017012030.1:c.994G>A, XM_017012031.3:c.925G>A, XM_017012031.2:c.925G>A, XM_017012031.1:c.925G>A, XM_017012061.3:c.673G>A, XM_017012061.2:c.673G>A, XM_017012061.1:c.673G>A, XM_017012062.3:c.673G>A, XM_017012062.2:c.673G>A, XM_017012062.1:c.673G>A, XM_024446726.2:c.961G>A, XM_024446726.1:c.961G>A, XM_017012034.2:c.847G>A, XM_017012034.1:c.847G>A, XM_024446729.2:c.673G>A, XM_024446729.1:c.673G>A, XM_047420254.1:c.538G>A, XM_047420242.1:c.709G>A, XM_047420255.1:c.538G>A, XM_047420253.1:c.538G>A, XM_047420251.1:c.673G>A, XM_047420245.1:c.673G>A, XM_047420234.1:c.829G>A, XM_047420246.1:c.673G>A, XM_047420240.1:c.829G>A, XM_047420247.1:c.673G>A, XM_047420235.1:c.829G>A, XM_047420236.1:c.829G>A, XM_047420244.1:c.694G>A, XM_047420248.1:c.673G>A, XM_047420233.1:c.829G>A, XM_047420249.1:c.673G>A, XM_017012058.1:c.673G>A, XM_047420243.1:c.694G>A, XM_047420238.1:c.829G>A, XM_047420237.1:c.829G>A, XM_047420241.1:c.712G>A, XM_047420232.1:c.847G>A, XM_047420252.1:c.538G>A, XM_047420250.1:c.673G>A, XM_017012045.1:c.538G>A, XM_047420256.1:c.151G>A, NP_001337745.2:p.Ala180Thr, NP_001001555.1:p.Ala180Thr, NP_001001550.1:p.Ala180Thr, NP_001001549.1:p.Ala238Thr, NP_001337743.1:p.Ala238Thr, NP_001337744.1:p.Ala276Thr, NP_001357938.1:p.Ala287Thr, NP_001357937.1:p.Ala180Thr, XP_016867518.1:p.Ala354Thr, XP_016867519.1:p.Ala332Thr, XP_016867520.1:p.Ala309Thr, XP_016867550.1:p.Ala225Thr, XP_016867551.1:p.Ala225Thr, XP_024302494.1:p.Ala321Thr, XP_016867523.1:p.Ala283Thr, XP_024302497.1:p.Ala225Thr, XP_047276210.1:p.Ala180Thr, XP_047276198.1:p.Ala237Thr, XP_047276211.1:p.Ala180Thr, XP_047276209.1:p.Ala180Thr, XP_047276207.1:p.Ala225Thr, XP_047276201.1:p.Ala225Thr, XP_047276190.1:p.Ala277Thr, XP_047276202.1:p.Ala225Thr, XP_047276196.1:p.Ala277Thr, XP_047276203.1:p.Ala225Thr, XP_047276191.1:p.Ala277Thr, XP_047276192.1:p.Ala277Thr, XP_047276200.1:p.Ala232Thr, XP_047276204.1:p.Ala225Thr, XP_047276189.1:p.Ala277Thr, XP_047276205.1:p.Ala225Thr, XP_016867547.1:p.Ala225Thr, XP_047276199.1:p.Ala232Thr, XP_047276194.1:p.Ala277Thr, XP_047276193.1:p.Ala277Thr, XP_047276197.1:p.Ala238Thr, XP_047276188.1:p.Ala283Thr, XP_047276208.1:p.Ala180Thr, XP_047276206.1:p.Ala225Thr, XP_016867534.1:p.Ala180Thr, XP_047276212.1:p.Ala51Thr

                                16.

