| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920809_51920812del | CA2795983780 | ACVRL1 | c.1158_1161del (p.Ser387ProfsTer24) c.1428_1431del (p.Ser477ProfsTer24) c.906_909del (p.Ser303ProfsTer24) c.1470_1473del (p.Ser491ProfsTer24) c.639_642del (p.Ser214ProfsTer24) | |
| 12 | g.51920811C>A | CA384905635 | ACVRL1 | c.1160C>A (p.Ser387Tyr) c.1430C>A (p.Ser477Tyr) c.908C>A (p.Ser303Tyr) c.1472C>A (p.Ser491Tyr) c.641C>A (p.Ser214Tyr) | |
| 12 | g.51920811C= | CA2036241809 | ACVRL1 | c.1160C= (p.Ser387=) c.1430C= (p.Ser477=) c.908C= (p.Ser303=) c.1472C= (p.Ser491=) c.641C= (p.Ser214=) | |
| 12 | g.51920811C>G | CA384905659 | ACVRL1 | c.1160C>G (p.Ser387Cys) c.1430C>G (p.Ser477Cys) c.908C>G (p.Ser303Cys) c.1472C>G (p.Ser491Cys) c.641C>G (p.Ser214Cys) | |
| 12 | g.51920811C>T | CA384905655 | ACVRL1 | c.1160C>T (p.Ser387Phe) c.1430C>T (p.Ser477Phe) c.908C>T (p.Ser303Phe) c.1472C>T (p.Ser491Phe) c.641C>T (p.Ser214Phe) | dbSNP gnomAD v4 |
| 12 | g.51920812_51920813insCACCCGCT | CA2695216729 | ACVRL1 | c.1161_1162insCACCCGCT (p.Ala388HisfsTer27) c.1431_1432insCACCCGCT (p.Ala478HisfsTer27) c.909_910insCACCCGCT (p.Ala304HisfsTer27) c.1473_1474insCACCCGCT (p.Ala492HisfsTer27) c.642_643insCACCCGCT (p.Ala215HisfsTer27) | |
| 12 | g.51920812T>A | CA479816644 | ACVRL1 | c.1161T>A (p.Ser387=) c.1431T>A (p.Ser477=) c.909T>A (p.Ser303=) c.1473T>A (p.Ser491=) c.642T>A (p.Ser214=) | |
| 12 | g.51920812T>C | CA479816646 | ACVRL1 | c.1161T>C (p.Ser387=) c.1431T>C (p.Ser477=) c.909T>C (p.Ser303=) c.1473T>C (p.Ser491=) c.642T>C (p.Ser214=) | |
| 12 | g.51920812T>G | CA479816652 | ACVRL1 | c.1161T>G (p.Ser387=) c.1431T>G (p.Ser477=) c.909T>G (p.Ser303=) c.1473T>G (p.Ser491=) c.642T>G (p.Ser214=) | |
| 12 | g.51920813G>A | CA384905663 | ACVRL1 | c.1162G>A (p.Ala388Thr) c.1432G>A (p.Ala478Thr) c.910G>A (p.Ala304Thr) c.1474G>A (p.Ala492Thr) c.643G>A (p.Ala215Thr) | |
| 12 | g.51920813G>C | CA384905669 | ACVRL1 | c.1162G>C (p.Ala388Pro) c.1432G>C (p.Ala478Pro) c.910G>C (p.Ala304Pro) c.1474G>C (p.Ala492Pro) c.643G>C (p.Ala215Pro) | ClinVar dbSNP |
| 12 | g.51920813G= | CA2036241811 | ACVRL1 | c.1162G= (p.Ala388=) c.1432G= (p.Ala478=) c.910G= (p.Ala304=) c.1474G= (p.Ala492=) c.643G= (p.Ala215=) | |
| 12 | g.51920813G>T | CA384905671 | ACVRL1 | c.1162G>T (p.Ala388Ser) c.1432G>T (p.Ala478Ser) c.910G>T (p.Ala304Ser) c.1474G>T (p.Ala492Ser) c.643G>T (p.Ala215Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920814C>A | CA384905673 | ACVRL1 | c.1163C>A (p.Ala388Asp) c.1433C>A (p.Ala478Asp) c.911C>A (p.Ala304Asp) c.1475C>A (p.Ala492Asp) c.644C>A (p.Ala215Asp) | ClinVar dbSNP |
| 12 | g.51920814C= | CA2036241815 | ACVRL1 | c.1163C= (p.Ala388=) c.1433C= (p.Ala478=) c.911C= (p.Ala304=) c.1475C= (p.Ala492=) c.644C= (p.Ala215=) | |
| 12 | g.51920814C>G | CA384905675 | ACVRL1 | c.1163C>G (p.Ala388Gly) c.1433C>G (p.Ala478Gly) c.911C>G (p.Ala304Gly) c.1475C>G (p.Ala492Gly) c.644C>G (p.Ala215Gly) | |
| 12 | g.51920814C>T | CA384905678 | ACVRL1 | c.1163C>T (p.Ala388Val) c.1433C>T (p.Ala478Val) c.911C>T (p.Ala304Val) c.1475C>T (p.Ala492Val) c.644C>T (p.Ala215Val) | gnomAD v4 |
| 12 | g.51920815C>A | CA479816668 | ACVRL1 | c.1164C>A (p.Ala388=) c.1434C>A (p.Ala478=) c.912C>A (p.Ala304=) c.1476C>A (p.Ala492=) c.645C>A (p.Ala215=) | gnomAD v4 |
| 12 | g.51920815C= | CA2036241818 | ACVRL1 | c.1164C= (p.Ala388=) c.1434C= (p.Ala478=) c.912C= (p.Ala304=) c.1476C= (p.Ala492=) c.645C= (p.Ala215=) | |
| 12 | g.51920815C>G | CA479816682 | ACVRL1 | c.1164C>G (p.Ala388=) c.1434C>G (p.Ala478=) c.912C>G (p.Ala304=) c.1476C>G (p.Ala492=) c.645C>G (p.Ala215=) | dbSNP gnomAD v4 |
| 12 | g.51920815C>T | CA479816693 | ACVRL1 | c.1164C>T (p.Ala388=) c.1434C>T (p.Ala478=) c.912C>T (p.Ala304=) c.1476C>T (p.Ala492=) c.645C>T (p.Ala215=) | gnomAD v4 |
| 12 | g.51920816C>A | CA479816697 | ACVRL1 | c.1165C>A (p.Arg389=) c.1435C>A (p.Arg479=) c.913C>A (p.Arg305=) c.1477C>A (p.Arg493=) c.646C>A (p.Arg216=) | gnomAD v4 |
