| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53250751G>A | CA413163358 | IQSEC2 | c.1984C>T (p.Arg662Cys) c.1825C>T (p.Arg609Cys) c.1795C>T (p.Arg599Cys) c.1210C>T (p.Arg404Cys) c.1921C>T (p.Arg641Cys) c.1147C>T (p.Arg383Cys) c.1114C>T (p.Arg372Cys) n.2148C>T c.1327C>T (p.Arg443Cys) n.2142C>T | ClinVar dbSNP gnomAD v4 |
| X | g.53250751G>C | CA413163361 | IQSEC2 | c.1984C>G (p.Arg662Gly) c.1825C>G (p.Arg609Gly) c.1795C>G (p.Arg599Gly) c.1210C>G (p.Arg404Gly) c.1921C>G (p.Arg641Gly) c.1147C>G (p.Arg383Gly) c.1114C>G (p.Arg372Gly) n.2148C>G c.1327C>G (p.Arg443Gly) n.2142C>G | |
| X | g.53250751G= | CA2429775634 | IQSEC2 | c.1984C= (p.Arg662=) c.1825C= (p.Arg609=) c.1795C= (p.Arg599=) c.1210C= (p.Arg404=) c.1921C= (p.Arg641=) c.1147C= (p.Arg383=) c.1114C= (p.Arg372=) n.2148C= c.1327C= (p.Arg443=) n.2142C= | |
| X | g.53250751G>T | CA413163363 | IQSEC2 | c.1984C>A (p.Arg662Ser) c.1825C>A (p.Arg609Ser) c.1795C>A (p.Arg599Ser) c.1210C>A (p.Arg404Ser) c.1921C>A (p.Arg641Ser) c.1147C>A (p.Arg383Ser) c.1114C>A (p.Arg372Ser) n.2148C>A c.1327C>A (p.Arg443Ser) n.2142C>A | |
| X | g.53250752G>A | CA516674136 | IQSEC2 | c.1983C>T (p.Asp661=) c.1824C>T (p.Asp608=) c.1794C>T (p.Asp598=) c.1209C>T (p.Asp403=) c.1920C>T (p.Asp640=) c.1146C>T (p.Asp382=) c.1113C>T (p.Asp371=) n.2147C>T c.1326C>T (p.Asp442=) n.2141C>T | |
| X | g.53250752G>C | CA413163367 | IQSEC2 | c.1983C>G (p.Asp661Glu) c.1824C>G (p.Asp608Glu) c.1794C>G (p.Asp598Glu) c.1209C>G (p.Asp403Glu) c.1920C>G (p.Asp640Glu) c.1146C>G (p.Asp382Glu) c.1113C>G (p.Asp371Glu) n.2147C>G c.1326C>G (p.Asp442Glu) n.2141C>G | |
| X | g.53250752G>T | CA413163368 | IQSEC2 | c.1983C>A (p.Asp661Glu) c.1824C>A (p.Asp608Glu) c.1794C>A (p.Asp598Glu) c.1209C>A (p.Asp403Glu) c.1920C>A (p.Asp640Glu) c.1146C>A (p.Asp382Glu) c.1113C>A (p.Asp371Glu) n.2147C>A c.1326C>A (p.Asp442Glu) n.2141C>A | |
| X | g.53250753T>A | CA413163372 | IQSEC2 | c.1982A>T (p.Asp661Val) c.1823A>T (p.Asp608Val) c.1793A>T (p.Asp598Val) c.1208A>T (p.Asp403Val) c.1919A>T (p.Asp640Val) c.1145A>T (p.Asp382Val) c.1112A>T (p.Asp371Val) n.2146A>T c.1325A>T (p.Asp442Val) n.2140A>T | |