                                rs1465866333 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>A [Show Flanks]
                                  Chromosome:
                                  7:50674602 (GRCh38)
                                  7:50742299 (GRCh37)
                                  Canonical SPDI:
                                  NC_000007.14:50674601:G:A
                                  Gene:
                                  GRB10 (Varview)
                                  Functional Consequence:
                                  synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
                                  Validated:
                                  by frequency
                                  MAF:
                                  A=0.000004/1 (GnomAD_exomes)
                                  HGVS:
                                  NC_000007.14:g.50674602G>A, NC_000007.13:g.50742299G>A, NG_012305.2:g.123861C>T, NM_001350816.3:c.22C>T, NM_001350816.2:c.178C>T, NM_001350816.1:c.178C>T, NM_001001555.3:c.22C>T, NM_001001555.2:c.22C>T, NM_001001550.3:c.22C>T, NM_001001550.2:c.22C>T, NM_001001549.3:c.196C>T, NM_001001549.2:c.196C>T, NM_001350814.2:c.196C>T, NM_001350814.1:c.196C>T, NM_001350815.2:c.310C>T, NM_001350815.1:c.310C>T, NM_001371009.1:c.343C>T, NM_001371008.1:c.22C>T, NM_005311.4:c.196C>T, XM_017012029.3:c.409C>T, XM_017012029.2:c.409C>T, XM_017012029.1:c.409C>T, XM_017012030.3:c.343C>T, XM_017012030.2:c.343C>T, XM_017012030.1:c.343C>T, XM_017012031.3:c.409C>T, XM_017012031.2:c.409C>T, XM_017012031.1:c.409C>T, XM_017012061.3:c.22C>T, XM_017012061.2:c.22C>T, XM_017012061.1:c.22C>T, XM_017012062.3:c.22C>T, XM_017012062.2:c.22C>T, XM_017012062.1:c.22C>T, XM_024446726.2:c.310C>T, XM_024446726.1:c.310C>T, XM_017012034.2:c.196C>T, XM_017012034.1:c.196C>T, XM_024446729.2:c.22C>T, XM_024446729.1:c.22C>T, XM_047420254.1:c.22C>T, XM_047420242.1:c.193C>T, XM_047420255.1:c.22C>T, XM_047420253.1:c.22C>T, XM_047420251.1:c.22C>T, XM_047420245.1:c.22C>T, XM_047420234.1:c.178C>T, XM_047420246.1:c.22C>T, XM_047420240.1:c.178C>T, XM_047420247.1:c.22C>T, XM_047420235.1:c.178C>T, XM_047420236.1:c.178C>T, XM_047420244.1:c.178C>T, XM_047420248.1:c.22C>T, XM_047420233.1:c.178C>T, XM_047420249.1:c.22C>T, XM_017012058.1:c.22C>T, XM_047420243.1:c.178C>T, XM_047420238.1:c.178C>T, XM_047420237.1:c.178C>T, XM_047420241.1:c.196C>T, XM_047420232.1:c.196C>T, XM_047420252.1:c.22C>T, XM_047420250.1:c.22C>T, XM_017012045.1:c.22C>T

                                  17.