| 12 | g.51920816C= | CA2036241824 | ACVRL1 | c.1165C= (p.Arg389=) c.1435C= (p.Arg479=) c.913C= (p.Arg305=) c.1477C= (p.Arg493=) c.646C= (p.Arg216=) | |
| 12 | g.51920816C>G | CA384905679 | ACVRL1 | c.1165C>G (p.Arg389Gly) c.1435C>G (p.Arg479Gly) c.913C>G (p.Arg305Gly) c.1477C>G (p.Arg493Gly) c.646C>G (p.Arg216Gly) | |
| 12 | g.51920816C>T | CA16042853 | ACVRL1 | c.1165C>T (p.Arg389Ter) c.1435C>T (p.Arg479Ter) c.913C>T (p.Arg305Ter) c.1477C>T (p.Arg493Ter) c.646C>T (p.Arg216Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920817_51920821dup | CA2695199089 | ACVRL1 | c.1166_1170dup (p.Thr391AspfsTer23) c.1436_1440dup (p.Thr481AspfsTer23) c.914_918dup (p.Thr307AspfsTer23) c.1478_1482dup (p.Thr495AspfsTer23) c.647_651dup (p.Thr218AspfsTer23) | ClinVar |
| 12 | g.51920817G>A | CA384905684 | ACVRL1 | c.1166G>A (p.Arg389Gln) c.1436G>A (p.Arg479Gln) c.914G>A (p.Arg305Gln) c.1478G>A (p.Arg493Gln) c.647G>A (p.Arg216Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920817G>C | CA384905687 | ACVRL1 | c.1166G>C (p.Arg389Pro) c.1436G>C (p.Arg479Pro) c.914G>C (p.Arg305Pro) c.1478G>C (p.Arg493Pro) c.647G>C (p.Arg216Pro) | ClinVar dbSNP |
| 12 | g.51920817G= | CA2036241828 | ACVRL1 | c.1166G= (p.Arg389=) c.1436G= (p.Arg479=) c.914G= (p.Arg305=) c.1478G= (p.Arg493=) c.647G= (p.Arg216=) | |
| 12 | g.51920817G>T | CA384905691 | ACVRL1 | c.1166G>T (p.Arg389Leu) c.1436G>T (p.Arg479Leu) c.914G>T (p.Arg305Leu) c.1478G>T (p.Arg493Leu) c.647G>T (p.Arg216Leu) | |
| 12 | g.51920818A>C | CA479816714 | ACVRL1 | c.1167A>C (p.Arg389=) c.1437A>C (p.Arg479=) c.915A>C (p.Arg305=) c.1479A>C (p.Arg493=) c.648A>C (p.Arg216=) | |
| 12 | g.51920818A>G | CA479816717 | ACVRL1 | c.1167A>G (p.Arg389=) c.1437A>G (p.Arg479=) c.915A>G (p.Arg305=) c.1479A>G (p.Arg493=) c.648A>G (p.Arg216=) | |
| 12 | g.51920818A>T | CA479816721 | ACVRL1 | c.1167A>T (p.Arg389=) c.1437A>T (p.Arg479=) c.915A>T (p.Arg305=) c.1479A>T (p.Arg493=) c.648A>T (p.Arg216=) | |
| 12 | g.51920819C>A | CA384905708 | ACVRL1 | c.1168C>A (p.Leu390Ile) c.1438C>A (p.Leu480Ile) c.916C>A (p.Leu306Ile) c.1480C>A (p.Leu494Ile) c.649C>A (p.Leu217Ile) | ClinVar |
| 12 | g.51920819C>G | CA384905706 | ACVRL1 | c.1168C>G (p.Leu390Val) c.1438C>G (p.Leu480Val) c.916C>G (p.Leu306Val) c.1480C>G (p.Leu494Val) c.649C>G (p.Leu217Val) | |
| 12 | g.51920819C>T | CA384905700 | ACVRL1 | c.1168C>T (p.Leu390Phe) c.1438C>T (p.Leu480Phe) c.916C>T (p.Leu306Phe) c.1480C>T (p.Leu494Phe) c.649C>T (p.Leu217Phe) | ClinVar |
| 12 | g.51920820T>A | CA384905709 | ACVRL1 | c.1169T>A (p.Leu390His) c.1439T>A (p.Leu480His) c.917T>A (p.Leu306His) c.1481T>A (p.Leu494His) c.650T>A (p.Leu217His) | |
| 12 | g.51920820T>C | CA384905710 | ACVRL1 | c.1169T>C (p.Leu390Pro) c.1439T>C (p.Leu480Pro) c.917T>C (p.Leu306Pro) c.1481T>C (p.Leu494Pro) c.650T>C (p.Leu217Pro) | |
| 12 | g.51920820T>G | CA384905711 | ACVRL1 | c.1169T>G (p.Leu390Arg) c.1439T>G (p.Leu480Arg) c.917T>G (p.Leu306Arg) c.1481T>G (p.Leu494Arg) c.650T>G (p.Leu217Arg) | |
| 12 | g.51920820_51920887del | CA2695216730 | ACVRL1 | c.1169_1236del (p.Leu390ProfsTer?) c.1439_1506del (p.Leu480ProfsTer?) c.917_984del (p.Leu306ProfsTer?) c.1481_1548del (p.Leu494ProfsTer?) c.650_717del (p.Leu217ProfsTer?) | |
| 12 | g.51920821C>A | CA479816728 | ACVRL1 | c.1170C>A (p.Leu390=) c.1440C>A (p.Leu480=) c.918C>A (p.Leu306=) c.1482C>A (p.Leu494=) c.651C>A (p.Leu217=) | |
| 12 | g.51920821C= | CA2036241835 | ACVRL1 | c.1170C= (p.Leu390=) c.1440C= (p.Leu480=) c.918C= (p.Leu306=) c.1482C= (p.Leu494=) c.651C= (p.Leu217=) | |
| 12 | g.51920821C>G | CA479816734 | ACVRL1 | c.1170C>G (p.Leu390=) c.1440C>G (p.Leu480=) c.918C>G (p.Leu306=) c.1482C>G (p.Leu494=) c.651C>G (p.Leu217=) | |