| X | g.53250753T>C | CA413163378 | IQSEC2 | c.1982A>G (p.Asp661Gly) c.1823A>G (p.Asp608Gly) c.1793A>G (p.Asp598Gly) c.1208A>G (p.Asp403Gly) c.1919A>G (p.Asp640Gly) c.1145A>G (p.Asp382Gly) c.1112A>G (p.Asp371Gly) n.2146A>G c.1325A>G (p.Asp442Gly) n.2140A>G | |
| X | g.53250753T>G | CA413163375 | IQSEC2 | c.1982A>C (p.Asp661Ala) c.1823A>C (p.Asp608Ala) c.1793A>C (p.Asp598Ala) c.1208A>C (p.Asp403Ala) c.1919A>C (p.Asp640Ala) c.1145A>C (p.Asp382Ala) c.1112A>C (p.Asp371Ala) n.2146A>C c.1325A>C (p.Asp442Ala) n.2140A>C | |
| X | g.53250754C>A | CA413163382 | IQSEC2 | c.1981G>T (p.Asp661Tyr) c.1822G>T (p.Asp608Tyr) c.1792G>T (p.Asp598Tyr) c.1207G>T (p.Asp403Tyr) c.1918G>T (p.Asp640Tyr) c.1144G>T (p.Asp382Tyr) c.1111G>T (p.Asp371Tyr) n.2145G>T c.1324G>T (p.Asp442Tyr) n.2139G>T | |
| X | g.53250754C>G | CA413163389 | IQSEC2 | c.1981G>C (p.Asp661His) c.1822G>C (p.Asp608His) c.1792G>C (p.Asp598His) c.1207G>C (p.Asp403His) c.1918G>C (p.Asp640His) c.1144G>C (p.Asp382His) c.1111G>C (p.Asp371His) n.2145G>C c.1324G>C (p.Asp442His) n.2139G>C | |
| X | g.53250754C>T | CA413163392 | IQSEC2 | c.1981G>A (p.Asp661Asn) c.1822G>A (p.Asp608Asn) c.1792G>A (p.Asp598Asn) c.1207G>A (p.Asp403Asn) c.1918G>A (p.Asp640Asn) c.1144G>A (p.Asp382Asn) c.1111G>A (p.Asp371Asn) n.2145G>A c.1324G>A (p.Asp442Asn) n.2139G>A | |
| X | g.53250755A>C | CA413163396 | IQSEC2 | c.1980T>G (p.Ser660Arg) c.1821T>G (p.Ser607Arg) c.1791T>G (p.Ser597Arg) c.1206T>G (p.Ser402Arg) c.1917T>G (p.Ser639Arg) c.1143T>G (p.Ser381Arg) c.1110T>G (p.Ser370Arg) n.2144T>G c.1323T>G (p.Ser441Arg) n.2138T>G | |
| X | g.53250755A>G | CA516674145 | IQSEC2 | c.1980T>C (p.Ser660=) c.1821T>C (p.Ser607=) c.1791T>C (p.Ser597=) c.1206T>C (p.Ser402=) c.1917T>C (p.Ser639=) c.1143T>C (p.Ser381=) c.1110T>C (p.Ser370=) n.2144T>C c.1323T>C (p.Ser441=) n.2138T>C | |
| X | g.53250755A>T | CA413163400 | IQSEC2 | c.1980T>A (p.Ser660Arg) c.1821T>A (p.Ser607Arg) c.1791T>A (p.Ser597Arg) c.1206T>A (p.Ser402Arg) c.1917T>A (p.Ser639Arg) c.1143T>A (p.Ser381Arg) c.1110T>A (p.Ser370Arg) n.2144T>A c.1323T>A (p.Ser441Arg) n.2138T>A | |
| X | g.53250756C>A | CA413163405 | IQSEC2 | c.1979G>T (p.Ser660Ile) c.1820G>T (p.Ser607Ile) c.1790G>T (p.Ser597Ile) c.1205G>T (p.Ser402Ile) c.1916G>T (p.Ser639Ile) c.1142G>T (p.Ser381Ile) c.1109G>T (p.Ser370Ile) n.2143G>T c.1322G>T (p.Ser441Ile) n.2137G>T | |
