| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.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.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.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.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) | |
| X | g.53405587T>A | CA413253021 | SMC1A | c.1817A>T (p.Lys606Ile) c.1049A>T (p.Lys350Ile) n.1169A>T c.1751A>T (p.Lys584Ile) | |
| X | g.53405587T>C | CA413253023 | SMC1A | c.1817A>G (p.Lys606Arg) c.1049A>G (p.Lys350Arg) n.1169A>G c.1751A>G (p.Lys584Arg) | |
| X | g.53405587T>G | CA413253025 | SMC1A | c.1817A>C (p.Lys606Thr) c.1049A>C (p.Lys350Thr) n.1169A>C c.1751A>C (p.Lys584Thr) | |
| X | g.53405588T>A | CA413253026 | SMC1A | c.1816A>T (p.Lys606Ter) c.1048A>T (p.Lys350Ter) n.1168A>T c.1750A>T (p.Lys584Ter) | |
| X | g.53405588T>C | CA413253027 | SMC1A | c.1816A>G (p.Lys606Glu) c.1048A>G (p.Lys350Glu) n.1168A>G c.1750A>G (p.Lys584Glu) | |
| X | g.53405588T>G | CA413253029 | SMC1A | c.1816A>C (p.Lys606Gln) c.1048A>C (p.Lys350Gln) n.1168A>C c.1750A>C (p.Lys584Gln) | |
| X | g.53405589G>A | CA516688209 | SMC1A | c.1815C>T (p.Ile605=) c.1047C>T (p.Ile349=) n.1167C>T c.1749C>T (p.Ile583=) | |
| X | g.53405589G>C | CA413253031 | SMC1A | c.1815C>G (p.Ile605Met) c.1047C>G (p.Ile349Met) n.1167C>G c.1749C>G (p.Ile583Met) | |
| X | g.53405589G>T | CA516688210 | SMC1A | c.1815C>A (p.Ile605=) c.1047C>A (p.Ile349=) n.1167C>A c.1749C>A (p.Ile583=) | |
| X | g.53405590A>C | CA413253036 | SMC1A | c.1814T>G (p.Ile605Ser) c.1046T>G (p.Ile349Ser) n.1166T>G c.1748T>G (p.Ile583Ser) | |
| X | g.53405590A>G | CA413253034 | SMC1A | c.1814T>C (p.Ile605Thr) c.1046T>C (p.Ile349Thr) n.1166T>C c.1748T>C (p.Ile583Thr) | |
| X | g.53405590A>T | CA413253033 | SMC1A | c.1814T>A (p.Ile605Asn) c.1046T>A (p.Ile349Asn) n.1166T>A c.1748T>A (p.Ile583Asn) | |
| X | g.53405592_53405593del | CA2580612341 | SMC1A | c.1813_1814del (p.Ile605GlnfsTer15) c.1045_1046del (p.Ile349GlnfsTer15) n.1165_1166del c.1747_1748del (p.Ile583GlnfsTer15) | ClinVar dbSNP |
| X | g.53405591T>A | CA413253038 | SMC1A | c.1813A>T (p.Ile605Phe) c.1045A>T (p.Ile349Phe) n.1165A>T c.1747A>T (p.Ile583Phe) | |
| X | g.53405591T>C | CA413253041 | SMC1A | c.1813A>G (p.Ile605Val) c.1045A>G (p.Ile349Val) n.1165A>G c.1747A>G (p.Ile583Val) | |
| X | g.53405591T>G | CA413253040 | SMC1A | c.1813A>C (p.Ile605Leu) c.1045A>C (p.Ile349Leu) n.1165A>C c.1747A>C (p.Ile583Leu) | |
| X | g.53405592A= | CA2429825327 | SMC1A | c.1812T= (p.His604=) c.1044T= (p.His348=) n.1164T= c.1746T= (p.His582=) | |
| X | g.53405592A>C | CA413253042 | SMC1A | c.1812T>G (p.His604Gln) c.1044T>G (p.His348Gln) n.1164T>G c.1746T>G (p.His582Gln) | |
| X | g.53405592A>G | CA516688216 | SMC1A | c.1812T>C (p.His604=) c.1044T>C (p.His348=) n.1164T>C c.1746T>C (p.His582=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53405592A>T | CA413253043 | SMC1A | c.1812T>A (p.His604Gln) c.1044T>A (p.His348Gln) n.1164T>A c.1746T>A (p.His582Gln) | |
