Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53250839C>A | CA413164091 | IQSEC2 | c.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 | |
X | g.53250839C>G | CA413164099 | IQSEC2 | c.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 | |
X | g.53250839C>T | CA516674056 | IQSEC2 | c.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 | |
X | g.53250840A>C | CA413164103 | IQSEC2 | c.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 | |
X | g.53250840A>G | CA413164116 | IQSEC2 | c.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 | |
X | g.53250840A>T | CA413164118 | IQSEC2 | c.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 | |
X | g.53250841A>C | CA413164120 | IQSEC2 | c.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 | |
X | g.53250841A>G | CA516674058 | IQSEC2 | c.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 | |
X | g.53250841A>T | CA413164119 | IQSEC2 | c.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 | |
X | g.53250842G>A | CA516674064 | IQSEC2 | c.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 | |
X | g.53250842G>C | CA413164123 | IQSEC2 | c.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 | |
X | g.53250842G>T | CA413164128 | IQSEC2 | c.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 | |
X | g.53250843C>A | CA413164135 | IQSEC2 | c.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 |
X | g.53250843C>G | CA413164138 | IQSEC2 | c.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 | |
X | g.53250843C>T | CA413164142 | IQSEC2 | c.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 | |
X | g.53250844A>C | CA413164147 | IQSEC2 | c.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 | |
X | g.53250844A>G | CA413164151 | IQSEC2 | c.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 | |
X | g.53250844A>T | CA413164154 | IQSEC2 | c.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 | |
X | g.53250845C>A | CA516674069 | IQSEC2 | c.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 | |
X | g.53250845C>G | CA516674070 | IQSEC2 | c.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 | |
X | g.53250845C>T | CA516674071 | IQSEC2 | c.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 |
X | g.53250846C>A | CA10420006 | IQSEC2 | c.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 |
X | g.53250846C= | CA2429775654 | IQSEC2 | c.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= | |
X | g.53250846C>G | CA413164162 | IQSEC2 | c.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 | |
X | g.53250846C>T | CA413164166 | IQSEC2 | c.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 |
X | g.53250847C>A | CA413164192 | IQSEC2 | c.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 |
X | g.53250847C= | CA2429775655 | IQSEC2 | c.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= | |
X | g.53250847C>G | CA413164195 | IQSEC2 | c.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 | |
X | g.53250847C>T | CA10420007 | IQSEC2 | c.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 |
X | g.53250848G>A | CA10420008 | IQSEC2 | c.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 |
X | g.53250848G>C | CA516674075 | IQSEC2 | c.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 | |
X | g.53250848G= | CA2429775656 | IQSEC2 | c.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= | |
X | g.53250848G>T | CA516674074 | IQSEC2 | c.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 |
X | g.53250849G>A | CA413164242 | IQSEC2 | c.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 |
X | g.53250849G>C | CA413164212 | IQSEC2 | c.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 | |
X | g.53250849G>T | CA413164239 | IQSEC2 | c.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 | |
X | g.53250850G>A | CA413164248 | IQSEC2 | c.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 |
X | g.53250850G>C | CA413164251 | IQSEC2 | c.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 |
X | g.53250850G>T | CA413164256 | IQSEC2 | c.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 | |
X | g.53250851A>C | CA516674077 | IQSEC2 | c.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 | |
X | g.53250851A>G | CA516674078 | IQSEC2 | c.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 |
X | g.53250851A>T | CA516674079 | IQSEC2 | c.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 | |
X | g.53250852C>A | CA413164264 | IQSEC2 | c.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 | |
X | g.53250852C>G | CA413164267 | IQSEC2 | c.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 | |
X | g.53250852C>T | CA413164271 | IQSEC2 | c.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 | |
X | g.53250853C>A | CA413164278 | IQSEC2 | c.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 | |
X | g.53250853C>G | CA413164282 | IQSEC2 | c.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 | |
X | g.53250853C>T | CA413164305 | IQSEC2 | c.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 | |
X | g.53250854C>A | CA413164310 | IQSEC2 | c.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 | |
X | g.53250854C>G | CA413164314 | IQSEC2 | c.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 | |