                                  rs1465771165 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    7:50604353 (GRCh38)
                                    7:50672050 (GRCh37)
                                    Canonical SPDI:
                                    NC_000007.14:50604352:G:A
                                    Gene:
                                    GRB10 (Varview)
                                    Functional Consequence:
                                    synonymous_variant,coding_sequence_variant
                                    Validated:
                                    by frequency
                                    MAF:
                                    A=0.000004/1 (GnomAD_exomes)
                                    HGVS:
                                    NC_000007.14:g.50604353G>A, NC_000007.13:g.50672050G>A, NG_012305.2:g.194110C>T, NM_001350816.3:c.1240C>T, NM_001350816.2:c.1396C>T, NM_001350816.1:c.1396C>T, NM_001001555.3:c.1240C>T, NM_001001555.2:c.1240C>T, NM_001001550.3:c.1240C>T, NM_001001550.2:c.1240C>T, NM_001001549.3:c.1276C>T, NM_001001549.2:c.1276C>T, NM_001350814.2:c.1414C>T, NM_001350814.1:c.1414C>T, NM_001350815.2:c.1528C>T, NM_001350815.1:c.1528C>T, NM_001371009.1:c.1561C>T, NM_001371008.1:c.1240C>T, NM_005311.4:c.1414C>T, XM_017012029.3:c.1762C>T, XM_017012029.2:c.1762C>T, XM_017012029.1:c.1762C>T, XM_017012030.3:c.1696C>T, XM_017012030.2:c.1696C>T, XM_017012030.1:c.1696C>T, XM_017012031.3:c.1627C>T, XM_017012031.2:c.1627C>T, XM_017012031.1:c.1627C>T, XM_017012061.3:c.1375C>T, XM_017012061.2:c.1375C>T, XM_017012061.1:c.1375C>T, XM_017012062.3:c.1375C>T, XM_017012062.2:c.1375C>T, XM_017012062.1:c.1375C>T, XM_024446726.2:c.1663C>T, XM_024446726.1:c.1663C>T, XM_017012034.2:c.1549C>T, XM_017012034.1:c.1549C>T, XM_024446729.2:c.1375C>T, XM_024446729.1:c.1375C>T, XM_047420254.1:c.1240C>T, XM_047420242.1:c.1411C>T, XM_047420255.1:c.1240C>T, XM_047420253.1:c.1240C>T, XM_047420251.1:c.1375C>T, XM_047420245.1:c.1375C>T, XM_047420234.1:c.1531C>T, XM_047420246.1:c.1375C>T, XM_047420240.1:c.1531C>T, XM_047420247.1:c.1375C>T, XM_047420235.1:c.1531C>T, XM_047420236.1:c.1531C>T, XM_047420244.1:c.1396C>T, XM_047420248.1:c.1375C>T, XM_047420233.1:c.1531C>T, XM_047420249.1:c.1375C>T, XM_017012058.1:c.1375C>T, XM_047420243.1:c.1396C>T, XM_047420238.1:c.1531C>T, XM_047420237.1:c.1531C>T, XM_047420241.1:c.1414C>T, XM_047420232.1:c.1549C>T, XM_047420252.1:c.1240C>T, XM_047420250.1:c.1375C>T, XM_017012045.1:c.1240C>T, XM_047420256.1:c.853C>T

                                    18.