| X | g.53250756C>G | CA413163409 | IQSEC2 | c.1979G>C (p.Ser660Thr) c.1820G>C (p.Ser607Thr) c.1790G>C (p.Ser597Thr) c.1205G>C (p.Ser402Thr) c.1916G>C (p.Ser639Thr) c.1142G>C (p.Ser381Thr) c.1109G>C (p.Ser370Thr) n.2143G>C c.1322G>C (p.Ser441Thr) n.2137G>C | |
| X | g.53250756C>T | CA413163413 | IQSEC2 | c.1979G>A (p.Ser660Asn) c.1820G>A (p.Ser607Asn) c.1790G>A (p.Ser597Asn) c.1205G>A (p.Ser402Asn) c.1916G>A (p.Ser639Asn) c.1142G>A (p.Ser381Asn) c.1109G>A (p.Ser370Asn) n.2143G>A c.1322G>A (p.Ser441Asn) n.2137G>A | |
| X | g.53250757T>A | CA413163417 | IQSEC2 | c.1978A>T (p.Ser660Cys) c.1819A>T (p.Ser607Cys) c.1789A>T (p.Ser597Cys) c.1204A>T (p.Ser402Cys) c.1915A>T (p.Ser639Cys) c.1141A>T (p.Ser381Cys) c.1108A>T (p.Ser370Cys) n.2142A>T c.1321A>T (p.Ser441Cys) n.2136A>T | |
| X | g.53250757T>C | CA413163420 | IQSEC2 | c.1978A>G (p.Ser660Gly) c.1819A>G (p.Ser607Gly) c.1789A>G (p.Ser597Gly) c.1204A>G (p.Ser402Gly) c.1915A>G (p.Ser639Gly) c.1141A>G (p.Ser381Gly) c.1108A>G (p.Ser370Gly) n.2142A>G c.1321A>G (p.Ser441Gly) n.2136A>G | |
| X | g.53250757T>G | CA413163424 | IQSEC2 | c.1978A>C (p.Ser660Arg) c.1819A>C (p.Ser607Arg) c.1789A>C (p.Ser597Arg) c.1204A>C (p.Ser402Arg) c.1915A>C (p.Ser639Arg) c.1141A>C (p.Ser381Arg) c.1108A>C (p.Ser370Arg) n.2142A>C c.1321A>C (p.Ser441Arg) n.2136A>C | ClinVar |
| X | g.53250758C>A | CA516674149 | IQSEC2 | c.1977G>T (p.Leu659=) c.1818G>T (p.Leu606=) c.1788G>T (p.Leu596=) c.1203G>T (p.Leu401=) c.1914G>T (p.Leu638=) c.1140G>T (p.Leu380=) c.1107G>T (p.Leu369=) n.2141G>T c.1320G>T (p.Leu440=) n.2135G>T | |
| X | g.53250758C= | CA2429775635 | IQSEC2 | c.1977G= (p.Leu659=) c.1818G= (p.Leu606=) c.1788G= (p.Leu596=) c.1203G= (p.Leu401=) c.1914G= (p.Leu638=) c.1140G= (p.Leu380=) c.1107G= (p.Leu369=) n.2141G= c.1320G= (p.Leu440=) n.2135G= | |
| X | g.53250758C>G | CA516674150 | IQSEC2 | c.1977G>C (p.Leu659=) c.1818G>C (p.Leu606=) c.1788G>C (p.Leu596=) c.1203G>C (p.Leu401=) c.1914G>C (p.Leu638=) c.1140G>C (p.Leu380=) c.1107G>C (p.Leu369=) n.2141G>C c.1320G>C (p.Leu440=) n.2135G>C | |
