Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.53405486T>C | CA1133178654 | SMC1A | c.1911+7A>G (n.1911+7A>G) c.1143+7A>G (n.1143+7A>G) n.1263+7A>G c.1845+7A>G (n.1845+7A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53405486T= | CA2429825307 | SMC1A | c.1911+7A= (n.1911+7A=) c.1143+7A= (n.1143+7A=) n.1263+7A= c.1845+7A= (n.1845+7A=) | |
X | g.53405487C>A | CA2550191799 | SMC1A | c.1911+6G>T (n.1911+6G>T) c.1143+6G>T (n.1143+6G>T) n.1263+6G>T c.1845+6G>T (n.1845+6G>T) | |
X | g.53405487C>T | CA2843207926 | SMC1A | c.1911+6G>A (n.1911+6G>A) c.1143+6G>A (n.1143+6G>A) n.1263+6G>A c.1845+6G>A (n.1845+6G>A) | |
X | g.53405490C= | CA2429825308 | SMC1A | c.1911+3G= (n.1911+3G=) c.1143+3G= (n.1143+3G=) n.1263+3G= c.1845+3G= (n.1845+3G=) | |
X | g.53405490C>T | CA641906915 | SMC1A | c.1911+3G>A (n.1911+3G>A) c.1143+3G>A (n.1143+3G>A) n.1263+3G>A c.1845+3G>A (n.1845+3G>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53405491A>C | CA413252652 | SMC1A | c.1911+2T>G (n.1911+2T>G) c.1143+2T>G (n.1143+2T>G) n.1263+2T>G c.1845+2T>G (n.1845+2T>G) | |
X | g.53405491A>G | CA413252653 | SMC1A | c.1911+2T>C (n.1911+2T>C) c.1143+2T>C (n.1143+2T>C) n.1263+2T>C c.1845+2T>C (n.1845+2T>C) | |
X | g.53405491A>T | CA413252655 | SMC1A | c.1911+2T>A (n.1911+2T>A) c.1143+2T>A (n.1143+2T>A) n.1263+2T>A c.1845+2T>A (n.1845+2T>A) | |
X | g.53405492C>A | CA413252657 | SMC1A | c.1911+1G>T (n.1911+1G>T) c.1143+1G>T (n.1143+1G>T) n.1263+1G>T c.1845+1G>T (n.1845+1G>T) | ClinVar dbSNP |
X | g.53405492C= | CA2429825309 | SMC1A | c.1911+1G= (n.1911+1G=) c.1143+1G= (n.1143+1G=) n.1263+1G= c.1845+1G= (n.1845+1G=) | |
X | g.53405492C>G | CA413252659 | SMC1A | c.1911+1G>C (n.1911+1G>C) c.1143+1G>C (n.1143+1G>C) n.1263+1G>C c.1845+1G>C (n.1845+1G>C) | |
X | g.53405492C>T | CA413252660 | SMC1A | c.1911+1G>A (n.1911+1G>A) c.1143+1G>A (n.1143+1G>A) n.1263+1G>A c.1845+1G>A (n.1845+1G>A) | |
X | g.53405493C>A | CA413252662 | SMC1A | c.1911G>T (p.Lys637Asn) c.1143G>T (p.Lys381Asn) n.1263G>T c.1845G>T (p.Lys615Asn) | |
X | g.53405493C= | CA2429825310 | SMC1A | c.1911G= (p.Lys637=) c.1143G= (p.Lys381=) n.1263G= c.1845G= (p.Lys615=) | |
X | g.53405493C>G | CA413252664 | SMC1A | c.1911G>C (p.Lys637Asn) c.1143G>C (p.Lys381Asn) n.1263G>C c.1845G>C (p.Lys615Asn) | |
X | g.53405493C>T | CA516688052 | SMC1A | c.1911G>A (p.Lys637=) c.1143G>A (p.Lys381=) n.1263G>A c.1845G>A (p.Lys615=) | ClinVar dbSNP |
X | g.53405494T>A | CA413252666 | SMC1A | c.1910A>T (p.Lys637Met) c.1142A>T (p.Lys381Met) n.1262A>T c.1844A>T (p.Lys615Met) | |
X | g.53405494T>C | CA413252668 | SMC1A | c.1910A>G (p.Lys637Arg) c.1142A>G (p.Lys381Arg) n.1262A>G c.1844A>G (p.Lys615Arg) | COSMIC |
X | g.53405494T>G | CA413252669 | SMC1A | c.1910A>C (p.Lys637Thr) c.1142A>C (p.Lys381Thr) n.1262A>C c.1844A>C (p.Lys615Thr) | |
X | g.53405495del | CA2580101196 | SMC1A | c.1910del (p.Lys637ArgfsTer15) c.1142del (p.Lys381ArgfsTer15) n.1262del c.1844del (p.Lys615ArgfsTer15) | ClinVar |
X | g.53405495T>A | CA413252671 | SMC1A | c.1909A>T (p.Lys637Ter) c.1141A>T (p.Lys381Ter) n.1261A>T c.1843A>T (p.Lys615Ter) | |
X | g.53405495T>C | CA413252672 | SMC1A | c.1909A>G (p.Lys637Glu) c.1141A>G (p.Lys381Glu) n.1261A>G c.1843A>G (p.Lys615Glu) | |
X | g.53405495T>G | CA413252674 | SMC1A | c.1909A>C (p.Lys637Gln) c.1141A>C (p.Lys381Gln) n.1261A>C c.1843A>C (p.Lys615Gln) | |
X | g.53405497_53405504del | CA2695234315 | SMC1A | c.1902_1909del (p.Arg635AspfsTer21) c.1134_1141del (p.Arg379AspfsTer21) n.1254_1261del c.1836_1843del (p.Arg613AspfsTer21) | |
X | g.53405496G>A | CA516688053 | SMC1A | c.1908C>T (p.His636=) c.1140C>T (p.His380=) n.1260C>T c.1842C>T (p.His614=) | |
X | g.53405496G>C | CA413252677 | SMC1A | c.1908C>G (p.His636Gln) c.1140C>G (p.His380Gln) n.1260C>G c.1842C>G (p.His614Gln) | |
X | g.53405496G>T | CA413252675 | SMC1A | c.1908C>A (p.His636Gln) c.1140C>A (p.His380Gln) n.1260C>A c.1842C>A (p.His614Gln) | |
X | g.53405497T>A | CA413252679 | SMC1A | c.1907A>T (p.His636Leu) c.1139A>T (p.His380Leu) n.1259A>T c.1841A>T (p.His614Leu) | |
X | g.53405497T>C | CA413252680 | SMC1A | c.1907A>G (p.His636Arg) c.1139A>G (p.His380Arg) n.1259A>G c.1841A>G (p.His614Arg) | |
X | g.53405497T>G | CA413252682 | SMC1A | c.1907A>C (p.His636Pro) c.1139A>C (p.His380Pro) n.1259A>C c.1841A>C (p.His614Pro) | |
X | g.53405498G>A | CA413252684 | SMC1A | c.1906C>T (p.His636Tyr) c.1138C>T (p.His380Tyr) n.1258C>T c.1840C>T (p.His614Tyr) | ClinVar |
X | g.53405498G>C | CA413252685 | SMC1A | c.1906C>G (p.His636Asp) c.1138C>G (p.His380Asp) n.1258C>G c.1840C>G (p.His614Asp) | |
X | g.53405498G>T | CA413252687 | SMC1A | c.1906C>A (p.His636Asn) c.1138C>A (p.His380Asn) n.1258C>A c.1840C>A (p.His614Asn) | |
X | g.53405499G>A | CA516688055 | SMC1A | c.1905C>T (p.Arg635=) c.1137C>T (p.Arg379=) n.1257C>T c.1839C>T (p.Arg613=) | gnomAD v4 |
X | g.53405499G>C | CA516688057 | SMC1A | c.1905C>G (p.Arg635=) c.1137C>G (p.Arg379=) n.1257C>G c.1839C>G (p.Arg613=) | |
X | g.53405499G>T | CA516688059 | SMC1A | c.1905C>A (p.Arg635=) c.1137C>A (p.Arg379=) n.1257C>A c.1839C>A (p.Arg613=) | |
X | g.53405500C>A | CA413252688 | SMC1A | c.1904G>T (p.Arg635Leu) c.1136G>T (p.Arg379Leu) n.1256G>T c.1838G>T (p.Arg613Leu) | |
X | g.53405500C>G | CA413252692 | SMC1A | c.1904G>C (p.Arg635Pro) c.1136G>C (p.Arg379Pro) n.1256G>C c.1838G>C (p.Arg613Pro) | |