| 12 | g.51920821C>T | CA236367754 | ACVRL1 | c.1170C>T (p.Leu390=) c.1440C>T (p.Leu480=) c.918C>T (p.Leu306=) c.1482C>T (p.Leu494=) c.651C>T (p.Leu217=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920822A>C | CA384905712 | ACVRL1 | c.1171A>C (p.Thr391Pro) c.1441A>C (p.Thr481Pro) c.919A>C (p.Thr307Pro) c.1483A>C (p.Thr495Pro) c.652A>C (p.Thr218Pro) | |
| 12 | g.51920822A>G | CA384905713 | ACVRL1 | c.1171A>G (p.Thr391Ala) c.1441A>G (p.Thr481Ala) c.919A>G (p.Thr307Ala) c.1483A>G (p.Thr495Ala) c.652A>G (p.Thr218Ala) | |
| 12 | g.51920822A>T | CA384905722 | ACVRL1 | c.1171A>T (p.Thr391Ser) c.1441A>T (p.Thr481Ser) c.919A>T (p.Thr307Ser) c.1483A>T (p.Thr495Ser) c.652A>T (p.Thr218Ser) | |
| 12 | g.51920823C>A | CA384905725 | ACVRL1 | c.1172C>A (p.Thr391Asn) c.1442C>A (p.Thr481Asn) c.920C>A (p.Thr307Asn) c.1484C>A (p.Thr495Asn) c.653C>A (p.Thr218Asn) | |
| 12 | g.51920823C>G | CA384905727 | ACVRL1 | c.1172C>G (p.Thr391Ser) c.1442C>G (p.Thr481Ser) c.920C>G (p.Thr307Ser) c.1484C>G (p.Thr495Ser) c.653C>G (p.Thr218Ser) | |
| 12 | g.51920823C>T | CA384905729 | ACVRL1 | c.1172C>T (p.Thr391Ile) c.1442C>T (p.Thr481Ile) c.920C>T (p.Thr307Ile) c.1484C>T (p.Thr495Ile) c.653C>T (p.Thr218Ile) | ClinVar |
| 12 | g.51920824C>A | CA479816784 | ACVRL1 | c.1173C>A (p.Thr391=) c.1443C>A (p.Thr481=) c.921C>A (p.Thr307=) c.1485C>A (p.Thr495=) c.654C>A (p.Thr218=) | |
| 12 | g.51920824C= | CA2036241840 | ACVRL1 | c.1173C= (p.Thr391=) c.1443C= (p.Thr481=) c.921C= (p.Thr307=) c.1485C= (p.Thr495=) c.654C= (p.Thr218=) | |
| 12 | g.51920824C>G | CA479816780 | ACVRL1 | c.1173C>G (p.Thr391=) c.1443C>G (p.Thr481=) c.921C>G (p.Thr307=) c.1485C>G (p.Thr495=) c.654C>G (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920824C>T | CA479816777 | ACVRL1 | c.1173C>T (p.Thr391=) c.1443C>T (p.Thr481=) c.921C>T (p.Thr307=) c.1485C>T (p.Thr495=) c.654C>T (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>A | CA6573177 | ACVRL1 | c.1174G>A (p.Ala392Thr) c.1444G>A (p.Ala482Thr) c.922G>A (p.Ala308Thr) c.1486G>A (p.Ala496Thr) c.655G>A (p.Ala219Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920825G>C | CA384905733 | ACVRL1 | c.1174G>C (p.Ala392Pro) c.1444G>C (p.Ala482Pro) c.922G>C (p.Ala308Pro) c.1486G>C (p.Ala496Pro) c.655G>C (p.Ala219Pro) | ClinVar |
| 12 | g.51920825G= | CA2036241844 | ACVRL1 | c.1174G= (p.Ala392=) c.1444G= (p.Ala482=) c.922G= (p.Ala308=) c.1486G= (p.Ala496=) c.655G= (p.Ala219=) | |
| 12 | g.51920825G>T | CA384905738 | ACVRL1 | c.1174G>T (p.Ala392Ser) c.1444G>T (p.Ala482Ser) c.922G>T (p.Ala308Ser) c.1486G>T (p.Ala496Ser) c.655G>T (p.Ala219Ser) | |
| 12 | g.51920826C>A | CA384905746 | ACVRL1 | c.1175C>A (p.Ala392Glu) c.1445C>A (p.Ala482Glu) c.923C>A (p.Ala308Glu) c.1487C>A (p.Ala496Glu) c.656C>A (p.Ala219Glu) | ClinVar |
| 12 | g.51920826C= | CA2036241849 | ACVRL1 | c.1175C= (p.Ala392=) c.1445C= (p.Ala482=) c.923C= (p.Ala308=) c.1487C= (p.Ala496=) c.656C= (p.Ala219=) | |
| 12 | g.51920826C>G | CA384905751 | ACVRL1 | c.1175C>G (p.Ala392Gly) c.1445C>G (p.Ala482Gly) c.923C>G (p.Ala308Gly) c.1487C>G (p.Ala496Gly) c.656C>G (p.Ala219Gly) | |
| 12 | g.51920826C>T | CA211324 | ACVRL1 | c.1175C>T (p.Ala392Val) c.1445C>T (p.Ala482Val) c.923C>T (p.Ala308Val) c.1487C>T (p.Ala496Val) c.656C>T (p.Ala219Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>A | CA236367761 | ACVRL1 | c.1176G>A (p.Ala392=) c.1446G>A (p.Ala482=) c.924G>A (p.Ala308=) c.1488G>A (p.Ala496=) c.657G>A (p.Ala219=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920827G>C | CA479816815 | ACVRL1 | c.1176G>C (p.Ala392=) c.1446G>C (p.Ala482=) c.924G>C (p.Ala308=) c.1488G>C (p.Ala496=) c.657G>C (p.Ala219=) | |
| 12 | g.51920827G= | CA2036241858 | ACVRL1 | c.1176G= (p.Ala392=) c.1446G= (p.Ala482=) c.924G= (p.Ala308=) c.1488G= (p.Ala496=) c.657G= (p.Ala219=) | |
| 12 | g.51920827G>T | CA479816819 | ACVRL1 | c.1176G>T (p.Ala392=) c.1446G>T (p.Ala482=) c.924G>T (p.Ala308=) c.1488G>T (p.Ala496=) c.657G>T (p.Ala219=) | gnomAD v4 |