                                    rs1463681726 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      A>T [Show Flanks]
                                      Chromosome:
                                      7:50605338 (GRCh38)
                                      7:50673035 (GRCh37)
                                      Canonical SPDI:
                                      NC_000007.14:50605337:A:T
                                      Gene:
                                      GRB10 (Varview)
                                      Functional Consequence:
                                      missense_variant,coding_sequence_variant
                                      Validated:
                                      by frequency
                                      MAF:
                                      T=0.000004/1 (GnomAD_exomes)
                                      HGVS:
                                      NC_000007.14:g.50605338A>T, NC_000007.13:g.50673035A>T, NG_012305.2:g.193125T>A, NM_001350816.3:c.1167T>A, NM_001350816.2:c.1323T>A, NM_001350816.1:c.1323T>A, NM_001001555.3:c.1167T>A, NM_001001555.2:c.1167T>A, NM_001001550.3:c.1167T>A, NM_001001550.2:c.1167T>A, NM_001001549.3:c.1203T>A, NM_001001549.2:c.1203T>A, NM_001350814.2:c.1341T>A, NM_001350814.1:c.1341T>A, NM_001350815.2:c.1455T>A, NM_001350815.1:c.1455T>A, NM_001371009.1:c.1488T>A, NM_001371008.1:c.1167T>A, NM_005311.4:c.1341T>A, XM_017012029.3:c.1689T>A, XM_017012029.2:c.1689T>A, XM_017012029.1:c.1689T>A, XM_017012030.3:c.1623T>A, XM_017012030.2:c.1623T>A, XM_017012030.1:c.1623T>A, XM_017012031.3:c.1554T>A, XM_017012031.2:c.1554T>A, XM_017012031.1:c.1554T>A, XM_017012061.3:c.1302T>A, XM_017012061.2:c.1302T>A, XM_017012061.1:c.1302T>A, XM_017012062.3:c.1302T>A, XM_017012062.2:c.1302T>A, XM_017012062.1:c.1302T>A, XM_024446726.2:c.1590T>A, XM_024446726.1:c.1590T>A, XM_017012034.2:c.1476T>A, XM_017012034.1:c.1476T>A, XM_024446729.2:c.1302T>A, XM_024446729.1:c.1302T>A, XM_047420254.1:c.1167T>A, XM_047420242.1:c.1338T>A, XM_047420255.1:c.1167T>A, XM_047420253.1:c.1167T>A, XM_047420251.1:c.1302T>A, XM_047420245.1:c.1302T>A, XM_047420234.1:c.1458T>A, XM_047420246.1:c.1302T>A, XM_047420240.1:c.1458T>A, XM_047420247.1:c.1302T>A, XM_047420235.1:c.1458T>A, XM_047420236.1:c.1458T>A, XM_047420244.1:c.1323T>A, XM_047420248.1:c.1302T>A, XM_047420233.1:c.1458T>A, XM_047420249.1:c.1302T>A, XM_017012058.1:c.1302T>A, XM_047420243.1:c.1323T>A, XM_047420238.1:c.1458T>A, XM_047420237.1:c.1458T>A, XM_047420241.1:c.1341T>A, XM_047420232.1:c.1476T>A, XM_047420252.1:c.1167T>A, XM_047420250.1:c.1302T>A, XM_017012045.1:c.1167T>A, XM_047420256.1:c.780T>A, NP_001337745.2:p.Asn389Lys, NP_001001555.1:p.Asn389Lys, NP_001001550.1:p.Asn389Lys, NP_001001549.1:p.Asn401Lys, NP_001337743.1:p.Asn447Lys, NP_001337744.1:p.Asn485Lys, NP_001357938.1:p.Asn496Lys, NP_001357937.1:p.Asn389Lys, XP_016867518.1:p.Asn563Lys, XP_016867519.1:p.Asn541Lys, XP_016867520.1:p.Asn518Lys, XP_016867550.1:p.Asn434Lys, XP_016867551.1:p.Asn434Lys, XP_024302494.1:p.Asn530Lys, XP_016867523.1:p.Asn492Lys, XP_024302497.1:p.Asn434Lys, XP_047276210.1:p.Asn389Lys, XP_047276198.1:p.Asn446Lys, XP_047276211.1:p.Asn389Lys, XP_047276209.1:p.Asn389Lys, XP_047276207.1:p.Asn434Lys, XP_047276201.1:p.Asn434Lys, XP_047276190.1:p.Asn486Lys, XP_047276202.1:p.Asn434Lys, XP_047276196.1:p.Asn486Lys, XP_047276203.1:p.Asn434Lys, XP_047276191.1:p.Asn486Lys, XP_047276192.1:p.Asn486Lys, XP_047276200.1:p.Asn441Lys, XP_047276204.1:p.Asn434Lys, XP_047276189.1:p.Asn486Lys, XP_047276205.1:p.Asn434Lys, XP_016867547.1:p.Asn434Lys, XP_047276199.1:p.Asn441Lys, XP_047276194.1:p.Asn486Lys, XP_047276193.1:p.Asn486Lys, XP_047276197.1:p.Asn447Lys, XP_047276188.1:p.Asn492Lys, XP_047276208.1:p.Asn389Lys, XP_047276206.1:p.Asn434Lys, XP_016867534.1:p.Asn389Lys, XP_047276212.1:p.Asn260Lys

                                      19.