| X | g.53250758C>T | CA516674151 | IQSEC2 | c.1977G>A (p.Leu659=) c.1818G>A (p.Leu606=) c.1788G>A (p.Leu596=) c.1203G>A (p.Leu401=) c.1914G>A (p.Leu638=) c.1140G>A (p.Leu380=) c.1107G>A (p.Leu369=) n.2141G>A c.1320G>A (p.Leu440=) n.2135G>A | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53250759A>C | CA413163438 | IQSEC2 | c.1976T>G (p.Leu659Arg) c.1817T>G (p.Leu606Arg) c.1787T>G (p.Leu596Arg) c.1202T>G (p.Leu401Arg) c.1913T>G (p.Leu638Arg) c.1139T>G (p.Leu380Arg) c.1106T>G (p.Leu369Arg) n.2140T>G c.1319T>G (p.Leu440Arg) n.2134T>G | |
| X | g.53250759A>G | CA413163436 | IQSEC2 | c.1976T>C (p.Leu659Pro) c.1817T>C (p.Leu606Pro) c.1787T>C (p.Leu596Pro) c.1202T>C (p.Leu401Pro) c.1913T>C (p.Leu638Pro) c.1139T>C (p.Leu380Pro) c.1106T>C (p.Leu369Pro) n.2140T>C c.1319T>C (p.Leu440Pro) n.2134T>C | |
| X | g.53250759A>T | CA413163433 | IQSEC2 | c.1976T>A (p.Leu659Gln) c.1817T>A (p.Leu606Gln) c.1787T>A (p.Leu596Gln) c.1202T>A (p.Leu401Gln) c.1913T>A (p.Leu638Gln) c.1139T>A (p.Leu380Gln) c.1106T>A (p.Leu369Gln) n.2140T>A c.1319T>A (p.Leu440Gln) n.2134T>A | |
| X | g.53250760G>A | CA516674155 | IQSEC2 | c.1975C>T (p.Leu659=) c.1816C>T (p.Leu606=) c.1786C>T (p.Leu596=) c.1201C>T (p.Leu401=) c.1912C>T (p.Leu638=) c.1138C>T (p.Leu380=) c.1105C>T (p.Leu369=) n.2139C>T c.1318C>T (p.Leu440=) n.2133C>T | ClinVar dbSNP gnomAD v4 |
| X | g.53250760G>C | CA413163439 | IQSEC2 | c.1975C>G (p.Leu659Val) c.1816C>G (p.Leu606Val) c.1786C>G (p.Leu596Val) c.1201C>G (p.Leu401Val) c.1912C>G (p.Leu638Val) c.1138C>G (p.Leu380Val) c.1105C>G (p.Leu369Val) n.2139C>G c.1318C>G (p.Leu440Val) n.2133C>G | |
| X | g.53250760G>T | CA413163440 | IQSEC2 | c.1975C>A (p.Leu659Met) c.1816C>A (p.Leu606Met) c.1786C>A (p.Leu596Met) c.1201C>A (p.Leu401Met) c.1912C>A (p.Leu638Met) c.1138C>A (p.Leu380Met) c.1105C>A (p.Leu369Met) n.2139C>A c.1318C>A (p.Leu440Met) n.2133C>A | |
| X | g.53250761G>A | CA516674156 | IQSEC2 | c.1974C>T (p.Asp658=) c.1815C>T (p.Asp605=) c.1785C>T (p.Asp595=) c.1200C>T (p.Asp400=) c.1911C>T (p.Asp637=) c.1137C>T (p.Asp379=) c.1104C>T (p.Asp368=) n.2138C>T c.1317C>T (p.Asp439=) n.2132C>T | |
| X | g.53250761G>C | CA413163441 | IQSEC2 | c.1974C>G (p.Asp658Glu) c.1815C>G (p.Asp605Glu) c.1785C>G (p.Asp595Glu) c.1200C>G (p.Asp400Glu) c.1911C>G (p.Asp637Glu) c.1137C>G (p.Asp379Glu) c.1104C>G (p.Asp368Glu) n.2138C>G c.1317C>G (p.Asp439Glu) n.2132C>G | |