| 12 | g.51920828C>A | CA384905760 | ACVRL1 | c.1177C>A (p.Leu393Met) c.1447C>A (p.Leu483Met) c.925C>A (p.Leu309Met) c.1489C>A (p.Leu497Met) c.658C>A (p.Leu220Met) | |
| 12 | g.51920828C>G | CA384905770 | ACVRL1 | c.1177C>G (p.Leu393Val) c.1447C>G (p.Leu483Val) c.925C>G (p.Leu309Val) c.1489C>G (p.Leu497Val) c.658C>G (p.Leu220Val) | |
| 12 | g.51920828C>T | CA479816825 | ACVRL1 | c.1177C>T (p.Leu393=) c.1447C>T (p.Leu483=) c.925C>T (p.Leu309=) c.1489C>T (p.Leu497=) c.658C>T (p.Leu220=) | |
| 12 | g.51920828_51920829delinsCT | CA2036241867 | ACVRL1 | c.1177_1178delinsCT (p.Leu393=) c.1447_1448delinsCT (p.Leu483=) c.925_926delinsCT (p.Leu309=) c.1489_1490delinsCT (p.Leu497=) c.658_659delinsCT (p.Leu220=) | |
| 12 | g.51920829del | CA1139662711 | ACVRL1 | c.1178del (p.Leu393ArgfsTer19) c.1448del (p.Leu483ArgfsTer19) c.926del (p.Leu309ArgfsTer19) c.1490del (p.Leu497ArgfsTer19) c.659del (p.Leu220ArgfsTer19) | ClinVar dbSNP |
| 12 | g.51920829T>A | CA384905774 | ACVRL1 | c.1178T>A (p.Leu393Gln) c.1448T>A (p.Leu483Gln) c.926T>A (p.Leu309Gln) c.1490T>A (p.Leu497Gln) c.659T>A (p.Leu220Gln) | |
| 12 | g.51920829T>C | CA384905784 | ACVRL1 | c.1178T>C (p.Leu393Pro) c.1448T>C (p.Leu483Pro) c.926T>C (p.Leu309Pro) c.1490T>C (p.Leu497Pro) c.659T>C (p.Leu220Pro) | |
| 12 | g.51920829T>G | CA384905789 | ACVRL1 | c.1178T>G (p.Leu393Arg) c.1448T>G (p.Leu483Arg) c.926T>G (p.Leu309Arg) c.1490T>G (p.Leu497Arg) c.659T>G (p.Leu220Arg) | ClinVar dbSNP |
| 12 | g.51920829T= | CA2036241874 | ACVRL1 | c.1178T= (p.Leu393=) c.1448T= (p.Leu483=) c.926T= (p.Leu309=) c.1490T= (p.Leu497=) c.659T= (p.Leu220=) | |
| 12 | g.51920830G>A | CA479816836 | ACVRL1 | c.1179G>A (p.Leu393=) c.1449G>A (p.Leu483=) c.927G>A (p.Leu309=) c.1491G>A (p.Leu497=) c.660G>A (p.Leu220=) | |
| 12 | g.51920830G>C | CA479816858 | ACVRL1 | c.1179G>C (p.Leu393=) c.1449G>C (p.Leu483=) c.927G>C (p.Leu309=) c.1491G>C (p.Leu497=) c.660G>C (p.Leu220=) | gnomAD v4 |
| 12 | g.51920830G>T | CA479816851 | ACVRL1 | c.1179G>T (p.Leu393=) c.1449G>T (p.Leu483=) c.927G>T (p.Leu309=) c.1491G>T (p.Leu497=) c.660G>T (p.Leu220=) | |
| 12 | g.51920830_51920831delinsGC | CA2036241879 | ACVRL1 | c.1179_1180delinsGC (p.Leu393=) c.1449_1450delinsGC (p.Leu483=) c.927_928delinsGC (p.Leu309=) c.1491_1492delinsGC (p.Leu497=) c.660_661delinsGC (p.Leu220=) | |
| 12 | g.51920831_51920833dup | CA2695216732 | ACVRL1 | c.1180_1182dup (p.Arg394_Ile395insArg) c.1450_1452dup (p.Arg484_Ile485insArg) c.928_930dup (p.Arg310_Ile311insArg) c.1492_1494dup (p.Arg498_Ile499insArg) c.661_663dup (p.Arg221_Ile222insArg) | |
| 12 | g.51920831C>A | CA479816861 | ACVRL1 | c.1180C>A (p.Arg394=) c.1450C>A (p.Arg484=) c.928C>A (p.Arg310=) c.1492C>A (p.Arg498=) c.661C>A (p.Arg221=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920831C= | CA2036241893 | ACVRL1 | c.1180C= (p.Arg394=) c.1450C= (p.Arg484=) c.928C= (p.Arg310=) c.1492C= (p.Arg498=) c.661C= (p.Arg221=) | |
| 12 | g.51920831C>G | CA384905800 | ACVRL1 | c.1180C>G (p.Arg394Gly) c.1450C>G (p.Arg484Gly) c.928C>G (p.Arg310Gly) c.1492C>G (p.Arg498Gly) c.661C>G (p.Arg221Gly) | ClinVar dbSNP |
| 12 | g.51920831C>T | CA119404 | ACVRL1 | c.1180C>T (p.Arg394Trp) c.1450C>T (p.Arg484Trp) c.928C>T (p.Arg310Trp) c.1492C>T (p.Arg498Trp) c.661C>T (p.Arg221Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920831delinsTG | CA645294072 | ACVRL1 | c.1180delinsTG (p.Arg394TrpfsTer10) c.1450delinsTG (p.Arg484TrpfsTer10) c.928delinsTG (p.Arg310TrpfsTer10) c.1492delinsTG (p.Arg498TrpfsTer10) c.661delinsTG (p.Arg221TrpfsTer10) | ClinVar dbSNP |
| 12 | g.51920832G>A | CA323134 | ACVRL1 | c.1181G>A (p.Arg394Gln) c.1451G>A (p.Arg484Gln) c.929G>A (p.Arg310Gln) c.1493G>A (p.Arg498Gln) c.662G>A (p.Arg221Gln) | ClinVar dbSNP |
| 12 | g.51920832G>C | CA384905812 | ACVRL1 | c.1181G>C (p.Arg394Pro) c.1451G>C (p.Arg484Pro) c.929G>C (p.Arg310Pro) c.1493G>C (p.Arg498Pro) c.662G>C (p.Arg221Pro) | ClinVar dbSNP |