X | g.53405500C>T | CA413252690 | SMC1A | c.1904G>A (p.Arg635His) c.1136G>A (p.Arg379His) n.1256G>A c.1838G>A (p.Arg613His) | ClinVar dbSNP COSMIC |
X | g.53405501G>A | CA413252693 | SMC1A | c.1903C>T (p.Arg635Cys) c.1135C>T (p.Arg379Cys) n.1255C>T c.1837C>T (p.Arg613Cys) | ClinVar dbSNP |
X | g.53405501G>C | CA413252695 | SMC1A | c.1903C>G (p.Arg635Gly) c.1135C>G (p.Arg379Gly) n.1255C>G c.1837C>G (p.Arg613Gly) | |
X | g.53405501G>T | CA413252696 | SMC1A | c.1903C>A (p.Arg635Ser) c.1135C>A (p.Arg379Ser) n.1255C>A c.1837C>A (p.Arg613Ser) | |
X | g.53405502C>A | CA413252698 | SMC1A | c.1902G>T (p.Gln634His) c.1134G>T (p.Gln378His) n.1254G>T c.1836G>T (p.Gln612His) | |
X | g.53405502C>G | CA413252700 | SMC1A | c.1902G>C (p.Gln634His) c.1134G>C (p.Gln378His) n.1254G>C c.1836G>C (p.Gln612His) | |
X | g.53405502C>T | CA516688062 | SMC1A | c.1902G>A (p.Gln634=) c.1134G>A (p.Gln378=) n.1254G>A c.1836G>A (p.Gln612=) | |
X | g.53405503T>A | CA413252702 | SMC1A | c.1901A>T (p.Gln634Leu) c.1133A>T (p.Gln378Leu) n.1253A>T c.1835A>T (p.Gln612Leu) | |
X | g.53405503T>C | CA413252703 | SMC1A | c.1901A>G (p.Gln634Arg) c.1133A>G (p.Gln378Arg) n.1253A>G c.1835A>G (p.Gln612Arg) | |
X | g.53405503T>G | CA413252705 | SMC1A | c.1901A>C (p.Gln634Pro) c.1133A>C (p.Gln378Pro) n.1253A>C c.1835A>C (p.Gln612Pro) | |
X | g.53405504G>A | CA413252707 | SMC1A | c.1900C>T (p.Gln634Ter) c.1132C>T (p.Gln378Ter) n.1252C>T c.1834C>T (p.Gln612Ter) | |
X | g.53405504G>C | CA413252709 | SMC1A | c.1900C>G (p.Gln634Glu) c.1132C>G (p.Gln378Glu) n.1252C>G c.1834C>G (p.Gln612Glu) | |
X | g.53405504G>T | CA413252710 | SMC1A | c.1900C>A (p.Gln634Lys) c.1132C>A (p.Gln378Lys) n.1252C>A c.1834C>A (p.Gln612Lys) | |
X | g.53405505G>A | CA516688063 | SMC1A | c.1899C>T (p.His633=) c.1131C>T (p.His377=) n.1251C>T c.1833C>T (p.His611=) | ClinVar dbSNP gnomAD v4 |
X | g.53405505G>C | CA413252712 | SMC1A | c.1899C>G (p.His633Gln) c.1131C>G (p.His377Gln) n.1251C>G c.1833C>G (p.His611Gln) | |
X | g.53405505G= | CA2429825311 | SMC1A | c.1899C= (p.His633=) c.1131C= (p.His377=) n.1251C= c.1833C= (p.His611=) | |
X | g.53405505G>T | CA413252713 | SMC1A | c.1899C>A (p.His633Gln) c.1131C>A (p.His377Gln) n.1251C>A c.1833C>A (p.His611Gln) | |
X | g.53405506T>A | CA413252715 | SMC1A | c.1898A>T (p.His633Leu) c.1130A>T (p.His377Leu) n.1250A>T c.1832A>T (p.His611Leu) | |
X | g.53405506T>C | CA413252718 | SMC1A | c.1898A>G (p.His633Arg) c.1130A>G (p.His377Arg) n.1250A>G c.1832A>G (p.His611Arg) | |
X | g.53405506T>G | CA413252717 | SMC1A | c.1898A>C (p.His633Pro) c.1130A>C (p.His377Pro) n.1250A>C c.1832A>C (p.His611Pro) | |
X | g.53405507G>A | CA413252720 | SMC1A | c.1897C>T (p.His633Tyr) c.1129C>T (p.His377Tyr) n.1249C>T c.1831C>T (p.His611Tyr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53405507G>C | CA413252724 | SMC1A | c.1897C>G (p.His633Asp) c.1129C>G (p.His377Asp) n.1249C>G c.1831C>G (p.His611Asp) | |
X | g.53405507G= | CA2429825312 | SMC1A | c.1897C= (p.His633=) c.1129C= (p.His377=) n.1249C= c.1831C= (p.His611=) | |
X | g.53405507G>T | CA413252722 | SMC1A | c.1897C>A (p.His633Asn) c.1129C>A (p.His377Asn) n.1249C>A c.1831C>A (p.His611Asn) | |
X | g.53405510_53405531del | CA2573055365 | SMC1A | c.1876_1897del (p.Arg626ThrfsTer19) c.1108_1129del (p.Arg370ThrfsTer19) n.1228_1249del c.1810_1831del (p.Arg604ThrfsTer19) | ClinVar dbSNP |
X | g.53405508G>A | CA516688065 | SMC1A | c.1896C>T (p.Gly632=) c.1128C>T (p.Gly376=) n.1248C>T c.1830C>T (p.Gly610=) | |
X | g.53405508G>C | CA516688066 | SMC1A | c.1896C>G (p.Gly632=) c.1128C>G (p.Gly376=) n.1248C>G c.1830C>G (p.Gly610=) | dbSNP |
X | g.53405508G>T | CA516688068 | SMC1A | c.1896C>A (p.Gly632=) c.1128C>A (p.Gly376=) n.1248C>A c.1830C>A (p.Gly610=) | |
X | g.53405509C>A | CA413252725 | SMC1A | c.1895G>T (p.Gly632Val) c.1127G>T (p.Gly376Val) n.1247G>T c.1829G>T (p.Gly610Val) | |
X | g.53405509C>G | CA413252726 | SMC1A | c.1895G>C (p.Gly632Ala) c.1127G>C (p.Gly376Ala) n.1247G>C c.1829G>C (p.Gly610Ala) | |
X | g.53405509C>T | CA413252728 | SMC1A | c.1895G>A (p.Gly632Asp) c.1127G>A (p.Gly376Asp) n.1247G>A c.1829G>A (p.Gly610Asp) | |
X | g.53405510C>A | CA413252730 | SMC1A | c.1894G>T (p.Gly632Cys) c.1126G>T (p.Gly376Cys) n.1246G>T c.1828G>T (p.Gly610Cys) | |
X | g.53405510C>G | CA413252731 | SMC1A | c.1894G>C (p.Gly632Arg) c.1126G>C (p.Gly376Arg) n.1246G>C c.1828G>C (p.Gly610Arg) | |
X | g.53405510C>T | CA413252732 | SMC1A | c.1894G>A (p.Gly632Ser) c.1126G>A (p.Gly376Ser) n.1246G>A c.1828G>A (p.Gly610Ser) | |
X | g.53405511T>A | CA516688072 | SMC1A | c.1893A>T (p.Gly631=) c.1125A>T (p.Gly375=) n.1245A>T c.1827A>T (p.Gly609=) | |
X | g.53405511T>C | CA516688073 | SMC1A | c.1893A>G (p.Gly631=) c.1125A>G (p.Gly375=) n.1245A>G c.1827A>G (p.Gly609=) | |
X | g.53405511T>G | CA516688071 | SMC1A | c.1893A>C (p.Gly631=) c.1125A>C (p.Gly375=) n.1245A>C c.1827A>C (p.Gly609=) | |
X | g.53405512C>A | CA413252733 | SMC1A | c.1892G>T (p.Gly631Val) c.1124G>T (p.Gly375Val) n.1244G>T c.1826G>T (p.Gly609Val) | |
X | g.53405512C>G | CA413252735 | SMC1A | c.1892G>C (p.Gly631Ala) c.1124G>C (p.Gly375Ala) n.1244G>C c.1826G>C (p.Gly609Ala) | |
X | g.53405512C>T | CA413252737 | SMC1A | c.1892G>A (p.Gly631Glu) c.1124G>A (p.Gly375Glu) n.1244G>A c.1826G>A (p.Gly609Glu) | |