| X | g.53250761G>T | CA413163444 | IQSEC2 | c.1974C>A (p.Asp658Glu) c.1815C>A (p.Asp605Glu) c.1785C>A (p.Asp595Glu) c.1200C>A (p.Asp400Glu) c.1911C>A (p.Asp637Glu) c.1137C>A (p.Asp379Glu) c.1104C>A (p.Asp368Glu) n.2138C>A c.1317C>A (p.Asp439Glu) n.2132C>A | gnomAD v4 |
| X | g.53250762T>A | CA413163448 | IQSEC2 | c.1973A>T (p.Asp658Val) c.1814A>T (p.Asp605Val) c.1784A>T (p.Asp595Val) c.1199A>T (p.Asp400Val) c.1910A>T (p.Asp637Val) c.1136A>T (p.Asp379Val) c.1103A>T (p.Asp368Val) n.2137A>T c.1316A>T (p.Asp439Val) n.2131A>T | |
| X | g.53250762T>C | CA413163455 | IQSEC2 | c.1973A>G (p.Asp658Gly) c.1814A>G (p.Asp605Gly) c.1784A>G (p.Asp595Gly) c.1199A>G (p.Asp400Gly) c.1910A>G (p.Asp637Gly) c.1136A>G (p.Asp379Gly) c.1103A>G (p.Asp368Gly) n.2137A>G c.1316A>G (p.Asp439Gly) n.2131A>G | |
| X | g.53250762T>G | CA413163458 | IQSEC2 | c.1973A>C (p.Asp658Ala) c.1814A>C (p.Asp605Ala) c.1784A>C (p.Asp595Ala) c.1199A>C (p.Asp400Ala) c.1910A>C (p.Asp637Ala) c.1136A>C (p.Asp379Ala) c.1103A>C (p.Asp368Ala) n.2137A>C c.1316A>C (p.Asp439Ala) n.2131A>C | |
| X | g.53250762_53250763del | CA2695233930 | IQSEC2 | c.1972_1973del (p.Asp658ProfsTer3) c.1813_1814del (p.Asp605ProfsTer3) c.1783_1784del (p.Asp595ProfsTer3) c.1198_1199del (p.Asp400ProfsTer3) c.1909_1910del (p.Asp637ProfsTer3) c.1135_1136del (p.Asp379ProfsTer3) c.1102_1103del (p.Asp368ProfsTer3) n.2136_2137del c.1315_1316del (p.Asp439ProfsTer3) n.2130_2131del | |
| X | g.53250762_53250763delinsTC | CA2429775636 | IQSEC2 | c.1972_1973delinsGA (p.Asp658=) c.1813_1814delinsGA (p.Asp605=) c.1783_1784delinsGA (p.Asp595=) c.1198_1199delinsGA (p.Asp400=) c.1909_1910delinsGA (p.Asp637=) c.1135_1136delinsGA (p.Asp379=) c.1102_1103delinsGA (p.Asp368=) n.2136_2137delinsGA c.1315_1316delinsGA (p.Asp439=) n.2130_2131delinsGA | |
| X | g.53250763C>A | CA413163480 | IQSEC2 | c.1972G>T (p.Asp658Tyr) c.1813G>T (p.Asp605Tyr) c.1783G>T (p.Asp595Tyr) c.1198G>T (p.Asp400Tyr) c.1909G>T (p.Asp637Tyr) c.1135G>T (p.Asp379Tyr) c.1102G>T (p.Asp368Tyr) n.2136G>T c.1315G>T (p.Asp439Tyr) n.2130G>T | |
| X | g.53250763C>G | CA413163481 | IQSEC2 | c.1972G>C (p.Asp658His) c.1813G>C (p.Asp605His) c.1783G>C (p.Asp595His) c.1198G>C (p.Asp400His) c.1909G>C (p.Asp637His) c.1135G>C (p.Asp379His) c.1102G>C (p.Asp368His) n.2136G>C c.1315G>C (p.Asp439His) n.2130G>C | |