                                      rs1463141448 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        7:50616290 (GRCh38)
                                        7:50683987 (GRCh37)
                                        Canonical SPDI:
                                        NC_000007.14:50616289:G:C
                                        Gene:
                                        GRB10 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant,intron_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_000007.14:g.50616290G>C, NC_000007.13:g.50683987G>C, NG_012305.2:g.182173C>G, NM_001350816.3:c.730C>G, NM_001350816.2:c.886C>G, NM_001350816.1:c.886C>G, NM_001001555.3:c.730C>G, NM_001001555.2:c.730C>G, NM_001001550.3:c.730C>G, NM_001001550.2:c.730C>G, NM_001350814.2:c.904C>G, NM_001350814.1:c.904C>G, NM_001350815.2:c.1018C>G, NM_001350815.1:c.1018C>G, NM_001371009.1:c.1051C>G, NM_001371008.1:c.730C>G, NM_005311.4:c.904C>G, XM_017012029.3:c.1252C>G, XM_017012029.2:c.1252C>G, XM_017012029.1:c.1252C>G, XM_017012030.3:c.1186C>G, XM_017012030.2:c.1186C>G, XM_017012030.1:c.1186C>G, XM_017012031.3:c.1117C>G, XM_017012031.2:c.1117C>G, XM_017012031.1:c.1117C>G, XM_017012061.3:c.865C>G, XM_017012061.2:c.865C>G, XM_017012061.1:c.865C>G, XM_017012062.3:c.865C>G, XM_017012062.2:c.865C>G, XM_017012062.1:c.865C>G, XM_024446726.2:c.1153C>G, XM_024446726.1:c.1153C>G, XM_017012034.2:c.1039C>G, XM_017012034.1:c.1039C>G, XM_024446729.2:c.865C>G, XM_024446729.1:c.865C>G, XM_047420254.1:c.730C>G, XM_047420242.1:c.901C>G, XM_047420255.1:c.730C>G, XM_047420253.1:c.730C>G, XM_047420251.1:c.865C>G, XM_047420245.1:c.865C>G, XM_047420234.1:c.1021C>G, XM_047420246.1:c.865C>G, XM_047420240.1:c.1021C>G, XM_047420247.1:c.865C>G, XM_047420235.1:c.1021C>G, XM_047420236.1:c.1021C>G, XM_047420244.1:c.886C>G, XM_047420248.1:c.865C>G, XM_047420233.1:c.1021C>G, XM_047420249.1:c.865C>G, XM_017012058.1:c.865C>G, XM_047420243.1:c.886C>G, XM_047420238.1:c.1021C>G, XM_047420237.1:c.1021C>G, XM_047420241.1:c.904C>G, XM_047420232.1:c.1039C>G, XM_047420252.1:c.730C>G, XM_047420250.1:c.865C>G, XM_017012045.1:c.730C>G, XM_047420256.1:c.343C>G, NP_001337745.2:p.Leu244Val, NP_001001555.1:p.Leu244Val, NP_001001550.1:p.Leu244Val, NP_001337743.1:p.Leu302Val, NP_001337744.1:p.Leu340Val, NP_001357938.1:p.Leu351Val, NP_001357937.1:p.Leu244Val, XP_016867518.1:p.Leu418Val, XP_016867519.1:p.Leu396Val, XP_016867520.1:p.Leu373Val, XP_016867550.1:p.Leu289Val, XP_016867551.1:p.Leu289Val, XP_024302494.1:p.Leu385Val, XP_016867523.1:p.Leu347Val, XP_024302497.1:p.Leu289Val, XP_047276210.1:p.Leu244Val, XP_047276198.1:p.Leu301Val, XP_047276211.1:p.Leu244Val, XP_047276209.1:p.Leu244Val, XP_047276207.1:p.Leu289Val, XP_047276201.1:p.Leu289Val, XP_047276190.1:p.Leu341Val, XP_047276202.1:p.Leu289Val, XP_047276196.1:p.Leu341Val, XP_047276203.1:p.Leu289Val, XP_047276191.1:p.Leu341Val, XP_047276192.1:p.Leu341Val, XP_047276200.1:p.Leu296Val, XP_047276204.1:p.Leu289Val, XP_047276189.1:p.Leu341Val, XP_047276205.1:p.Leu289Val, XP_016867547.1:p.Leu289Val, XP_047276199.1:p.Leu296Val, XP_047276194.1:p.Leu341Val, XP_047276193.1:p.Leu341Val, XP_047276197.1:p.Leu302Val, XP_047276188.1:p.Leu347Val, XP_047276208.1:p.Leu244Val, XP_047276206.1:p.Leu289Val, XP_016867534.1:p.Leu244Val, XP_047276212.1:p.Leu115Val

                                        20.