X | g.53405513C>A | CA413252738 | SMC1A | c.1891G>T (p.Gly631Ter) c.1123G>T (p.Gly375Ter) n.1243G>T c.1825G>T (p.Gly609Ter) | |
X | g.53405513C>G | CA413252740 | SMC1A | c.1891G>C (p.Gly631Arg) c.1123G>C (p.Gly375Arg) n.1243G>C c.1825G>C (p.Gly609Arg) | |
X | g.53405513C>T | CA413252741 | SMC1A | c.1891G>A (p.Gly631Arg) c.1123G>A (p.Gly375Arg) n.1243G>A c.1825G>A (p.Gly609Arg) | |
X | g.53405514A>C | CA413252744 | SMC1A | c.1890T>G (p.Phe630Leu) c.1122T>G (p.Phe374Leu) n.1242T>G c.1824T>G (p.Phe608Leu) | |
X | g.53405514A>G | CA516688076 | SMC1A | c.1890T>C (p.Phe630=) c.1122T>C (p.Phe374=) n.1242T>C c.1824T>C (p.Phe608=) | |
X | g.53405514A>T | CA413252743 | SMC1A | c.1890T>A (p.Phe630Leu) c.1122T>A (p.Phe374Leu) n.1242T>A c.1824T>A (p.Phe608Leu) | |
X | g.53405515A>C | CA413252746 | SMC1A | c.1889T>G (p.Phe630Cys) c.1121T>G (p.Phe374Cys) n.1241T>G c.1823T>G (p.Phe608Cys) | |
X | g.53405515A>G | CA413252748 | SMC1A | c.1889T>C (p.Phe630Ser) c.1121T>C (p.Phe374Ser) n.1241T>C c.1823T>C (p.Phe608Ser) | |
X | g.53405515A>T | CA413252749 | SMC1A | c.1889T>A (p.Phe630Tyr) c.1121T>A (p.Phe374Tyr) n.1241T>A c.1823T>A (p.Phe608Tyr) | |
X | g.53405516A>C | CA413252752 | SMC1A | c.1888T>G (p.Phe630Val) c.1120T>G (p.Phe374Val) n.1240T>G c.1822T>G (p.Phe608Val) | |
X | g.53405516A>G | CA413252753 | SMC1A | c.1888T>C (p.Phe630Leu) c.1120T>C (p.Phe374Leu) n.1240T>C c.1822T>C (p.Phe608Leu) | |
X | g.53405516A>T | CA413252755 | SMC1A | c.1888T>A (p.Phe630Ile) c.1120T>A (p.Phe374Ile) n.1240T>A c.1822T>A (p.Phe608Ile) | |
X | g.53405517G>A | CA516688080 | SMC1A | c.1887C>T (p.Ala629=) c.1119C>T (p.Ala373=) n.1239C>T c.1821C>T (p.Ala607=) | |
X | g.53405517G>C | CA516688082 | SMC1A | c.1887C>G (p.Ala629=) c.1119C>G (p.Ala373=) n.1239C>G c.1821C>G (p.Ala607=) | |
X | g.53405517G>T | CA516688081 | SMC1A | c.1887C>A (p.Ala629=) c.1119C>A (p.Ala373=) n.1239C>A c.1821C>A (p.Ala607=) | |
X | g.53405518G>A | CA413252756 | SMC1A | c.1886C>T (p.Ala629Val) c.1118C>T (p.Ala373Val) n.1238C>T c.1820C>T (p.Ala607Val) | |
X | g.53405518G>C | CA413252758 | SMC1A | c.1886C>G (p.Ala629Gly) c.1118C>G (p.Ala373Gly) n.1238C>G c.1820C>G (p.Ala607Gly) | |
X | g.53405518G>T | CA413252760 | SMC1A | c.1886C>A (p.Ala629Asp) c.1118C>A (p.Ala373Asp) n.1238C>A c.1820C>A (p.Ala607Asp) | |
X | g.53405518_53405519insT | CA645615990 | SMC1A | c.1885_1886insA (p.Ala629AspfsTer30) c.1117_1118insA (p.Ala373AspfsTer30) n.1237_1238insA c.1819_1820insA (p.Ala607AspfsTer30) | COSMIC |
X | g.53405519C>A | CA413252761 | SMC1A | c.1885G>T (p.Ala629Ser) c.1117G>T (p.Ala373Ser) n.1237G>T c.1819G>T (p.Ala607Ser) | |
X | g.53405519C>G | CA413252763 | SMC1A | c.1885G>C (p.Ala629Pro) c.1117G>C (p.Ala373Pro) n.1237G>C c.1819G>C (p.Ala607Pro) | |
X | g.53405519C>T | CA413252765 | SMC1A | c.1885G>A (p.Ala629Thr) c.1117G>A (p.Ala373Thr) n.1237G>A c.1819G>A (p.Ala607Thr) | |
X | g.53405520A>C | CA413252767 | SMC1A | c.1884T>G (p.Ile628Met) c.1116T>G (p.Ile372Met) n.1236T>G c.1818T>G (p.Ile606Met) | |
X | g.53405520A>G | CA516688086 | SMC1A | c.1884T>C (p.Ile628=) c.1116T>C (p.Ile372=) n.1236T>C c.1818T>C (p.Ile606=) | |
X | g.53405520A>T | CA516688087 | SMC1A | c.1884T>A (p.Ile628=) c.1116T>A (p.Ile372=) n.1236T>A c.1818T>A (p.Ile606=) | |
X | g.53405521A>C | CA413252772 | SMC1A | c.1883T>G (p.Ile628Ser) c.1115T>G (p.Ile372Ser) n.1235T>G c.1817T>G (p.Ile606Ser) | |
X | g.53405521A>G | CA413252770 | SMC1A | c.1883T>C (p.Ile628Thr) c.1115T>C (p.Ile372Thr) n.1235T>C c.1817T>C (p.Ile606Thr) | |
X | g.53405521A>T | CA413252769 | SMC1A | c.1883T>A (p.Ile628Asn) c.1115T>A (p.Ile372Asn) n.1235T>A c.1817T>A (p.Ile606Asn) | |
X | g.53405522T>A | CA413252776 | SMC1A | c.1882A>T (p.Ile628Phe) c.1114A>T (p.Ile372Phe) n.1234A>T c.1816A>T (p.Ile606Phe) | |
X | g.53405522T>C | CA413252774 | SMC1A | c.1882A>G (p.Ile628Val) c.1114A>G (p.Ile372Val) n.1234A>G c.1816A>G (p.Ile606Val) | |
X | g.53405522T>G | CA413252777 | SMC1A | c.1882A>C (p.Ile628Leu) c.1114A>C (p.Ile372Leu) n.1234A>C c.1816A>C (p.Ile606Leu) | |
X | g.53405523G>A | CA516688091 | SMC1A | c.1881C>T (p.Arg627=) c.1113C>T (p.Arg371=) n.1233C>T c.1815C>T (p.Arg605=) | COSMIC |
X | g.53405523G>C | CA516688092 | SMC1A | c.1881C>G (p.Arg627=) c.1113C>G (p.Arg371=) n.1233C>G c.1815C>G (p.Arg605=) | |
X | g.53405523G>T | CA516688093 | SMC1A | c.1881C>A (p.Arg627=) c.1113C>A (p.Arg371=) n.1233C>A c.1815C>A (p.Arg605=) | |
X | g.53405524C>A | CA413252780 | SMC1A | c.1880G>T (p.Arg627Leu) c.1112G>T (p.Arg371Leu) n.1232G>T c.1814G>T (p.Arg605Leu) | |
X | g.53405524C= | CA2429825313 | SMC1A | c.1880G= (p.Arg627=) c.1112G= (p.Arg371=) n.1232G= c.1814G= (p.Arg605=) | |
X | g.53405524C>G | CA413252781 | SMC1A | c.1880G>C (p.Arg627Pro) c.1112G>C (p.Arg371Pro) n.1232G>C c.1814G>C (p.Arg605Pro) | |
X | g.53405524C>T | CA10420513 | SMC1A | c.1880G>A (p.Arg627His) c.1112G>A (p.Arg371His) n.1232G>A c.1814G>A (p.Arg605His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.53405525G>A | CA413252783 | SMC1A | c.1879C>T (p.Arg627Cys) c.1111C>T (p.Arg371Cys) n.1231C>T c.1813C>T (p.Arg605Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53405525G>C | CA413252784 | SMC1A | c.1879C>G (p.Arg627Gly) c.1111C>G (p.Arg371Gly) n.1231C>G c.1813C>G (p.Arg605Gly) | |
X | g.53405525G= | CA2429825314 | SMC1A | c.1879C= (p.Arg627=) c.1111C= (p.Arg371=) n.1231C= c.1813C= (p.Arg605=) | |