| X | g.53405593T>A | CA413253045 | SMC1A | c.1811A>T (p.His604Leu) c.1043A>T (p.His348Leu) n.1163A>T c.1745A>T (p.His582Leu) | |
| X | g.53405593T>C | CA413253047 | SMC1A | c.1811A>G (p.His604Arg) c.1043A>G (p.His348Arg) n.1163A>G c.1745A>G (p.His582Arg) | |
| X | g.53405593T>G | CA413253049 | SMC1A | c.1811A>C (p.His604Pro) c.1043A>C (p.His348Pro) n.1163A>C c.1745A>C (p.His582Pro) | |
| X | g.53405594G>A | CA413253051 | SMC1A | c.1810C>T (p.His604Tyr) c.1042C>T (p.His348Tyr) n.1162C>T c.1744C>T (p.His582Tyr) | |
| X | g.53405594G>C | CA413253053 | SMC1A | c.1810C>G (p.His604Asp) c.1042C>G (p.His348Asp) n.1162C>G c.1744C>G (p.His582Asp) | |
| X | g.53405594G>T | CA413253055 | SMC1A | c.1810C>A (p.His604Asn) c.1042C>A (p.His348Asn) n.1162C>A c.1744C>A (p.His582Asn) | |
| X | g.53405595A= | CA2429825328 | SMC1A | c.1809T= (p.Pro603=) c.1041T= (p.Pro347=) n.1161T= c.1743T= (p.Pro581=) | |
| X | g.53405595A>C | CA516688221 | SMC1A | c.1809T>G (p.Pro603=) c.1041T>G (p.Pro347=) n.1161T>G c.1743T>G (p.Pro581=) | |
| X | g.53405595A>G | CA516688222 | SMC1A | c.1809T>C (p.Pro603=) c.1041T>C (p.Pro347=) n.1161T>C c.1743T>C (p.Pro581=) | |
| X | g.53405595A>T | CA10420517 | SMC1A | c.1809T>A (p.Pro603=) c.1041T>A (p.Pro347=) n.1161T>A c.1743T>A (p.Pro581=) | dbSNP ExAC gnomAD v2 |
| X | g.53405596G>A | CA413253056 | SMC1A | c.1808C>T (p.Pro603Leu) c.1040C>T (p.Pro347Leu) n.1160C>T c.1742C>T (p.Pro581Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.53405596G>C | CA413253058 | SMC1A | c.1808C>G (p.Pro603Arg) c.1040C>G (p.Pro347Arg) n.1160C>G c.1742C>G (p.Pro581Arg) | |
| X | g.53405596G= | CA2429825329 | SMC1A | c.1808C= (p.Pro603=) c.1040C= (p.Pro347=) n.1160C= c.1742C= (p.Pro581=) | |
| X | g.53405596G>T | CA413253059 | SMC1A | c.1808C>A (p.Pro603His) c.1040C>A (p.Pro347His) n.1160C>A c.1742C>A (p.Pro581His) | |
| X | g.53405597G>A | CA413253064 | SMC1A | c.1807C>T (p.Pro603Ser) c.1039C>T (p.Pro347Ser) n.1159C>T c.1741C>T (p.Pro581Ser) | |
| X | g.53405597G>C | CA413253061 | SMC1A | c.1807C>G (p.Pro603Ala) c.1039C>G (p.Pro347Ala) n.1159C>G c.1741C>G (p.Pro581Ala) | |
| X | g.53405597G>T | CA413253062 | SMC1A | c.1807C>A (p.Pro603Thr) c.1039C>A (p.Pro347Thr) n.1159C>A c.1741C>A (p.Pro581Thr) | |
| X | g.53405598T>A | CA516688227 | SMC1A | c.1806A>T (p.Pro602=) c.1038A>T (p.Pro346=) n.1158A>T c.1740A>T (p.Pro580=) | gnomAD v4 |
| X | g.53405598T>C | CA516688228 | SMC1A | c.1806A>G (p.Pro602=) c.1038A>G (p.Pro346=) n.1158A>G c.1740A>G (p.Pro580=) | dbSNP gnomAD v4 |
| X | g.53405598T>G | CA516688229 | SMC1A | c.1806A>C (p.Pro602=) c.1038A>C (p.Pro346=) n.1158A>C c.1740A>C (p.Pro580=) | |
| X | g.53405598T= | CA2429825330 | SMC1A | c.1806A= (p.Pro602=) c.1038A= (p.Pro346=) n.1158A= c.1740A= (p.Pro580=) | |