| 12 | g.51920832G= | CA2036241910 | ACVRL1 | c.1181G= (p.Arg394=) c.1451G= (p.Arg484=) c.929G= (p.Arg310=) c.1493G= (p.Arg498=) c.662G= (p.Arg221=) | |
| 12 | g.51920832G>T | CA384905817 | ACVRL1 | c.1181G>T (p.Arg394Leu) c.1451G>T (p.Arg484Leu) c.929G>T (p.Arg310Leu) c.1493G>T (p.Arg498Leu) c.662G>T (p.Arg221Leu) | ClinVar dbSNP |
| 12 | g.51920833G>A | CA479816896 | ACVRL1 | c.1182G>A (p.Arg394=) c.1452G>A (p.Arg484=) c.930G>A (p.Arg310=) c.1494G>A (p.Arg498=) c.663G>A (p.Arg221=) | |
| 12 | g.51920833G>C | CA479816900 | ACVRL1 | c.1182G>C (p.Arg394=) c.1452G>C (p.Arg484=) c.930G>C (p.Arg310=) c.1494G>C (p.Arg498=) c.663G>C (p.Arg221=) | |
| 12 | g.51920833G>T | CA479816903 | ACVRL1 | c.1182G>T (p.Arg394=) c.1452G>T (p.Arg484=) c.930G>T (p.Arg310=) c.1494G>T (p.Arg498=) c.663G>T (p.Arg221=) | |
| 12 | g.51920834A= | CA2036241914 | ACVRL1 | c.1183A= (p.Ile395=) c.1453A= (p.Ile485=) c.931A= (p.Ile311=) c.1495A= (p.Ile499=) c.664A= (p.Ile222=) | |
| 12 | g.51920834A>C | CA384905820 | ACVRL1 | c.1183A>C (p.Ile395Leu) c.1453A>C (p.Ile485Leu) c.931A>C (p.Ile311Leu) c.1495A>C (p.Ile499Leu) c.664A>C (p.Ile222Leu) | |
| 12 | g.51920834A>G | CA384905830 | ACVRL1 | c.1183A>G (p.Ile395Val) c.1453A>G (p.Ile485Val) c.931A>G (p.Ile311Val) c.1495A>G (p.Ile499Val) c.664A>G (p.Ile222Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920834A>T | CA384905831 | ACVRL1 | c.1183A>T (p.Ile395Phe) c.1453A>T (p.Ile485Phe) c.931A>T (p.Ile311Phe) c.1495A>T (p.Ile499Phe) c.664A>T (p.Ile222Phe) | |
| 12 | g.51920834dup | CA2695216734 | ACVRL1 | c.1183dup (p.Ile395AsnfsTer9) c.1453dup (p.Ile485AsnfsTer9) c.931dup (p.Ile311AsnfsTer9) c.1495dup (p.Ile499AsnfsTer9) c.664dup (p.Ile222AsnfsTer9) | |
| 12 | g.51920835T>A | CA384905835 | ACVRL1 | c.1184T>A (p.Ile395Asn) c.1454T>A (p.Ile485Asn) c.932T>A (p.Ile311Asn) c.1496T>A (p.Ile499Asn) c.665T>A (p.Ile222Asn) | |
| 12 | g.51920835T>C | CA384905843 | ACVRL1 | c.1184T>C (p.Ile395Thr) c.1454T>C (p.Ile485Thr) c.932T>C (p.Ile311Thr) c.1496T>C (p.Ile499Thr) c.665T>C (p.Ile222Thr) | |
| 12 | g.51920835T>G | CA384905841 | ACVRL1 | c.1184T>G (p.Ile395Ser) c.1454T>G (p.Ile485Ser) c.932T>G (p.Ile311Ser) c.1496T>G (p.Ile499Ser) c.665T>G (p.Ile222Ser) | |
| 12 | g.51920836C>A | CA479816923 | ACVRL1 | c.1185C>A (p.Ile395=) c.1455C>A (p.Ile485=) c.933C>A (p.Ile311=) c.1497C>A (p.Ile499=) c.666C>A (p.Ile222=) | gnomAD v4 |
| 12 | g.51920836C>G | CA384905846 | ACVRL1 | c.1185C>G (p.Ile395Met) c.1455C>G (p.Ile485Met) c.933C>G (p.Ile311Met) c.1497C>G (p.Ile499Met) c.666C>G (p.Ile222Met) | |
| 12 | g.51920836C>T | CA479816929 | ACVRL1 | c.1185C>T (p.Ile395=) c.1455C>T (p.Ile485=) c.933C>T (p.Ile311=) c.1497C>T (p.Ile499=) c.666C>T (p.Ile222=) | |
| 12 | g.51920836_51920839delinsCAAG | CA2036241918 | ACVRL1 | c.1185_1188delinsCAAG (p.Ile395=) c.1455_1458delinsCAAG (p.Ile485=) c.933_936delinsCAAG (p.Ile311=) c.1497_1500delinsCAAG (p.Ile499=) c.666_669delinsCAAG (p.Ile222=) | |
| 12 | g.51920837A= | CA2036241922 | ACVRL1 | c.1186A= (p.Lys396=) c.1456A= (p.Lys486=) c.934A= (p.Lys312=) c.1498A= (p.Lys500=) c.667A= (p.Lys223=) | |
| 12 | g.51920837A>C | CA384905848 | ACVRL1 | c.1186A>C (p.Lys396Gln) c.1456A>C (p.Lys486Gln) c.934A>C (p.Lys312Gln) c.1498A>C (p.Lys500Gln) c.667A>C (p.Lys223Gln) | |
| 12 | g.51920837A>G | CA236367781 | ACVRL1 | c.1186A>G (p.Lys396Glu) c.1456A>G (p.Lys486Glu) c.934A>G (p.Lys312Glu) c.1498A>G (p.Lys500Glu) c.667A>G (p.Lys223Glu) | ClinVar dbSNP |
| 12 | g.51920837A>T | CA384905872 | ACVRL1 | c.1186A>T (p.Lys396Ter) c.1456A>T (p.Lys486Ter) c.934A>T (p.Lys312Ter) c.1498A>T (p.Lys500Ter) c.667A>T (p.Lys223Ter) | |
| 12 | g.51920841_51920843del | CA2036241920 | ACVRL1 | c.1190_1192del (p.Lys397del) c.1460_1462del (p.Lys487del) c.938_940del (p.Lys313del) c.1502_1504del (p.Lys501del) c.671_673del (p.Lys224del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920838A>C | CA384905876 | ACVRL1 | c.1187A>C (p.Lys396Thr) c.1457A>C (p.Lys486Thr) c.935A>C (p.Lys312Thr) c.1499A>C (p.Lys500Thr) c.668A>C (p.Lys223Thr) | |