X | g.53405525G>T | CA413252786 | SMC1A | c.1879C>A (p.Arg627Ser) c.1111C>A (p.Arg371Ser) n.1231C>A c.1813C>A (p.Arg605Ser) | ClinVar dbSNP |
X | g.53405526G>A | CA516688096 | SMC1A | c.1878C>T (p.Arg626=) c.1110C>T (p.Arg370=) n.1230C>T c.1812C>T (p.Arg604=) | |
X | g.53405526G>C | CA516688097 | SMC1A | c.1878C>G (p.Arg626=) c.1110C>G (p.Arg370=) n.1230C>G c.1812C>G (p.Arg604=) | |
X | g.53405526G>T | CA516688098 | SMC1A | c.1878C>A (p.Arg626=) c.1110C>A (p.Arg370=) n.1230C>A c.1812C>A (p.Arg604=) | |
X | g.53405527C>A | CA413252788 | SMC1A | c.1877G>T (p.Arg626Leu) c.1109G>T (p.Arg370Leu) n.1229G>T c.1811G>T (p.Arg604Leu) | |
X | g.53405527C= | CA2429825315 | SMC1A | c.1877G= (p.Arg626=) c.1109G= (p.Arg370=) n.1229G= c.1811G= (p.Arg604=) | |
X | g.53405527C>G | CA413252790 | SMC1A | c.1877G>C (p.Arg626Pro) c.1109G>C (p.Arg370Pro) n.1229G>C c.1811G>C (p.Arg604Pro) | |
X | g.53405527C>T | CA272526 | SMC1A | c.1877G>A (p.Arg626His) c.1109G>A (p.Arg370His) n.1229G>A c.1811G>A (p.Arg604His) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.53405528G>A | CA413252792 | SMC1A | c.1876C>T (p.Arg626Cys) c.1108C>T (p.Arg370Cys) n.1228C>T c.1810C>T (p.Arg604Cys) | ClinVar dbSNP gnomAD v4 |
X | g.53405528G>C | CA413252794 | SMC1A | c.1876C>G (p.Arg626Gly) c.1108C>G (p.Arg370Gly) n.1228C>G c.1810C>G (p.Arg604Gly) | |
X | g.53405528G= | CA2429825316 | SMC1A | c.1876C= (p.Arg626=) c.1108C= (p.Arg370=) n.1228C= c.1810C= (p.Arg604=) | |
X | g.53405528G>T | CA413252796 | SMC1A | c.1876C>A (p.Arg626Ser) c.1108C>A (p.Arg370Ser) n.1228C>A c.1810C>A (p.Arg604Ser) | |
X | g.53405529G>A | CA516688100 | SMC1A | c.1875C>T (p.Ala625=) c.1107C>T (p.Ala369=) n.1227C>T c.1809C>T (p.Ala603=) | |
X | g.53405529G>C | CA516688101 | SMC1A | c.1875C>G (p.Ala625=) c.1107C>G (p.Ala369=) n.1227C>G c.1809C>G (p.Ala603=) | |
X | g.53405529G= | CA2429825317 | SMC1A | c.1875C= (p.Ala625=) c.1107C= (p.Ala369=) n.1227C= c.1809C= (p.Ala603=) | |
X | g.53405529G>T | CA516688103 | SMC1A | c.1875C>A (p.Ala625=) c.1107C>A (p.Ala369=) n.1227C>A c.1809C>A (p.Ala603=) | dbSNP |
X | g.53405530G>A | CA10420514 | SMC1A | c.1874C>T (p.Ala625Val) c.1106C>T (p.Ala369Val) n.1226C>T c.1808C>T (p.Ala603Val) | dbSNP ExAC |
X | g.53405530G>C | CA413252799 | SMC1A | c.1874C>G (p.Ala625Gly) c.1106C>G (p.Ala369Gly) n.1226C>G c.1808C>G (p.Ala603Gly) | |
X | g.53405530G= | CA2429825318 | SMC1A | c.1874C= (p.Ala625=) c.1106C= (p.Ala369=) n.1226C= c.1808C= (p.Ala603=) | |
X | g.53405530G>T | CA413252798 | SMC1A | c.1874C>A (p.Ala625Asp) c.1106C>A (p.Ala369Asp) n.1226C>A c.1808C>A (p.Ala603Asp) | |
X | g.53405531C>A | CA413252802 | SMC1A | c.1873G>T (p.Ala625Ser) c.1105G>T (p.Ala369Ser) n.1225G>T c.1807G>T (p.Ala603Ser) | |
X | g.53405531C>G | CA413252803 | SMC1A | c.1873G>C (p.Ala625Pro) c.1105G>C (p.Ala369Pro) n.1225G>C c.1807G>C (p.Ala603Pro) | |
X | g.53405531C>T | CA413252804 | SMC1A | c.1873G>A (p.Ala625Thr) c.1105G>A (p.Ala369Thr) n.1225G>A c.1807G>A (p.Ala603Thr) | |
X | g.53405532A= | CA2429825319 | SMC1A | c.1872T= (p.Asp624=) c.1104T= (p.Asp368=) n.1224T= c.1806T= (p.Asp602=) | |
X | g.53405532A>C | CA413252806 | SMC1A | c.1872T>G (p.Asp624Glu) c.1104T>G (p.Asp368Glu) n.1224T>G c.1806T>G (p.Asp602Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.53405532A>G | CA516688107 | SMC1A | c.1872T>C (p.Asp624=) c.1104T>C (p.Asp368=) n.1224T>C c.1806T>C (p.Asp602=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.53405532A>T | CA413252808 | SMC1A | c.1872T>A (p.Asp624Glu) c.1104T>A (p.Asp368Glu) n.1224T>A c.1806T>A (p.Asp602Glu) | |
X | g.53405533T>A | CA413252809 | SMC1A | c.1871A>T (p.Asp624Val) c.1103A>T (p.Asp368Val) n.1223A>T c.1805A>T (p.Asp602Val) | |
X | g.53405533T>C | CA413252810 | SMC1A | c.1871A>G (p.Asp624Gly) c.1103A>G (p.Asp368Gly) n.1223A>G c.1805A>G (p.Asp602Gly) | |
X | g.53405533T>G | CA413252811 | SMC1A | c.1871A>C (p.Asp624Ala) c.1103A>C (p.Asp368Ala) n.1223A>C c.1805A>C (p.Asp602Ala) | |
X | g.53405534C>A | CA413252813 | SMC1A | c.1870G>T (p.Asp624Tyr) c.1102G>T (p.Asp368Tyr) n.1222G>T c.1804G>T (p.Asp602Tyr) | |
X | g.53405534C>G | CA413252814 | SMC1A | c.1870G>C (p.Asp624His) c.1102G>C (p.Asp368His) n.1222G>C c.1804G>C (p.Asp602His) | |
X | g.53405534C>T | CA413252815 | SMC1A | c.1870G>A (p.Asp624Asn) c.1102G>A (p.Asp368Asn) n.1222G>A c.1804G>A (p.Asp602Asn) | |
X | g.53405535T>A | CA413252817 | SMC1A | c.1869A>T (p.Glu623Asp) c.1101A>T (p.Glu367Asp) n.1221A>T c.1803A>T (p.Glu601Asp) | |
X | g.53405535T>C | CA516688111 | SMC1A | c.1869A>G (p.Glu623=) c.1101A>G (p.Glu367=) n.1221A>G c.1803A>G (p.Glu601=) | |
X | g.53405535T>G | CA413252819 | SMC1A | c.1869A>C (p.Glu623Asp) c.1101A>C (p.Glu367Asp) n.1221A>C c.1803A>C (p.Glu601Asp) | |
X | g.53405536T>A | CA413252822 | SMC1A | c.1868A>T (p.Glu623Val) c.1100A>T (p.Glu367Val) n.1220A>T c.1802A>T (p.Glu601Val) | |
X | g.53405536T>C | CA413252824 | SMC1A | c.1868A>G (p.Glu623Gly) c.1100A>G (p.Glu367Gly) n.1220A>G c.1802A>G (p.Glu601Gly) | |
X | g.53405536T>G | CA413252821 | SMC1A | c.1868A>C (p.Glu623Ala) c.1100A>C (p.Glu367Ala) n.1220A>C c.1802A>C (p.Glu601Ala) | |
X | g.53405537C>A | CA413252826 | SMC1A | c.1867G>T (p.Glu623Ter) c.1099G>T (p.Glu367Ter) n.1219G>T c.1801G>T (p.Glu601Ter) | |
X | g.53405537C>G | CA413252829 | SMC1A | c.1867G>C (p.Glu623Gln) c.1099G>C (p.Glu367Gln) n.1219G>C c.1801G>C (p.Glu601Gln) | |