| X | g.53405599G>A | CA413253065 | SMC1A | c.1805C>T (p.Pro602Leu) c.1037C>T (p.Pro346Leu) n.1157C>T c.1739C>T (p.Pro580Leu) | |
| X | g.53405599G>C | CA413253067 | SMC1A | c.1805C>G (p.Pro602Arg) c.1037C>G (p.Pro346Arg) n.1157C>G c.1739C>G (p.Pro580Arg) | |
| X | g.53405599G>T | CA413253069 | SMC1A | c.1805C>A (p.Pro602Gln) c.1037C>A (p.Pro346Gln) n.1157C>A c.1739C>A (p.Pro580Gln) | COSMIC |
| X | g.53405600G>A | CA413253070 | SMC1A | c.1804C>T (p.Pro602Ser) c.1036C>T (p.Pro346Ser) n.1156C>T c.1738C>T (p.Pro580Ser) | |
| X | g.53405600G>C | CA413253071 | SMC1A | c.1804C>G (p.Pro602Ala) c.1036C>G (p.Pro346Ala) n.1156C>G c.1738C>G (p.Pro580Ala) | |
| X | g.53405600G>T | CA413253072 | SMC1A | c.1804C>A (p.Pro602Thr) c.1036C>A (p.Pro346Thr) n.1156C>A c.1738C>A (p.Pro580Thr) | |
| X | g.53405601C>A | CA413253074 | SMC1A | c.1803G>T (p.Glu601Asp) c.1035G>T (p.Glu345Asp) n.1155G>T c.1737G>T (p.Glu579Asp) | |
| X | g.53405601C>G | CA413253076 | SMC1A | c.1803G>C (p.Glu601Asp) c.1035G>C (p.Glu345Asp) n.1155G>C c.1737G>C (p.Glu579Asp) | gnomAD v4 |
| X | g.53405601C>T | CA516688236 | SMC1A | c.1803G>A (p.Glu601=) c.1035G>A (p.Glu345=) n.1155G>A c.1737G>A (p.Glu579=) | |
| X | g.53405602T>A | CA413253078 | SMC1A | c.1802A>T (p.Glu601Val) c.1034A>T (p.Glu345Val) n.1154A>T c.1736A>T (p.Glu579Val) | |
| X | g.53405602T>C | CA413253080 | SMC1A | c.1802A>G (p.Glu601Gly) c.1034A>G (p.Glu345Gly) n.1154A>G c.1736A>G (p.Glu579Gly) | |
| X | g.53405602T>G | CA413253084 | SMC1A | c.1802A>C (p.Glu601Ala) c.1034A>C (p.Glu345Ala) n.1154A>C c.1736A>C (p.Glu579Ala) | |
| X | g.53405603C>A | CA413253089 | SMC1A | c.1801G>T (p.Glu601Ter) c.1033G>T (p.Glu345Ter) n.1153G>T c.1735G>T (p.Glu579Ter) | |
| X | g.53405603C>G | CA413253087 | SMC1A | c.1801G>C (p.Glu601Gln) c.1033G>C (p.Glu345Gln) n.1153G>C c.1735G>C (p.Glu579Gln) | |
| X | g.53405603C>T | CA413253086 | SMC1A | c.1801G>A (p.Glu601Lys) c.1033G>A (p.Glu345Lys) n.1153G>A c.1735G>A (p.Glu579Lys) | |
| X | g.53405604A>C | CA413253092 | SMC1A | c.1800T>G (p.Tyr600Ter) c.1032T>G (p.Tyr344Ter) n.1152T>G c.1734T>G (p.Tyr578Ter) | gnomAD v4 |
| X | g.53405604A>G | CA516688244 | SMC1A | c.1800T>C (p.Tyr600=) c.1032T>C (p.Tyr344=) n.1152T>C c.1734T>C (p.Tyr578=) | |
| X | g.53405604A>T | CA413253093 | SMC1A | c.1800T>A (p.Tyr600Ter) c.1032T>A (p.Tyr344Ter) n.1152T>A c.1734T>A (p.Tyr578Ter) | |
| X | g.53405605T>A | CA413253095 | SMC1A | c.1799A>T (p.Tyr600Phe) c.1031A>T (p.Tyr344Phe) n.1151A>T c.1733A>T (p.Tyr578Phe) | ClinVar |
| X | g.53405605T>C | CA413253097 | SMC1A | c.1799A>G (p.Tyr600Cys) c.1031A>G (p.Tyr344Cys) n.1151A>G c.1733A>G (p.Tyr578Cys) | |
| X | g.53405605T>G | CA413253099 | SMC1A | c.1799A>C (p.Tyr600Ser) c.1031A>C (p.Tyr344Ser) n.1151A>C c.1733A>C (p.Tyr578Ser) | |