| 12 | g.51920838A>G | CA384905883 | ACVRL1 | c.1187A>G (p.Lys396Arg) c.1457A>G (p.Lys486Arg) c.935A>G (p.Lys312Arg) c.1499A>G (p.Lys500Arg) c.668A>G (p.Lys223Arg) | |
| 12 | g.51920838A>T | CA384905885 | ACVRL1 | c.1187A>T (p.Lys396Met) c.1457A>T (p.Lys486Met) c.935A>T (p.Lys312Met) c.1499A>T (p.Lys500Met) c.668A>T (p.Lys223Met) | |
| 12 | g.51920839G>A | CA479816953 | ACVRL1 | c.1188G>A (p.Lys396=) c.1458G>A (p.Lys486=) c.936G>A (p.Lys312=) c.1500G>A (p.Lys500=) c.669G>A (p.Lys223=) | |
| 12 | g.51920839G>C | CA384905888 | ACVRL1 | c.1188G>C (p.Lys396Asn) c.1458G>C (p.Lys486Asn) c.936G>C (p.Lys312Asn) c.1500G>C (p.Lys500Asn) c.669G>C (p.Lys223Asn) | |
| 12 | g.51920839G>T | CA384905890 | ACVRL1 | c.1188G>T (p.Lys396Asn) c.1458G>T (p.Lys486Asn) c.936G>T (p.Lys312Asn) c.1500G>T (p.Lys500Asn) c.669G>T (p.Lys223Asn) | |
| 12 | g.51920840A= | CA2036241927 | ACVRL1 | c.1189A= (p.Lys397=) c.1459A= (p.Lys487=) c.937A= (p.Lys313=) c.1501A= (p.Lys501=) c.670A= (p.Lys224=) | |
| 12 | g.51920840A>C | CA384905893 | ACVRL1 | c.1189A>C (p.Lys397Gln) c.1459A>C (p.Lys487Gln) c.937A>C (p.Lys313Gln) c.1501A>C (p.Lys501Gln) c.670A>C (p.Lys224Gln) | ClinVar dbSNP |
| 12 | g.51920840A>G | CA384905894 | ACVRL1 | c.1189A>G (p.Lys397Glu) c.1459A>G (p.Lys487Glu) c.937A>G (p.Lys313Glu) c.1501A>G (p.Lys501Glu) c.670A>G (p.Lys224Glu) | ClinVar dbSNP |
| 12 | g.51920840A>T | CA384905895 | ACVRL1 | c.1189A>T (p.Lys397Ter) c.1459A>T (p.Lys487Ter) c.937A>T (p.Lys313Ter) c.1501A>T (p.Lys501Ter) c.670A>T (p.Lys224Ter) | |
| 12 | g.51920841A= | CA2036241937 | ACVRL1 | c.1190A= (p.Lys397=) c.1460A= (p.Lys487=) c.938A= (p.Lys313=) c.1502A= (p.Lys501=) c.671A= (p.Lys224=) | |
| 12 | g.51920841A>C | CA384905912 | ACVRL1 | c.1190A>C (p.Lys397Thr) c.1460A>C (p.Lys487Thr) c.938A>C (p.Lys313Thr) c.1502A>C (p.Lys501Thr) c.671A>C (p.Lys224Thr) | ClinVar dbSNP |
| 12 | g.51920841A>G | CA384905897 | ACVRL1 | c.1190A>G (p.Lys397Arg) c.1460A>G (p.Lys487Arg) c.938A>G (p.Lys313Arg) c.1502A>G (p.Lys501Arg) c.671A>G (p.Lys224Arg) | |
| 12 | g.51920841A>T | CA384905896 | ACVRL1 | c.1190A>T (p.Lys397Met) c.1460A>T (p.Lys487Met) c.938A>T (p.Lys313Met) c.1502A>T (p.Lys501Met) c.671A>T (p.Lys224Met) | |
| 12 | g.51920842G>A | CA479816970 | ACVRL1 | c.1191G>A (p.Lys397=) c.1461G>A (p.Lys487=) c.939G>A (p.Lys313=) c.1503G>A (p.Lys501=) c.672G>A (p.Lys224=) | |
| 12 | g.51920842G>C | CA384905915 | ACVRL1 | c.1191G>C (p.Lys397Asn) c.1461G>C (p.Lys487Asn) c.939G>C (p.Lys313Asn) c.1503G>C (p.Lys501Asn) c.672G>C (p.Lys224Asn) | |
| 12 | g.51920842G>T | CA384905917 | ACVRL1 | c.1191G>T (p.Lys397Asn) c.1461G>T (p.Lys487Asn) c.939G>T (p.Lys313Asn) c.1503G>T (p.Lys501Asn) c.672G>T (p.Lys224Asn) | |
| 12 | g.51920843A>C | CA384905926 | ACVRL1 | c.1192A>C (p.Thr398Pro) c.1462A>C (p.Thr488Pro) c.940A>C (p.Thr314Pro) c.1504A>C (p.Thr502Pro) c.673A>C (p.Thr225Pro) | |
| 12 | g.51920843A>G | CA384905928 | ACVRL1 | c.1192A>G (p.Thr398Ala) c.1462A>G (p.Thr488Ala) c.940A>G (p.Thr314Ala) c.1504A>G (p.Thr502Ala) c.673A>G (p.Thr225Ala) | |
| 12 | g.51920843A>T | CA384905947 | ACVRL1 | c.1192A>T (p.Thr398Ser) c.1462A>T (p.Thr488Ser) c.940A>T (p.Thr314Ser) c.1504A>T (p.Thr502Ser) c.673A>T (p.Thr225Ser) | |
| 12 | g.51920844C>A | CA384905961 | ACVRL1 | c.1193C>A (p.Thr398Lys) c.1463C>A (p.Thr488Lys) c.941C>A (p.Thr314Lys) c.1505C>A (p.Thr502Lys) c.674C>A (p.Thr225Lys) | |
| 12 | g.51920844C>G | CA384905966 | ACVRL1 | c.1193C>G (p.Thr398Arg) c.1463C>G (p.Thr488Arg) c.941C>G (p.Thr314Arg) c.1505C>G (p.Thr502Arg) c.674C>G (p.Thr225Arg) | |
| 12 | g.51920844C>T | CA384905975 | ACVRL1 | c.1193C>T (p.Thr398Ile) c.1463C>T (p.Thr488Ile) c.941C>T (p.Thr314Ile) c.1505C>T (p.Thr502Ile) c.674C>T (p.Thr225Ile) | |
