Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53250815_53250834delCA2695233931IQSEC2c.1903_1922del (p.Arg635CysfsTer9)
c.1744_1763del (p.Arg582CysfsTer9)
c.1714_1733del (p.Arg572CysfsTer9)
c.1129_1148del (p.Arg377CysfsTer9)
c.1840_1859del (p.Arg614CysfsTer9)
c.1066_1085del (p.Arg356CysfsTer9)
c.1033_1052del (p.Arg345CysfsTer9)
n.2067_2086del
c.1246_1265del (p.Arg416CysfsTer9)
n.2061_2080del
Xg.53250832G>ACA16621445IQSEC2c.1903C>T (p.Arg635Trp)
c.1744C>T (p.Arg582Trp)
c.1714C>T (p.Arg572Trp)
c.1129C>T (p.Arg377Trp)
c.1840C>T (p.Arg614Trp)
c.1066C>T (p.Arg356Trp)
c.1033C>T (p.Arg345Trp)
n.2067C>T
c.1246C>T (p.Arg416Trp)
n.2061C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53250832G>CCA413164021IQSEC2c.1903C>G (p.Arg635Gly)
c.1744C>G (p.Arg582Gly)
c.1714C>G (p.Arg572Gly)
c.1129C>G (p.Arg377Gly)
c.1840C>G (p.Arg614Gly)
c.1066C>G (p.Arg356Gly)
c.1033C>G (p.Arg345Gly)
n.2067C>G
c.1246C>G (p.Arg416Gly)
n.2061C>G
Xg.53250832G=CA2429775652IQSEC2c.1903C= (p.Arg635=)
c.1744C= (p.Arg582=)
c.1714C= (p.Arg572=)
c.1129C= (p.Arg377=)
c.1840C= (p.Arg614=)
c.1066C= (p.Arg356=)
c.1033C= (p.Arg345=)
n.2067C=
c.1246C= (p.Arg416=)
n.2061C=
Xg.53250832G>TCA516674041IQSEC2c.1903C>A (p.Arg635=)
c.1744C>A (p.Arg582=)
c.1714C>A (p.Arg572=)
c.1129C>A (p.Arg377=)
c.1840C>A (p.Arg614=)
c.1066C>A (p.Arg356=)
c.1033C>A (p.Arg345=)
n.2067C>A
c.1246C>A (p.Arg416=)
n.2061C>A
Xg.53250833G>ACA516674046IQSEC2c.1902C>T (p.Cys634=)
c.1743C>T (p.Cys581=)
c.1713C>T (p.Cys571=)
c.1128C>T (p.Cys376=)
c.1839C>T (p.Cys613=)
c.1065C>T (p.Cys355=)
c.1032C>T (p.Cys344=)
n.2066C>T
c.1245C>T (p.Cys415=)
n.2060C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.53250833G>CCA413164023IQSEC2c.1902C>G (p.Cys634Trp)
c.1743C>G (p.Cys581Trp)
c.1713C>G (p.Cys571Trp)
c.1128C>G (p.Cys376Trp)
c.1839C>G (p.Cys613Trp)
c.1065C>G (p.Cys355Trp)
c.1032C>G (p.Cys344Trp)
n.2066C>G
c.1245C>G (p.Cys415Trp)
n.2060C>G
Xg.53250833G=CA2429775653IQSEC2c.1902C= (p.Cys634=)
c.1743C= (p.Cys581=)
c.1713C= (p.Cys571=)
c.1128C= (p.Cys376=)
c.1839C= (p.Cys613=)
c.1065C= (p.Cys355=)
c.1032C= (p.Cys344=)
n.2066C=
c.1245C= (p.Cys415=)
n.2060C=
Xg.53250833G>TCA413164027IQSEC2c.1902C>A (p.Cys634Ter)
c.1743C>A (p.Cys581Ter)
c.1713C>A (p.Cys571Ter)
c.1128C>A (p.Cys376Ter)
c.1839C>A (p.Cys613Ter)
c.1065C>A (p.Cys355Ter)
c.1032C>A (p.Cys344Ter)
n.2066C>A
c.1245C>A (p.Cys415Ter)
n.2060C>A
Xg.53250834C>ACA413164036IQSEC2c.1901G>T (p.Cys634Phe)
c.1742G>T (p.Cys581Phe)
c.1712G>T (p.Cys571Phe)
c.1127G>T (p.Cys376Phe)
c.1838G>T (p.Cys613Phe)
c.1064G>T (p.Cys355Phe)
c.1031G>T (p.Cys344Phe)
n.2065G>T
c.1244G>T (p.Cys415Phe)
n.2059G>T
Xg.53250834C>GCA413164038IQSEC2c.1901G>C (p.Cys634Ser)
c.1742G>C (p.Cys581Ser)
c.1712G>C (p.Cys571Ser)
c.1127G>C (p.Cys376Ser)
c.1838G>C (p.Cys613Ser)
c.1064G>C (p.Cys355Ser)
c.1031G>C (p.Cys344Ser)
n.2065G>C
c.1244G>C (p.Cys415Ser)
n.2059G>C
Xg.53250834C>TCA413164041IQSEC2c.1901G>A (p.Cys634Tyr)
c.1742G>A (p.Cys581Tyr)
c.1712G>A (p.Cys571Tyr)
c.1127G>A (p.Cys376Tyr)
c.1838G>A (p.Cys613Tyr)
c.1064G>A (p.Cys355Tyr)
c.1031G>A (p.Cys344Tyr)
n.2065G>A
c.1244G>A (p.Cys415Tyr)
n.2059G>A
Xg.53250835A>CCA413164053IQSEC2c.1900T>G (p.Cys634Gly)
c.1741T>G (p.Cys581Gly)
c.1711T>G (p.Cys571Gly)
c.1126T>G (p.Cys376Gly)
c.1837T>G (p.Cys613Gly)
c.1063T>G (p.Cys355Gly)
c.1030T>G (p.Cys344Gly)
n.2064T>G
c.1243T>G (p.Cys415Gly)
n.2058T>G
Xg.53250835A>GCA413164057IQSEC2c.1900T>C (p.Cys634Arg)
c.1741T>C (p.Cys581Arg)
c.1711T>C (p.Cys571Arg)
c.1126T>C (p.Cys376Arg)
c.1837T>C (p.Cys613Arg)
c.1063T>C (p.Cys355Arg)
c.1030T>C (p.Cys344Arg)
n.2064T>C
c.1243T>C (p.Cys415Arg)
n.2058T>C
Xg.53250835A>TCA413164050IQSEC2c.1900T>A (p.Cys634Ser)
c.1741T>A (p.Cys581Ser)
c.1711T>A (p.Cys571Ser)
c.1126T>A (p.Cys376Ser)
c.1837T>A (p.Cys613Ser)
c.1063T>A (p.Cys355Ser)
c.1030T>A (p.Cys344Ser)
n.2064T>A
c.1243T>A (p.Cys415Ser)
n.2058T>A
Xg.53250836C>ACA413164064IQSEC2c.1899G>T (p.Glu633Asp)
c.1740G>T (p.Glu580Asp)
c.1710G>T (p.Glu570Asp)
c.1125G>T (p.Glu375Asp)
c.1836G>T (p.Glu612Asp)
c.1062G>T (p.Glu354Asp)
c.1029G>T (p.Glu343Asp)
n.2063G>T
c.1242G>T (p.Glu414Asp)
n.2057G>T
Xg.53250836C>GCA413164065IQSEC2c.1899G>C (p.Glu633Asp)
c.1740G>C (p.Glu580Asp)
c.1710G>C (p.Glu570Asp)
c.1125G>C (p.Glu375Asp)
c.1836G>C (p.Glu612Asp)
c.1062G>C (p.Glu354Asp)
c.1029G>C (p.Glu343Asp)
n.2063G>C
c.1242G>C (p.Glu414Asp)
n.2057G>C
Xg.53250836C>TCA516674052IQSEC2c.1899G>A (p.Glu633=)
c.1740G>A (p.Glu580=)
c.1710G>A (p.Glu570=)
c.1125G>A (p.Glu375=)
c.1836G>A (p.Glu612=)
c.1062G>A (p.Glu354=)
c.1029G>A (p.Glu343=)
n.2063G>A
c.1242G>A (p.Glu414=)
n.2057G>A
Xg.53250837T>ACA413164066IQSEC2c.1898A>T (p.Glu633Val)
c.1739A>T (p.Glu580Val)
c.1709A>T (p.Glu570Val)
c.1124A>T (p.Glu375Val)
c.1835A>T (p.Glu612Val)
c.1061A>T (p.Glu354Val)
c.1028A>T (p.Glu343Val)
n.2062A>T
c.1241A>T (p.Glu414Val)
n.2056A>T
Xg.53250837T>CCA413164068IQSEC2c.1898A>G (p.Glu633Gly)
c.1739A>G (p.Glu580Gly)
c.1709A>G (p.Glu570Gly)
c.1124A>G (p.Glu375Gly)
c.1835A>G (p.Glu612Gly)
c.1061A>G (p.Glu354Gly)
c.1028A>G (p.Glu343Gly)
n.2062A>G
c.1241A>G (p.Glu414Gly)
n.2056A>G
 gnomAD v4
Xg.53250837T>GCA413164072IQSEC2c.1898A>C (p.Glu633Ala)
c.1739A>C (p.Glu580Ala)
c.1709A>C (p.Glu570Ala)
c.1124A>C (p.Glu375Ala)
c.1835A>C (p.Glu612Ala)
c.1061A>C (p.Glu354Ala)
c.1028A>C (p.Glu343Ala)
n.2062A>C
c.1241A>C (p.Glu414Ala)
n.2056A>C
Xg.53250838C>ACA413164077IQSEC2c.1897G>T (p.Glu633Ter)
c.1738G>T (p.Glu580Ter)
c.1708G>T (p.Glu570Ter)
c.1123G>T (p.Glu375Ter)
c.1834G>T (p.Glu612Ter)
c.1060G>T (p.Glu354Ter)
c.1027G>T (p.Glu343Ter)
n.2061G>T
c.1240G>T (p.Glu414Ter)
n.2055G>T
Xg.53250838C>GCA413164080IQSEC2c.1897G>C (p.Glu633Gln)
c.1738G>C (p.Glu580Gln)
c.1708G>C (p.Glu570Gln)
c.1123G>C (p.Glu375Gln)
c.1834G>C (p.Glu612Gln)
c.1060G>C (p.Glu354Gln)
c.1027G>C (p.Glu343Gln)
n.2061G>C
c.1240G>C (p.Glu414Gln)
n.2055G>C
Xg.53250838C>TCA413164086IQSEC2c.1897G>A (p.Glu633Lys)
c.1738G>A (p.Glu580Lys)
c.1708G>A (p.Glu570Lys)
c.1123G>A (p.Glu375Lys)
c.1834G>A (p.Glu612Lys)
c.1060G>A (p.Glu354Lys)
c.1027G>A (p.Glu343Lys)
n.2061G>A
c.1240G>A (p.Glu414Lys)
n.2055G>A
Xg.53250839C>ACA413164091IQSEC2c.1896G>T (p.Leu632Phe)
c.1737G>T (p.Leu579Phe)
c.1707G>T (p.Leu569Phe)
c.1122G>T (p.Leu374Phe)
c.1833G>T (p.Leu611Phe)
c.1059G>T (p.Leu353Phe)
c.1026G>T (p.Leu342Phe)
n.2060G>T
c.1239G>T (p.Leu413Phe)
n.2054G>T
Xg.53250839C>GCA413164099IQSEC2c.1896G>C (p.Leu632Phe)
c.1737G>C (p.Leu579Phe)
c.1707G>C (p.Leu569Phe)
c.1122G>C (p.Leu374Phe)
c.1833G>C (p.Leu611Phe)
c.1059G>C (p.Leu353Phe)
c.1026G>C (p.Leu342Phe)
n.2060G>C
c.1239G>C (p.Leu413Phe)
n.2054G>C
Xg.53250839C>TCA516674056IQSEC2c.1896G>A (p.Leu632=)
c.1737G>A (p.Leu579=)
c.1707G>A (p.Leu569=)
c.1122G>A (p.Leu374=)
c.1833G>A (p.Leu611=)
c.1059G>A (p.Leu353=)
c.1026G>A (p.Leu342=)
n.2060G>A
c.1239G>A (p.Leu413=)
n.2054G>A
Xg.53250840A>CCA413164103IQSEC2c.1895T>G (p.Leu632Trp)
c.1736T>G (p.Leu579Trp)
c.1706T>G (p.Leu569Trp)
c.1121T>G (p.Leu374Trp)
c.1832T>G (p.Leu611Trp)
c.1058T>G (p.Leu353Trp)
c.1025T>G (p.Leu342Trp)
n.2059T>G
c.1238T>G (p.Leu413Trp)
n.2053T>G
Xg.53250840A>GCA413164116IQSEC2c.1895T>C (p.Leu632Ser)
c.1736T>C (p.Leu579Ser)
c.1706T>C (p.Leu569Ser)
c.1121T>C (p.Leu374Ser)
c.1832T>C (p.Leu611Ser)
c.1058T>C (p.Leu353Ser)
c.1025T>C (p.Leu342Ser)
n.2059T>C
c.1238T>C (p.Leu413Ser)
n.2053T>C
Xg.53250840A>TCA413164118IQSEC2c.1895T>A (p.Leu632Ter)
c.1736T>A (p.Leu579Ter)
c.1706T>A (p.Leu569Ter)
c.1121T>A (p.Leu374Ter)
c.1832T>A (p.Leu611Ter)
c.1058T>A (p.Leu353Ter)
c.1025T>A (p.Leu342Ter)
n.2059T>A
c.1238T>A (p.Leu413Ter)
n.2053T>A
Xg.53250841A>CCA413164120IQSEC2c.1894T>G (p.Leu632Val)
c.1735T>G (p.Leu579Val)
c.1705T>G (p.Leu569Val)
c.1120T>G (p.Leu374Val)
c.1831T>G (p.Leu611Val)
c.1057T>G (p.Leu353Val)
c.1024T>G (p.Leu342Val)
n.2058T>G
c.1237T>G (p.Leu413Val)
n.2052T>G
Xg.53250841A>GCA516674058IQSEC2c.1894T>C (p.Leu632=)
c.1735T>C (p.Leu579=)
c.1705T>C (p.Leu569=)
c.1120T>C (p.Leu374=)
c.1831T>C (p.Leu611=)
c.1057T>C (p.Leu353=)
c.1024T>C (p.Leu342=)
n.2058T>C
c.1237T>C (p.Leu413=)
n.2052T>C
Xg.53250841A>TCA413164119IQSEC2c.1894T>A (p.Leu632Met)
c.1735T>A (p.Leu579Met)
c.1705T>A (p.Leu569Met)
c.1120T>A (p.Leu374Met)
c.1831T>A (p.Leu611Met)
c.1057T>A (p.Leu353Met)
c.1024T>A (p.Leu342Met)
n.2058T>A
c.1237T>A (p.Leu413Met)
n.2052T>A
Xg.53250842G>ACA516674064IQSEC2c.1893C>T (p.Cys631=)
c.1734C>T (p.Cys578=)
c.1704C>T (p.Cys568=)
c.1119C>T (p.Cys373=)
c.1830C>T (p.Cys610=)
c.1056C>T (p.Cys352=)
c.1023C>T (p.Cys341=)
n.2057C>T
c.1236C>T (p.Cys412=)
n.2051C>T
Xg.53250842G>CCA413164123IQSEC2c.1893C>G (p.Cys631Trp)
c.1734C>G (p.Cys578Trp)
c.1704C>G (p.Cys568Trp)
c.1119C>G (p.Cys373Trp)
c.1830C>G (p.Cys610Trp)
c.1056C>G (p.Cys352Trp)
c.1023C>G (p.Cys341Trp)
n.2057C>G
c.1236C>G (p.Cys412Trp)
n.2051C>G
Xg.53250842G>TCA413164128IQSEC2c.1893C>A (p.Cys631Ter)
c.1734C>A (p.Cys578Ter)
c.1704C>A (p.Cys568Ter)
c.1119C>A (p.Cys373Ter)
c.1830C>A (p.Cys610Ter)
c.1056C>A (p.Cys352Ter)
c.1023C>A (p.Cys341Ter)
n.2057C>A
c.1236C>A (p.Cys412Ter)
n.2051C>A
Xg.53250843C>ACA413164135IQSEC2c.1892G>T (p.Cys631Phe)
c.1733G>T (p.Cys578Phe)
c.1703G>T (p.Cys568Phe)
c.1118G>T (p.Cys373Phe)
c.1829G>T (p.Cys610Phe)
c.1055G>T (p.Cys352Phe)
c.1022G>T (p.Cys341Phe)
n.2056G>T
c.1235G>T (p.Cys412Phe)
n.2050G>T
 COSMIC COSMIC COSMIC
Xg.53250843C>GCA413164138IQSEC2c.1892G>C (p.Cys631Ser)
c.1733G>C (p.Cys578Ser)
c.1703G>C (p.Cys568Ser)
c.1118G>C (p.Cys373Ser)
c.1829G>C (p.Cys610Ser)
c.1055G>C (p.Cys352Ser)
c.1022G>C (p.Cys341Ser)
n.2056G>C
c.1235G>C (p.Cys412Ser)
n.2050G>C
Xg.53250843C>TCA413164142IQSEC2c.1892G>A (p.Cys631Tyr)
c.1733G>A (p.Cys578Tyr)
c.1703G>A (p.Cys568Tyr)
c.1118G>A (p.Cys373Tyr)
c.1829G>A (p.Cys610Tyr)
c.1055G>A (p.Cys352Tyr)
c.1022G>A (p.Cys341Tyr)
n.2056G>A
c.1235G>A (p.Cys412Tyr)
n.2050G>A
Xg.53250844A>CCA413164147IQSEC2c.1891T>G (p.Cys631Gly)
c.1732T>G (p.Cys578Gly)
c.1702T>G (p.Cys568Gly)
c.1117T>G (p.Cys373Gly)
c.1828T>G (p.Cys610Gly)
c.1054T>G (p.Cys352Gly)
c.1021T>G (p.Cys341Gly)
n.2055T>G
c.1234T>G (p.Cys412Gly)
n.2049T>G
Xg.53250844A>GCA413164151IQSEC2c.1891T>C (p.Cys631Arg)
c.1732T>C (p.Cys578Arg)
c.1702T>C (p.Cys568Arg)
c.1117T>C (p.Cys373Arg)
c.1828T>C (p.Cys610Arg)
c.1054T>C (p.Cys352Arg)
c.1021T>C (p.Cys341Arg)
n.2055T>C
c.1234T>C (p.Cys412Arg)
n.2049T>C
Xg.53250844A>TCA413164154IQSEC2c.1891T>A (p.Cys631Ser)
c.1732T>A (p.Cys578Ser)
c.1702T>A (p.Cys568Ser)
c.1117T>A (p.Cys373Ser)
c.1828T>A (p.Cys610Ser)
c.1054T>A (p.Cys352Ser)
c.1021T>A (p.Cys341Ser)
n.2055T>A
c.1234T>A (p.Cys412Ser)
n.2049T>A
Xg.53250845C>ACA516674069IQSEC2c.1890G>T (p.Gly630=)
c.1731G>T (p.Gly577=)
c.1701G>T (p.Gly567=)
c.1116G>T (p.Gly372=)
c.1827G>T (p.Gly609=)
c.1053G>T (p.Gly351=)
c.1020G>T (p.Gly340=)
n.2054G>T
c.1233G>T (p.Gly411=)
n.2048G>T
Xg.53250845C>GCA516674070IQSEC2c.1890G>C (p.Gly630=)
c.1731G>C (p.Gly577=)
c.1701G>C (p.Gly567=)
c.1116G>C (p.Gly372=)
c.1827G>C (p.Gly609=)
c.1053G>C (p.Gly351=)
c.1020G>C (p.Gly340=)
n.2054G>C
c.1233G>C (p.Gly411=)
n.2048G>C
Xg.53250845C>TCA516674071IQSEC2c.1890G>A (p.Gly630=)