| X | g.53250763C>T | CA413163485 | IQSEC2 | c.1972G>A (p.Asp658Asn) c.1813G>A (p.Asp605Asn) c.1783G>A (p.Asp595Asn) c.1198G>A (p.Asp400Asn) c.1909G>A (p.Asp637Asn) c.1135G>A (p.Asp379Asn) c.1102G>A (p.Asp368Asn) n.2136G>A c.1315G>A (p.Asp439Asn) n.2130G>A | |
| X | g.53250764del | CA1139667569 | IQSEC2 | c.1972del (p.Asp658ThrfsTer2) c.1813del (p.Asp605ThrfsTer2) c.1783del (p.Asp595ThrfsTer2) c.1198del (p.Asp400ThrfsTer2) c.1909del (p.Asp637ThrfsTer2) c.1135del (p.Asp379ThrfsTer2) c.1102del (p.Asp368ThrfsTer2) n.2136del c.1315del (p.Asp439ThrfsTer2) n.2130del | ClinVar dbSNP |
| X | g.53250764C>A | CA516674160 | IQSEC2 | c.1971G>T (p.Val657=) c.1812G>T (p.Val604=) c.1782G>T (p.Val594=) c.1197G>T (p.Val399=) c.1908G>T (p.Val636=) c.1134G>T (p.Val378=) c.1101G>T (p.Val367=) n.2135G>T c.1314G>T (p.Val438=) n.2129G>T | |
| X | g.53250764C>G | CA516674161 | IQSEC2 | c.1971G>C (p.Val657=) c.1812G>C (p.Val604=) c.1782G>C (p.Val594=) c.1197G>C (p.Val399=) c.1908G>C (p.Val636=) c.1134G>C (p.Val378=) c.1101G>C (p.Val367=) n.2135G>C c.1314G>C (p.Val438=) n.2129G>C | ClinVar dbSNP |
| X | g.53250764C>T | CA516674162 | IQSEC2 | c.1971G>A (p.Val657=) c.1812G>A (p.Val604=) c.1782G>A (p.Val594=) c.1197G>A (p.Val399=) c.1908G>A (p.Val636=) c.1134G>A (p.Val378=) c.1101G>A (p.Val367=) n.2135G>A c.1314G>A (p.Val438=) n.2129G>A | |
| X | g.53250765A>C | CA413163486 | IQSEC2 | c.1970T>G (p.Val657Gly) c.1811T>G (p.Val604Gly) c.1781T>G (p.Val594Gly) c.1196T>G (p.Val399Gly) c.1907T>G (p.Val636Gly) c.1133T>G (p.Val378Gly) c.1100T>G (p.Val367Gly) n.2134T>G c.1313T>G (p.Val438Gly) n.2128T>G | |
| X | g.53250765A>G | CA413163487 | IQSEC2 | c.1970T>C (p.Val657Ala) c.1811T>C (p.Val604Ala) c.1781T>C (p.Val594Ala) c.1196T>C (p.Val399Ala) c.1907T>C (p.Val636Ala) c.1133T>C (p.Val378Ala) c.1100T>C (p.Val367Ala) n.2134T>C c.1313T>C (p.Val438Ala) n.2128T>C | |
| X | g.53250765A>T | CA413163490 | IQSEC2 | c.1970T>A (p.Val657Glu) c.1811T>A (p.Val604Glu) c.1781T>A (p.Val594Glu) c.1196T>A (p.Val399Glu) c.1907T>A (p.Val636Glu) c.1133T>A (p.Val378Glu) c.1100T>A (p.Val367Glu) n.2134T>A c.1313T>A (p.Val438Glu) n.2128T>A |