| 12 | g.51920845A= | CA2036241942 | ACVRL1 | c.1194A= (p.Thr398=) c.1464A= (p.Thr488=) c.942A= (p.Thr314=) c.1506A= (p.Thr502=) c.675A= (p.Thr225=) | |
| 12 | g.51920845A>C | CA479817004 | ACVRL1 | c.1194A>C (p.Thr398=) c.1464A>C (p.Thr488=) c.942A>C (p.Thr314=) c.1506A>C (p.Thr502=) c.675A>C (p.Thr225=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920845A>G | CA479816997 | ACVRL1 | c.1194A>G (p.Thr398=) c.1464A>G (p.Thr488=) c.942A>G (p.Thr314=) c.1506A>G (p.Thr502=) c.675A>G (p.Thr225=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920845A>T | CA479817000 | ACVRL1 | c.1194A>T (p.Thr398=) c.1464A>T (p.Thr488=) c.942A>T (p.Thr314=) c.1506A>T (p.Thr502=) c.675A>T (p.Thr225=) | |
| 12 | g.51920846C>A | CA384906000 | ACVRL1 | c.1195C>A (p.Leu399Ile) c.1465C>A (p.Leu489Ile) c.943C>A (p.Leu315Ile) c.1507C>A (p.Leu503Ile) c.676C>A (p.Leu226Ile) | ClinVar dbSNP |
| 12 | g.51920846C= | CA2036241945 | ACVRL1 | c.1195C= (p.Leu399=) c.1465C= (p.Leu489=) c.943C= (p.Leu315=) c.1507C= (p.Leu503=) c.676C= (p.Leu226=) | |
| 12 | g.51920846C>G | CA384905980 | ACVRL1 | c.1195C>G (p.Leu399Val) c.1465C>G (p.Leu489Val) c.943C>G (p.Leu315Val) c.1507C>G (p.Leu503Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
| 12 | g.51920846C>T | CA479817013 | ACVRL1 | c.1195C>T (p.Leu399=) c.1465C>T (p.Leu489=) c.943C>T (p.Leu315=) c.1507C>T (p.Leu503=) c.676C>T (p.Leu226=) | |
| 12 | g.51920847T>A | CA384906007 | ACVRL1 | c.1196T>A (p.Leu399Gln) c.1466T>A (p.Leu489Gln) c.944T>A (p.Leu315Gln) c.1508T>A (p.Leu503Gln) c.677T>A (p.Leu226Gln) | |
| 12 | g.51920847T>C | CA16606658 | ACVRL1 | c.1196T>C (p.Leu399Pro) c.1466T>C (p.Leu489Pro) c.944T>C (p.Leu315Pro) c.1508T>C (p.Leu503Pro) c.677T>C (p.Leu226Pro) | ClinVar dbSNP |
| 12 | g.51920847T>G | CA384906009 | ACVRL1 | c.1196T>G (p.Leu399Arg) c.1466T>G (p.Leu489Arg) c.944T>G (p.Leu315Arg) c.1508T>G (p.Leu503Arg) c.677T>G (p.Leu226Arg) | |
| 12 | g.51920847T= | CA2036241949 | ACVRL1 | c.1196T= (p.Leu399=) c.1466T= (p.Leu489=) c.944T= (p.Leu315=) c.1508T= (p.Leu503=) c.677T= (p.Leu226=) | |
| 12 | g.51920848A>C | CA479817030 | ACVRL1 | c.1197A>C (p.Leu399=) c.1467A>C (p.Leu489=) c.945A>C (p.Leu315=) c.1509A>C (p.Leu503=) c.678A>C (p.Leu226=) | |
| 12 | g.51920848A>G | CA479817038 | ACVRL1 | c.1197A>G (p.Leu399=) c.1467A>G (p.Leu489=) c.945A>G (p.Leu315=) c.1509A>G (p.Leu503=) c.678A>G (p.Leu226=) | ClinVar gnomAD v4 |
| 12 | g.51920848A>T | CA479817042 | ACVRL1 | c.1197A>T (p.Leu399=) c.1467A>T (p.Leu489=) c.945A>T (p.Leu315=) c.1509A>T (p.Leu503=) c.678A>T (p.Leu226=) | |
| 12 | g.51920849C>A | CA384906010 | ACVRL1 | c.1198C>A (p.Gln400Lys) c.1468C>A (p.Gln490Lys) c.946C>A (p.Gln316Lys) c.1510C>A (p.Gln504Lys) c.679C>A (p.Gln227Lys) | |
| 12 | g.51920849C= | CA2036241958 | ACVRL1 | c.1198C= (p.Gln400=) c.1468C= (p.Gln490=) c.946C= (p.Gln316=) c.1510C= (p.Gln504=) c.679C= (p.Gln227=) | |
| 12 | g.51920849C>G | CA384906011 | ACVRL1 | c.1198C>G (p.Gln400Glu) c.1468C>G (p.Gln490Glu) c.946C>G (p.Gln316Glu) c.1510C>G (p.Gln504Glu) c.679C>G (p.Gln227Glu) | |
| 12 | g.51920849C>T | CA384906013 | ACVRL1 | c.1198C>T (p.Gln400Ter) c.1468C>T (p.Gln490Ter) c.946C>T (p.Gln316Ter) c.1510C>T (p.Gln504Ter) c.679C>T (p.Gln227Ter) | ClinVar dbSNP |
| 12 | g.51920850A>C | CA384906021 | ACVRL1 | c.1199A>C (p.Gln400Pro) c.1469A>C (p.Gln490Pro) c.947A>C (p.Gln316Pro) c.1511A>C (p.Gln504Pro) c.680A>C (p.Gln227Pro) | |
| 12 | g.51920850A>G | CA384906018 | ACVRL1 | c.1199A>G (p.Gln400Arg) c.1469A>G (p.Gln490Arg) c.947A>G (p.Gln316Arg) c.1511A>G (p.Gln504Arg) c.680A>G (p.Gln227Arg) | |
| 12 | g.51920850A>T | CA384906019 | ACVRL1 | c.1199A>T (p.Gln400Leu) c.1469A>T (p.Gln490Leu) c.947A>T (p.Gln316Leu) c.1511A>T (p.Gln504Leu) c.680A>T (p.Gln227Leu) | gnomAD v4 |
| 12 | g.51920855del | CA645594556 | ACVRL1 | c.1204del (p.Ile402LeufsTer10) c.1474del (p.Ile492LeufsTer10) c.952del (p.Ile318LeufsTer10) c.1516del (p.Ile506LeufsTer10) c.685del (p.Ile229LeufsTer10) | COSMIC COSMIC |