                                        rs1462264453 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>A [Show Flanks]
                                          Chromosome:
                                          7:50616282 (GRCh38)
                                          7:50683979 (GRCh37)
                                          Canonical SPDI:
                                          NC_000007.14:50616281:C:A
                                          Gene:
                                          GRB10 (Varview)
                                          Functional Consequence:
                                          missense_variant,coding_sequence_variant,intron_variant
                                          Validated:
                                          by frequency
                                          MAF:
                                          A=0.000004/1 (GnomAD_exomes)
                                          HGVS:
                                          NC_000007.14:g.50616282C>A, NC_000007.13:g.50683979C>A, NG_012305.2:g.182181G>T, NM_001350816.3:c.738G>T, NM_001350816.2:c.894G>T, NM_001350816.1:c.894G>T, NM_001001555.3:c.738G>T, NM_001001555.2:c.738G>T, NM_001001550.3:c.738G>T, NM_001001550.2:c.738G>T, NM_001350814.2:c.912G>T, NM_001350814.1:c.912G>T, NM_001350815.2:c.1026G>T, NM_001350815.1:c.1026G>T, NM_001371009.1:c.1059G>T, NM_001371008.1:c.738G>T, NM_005311.4:c.912G>T, XM_017012029.3:c.1260G>T, XM_017012029.2:c.1260G>T, XM_017012029.1:c.1260G>T, XM_017012030.3:c.1194G>T, XM_017012030.2:c.1194G>T, XM_017012030.1:c.1194G>T, XM_017012031.3:c.1125G>T, XM_017012031.2:c.1125G>T, XM_017012031.1:c.1125G>T, XM_017012061.3:c.873G>T, XM_017012061.2:c.873G>T, XM_017012061.1:c.873G>T, XM_017012062.3:c.873G>T, XM_017012062.2:c.873G>T, XM_017012062.1:c.873G>T, XM_024446726.2:c.1161G>T, XM_024446726.1:c.1161G>T, XM_017012034.2:c.1047G>T, XM_017012034.1:c.1047G>T, XM_024446729.2:c.873G>T, XM_024446729.1:c.873G>T, XM_047420254.1:c.738G>T, XM_047420242.1:c.909G>T, XM_047420255.1:c.738G>T, XM_047420253.1:c.738G>T, XM_047420251.1:c.873G>T, XM_047420245.1:c.873G>T, XM_047420234.1:c.1029G>T, XM_047420246.1:c.873G>T, XM_047420240.1:c.1029G>T, XM_047420247.1:c.873G>T, XM_047420235.1:c.1029G>T, XM_047420236.1:c.1029G>T, XM_047420244.1:c.894G>T, XM_047420248.1:c.873G>T, XM_047420233.1:c.1029G>T, XM_047420249.1:c.873G>T, XM_017012058.1:c.873G>T, XM_047420243.1:c.894G>T, XM_047420238.1:c.1029G>T, XM_047420237.1:c.1029G>T, XM_047420241.1:c.912G>T, XM_047420232.1:c.1047G>T, XM_047420252.1:c.738G>T, XM_047420250.1:c.873G>T, XM_017012045.1:c.738G>T, XM_047420256.1:c.351G>T, NP_001337745.2:p.Lys246Asn, NP_001001555.1:p.Lys246Asn, NP_001001550.1:p.Lys246Asn, NP_001337743.1:p.Lys304Asn, NP_001337744.1:p.Lys342Asn, NP_001357938.1:p.Lys353Asn, NP_001357937.1:p.Lys246Asn, XP_016867518.1:p.Lys420Asn, XP_016867519.1:p.Lys398Asn, XP_016867520.1:p.Lys375Asn, XP_016867550.1:p.Lys291Asn, XP_016867551.1:p.Lys291Asn, XP_024302494.1:p.Lys387Asn, XP_016867523.1:p.Lys349Asn, XP_024302497.1:p.Lys291Asn, XP_047276210.1:p.Lys246Asn, XP_047276198.1:p.Lys303Asn, XP_047276211.1:p.Lys246Asn, XP_047276209.1:p.Lys246Asn, XP_047276207.1:p.Lys291Asn, XP_047276201.1:p.Lys291Asn, XP_047276190.1:p.Lys343Asn, XP_047276202.1:p.Lys291Asn, XP_047276196.1:p.Lys343Asn, XP_047276203.1:p.Lys291Asn, XP_047276191.1:p.Lys343Asn, XP_047276192.1:p.Lys343Asn, XP_047276200.1:p.Lys298Asn, XP_047276204.1:p.Lys291Asn, XP_047276189.1:p.Lys343Asn, XP_047276205.1:p.Lys291Asn, XP_016867547.1:p.Lys291Asn, XP_047276199.1:p.Lys298Asn, XP_047276194.1:p.Lys343Asn, XP_047276193.1:p.Lys343Asn, XP_047276197.1:p.Lys304Asn, XP_047276188.1:p.Lys349Asn, XP_047276208.1:p.Lys246Asn, XP_047276206.1:p.Lys291Asn, XP_016867534.1:p.Lys246Asn, XP_047276212.1:p.Lys117Asn

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