X | g.53405537C>T | CA413252828 | SMC1A | c.1867G>A (p.Glu623Lys) c.1099G>A (p.Glu367Lys) n.1219G>A c.1801G>A (p.Glu601Lys) | |
X | g.53405537_53405538del | CA2843207927 | SMC1A | c.1866_1867del (p.Glu623ArgfsTer?) c.1098_1099del (p.Glu367ArgfsTer?) n.1218_1219del c.1800_1801del (p.Glu601ArgfsTer?) | |
X | g.53405538C>A | CA516688114 | SMC1A | c.1866G>T (p.Val622=) c.1098G>T (p.Val366=) n.1218G>T c.1800G>T (p.Val600=) | |
X | g.53405538C>G | CA516688116 | SMC1A | c.1866G>C (p.Val622=) c.1098G>C (p.Val366=) n.1218G>C c.1800G>C (p.Val600=) | |
X | g.53405538C>T | CA516688117 | SMC1A | c.1866G>A (p.Val622=) c.1098G>A (p.Val366=) n.1218G>A c.1800G>A (p.Val600=) | |
X | g.53405539A>C | CA413252831 | SMC1A | c.1865T>G (p.Val622Gly) c.1097T>G (p.Val366Gly) n.1217T>G c.1799T>G (p.Val600Gly) | |
X | g.53405539A>G | CA413252833 | SMC1A | c.1865T>C (p.Val622Ala) c.1097T>C (p.Val366Ala) n.1217T>C c.1799T>C (p.Val600Ala) | |
X | g.53405539A>T | CA413252834 | SMC1A | c.1865T>A (p.Val622Glu) c.1097T>A (p.Val366Glu) n.1217T>A c.1799T>A (p.Val600Glu) | |
X | g.53405540C>A | CA413252839 | SMC1A | c.1864G>T (p.Val622Leu) c.1096G>T (p.Val366Leu) n.1216G>T c.1798G>T (p.Val600Leu) | |
X | g.53405540C>G | CA413252841 | SMC1A | c.1864G>C (p.Val622Leu) c.1096G>C (p.Val366Leu) n.1216G>C c.1798G>C (p.Val600Leu) | |
X | g.53405540C>T | CA413252844 | SMC1A | c.1864G>A (p.Val622Met) c.1096G>A (p.Val366Met) n.1216G>A c.1798G>A (p.Val600Met) | COSMIC |
X | g.53405541G>A | CA10420515 | SMC1A | c.1863C>T (p.Asn621=) c.1095C>T (p.Asn365=) n.1215C>T c.1797C>T (p.Asn599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405541G>C | CA413252848 | SMC1A | c.1863C>G (p.Asn621Lys) c.1095C>G (p.Asn365Lys) n.1215C>G c.1797C>G (p.Asn599Lys) | |
X | g.53405541G= | CA2429825320 | SMC1A | c.1863C= (p.Asn621=) c.1095C= (p.Asn365=) n.1215C= c.1797C= (p.Asn599=) | |
X | g.53405541G>T | CA413252849 | SMC1A | c.1863C>A (p.Asn621Lys) c.1095C>A (p.Asn365Lys) n.1215C>A c.1797C>A (p.Asn599Lys) | |
X | g.53405542T>A | CA413252851 | SMC1A | c.1862A>T (p.Asn621Ile) c.1094A>T (p.Asn365Ile) n.1214A>T c.1796A>T (p.Asn599Ile) | |
X | g.53405542T>C | CA413252852 | SMC1A | c.1862A>G (p.Asn621Ser) c.1094A>G (p.Asn365Ser) n.1214A>G c.1796A>G (p.Asn599Ser) | ClinVar dbSNP gnomAD v4 |
X | g.53405542T>G | CA413252854 | SMC1A | c.1862A>C (p.Asn621Thr) c.1094A>C (p.Asn365Thr) n.1214A>C c.1796A>C (p.Asn599Thr) | |
X | g.53405543T>A | CA413252856 | SMC1A | c.1861A>T (p.Asn621Tyr) c.1093A>T (p.Asn365Tyr) n.1213A>T c.1795A>T (p.Asn599Tyr) | |
X | g.53405543T>C | CA413252859 | SMC1A | c.1861A>G (p.Asn621Asp) c.1093A>G (p.Asn365Asp) n.1213A>G c.1795A>G (p.Asn599Asp) | |
X | g.53405543T>G | CA413252857 | SMC1A | c.1861A>C (p.Asn621His) c.1093A>C (p.Asn365His) n.1213A>C c.1795A>C (p.Asn599His) | |
X | g.53405544G>A | CA516688124 | SMC1A | c.1860C>T (p.Asp620=) c.1092C>T (p.Asp364=) n.1212C>T c.1794C>T (p.Asp598=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.53405544G>C | CA413252861 | SMC1A | c.1860C>G (p.Asp620Glu) c.1092C>G (p.Asp364Glu) n.1212C>G c.1794C>G (p.Asp598Glu) | |
X | g.53405544G= | CA2429825321 | SMC1A | c.1860C= (p.Asp620=) c.1092C= (p.Asp364=) n.1212C= c.1794C= (p.Asp598=) | |
X | g.53405544G>T | CA413252863 | SMC1A | c.1860C>A (p.Asp620Glu) c.1092C>A (p.Asp364Glu) n.1212C>A c.1794C>A (p.Asp598Glu) | |
X | g.53405545T>A | CA413252865 | SMC1A | c.1859A>T (p.Asp620Val) c.1091A>T (p.Asp364Val) n.1211A>T c.1793A>T (p.Asp598Val) | |
X | g.53405545T>C | CA413252867 | SMC1A | c.1859A>G (p.Asp620Gly) c.1091A>G (p.Asp364Gly) n.1211A>G c.1793A>G (p.Asp598Gly) | |
X | g.53405545T>G | CA413252868 | SMC1A | c.1859A>C (p.Asp620Ala) c.1091A>C (p.Asp364Ala) n.1211A>C c.1793A>C (p.Asp598Ala) | |
X | g.53405546C>A | CA413252870 | SMC1A | c.1858G>T (p.Asp620Tyr) c.1090G>T (p.Asp364Tyr) n.1210G>T c.1792G>T (p.Asp598Tyr) | |
X | g.53405546C>G | CA413252872 | SMC1A | c.1858G>C (p.Asp620His) c.1090G>C (p.Asp364His) n.1210G>C c.1792G>C (p.Asp598His) | |
X | g.53405546C>T | CA413252874 | SMC1A | c.1858G>A (p.Asp620Asn) c.1090G>A (p.Asp364Asn) n.1210G>A c.1792G>A (p.Asp598Asn) | |
X | g.53405547A>C | CA413252875 | SMC1A | c.1857T>G (p.Cys619Trp) c.1089T>G (p.Cys363Trp) n.1209T>G c.1791T>G (p.Cys597Trp) | |
X | g.53405547A>G | CA516688131 | SMC1A | c.1857T>C (p.Cys619=) c.1089T>C (p.Cys363=) n.1209T>C c.1791T>C (p.Cys597=) | |
X | g.53405547A>T | CA413252876 | SMC1A | c.1857T>A (p.Cys619Ter) c.1089T>A (p.Cys363Ter) n.1209T>A c.1791T>A (p.Cys597Ter) | |
X | g.53405548C>A | CA413252880 | SMC1A | c.1856G>T (p.Cys619Phe) c.1088G>T (p.Cys363Phe) n.1208G>T c.1790G>T (p.Cys597Phe) | |
X | g.53405548C>G | CA413252882 | SMC1A | c.1856G>C (p.Cys619Ser) c.1088G>C (p.Cys363Ser) n.1208G>C c.1790G>C (p.Cys597Ser) | |
X | g.53405548C>T | CA413252878 | SMC1A | c.1856G>A (p.Cys619Tyr) c.1088G>A (p.Cys363Tyr) n.1208G>A c.1790G>A (p.Cys597Tyr) | |
X | g.53405548dup | CA2839268415 | SMC1A | c.1856dup (p.Cys619TrpfsTer2) c.1088dup (p.Cys363TrpfsTer2) n.1208dup c.1790dup (p.Cys597TrpfsTer2) | |
X | g.53405549A>C | CA413252883 | SMC1A | c.1855T>G (p.Cys619Gly) c.1087T>G (p.Cys363Gly) n.1207T>G c.1789T>G (p.Cys597Gly) | |
X | g.53405549A>G | CA413252885 | SMC1A | c.1855T>C (p.Cys619Arg) c.1087T>C (p.Cys363Arg) n.1207T>C c.1789T>C (p.Cys597Arg) | |