c.1731G>A (p.Gly577=)
c.1701G>A (p.Gly567=)
c.1116G>A (p.Gly372=)
c.1827G>A (p.Gly609=)
c.1053G>A (p.Gly351=)
c.1020G>A (p.Gly340=)
n.2054G>A
c.1233G>A (p.Gly411=)
n.2048G>A
 ClinVar gnomAD v4
Xg.53250846C>ACA10420006IQSEC2c.1889G>T (p.Gly630Val)
c.1730G>T (p.Gly577Val)
c.1700G>T (p.Gly567Val)
c.1115G>T (p.Gly372Val)
c.1826G>T (p.Gly609Val)
c.1052G>T (p.Gly351Val)
c.1019G>T (p.Gly340Val)
n.2053G>T
c.1232G>T (p.Gly411Val)
n.2047G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250846C=CA2429775654IQSEC2c.1889G= (p.Gly630=)
c.1730G= (p.Gly577=)
c.1700G= (p.Gly567=)
c.1115G= (p.Gly372=)
c.1826G= (p.Gly609=)
c.1052G= (p.Gly351=)
c.1019G= (p.Gly340=)
n.2053G=
c.1232G= (p.Gly411=)
n.2047G=
Xg.53250846C>GCA413164162IQSEC2c.1889G>C (p.Gly630Ala)
c.1730G>C (p.Gly577Ala)
c.1700G>C (p.Gly567Ala)
c.1115G>C (p.Gly372Ala)
c.1826G>C (p.Gly609Ala)
c.1052G>C (p.Gly351Ala)
c.1019G>C (p.Gly340Ala)
n.2053G>C
c.1232G>C (p.Gly411Ala)
n.2047G>C
Xg.53250846C>TCA413164166IQSEC2c.1889G>A (p.Gly630Glu)
c.1730G>A (p.Gly577Glu)
c.1700G>A (p.Gly567Glu)
c.1115G>A (p.Gly372Glu)
c.1826G>A (p.Gly609Glu)
c.1052G>A (p.Gly351Glu)
c.1019G>A (p.Gly340Glu)
n.2053G>A
c.1232G>A (p.Gly411Glu)
n.2047G>A
 dbSNP
Xg.53250847C>ACA413164192IQSEC2c.1888G>T (p.Gly630Trp)
c.1729G>T (p.Gly577Trp)
c.1699G>T (p.Gly567Trp)
c.1114G>T (p.Gly372Trp)
c.1825G>T (p.Gly609Trp)
c.1051G>T (p.Gly351Trp)
c.1018G>T (p.Gly340Trp)
n.2052G>T
c.1231G>T (p.Gly411Trp)
n.2046G>T
 gnomAD v4
Xg.53250847C=CA2429775655IQSEC2c.1888G= (p.Gly630=)
c.1729G= (p.Gly577=)
c.1699G= (p.Gly567=)
c.1114G= (p.Gly372=)
c.1825G= (p.Gly609=)
c.1051G= (p.Gly351=)
c.1018G= (p.Gly340=)
n.2052G=
c.1231G= (p.Gly411=)
n.2046G=
Xg.53250847C>GCA413164195IQSEC2c.1888G>C (p.Gly630Arg)
c.1729G>C (p.Gly577Arg)
c.1699G>C (p.Gly567Arg)
c.1114G>C (p.Gly372Arg)
c.1825G>C (p.Gly609Arg)
c.1051G>C (p.Gly351Arg)
c.1018G>C (p.Gly340Arg)
n.2052G>C
c.1231G>C (p.Gly411Arg)
n.2046G>C
Xg.53250847C>TCA10420007IQSEC2c.1888G>A (p.Gly630Arg)
c.1729G>A (p.Gly577Arg)
c.1699G>A (p.Gly567Arg)
c.1114G>A (p.Gly372Arg)
c.1825G>A (p.Gly609Arg)
c.1051G>A (p.Gly351Arg)
c.1018G>A (p.Gly340Arg)
n.2052G>A
c.1231G>A (p.Gly411Arg)
n.2046G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250848G>ACA10420008IQSEC2c.1887C>T (p.Pro629=)
c.1728C>T (p.Pro576=)
c.1698C>T (p.Pro566=)
c.1113C>T (p.Pro371=)
c.1824C>T (p.Pro608=)
c.1050C>T (p.Pro350=)
c.1017C>T (p.Pro339=)
n.2051C>T
c.1230C>T (p.Pro410=)
n.2045C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250848G>CCA516674075IQSEC2c.1887C>G (p.Pro629=)
c.1728C>G (p.Pro576=)
c.1698C>G (p.Pro566=)
c.1113C>G (p.Pro371=)
c.1824C>G (p.Pro608=)
c.1050C>G (p.Pro350=)
c.1017C>G (p.Pro339=)
n.2051C>G
c.1230C>G (p.Pro410=)
n.2045C>G
Xg.53250848G=CA2429775656IQSEC2c.1887C= (p.Pro629=)
c.1728C= (p.Pro576=)
c.1698C= (p.Pro566=)
c.1113C= (p.Pro371=)
c.1824C= (p.Pro608=)
c.1050C= (p.Pro350=)
c.1017C= (p.Pro339=)
n.2051C=
c.1230C= (p.Pro410=)
n.2045C=
Xg.53250848G>TCA516674074IQSEC2c.1887C>A (p.Pro629=)
c.1728C>A (p.Pro576=)
c.1698C>A (p.Pro566=)
c.1113C>A (p.Pro371=)
c.1824C>A (p.Pro608=)
c.1050C>A (p.Pro350=)
c.1017C>A (p.Pro339=)
n.2051C>A
c.1230C>A (p.Pro410=)
n.2045C>A
 COSMIC COSMIC COSMIC
Xg.53250849G>ACA413164242IQSEC2c.1886C>T (p.Pro629Leu)
c.1727C>T (p.Pro576Leu)
c.1697C>T (p.Pro566Leu)
c.1112C>T (p.Pro371Leu)
c.1823C>T (p.Pro608Leu)
c.1049C>T (p.Pro350Leu)
c.1016C>T (p.Pro339Leu)
n.2050C>T
c.1229C>T (p.Pro410Leu)
n.2044C>T
 gnomAD v4
Xg.53250849G>CCA413164212IQSEC2c.1886C>G (p.Pro629Arg)
c.1727C>G (p.Pro576Arg)
c.1697C>G (p.Pro566Arg)
c.1112C>G (p.Pro371Arg)
c.1823C>G (p.Pro608Arg)
c.1049C>G (p.Pro350Arg)
c.1016C>G (p.Pro339Arg)
n.2050C>G
c.1229C>G (p.Pro410Arg)
n.2044C>G
Xg.53250849G>TCA413164239IQSEC2c.1886C>A (p.Pro629His)
c.1727C>A (p.Pro576His)
c.1697C>A (p.Pro566His)
c.1112C>A (p.Pro371His)
c.1823C>A (p.Pro608His)
c.1049C>A (p.Pro350His)
c.1016C>A (p.Pro339His)
n.2050C>A
c.1229C>A (p.Pro410His)
n.2044C>A
Xg.53250850G>ACA413164248IQSEC2c.1885C>T (p.Pro629Ser)
c.1726C>T (p.Pro576Ser)
c.1696C>T (p.Pro566Ser)
c.1111C>T (p.Pro371Ser)
c.1822C>T (p.Pro608Ser)
c.1048C>T (p.Pro350Ser)
c.1015C>T (p.Pro339Ser)
n.2049C>T
c.1228C>T (p.Pro410Ser)
n.2043C>T
 COSMIC COSMIC COSMIC
Xg.53250850G>CCA413164251IQSEC2c.1885C>G (p.Pro629Ala)
c.1726C>G (p.Pro576Ala)
c.1696C>G (p.Pro566Ala)
c.1111C>G (p.Pro371Ala)
c.1822C>G (p.Pro608Ala)
c.1048C>G (p.Pro350Ala)
c.1015C>G (p.Pro339Ala)
n.2049C>G
c.1228C>G (p.Pro410Ala)
n.2043C>G
 gnomAD v4
Xg.53250850G>TCA413164256IQSEC2c.1885C>A (p.Pro629Thr)
c.1726C>A (p.Pro576Thr)
c.1696C>A (p.Pro566Thr)
c.1111C>A (p.Pro371Thr)
c.1822C>A (p.Pro608Thr)
c.1048C>A (p.Pro350Thr)
c.1015C>A (p.Pro339Thr)
n.2049C>A
c.1228C>A (p.Pro410Thr)
n.2043C>A
Xg.53250851A>CCA516674077IQSEC2c.1884T>G (p.Gly628=)
c.1725T>G (p.Gly575=)
c.1695T>G (p.Gly565=)
c.1110T>G (p.Gly370=)
c.1821T>G (p.Gly607=)
c.1047T>G (p.Gly349=)
c.1014T>G (p.Gly338=)
n.2048T>G
c.1227T>G (p.Gly409=)
n.2042T>G
Xg.53250851A>GCA516674078IQSEC2c.1884T>C (p.Gly628=)
c.1725T>C (p.Gly575=)
c.1695T>C (p.Gly565=)
c.1110T>C (p.Gly370=)
c.1821T>C (p.Gly607=)
c.1047T>C (p.Gly349=)
c.1014T>C (p.Gly338=)
n.2048T>C
c.1227T>C (p.Gly409=)
n.2042T>C
 gnomAD v4
Xg.53250851A>TCA516674079IQSEC2c.1884T>A (p.Gly628=)
c.1725T>A (p.Gly575=)
c.1695T>A (p.Gly565=)
c.1110T>A (p.Gly370=)
c.1821T>A (p.Gly607=)
c.1047T>A (p.Gly349=)
c.1014T>A (p.Gly338=)
n.2048T>A
c.1227T>A (p.Gly409=)
n.2042T>A
Xg.53250852C>ACA413164264IQSEC2c.1883G>T (p.Gly628Val)
c.1724G>T (p.Gly575Val)
c.1694G>T (p.Gly565Val)
c.1109G>T (p.Gly370Val)
c.1820G>T (p.Gly607Val)
c.1046G>T (p.Gly349Val)
c.1013G>T (p.Gly338Val)
n.2047G>T
c.1226G>T (p.Gly409Val)
n.2041G>T
Xg.53250852C>GCA413164267IQSEC2c.1883G>C (p.Gly628Ala)
c.1724G>C (p.Gly575Ala)
c.1694G>C (p.Gly565Ala)
c.1109G>C (p.Gly370Ala)
c.1820G>C (p.Gly607Ala)
c.1046G>C (p.Gly349Ala)
c.1013G>C (p.Gly338Ala)
n.2047G>C
c.1226G>C (p.Gly409Ala)
n.2041G>C
Xg.53250852C>TCA413164271IQSEC2c.1883G>A (p.Gly628Asp)
c.1724G>A (p.Gly575Asp)
c.1694G>A (p.Gly565Asp)
c.1109G>A (p.Gly370Asp)
c.1820G>A (p.Gly607Asp)
c.1046G>A (p.Gly349Asp)
c.1013G>A (p.Gly338Asp)
n.2047G>A
c.1226G>A (p.Gly409Asp)
n.2041G>A
Xg.53250853C>ACA413164278IQSEC2c.1882G>T (p.Gly628Cys)
c.1723G>T (p.Gly575Cys)
c.1693G>T (p.Gly565Cys)
c.1108G>T (p.Gly370Cys)
c.1819G>T (p.Gly607Cys)
c.1045G>T (p.Gly349Cys)
c.1012G>T (p.Gly338Cys)
n.2046G>T
c.1225G>T (p.Gly409Cys)
n.2040G>T
Xg.53250853C>GCA413164282IQSEC2c.1882G>C (p.Gly628Arg)
c.1723G>C (p.Gly575Arg)
c.1693G>C (p.Gly565Arg)
c.1108G>C (p.Gly370Arg)
c.1819G>C (p.Gly607Arg)
c.1045G>C (p.Gly349Arg)
c.1012G>C (p.Gly338Arg)
n.2046G>C
c.1225G>C (p.Gly409Arg)
n.2040G>C
Xg.53250853C>TCA413164305IQSEC2c.1882G>A (p.Gly628Ser)
c.1723G>A (p.Gly575Ser)
c.1693G>A (p.Gly565Ser)
c.1108G>A (p.Gly370Ser)
c.1819G>A (p.Gly607Ser)
c.1045G>A (p.Gly349Ser)
c.1012G>A (p.Gly338Ser)
n.2046G>A
c.1225G>A (p.Gly409Ser)
n.2040G>A
Xg.53250854C>ACA413164310IQSEC2c.1881G>T (p.Arg627Ser)
c.1722G>T (p.Arg574Ser)
c.1692G>T (p.Arg564Ser)
c.1107G>T (p.Arg369Ser)
c.1818G>T (p.Arg606Ser)
c.1044G>T (p.Arg348Ser)
c.1011G>T (p.Arg337Ser)
n.2045G>T
c.1224G>T (p.Arg408Ser)
n.2039G>T
Xg.53250854C>GCA413164314IQSEC2c.1881G>C (p.Arg627Ser)
c.1722G>C (p.Arg574Ser)
c.1692G>C (p.Arg564Ser)
c.1107G>C (p.Arg369Ser)
c.1818G>C (p.Arg606Ser)
c.1044G>C (p.Arg348Ser)
c.1011G>C (p.Arg337Ser)
n.2045G>C
c.1224G>C (p.Arg408Ser)
n.2039G>C
Xg.53250854C>TCA516674081IQSEC2c.1881G>A (p.Arg627=)
c.1722G>A (p.Arg574=)
c.1692G>A (p.Arg564=)
c.1107G>A (p.Arg369=)
c.1818G>A (p.Arg606=)
c.1044G>A (p.Arg348=)
c.1011G>A (p.Arg337=)
n.2045G>A
c.1224G>A (p.Arg408=)
n.2039G>A
Xg.53250855C>ACA413164328IQSEC2c.1880G>T (p.Arg627Met)
c.1721G>T (p.Arg574Met)
c.1691G>T (p.Arg564Met)
c.1106G>T (p.Arg369Met)
c.1817G>T (p.Arg606Met)
c.1043G>T (p.Arg348Met)
c.1010G>T (p.Arg337Met)
n.2044G>T
c.1223G>T (p.Arg408Met)
n.2038G>T
Xg.53250855C=CA2429775657IQSEC2c.1880G= (p.Arg627=)
c.1721G= (p.Arg574=)
c.1691G= (p.Arg564=)
c.1106G= (p.Arg369=)
c.1817G= (p.Arg606=)
c.1043G= (p.Arg348=)
c.1010G= (p.Arg337=)
n.2044G=
c.1223G= (p.Arg408=)
n.2038G=
Xg.53250855C>GCA413164323IQSEC2c.1880G>C (p.Arg627Thr)
c.1721G>C (p.Arg574Thr)
c.1691G>C (p.Arg564Thr)
c.1106G>C (p.Arg369Thr)
c.1817G>C (p.Arg606Thr)
c.1043G>C (p.Arg348Thr)
c.1010G>C (p.Arg337Thr)
n.2044G>C
c.1223G>C (p.Arg408Thr)
n.2038G>C
Xg.53250855C>TCA413164319IQSEC2c.1880G>A (p.Arg627Lys)
c.1721G>A (p.Arg574Lys)
c.1691G>A (p.Arg564Lys)
c.1106G>A (p.Arg369Lys)
c.1817G>A (p.Arg606Lys)
c.1043G>A (p.Arg348Lys)
c.1010G>A (p.Arg337Lys)
n.2044G>A
c.1223G>A (p.Arg408Lys)
n.2038G>A
 ClinVar dbSNP gnomAD v4
Xg.53250856T>ACA413164337IQSEC2c.1879A>T (p.Arg627Trp)
c.1720A>T (p.Arg574Trp)
c.1690A>T (p.Arg564Trp)
c.1105A>T (p.Arg369Trp)
c.1816A>T (p.Arg606Trp)
c.1042A>T (p.Arg348Trp)
c.1009A>T (p.Arg337Trp)
n.2043A>T
c.1222A>T (p.Arg408Trp)
n.2037A>T
Xg.53250856T>CCA413164339IQSEC2c.1879A>G (p.Arg627Gly)
c.1720A>G (p.Arg574Gly)
c.1690A>G (p.Arg564Gly)
c.1105A>G (p.Arg369Gly)
c.1816A>G (p.Arg606Gly)
c.1042A>G (p.Arg348Gly)
c.1009A>G (p.Arg337Gly)
n.2043A>G
c.1222A>G (p.Arg408Gly)
n.2037A>G
Xg.53250856T>GCA516674085IQSEC2c.1879A>C (p.Arg627=)
c.1720A>C (p.Arg574=)
c.1690A>C (p.Arg564=)
c.1105A>C (p.Arg369=)
c.1816A>C (p.Arg606=)
c.1042A>C (p.Arg348=)
c.1009A>C (p.Arg337=)
n.2043A>C
c.1222A>C (p.Arg408=)
n.2037A>C
Xg.53250857G>ACA516674086IQSEC2c.1878C>T (p.Arg626=)
c.1719C>T (p.Arg573=)
c.1689C>T (p.Arg563=)
c.1104C>T (p.Arg368=)
c.1815C>T (p.Arg605=)
c.1041C>T (p.Arg347=)
c.1008C>T (p.Arg336=)
n.2042C>T
c.1221C>T (p.Arg407=)
n.2036C>T
Xg.53250857G>CCA516674087IQSEC2c.1878C>G (p.Arg626=)
c.1719C>G (p.Arg573=)
c.1689C>G (p.Arg563=)
c.1104C>G (p.Arg368=)
c.1815C>G (p.Arg605=)
c.1041C>G (p.Arg347=)
c.1008C>G (p.Arg336=)
n.2042C>G
c.1221C>G (p.Arg407=)
n.2036C>G
Xg.53250857G>TCA516674088IQSEC2c.1878C>A (p.Arg626=)
c.1719C>A (p.Arg573=)
c.1689C>A (p.Arg563=)
c.1104C>A (p.Arg368=)
c.1815C>A (p.Arg605=)
c.1041C>A (p.Arg347=)
c.1008C>A (p.Arg336=)
n.2042C>A
c.1221C>A (p.Arg407=)
n.2036C>A
Xg.53250858C>ACA413164343IQSEC2c.1877G>T (p.Arg626Leu)
c.1718G>T (p.Arg573Leu)
c.1688G>T (p.Arg563Leu)
c.1103G>T (p.Arg368Leu)
c.1814G>T (p.Arg605Leu)
c.1040G>T (p.Arg347Leu)
c.1007G>T (p.Arg336Leu)
n.2041G>T
c.1220G>T (p.Arg407Leu)
n.2035G>T
Xg.53250858C=CA2429775658IQSEC2c.1877G= (p.Arg626=)
c.1718G= (p.Arg573=)
c.1688G= (p.Arg563=)
c.1103G= (p.Arg368=)
c.1814G= (p.Arg605=)
c.1040G= (p.Arg347=)
c.1007G= (p.Arg336=)
n.2041G=
c.1220G= (p.Arg407=)
n.2035G=
Xg.53250858C>GCA413164345IQSEC2c.1877G>C (p.Arg626Pro)
c.1718G>C (p.Arg573Pro)
c.1688G>C (p.Arg563Pro)
c.1103G>C (p.Arg368Pro)
c.1814G>C (p.Arg605Pro)
c.1040G>C (p.Arg347Pro)
c.1007G>C (p.Arg336Pro)
n.2041G>C
c.1220G>C (p.Arg407Pro)
n.2035G>C
Xg.53250858C>TCA413164346IQSEC2c.1877G>A (p.Arg626His)
c.1718G>A (p.Arg573His)
c.1688G>A (p.Arg563His)
c.1103G>A (p.Arg368His)
c.1814G>A (p.Arg605His)
c.1040G>A (p.Arg347His)
c.1007G>A (p.Arg336His)
n.2041G>A
c.1220G>A (p.Arg407His)