| X | g.53405606A>C | CA413253101 | SMC1A | c.1798T>G (p.Tyr600Asp) c.1030T>G (p.Tyr344Asp) n.1150T>G c.1732T>G (p.Tyr578Asp) | |
| X | g.53405606A>G | CA413253103 | SMC1A | c.1798T>C (p.Tyr600His) c.1030T>C (p.Tyr344His) n.1150T>C c.1732T>C (p.Tyr578His) | |
| X | g.53405606A>T | CA413253105 | SMC1A | c.1798T>A (p.Tyr600Asn) c.1030T>A (p.Tyr344Asn) n.1150T>A c.1732T>A (p.Tyr578Asn) | |
| X | g.53405607G>A | CA516688249 | SMC1A | c.1797C>T (p.Arg599=) c.1029C>T (p.Arg343=) n.1149C>T c.1731C>T (p.Arg577=) | |
| X | g.53405607G>C | CA516688254 | SMC1A | c.1797C>G (p.Arg599=) c.1029C>G (p.Arg343=) n.1149C>G c.1731C>G (p.Arg577=) | |
| X | g.53405607G>T | CA516688252 | SMC1A | c.1797C>A (p.Arg599=) c.1029C>A (p.Arg343=) n.1149C>A c.1731C>A (p.Arg577=) | |
| X | g.53405608C>A | CA413253107 | SMC1A | c.1796G>T (p.Arg599Leu) c.1028G>T (p.Arg343Leu) n.1148G>T c.1730G>T (p.Arg577Leu) | |
| X | g.53405608C>G | CA413253109 | SMC1A | c.1796G>C (p.Arg599Pro) c.1028G>C (p.Arg343Pro) n.1148G>C c.1730G>C (p.Arg577Pro) | |
| X | g.53405608C>T | CA413253110 | SMC1A | c.1796G>A (p.Arg599His) c.1028G>A (p.Arg343His) n.1148G>A c.1730G>A (p.Arg577His) | |
| X | g.53405609G>A | CA413253113 | SMC1A | c.1795C>T (p.Arg599Cys) c.1027C>T (p.Arg343Cys) n.1147C>T c.1729C>T (p.Arg577Cys) | gnomAD v4 |
| X | g.53405609G>C | CA413253114 | SMC1A | c.1795C>G (p.Arg599Gly) c.1027C>G (p.Arg343Gly) n.1147C>G c.1729C>G (p.Arg577Gly) | |
| X | g.53405609G>T | CA413253115 | SMC1A | c.1795C>A (p.Arg599Ser) c.1027C>A (p.Arg343Ser) n.1147C>A c.1729C>A (p.Arg577Ser) | |
| X | g.53405610A>C | CA413253117 | SMC1A | c.1794T>G (p.Ile598Met) c.1026T>G (p.Ile342Met) n.1146T>G c.1728T>G (p.Ile576Met) | |
| X | g.53405610A>G | CA516688259 | SMC1A | c.1794T>C (p.Ile598=) c.1026T>C (p.Ile342=) n.1146T>C c.1728T>C (p.Ile576=) | |
| X | g.53405610A>T | CA516688260 | SMC1A | c.1794T>A (p.Ile598=) c.1026T>A (p.Ile342=) n.1146T>A c.1728T>A (p.Ile576=) | |
| X | g.53405611A>C | CA413253119 | SMC1A | c.1793T>G (p.Ile598Ser) c.1025T>G (p.Ile342Ser) n.1145T>G c.1727T>G (p.Ile576Ser) | |
| X | g.53405611A>G | CA413253121 | SMC1A | c.1793T>C (p.Ile598Thr) c.1025T>C (p.Ile342Thr) n.1145T>C c.1727T>C (p.Ile576Thr) | |
| X | g.53405611A>T | CA413253122 | SMC1A | c.1793T>A (p.Ile598Asn) c.1025T>A (p.Ile342Asn) n.1145T>A c.1727T>A (p.Ile576Asn) | |
| X | g.53405612T>A | CA413253125 | SMC1A | c.1792A>T (p.Ile598Phe) c.1024A>T (p.Ile342Phe) n.1144A>T c.1726A>T (p.Ile576Phe) | |
| X | g.53405612T>C | CA413253127 | SMC1A | c.1792A>G (p.Ile598Val) c.1024A>G (p.Ile342Val) n.1144A>G c.1726A>G (p.Ile576Val) | |
| X | g.53405612T>G | CA413253128 | SMC1A | c.1792A>C (p.Ile598Leu) c.1024A>C (p.Ile342Leu) n.1144A>C c.1726A>C (p.Ile576Leu) | |
| X | g.53405613C>A | CA516688264 | SMC1A | c.1791G>T (p.Val597=) c.1023G>T (p.Val341=) n.1143G>T c.1725G>T (p.Val575=) | |