X | g.53405549A>T | CA413252887 | SMC1A | c.1855T>A (p.Cys619Ser) c.1087T>A (p.Cys363Ser) n.1207T>A c.1789T>A (p.Cys597Ser) | |
X | g.53405550G>A | CA516688136 | SMC1A | c.1854C>T (p.Val618=) c.1086C>T (p.Val362=) n.1206C>T c.1788C>T (p.Val596=) | |
X | g.53405550G>C | CA516688135 | SMC1A | c.1854C>G (p.Val618=) c.1086C>G (p.Val362=) n.1206C>G c.1788C>G (p.Val596=) | |
X | g.53405550G>T | CA516688134 | SMC1A | c.1854C>A (p.Val618=) c.1086C>A (p.Val362=) n.1206C>A c.1788C>A (p.Val596=) | |
X | g.53405551A>C | CA413252889 | SMC1A | c.1853T>G (p.Val618Gly) c.1085T>G (p.Val362Gly) n.1205T>G c.1787T>G (p.Val596Gly) | |
X | g.53405551A>G | CA413252891 | SMC1A | c.1853T>C (p.Val618Ala) c.1085T>C (p.Val362Ala) n.1205T>C c.1787T>C (p.Val596Ala) | |
X | g.53405551A>T | CA413252893 | SMC1A | c.1853T>A (p.Val618Asp) c.1085T>A (p.Val362Asp) n.1205T>A c.1787T>A (p.Val596Asp) | |
X | g.53405551dup | CA2843207928 | SMC1A | c.1853dup (p.Cys619LeufsTer2) c.1085dup (p.Cys363LeufsTer2) n.1205dup c.1787dup (p.Cys597LeufsTer2) | |
X | g.53405552C>A | CA413252894 | SMC1A | c.1852G>T (p.Val618Phe) c.1084G>T (p.Val362Phe) n.1204G>T c.1786G>T (p.Val596Phe) | |
X | g.53405552C>G | CA413252896 | SMC1A | c.1852G>C (p.Val618Leu) c.1084G>C (p.Val362Leu) n.1204G>C c.1786G>C (p.Val596Leu) | |
X | g.53405552C>T | CA413252897 | SMC1A | c.1852G>A (p.Val618Ile) c.1084G>A (p.Val362Ile) n.1204G>A c.1786G>A (p.Val596Ile) | |
X | g.53405553A>C | CA516688138 | SMC1A | c.1851T>G (p.Leu617=) c.1083T>G (p.Leu361=) n.1203T>G c.1785T>G (p.Leu595=) | |
X | g.53405553A>G | CA516688139 | SMC1A | c.1851T>C (p.Leu617=) c.1083T>C (p.Leu361=) n.1203T>C c.1785T>C (p.Leu595=) | |
X | g.53405553A>T | CA516688140 | SMC1A | c.1851T>A (p.Leu617=) c.1083T>A (p.Leu361=) n.1203T>A c.1785T>A (p.Leu595=) | |
X | g.53405554A>C | CA413252898 | SMC1A | c.1850T>G (p.Leu617Arg) c.1082T>G (p.Leu361Arg) n.1202T>G c.1784T>G (p.Leu595Arg) | |
X | g.53405554A>G | CA413252900 | SMC1A | c.1850T>C (p.Leu617Pro) c.1082T>C (p.Leu361Pro) n.1202T>C c.1784T>C (p.Leu595Pro) | |
X | g.53405554A>T | CA413252902 | SMC1A | c.1850T>A (p.Leu617His) c.1082T>A (p.Leu361His) n.1202T>A c.1784T>A (p.Leu595His) | |
X | g.53405555G>A | CA413252907 | SMC1A | c.1849C>T (p.Leu617Phe) c.1081C>T (p.Leu361Phe) n.1201C>T c.1783C>T (p.Leu595Phe) | |
X | g.53405555G>C | CA413252909 | SMC1A | c.1849C>G (p.Leu617Val) c.1081C>G (p.Leu361Val) n.1201C>G c.1783C>G (p.Leu595Val) | gnomAD v4 |
X | g.53405555G>T | CA413252904 | SMC1A | c.1849C>A (p.Leu617Ile) c.1081C>A (p.Leu361Ile) n.1201C>A c.1783C>A (p.Leu595Ile) | |
X | g.53405556G>A | CA516688144 | SMC1A | c.1848C>T (p.Ala616=) c.1080C>T (p.Ala360=) n.1200C>T c.1782C>T (p.Ala594=) | |
X | g.53405556G>C | CA516688147 | SMC1A | c.1848C>G (p.Ala616=) c.1080C>G (p.Ala360=) n.1200C>G c.1782C>G (p.Ala594=) | |
X | g.53405556G>T | CA516688146 | SMC1A | c.1848C>A (p.Ala616=) c.1080C>A (p.Ala360=) n.1200C>A c.1782C>A (p.Ala594=) | |
X | g.53405557G>A | CA413252910 | SMC1A | c.1847C>T (p.Ala616Val) c.1079C>T (p.Ala360Val) n.1199C>T c.1781C>T (p.Ala594Val) | ClinVar dbSNP |
X | g.53405557G>C | CA10420516 | SMC1A | c.1847C>G (p.Ala616Gly) c.1079C>G (p.Ala360Gly) n.1199C>G c.1781C>G (p.Ala594Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.53405557G= | CA2429825322 | SMC1A | c.1847C= (p.Ala616=) c.1079C= (p.Ala360=) n.1199C= c.1781C= (p.Ala594=) | |
X | g.53405557G>T | CA413252912 | SMC1A | c.1847C>A (p.Ala616Asp) c.1079C>A (p.Ala360Asp) n.1199C>A c.1781C>A (p.Ala594Asp) | |
X | g.53405558C>A | CA413252913 | SMC1A | c.1846G>T (p.Ala616Ser) c.1078G>T (p.Ala360Ser) n.1198G>T c.1780G>T (p.Ala594Ser) | |
X | g.53405558C>G | CA413252914 | SMC1A | c.1846G>C (p.Ala616Pro) c.1078G>C (p.Ala360Pro) n.1198G>C c.1780G>C (p.Ala594Pro) | |
X | g.53405558C>T | CA413252916 | SMC1A | c.1846G>A (p.Ala616Thr) c.1078G>A (p.Ala360Thr) n.1198G>A c.1780G>A (p.Ala594Thr) | |
X | g.53405559A>C | CA413252920 | SMC1A | c.1845T>G (p.Asn615Lys) c.1077T>G (p.Asn359Lys) n.1197T>G c.1779T>G (p.Asn593Lys) | |
X | g.53405559A>G | CA516688150 | SMC1A | c.1845T>C (p.Asn615=) c.1077T>C (p.Asn359=) n.1197T>C c.1779T>C (p.Asn593=) | gnomAD v4 |
X | g.53405559A>T | CA413252918 | SMC1A | c.1845T>A (p.Asn615Lys) c.1077T>A (p.Asn359Lys) n.1197T>A c.1779T>A (p.Asn593Lys) | |
X | g.53405560T>A | CA413252922 | SMC1A | c.1844A>T (p.Asn615Ile) c.1076A>T (p.Asn359Ile) n.1196A>T c.1778A>T (p.Asn593Ile) | |
X | g.53405560T>C | CA413252924 | SMC1A | c.1844A>G (p.Asn615Ser) c.1076A>G (p.Asn359Ser) n.1196A>G c.1778A>G (p.Asn593Ser) | ClinVar dbSNP |
X | g.53405560T>G | CA413252925 | SMC1A | c.1844A>C (p.Asn615Thr) c.1076A>C (p.Asn359Thr) n.1196A>C c.1778A>C (p.Asn593Thr) | |
X | g.53405561dup | CA2843207929 | SMC1A | c.1844dup (p.Asn615LysfsTer6) c.1076dup (p.Asn359LysfsTer6) n.1196dup c.1778dup (p.Asn593LysfsTer6) | |
X | g.53405561T>A | CA413252927 | SMC1A | c.1843A>T (p.Asn615Tyr) c.1075A>T (p.Asn359Tyr) n.1195A>T c.1777A>T (p.Asn593Tyr) | |
X | g.53405561T>C | CA413252928 | SMC1A | c.1843A>G (p.Asn615Asp) c.1075A>G (p.Asn359Asp) n.1195A>G c.1777A>G (p.Asn593Asp) | |
X | g.53405561T>G | CA413252929 | SMC1A | c.1843A>C (p.Asn615His) c.1075A>C (p.Asn359His) n.1195A>C c.1777A>C (p.Asn593His) | |
X | g.53405562G>A | CA516688152 | SMC1A | c.1842C>T (p.Gly614=) c.1074C>T (p.Gly358=) n.1194C>T c.1776C>T (p.Gly592=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.53405562G>C | CA516688153 | SMC1A | c.1842C>G (p.Gly614=) c.1074C>G (p.Gly358=) n.1194C>G c.1776C>G (p.Gly592=) | |