n.2035G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53250859G>ACA413164347IQSEC2c.1876C>T (p.Arg626Cys)
c.1717C>T (p.Arg573Cys)
c.1687C>T (p.Arg563Cys)
c.1102C>T (p.Arg368Cys)
c.1813C>T (p.Arg605Cys)
c.1039C>T (p.Arg347Cys)
c.1006C>T (p.Arg336Cys)
n.2040C>T
c.1219C>T (p.Arg407Cys)
n.2034C>T
 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250859G>CCA413164349IQSEC2c.1876C>G (p.Arg626Gly)
c.1717C>G (p.Arg573Gly)
c.1687C>G (p.Arg563Gly)
c.1102C>G (p.Arg368Gly)
c.1813C>G (p.Arg605Gly)
c.1039C>G (p.Arg347Gly)
c.1006C>G (p.Arg336Gly)
n.2040C>G
c.1219C>G (p.Arg407Gly)
n.2034C>G
Xg.53250859G>TCA413164351IQSEC2c.1876C>A (p.Arg626Ser)
c.1717C>A (p.Arg573Ser)
c.1687C>A (p.Arg563Ser)
c.1102C>A (p.Arg368Ser)
c.1813C>A (p.Arg605Ser)
c.1039C>A (p.Arg347Ser)
c.1006C>A (p.Arg336Ser)
n.2040C>A
c.1219C>A (p.Arg407Ser)
n.2034C>A
Xg.53250860A>CCA516674094IQSEC2c.1875T>G (p.Thr625=)
c.1716T>G (p.Thr572=)
c.1686T>G (p.Thr562=)
c.1101T>G (p.Thr367=)
c.1812T>G (p.Thr604=)
c.1038T>G (p.Thr346=)
c.1005T>G (p.Thr335=)
n.2039T>G
c.1218T>G (p.Thr406=)
n.2033T>G
Xg.53250860A>GCA516674092IQSEC2c.1875T>C (p.Thr625=)
c.1716T>C (p.Thr572=)
c.1686T>C (p.Thr562=)
c.1101T>C (p.Thr367=)
c.1812T>C (p.Thr604=)
c.1038T>C (p.Thr346=)
c.1005T>C (p.Thr335=)
n.2039T>C
c.1218T>C (p.Thr406=)
n.2033T>C
Xg.53250860A>TCA516674093IQSEC2c.1875T>A (p.Thr625=)
c.1716T>A (p.Thr572=)
c.1686T>A (p.Thr562=)
c.1101T>A (p.Thr367=)
c.1812T>A (p.Thr604=)
c.1038T>A (p.Thr346=)
c.1005T>A (p.Thr335=)
n.2039T>A
c.1218T>A (p.Thr406=)
n.2033T>A
Xg.53250861G>ACA413164354IQSEC2c.1874C>T (p.Thr625Ile)
c.1715C>T (p.Thr572Ile)
c.1685C>T (p.Thr562Ile)
c.1100C>T (p.Thr367Ile)
c.1811C>T (p.Thr604Ile)
c.1037C>T (p.Thr346Ile)
c.1004C>T (p.Thr335Ile)
n.2038C>T
c.1217C>T (p.Thr406Ile)
n.2032C>T
 gnomAD v4
Xg.53250861G>CCA413164357IQSEC2c.1874C>G (p.Thr625Ser)
c.1715C>G (p.Thr572Ser)
c.1685C>G (p.Thr562Ser)
c.1100C>G (p.Thr367Ser)
c.1811C>G (p.Thr604Ser)
c.1037C>G (p.Thr346Ser)
c.1004C>G (p.Thr335Ser)
n.2038C>G
c.1217C>G (p.Thr406Ser)
n.2032C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53250861G=CA2429775659IQSEC2c.1874C= (p.Thr625=)
c.1715C= (p.Thr572=)
c.1685C= (p.Thr562=)
c.1100C= (p.Thr367=)
c.1811C= (p.Thr604=)
c.1037C= (p.Thr346=)
c.1004C= (p.Thr335=)
n.2038C=
c.1217C= (p.Thr406=)
n.2032C=
Xg.53250861G>TCA413164360IQSEC2c.1874C>A (p.Thr625Asn)
c.1715C>A (p.Thr572Asn)
c.1685C>A (p.Thr562Asn)
c.1100C>A (p.Thr367Asn)
c.1811C>A (p.Thr604Asn)
c.1037C>A (p.Thr346Asn)
c.1004C>A (p.Thr335Asn)
n.2038C>A
c.1217C>A (p.Thr406Asn)
n.2032C>A
Xg.53250862T>ACA413164365IQSEC2c.1873A>T (p.Thr625Ser)
c.1714A>T (p.Thr572Ser)
c.1684A>T (p.Thr562Ser)
c.1099A>T (p.Thr367Ser)
c.1810A>T (p.Thr604Ser)
c.1036A>T (p.Thr346Ser)
c.1003A>T (p.Thr335Ser)
n.2037A>T
c.1216A>T (p.Thr406Ser)
n.2031A>T
Xg.53250862T>CCA413164367IQSEC2c.1873A>G (p.Thr625Ala)
c.1714A>G (p.Thr572Ala)
c.1684A>G (p.Thr562Ala)
c.1099A>G (p.Thr367Ala)
c.1810A>G (p.Thr604Ala)
c.1036A>G (p.Thr346Ala)
c.1003A>G (p.Thr335Ala)
n.2037A>G
c.1216A>G (p.Thr406Ala)
n.2031A>G
Xg.53250862T>GCA413164370IQSEC2c.1873A>C (p.Thr625Pro)
c.1714A>C (p.Thr572Pro)
c.1684A>C (p.Thr562Pro)
c.1099A>C (p.Thr367Pro)
c.1810A>C (p.Thr604Pro)
c.1036A>C (p.Thr346Pro)
c.1003A>C (p.Thr335Pro)
n.2037A>C
c.1216A>C (p.Thr406Pro)
n.2031A>C
Xg.53250863G>ACA516674097IQSEC2c.1872C>T (p.Gly624=)
c.1713C>T (p.Gly571=)
c.1683C>T (p.Gly561=)
c.1098C>T (p.Gly366=)
c.1809C>T (p.Gly603=)
c.1035C>T (p.Gly345=)
c.1002C>T (p.Gly334=)
n.2036C>T
c.1215C>T (p.Gly405=)
n.2030C>T
Xg.53250863G>CCA516674098IQSEC2c.1872C>G (p.Gly624=)
c.1713C>G (p.Gly571=)
c.1683C>G (p.Gly561=)
c.1098C>G (p.Gly366=)
c.1809C>G (p.Gly603=)
c.1035C>G (p.Gly345=)
c.1002C>G (p.Gly334=)
n.2036C>G
c.1215C>G (p.Gly405=)
n.2030C>G
Xg.53250863G>TCA516674099IQSEC2c.1872C>A (p.Gly624=)
c.1713C>A (p.Gly571=)
c.1683C>A (p.Gly561=)
c.1098C>A (p.Gly366=)
c.1809C>A (p.Gly603=)
c.1035C>A (p.Gly345=)
c.1002C>A (p.Gly334=)
n.2036C>A
c.1215C>A (p.Gly405=)
n.2030C>A
Xg.53250864C>ACA413164381IQSEC2c.1871G>T (p.Gly624Val)
c.1712G>T (p.Gly571Val)
c.1682G>T (p.Gly561Val)
c.1097G>T (p.Gly366Val)
c.1808G>T (p.Gly603Val)
c.1034G>T (p.Gly345Val)
c.1001G>T (p.Gly334Val)
n.2035G>T
c.1214G>T (p.Gly405Val)
n.2029G>T
 ClinVar dbSNP
Xg.53250864C=CA2429775660IQSEC2c.1871G= (p.Gly624=)
c.1712G= (p.Gly571=)
c.1682G= (p.Gly561=)
c.1097G= (p.Gly366=)
c.1808G= (p.Gly603=)
c.1034G= (p.Gly345=)
c.1001G= (p.Gly334=)
n.2035G=
c.1214G= (p.Gly405=)
n.2029G=
Xg.53250864C>GCA413164384IQSEC2c.1871G>C (p.Gly624Ala)
c.1712G>C (p.Gly571Ala)
c.1682G>C (p.Gly561Ala)
c.1097G>C (p.Gly366Ala)
c.1808G>C (p.Gly603Ala)
c.1034G>C (p.Gly345Ala)
c.1001G>C (p.Gly334Ala)
n.2035G>C
c.1214G>C (p.Gly405Ala)
n.2029G>C
Xg.53250864C>TCA413164374IQSEC2c.1871G>A (p.Gly624Asp)
c.1712G>A (p.Gly571Asp)
c.1682G>A (p.Gly561Asp)
c.1097G>A (p.Gly366Asp)
c.1808G>A (p.Gly603Asp)
c.1034G>A (p.Gly345Asp)
c.1001G>A (p.Gly334Asp)
n.2035G>A
c.1214G>A (p.Gly405Asp)
n.2029G>A
 ClinVar dbSNP gnomAD v4
Xg.53250865C>ACA413164388IQSEC2c.1870G>T (p.Gly624Cys)
c.1711G>T (p.Gly571Cys)
c.1681G>T (p.Gly561Cys)
c.1096G>T (p.Gly366Cys)
c.1807G>T (p.Gly603Cys)
c.1033G>T (p.Gly345Cys)
c.1000G>T (p.Gly334Cys)
n.2034G>T
c.1213G>T (p.Gly405Cys)
n.2028G>T
Xg.53250865C=CA2429775661IQSEC2c.1870G= (p.Gly624=)
c.1711G= (p.Gly571=)
c.1681G= (p.Gly561=)
c.1096G= (p.Gly366=)
c.1807G= (p.Gly603=)
c.1033G= (p.Gly345=)
c.1000G= (p.Gly334=)
n.2034G=
c.1213G= (p.Gly405=)
n.2028G=
Xg.53250865C>GCA413164391IQSEC2c.1870G>C (p.Gly624Arg)
c.1711G>C (p.Gly571Arg)
c.1681G>C (p.Gly561Arg)
c.1096G>C (p.Gly366Arg)
c.1807G>C (p.Gly603Arg)
c.1033G>C (p.Gly345Arg)
c.1000G>C (p.Gly334Arg)
n.2034G>C
c.1213G>C (p.Gly405Arg)
n.2028G>C
Xg.53250865C>TCA246022IQSEC2c.1870G>A (p.Gly624Ser)
c.1711G>A (p.Gly571Ser)
c.1681G>A (p.Gly561Ser)
c.1096G>A (p.Gly366Ser)
c.1807G>A (p.Gly603Ser)
c.1033G>A (p.Gly345Ser)
c.1000G>A (p.Gly334Ser)
n.2034G>A
c.1213G>A (p.Gly405Ser)
n.2028G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250866T>ACA413164398IQSEC2c.1869A>T (p.Glu623Asp)
c.1710A>T (p.Glu570Asp)
c.1680A>T (p.Glu560Asp)
c.1095A>T (p.Glu365Asp)
c.1806A>T (p.Glu602Asp)
c.1032A>T (p.Glu344Asp)
c.999A>T (p.Glu333Asp)
n.2033A>T
c.1212A>T (p.Glu404Asp)
n.2027A>T
Xg.53250866T>CCA516674103IQSEC2c.1869A>G (p.Glu623=)
c.1710A>G (p.Glu570=)
c.1680A>G (p.Glu560=)
c.1095A>G (p.Glu365=)
c.1806A>G (p.Glu602=)
c.1032A>G (p.Glu344=)
c.999A>G (p.Glu333=)
n.2033A>G
c.1212A>G (p.Glu404=)
n.2027A>G
Xg.53250866T>GCA413164401IQSEC2c.1869A>C (p.Glu623Asp)
c.1710A>C (p.Glu570Asp)
c.1680A>C (p.Glu560Asp)
c.1095A>C (p.Glu365Asp)
c.1806A>C (p.Glu602Asp)
c.1032A>C (p.Glu344Asp)
c.999A>C (p.Glu333Asp)
n.2033A>C
c.1212A>C (p.Glu404Asp)
n.2027A>C
Xg.53250867T>ACA413164403IQSEC2c.1868A>T (p.Glu623Val)
c.1709A>T (p.Glu570Val)
c.1679A>T (p.Glu560Val)
c.1094A>T (p.Glu365Val)
c.1805A>T (p.Glu602Val)
c.1031A>T (p.Glu344Val)
c.998A>T (p.Glu333Val)
n.2032A>T
c.1211A>T (p.Glu404Val)
n.2026A>T
Xg.53250867T>CCA413164406IQSEC2c.1868A>G (p.Glu623Gly)
c.1709A>G (p.Glu570Gly)
c.1679A>G (p.Glu560Gly)
c.1094A>G (p.Glu365Gly)
c.1805A>G (p.Glu602Gly)
c.1031A>G (p.Glu344Gly)
c.998A>G (p.Glu333Gly)
n.2032A>G
c.1211A>G (p.Glu404Gly)
n.2026A>G
 dbSNP gnomAD v3 gnomAD v4
Xg.53250867T>GCA413164410IQSEC2c.1868A>C (p.Glu623Ala)
c.1709A>C (p.Glu570Ala)
c.1679A>C (p.Glu560Ala)
c.1094A>C (p.Glu365Ala)
c.1805A>C (p.Glu602Ala)
c.1031A>C (p.Glu344Ala)
c.998A>C (p.Glu333Ala)
n.2032A>C
c.1211A>C (p.Glu404Ala)
n.2026A>C
Xg.53250867T=CA2429775662IQSEC2c.1868A= (p.Glu623=)
c.1709A= (p.Glu570=)
c.1679A= (p.Glu560=)
c.1094A= (p.Glu365=)
c.1805A= (p.Glu602=)
c.1031A= (p.Glu344=)
c.998A= (p.Glu333=)
n.2032A=
c.1211A= (p.Glu404=)
n.2026A=
Xg.53250868C>ACA413164414IQSEC2c.1867G>T (p.Glu623Ter)
c.1708G>T (p.Glu570Ter)
c.1678G>T (p.Glu560Ter)
c.1093G>T (p.Glu365Ter)
c.1804G>T (p.Glu602Ter)
c.1030G>T (p.Glu344Ter)
c.997G>T (p.Glu333Ter)
n.2031G>T
c.1210G>T (p.Glu404Ter)
n.2025G>T
Xg.53250868C>GCA413164417IQSEC2c.1867G>C (p.Glu623Gln)
c.1708G>C (p.Glu570Gln)
c.1678G>C (p.Glu560Gln)
c.1093G>C (p.Glu365Gln)
c.1804G>C (p.Glu602Gln)
c.1030G>C (p.Glu344Gln)
c.997G>C (p.Glu333Gln)
n.2031G>C
c.1210G>C (p.Glu404Gln)
n.2025G>C
Xg.53250868C>TCA413164419IQSEC2c.1867G>A (p.Glu623Lys)
c.1708G>A (p.Glu570Lys)
c.1678G>A (p.Glu560Lys)
c.1093G>A (p.Glu365Lys)
c.1804G>A (p.Glu602Lys)
c.1030G>A (p.Glu344Lys)
c.997G>A (p.Glu333Lys)
n.2031G>A
c.1210G>A (p.Glu404Lys)
n.2025G>A
 ClinVar dbSNP
Xg.53250869C>ACA413164423IQSEC2c.1866G>T (p.Glu622Asp)
c.1707G>T (p.Glu569Asp)
c.1677G>T (p.Glu559Asp)
c.1092G>T (p.Glu364Asp)
c.1803G>T (p.Glu601Asp)
c.1029G>T (p.Glu343Asp)
c.996G>T (p.Glu332Asp)
n.2030G>T
c.1209G>T (p.Glu403Asp)
n.2024G>T
 COSMIC COSMIC
Xg.53250869C>GCA413164425IQSEC2c.1866G>C (p.Glu622Asp)
c.1707G>C (p.Glu569Asp)
c.1677G>C (p.Glu559Asp)
c.1092G>C (p.Glu364Asp)
c.1803G>C (p.Glu601Asp)
c.1029G>C (p.Glu343Asp)
c.996G>C (p.Glu332Asp)
n.2030G>C
c.1209G>C (p.Glu403Asp)
n.2024G>C
Xg.53250869C>TCA516674104IQSEC2c.1866G>A (p.Glu622=)
c.1707G>A (p.Glu569=)
c.1677G>A (p.Glu559=)
c.1092G>A (p.Glu364=)
c.1803G>A (p.Glu601=)
c.1029G>A (p.Glu343=)
c.996G>A (p.Glu332=)
n.2030G>A
c.1209G>A (p.Glu403=)
n.2024G>A
Xg.53250870T>ACA413164435IQSEC2c.1865A>T (p.Glu622Val)
c.1706A>T (p.Glu569Val)
c.1676A>T (p.Glu559Val)
c.1091A>T (p.Glu364Val)
c.1802A>T (p.Glu601Val)
c.1028A>T (p.Glu343Val)
c.995A>T (p.Glu332Val)
n.2029A>T
c.1208A>T (p.Glu403Val)
n.2023A>T
Xg.53250870T>CCA413164429IQSEC2c.1865A>G (p.Glu622Gly)
c.1706A>G (p.Glu569Gly)
c.1676A>G (p.Glu559Gly)
c.1091A>G (p.Glu364Gly)
c.1802A>G (p.Glu601Gly)
c.1028A>G (p.Glu343Gly)
c.995A>G (p.Glu332Gly)
n.2029A>G
c.1208A>G (p.Glu403Gly)
n.2023A>G
Xg.53250870T>GCA413164432IQSEC2c.1865A>C (p.Glu622Ala)
c.1706A>C (p.Glu569Ala)
c.1676A>C (p.Glu559Ala)
c.1091A>C (p.Glu364Ala)
c.1802A>C (p.Glu601Ala)
c.1028A>C (p.Glu343Ala)
c.995A>C (p.Glu332Ala)
n.2029A>C
c.1208A>C (p.Glu403Ala)
n.2023A>C
Xg.53250871C>ACA413164440IQSEC2c.1864G>T (p.Glu622Ter)
c.1705G>T (p.Glu569Ter)
c.1675G>T (p.Glu559Ter)
c.1090G>T (p.Glu364Ter)
c.1801G>T (p.Glu601Ter)
c.1027G>T (p.Glu343Ter)
c.994G>T (p.Glu332Ter)
n.2028G>T
c.1207G>T (p.Glu403Ter)
n.2022G>T
Xg.53250871C=CA2429775663IQSEC2c.1864G= (p.Glu622=)
c.1705G= (p.Glu569=)
c.1675G= (p.Glu559=)
c.1090G= (p.Glu364=)
c.1801G= (p.Glu601=)
c.1027G= (p.Glu343=)
c.994G= (p.Glu332=)
n.2028G=
c.1207G= (p.Glu403=)
n.2022G=
Xg.53250871C>GCA413164442IQSEC2c.1864G>C (p.Glu622Gln)
c.1705G>C (p.Glu569Gln)
c.1675G>C (p.Glu559Gln)
c.1090G>C (p.Glu364Gln)
c.1801G>C (p.Glu601Gln)
c.1027G>C (p.Glu343Gln)
c.994G>C (p.Glu332Gln)
n.2028G>C
c.1207G>C (p.Glu403Gln)
n.2022G>C
Xg.53250871C>TCA413164446IQSEC2c.1864G>A (p.Glu622Lys)
c.1705G>A (p.Glu569Lys)
c.1675G>A (p.Glu559Lys)
c.1090G>A (p.Glu364Lys)
c.1801G>A (p.Glu601Lys)
c.1027G>A (p.Glu343Lys)
c.994G>A (p.Glu332Lys)
n.2028G>A
c.1207G>A (p.Glu403Lys)
n.2022G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53250872A=CA2429775664IQSEC2c.1863T= (p.Arg621=)
c.1704T= (p.Arg568=)
c.1674T= (p.Arg558=)