X | g.53250854C>T | CA516674081 | IQSEC2 | c.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 | |
X | g.53250855C>A | CA413164328 | IQSEC2 | c.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 | |
X | g.53250855C= | CA2429775657 | IQSEC2 | c.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= | |
X | g.53250855C>G | CA413164323 | IQSEC2 | c.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 | |
X | g.53250855C>T | CA413164319 | IQSEC2 | c.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 |
X | g.53250856T>A | CA413164337 | IQSEC2 | c.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 | |
X | g.53250856T>C | CA413164339 | IQSEC2 | c.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 | |
X | g.53250856T>G | CA516674085 | IQSEC2 | c.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 | |
X | g.53250857G>A | CA516674086 | IQSEC2 | c.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 | |
X | g.53250857G>C | CA516674087 | IQSEC2 | c.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 | |
X | g.53250857G>T | CA516674088 | IQSEC2 | c.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 | |
X | g.53250858C>A | CA413164343 | IQSEC2 | c.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 | |
X | g.53250858C= | CA2429775658 | IQSEC2 | c.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= | |
X | g.53250858C>G | CA413164345 | IQSEC2 | c.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 | |
X | g.53250858C>T | CA413164346 | IQSEC2 | c.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 |
X | g.53250859G>A | CA413164347 | IQSEC2 | c.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 |
X | g.53250859G>C | CA413164349 | IQSEC2 | c.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 | |
X | g.53250859G>T | CA413164351 | IQSEC2 | c.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 | |
X | g.53250860A>C | CA516674094 | IQSEC2 | c.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 | |
X | g.53250860A>G | CA516674092 | IQSEC2 | c.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 | |
X | g.53250860A>T | CA516674093 | IQSEC2 | c.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 | |
X | g.53250861G>A | CA413164354 | IQSEC2 | c.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 |
X | g.53250861G>C | CA413164357 | IQSEC2 | c.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 |
X | g.53250861G= | CA2429775659 | IQSEC2 | c.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= | |
X | g.53250861G>T | CA413164360 | IQSEC2 | c.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 | |
X | g.53250862T>A | CA413164365 | IQSEC2 | c.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 | |
X | g.53250862T>C | CA413164367 | IQSEC2 | c.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 | |
X | g.53250862T>G | CA413164370 | IQSEC2 | c.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 | |
X | g.53250863G>A | CA516674097 | IQSEC2 | c.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 | |
X | g.53250863G>C | CA516674098 | IQSEC2 | c.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 | |
X | g.53250863G>T | CA516674099 | IQSEC2 | c.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 | |
X | g.53250864C>A | CA413164381 | IQSEC2 | c.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 |
X | g.53250864C= | CA2429775660 | IQSEC2 | c.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= | |
X | g.53250864C>G | CA413164384 | IQSEC2 | c.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 | |
X | g.53250864C>T | CA413164374 | IQSEC2 | c.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 |
X | g.53250865C>A | CA413164388 | IQSEC2 | c.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 | |
X | g.53250865C= | CA2429775661 | IQSEC2 | c.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= | |
X | g.53250865C>G | CA413164391 | IQSEC2 | c.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 | |
X | g.53250865C>T | CA246022 | IQSEC2 | c.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 |
X | g.53250866T>A | CA413164398 | IQSEC2 | c.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 | |
X | g.53250866T>C | CA516674103 | IQSEC2 | c.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 | |
X | g.53250866T>G | CA413164401 | IQSEC2 | c.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 | |
X | g.53250867T>A | CA413164403 | IQSEC2 | c.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 | |
X | g.53250867T>C | CA413164406 | IQSEC2 | c.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 |
X | g.53250867T>G | CA413164410 | IQSEC2 | c.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 | |
X | g.53250867T= | CA2429775662 | IQSEC2 | c.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= | |
X | g.53250868C>A | CA413164414 | IQSEC2 | c.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 | |
X | g.53250868C>G | CA413164417 | IQSEC2 | c.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 | |
X | g.53250868C>T | CA413164419 | IQSEC2 | c.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 |
X | g.53250869C>A | CA413164423 | IQSEC2 | c.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 |