X | g.53405562G= | CA2429825323 | SMC1A | c.1842C= (p.Gly614=) c.1074C= (p.Gly358=) n.1194C= c.1776C= (p.Gly592=) | |
X | g.53405562G>T | CA516688154 | SMC1A | c.1842C>A (p.Gly614=) c.1074C>A (p.Gly358=) n.1194C>A c.1776C>A (p.Gly592=) | |
X | g.53405563C>A | CA413252931 | SMC1A | c.1841G>T (p.Gly614Val) c.1073G>T (p.Gly358Val) n.1193G>T c.1775G>T (p.Gly592Val) | |
X | g.53405563C>G | CA413252933 | SMC1A | c.1841G>C (p.Gly614Ala) c.1073G>C (p.Gly358Ala) n.1193G>C c.1775G>C (p.Gly592Ala) | |
X | g.53405563C>T | CA413252932 | SMC1A | c.1841G>A (p.Gly614Asp) c.1073G>A (p.Gly358Asp) n.1193G>A c.1775G>A (p.Gly592Asp) | |
X | g.53405564C>A | CA413252936 | SMC1A | c.1840G>T (p.Gly614Cys) c.1072G>T (p.Gly358Cys) n.1192G>T c.1774G>T (p.Gly592Cys) | |
X | g.53405564C>G | CA413252939 | SMC1A | c.1840G>C (p.Gly614Arg) c.1072G>C (p.Gly358Arg) n.1192G>C c.1774G>C (p.Gly592Arg) | |
X | g.53405564C>T | CA413252938 | SMC1A | c.1840G>A (p.Gly614Ser) c.1072G>A (p.Gly358Ser) n.1192G>A c.1774G>A (p.Gly592Ser) | |
X | g.53405565A>C | CA413252941 | SMC1A | c.1839T>G (p.Cys613Trp) c.1071T>G (p.Cys357Trp) n.1191T>G c.1773T>G (p.Cys591Trp) | |
X | g.53405565A>G | CA516688159 | SMC1A | c.1839T>C (p.Cys613=) c.1071T>C (p.Cys357=) n.1191T>C c.1773T>C (p.Cys591=) | |
X | g.53405565A>T | CA413252943 | SMC1A | c.1839T>A (p.Cys613Ter) c.1071T>A (p.Cys357Ter) n.1191T>A c.1773T>A (p.Cys591Ter) | |
X | g.53405566C>A | CA413252945 | SMC1A | c.1838G>T (p.Cys613Phe) c.1070G>T (p.Cys357Phe) n.1190G>T c.1772G>T (p.Cys591Phe) | |
X | g.53405566C>G | CA413252947 | SMC1A | c.1838G>C (p.Cys613Ser) c.1070G>C (p.Cys357Ser) n.1190G>C c.1772G>C (p.Cys591Ser) | |
X | g.53405566C>T | CA413252949 | SMC1A | c.1838G>A (p.Cys613Tyr) c.1070G>A (p.Cys357Tyr) n.1190G>A c.1772G>A (p.Cys591Tyr) | |
X | g.53405567A>C | CA413252951 | SMC1A | c.1837T>G (p.Cys613Gly) c.1069T>G (p.Cys357Gly) n.1189T>G c.1771T>G (p.Cys591Gly) | |
X | g.53405567A>G | CA413252953 | SMC1A | c.1837T>C (p.Cys613Arg) c.1069T>C (p.Cys357Arg) n.1189T>C c.1771T>C (p.Cys591Arg) | |
X | g.53405567A>T | CA413252954 | SMC1A | c.1837T>A (p.Cys613Ser) c.1069T>A (p.Cys357Ser) n.1189T>A c.1771T>A (p.Cys591Ser) | |
X | g.53405568A>C | CA516688163 | SMC1A | c.1836T>G (p.Ala612=) c.1068T>G (p.Ala356=) n.1188T>G c.1770T>G (p.Ala590=) | |
X | g.53405568A>G | CA516688164 | SMC1A | c.1836T>C (p.Ala612=) c.1068T>C (p.Ala356=) n.1188T>C c.1770T>C (p.Ala590=) | |
X | g.53405568A>T | CA516688166 | SMC1A | c.1836T>A (p.Ala612=) c.1068T>A (p.Ala356=) n.1188T>A c.1770T>A (p.Ala590=) | |
X | g.53405568_53405569insACAAAACCAAACACACCCAAC | CA2820946882 | SMC1A | c.1835_1836insGTTGGGTGTGTTTGGTTTTGT (p.Ala612_Cys613insLeuGlyValPheGlyPheVal) c.1067_1068insGTTGGGTGTGTTTGGTTTTGT (p.Ala356_Cys357insLeuGlyValPheGlyPheVal) n.1187_1188insGTTGGGTGTGTTTGGTTTTGT c.1769_1770insGTTGGGTGTGTTTGGTTTTGT (p.Ala590_Cys591insLeuGlyValPheGlyPheVal) | |
X | g.53405569G>A | CA413252956 | SMC1A | c.1835C>T (p.Ala612Val) c.1067C>T (p.Ala356Val) n.1187C>T c.1769C>T (p.Ala590Val) | |
X | g.53405569G>C | CA413252958 | SMC1A | c.1835C>G (p.Ala612Gly) c.1067C>G (p.Ala356Gly) n.1187C>G c.1769C>G (p.Ala590Gly) | |
X | g.53405569G>T | CA413252960 | SMC1A | c.1835C>A (p.Ala612Asp) c.1067C>A (p.Ala356Asp) n.1187C>A c.1769C>A (p.Ala590Asp) | |
X | g.53405570C>A | CA413252961 | SMC1A | c.1834G>T (p.Ala612Ser) c.1066G>T (p.Ala356Ser) n.1186G>T c.1768G>T (p.Ala590Ser) | |
X | g.53405570C= | CA2429825324 | SMC1A | c.1834G= (p.Ala612=) c.1066G= (p.Ala356=) n.1186G= c.1768G= (p.Ala590=) | |
X | g.53405570C>G | CA413252963 | SMC1A | c.1834G>C (p.Ala612Pro) c.1066G>C (p.Ala356Pro) n.1186G>C c.1768G>C (p.Ala590Pro) | |
X | g.53405570C>T | CA234957 | SMC1A | c.1834G>A (p.Ala612Thr) c.1066G>A (p.Ala356Thr) n.1186G>A c.1768G>A (p.Ala590Thr) | ClinVar dbSNP |
X | g.53405571A>C | CA413252966 | SMC1A | c.1833T>G (p.Tyr611Ter) c.1065T>G (p.Tyr355Ter) n.1185T>G c.1767T>G (p.Tyr589Ter) | |
X | g.53405571A>G | CA516688173 | SMC1A | c.1833T>C (p.Tyr611=) c.1065T>C (p.Tyr355=) n.1185T>C c.1767T>C (p.Tyr589=) | |
X | g.53405571A>T | CA413252967 | SMC1A | c.1833T>A (p.Tyr611Ter) c.1065T>A (p.Tyr355Ter) n.1185T>A c.1767T>A (p.Tyr589Ter) | |
X | g.53405572T>A | CA413252969 | SMC1A | c.1832A>T (p.Tyr611Phe) c.1064A>T (p.Tyr355Phe) n.1184A>T c.1766A>T (p.Tyr589Phe) | |
X | g.53405572T>C | CA413252970 | SMC1A | c.1832A>G (p.Tyr611Cys) c.1064A>G (p.Tyr355Cys) n.1184A>G c.1766A>G (p.Tyr589Cys) | |
X | g.53405572T>G | CA413252971 | SMC1A | c.1832A>C (p.Tyr611Ser) c.1064A>C (p.Tyr355Ser) n.1184A>C c.1766A>C (p.Tyr589Ser) | |
X | g.53405572dup | CA2740092158 | SMC1A | c.1832dup (p.Tyr611Ter) c.1064dup (p.Tyr355Ter) n.1184dup c.1766dup (p.Tyr589Ter) | ClinVar |
X | g.53405573A>C | CA413252973 | SMC1A | c.1831T>G (p.Tyr611Asp) c.1063T>G (p.Tyr355Asp) n.1183T>G c.1765T>G (p.Tyr589Asp) | |
X | g.53405573A>G | CA413252975 | SMC1A | c.1831T>C (p.Tyr611His) c.1063T>C (p.Tyr355His) n.1183T>C c.1765T>C (p.Tyr589His) | |
X | g.53405573A>T | CA413252976 | SMC1A | c.1831T>A (p.Tyr611Asn) c.1063T>A (p.Tyr355Asn) n.1183T>A c.1765T>A (p.Tyr589Asn) | |
X | g.53405574C>A | CA413252977 | SMC1A | c.1830G>T (p.Gln610His) c.1062G>T (p.Gln354His) n.1182G>T c.1764G>T (p.Gln588His) | |