c.1089T= (p.Arg363=)
c.1800T= (p.Arg600=)
c.1026T= (p.Arg342=)
c.993T= (p.Arg331=)
n.2027T=
c.1206T= (p.Arg402=)
n.2021T=
Xg.53250872A>CCA516674108IQSEC2c.1863T>G (p.Arg621=)
c.1704T>G (p.Arg568=)
c.1674T>G (p.Arg558=)
c.1089T>G (p.Arg363=)
c.1800T>G (p.Arg600=)
c.1026T>G (p.Arg342=)
c.993T>G (p.Arg331=)
n.2027T>G
c.1206T>G (p.Arg402=)
n.2021T>G
Xg.53250872A>GCA516674109IQSEC2c.1863T>C (p.Arg621=)
c.1704T>C (p.Arg568=)
c.1674T>C (p.Arg558=)
c.1089T>C (p.Arg363=)
c.1800T>C (p.Arg600=)
c.1026T>C (p.Arg342=)
c.993T>C (p.Arg331=)
n.2027T>C
c.1206T>C (p.Arg402=)
n.2021T>C
 ClinVar dbSNP gnomAD v4
Xg.53250872A>TCA516674110IQSEC2c.1863T>A (p.Arg621=)
c.1704T>A (p.Arg568=)
c.1674T>A (p.Arg558=)
c.1089T>A (p.Arg363=)
c.1800T>A (p.Arg600=)
c.1026T>A (p.Arg342=)
c.993T>A (p.Arg331=)
n.2027T>A
c.1206T>A (p.Arg402=)
n.2021T>A
Xg.53250873C>ACA413164448IQSEC2c.1862G>T (p.Arg621Leu)
c.1703G>T (p.Arg568Leu)
c.1673G>T (p.Arg558Leu)
c.1088G>T (p.Arg363Leu)
c.1799G>T (p.Arg600Leu)
c.1025G>T (p.Arg342Leu)
c.992G>T (p.Arg331Leu)
n.2026G>T
c.1205G>T (p.Arg402Leu)
n.2020G>T
 dbSNP
Xg.53250873C=CA2429775665IQSEC2c.1862G= (p.Arg621=)
c.1703G= (p.Arg568=)
c.1673G= (p.Arg558=)
c.1088G= (p.Arg363=)
c.1799G= (p.Arg600=)
c.1025G= (p.Arg342=)
c.992G= (p.Arg331=)
n.2026G=
c.1205G= (p.Arg402=)
n.2020G=
Xg.53250873C>GCA413164450IQSEC2c.1862G>C (p.Arg621Pro)
c.1703G>C (p.Arg568Pro)
c.1673G>C (p.Arg558Pro)
c.1088G>C (p.Arg363Pro)
c.1799G>C (p.Arg600Pro)
c.1025G>C (p.Arg342Pro)
c.992G>C (p.Arg331Pro)
n.2026G>C
c.1205G>C (p.Arg402Pro)
n.2020G>C
Xg.53250873C>TCA413164452IQSEC2c.1862G>A (p.Arg621His)
c.1703G>A (p.Arg568His)
c.1673G>A (p.Arg558His)
c.1088G>A (p.Arg363His)
c.1799G>A (p.Arg600His)
c.1025G>A (p.Arg342His)
c.992G>A (p.Arg331His)
n.2026G>A
c.1205G>A (p.Arg402His)
n.2020G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53250874G>ACA10420009IQSEC2c.1861C>T (p.Arg621Cys)
c.1702C>T (p.Arg568Cys)
c.1672C>T (p.Arg558Cys)
c.1087C>T (p.Arg363Cys)
c.1798C>T (p.Arg600Cys)
c.1024C>T (p.Arg342Cys)
c.991C>T (p.Arg331Cys)
n.2025C>T
c.1204C>T (p.Arg402Cys)
n.2019C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250874G>CCA413164458IQSEC2c.1861C>G (p.Arg621Gly)
c.1702C>G (p.Arg568Gly)
c.1672C>G (p.Arg558Gly)
c.1087C>G (p.Arg363Gly)
c.1798C>G (p.Arg600Gly)
c.1024C>G (p.Arg342Gly)
c.991C>G (p.Arg331Gly)
n.2025C>G
c.1204C>G (p.Arg402Gly)
n.2019C>G
Xg.53250874G=CA2429775666IQSEC2c.1861C= (p.Arg621=)
c.1702C= (p.Arg568=)
c.1672C= (p.Arg558=)
c.1087C= (p.Arg363=)
c.1798C= (p.Arg600=)
c.1024C= (p.Arg342=)
c.991C= (p.Arg331=)
n.2025C=
c.1204C= (p.Arg402=)
n.2019C=
Xg.53250874G>TCA413164461IQSEC2c.1861C>A (p.Arg621Ser)
c.1702C>A (p.Arg568Ser)
c.1672C>A (p.Arg558Ser)
c.1087C>A (p.Arg363Ser)
c.1798C>A (p.Arg600Ser)
c.1024C>A (p.Arg342Ser)
c.991C>A (p.Arg331Ser)
n.2025C>A
c.1204C>A (p.Arg402Ser)
n.2019C>A
Xg.53250875G>ACA516674114IQSEC2c.1860C>T (p.Ser620=)
c.1701C>T (p.Ser567=)
c.1671C>T (p.Ser557=)
c.1086C>T (p.Ser362=)
c.1797C>T (p.Ser599=)
c.1023C>T (p.Ser341=)
c.990C>T (p.Ser330=)
n.2024C>T
c.1203C>T (p.Ser401=)
n.2018C>T
Xg.53250875G>CCA413164465IQSEC2c.1860C>G (p.Ser620Arg)
c.1701C>G (p.Ser567Arg)
c.1671C>G (p.Ser557Arg)
c.1086C>G (p.Ser362Arg)
c.1797C>G (p.Ser599Arg)
c.1023C>G (p.Ser341Arg)
c.990C>G (p.Ser330Arg)
n.2024C>G
c.1203C>G (p.Ser401Arg)
n.2018C>G
Xg.53250875G>TCA413164467IQSEC2c.1860C>A (p.Ser620Arg)
c.1701C>A (p.Ser567Arg)
c.1671C>A (p.Ser557Arg)
c.1086C>A (p.Ser362Arg)
c.1797C>A (p.Ser599Arg)
c.1023C>A (p.Ser341Arg)
c.990C>A (p.Ser330Arg)
n.2024C>A
c.1203C>A (p.Ser401Arg)
n.2018C>A
Xg.53250876C>ACA413164471IQSEC2c.1859G>T (p.Ser620Ile)
c.1700G>T (p.Ser567Ile)
c.1670G>T (p.Ser557Ile)
c.1085G>T (p.Ser362Ile)
c.1796G>T (p.Ser599Ile)
c.1022G>T (p.Ser341Ile)
c.989G>T (p.Ser330Ile)
n.2023G>T
c.1202G>T (p.Ser401Ile)
n.2017G>T
Xg.53250876C>GCA413164477IQSEC2c.1859G>C (p.Ser620Thr)
c.1700G>C (p.Ser567Thr)
c.1670G>C (p.Ser557Thr)
c.1085G>C (p.Ser362Thr)
c.1796G>C (p.Ser599Thr)
c.1022G>C (p.Ser341Thr)
c.989G>C (p.Ser330Thr)
n.2023G>C
c.1202G>C (p.Ser401Thr)
n.2017G>C
Xg.53250876C>TCA413164476IQSEC2c.1859G>A (p.Ser620Asn)
c.1700G>A (p.Ser567Asn)
c.1670G>A (p.Ser557Asn)
c.1085G>A (p.Ser362Asn)
c.1796G>A (p.Ser599Asn)
c.1022G>A (p.Ser341Asn)
c.989G>A (p.Ser330Asn)
n.2023G>A
c.1202G>A (p.Ser401Asn)
n.2017G>A
Xg.53250877T>ACA413164480IQSEC2c.1858A>T (p.Ser620Cys)
c.1699A>T (p.Ser567Cys)
c.1669A>T (p.Ser557Cys)
c.1084A>T (p.Ser362Cys)
c.1795A>T (p.Ser599Cys)
c.1021A>T (p.Ser341Cys)
c.988A>T (p.Ser330Cys)
n.2022A>T
c.1201A>T (p.Ser401Cys)
n.2016A>T
Xg.53250877T>CCA413164487IQSEC2c.1858A>G (p.Ser620Gly)
c.1699A>G (p.Ser567Gly)
c.1669A>G (p.Ser557Gly)
c.1084A>G (p.Ser362Gly)
c.1795A>G (p.Ser599Gly)
c.1021A>G (p.Ser341Gly)
c.988A>G (p.Ser330Gly)
n.2022A>G
c.1201A>G (p.Ser401Gly)
n.2016A>G
Xg.53250877T>GCA413164483IQSEC2c.1858A>C (p.Ser620Arg)
c.1699A>C (p.Ser567Arg)
c.1669A>C (p.Ser557Arg)
c.1084A>C (p.Ser362Arg)
c.1795A>C (p.Ser599Arg)
c.1021A>C (p.Ser341Arg)
c.988A>C (p.Ser330Arg)
n.2022A>C
c.1201A>C (p.Ser401Arg)
n.2016A>C
Xg.53250877T=CA2429775667IQSEC2c.1858A= (p.Ser620=)
c.1699A= (p.Ser567=)
c.1669A= (p.Ser557=)
c.1084A= (p.Ser362=)
c.1795A= (p.Ser599=)
c.1021A= (p.Ser341=)
c.988A= (p.Ser330=)
n.2022A=
c.1201A= (p.Ser401=)
n.2016A=
Xg.53250878A>CCA516674118IQSEC2c.1857T>G (p.Gly619=)
c.1698T>G (p.Gly566=)
c.1668T>G (p.Gly556=)
c.1083T>G (p.Gly361=)
c.1794T>G (p.Gly598=)
c.1020T>G (p.Gly340=)
c.987T>G (p.Gly329=)
n.2021T>G
c.1200T>G (p.Gly400=)
n.2015T>G
Xg.53250878A>GCA516674119IQSEC2c.1857T>C (p.Gly619=)
c.1698T>C (p.Gly566=)
c.1668T>C (p.Gly556=)
c.1083T>C (p.Gly361=)
c.1794T>C (p.Gly598=)
c.1020T>C (p.Gly340=)
c.987T>C (p.Gly329=)
n.2021T>C
c.1200T>C (p.Gly400=)
n.2015T>C
Xg.53250878A>TCA516674120IQSEC2c.1857T>A (p.Gly619=)
c.1698T>A (p.Gly566=)
c.1668T>A (p.Gly556=)
c.1083T>A (p.Gly361=)
c.1794T>A (p.Gly598=)
c.1020T>A (p.Gly340=)
c.987T>A (p.Gly329=)
n.2021T>A
c.1200T>A (p.Gly400=)
n.2015T>A
Xg.53250878dupCA2429775668IQSEC2c.1857dup (p.Ser620Ter)
c.1698dup (p.Ser567Ter)
c.1668dup (p.Ser557Ter)
c.1083dup (p.Ser362Ter)
c.1794dup (p.Ser599Ter)
c.1020dup (p.Ser341Ter)
c.987dup (p.Ser330Ter)
n.2021dup
c.1200dup (p.Ser401Ter)
n.2015dup
 dbSNP
Xg.53250879C>ACA10420010IQSEC2c.1856G>T (p.Gly619Val)
c.1697G>T (p.Gly566Val)
c.1667G>T (p.Gly556Val)
c.1082G>T (p.Gly361Val)
c.1793G>T (p.Gly598Val)
c.1019G>T (p.Gly340Val)
c.986G>T (p.Gly329Val)
n.2020G>T
c.1199G>T (p.Gly400Val)
n.2014G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250879C=CA2429775669IQSEC2c.1856G= (p.Gly619=)
c.1697G= (p.Gly566=)
c.1667G= (p.Gly556=)
c.1082G= (p.Gly361=)
c.1793G= (p.Gly598=)
c.1019G= (p.Gly340=)
c.986G= (p.Gly329=)
n.2020G=
c.1199G= (p.Gly400=)
n.2014G=
Xg.53250879C>GCA413164494IQSEC2c.1856G>C (p.Gly619Ala)
c.1697G>C (p.Gly566Ala)
c.1667G>C (p.Gly556Ala)
c.1082G>C (p.Gly361Ala)
c.1793G>C (p.Gly598Ala)
c.1019G>C (p.Gly340Ala)
c.986G>C (p.Gly329Ala)
n.2020G>C
c.1199G>C (p.Gly400Ala)
n.2014G>C
Xg.53250879C>TCA413164498IQSEC2c.1856G>A (p.Gly619Asp)
c.1697G>A (p.Gly566Asp)
c.1667G>A (p.Gly556Asp)
c.1082G>A (p.Gly361Asp)
c.1793G>A (p.Gly598Asp)
c.1019G>A (p.Gly340Asp)
c.986G>A (p.Gly329Asp)
n.2020G>A
c.1199G>A (p.Gly400Asp)
n.2014G>A
Xg.53250880C>ACA413164505IQSEC2c.1855G>T (p.Gly619Cys)
c.1696G>T (p.Gly566Cys)
c.1666G>T (p.Gly556Cys)
c.1081G>T (p.Gly361Cys)
c.1792G>T (p.Gly598Cys)
c.1018G>T (p.Gly340Cys)
c.985G>T (p.Gly329Cys)
n.2019G>T
c.1198G>T (p.Gly400Cys)
n.2013G>T
Xg.53250880C=CA2429775670IQSEC2c.1855G= (p.Gly619=)
c.1696G= (p.Gly566=)
c.1666G= (p.Gly556=)
c.1081G= (p.Gly361=)
c.1792G= (p.Gly598=)
c.1018G= (p.Gly340=)
c.985G= (p.Gly329=)
n.2019G=
c.1198G= (p.Gly400=)
n.2013G=
Xg.53250880C>GCA413164510IQSEC2c.1855G>C (p.Gly619Arg)
c.1696G>C (p.Gly566Arg)
c.1666G>C (p.Gly556Arg)
c.1081G>C (p.Gly361Arg)
c.1792G>C (p.Gly598Arg)
c.1018G>C (p.Gly340Arg)
c.985G>C (p.Gly329Arg)
n.2019G>C
c.1198G>C (p.Gly400Arg)
n.2013G>C
Xg.53250880C>TCA10420011IQSEC2c.1855G>A (p.Gly619Ser)
c.1696G>A (p.Gly566Ser)
c.1666G>A (p.Gly556Ser)
c.1081G>A (p.Gly361Ser)
c.1792G>A (p.Gly598Ser)
c.1018G>A (p.Gly340Ser)
c.985G>A (p.Gly329Ser)
n.2019G>A
c.1198G>A (p.Gly400Ser)
n.2013G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250881G>ACA10603988IQSEC2c.1854C>T (p.Asp618=)
c.1695C>T (p.Asp565=)
c.1665C>T (p.Asp555=)
c.1080C>T (p.Asp360=)
c.1791C>T (p.Asp597=)
c.1017C>T (p.Asp339=)
c.984C>T (p.Asp328=)
n.2018C>T
c.1197C>T (p.Asp399=)
n.2012C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.53250881G>CCA413164521IQSEC2c.1854C>G (p.Asp618Glu)
c.1695C>G (p.Asp565Glu)
c.1665C>G (p.Asp555Glu)
c.1080C>G (p.Asp360Glu)
c.1791C>G (p.Asp597Glu)
c.1017C>G (p.Asp339Glu)
c.984C>G (p.Asp328Glu)
n.2018C>G
c.1197C>G (p.Asp399Glu)
n.2012C>G
Xg.53250881G=CA2429775671IQSEC2c.1854C= (p.Asp618=)
c.1695C= (p.Asp565=)
c.1665C= (p.Asp555=)
c.1080C= (p.Asp360=)
c.1791C= (p.Asp597=)
c.1017C= (p.Asp339=)
c.984C= (p.Asp328=)
n.2018C=
c.1197C= (p.Asp399=)
n.2012C=
Xg.53250881G>TCA413164524IQSEC2c.1854C>A (p.Asp618Glu)
c.1695C>A (p.Asp565Glu)
c.1665C>A (p.Asp555Glu)
c.1080C>A (p.Asp360Glu)
c.1791C>A (p.Asp597Glu)
c.1017C>A (p.Asp339Glu)
c.984C>A (p.Asp328Glu)
n.2018C>A
c.1197C>A (p.Asp399Glu)
n.2012C>A
Xg.53250882T>ACA10420012IQSEC2c.1853A>T (p.Asp618Val)
c.1694A>T (p.Asp565Val)
c.1664A>T (p.Asp555Val)
c.1079A>T (p.Asp360Val)
c.1790A>T (p.Asp597Val)
c.1016A>T (p.Asp339Val)
c.983A>T (p.Asp328Val)
n.2017A>T
c.1196A>T (p.Asp399Val)
n.2011A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250882T>CCA413164529IQSEC2c.1853A>G (p.Asp618Gly)
c.1694A>G (p.Asp565Gly)
c.1664A>G (p.Asp555Gly)
c.1079A>G (p.Asp360Gly)
c.1790A>G (p.Asp597Gly)
c.1016A>G (p.Asp339Gly)
c.983A>G (p.Asp328Gly)
n.2017A>G
c.1196A>G (p.Asp399Gly)
n.2011A>G
Xg.53250882T>GCA413164532IQSEC2c.1853A>C (p.Asp618Ala)
c.1694A>C (p.Asp565Ala)
c.1664A>C (p.Asp555Ala)
c.1079A>C (p.Asp360Ala)
c.1790A>C (p.Asp597Ala)
c.1016A>C (p.Asp339Ala)
c.983A>C (p.Asp328Ala)
n.2017A>C
c.1196A>C (p.Asp399Ala)
n.2011A>C
Xg.53250882T=CA2429775672IQSEC2c.1853A= (p.Asp618=)
c.1694A= (p.Asp565=)
c.1664A= (p.Asp555=)
c.1079A= (p.Asp360=)
c.1790A= (p.Asp597=)
c.1016A= (p.Asp339=)
c.983A= (p.Asp328=)
n.2017A=
c.1196A= (p.Asp399=)
n.2011A=
Xg.53250883C>ACA413164545IQSEC2c.1852G>T (p.Asp618Tyr)
c.1693G>T (p.Asp565Tyr)
c.1663G>T (p.Asp555Tyr)
c.1078G>T (p.Asp360Tyr)
c.1789G>T (p.Asp597Tyr)
c.1015G>T (p.Asp339Tyr)
c.982G>T (p.Asp328Tyr)
n.2016G>T
c.1195G>T (p.Asp399Tyr)
n.2010G>T
Xg.53250883C>GCA413164541IQSEC2c.1852G>C (p.Asp618His)
c.1693G>C (p.Asp565His)
c.1663G>C (p.Asp555His)
c.1078G>C (p.Asp360His)
c.1789G>C (p.Asp597His)
c.1015G>C (p.Asp339His)
c.982G>C (p.Asp328His)
n.2016G>C
c.1195G>C (p.Asp399His)
n.2010G>C
Xg.53250883C>TCA413164538IQSEC2c.1852G>A (p.Asp618Asn)
c.1693G>A (p.Asp565Asn)
c.1663G>A (p.Asp555Asn)
c.1078G>A (p.Asp360Asn)
c.1789G>A (p.Asp597Asn)
c.1015G>A (p.Asp339Asn)
c.982G>A (p.Asp328Asn)
n.2016G>A
c.1195G>A (p.Asp399Asn)
n.2010G>A
Xg.53250884T>ACA413164549IQSEC2c.1851A>T (p.Glu617Asp)
c.1692A>T (p.Glu564Asp)