X | g.53250869C>G | CA413164425 | IQSEC2 | c.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 | |
X | g.53250869C>T | CA516674104 | IQSEC2 | c.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 | |
X | g.53250870T>A | CA413164435 | IQSEC2 | c.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 | |
X | g.53250870T>C | CA413164429 | IQSEC2 | c.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 | |
X | g.53250870T>G | CA413164432 | IQSEC2 | c.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 | |
X | g.53250871C>A | CA413164440 | IQSEC2 | c.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 | |
X | g.53250871C= | CA2429775663 | IQSEC2 | c.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= | |
X | g.53250871C>G | CA413164442 | IQSEC2 | c.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 | |
X | g.53250871C>T | CA413164446 | IQSEC2 | c.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 |
X | g.53250872A= | CA2429775664 | IQSEC2 | c.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= | |
X | g.53250872A>C | CA516674108 | IQSEC2 | c.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 | |
X | g.53250872A>G | CA516674109 | IQSEC2 | c.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 |
X | g.53250872A>T | CA516674110 | IQSEC2 | c.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 | |
X | g.53250873C>A | CA413164448 | IQSEC2 | c.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 |
X | g.53250873C= | CA2429775665 | IQSEC2 | c.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= | |
X | g.53250873C>G | CA413164450 | IQSEC2 | c.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 | |
X | g.53250873C>T | CA413164452 | IQSEC2 | c.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 |
X | g.53250874G>A | CA10420009 | IQSEC2 | c.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 |
X | g.53250874G>C | CA413164458 | IQSEC2 | c.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 | |
X | g.53250874G= | CA2429775666 | IQSEC2 | c.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= | |
X | g.53250874G>T | CA413164461 | IQSEC2 | c.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 | |
X | g.53250875G>A | CA516674114 | IQSEC2 | c.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 | |
X | g.53250875G>C | CA413164465 | IQSEC2 | c.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 | |
X | g.53250875G>T | CA413164467 | IQSEC2 | c.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 | |
X | g.53250876C>A | CA413164471 | IQSEC2 | c.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 | |
X | g.53250876C>G | CA413164477 | IQSEC2 | c.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 | |
X | g.53250876C>T | CA413164476 | IQSEC2 | c.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 | |
X | g.53250877T>A | CA413164480 | IQSEC2 | c.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 | |
X | g.53250877T>C | CA413164487 | IQSEC2 | c.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 | |
X | g.53250877T>G | CA413164483 | IQSEC2 | c.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 | |
X | g.53250877T= | CA2429775667 | IQSEC2 | c.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= | |
X | g.53250878A>C | CA516674118 | IQSEC2 | c.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 | |
X | g.53250878A>G | CA516674119 | IQSEC2 | c.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 | |
X | g.53250878A>T | CA516674120 | IQSEC2 | c.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 | |
X | g.53250878dup | CA2429775668 | IQSEC2 | c.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 |
X | g.53250879C>A | CA10420010 | IQSEC2 | c.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 |
X | g.53250879C= | CA2429775669 | IQSEC2 | c.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= | |
X | g.53250879C>G | CA413164494 | IQSEC2 | c.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 | |
X | g.53250879C>T | CA413164498 | IQSEC2 | c.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 | |
X | g.53250880C>A | CA413164505 | IQSEC2 | c.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 | |
X | g.53250880C= | CA2429775670 | IQSEC2 | c.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= | |
X | g.53250880C>G | CA413164510 | IQSEC2 | c.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 | |
X | g.53250880C>T | CA10420011 | IQSEC2 | c.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 |
X | g.53250881G>A | CA10603988 | IQSEC2 | c.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 |
X | g.53250881G>C | CA413164521 | IQSEC2 | c.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 | |
X | g.53250881G= | CA2429775671 | IQSEC2 | c.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= | |
X | g.53250881G>T | CA413164524 | IQSEC2 | c.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 | |
X | g.53250882T>A | CA10420012 | IQSEC2 | c.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 |
X | g.53250882T>C | CA413164529 | IQSEC2 | c.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 | |
X | g.53250882T>G | CA413164532 | IQSEC2 | c.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 | |
X | g.53250882T= | CA2429775672 | IQSEC2 | c.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= | |