X | g.53405574C= | CA2429825325 | SMC1A | c.1830G= (p.Gln610=) c.1062G= (p.Gln354=) n.1182G= c.1764G= (p.Gln588=) | |
X | g.53405574C>G | CA413252978 | SMC1A | c.1830G>C (p.Gln610His) c.1062G>C (p.Gln354His) n.1182G>C c.1764G>C (p.Gln588His) | |
X | g.53405574C>T | CA516688179 | SMC1A | c.1830G>A (p.Gln610=) c.1062G>A (p.Gln354=) n.1182G>A c.1764G>A (p.Gln588=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.53405575T>A | CA413252980 | SMC1A | c.1829A>T (p.Gln610Leu) c.1061A>T (p.Gln354Leu) n.1181A>T c.1763A>T (p.Gln588Leu) | |
X | g.53405575T>C | CA413252981 | SMC1A | c.1829A>G (p.Gln610Arg) c.1061A>G (p.Gln354Arg) n.1181A>G c.1763A>G (p.Gln588Arg) | ClinVar |
X | g.53405575T>G | CA413252983 | SMC1A | c.1829A>C (p.Gln610Pro) c.1061A>C (p.Gln354Pro) n.1181A>C c.1763A>C (p.Gln588Pro) | |
X | g.53405576G>A | CA413252987 | SMC1A | c.1828C>T (p.Gln610Ter) c.1060C>T (p.Gln354Ter) n.1180C>T c.1762C>T (p.Gln588Ter) | |
X | g.53405576G>C | CA413252988 | SMC1A | c.1828C>G (p.Gln610Glu) c.1060C>G (p.Gln354Glu) n.1180C>G c.1762C>G (p.Gln588Glu) | |
X | g.53405576G>T | CA413252985 | SMC1A | c.1828C>A (p.Gln610Lys) c.1060C>A (p.Gln354Lys) n.1180C>A c.1762C>A (p.Gln588Lys) | |
X | g.53405577C>A | CA516688182 | SMC1A | c.1827G>T (p.Leu609=) c.1059G>T (p.Leu353=) n.1179G>T c.1761G>T (p.Leu587=) | |
X | g.53405577C>G | CA516688184 | SMC1A | c.1827G>C (p.Leu609=) c.1059G>C (p.Leu353=) n.1179G>C c.1761G>C (p.Leu587=) | |
X | g.53405577C>T | CA516688183 | SMC1A | c.1827G>A (p.Leu609=) c.1059G>A (p.Leu353=) n.1179G>A c.1761G>A (p.Leu587=) | gnomAD v4 |
X | g.53405578A>C | CA413252991 | SMC1A | c.1826T>G (p.Leu609Arg) c.1058T>G (p.Leu353Arg) n.1178T>G c.1760T>G (p.Leu587Arg) | |
X | g.53405578A>G | CA413252992 | SMC1A | c.1826T>C (p.Leu609Pro) c.1058T>C (p.Leu353Pro) n.1178T>C c.1760T>C (p.Leu587Pro) | |
X | g.53405578A>T | CA413252994 | SMC1A | c.1826T>A (p.Leu609Gln) c.1058T>A (p.Leu353Gln) n.1178T>A c.1760T>A (p.Leu587Gln) | |
X | g.53405579G>A | CA516688188 | SMC1A | c.1825C>T (p.Leu609=) c.1057C>T (p.Leu353=) n.1177C>T c.1759C>T (p.Leu587=) | |
X | g.53405579G>C | CA413252995 | SMC1A | c.1825C>G (p.Leu609Val) c.1057C>G (p.Leu353Val) n.1177C>G c.1759C>G (p.Leu587Val) | |
X | g.53405579G>T | CA413252997 | SMC1A | c.1825C>A (p.Leu609Met) c.1057C>A (p.Leu353Met) n.1177C>A c.1759C>A (p.Leu587Met) | |
X | g.53405581dup | CA2843207930 | SMC1A | c.1825dup (p.Leu609ProfsTer12) c.1057dup (p.Leu353ProfsTer12) n.1177dup c.1759dup (p.Leu587ProfsTer12) | |
X | g.53405580G>A | CA516688192 | SMC1A | c.1824C>T (p.Ala608=) c.1056C>T (p.Ala352=) n.1176C>T c.1758C>T (p.Ala586=) | gnomAD v4 |
X | g.53405580G>C | CA516688193 | SMC1A | c.1824C>G (p.Ala608=) c.1056C>G (p.Ala352=) n.1176C>G c.1758C>G (p.Ala586=) | |
X | g.53405580G>T | CA516688194 | SMC1A | c.1824C>A (p.Ala608=) c.1056C>A (p.Ala352=) n.1176C>A c.1758C>A (p.Ala586=) | |
X | g.53405581G>A | CA413252999 | SMC1A | c.1823C>T (p.Ala608Val) c.1055C>T (p.Ala352Val) n.1175C>T c.1757C>T (p.Ala586Val) | |
X | g.53405581G>C | CA413253001 | SMC1A | c.1823C>G (p.Ala608Gly) c.1055C>G (p.Ala352Gly) n.1175C>G c.1757C>G (p.Ala586Gly) | |
X | g.53405581G>T | CA413253002 | SMC1A | c.1823C>A (p.Ala608Asp) c.1055C>A (p.Ala352Asp) n.1175C>A c.1757C>A (p.Ala586Asp) | |
X | g.53405582C>A | CA413253004 | SMC1A | c.1822G>T (p.Ala608Ser) c.1054G>T (p.Ala352Ser) n.1174G>T c.1756G>T (p.Ala586Ser) | |
X | g.53405582C>G | CA413253005 | SMC1A | c.1822G>C (p.Ala608Pro) c.1054G>C (p.Ala352Pro) n.1174G>C c.1756G>C (p.Ala586Pro) | |
X | g.53405582C>T | CA413253006 | SMC1A | c.1822G>A (p.Ala608Thr) c.1054G>A (p.Ala352Thr) n.1174G>A c.1756G>A (p.Ala586Thr) | |
X | g.53405583C>A | CA413253008 | SMC1A | c.1821G>T (p.Lys607Asn) c.1053G>T (p.Lys351Asn) n.1173G>T c.1755G>T (p.Lys585Asn) | |
X | g.53405583C= | CA2429825326 | SMC1A | c.1821G= (p.Lys607=) c.1053G= (p.Lys351=) n.1173G= c.1755G= (p.Lys585=) | |
X | g.53405583C>G | CA413253009 | SMC1A | c.1821G>C (p.Lys607Asn) c.1053G>C (p.Lys351Asn) n.1173G>C c.1755G>C (p.Lys585Asn) | dbSNP |
X | g.53405583C>T | CA516688198 | SMC1A | c.1821G>A (p.Lys607=) c.1053G>A (p.Lys351=) n.1173G>A c.1755G>A (p.Lys585=) | |
X | g.53405584T>A | CA413253014 | SMC1A | c.1820A>T (p.Lys607Met) c.1052A>T (p.Lys351Met) n.1172A>T c.1754A>T (p.Lys585Met) | |
X | g.53405584T>C | CA413253012 | SMC1A | c.1820A>G (p.Lys607Arg) c.1052A>G (p.Lys351Arg) n.1172A>G c.1754A>G (p.Lys585Arg) | |
X | g.53405584T>G | CA413253011 | SMC1A | c.1820A>C (p.Lys607Thr) c.1052A>C (p.Lys351Thr) n.1172A>C c.1754A>C (p.Lys585Thr) | |
X | g.53405585T>A | CA413253015 | SMC1A | c.1819A>T (p.Lys607Ter) c.1051A>T (p.Lys351Ter) n.1171A>T c.1753A>T (p.Lys585Ter) | |
X | g.53405585T>C | CA413253016 | SMC1A | c.1819A>G (p.Lys607Glu) c.1051A>G (p.Lys351Glu) n.1171A>G c.1753A>G (p.Lys585Glu) | |
X | g.53405585T>G | CA413253017 | SMC1A | c.1819A>C (p.Lys607Gln) c.1051A>C (p.Lys351Gln) n.1171A>C c.1753A>C (p.Lys585Gln) | |
X | g.53405586T>A | CA413253019 | SMC1A | c.1818A>T (p.Lys606Asn) c.1050A>T (p.Lys350Asn) n.1170A>T c.1752A>T (p.Lys584Asn) | |
X | g.53405586T>C | CA516688205 | SMC1A | c.1818A>G (p.Lys606=) c.1050A>G (p.Lys350=) n.1170A>G c.1752A>G (p.Lys584=) | |
X | g.53405586T>G | CA413253020 | SMC1A | c.1818A>C (p.Lys606Asn) c.1050A>C (p.Lys350Asn) n.1170A>C c.1752A>C (p.Lys584Asn) |