c.1662A>T (p.Glu554Asp)
c.1077A>T (p.Glu359Asp)
c.1788A>T (p.Glu596Asp)
c.1014A>T (p.Glu338Asp)
c.981A>T (p.Glu327Asp)
n.2015A>T
c.1194A>T (p.Glu398Asp)
n.2009A>T
 COSMIC COSMIC
Xg.53250884T>CCA516674126IQSEC2c.1851A>G (p.Glu617=)
c.1692A>G (p.Glu564=)
c.1662A>G (p.Glu554=)
c.1077A>G (p.Glu359=)
c.1788A>G (p.Glu596=)
c.1014A>G (p.Glu338=)
c.981A>G (p.Glu327=)
n.2015A>G
c.1194A>G (p.Glu398=)
n.2009A>G
Xg.53250884T>GCA413164552IQSEC2c.1851A>C (p.Glu617Asp)
c.1692A>C (p.Glu564Asp)
c.1662A>C (p.Glu554Asp)
c.1077A>C (p.Glu359Asp)
c.1788A>C (p.Glu596Asp)
c.1014A>C (p.Glu338Asp)
c.981A>C (p.Glu327Asp)
n.2015A>C
c.1194A>C (p.Glu398Asp)
n.2009A>C
Xg.53250885T>ACA413164556IQSEC2c.1850A>T (p.Glu617Val)
c.1691A>T (p.Glu564Val)
c.1661A>T (p.Glu554Val)
c.1076A>T (p.Glu359Val)
c.1787A>T (p.Glu596Val)
c.1013A>T (p.Glu338Val)
c.980A>T (p.Glu327Val)
n.2014A>T
c.1193A>T (p.Glu398Val)
n.2008A>T
Xg.53250885T>CCA413164560IQSEC2c.1850A>G (p.Glu617Gly)
c.1691A>G (p.Glu564Gly)
c.1661A>G (p.Glu554Gly)
c.1076A>G (p.Glu359Gly)
c.1787A>G (p.Glu596Gly)
c.1013A>G (p.Glu338Gly)
c.980A>G (p.Glu327Gly)
n.2014A>G
c.1193A>G (p.Glu398Gly)
n.2008A>G
Xg.53250885T>GCA413164562IQSEC2c.1850A>C (p.Glu617Ala)
c.1691A>C (p.Glu564Ala)
c.1661A>C (p.Glu554Ala)
c.1076A>C (p.Glu359Ala)
c.1787A>C (p.Glu596Ala)
c.1013A>C (p.Glu338Ala)
c.980A>C (p.Glu327Ala)
n.2014A>C
c.1193A>C (p.Glu398Ala)
n.2008A>C
 ClinVar dbSNP
Xg.53250886C>ACA413164566IQSEC2c.1849G>T (p.Glu617Ter)
c.1690G>T (p.Glu564Ter)
c.1660G>T (p.Glu554Ter)
c.1075G>T (p.Glu359Ter)
c.1786G>T (p.Glu596Ter)
c.1012G>T (p.Glu338Ter)
c.979G>T (p.Glu327Ter)
n.2013G>T
c.1192G>T (p.Glu398Ter)
n.2007G>T
Xg.53250886C>GCA413164568IQSEC2c.1849G>C (p.Glu617Gln)
c.1690G>C (p.Glu564Gln)
c.1660G>C (p.Glu554Gln)
c.1075G>C (p.Glu359Gln)
c.1786G>C (p.Glu596Gln)
c.1012G>C (p.Glu338Gln)
c.979G>C (p.Glu327Gln)
n.2013G>C
c.1192G>C (p.Glu398Gln)
n.2007G>C
Xg.53250886C>TCA413164569IQSEC2c.1849G>A (p.Glu617Lys)
c.1690G>A (p.Glu564Lys)
c.1660G>A (p.Glu554Lys)
c.1075G>A (p.Glu359Lys)
c.1786G>A (p.Glu596Lys)
c.1012G>A (p.Glu338Lys)
c.979G>A (p.Glu327Lys)
n.2013G>A
c.1192G>A (p.Glu398Lys)
n.2007G>A
Xg.53250887C>ACA516674130IQSEC2c.1848G>T (p.Arg616=)
c.1689G>T (p.Arg563=)
c.1659G>T (p.Arg553=)
c.1074G>T (p.Arg358=)
c.1785G>T (p.Arg595=)
c.1011G>T (p.Arg337=)
c.978G>T (p.Arg326=)
n.2012G>T
c.1191G>T (p.Arg397=)
n.2006G>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53250887C=CA2429775673IQSEC2c.1848G= (p.Arg616=)
c.1689G= (p.Arg563=)
c.1659G= (p.Arg553=)
c.1074G= (p.Arg358=)
c.1785G= (p.Arg595=)
c.1011G= (p.Arg337=)
c.978G= (p.Arg326=)
n.2012G=
c.1191G= (p.Arg397=)
n.2006G=
Xg.53250887C>GCA516674132IQSEC2c.1848G>C (p.Arg616=)
c.1689G>C (p.Arg563=)
c.1659G>C (p.Arg553=)
c.1074G>C (p.Arg358=)
c.1785G>C (p.Arg595=)
c.1011G>C (p.Arg337=)
c.978G>C (p.Arg326=)
n.2012G>C
c.1191G>C (p.Arg397=)
n.2006G>C
Xg.53250887C>TCA516674134IQSEC2c.1848G>A (p.Arg616=)
c.1689G>A (p.Arg563=)
c.1659G>A (p.Arg553=)
c.1074G>A (p.Arg358=)
c.1785G>A (p.Arg595=)
c.1011G>A (p.Arg337=)
c.978G>A (p.Arg326=)
n.2012G>A
c.1191G>A (p.Arg397=)
n.2006G>A
Xg.53250888C>ACA413164572IQSEC2c.1847G>T (p.Arg616Leu)
c.1688G>T (p.Arg563Leu)
c.1658G>T (p.Arg553Leu)
c.1073G>T (p.Arg358Leu)
c.1784G>T (p.Arg595Leu)
c.1010G>T (p.Arg337Leu)
c.977G>T (p.Arg326Leu)
n.2011G>T
c.1190G>T (p.Arg397Leu)
n.2005G>T
Xg.53250888C=CA2429775674IQSEC2c.1847G= (p.Arg616=)
c.1688G= (p.Arg563=)
c.1658G= (p.Arg553=)
c.1073G= (p.Arg358=)
c.1784G= (p.Arg595=)
c.1010G= (p.Arg337=)
c.977G= (p.Arg326=)
n.2011G=
c.1190G= (p.Arg397=)
n.2005G=
Xg.53250888C>GCA413164574IQSEC2c.1847G>C (p.Arg616Pro)
c.1688G>C (p.Arg563Pro)
c.1658G>C (p.Arg553Pro)
c.1073G>C (p.Arg358Pro)
c.1784G>C (p.Arg595Pro)
c.1010G>C (p.Arg337Pro)
c.977G>C (p.Arg326Pro)
n.2011G>C
c.1190G>C (p.Arg397Pro)
n.2005G>C
Xg.53250888C>TCA413164578IQSEC2c.1847G>A (p.Arg616Gln)
c.1688G>A (p.Arg563Gln)
c.1658G>A (p.Arg553Gln)
c.1073G>A (p.Arg358Gln)
c.1784G>A (p.Arg595Gln)
c.1010G>A (p.Arg337Gln)
c.977G>A (p.Arg326Gln)
n.2011G>A
c.1190G>A (p.Arg397Gln)
n.2005G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53250889G>ACA413164582IQSEC2c.1846C>T (p.Arg616Trp)
c.1687C>T (p.Arg563Trp)
c.1657C>T (p.Arg553Trp)
c.1072C>T (p.Arg358Trp)
c.1783C>T (p.Arg595Trp)
c.1009C>T (p.Arg337Trp)
c.976C>T (p.Arg326Trp)
n.2010C>T
c.1189C>T (p.Arg397Trp)
n.2004C>T
 gnomAD v4
Xg.53250889G>CCA413164583IQSEC2c.1846C>G (p.Arg616Gly)
c.1687C>G (p.Arg563Gly)
c.1657C>G (p.Arg553Gly)
c.1072C>G (p.Arg358Gly)
c.1783C>G (p.Arg595Gly)
c.1009C>G (p.Arg337Gly)
c.976C>G (p.Arg326Gly)
n.2010C>G
c.1189C>G (p.Arg397Gly)
n.2004C>G
 dbSNP gnomAD v2
Xg.53250889G=CA2429775675IQSEC2c.1846C= (p.Arg616=)
c.1687C= (p.Arg563=)
c.1657C= (p.Arg553=)
c.1072C= (p.Arg358=)
c.1783C= (p.Arg595=)
c.1009C= (p.Arg337=)
c.976C= (p.Arg326=)
n.2010C=
c.1189C= (p.Arg397=)
n.2004C=
Xg.53250889G>TCA516674135IQSEC2c.1846C>A (p.Arg616=)
c.1687C>A (p.Arg563=)
c.1657C>A (p.Arg553=)
c.1072C>A (p.Arg358=)
c.1783C>A (p.Arg595=)
c.1009C>A (p.Arg337=)
c.976C>A (p.Arg326=)
n.2010C>A
c.1189C>A (p.Arg397=)
n.2004C>A
Xg.53250890G>ACA516674137IQSEC2c.1845C>T (p.Thr615=)
c.1686C>T (p.Thr562=)
c.1656C>T (p.Thr552=)
c.1071C>T (p.Thr357=)
c.1782C>T (p.Thr594=)
c.1008C>T (p.Thr336=)
c.975C>T (p.Thr325=)
n.2009C>T
c.1188C>T (p.Thr396=)
n.2003C>T
Xg.53250890G>CCA516674138IQSEC2c.1845C>G (p.Thr615=)
c.1686C>G (p.Thr562=)
c.1656C>G (p.Thr552=)
c.1071C>G (p.Thr357=)
c.1782C>G (p.Thr594=)
c.1008C>G (p.Thr336=)
c.975C>G (p.Thr325=)
n.2009C>G
c.1188C>G (p.Thr396=)
n.2003C>G
Xg.53250890G>TCA516674139IQSEC2c.1845C>A (p.Thr615=)
c.1686C>A (p.Thr562=)
c.1656C>A (p.Thr552=)
c.1071C>A (p.Thr357=)
c.1782C>A (p.Thr594=)
c.1008C>A (p.Thr336=)
c.975C>A (p.Thr325=)
n.2009C>A
c.1188C>A (p.Thr396=)
n.2003C>A
Xg.53250891G>ACA413164588IQSEC2c.1844C>T (p.Thr615Ile)
c.1685C>T (p.Thr562Ile)
c.1655C>T (p.Thr552Ile)
c.1070C>T (p.Thr357Ile)
c.1781C>T (p.Thr594Ile)
c.1007C>T (p.Thr336Ile)
c.974C>T (p.Thr325Ile)
n.2008C>T
c.1187C>T (p.Thr396Ile)
n.2002C>T
 ClinVar dbSNP
Xg.53250891G>CCA413164591IQSEC2c.1844C>G (p.Thr615Ser)
c.1685C>G (p.Thr562Ser)
c.1655C>G (p.Thr552Ser)
c.1070C>G (p.Thr357Ser)
c.1781C>G (p.Thr594Ser)
c.1007C>G (p.Thr336Ser)
c.974C>G (p.Thr325Ser)
n.2008C>G
c.1187C>G (p.Thr396Ser)
n.2002C>G
Xg.53250891G=CA2429775676IQSEC2c.1844C= (p.Thr615=)
c.1685C= (p.Thr562=)
c.1655C= (p.Thr552=)
c.1070C= (p.Thr357=)
c.1781C= (p.Thr594=)
c.1007C= (p.Thr336=)
c.974C= (p.Thr325=)
n.2008C=
c.1187C= (p.Thr396=)
n.2002C=
Xg.53250891G>TCA413164586IQSEC2c.1844C>A (p.Thr615Asn)
c.1685C>A (p.Thr562Asn)
c.1655C>A (p.Thr552Asn)
c.1070C>A (p.Thr357Asn)
c.1781C>A (p.Thr594Asn)
c.1007C>A (p.Thr336Asn)
c.974C>A (p.Thr325Asn)
n.2008C>A
c.1187C>A (p.Thr396Asn)
n.2002C>A
Xg.53250892T>ACA413164594IQSEC2c.1843A>T (p.Thr615Ser)
c.1684A>T (p.Thr562Ser)
c.1654A>T (p.Thr552Ser)
c.1069A>T (p.Thr357Ser)
c.1780A>T (p.Thr594Ser)
c.1006A>T (p.Thr336Ser)
c.973A>T (p.Thr325Ser)
n.2007A>T
c.1186A>T (p.Thr396Ser)
n.2001A>T
Xg.53250892T>CCA413164596IQSEC2c.1843A>G (p.Thr615Ala)
c.1684A>G (p.Thr562Ala)
c.1654A>G (p.Thr552Ala)
c.1069A>G (p.Thr357Ala)
c.1780A>G (p.Thr594Ala)
c.1006A>G (p.Thr336Ala)
c.973A>G (p.Thr325Ala)
n.2007A>G
c.1186A>G (p.Thr396Ala)
n.2001A>G
 ClinVar dbSNP
Xg.53250892T>GCA413164599IQSEC2c.1843A>C (p.Thr615Pro)
c.1684A>C (p.Thr562Pro)
c.1654A>C (p.Thr552Pro)
c.1069A>C (p.Thr357Pro)
c.1780A>C (p.Thr594Pro)
c.1006A>C (p.Thr336Pro)
c.973A>C (p.Thr325Pro)
n.2007A>C
c.1186A>C (p.Thr396Pro)
n.2001A>C
 dbSNP gnomAD v2
Xg.53250892T=CA2429775677IQSEC2c.1843A= (p.Thr615=)
c.1684A= (p.Thr562=)
c.1654A= (p.Thr552=)
c.1069A= (p.Thr357=)
c.1780A= (p.Thr594=)
c.1006A= (p.Thr336=)
c.973A= (p.Thr325=)
n.2007A=
c.1186A= (p.Thr396=)
n.2001A=
Xg.53250893T>ACA516674140IQSEC2c.1842A>T (p.Gly614=)
c.1683A>T (p.Gly561=)
c.1653A>T (p.Gly551=)
c.1068A>T (p.Gly356=)
c.1779A>T (p.Gly593=)
c.1005A>T (p.Gly335=)
c.972A>T (p.Gly324=)
n.2006A>T
c.1185A>T (p.Gly395=)
n.2000A>T
Xg.53250893T>CCA516674142IQSEC2c.1842A>G (p.Gly614=)
c.1683A>G (p.Gly561=)
c.1653A>G (p.Gly551=)
c.1068A>G (p.Gly356=)
c.1779A>G (p.Gly593=)
c.1005A>G (p.Gly335=)
c.972A>G (p.Gly324=)
n.2006A>G
c.1185A>G (p.Gly395=)
n.2000A>G
Xg.53250893T>GCA516674141IQSEC2c.1842A>C (p.Gly614=)
c.1683A>C (p.Gly561=)
c.1653A>C (p.Gly551=)
c.1068A>C (p.Gly356=)
c.1779A>C (p.Gly593=)
c.1005A>C (p.Gly335=)
c.972A>C (p.Gly324=)
n.2006A>C
c.1185A>C (p.Gly395=)
n.2000A>C
Xg.53250894C>ACA413164606IQSEC2c.1841G>T (p.Gly614Val)
c.1682G>T (p.Gly561Val)
c.1652G>T (p.Gly551Val)
c.1067G>T (p.Gly356Val)
c.1778G>T (p.Gly593Val)
c.1004G>T (p.Gly335Val)
c.971G>T (p.Gly324Val)
n.2005G>T
c.1184G>T (p.Gly395Val)
n.1999G>T
Xg.53250894C>GCA413164607IQSEC2c.1841G>C (p.Gly614Ala)
c.1682G>C (p.Gly561Ala)
c.1652G>C (p.Gly551Ala)
c.1067G>C (p.Gly356Ala)
c.1778G>C (p.Gly593Ala)
c.1004G>C (p.Gly335Ala)
c.971G>C (p.Gly324Ala)
n.2005G>C
c.1184G>C (p.Gly395Ala)
n.1999G>C
Xg.53250894C>TCA413164609IQSEC2c.1841G>A (p.Gly614Glu)
c.1682G>A (p.Gly561Glu)
c.1652G>A (p.Gly551Glu)
c.1067G>A (p.Gly356Glu)
c.1778G>A (p.Gly593Glu)
c.1004G>A (p.Gly335Glu)
c.971G>A (p.Gly324Glu)
n.2005G>A
c.1184G>A (p.Gly395Glu)
n.1999G>A
Xg.53250895C>ACA413164611IQSEC2c.1840G>T (p.Gly614Ter)
c.1681G>T (p.Gly561Ter)
c.1651G>T (p.Gly551Ter)
c.1066G>T (p.Gly356Ter)
c.1777G>T (p.Gly593Ter)
c.1003G>T (p.Gly335Ter)
c.970G>T (p.Gly324Ter)
n.2004G>T
c.1183G>T (p.Gly395Ter)
n.1998G>T
Xg.53250895C>GCA413164614IQSEC2c.1840G>C (p.Gly614Arg)
c.1681G>C (p.Gly561Arg)
c.1651G>C (p.Gly551Arg)
c.1066G>C (p.Gly356Arg)
c.1777G>C (p.Gly593Arg)
c.1003G>C (p.Gly335Arg)
c.970G>C (p.Gly324Arg)
n.2004G>C
c.1183G>C (p.Gly395Arg)
n.1998G>C
Xg.53250895C>TCA413164616IQSEC2c.1840G>A (p.Gly614Arg)
c.1681G>A (p.Gly561Arg)
c.1651G>A (p.Gly551Arg)
c.1066G>A (p.Gly356Arg)
c.1777G>A (p.Gly593Arg)
c.1003G>A (p.Gly335Arg)
c.970G>A (p.Gly324Arg)
n.2004G>A
c.1183G>A (p.Gly395Arg)
n.1998G>A
Xg.53250896T>ACA516674143IQSEC2c.1839A>T (p.Ser613=)
c.1680A>T (p.Ser560=)
c.1650A>T (p.Ser550=)
c.1065A>T (p.Ser355=)
c.1776A>T (p.Ser592=)
c.1002A>T (p.Ser334=)
c.969A>T (p.Ser323=)
n.2003A>T
c.1182A>T (p.Ser394=)
n.1997A>T
Xg.53250896T>CCA10420013IQSEC2c.1839A>G (p.Ser613=)
c.1680A>G (p.Ser560=)
c.1650A>G (p.Ser550=)
c.1065A>G (p.Ser355=)
c.1776A>G (p.Ser592=)
c.1002A>G (p.Ser334=)
c.969A>G (p.Ser323=)
n.2003A>G
c.1182A>G (p.Ser394=)
n.1997A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250896T>GCA516674144IQSEC2c.1839A>C (p.Ser613=)
c.1680A>C (p.Ser560=)
c.1650A>C (p.Ser550=)
c.1065A>C (p.Ser355=)
c.1776A>C (p.Ser592=)
c.1002A>C (p.Ser334=)
c.969A>C (p.Ser323=)
n.2003A>C
c.1182A>C (p.Ser394=)
n.1997A>C
Xg.53250896T=CA2429775678IQSEC2c.1839A= (p.Ser613=)
c.1680A= (p.Ser560=)
c.1650A= (p.Ser550=)
c.1065A= (p.Ser355=)
c.1776A= (p.Ser592=)
c.1002A= (p.Ser334=)
c.969A= (p.Ser323=)
n.2003A=
c.1182A= (p.Ser394=)
n.1997A=
Xg.53250897G>ACA413164629IQSEC2c.1838C>T (p.Ser613Leu)
c.1679C>T (p.Ser560Leu)
c.1649C>T (p.Ser550Leu)
c.1064C>T (p.Ser355Leu)
c.1775C>T (p.Ser592Leu)
c.1001C>T (p.Ser334Leu)