X | g.53250883C>A | CA413164545 | IQSEC2 | c.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 | |
X | g.53250883C>G | CA413164541 | IQSEC2 | c.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 | |
X | g.53250883C>T | CA413164538 | IQSEC2 | c.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 | |
X | g.53250884T>A | CA413164549 | IQSEC2 | c.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 |
X | g.53250884T>C | CA516674126 | IQSEC2 | c.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 | |
X | g.53250884T>G | CA413164552 | IQSEC2 | c.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 | |
X | g.53250885T>A | CA413164556 | IQSEC2 | c.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 | |
X | g.53250885T>C | CA413164560 | IQSEC2 | c.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 | |
X | g.53250885T>G | CA413164562 | IQSEC2 | c.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 |
X | g.53250886C>A | CA413164566 | IQSEC2 | c.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 | |
X | g.53250886C>G | CA413164568 | IQSEC2 | c.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 | |
X | g.53250886C>T | CA413164569 | IQSEC2 | c.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 | |
X | g.53250887C>A | CA516674130 | IQSEC2 | c.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 |
X | g.53250887C= | CA2429775673 | IQSEC2 | c.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= | |
X | g.53250887C>G | CA516674132 | IQSEC2 | c.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 | |
X | g.53250887C>T | CA516674134 | IQSEC2 | c.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 | |
X | g.53250888C>A | CA413164572 | IQSEC2 | c.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 | |
X | g.53250888C= | CA2429775674 | IQSEC2 | c.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= | |
X | g.53250888C>G | CA413164574 | IQSEC2 | c.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 | |
X | g.53250888C>T | CA413164578 | IQSEC2 | c.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 |
X | g.53250889G>A | CA413164582 | IQSEC2 | c.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 |
X | g.53250889G>C | CA413164583 | IQSEC2 | c.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 |
X | g.53250889G= | CA2429775675 | IQSEC2 | c.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= | |
X | g.53250889G>T | CA516674135 | IQSEC2 | c.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 | |
X | g.53250890G>A | CA516674137 | IQSEC2 | c.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 | |
X | g.53250890G>C | CA516674138 | IQSEC2 | c.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 | |
X | g.53250890G>T | CA516674139 | IQSEC2 | c.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 | |
X | g.53250891G>A | CA413164588 | IQSEC2 | c.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 |
X | g.53250891G>C | CA413164591 | IQSEC2 | c.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 | |
X | g.53250891G= | CA2429775676 | IQSEC2 | c.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= | |
X | g.53250891G>T | CA413164586 | IQSEC2 | c.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 | |
X | g.53250892T>A | CA413164594 | IQSEC2 | c.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 | |
X | g.53250892T>C | CA413164596 | IQSEC2 | c.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 |
X | g.53250892T>G | CA413164599 | IQSEC2 | c.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 |
X | g.53250892T= | CA2429775677 | IQSEC2 | c.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= | |
X | g.53250893T>A | CA516674140 | IQSEC2 | c.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 | |
X | g.53250893T>C | CA516674142 | IQSEC2 | c.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 | |
X | g.53250893T>G | CA516674141 | IQSEC2 | c.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 | |
X | g.53250894C>A | CA413164606 | IQSEC2 | c.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 | |
X | g.53250894C>G | CA413164607 | IQSEC2 | c.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 | |
X | g.53250894C>T | CA413164609 | IQSEC2 | c.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 | |
X | g.53250895C>A | CA413164611 | IQSEC2 | c.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 | |
X | g.53250895C>G | CA413164614 | IQSEC2 | c.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 | |
X | g.53250895C>T | CA413164616 | IQSEC2 | c.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 | |
X | g.53250896T>A | CA516674143 | IQSEC2 | c.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 | |
X | g.53250896T>C | CA10420013 | IQSEC2 | c.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 |
X | g.53250896T>G | CA516674144 | IQSEC2 | c.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 | |
X | g.53250896T= | CA2429775678 | IQSEC2 | c.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= | |
X | g.53250897G>A | CA413164629 | IQSEC2 | c.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 | |
X | g.53250897G>C | CA413164624 | IQSEC2 | c.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 | |