| X | g.53405613C>G | CA516688265 | SMC1A | c.1791G>C (p.Val597=) c.1023G>C (p.Val341=) n.1143G>C c.1725G>C (p.Val575=) | |
| X | g.53405613C>T | CA516688266 | SMC1A | c.1791G>A (p.Val597=) c.1023G>A (p.Val341=) n.1143G>A c.1725G>A (p.Val575=) | COSMIC |
| X | g.53405614A>C | CA413253131 | SMC1A | c.1790T>G (p.Val597Gly) c.1022T>G (p.Val341Gly) n.1142T>G c.1724T>G (p.Val575Gly) | |
| X | g.53405614A>G | CA413253133 | SMC1A | c.1790T>C (p.Val597Ala) c.1022T>C (p.Val341Ala) n.1142T>C c.1724T>C (p.Val575Ala) | |
| X | g.53405614A>T | CA413253134 | SMC1A | c.1790T>A (p.Val597Glu) c.1022T>A (p.Val341Glu) n.1142T>A c.1724T>A (p.Val575Glu) | |
| X | g.53405615C>A | CA413253137 | SMC1A | c.1789G>T (p.Val597Leu) c.1021G>T (p.Val341Leu) n.1141G>T c.1723G>T (p.Val575Leu) | |
| X | g.53405615C= | CA2429825332 | SMC1A | c.1789G= (p.Val597=) c.1021G= (p.Val341=) n.1141G= c.1723G= (p.Val575=) | |
| X | g.53405615C>G | CA413253138 | SMC1A | c.1789G>C (p.Val597Leu) c.1021G>C (p.Val341Leu) n.1141G>C c.1723G>C (p.Val575Leu) | |
| X | g.53405615C>T | CA413253140 | SMC1A | c.1789G>A (p.Val597Met) c.1021G>A (p.Val341Met) n.1141G>A c.1723G>A (p.Val575Met) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53405615_53405619delinsCATCA | CA2429825331 | SMC1A | c.1785_1789delinsTGATG (p.Ile595=) c.1017_1021delinsTGATG (p.Ile339=) n.1137_1141delinsTGATG c.1719_1723delinsTGATG (p.Ile573=) | |
| X | g.53405616A= | CA2429825333 | SMC1A | c.1788T= (p.Asp596=) c.1020T= (p.Asp340=) n.1140T= c.1722T= (p.Asp574=) | |
| X | g.53405616A>C | CA413253142 | SMC1A | c.1788T>G (p.Asp596Glu) c.1020T>G (p.Asp340Glu) n.1140T>G c.1722T>G (p.Asp574Glu) | |
| X | g.53405616A>G | CA10420518 | SMC1A | c.1788T>C (p.Asp596=) c.1020T>C (p.Asp340=) n.1140T>C c.1722T>C (p.Asp574=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53405616A>T | CA413253144 | SMC1A | c.1788T>A (p.Asp596Glu) c.1020T>A (p.Asp340Glu) n.1140T>A c.1722T>A (p.Asp574Glu) | |
| X | g.53405620_53405623del | CA915951068 | SMC1A | c.1785_1788del (p.Ile595MetfsTer2) c.1017_1020del (p.Ile339MetfsTer2) n.1137_1140del c.1719_1722del (p.Ile573MetfsTer2) | ClinVar dbSNP |
| X | g.53405617T>A | CA413253148 | SMC1A | c.1787A>T (p.Asp596Val) c.1019A>T (p.Asp340Val) n.1139A>T c.1721A>T (p.Asp574Val) | |
| X | g.53405617T>C | CA413253151 | SMC1A | c.1787A>G (p.Asp596Gly) c.1019A>G (p.Asp340Gly) n.1139A>G c.1721A>G (p.Asp574Gly) | |
| X | g.53405617T>G | CA413253149 | SMC1A | c.1787A>C (p.Asp596Ala) c.1019A>C (p.Asp340Ala) n.1139A>C c.1721A>C (p.Asp574Ala) | |
| X | g.53405618C>A | CA413253152 | SMC1A | c.1786G>T (p.Asp596Tyr) c.1018G>T (p.Asp340Tyr) n.1138G>T c.1720G>T (p.Asp574Tyr) | |
| X | g.53405618C>G | CA413253156 | SMC1A | c.1786G>C (p.Asp596His) c.1018G>C (p.Asp340His) n.1138G>C c.1720G>C (p.Asp574His) | |
| X | g.53405618C>T | CA413253154 | SMC1A | c.1786G>A (p.Asp596Asn) c.1018G>A (p.Asp340Asn) n.1138G>A c.1720G>A (p.Asp574Asn) |