c.968C>T (p.Ser323Leu)
n.2002C>T
c.1181C>T (p.Ser394Leu)
n.1996C>T
Xg.53250897G>CCA413164624IQSEC2c.1838C>G (p.Ser613Ter)
c.1679C>G (p.Ser560Ter)
c.1649C>G (p.Ser550Ter)
c.1064C>G (p.Ser355Ter)
c.1775C>G (p.Ser592Ter)
c.1001C>G (p.Ser334Ter)
c.968C>G (p.Ser323Ter)
n.2002C>G
c.1181C>G (p.Ser394Ter)
n.1996C>G
Xg.53250897G>TCA413164622IQSEC2c.1838C>A (p.Ser613Ter)
c.1679C>A (p.Ser560Ter)
c.1649C>A (p.Ser550Ter)
c.1064C>A (p.Ser355Ter)
c.1775C>A (p.Ser592Ter)
c.1001C>A (p.Ser334Ter)
c.968C>A (p.Ser323Ter)
n.2002C>A
c.1181C>A (p.Ser394Ter)
n.1996C>A
Xg.53250898A>CCA413164632IQSEC2c.1837T>G (p.Ser613Ala)
c.1678T>G (p.Ser560Ala)
c.1648T>G (p.Ser550Ala)
c.1063T>G (p.Ser355Ala)
c.1774T>G (p.Ser592Ala)
c.1000T>G (p.Ser334Ala)
c.967T>G (p.Ser323Ala)
n.2001T>G
c.1180T>G (p.Ser394Ala)
n.1995T>G
Xg.53250898A>GCA413164634IQSEC2c.1837T>C (p.Ser613Pro)
c.1678T>C (p.Ser560Pro)
c.1648T>C (p.Ser550Pro)
c.1063T>C (p.Ser355Pro)
c.1774T>C (p.Ser592Pro)
c.1000T>C (p.Ser334Pro)
c.967T>C (p.Ser323Pro)
n.2001T>C
c.1180T>C (p.Ser394Pro)
n.1995T>C
Xg.53250898A>TCA413164636IQSEC2c.1837T>A (p.Ser613Thr)
c.1678T>A (p.Ser560Thr)
c.1648T>A (p.Ser550Thr)
c.1063T>A (p.Ser355Thr)
c.1774T>A (p.Ser592Thr)
c.1000T>A (p.Ser334Thr)
c.967T>A (p.Ser323Thr)
n.2001T>A
c.1180T>A (p.Ser394Thr)
n.1995T>A
Xg.53250899T>ACA516674146IQSEC2c.1836A>T (p.Pro612=)
c.1677A>T (p.Pro559=)
c.1647A>T (p.Pro549=)
c.1062A>T (p.Pro354=)
c.1773A>T (p.Pro591=)
c.999A>T (p.Pro333=)
c.966A>T (p.Pro322=)
n.2000A>T
c.1179A>T (p.Pro393=)
n.1994A>T
Xg.53250899T>CCA516674147IQSEC2c.1836A>G (p.Pro612=)
c.1677A>G (p.Pro559=)
c.1647A>G (p.Pro549=)
c.1062A>G (p.Pro354=)
c.1773A>G (p.Pro591=)
c.999A>G (p.Pro333=)
c.966A>G (p.Pro322=)
n.2000A>G
c.1179A>G (p.Pro393=)
n.1994A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53250899T>GCA516674148IQSEC2c.1836A>C (p.Pro612=)
c.1677A>C (p.Pro559=)
c.1647A>C (p.Pro549=)
c.1062A>C (p.Pro354=)
c.1773A>C (p.Pro591=)
c.999A>C (p.Pro333=)
c.966A>C (p.Pro322=)
n.2000A>C
c.1179A>C (p.Pro393=)
n.1994A>C
Xg.53250899T=CA2429775679IQSEC2c.1836A= (p.Pro612=)
c.1677A= (p.Pro559=)
c.1647A= (p.Pro549=)
c.1062A= (p.Pro354=)
c.1773A= (p.Pro591=)
c.999A= (p.Pro333=)
c.966A= (p.Pro322=)
n.2000A=
c.1179A= (p.Pro393=)
n.1994A=
Xg.53250899_53250900delinsTGCA2429775680IQSEC2c.1835_1836delinsCA (p.Pro612=)
c.1676_1677delinsCA (p.Pro559=)
c.1646_1647delinsCA (p.Pro549=)
c.1061_1062delinsCA (p.Pro354=)
c.1772_1773delinsCA (p.Pro591=)
c.998_999delinsCA (p.Pro333=)
c.965_966delinsCA (p.Pro322=)
n.1999_2000delinsCA
c.1178_1179delinsCA (p.Pro393=)
n.1993_1994delinsCA
Xg.53250900G>ACA413164638IQSEC2c.1835C>T (p.Pro612Leu)
c.1676C>T (p.Pro559Leu)
c.1646C>T (p.Pro549Leu)
c.1061C>T (p.Pro354Leu)
c.1772C>T (p.Pro591Leu)
c.998C>T (p.Pro333Leu)
c.965C>T (p.Pro322Leu)
n.1999C>T
c.1178C>T (p.Pro393Leu)
n.1993C>T
 ClinVar dbSNP gnomAD v4
Xg.53250900G>CCA413164640IQSEC2c.1835C>G (p.Pro612Arg)
c.1676C>G (p.Pro559Arg)
c.1646C>G (p.Pro549Arg)
c.1061C>G (p.Pro354Arg)
c.1772C>G (p.Pro591Arg)
c.998C>G (p.Pro333Arg)
c.965C>G (p.Pro322Arg)
n.1999C>G
c.1178C>G (p.Pro393Arg)
n.1993C>G
Xg.53250900G=CA2429775681IQSEC2c.1835C= (p.Pro612=)
c.1676C= (p.Pro559=)
c.1646C= (p.Pro549=)
c.1061C= (p.Pro354=)
c.1772C= (p.Pro591=)
c.998C= (p.Pro333=)
c.965C= (p.Pro322=)
n.1999C=
c.1178C= (p.Pro393=)
n.1993C=
Xg.53250900G>TCA413164642IQSEC2c.1835C>A (p.Pro612Gln)
c.1676C>A (p.Pro559Gln)
c.1646C>A (p.Pro549Gln)
c.1061C>A (p.Pro354Gln)
c.1772C>A (p.Pro591Gln)
c.998C>A (p.Pro333Gln)
c.965C>A (p.Pro322Gln)
n.1999C>A
c.1178C>A (p.Pro393Gln)
n.1993C>A
Xg.53250901delCA658799751IQSEC2c.1835del (p.Pro612HisfsTer?)
c.1676del (p.Pro559HisfsTer?)
c.1646del (p.Pro549HisfsTer?)
c.1061del (p.Pro354HisfsTer?)
c.1772del (p.Pro591HisfsTer?)
c.998del (p.Pro333HisfsTer?)
c.965del (p.Pro322HisfsTer?)
n.1999del
c.1178del (p.Pro393HisfsTer?)
n.1993del
 ClinVar dbSNP
Xg.53250901G>ACA10420014IQSEC2c.1834C>T (p.Pro612Ser)
c.1675C>T (p.Pro559Ser)
c.1645C>T (p.Pro549Ser)
c.1060C>T (p.Pro354Ser)
c.1771C>T (p.Pro591Ser)
c.997C>T (p.Pro333Ser)
c.964C>T (p.Pro322Ser)
n.1998C>T
c.1177C>T (p.Pro393Ser)
n.1992C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250901G>CCA413164646IQSEC2c.1834C>G (p.Pro612Ala)
c.1675C>G (p.Pro559Ala)
c.1645C>G (p.Pro549Ala)
c.1060C>G (p.Pro354Ala)
c.1771C>G (p.Pro591Ala)
c.997C>G (p.Pro333Ala)
c.964C>G (p.Pro322Ala)
n.1998C>G
c.1177C>G (p.Pro393Ala)
n.1992C>G
Xg.53250901G=CA2429775682IQSEC2c.1834C= (p.Pro612=)
c.1675C= (p.Pro559=)
c.1645C= (p.Pro549=)
c.1060C= (p.Pro354=)
c.1771C= (p.Pro591=)
c.997C= (p.Pro333=)
c.964C= (p.Pro322=)
n.1998C=
c.1177C= (p.Pro393=)
n.1992C=
Xg.53250901G>TCA413164649IQSEC2c.1834C>A (p.Pro612Thr)
c.1675C>A (p.Pro559Thr)
c.1645C>A (p.Pro549Thr)
c.1060C>A (p.Pro354Thr)
c.1771C>A (p.Pro591Thr)
c.997C>A (p.Pro333Thr)
c.964C>A (p.Pro322Thr)
n.1998C>A
c.1177C>A (p.Pro393Thr)
n.1992C>A
Xg.53250902C>ACA516674154IQSEC2c.1833G>T (p.Val611=)
c.1674G>T (p.Val558=)
c.1644G>T (p.Val548=)
c.1059G>T (p.Val353=)
c.1770G>T (p.Val590=)
c.996G>T (p.Val332=)
c.963G>T (p.Val321=)
n.1997G>T
c.1176G>T (p.Val392=)
n.1991G>T
 gnomAD v4
Xg.53250902C>GCA516674153IQSEC2c.1833G>C (p.Val611=)
c.1674G>C (p.Val558=)
c.1644G>C (p.Val548=)
c.1059G>C (p.Val353=)
c.1770G>C (p.Val590=)
c.996G>C (p.Val332=)
c.963G>C (p.Val321=)
n.1997G>C
c.1176G>C (p.Val392=)
n.1991G>C
Xg.53250902C>TCA516674152IQSEC2c.1833G>A (p.Val611=)
c.1674G>A (p.Val558=)
c.1644G>A (p.Val548=)
c.1059G>A (p.Val353=)
c.1770G>A (p.Val590=)
c.996G>A (p.Val332=)
c.963G>A (p.Val321=)
n.1997G>A
c.1176G>A (p.Val392=)
n.1991G>A
Xg.53250903A=CA2429775683IQSEC2c.1832T= (p.Val611=)
c.1673T= (p.Val558=)
c.1643T= (p.Val548=)
c.1058T= (p.Val353=)
c.1769T= (p.Val590=)
c.995T= (p.Val332=)
c.962T= (p.Val321=)
n.1996T=
c.1175T= (p.Val392=)
n.1990T=
Xg.53250903A>CCA10420015IQSEC2c.1832T>G (p.Val611Gly)
c.1673T>G (p.Val558Gly)
c.1643T>G (p.Val548Gly)
c.1058T>G (p.Val353Gly)
c.1769T>G (p.Val590Gly)
c.995T>G (p.Val332Gly)
c.962T>G (p.Val321Gly)
n.1996T>G
c.1175T>G (p.Val392Gly)
n.1990T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250903A>GCA413164653IQSEC2c.1832T>C (p.Val611Ala)
c.1673T>C (p.Val558Ala)
c.1643T>C (p.Val548Ala)
c.1058T>C (p.Val353Ala)
c.1769T>C (p.Val590Ala)
c.995T>C (p.Val332Ala)
c.962T>C (p.Val321Ala)
n.1996T>C
c.1175T>C (p.Val392Ala)
n.1990T>C
Xg.53250903A>TCA413164656IQSEC2c.1832T>A (p.Val611Glu)
c.1673T>A (p.Val558Glu)
c.1643T>A (p.Val548Glu)
c.1058T>A (p.Val353Glu)
c.1769T>A (p.Val590Glu)
c.995T>A (p.Val332Glu)
c.962T>A (p.Val321Glu)
n.1996T>A
c.1175T>A (p.Val392Glu)
n.1990T>A
Xg.53250904C>ACA413164658IQSEC2c.1831G>T (p.Val611Leu)
c.1672G>T (p.Val558Leu)
c.1642G>T (p.Val548Leu)
c.1057G>T (p.Val353Leu)
c.1768G>T (p.Val590Leu)
c.994G>T (p.Val332Leu)
c.961G>T (p.Val321Leu)
n.1995G>T
c.1174G>T (p.Val392Leu)
n.1989G>T
Xg.53250904C=CA2429775684IQSEC2c.1831G= (p.Val611=)
c.1672G= (p.Val558=)
c.1642G= (p.Val548=)
c.1057G= (p.Val353=)
c.1768G= (p.Val590=)
c.994G= (p.Val332=)
c.961G= (p.Val321=)
n.1995G=
c.1174G= (p.Val392=)
n.1989G=
Xg.53250904C>GCA413164661IQSEC2c.1831G>C (p.Val611Leu)
c.1672G>C (p.Val558Leu)
c.1642G>C (p.Val548Leu)
c.1057G>C (p.Val353Leu)
c.1768G>C (p.Val590Leu)
c.994G>C (p.Val332Leu)
c.961G>C (p.Val321Leu)
n.1995G>C
c.1174G>C (p.Val392Leu)
n.1989G>C
 ClinVar dbSNP gnomAD v4
Xg.53250904C>TCA413164657IQSEC2c.1831G>A (p.Val611Met)
c.1672G>A (p.Val558Met)
c.1642G>A (p.Val548Met)
c.1057G>A (p.Val353Met)
c.1768G>A (p.Val590Met)
c.994G>A (p.Val332Met)
c.961G>A (p.Val321Met)
n.1995G>A
c.1174G>A (p.Val392Met)
n.1989G>A
 dbSNP
Xg.53250905T>ACA516674157IQSEC2c.1830A>T (p.Pro610=)
c.1671A>T (p.Pro557=)
c.1641A>T (p.Pro547=)
c.1056A>T (p.Pro352=)
c.1767A>T (p.Pro589=)
c.993A>T (p.Pro331=)
c.960A>T (p.Pro320=)
n.1994A>T
c.1173A>T (p.Pro391=)
n.1988A>T
Xg.53250905T>CCA516674158IQSEC2c.1830A>G (p.Pro610=)
c.1671A>G (p.Pro557=)
c.1641A>G (p.Pro547=)
c.1056A>G (p.Pro352=)
c.1767A>G (p.Pro589=)
c.993A>G (p.Pro331=)
c.960A>G (p.Pro320=)
n.1994A>G
c.1173A>G (p.Pro391=)
n.1988A>G
Xg.53250905T>GCA516674159IQSEC2c.1830A>C (p.Pro610=)
c.1671A>C (p.Pro557=)
c.1641A>C (p.Pro547=)
c.1056A>C (p.Pro352=)
c.1767A>C (p.Pro589=)
c.993A>C (p.Pro331=)
c.960A>C (p.Pro320=)
n.1994A>C
c.1173A>C (p.Pro391=)
n.1988A>C
Xg.53250906G>ACA413164668IQSEC2c.1829C>T (p.Pro610Leu)
c.1670C>T (p.Pro557Leu)
c.1640C>T (p.Pro547Leu)
c.1055C>T (p.Pro352Leu)
c.1766C>T (p.Pro589Leu)
c.992C>T (p.Pro331Leu)
c.959C>T (p.Pro320Leu)
n.1993C>T
c.1172C>T (p.Pro391Leu)
n.1987C>T
 gnomAD v4
Xg.53250906G>CCA413164663IQSEC2c.1829C>G (p.Pro610Arg)
c.1670C>G (p.Pro557Arg)
c.1640C>G (p.Pro547Arg)
c.1055C>G (p.Pro352Arg)
c.1766C>G (p.Pro589Arg)
c.992C>G (p.Pro331Arg)
c.959C>G (p.Pro320Arg)
n.1993C>G
c.1172C>G (p.Pro391Arg)
n.1987C>G
Xg.53250906G>TCA413164666IQSEC2c.1829C>A (p.Pro610Gln)
c.1670C>A (p.Pro557Gln)
c.1640C>A (p.Pro547Gln)
c.1055C>A (p.Pro352Gln)
c.1766C>A (p.Pro589Gln)
c.992C>A (p.Pro331Gln)
c.959C>A (p.Pro320Gln)
n.1993C>A
c.1172C>A (p.Pro391Gln)
n.1987C>A
Xg.53250907G>ACA413164671IQSEC2c.1828C>T (p.Pro610Ser)
c.1669C>T (p.Pro557Ser)
c.1639C>T (p.Pro547Ser)
c.1054C>T (p.Pro352Ser)
c.1765C>T (p.Pro589Ser)
c.991C>T (p.Pro331Ser)
c.958C>T (p.Pro320Ser)
n.1992C>T
c.1171C>T (p.Pro391Ser)
n.1986C>T
Xg.53250907G>CCA413164674IQSEC2c.1828C>G (p.Pro610Ala)
c.1669C>G (p.Pro557Ala)
c.1639C>G (p.Pro547Ala)
c.1054C>G (p.Pro352Ala)
c.1765C>G (p.Pro589Ala)
c.991C>G (p.Pro331Ala)
c.958C>G (p.Pro320Ala)
n.1992C>G
c.1171C>G (p.Pro391Ala)
n.1986C>G
 ClinVar dbSNP
Xg.53250907G=CA2429775685IQSEC2c.1828C= (p.Pro610=)
c.1669C= (p.Pro557=)
c.1639C= (p.Pro547=)
c.1054C= (p.Pro352=)
c.1765C= (p.Pro589=)
c.991C= (p.Pro331=)
c.958C= (p.Pro320=)
n.1992C=
c.1171C= (p.Pro391=)
n.1986C=
Xg.53250907G>TCA413164677IQSEC2c.1828C>A (p.Pro610Thr)
c.1669C>A (p.Pro557Thr)
c.1639C>A (p.Pro547Thr)
c.1054C>A (p.Pro352Thr)
c.1765C>A (p.Pro589Thr)
c.991C>A (p.Pro331Thr)
c.958C>A (p.Pro320Thr)
n.1992C>A
c.1171C>A (p.Pro391Thr)
n.1986C>A
Xg.53250908T>ACA516674163IQSEC2c.1827A>T (p.Pro609=)
c.1668A>T (p.Pro556=)
c.1638A>T (p.Pro546=)
c.1053A>T (p.Pro351=)
c.1764A>T (p.Pro588=)
c.990A>T (p.Pro330=)
c.957A>T (p.Pro319=)
n.1991A>T
c.1170A>T (p.Pro390=)
n.1985A>T
Xg.53250908T>CCA516674164IQSEC2c.1827A>G (p.Pro609=)
c.1668A>G (p.Pro556=)
c.1638A>G (p.Pro546=)
c.1053A>G (p.Pro351=)
c.1764A>G (p.Pro588=)
c.990A>G (p.Pro330=)
c.957A>G (p.Pro319=)
n.1991A>G
c.1170A>G (p.Pro390=)
n.1985A>G
 ClinVar gnomAD v4
Xg.53250908T>GCA516674165IQSEC2c.1827A>C (p.Pro609=)
c.1668A>C (p.Pro556=)
c.1638A>C (p.Pro546=)
c.1053A>C (p.Pro351=)
c.1764A>C (p.Pro588=)
c.990A>C (p.Pro330=)
c.957A>C (p.Pro319=)
n.1991A>C
c.1170A>C (p.Pro390=)
n.1985A>C
Xg.53250909G>ACA10420016IQSEC2c.1826C>T (p.Pro609Leu)
c.1667C>T (p.Pro556Leu)
c.1637C>T (p.Pro546Leu)
c.1052C>T (p.Pro351Leu)
c.1763C>T (p.Pro588Leu)
c.989C>T (p.Pro330Leu)
c.956C>T (p.Pro319Leu)
n.1990C>T
c.1169C>T (p.Pro390Leu)
n.1984C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250909G>CCA413164683IQSEC2c.1826C>G (p.Pro609Arg)