X | g.53250897G>T | CA413164622 | IQSEC2 | c.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 | |
X | g.53250898A>C | CA413164632 | IQSEC2 | c.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 | |
X | g.53250898A>G | CA413164634 | IQSEC2 | c.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 | |
X | g.53250898A>T | CA413164636 | IQSEC2 | c.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 | |
X | g.53250899T>A | CA516674146 | IQSEC2 | c.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 | |
X | g.53250899T>C | CA516674147 | IQSEC2 | c.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 |
X | g.53250899T>G | CA516674148 | IQSEC2 | c.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 | |
X | g.53250899T= | CA2429775679 | IQSEC2 | c.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= | |
X | g.53250899_53250900delinsTG | CA2429775680 | IQSEC2 | c.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 | |
X | g.53250900G>A | CA413164638 | IQSEC2 | c.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 |
X | g.53250900G>C | CA413164640 | IQSEC2 | c.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 | |
X | g.53250900G= | CA2429775681 | IQSEC2 | c.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= | |
X | g.53250900G>T | CA413164642 | IQSEC2 | c.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 | |
X | g.53250901del | CA658799751 | IQSEC2 | c.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 |
X | g.53250901G>A | CA10420014 | IQSEC2 | c.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 |
X | g.53250901G>C | CA413164646 | IQSEC2 | c.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 | |
X | g.53250901G= | CA2429775682 | IQSEC2 | c.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= | |
X | g.53250901G>T | CA413164649 | IQSEC2 | c.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 | |
X | g.53250902C>A | CA516674154 | IQSEC2 | c.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 |
X | g.53250902C>G | CA516674153 | IQSEC2 | c.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 | |
X | g.53250902C>T | CA516674152 | IQSEC2 | c.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 | |
X | g.53250903A= | CA2429775683 | IQSEC2 | c.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= | |
X | g.53250903A>C | CA10420015 | IQSEC2 | c.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 |
X | g.53250903A>G | CA413164653 | IQSEC2 | c.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 | |
X | g.53250903A>T | CA413164656 | IQSEC2 | c.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 | |
X | g.53250904C>A | CA413164658 | IQSEC2 | c.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 | |
X | g.53250904C= | CA2429775684 | IQSEC2 | c.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= | |
X | g.53250904C>G | CA413164661 | IQSEC2 | c.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 |
X | g.53250904C>T | CA413164657 | IQSEC2 | c.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 |
X | g.53250905T>A | CA516674157 | IQSEC2 | c.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 | |
X | g.53250905T>C | CA516674158 | IQSEC2 | c.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 | |
X | g.53250905T>G | CA516674159 | IQSEC2 | c.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 | |
X | g.53250906G>A | CA413164668 | IQSEC2 | c.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 |
X | g.53250906G>C | CA413164663 | IQSEC2 | c.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 | |
X | g.53250906G>T | CA413164666 | IQSEC2 | c.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 | |
X | g.53250907G>A | CA413164671 | IQSEC2 | c.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 | |
X | g.53250907G>C | CA413164674 | IQSEC2 | c.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 |
X | g.53250907G= | CA2429775685 | IQSEC2 | c.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= | |
X | g.53250907G>T | CA413164677 | IQSEC2 | c.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 | |
X | g.53250908T>A | CA516674163 | IQSEC2 | c.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 | |
X | g.53250908T>C | CA516674164 | IQSEC2 | c.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 |
X | g.53250908T>G | CA516674165 | IQSEC2 | c.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 | |
X | g.53250909G>A | CA10420016 | IQSEC2 | c.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 |
X | g.53250909G>C | CA413164683 | IQSEC2 | c.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 | |
X | g.53250909G= | CA2429775686 | IQSEC2 | c.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= | |
X | g.53250909G>T | CA413164685 | IQSEC2 | c.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 | |
X | g.53250913_53250925dup | CA2580101191 | IQSEC2 | c.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 |
X | g.53250910G>A | CA413164689 | IQSEC2 | c.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 |
X | g.53250910G>C | CA413164691 | IQSEC2 | c.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 | |
X | g.53250910G= | CA2429775687 | IQSEC2 | c.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= | |