c.1667C>G (p.Pro556Arg)
c.1637C>G (p.Pro546Arg)
c.1052C>G (p.Pro351Arg)
c.1763C>G (p.Pro588Arg)
c.989C>G (p.Pro330Arg)
c.956C>G (p.Pro319Arg)
n.1990C>G
c.1169C>G (p.Pro390Arg)
n.1984C>G
Xg.53250909G=CA2429775686IQSEC2c.1826C= (p.Pro609=)
c.1667C= (p.Pro556=)
c.1637C= (p.Pro546=)
c.1052C= (p.Pro351=)
c.1763C= (p.Pro588=)
c.989C= (p.Pro330=)
c.956C= (p.Pro319=)
n.1990C=
c.1169C= (p.Pro390=)
n.1984C=
Xg.53250909G>TCA413164685IQSEC2c.1826C>A (p.Pro609Gln)
c.1667C>A (p.Pro556Gln)
c.1637C>A (p.Pro546Gln)
c.1052C>A (p.Pro351Gln)
c.1763C>A (p.Pro588Gln)
c.989C>A (p.Pro330Gln)
c.956C>A (p.Pro319Gln)
n.1990C>A
c.1169C>A (p.Pro390Gln)
n.1984C>A
Xg.53250913_53250925dupCA2580101191IQSEC2c.1814_1826dup (p.Pro610AlafsTer15)
c.1655_1667dup (p.Pro557AlafsTer15)
c.1625_1637dup (p.Pro547AlafsTer15)
c.1040_1052dup (p.Pro352AlafsTer15)
c.1751_1763dup (p.Pro589AlafsTer15)
c.977_989dup (p.Pro331AlafsTer15)
c.944_956dup (p.Pro320AlafsTer15)
n.1978_1990dup
c.1157_1169dup (p.Pro391AlafsTer15)
n.1972_1984dup
 ClinVar
Xg.53250910G>ACA413164689IQSEC2c.1825C>T (p.Pro609Ser)
c.1666C>T (p.Pro556Ser)
c.1636C>T (p.Pro546Ser)
c.1051C>T (p.Pro351Ser)
c.1762C>T (p.Pro588Ser)
c.988C>T (p.Pro330Ser)
c.955C>T (p.Pro319Ser)
n.1989C>T
c.1168C>T (p.Pro390Ser)
n.1983C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53250910G>CCA413164691IQSEC2c.1825C>G (p.Pro609Ala)
c.1666C>G (p.Pro556Ala)
c.1636C>G (p.Pro546Ala)
c.1051C>G (p.Pro351Ala)
c.1762C>G (p.Pro588Ala)
c.988C>G (p.Pro330Ala)
c.955C>G (p.Pro319Ala)
n.1989C>G
c.1168C>G (p.Pro390Ala)
n.1983C>G
Xg.53250910G=CA2429775687IQSEC2c.1825C= (p.Pro609=)
c.1666C= (p.Pro556=)
c.1636C= (p.Pro546=)
c.1051C= (p.Pro351=)
c.1762C= (p.Pro588=)
c.988C= (p.Pro330=)
c.955C= (p.Pro319=)
n.1989C=
c.1168C= (p.Pro390=)
n.1983C=
Xg.53250910G>TCA413164694IQSEC2c.1825C>A (p.Pro609Thr)
c.1666C>A (p.Pro556Thr)
c.1636C>A (p.Pro546Thr)
c.1051C>A (p.Pro351Thr)
c.1762C>A (p.Pro588Thr)
c.988C>A (p.Pro330Thr)
c.955C>A (p.Pro319Thr)
n.1989C>A
c.1168C>A (p.Pro390Thr)
n.1983C>A
Xg.53250911A=CA2429775688IQSEC2c.1824T= (p.Pro608=)
c.1665T= (p.Pro555=)
c.1635T= (p.Pro545=)
c.1050T= (p.Pro350=)
c.1761T= (p.Pro587=)
c.987T= (p.Pro329=)
c.954T= (p.Pro318=)
n.1988T=
c.1167T= (p.Pro389=)
n.1982T=
Xg.53250911A>CCA516674166IQSEC2c.1824T>G (p.Pro608=)
c.1665T>G (p.Pro555=)
c.1635T>G (p.Pro545=)
c.1050T>G (p.Pro350=)
c.1761T>G (p.Pro587=)
c.987T>G (p.Pro329=)
c.954T>G (p.Pro318=)
n.1988T>G
c.1167T>G (p.Pro389=)
n.1982T>G
Xg.53250911A>GCA329166239IQSEC2c.1824T>C (p.Pro608=)
c.1665T>C (p.Pro555=)
c.1635T>C (p.Pro545=)
c.1050T>C (p.Pro350=)
c.1761T>C (p.Pro587=)
c.987T>C (p.Pro329=)
c.954T>C (p.Pro318=)
n.1988T>C
c.1167T>C (p.Pro389=)
n.1982T>C
 dbSNP gnomAD v3 gnomAD v4
Xg.53250911A>TCA516674167IQSEC2c.1824T>A (p.Pro608=)
c.1665T>A (p.Pro555=)
c.1635T>A (p.Pro545=)
c.1050T>A (p.Pro350=)
c.1761T>A (p.Pro587=)
c.987T>A (p.Pro329=)
c.954T>A (p.Pro318=)
n.1988T>A
c.1167T>A (p.Pro389=)
n.1982T>A
Xg.53250912G>ACA413164703IQSEC2c.1823C>T (p.Pro608Leu)
c.1664C>T (p.Pro555Leu)
c.1634C>T (p.Pro545Leu)
c.1049C>T (p.Pro350Leu)
c.1760C>T (p.Pro587Leu)
c.986C>T (p.Pro329Leu)
c.953C>T (p.Pro318Leu)
n.1987C>T
c.1166C>T (p.Pro389Leu)
n.1981C>T
Xg.53250912G>CCA413164698IQSEC2c.1823C>G (p.Pro608Arg)
c.1664C>G (p.Pro555Arg)
c.1634C>G (p.Pro545Arg)
c.1049C>G (p.Pro350Arg)
c.1760C>G (p.Pro587Arg)
c.986C>G (p.Pro329Arg)
c.953C>G (p.Pro318Arg)
n.1987C>G
c.1166C>G (p.Pro389Arg)
n.1981C>G
 dbSNP gnomAD v2 gnomAD v4
Xg.53250912G=CA2429775689IQSEC2c.1823C= (p.Pro608=)
c.1664C= (p.Pro555=)
c.1634C= (p.Pro545=)
c.1049C= (p.Pro350=)
c.1760C= (p.Pro587=)
c.986C= (p.Pro329=)
c.953C= (p.Pro318=)
n.1987C=
c.1166C= (p.Pro389=)
n.1981C=
Xg.53250912G>TCA413164700IQSEC2c.1823C>A (p.Pro608His)
c.1664C>A (p.Pro555His)
c.1634C>A (p.Pro545His)
c.1049C>A (p.Pro350His)
c.1760C>A (p.Pro587His)
c.986C>A (p.Pro329His)
c.953C>A (p.Pro318His)
n.1987C>A
c.1166C>A (p.Pro389His)
n.1981C>A
Xg.53250913G>ACA413164706IQSEC2c.1822C>T (p.Pro608Ser)
c.1663C>T (p.Pro555Ser)
c.1633C>T (p.Pro545Ser)
c.1048C>T (p.Pro350Ser)
c.1759C>T (p.Pro587Ser)
c.985C>T (p.Pro329Ser)
c.952C>T (p.Pro318Ser)
n.1986C>T
c.1165C>T (p.Pro389Ser)
n.1980C>T
Xg.53250913G>CCA413164707IQSEC2c.1822C>G (p.Pro608Ala)
c.1663C>G (p.Pro555Ala)
c.1633C>G (p.Pro545Ala)
c.1048C>G (p.Pro350Ala)
c.1759C>G (p.Pro587Ala)
c.985C>G (p.Pro329Ala)
c.952C>G (p.Pro318Ala)
n.1986C>G
c.1165C>G (p.Pro389Ala)
n.1980C>G
Xg.53250913G>TCA413164708IQSEC2c.1822C>A (p.Pro608Thr)
c.1663C>A (p.Pro555Thr)
c.1633C>A (p.Pro545Thr)
c.1048C>A (p.Pro350Thr)
c.1759C>A (p.Pro587Thr)
c.985C>A (p.Pro329Thr)
c.952C>A (p.Pro318Thr)
n.1986C>A
c.1165C>A (p.Pro389Thr)
n.1980C>A
Xg.53250914A>CCA516674168IQSEC2c.1821T>G (p.Val607=)
c.1662T>G (p.Val554=)
c.1632T>G (p.Val544=)
c.1047T>G (p.Val349=)
c.1758T>G (p.Val586=)
c.984T>G (p.Val328=)
c.951T>G (p.Val317=)
n.1985T>G
c.1164T>G (p.Val388=)
n.1979T>G
Xg.53250914A>GCA516674169IQSEC2c.1821T>C (p.Val607=)
c.1662T>C (p.Val554=)
c.1632T>C (p.Val544=)
c.1047T>C (p.Val349=)
c.1758T>C (p.Val586=)
c.984T>C (p.Val328=)
c.951T>C (p.Val317=)
n.1985T>C
c.1164T>C (p.Val388=)
n.1979T>C
Xg.53250914A>TCA516674170IQSEC2c.1821T>A (p.Val607=)
c.1662T>A (p.Val554=)
c.1632T>A (p.Val544=)
c.1047T>A (p.Val349=)
c.1758T>A (p.Val586=)
c.984T>A (p.Val328=)
c.951T>A (p.Val317=)
n.1985T>A
c.1164T>A (p.Val388=)
n.1979T>A
Xg.53250915A>CCA413164710IQSEC2c.1820T>G (p.Val607Gly)
c.1661T>G (p.Val554Gly)
c.1631T>G (p.Val544Gly)
c.1046T>G (p.Val349Gly)
c.1757T>G (p.Val586Gly)
c.983T>G (p.Val328Gly)
c.950T>G (p.Val317Gly)
n.1984T>G
c.1163T>G (p.Val388Gly)
n.1978T>G
Xg.53250915A>GCA413164712IQSEC2c.1820T>C (p.Val607Ala)
c.1661T>C (p.Val554Ala)
c.1631T>C (p.Val544Ala)
c.1046T>C (p.Val349Ala)
c.1757T>C (p.Val586Ala)
c.983T>C (p.Val328Ala)
c.950T>C (p.Val317Ala)
n.1984T>C
c.1163T>C (p.Val388Ala)
n.1978T>C
Xg.53250915A>TCA413164715IQSEC2c.1820T>A (p.Val607Asp)
c.1661T>A (p.Val554Asp)
c.1631T>A (p.Val544Asp)
c.1046T>A (p.Val349Asp)
c.1757T>A (p.Val586Asp)
c.983T>A (p.Val328Asp)
c.950T>A (p.Val317Asp)
n.1984T>A
c.1163T>A (p.Val388Asp)
n.1978T>A
Xg.53250916C>ACA413164718IQSEC2c.1819G>T (p.Val607Phe)
c.1660G>T (p.Val554Phe)
c.1630G>T (p.Val544Phe)
c.1045G>T (p.Val349Phe)
c.1756G>T (p.Val586Phe)
c.982G>T (p.Val328Phe)
c.949G>T (p.Val317Phe)
n.1983G>T
c.1162G>T (p.Val388Phe)
n.1977G>T
Xg.53250916C=CA2429775690IQSEC2c.1819G= (p.Val607=)
c.1660G= (p.Val554=)
c.1630G= (p.Val544=)
c.1045G= (p.Val349=)
c.1756G= (p.Val586=)
c.982G= (p.Val328=)
c.949G= (p.Val317=)
n.1983G=
c.1162G= (p.Val388=)
n.1977G=
Xg.53250916C>GCA413164721IQSEC2c.1819G>C (p.Val607Leu)
c.1660G>C (p.Val554Leu)
c.1630G>C (p.Val544Leu)
c.1045G>C (p.Val349Leu)
c.1756G>C (p.Val586Leu)
c.982G>C (p.Val328Leu)
c.949G>C (p.Val317Leu)
n.1983G>C
c.1162G>C (p.Val388Leu)
n.1977G>C
 dbSNP gnomAD v3 gnomAD v4
Xg.53250916C>TCA413164723IQSEC2c.1819G>A (p.Val607Ile)
c.1660G>A (p.Val554Ile)
c.1630G>A (p.Val544Ile)
c.1045G>A (p.Val349Ile)
c.1756G>A (p.Val586Ile)
c.982G>A (p.Val328Ile)
c.949G>A (p.Val317Ile)
n.1983G>A
c.1162G>A (p.Val388Ile)
n.1977G>A
Xg.53250917T>ACA516674171IQSEC2c.1818A>T (p.Pro606=)
c.1659A>T (p.Pro553=)
c.1629A>T (p.Pro543=)
c.1044A>T (p.Pro348=)
c.1755A>T (p.Pro585=)
c.981A>T (p.Pro327=)
c.948A>T (p.Pro316=)
n.1982A>T
c.1161A>T (p.Pro387=)
n.1976A>T
Xg.53250917T>CCA516674172IQSEC2c.1818A>G (p.Pro606=)
c.1659A>G (p.Pro553=)
c.1629A>G (p.Pro543=)
c.1044A>G (p.Pro348=)
c.1755A>G (p.Pro585=)
c.981A>G (p.Pro327=)
c.948A>G (p.Pro316=)
n.1982A>G
c.1161A>G (p.Pro387=)
n.1976A>G
Xg.53250917T>GCA516674173IQSEC2c.1818A>C (p.Pro606=)
c.1659A>C (p.Pro553=)
c.1629A>C (p.Pro543=)
c.1044A>C (p.Pro348=)
c.1755A>C (p.Pro585=)
c.981A>C (p.Pro327=)
c.948A>C (p.Pro316=)
n.1982A>C
c.1161A>C (p.Pro387=)
n.1976A>C
Xg.53250918G>ACA10420018IQSEC2c.1817C>T (p.Pro606Leu)
c.1658C>T (p.Pro553Leu)
c.1628C>T (p.Pro543Leu)
c.1043C>T (p.Pro348Leu)
c.1754C>T (p.Pro585Leu)
c.980C>T (p.Pro327Leu)
c.947C>T (p.Pro316Leu)
n.1981C>T
c.1160C>T (p.Pro387Leu)
n.1975C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250918G>CCA413164728IQSEC2c.1817C>G (p.Pro606Arg)
c.1658C>G (p.Pro553Arg)
c.1628C>G (p.Pro543Arg)
c.1043C>G (p.Pro348Arg)
c.1754C>G (p.Pro585Arg)
c.980C>G (p.Pro327Arg)
c.947C>G (p.Pro316Arg)
n.1981C>G
c.1160C>G (p.Pro387Arg)
n.1975C>G
Xg.53250918G=CA2429775691IQSEC2c.1817C= (p.Pro606=)
c.1658C= (p.Pro553=)
c.1628C= (p.Pro543=)
c.1043C= (p.Pro348=)
c.1754C= (p.Pro585=)
c.980C= (p.Pro327=)
c.947C= (p.Pro316=)
n.1981C=
c.1160C= (p.Pro387=)
n.1975C=
Xg.53250918G>TCA10420017IQSEC2c.1817C>A (p.Pro606Gln)
c.1658C>A (p.Pro553Gln)
c.1628C>A (p.Pro543Gln)
c.1043C>A (p.Pro348Gln)
c.1754C>A (p.Pro585Gln)
c.980C>A (p.Pro327Gln)
c.947C>A (p.Pro316Gln)
n.1981C>A
c.1160C>A (p.Pro387Gln)
n.1975C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250919G>ACA10420019IQSEC2c.1816C>T (p.Pro606Ser)
c.1657C>T (p.Pro553Ser)
c.1627C>T (p.Pro543Ser)
c.1042C>T (p.Pro348Ser)
c.1753C>T (p.Pro585Ser)
c.979C>T (p.Pro327Ser)
c.946C>T (p.Pro316Ser)
n.1980C>T
c.1159C>T (p.Pro387Ser)
n.1974C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250919G>CCA413164739IQSEC2c.1816C>G (p.Pro606Ala)
c.1657C>G (p.Pro553Ala)
c.1627C>G (p.Pro543Ala)
c.1042C>G (p.Pro348Ala)
c.1753C>G (p.Pro585Ala)
c.979C>G (p.Pro327Ala)
c.946C>G (p.Pro316Ala)
n.1980C>G
c.1159C>G (p.Pro387Ala)
n.1974C>G
Xg.53250919G=CA2429775692IQSEC2c.1816C= (p.Pro606=)
c.1657C= (p.Pro553=)
c.1627C= (p.Pro543=)
c.1042C= (p.Pro348=)
c.1753C= (p.Pro585=)
c.979C= (p.Pro327=)
c.946C= (p.Pro316=)
n.1980C=
c.1159C= (p.Pro387=)
n.1974C=
Xg.53250919G>TCA413164733IQSEC2c.1816C>A (p.Pro606Thr)
c.1657C>A (p.Pro553Thr)
c.1627C>A (p.Pro543Thr)
c.1042C>A (p.Pro348Thr)
c.1753C>A (p.Pro585Thr)
c.979C>A (p.Pro327Thr)
c.946C>A (p.Pro316Thr)
n.1980C>A
c.1159C>A (p.Pro387Thr)
n.1974C>A
Xg.53250920C>ACA516674174IQSEC2c.1815G>T (p.Pro605=)
c.1656G>T (p.Pro552=)
c.1626G>T (p.Pro542=)
c.1041G>T (p.Pro347=)
c.1752G>T (p.Pro584=)
c.978G>T (p.Pro326=)
c.945G>T (p.Pro315=)
n.1979G>T
c.1158G>T (p.Pro386=)
n.1973G>T
 gnomAD v4
Xg.53250920C=CA2429775693IQSEC2c.1815G= (p.Pro605=)
c.1656G= (p.Pro552=)
c.1626G= (p.Pro542=)
c.1041G= (p.Pro347=)
c.1752G= (p.Pro584=)
c.978G= (p.Pro326=)
c.945G= (p.Pro315=)
n.1979G=
c.1158G= (p.Pro386=)
n.1973G=
Xg.53250920C>GCA516674175IQSEC2c.1815G>C (p.Pro605=)
c.1656G>C (p.Pro552=)
c.1626G>C (p.Pro542=)
c.1041G>C (p.Pro347=)
c.1752G>C (p.Pro584=)
c.978G>C (p.Pro326=)
c.945G>C (p.Pro315=)
n.1979G>C
c.1158G>C (p.Pro386=)
n.1973G>C
Xg.53250920C>TCA10420020IQSEC2c.1815G>A (p.Pro605=)
c.1656G>A (p.Pro552=)
c.1626G>A (p.Pro542=)
c.1041G>A (p.Pro347=)
c.1752G>A (p.Pro584=)
c.978G>A (p.Pro326=)
c.945G>A (p.Pro315=)
n.1979G>A
c.1158G>A (p.Pro386=)
n.1973G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250921G>ACA413164744IQSEC2c.1814C>T (p.Pro605Leu)
c.1655C>T (p.Pro552Leu)
c.1625C>T (p.Pro542Leu)
c.1040C>T (p.Pro347Leu)
c.1751C>T (p.Pro584Leu)
c.977C>T (p.Pro326Leu)
c.944C>T (p.Pro315Leu)
n.1978C>T
c.1157C>T (p.Pro386Leu)
n.1972C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53250921G>CCA413164746IQSEC2c.1814C>G (p.Pro605Arg)
c.1655C>G (p.Pro552Arg)
c.1625C>G (p.Pro542Arg)
c.1040C>G (p.Pro347Arg)
c.1751C>G (p.Pro584Arg)
c.977C>G (p.Pro326Arg)
c.944C>G (p.Pro315Arg)
n.1978C>G
c.1157C>G (p.Pro386Arg)
n.1972C>G
Xg.53250921G=CA2429775694IQSEC2c.1814C= (p.Pro605=)
c.1655C= (p.Pro552=)
c.1625C= (p.Pro542=)
c.1040C= (p.Pro347=)
c.1751C= (p.Pro584=)
c.977C= (p.Pro326=)
c.944C= (p.Pro315=)
n.1978C=
c.1157C= (p.Pro386=)
n.1972C=
Xg.53250921G>TCA413164749IQSEC2c.1814C>A (p.Pro605Gln)
c.1655C>A (p.Pro552Gln)
c.1625C>A (p.Pro542Gln)
c.1040C>A (p.Pro347Gln)
c.1751C>A (p.Pro584Gln)
c.977C>A (p.Pro326Gln)
c.944C>A (p.Pro315Gln)
n.1978C>A
c.1157C>A (p.Pro386Gln)
n.1972C>A
 ClinVar
Xg.53250922G>ACA413164753IQSEC2c.1813C>T (p.Pro605Ser)
c.1654C>T (p.Pro552Ser)
c.1624C>T (p.Pro542Ser)
c.1039C>T (p.Pro347Ser)
c.1750C>T (p.Pro584Ser)
c.976C>T (p.Pro326Ser)
c.943C>T (p.Pro315Ser)
n.1977C>T
c.1156C>T (p.Pro386Ser)
n.1971C>T
Xg.53250922G>CCA413164755IQSEC2c.1813C>G (p.Pro605Ala)
c.1654C>G (p.Pro552Ala)
c.1624C>G (p.Pro542Ala)
c.1039C>G (p.Pro347Ala)
c.1750C>G (p.Pro584Ala)
c.976C>G (p.Pro326Ala)
c.943C>G (p.Pro315Ala)
n.1977C>G
c.1156C>G (p.Pro386Ala)
n.1971C>G
Xg.53250922G=CA2429775695IQSEC2c.1813C= (p.Pro605=)
c.1654C= (p.Pro552=)
c.1624C= (p.Pro542=)
c.1039C= (p.Pro347=)
c.1750C= (p.Pro584=)
c.976C= (p.Pro326=)
c.943C= (p.Pro315=)
n.1977C=
c.1156C= (p.Pro386=)
n.1971C=
Xg.53250922G>TCA16621446IQSEC2c.1813C>A (p.Pro605Thr)
c.1654C>A (p.Pro552Thr)
c.1624C>A (p.Pro542Thr)
c.1039C>A (p.Pro347Thr)
c.1750C>A (p.Pro584Thr)
c.976C>A (p.Pro326Thr)
c.943C>A (p.Pro315Thr)
n.1977C>A
c.1156C>A (p.Pro386Thr)
n.1971C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53250923G>ACA10420021IQSEC2c.1812C>T (p.Leu604=)
c.1653C>T (p.Leu551=)
c.1623C>T (p.Leu541=)
c.1038C>T (p.Leu346=)
c.1749C>T (p.Leu583=)
c.975C>T (p.Leu325=)
c.942C>T (p.Leu314=)
n.1976C>T
c.1155C>T (p.Leu385=)
n.1970C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250923G>CCA516674177IQSEC2c.1812C>G (p.Leu604=)
c.1653C>G (p.Leu551=)
c.1623C>G (p.Leu541=)
c.1038C>G (p.Leu346=)
c.1749C>G (p.Leu583=)
c.975C>G (p.Leu325=)
c.942C>G (p.Leu314=)
n.1976C>G
c.1155C>G (p.Leu385=)
n.1970C>G
 dbSNP
Xg.53250923G=CA2429775696IQSEC2c.1812C= (p.Leu604=)
c.1653C= (p.Leu551=)
c.1623C= (p.Leu541=)
c.1038C= (p.Leu346=)
c.1749C= (p.Leu583=)
c.975C= (p.Leu325=)
c.942C= (p.Leu314=)
n.1976C=
c.1155C= (p.Leu385=)
n.1970C=
Xg.53250923G>TCA516674176IQSEC2c.1812C>A (p.Leu604=)
c.1653C>A (p.Leu551=)
c.1623C>A (p.Leu541=)
c.1038C>A (p.Leu346=)
c.1749C>A (p.Leu583=)
c.975C>A (p.Leu325=)
c.942C>A (p.Leu314=)
n.1976C>A
c.1155C>A (p.Leu385=)
n.1970C>A
Xg.53250924A=CA2429775697IQSEC2c.1811T= (p.Leu604=)
c.1652T= (p.Leu551=)
c.1622T= (p.Leu541=)
c.1037T= (p.Leu346=)
c.1748T= (p.Leu583=)
c.974T= (p.Leu325=)
c.941T= (p.Leu314=)
n.1975T=
c.1154T= (p.Leu385=)
n.1969T=
Xg.53250924A>CCA413164763IQSEC2c.1811T>G (p.Leu604Arg)
c.1652T>G (p.Leu551Arg)
c.1622T>G (p.Leu541Arg)
c.1037T>G (p.Leu346Arg)
c.1748T>G (p.Leu583Arg)
c.974T>G (p.Leu325Arg)
c.941T>G (p.Leu314Arg)
n.1975T>G
c.1154T>G (p.Leu385Arg)
n.1969T>G
Xg.53250924A>GCA10420022IQSEC2c.1811T>C (p.Leu604Pro)
c.1652T>C (p.Leu551Pro)
c.1622T>C (p.Leu541Pro)
c.1037T>C (p.Leu346Pro)
c.1748T>C (p.Leu583Pro)
c.974T>C (p.Leu325Pro)
c.941T>C (p.Leu314Pro)
n.1975T>C
c.1154T>C (p.Leu385Pro)
n.1969T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53250924A>TCA413164767IQSEC2c.1811T>A (p.Leu604His)
c.1652T>A (p.Leu551His)
c.1622T>A (p.Leu541His)
c.1037T>A (p.Leu346His)
c.1748T>A (p.Leu583His)
c.974T>A (p.Leu325His)
c.941T>A (p.Leu314His)
n.1975T>A
c.1154T>A (p.Leu385His)
n.1969T>A
Xg.53250925G>ACA413164769IQSEC2c.1810C>T (p.Leu604Phe)
c.1651C>T (p.Leu551Phe)
c.1621C>T (p.Leu541Phe)
c.1036C>T (p.Leu346Phe)
c.1747C>T (p.Leu583Phe)
c.973C>T (p.Leu325Phe)
c.940C>T (p.Leu314Phe)
n.1974C>T
c.1153C>T (p.Leu385Phe)
n.1968C>T
Xg.53250925G>CCA413164773IQSEC2c.1810C>G (p.Leu604Val)
c.1651C>G (p.Leu551Val)
c.1621C>G (p.Leu541Val)
c.1036C>G (p.Leu346Val)
c.1747C>G (p.Leu583Val)
c.973C>G (p.Leu325Val)
c.940C>G (p.Leu314Val)
n.1974C>G
c.1153C>G (p.Leu385Val)
n.1968C>G
 gnomAD v4
Xg.53250925G>TCA413164775IQSEC2c.1810C>A (p.Leu604Ile)
c.1651C>A (p.Leu551Ile)
c.1621C>A (p.Leu541Ile)
c.1036C>A (p.Leu346Ile)
c.1747C>A (p.Leu583Ile)
c.973C>A (p.Leu325Ile)
c.940C>A (p.Leu314Ile)
n.1974C>A
c.1153C>A (p.Leu385Ile)
n.1968C>A
Xg.53250926A=CA2429775698IQSEC2c.1809T= (p.Pro603=)
c.1650T= (p.Pro550=)
c.1620T= (p.Pro540=)
c.1035T= (p.Pro345=)
c.1746T= (p.Pro582=)
c.972T= (p.Pro324=)
c.939T= (p.Pro313=)
n.1973T=
c.1152T= (p.Pro384=)
n.1967T=
Xg.53250926A>CCA516674178IQSEC2c.1809T>G (p.Pro603=)
c.1650T>G (p.Pro550=)
c.1620T>G (p.Pro540=)
c.1035T>G (p.Pro345=)
c.1746T>G (p.Pro582=)
c.972T>G (p.Pro324=)
c.939T>G (p.Pro313=)
n.1973T>G
c.1152T>G (p.Pro384=)
n.1967T>G
Xg.53250926A>GCA516674179IQSEC2c.1809T>C (p.Pro603=)
c.1650T>C (p.Pro550=)
c.1620T>C (p.Pro540=)
c.1035T>C (p.Pro345=)
c.1746T>C (p.Pro582=)
c.972T>C (p.Pro324=)
c.939T>C (p.Pro313=)
n.1973T>C
c.1152T>C (p.Pro384=)
n.1967T>C
 dbSNP gnomAD v2
Xg.53250926A>TCA516674180IQSEC2c.1809T>A (p.Pro603=)
c.1650T>A (p.Pro550=)
c.1620T>A (p.Pro540=)
c.1035T>A (p.Pro345=)
c.1746T>A (p.Pro582=)
c.972T>A (p.Pro324=)
c.939T>A (p.Pro313=)
n.1973T>A
c.1152T>A (p.Pro384=)
n.1967T>A
Xg.53250927G>ACA413164781IQSEC2c.1808C>T (p.Pro603Leu)
c.1649C>T (p.Pro550Leu)
c.1619C>T (p.Pro540Leu)
c.1034C>T (p.Pro345Leu)
c.1745C>T (p.Pro582Leu)
c.971C>T (p.Pro324Leu)
c.938C>T (p.Pro313Leu)
n.1972C>T
c.1151C>T (p.Pro384Leu)
n.1966C>T
Xg.53250927G>CCA413164787IQSEC2c.1808C>G (p.Pro603Arg)
c.1649C>G (p.Pro550Arg)
c.1619C>G (p.Pro540Arg)
c.1034C>G (p.Pro345Arg)
c.1745C>G (p.Pro582Arg)
c.971C>G (p.Pro324Arg)
c.938C>G (p.Pro313Arg)
n.1972C>G
c.1151C>G (p.Pro384Arg)
n.1966C>G
Xg.53250927G>TCA413164784IQSEC2c.1808C>A (p.Pro603His)
c.1649C>A (p.Pro550His)
c.1619C>A (p.Pro540His)
c.1034C>A (p.Pro345His)
c.1745C>A (p.Pro582His)
c.971C>A (p.Pro324His)
c.938C>A (p.Pro313His)
n.1972C>A
c.1151C>A (p.Pro384His)
n.1966C>A
Xg.53250930dupCA658658988IQSEC2c.1808dup (p.Leu604SerfsTer17)
c.1649dup (p.Leu551SerfsTer17)
c.1619dup (p.Leu541SerfsTer17)
c.1034dup (p.Leu346SerfsTer17)
c.1745dup (p.Leu583SerfsTer17)
c.971dup (p.Leu325SerfsTer17)
c.938dup (p.Leu314SerfsTer17)
n.1972dup
c.1151dup (p.Leu385SerfsTer17)
n.1966dup
 ClinVar dbSNP
Xg.53250928G>ACA413164790IQSEC2c.1807C>T (p.Pro603Ser)
c.1648C>T (p.Pro550Ser)
c.1618C>T (p.Pro540Ser)
c.1033C>T (p.Pro345Ser)
c.1744C>T (p.Pro582Ser)
c.970C>T (p.Pro324Ser)
c.937C>T (p.Pro313Ser)
n.1971C>T
c.1150C>T (p.Pro384Ser)
n.1965C>T
 gnomAD v4
Xg.53250928G>CCA10420023IQSEC2c.1807C>G (p.Pro603Ala)
c.1648C>G (p.Pro550Ala)
c.1618C>G (p.Pro540Ala)
c.1033C>G (p.Pro345Ala)
c.1744C>G (p.Pro582Ala)
c.970C>G (p.Pro324Ala)
c.937C>G (p.Pro313Ala)
n.1971C>G
c.1150C>G (p.Pro384Ala)
n.1965C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53250928G=CA2429775699IQSEC2c.1807C= (p.Pro603=)
c.1648C= (p.Pro550=)
c.1618C= (p.Pro540=)
c.1033C= (p.Pro345=)
c.1744C= (p.Pro582=)
c.970C= (p.Pro324=)
c.937C= (p.Pro313=)
n.1971C=
c.1150C= (p.Pro384=)
n.1965C=
Xg.53250928G>TCA413164794IQSEC2c.1807C>A (p.Pro603Thr)
c.1648C>A (p.Pro550Thr)
c.1618C>A (p.Pro540Thr)
c.1033C>A (p.Pro345Thr)
c.1744C>A (p.Pro582Thr)
c.970C>A (p.Pro324Thr)
c.937C>A (p.Pro313Thr)
n.1971C>A
c.1150C>A (p.Pro384Thr)
n.1965C>A
Xg.53250929G>ACA516674181IQSEC2c.1806C>T (p.Ala602=)
c.1647C>T (p.Ala549=)
c.1617C>T (p.Ala539=)
c.1032C>T (p.Ala344=)
c.1743C>T (p.Ala581=)
c.969C>T (p.Ala323=)
c.936C>T (p.Ala312=)
n.1970C>T
c.1149C>T (p.Ala383=)
n.1964C>T
 gnomAD v4
Xg.53250929G>CCA516674182IQSEC2c.1806C>G (p.Ala602=)
c.1647C>G (p.Ala549=)
c.1617C>G (p.Ala539=)
c.1032C>G (p.Ala344=)
c.1743C>G (p.Ala581=)
c.969C>G (p.Ala323=)
c.936C>G (p.Ala312=)
n.1970C>G
c.1149C>G (p.Ala383=)
n.1964C>G
 gnomAD v4
Xg.53250929G>TCA516674183IQSEC2c.1806C>A (p.Ala602=)
c.1647C>A (p.Ala549=)
c.1617C>A (p.Ala539=)
c.1032C>A (p.Ala344=)
c.1743C>A (p.Ala581=)
c.969C>A (p.Ala323=)
c.936C>A (p.Ala312=)
n.1970C>A
c.1149C>A (p.Ala383=)
n.1964C>A
Xg.53250930G>ACA413164798IQSEC2c.1805C>T (p.Ala602Val)
c.1646C>T (p.Ala549Val)
c.1616C>T (p.Ala539Val)
c.1031C>T (p.Ala344Val)
c.1742C>T (p.Ala581Val)
c.968C>T (p.Ala323Val)
c.935C>T (p.Ala312Val)
n.1969C>T
c.1148C>T (p.Ala383Val)
n.1963C>T
Xg.53250930G>CCA413164802IQSEC2c.1805C>G (p.Ala602Gly)
c.1646C>G (p.Ala549Gly)
c.1616C>G (p.Ala539Gly)
c.1031C>G (p.Ala344Gly)
c.1742C>G (p.Ala581Gly)
c.968C>G (p.Ala323Gly)
c.935C>G (p.Ala312Gly)
n.1969C>G
c.1148C>G (p.Ala383Gly)
n.1963C>G
Xg.53250930G=CA2429775700IQSEC2c.1805C= (p.Ala602=)
c.1646C= (p.Ala549=)
c.1616C= (p.Ala539=)
c.1031C= (p.Ala344=)
c.1742C= (p.Ala581=)
c.968C= (p.Ala323=)
c.935C= (p.Ala312=)
n.1969C=
c.1148C= (p.Ala383=)
n.1963C=
Xg.53250930G>TCA413164804IQSEC2c.1805C>A (p.Ala602Asp)
c.1646C>A (p.Ala549Asp)
c.1616C>A (p.Ala539Asp)
c.1031C>A (p.Ala344Asp)
c.1742C>A (p.Ala581Asp)
c.968C>A (p.Ala323Asp)
c.935C>A (p.Ala312Asp)
n.1969C>A
c.1148C>A (p.Ala383Asp)
n.1963C>A
 dbSNP
Xg.53250931C>ACA413164812IQSEC2c.1804G>T (p.Ala602Ser)
c.1645G>T (p.Ala549Ser)
c.1615G>T (p.Ala539Ser)
c.1030G>T (p.Ala344Ser)
c.1741G>T (p.Ala581Ser)
c.967G>T (p.Ala323Ser)
c.934G>T (p.Ala312Ser)
n.1968G>T
c.1147G>T (p.Ala383Ser)
n.1962G>T
Xg.53250931C=CA2429775701IQSEC2c.1804G= (p.Ala602=)
c.1645G= (p.Ala549=)
c.1615G= (p.Ala539=)
c.1030G= (p.Ala344=)
c.1741G= (p.Ala581=)
c.967G= (p.Ala323=)
c.934G= (p.Ala312=)
n.1968G=
c.1147G= (p.Ala383=)
n.1962G=
Xg.53250931C>GCA413164816IQSEC2c.1804G>C (p.Ala602Pro)
c.1645G>C (p.Ala549Pro)
c.1615G>C (p.Ala539Pro)
c.1030G>C (p.Ala344Pro)
c.1741G>C (p.Ala581Pro)
c.967G>C (p.Ala323Pro)
c.934G>C (p.Ala312Pro)
n.1968G>C
c.1147G>C (p.Ala383Pro)
n.1962G>C
 dbSNP gnomAD v2
Xg.53250931C>TCA413164819IQSEC2c.1804G>A (p.Ala602Thr)
c.1645G>A (p.Ala549Thr)
c.1615G>A (p.Ala539Thr)
c.1030G>A (p.Ala344Thr)
c.1741G>A (p.Ala581Thr)
c.967G>A (p.Ala323Thr)
c.934G>A (p.Ala312Thr)
n.1968G>A
c.1147G>A (p.Ala383Thr)
n.1962G>A
Xg.53250932T>ACA516674184IQSEC2c.1803A>T (p.Pro601=)
c.1644A>T (p.Pro548=)
c.1614A>T (p.Pro538=)
c.1029A>T (p.Pro343=)
c.1740A>T (p.Pro580=)
c.966A>T (p.Pro322=)
c.933A>T (p.Pro311=)
n.1967A>T
c.1146A>T (p.Pro382=)
n.1961A>T
 gnomAD v4
Xg.53250932T>CCA516674185IQSEC2c.1803A>G (p.Pro601=)
c.1644A>G (p.Pro548=)
c.1614A>G (p.Pro538=)
c.1029A>G (p.Pro343=)
c.1740A>G (p.Pro580=)
c.966A>G (p.Pro322=)
c.933A>G (p.Pro311=)
n.1967A>G
c.1146A>G (p.Pro382=)
n.1961A>G
Xg.53250932T>GCA516674186IQSEC2c.1803A>C (p.Pro601=)
c.1644A>C (p.Pro548=)
c.1614A>C (p.Pro538=)
c.1029A>C (p.Pro343=)
c.1740A>C (p.Pro580=)
c.966A>C (p.Pro322=)
c.933A>C (p.Pro311=)
n.1967A>C
c.1146A>C (p.Pro382=)
n.1961A>C
Xg.53250932T=CA2429775702IQSEC2c.1803A= (p.Pro601=)
c.1644A= (p.Pro548=)
c.1614A= (p.Pro538=)
c.1029A= (p.Pro343=)
c.1740A= (p.Pro580=)
c.966A= (p.Pro322=)
c.933A= (p.Pro311=)
n.1967A=
c.1146A= (p.Pro382=)
n.1961A=

Number of alleles fetched