X | g.53250910G>T | CA413164694 | IQSEC2 | c.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 | |
X | g.53250911A= | CA2429775688 | IQSEC2 | c.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= | |
X | g.53250911A>C | CA516674166 | IQSEC2 | c.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 | |
X | g.53250911A>G | CA329166239 | IQSEC2 | c.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 |
X | g.53250911A>T | CA516674167 | IQSEC2 | c.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 | |
X | g.53250912G>A | CA413164703 | IQSEC2 | c.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 | |
X | g.53250912G>C | CA413164698 | IQSEC2 | c.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 |
X | g.53250912G= | CA2429775689 | IQSEC2 | c.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= | |
X | g.53250912G>T | CA413164700 | IQSEC2 | c.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 | |
X | g.53250913G>A | CA413164706 | IQSEC2 | c.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 | |
X | g.53250913G>C | CA413164707 | IQSEC2 | c.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 | |
X | g.53250913G>T | CA413164708 | IQSEC2 | c.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 | |
X | g.53250914A>C | CA516674168 | IQSEC2 | c.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 | |
X | g.53250914A>G | CA516674169 | IQSEC2 | c.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 | |
X | g.53250914A>T | CA516674170 | IQSEC2 | c.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 | |
X | g.53250915A>C | CA413164710 | IQSEC2 | c.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 | |
X | g.53250915A>G | CA413164712 | IQSEC2 | c.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 | |
X | g.53250915A>T | CA413164715 | IQSEC2 | c.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 | |
X | g.53250916C>A | CA413164718 | IQSEC2 | c.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 | |
X | g.53250916C= | CA2429775690 | IQSEC2 | c.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= | |
X | g.53250916C>G | CA413164721 | IQSEC2 | c.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 |
X | g.53250916C>T | CA413164723 | IQSEC2 | c.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 | |
X | g.53250917T>A | CA516674171 | IQSEC2 | c.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 | |
X | g.53250917T>C | CA516674172 | IQSEC2 | c.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 | |
X | g.53250917T>G | CA516674173 | IQSEC2 | c.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 | |
X | g.53250918G>A | CA10420018 | IQSEC2 | c.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 |
X | g.53250918G>C | CA413164728 | IQSEC2 | c.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 | |
X | g.53250918G= | CA2429775691 | IQSEC2 | c.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= | |
X | g.53250918G>T | CA10420017 | IQSEC2 | c.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 |
X | g.53250919G>A | CA10420019 | IQSEC2 | c.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 |
X | g.53250919G>C | CA413164739 | IQSEC2 | c.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 | |
X | g.53250919G= | CA2429775692 | IQSEC2 | c.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= | |
X | g.53250919G>T | CA413164733 | IQSEC2 | c.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 | |
X | g.53250920C>A | CA516674174 | IQSEC2 | c.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 |
X | g.53250920C= | CA2429775693 | IQSEC2 | c.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= | |
X | g.53250920C>G | CA516674175 | IQSEC2 | c.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 | |
X | g.53250920C>T | CA10420020 | IQSEC2 | c.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 |
X | g.53250921G>A | CA413164744 | IQSEC2 | c.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 |
X | g.53250921G>C | CA413164746 | IQSEC2 | c.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 | |
X | g.53250921G= | CA2429775694 | IQSEC2 | c.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= | |
X | g.53250921G>T | CA413164749 | IQSEC2 | c.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 |
X | g.53250922G>A | CA413164753 | IQSEC2 | c.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 | |
X | g.53250922G>C | CA413164755 | IQSEC2 | c.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 | |
X | g.53250922G= | CA2429775695 | IQSEC2 | c.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= | |
X | g.53250922G>T | CA16621446 | IQSEC2 | c.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 |
X | g.53250923G>A | CA10420021 | IQSEC2 | c.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 |
X | g.53250923G>C | CA516674177 | IQSEC2 | c.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 |
X | g.53250923G= | CA2429775696 | IQSEC2 | c.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= | |
X | g.53250923G>T | CA516674176 | IQSEC2 | c.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 | |
X | g.53250924A= | CA2429775697 | IQSEC2 | c.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= | |
X | g.53250924A>C | CA413164763 | IQSEC2 | c.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 | |
X | g.53250924A>G | CA10420022 | IQSEC2 | c.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 |
X | g.53250924A>T | CA413164767 | IQSEC2 | c.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 | |
X | g.53250925G>A | CA413164769 | IQSEC2 | c.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 | |
X | g.53250925G>C | CA413164773 | IQSEC2 | c.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 |
X | g.53250925G>T | CA413164775 | IQSEC2 | c.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 | |
X | g.53250926A= | CA2429775698 | IQSEC2 | c.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= | |
X | g.53250926A>C | CA516674178 | IQSEC2 | c.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 | |
X | g.53250926A>G | CA516674179 | IQSEC2 | c.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 |
X | g.53250926A>T | CA516674180 | IQSEC2 | c.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 | |
X | g.53250927G>A | CA413164781 | IQSEC2 | c.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 | |
X | g.53250927G>C | CA413164787 | IQSEC2 | c.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 | |
X | g.53250927G>T | CA413164784 | IQSEC2 | c.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 | |
X | g.53250930dup | CA658658988 | IQSEC2 | c.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 |
X | g.53250928G>A | CA413164790 | IQSEC2 | c.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 |
X | g.53250928G>C | CA10420023 | IQSEC2 | c.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 |
X | g.53250928G= | CA2429775699 | IQSEC2 | c.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= | |
X | g.53250928G>T | CA413164794 | IQSEC2 | c.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 | |
X | g.53250929G>A | CA516674181 | IQSEC2 | c.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 |
X | g.53250929G>C | CA516674182 | IQSEC2 | c.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 |
X | g.53250929G>T | CA516674183 | IQSEC2 | c.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 | |
X | g.53250930G>A | CA413164798 | IQSEC2 | c.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 | |
X | g.53250930G>C | CA413164802 | IQSEC2 | c.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 | |
X | g.53250930G= | CA2429775700 | IQSEC2 | c.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= | |
X | g.53250930G>T | CA413164804 | IQSEC2 | c.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 |
X | g.53250931C>A | CA413164812 | IQSEC2 | c.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 | |
X | g.53250931C= | CA2429775701 | IQSEC2 | c.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= | |
X | g.53250931C>G | CA413164816 | IQSEC2 | c.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 |
X | g.53250931C>T | CA413164819 | IQSEC2 | c.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 | |
X | g.53250932T>A | CA516674184 | IQSEC2 | c.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 |
X | g.53250932T>C | CA516674185 | IQSEC2 | c.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 | |
X | g.53250932T>G | CA516674186 | IQSEC2 | c.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 | |
X | g.53250932T= | CA2429775702 | IQSEC2 | c.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= | |
X | g.53250933G>A | CA10420024 | IQSEC2 | c.1802C>T (p.Pro601Leu) c.1643C>T (p.Pro548Leu) c.1613C>T (p.Pro538Leu) c.1028C>T (p.Pro343Leu) c.1739C>T (p.Pro580Leu) c.965C>T (p.Pro322Leu) c.932C>T (p.Pro311Leu) n.1966C>T c.1145C>T (p.Pro382Leu) n.1960C>T | dbSNP ExAC |
X | g.53250933G>C | CA413164825 | IQSEC2 | c.1802C>G (p.Pro601Arg) c.1643C>G (p.Pro548Arg) c.1613C>G (p.Pro538Arg) c.1028C>G (p.Pro343Arg) c.1739C>G (p.Pro580Arg) c.965C>G (p.Pro322Arg) c.932C>G (p.Pro311Arg) n.1966C>G c.1145C>G (p.Pro382Arg) n.1960C>G | |
X | g.53250933G= | CA2429775703 | IQSEC2 | c.1802C= (p.Pro601=) c.1643C= (p.Pro548=) c.1613C= (p.Pro538=) c.1028C= (p.Pro343=) c.1739C= (p.Pro580=) c.965C= (p.Pro322=) c.932C= (p.Pro311=) n.1966C= c.1145C= (p.Pro382=) n.1960C= | |
X | g.53250933G>T | CA413164828 | IQSEC2 | c.1802C>A (p.Pro601Gln) c.1643C>A (p.Pro548Gln) c.1613C>A (p.Pro538Gln) c.1028C>A (p.Pro343Gln) c.1739C>A (p.Pro580Gln) c.965C>A (p.Pro322Gln) c.932C>A (p.Pro311Gln) n.1966C>A c.1145C>A (p.Pro382Gln) n.1960C>A | |
X | g.53250934dup | CA641903991 | IQSEC2 | c.1802dup (p.Ala602SerfsTer19) c.1643dup (p.Ala549SerfsTer19) c.1613dup (p.Ala539SerfsTer19) c.1028dup (p.Ala344SerfsTer19) c.1739dup (p.Ala581SerfsTer19) c.965dup (p.Ala323SerfsTer19) c.932dup (p.Ala312SerfsTer19) n.1966dup c.1145dup (p.Ala383SerfsTer19) n.1960dup | dbSNP gnomAD v2 gnomAD v4 |
X | g.53250934G>A | CA413164835 | IQSEC2 | c.1801C>T (p.Pro601Ser) c.1642C>T (p.Pro548Ser) c.1612C>T (p.Pro538Ser) c.1027C>T (p.Pro343Ser) c.1738C>T (p.Pro580Ser) c.964C>T (p.Pro322Ser) c.931C>T (p.Pro311Ser) n.1965C>T c.1144C>T (p.Pro382Ser) n.1959C>T | |
X | g.53250934G>C | CA413164834 | IQSEC2 | c.1801C>G (p.Pro601Ala) c.1642C>G (p.Pro548Ala) c.1612C>G (p.Pro538Ala) c.1027C>G (p.Pro343Ala) c.1738C>G (p.Pro580Ala) c.964C>G (p.Pro322Ala) c.931C>G (p.Pro311Ala) n.1965C>G c.1144C>G (p.Pro382Ala) n.1959C>G | dbSNP |
X | g.53250934G>T | CA413164832 | IQSEC2 | c.1801C>A (p.Pro601Thr) c.1642C>A (p.Pro548Thr) c.1612C>A (p.Pro538Thr) c.1027C>A (p.Pro343Thr) c.1738C>A (p.Pro580Thr) c.964C>A (p.Pro322Thr) c.931C>A (p.Pro311Thr) n.1965C>A c.1144C>A (p.Pro382Thr) n.1959C>A | |
X | g.53250935C>A | CA516674187 | IQSEC2 | c.1800G>T (p.Ala600=) c.1641G>T (p.Ala547=) c.1611G>T (p.Ala537=) c.1026G>T (p.Ala342=) c.1737G>T (p.Ala579=) c.963G>T (p.Ala321=) c.930G>T (p.Ala310=) n.1964G>T c.1143G>T (p.Ala381=) n.1958G>T | gnomAD v4 |
X | g.53250935C= | CA2429775704 | IQSEC2 | c.1800G= (p.Ala600=) c.1641G= (p.Ala547=) c.1611G= (p.Ala537=) c.1026G= (p.Ala342=) c.1737G= (p.Ala579=) c.963G= (p.Ala321=) c.930G= (p.Ala310=) n.1964G= c.1143G= (p.Ala381=) n.1958G= | |
X | g.53250935C>G | CA10420025 | IQSEC2 | c.1800G>C (p.Ala600=) c.1641G>C (p.Ala547=) c.1611G>C (p.Ala537=) c.1026G>C (p.Ala342=) c.1737G>C (p.Ala579=) c.963G>C (p.Ala321=) c.930G>C (p.Ala310=) n.1964G>C c.1143G>C (p.Ala381=) n.1958G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53250935C>T | CA153181 | IQSEC2 | c.1800G>A (p.Ala600=) c.1641G>A (p.Ala547=) c.1611G>A (p.Ala537=) c.1026G>A (p.Ala342=) c.1737G>A (p.Ala579=) c.963G>A (p.Ala321=) c.930G>A (p.Ala310=) n.1964G>A c.1143G>A (p.Ala381=) n.1958G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.53250936G>A | CA413164848 | IQSEC2 | c.1799C>T (p.Ala600Val) c.1640C>T (p.Ala547Val) c.1610C>T (p.Ala537Val) c.1025C>T (p.Ala342Val) c.1736C>T (p.Ala579Val) c.962C>T (p.Ala321Val) c.929C>T (p.Ala310Val) n.1963C>T c.1142C>T (p.Ala381Val) n.1957C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.53250936G>C | CA413164851 | IQSEC2 | c.1799C>G (p.Ala600Gly) c.1640C>G (p.Ala547Gly) c.1610C>G (p.Ala537Gly) c.1025C>G (p.Ala342Gly) c.1736C>G (p.Ala579Gly) c.962C>G (p.Ala321Gly) c.929C>G (p.Ala310Gly) n.1963C>G c.1142C>G (p.Ala381Gly) n.1957C>G | dbSNP |
X | g.53250936G= | CA2429775705 | IQSEC2 | c.1799C= (p.Ala600=) c.1640C= (p.Ala547=) c.1610C= (p.Ala537=) c.1025C= (p.Ala342=) c.1736C= (p.Ala579=) c.962C= (p.Ala321=) c.929C= (p.Ala310=) n.1963C= c.1142C= (p.Ala381=) n.1957C= | |
X | g.53250936G>T | CA413164854 | IQSEC2 | c.1799C>A (p.Ala600Glu) c.1640C>A (p.Ala547Glu) c.1610C>A (p.Ala537Glu) c.1025C>A (p.Ala342Glu) c.1736C>A (p.Ala579Glu) c.962C>A (p.Ala321Glu) c.929C>A (p.Ala310Glu) n.1963C>A c.1142C>A (p.Ala381Glu) n.1957C>A | |
X | g.53250937C>A | CA413164858 | IQSEC2 | c.1798G>T (p.Ala600Ser) c.1639G>T (p.Ala547Ser) c.1609G>T (p.Ala537Ser) c.1024G>T (p.Ala342Ser) c.1735G>T (p.Ala579Ser) c.961G>T (p.Ala321Ser) c.928G>T (p.Ala310Ser) n.1962G>T c.1141G>T (p.Ala381Ser) n.1956G>T | |
X | g.53250937C= | CA2429775706 | IQSEC2 | c.1798G= (p.Ala600=) c.1639G= (p.Ala547=) c.1609G= (p.Ala537=) c.1024G= (p.Ala342=) c.1735G= (p.Ala579=) c.961G= (p.Ala321=) c.928G= (p.Ala310=) n.1962G= c.1141G= (p.Ala381=) n.1956G= | |
X | g.53250937C>G | CA10420026 | IQSEC2 | c.1798G>C (p.Ala600Pro) c.1639G>C (p.Ala547Pro) c.1609G>C (p.Ala537Pro) c.1024G>C (p.Ala342Pro) c.1735G>C (p.Ala579Pro) c.961G>C (p.Ala321Pro) c.928G>C (p.Ala310Pro) n.1962G>C c.1141G>C (p.Ala381Pro) n.1956G>C | dbSNP ExAC gnomAD v2 |
X | g.53250937C>T | CA413164863 | IQSEC2 | c.1798G>A (p.Ala600Thr) c.1639G>A (p.Ala547Thr) c.1609G>A (p.Ala537Thr) c.1024G>A (p.Ala342Thr) c.1735G>A (p.Ala579Thr) c.961G>A (p.Ala321Thr) c.928G>A (p.Ala310Thr) n.1962G>A c.1141G>A (p.Ala381Thr) n.1956G>A | |
X | g.53250938C>A | CA413164870 | IQSEC2 | c.1797G>T (p.Trp599Cys) c.1638G>T (p.Trp546Cys) c.1608G>T (p.Trp536Cys) c.1023G>T (p.Trp341Cys) c.1734G>T (p.Trp578Cys) c.960G>T (p.Trp320Cys) c.927G>T (p.Trp309Cys) n.1961G>T c.1140G>T (p.Trp380Cys) n.1955G>T | |
X | g.53250938C>G | CA413164872 | IQSEC2 | c.1797G>C (p.Trp599Cys) c.1638G>C (p.Trp546Cys) c.1608G>C (p.Trp536Cys) c.1023G>C (p.Trp341Cys) c.1734G>C (p.Trp578Cys) c.960G>C (p.Trp320Cys) c.927G>C (p.Trp309Cys) n.1961G>C c.1140G>C (p.Trp380Cys) n.1955G>C | |
X | g.53250938C>T | CA413164874 | IQSEC2 | c.1797G>A (p.Trp599Ter) c.1638G>A (p.Trp546Ter) c.1608G>A (p.Trp536Ter) c.1023G>A (p.Trp341Ter) c.1734G>A (p.Trp578Ter) c.960G>A (p.Trp320Ter) c.927G>A (p.Trp309Ter) n.1961G>A c.1140G>A (p.Trp380Ter) n.1955G>A | |
X | g.53250939C>A | CA413164877 | IQSEC2 | c.1796G>T (p.Trp599Leu) c.1637G>T (p.Trp546Leu) c.1607G>T (p.Trp536Leu) c.1022G>T (p.Trp341Leu) c.1733G>T (p.Trp578Leu) c.959G>T (p.Trp320Leu) c.926G>T (p.Trp309Leu) n.1960G>T c.1139G>T (p.Trp380Leu) n.1954G>T | |
X | g.53250939C= | CA2429775707 | IQSEC2 | c.1796G= (p.Trp599=) c.1637G= (p.Trp546=) c.1607G= (p.Trp536=) c.1022G= (p.Trp341=) c.1733G= (p.Trp578=) c.959G= (p.Trp320=) c.926G= (p.Trp309=) n.1960G= c.1139G= (p.Trp380=) n.1954G= | |
X | g.53250939C>G | CA413164878 | IQSEC2 | c.1796G>C (p.Trp599Ser) c.1637G>C (p.Trp546Ser) c.1607G>C (p.Trp536Ser) c.1022G>C (p.Trp341Ser) c.1733G>C (p.Trp578Ser) c.959G>C (p.Trp320Ser) c.926G>C (p.Trp309Ser) n.1960G>C c.1139G>C (p.Trp380Ser) n.1954G>C | |
X | g.53250939C>T | CA413164879 | IQSEC2 | c.1796G>A (p.Trp599Ter) c.1637G>A (p.Trp546Ter) c.1607G>A (p.Trp536Ter) c.1022G>A (p.Trp341Ter) c.1733G>A (p.Trp578Ter) c.959G>A (p.Trp320Ter) c.926G>A (p.Trp309Ter) n.1960G>A c.1139G>A (p.Trp380Ter) n.1954G>A | ClinVar dbSNP COSMIC COSMIC COSMIC |