| 12 | g.51920851A= | CA2036241963 | ACVRL1 | c.1200A= (p.Gln400=) c.1470A= (p.Gln490=) c.948A= (p.Gln316=) c.1512A= (p.Gln504=) c.681A= (p.Gln227=) | |
| 12 | g.51920851A>C | CA384906025 | ACVRL1 | c.1200A>C (p.Gln400His) c.1470A>C (p.Gln490His) c.948A>C (p.Gln316His) c.1512A>C (p.Gln504His) c.681A>C (p.Gln227His) | gnomAD v4 |
| 12 | g.51920851A>G | CA479817075 | ACVRL1 | c.1200A>G (p.Gln400=) c.1470A>G (p.Gln490=) c.948A>G (p.Gln316=) c.1512A>G (p.Gln504=) c.681A>G (p.Gln227=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920851A>T | CA384906028 | ACVRL1 | c.1200A>T (p.Gln400His) c.1470A>T (p.Gln490His) c.948A>T (p.Gln316His) c.1512A>T (p.Gln504His) c.681A>T (p.Gln227His) | |
| 12 | g.51920852A>C | CA384906032 | ACVRL1 | c.1201A>C (p.Lys401Gln) c.1471A>C (p.Lys491Gln) c.949A>C (p.Lys317Gln) c.1513A>C (p.Lys505Gln) c.682A>C (p.Lys228Gln) | |
| 12 | g.51920852A>G | CA384906034 | ACVRL1 | c.1201A>G (p.Lys401Glu) c.1471A>G (p.Lys491Glu) c.949A>G (p.Lys317Glu) c.1513A>G (p.Lys505Glu) c.682A>G (p.Lys228Glu) | |
| 12 | g.51920852A>T | CA384906035 | ACVRL1 | c.1201A>T (p.Lys401Ter) c.1471A>T (p.Lys491Ter) c.949A>T (p.Lys317Ter) c.1513A>T (p.Lys505Ter) c.682A>T (p.Lys228Ter) | |
| 12 | g.51920853A= | CA2036241966 | ACVRL1 | c.1202A= (p.Lys401=) c.1472A= (p.Lys491=) c.950A= (p.Lys317=) c.1514A= (p.Lys505=) c.683A= (p.Lys228=) | |
| 12 | g.51920853A>C | CA384906037 | ACVRL1 | c.1202A>C (p.Lys401Thr) c.1472A>C (p.Lys491Thr) c.950A>C (p.Lys317Thr) c.1514A>C (p.Lys505Thr) c.683A>C (p.Lys228Thr) | |
| 12 | g.51920853A>G | CA384906039 | ACVRL1 | c.1202A>G (p.Lys401Arg) c.1472A>G (p.Lys491Arg) c.950A>G (p.Lys317Arg) c.1514A>G (p.Lys505Arg) c.683A>G (p.Lys228Arg) | |
| 12 | g.51920853A>T | CA384906043 | ACVRL1 | c.1202A>T (p.Lys401Ile) c.1472A>T (p.Lys491Ile) c.950A>T (p.Lys317Ile) c.1514A>T (p.Lys505Ile) c.683A>T (p.Lys228Ile) | |
| 12 | g.51920854A>C | CA384906059 | ACVRL1 | c.1203A>C (p.Lys401Asn) c.1473A>C (p.Lys491Asn) c.951A>C (p.Lys317Asn) c.1515A>C (p.Lys505Asn) c.684A>C (p.Lys228Asn) | |
| 12 | g.51920854A>G | CA479817089 | ACVRL1 | c.1203A>G (p.Lys401=) c.1473A>G (p.Lys491=) c.951A>G (p.Lys317=) c.1515A>G (p.Lys505=) c.684A>G (p.Lys228=) | |
| 12 | g.51920854A>T | CA384906067 | ACVRL1 | c.1203A>T (p.Lys401Asn) c.1473A>T (p.Lys491Asn) c.951A>T (p.Lys317Asn) c.1515A>T (p.Lys505Asn) c.684A>T (p.Lys228Asn) | |
| 12 | g.51920855A>C | CA384906071 | ACVRL1 | c.1204A>C (p.Ile402Leu) c.1474A>C (p.Ile492Leu) c.952A>C (p.Ile318Leu) c.1516A>C (p.Ile506Leu) c.685A>C (p.Ile229Leu) | |
| 12 | g.51920855A>G | CA384906072 | ACVRL1 | c.1204A>G (p.Ile402Val) c.1474A>G (p.Ile492Val) c.952A>G (p.Ile318Val) c.1516A>G (p.Ile506Val) c.685A>G (p.Ile229Val) | |
| 12 | g.51920855A>T | CA384906075 | ACVRL1 | c.1204A>T (p.Ile402Phe) c.1474A>T (p.Ile492Phe) c.952A>T (p.Ile318Phe) c.1516A>T (p.Ile506Phe) c.685A>T (p.Ile229Phe) | |
| 12 | g.51920855_51920856insAACCAAACACACCCAACACA | CA2795983804 | ACVRL1 | c.1204_1205insAACCAAACACACCCAACACA (p.Ile402LysfsTer17) c.1474_1475insAACCAAACACACCCAACACA (p.Ile492LysfsTer17) c.952_953insAACCAAACACACCCAACACA (p.Ile318LysfsTer17) c.1516_1517insAACCAAACACACCCAACACA (p.Ile506LysfsTer17) c.685_686insAACCAAACACACCCAACACA (p.Ile229LysfsTer17) | |
| 12 | g.51920856T>A | CA384906088 | ACVRL1 | c.1205T>A (p.Ile402Asn) c.1475T>A (p.Ile492Asn) c.953T>A (p.Ile318Asn) c.1517T>A (p.Ile506Asn) c.686T>A (p.Ile229Asn) | |
| 12 | g.51920856T>C | CA384906082 | ACVRL1 | c.1205T>C (p.Ile402Thr) c.1475T>C (p.Ile492Thr) c.953T>C (p.Ile318Thr) c.1517T>C (p.Ile506Thr) c.686T>C (p.Ile229Thr) | |
| 12 | g.51920856T>G | CA384906083 | ACVRL1 | c.1205T>G (p.Ile402Ser) c.1475T>G (p.Ile492Ser) c.953T>G (p.Ile318Ser) c.1517T>G (p.Ile506Ser) c.686T>G (p.Ile229Ser) | |
| 12 | g.51920857T>A | CA479817117 | ACVRL1 | c.1206T>A (p.Ile402=) c.1476T>A (p.Ile492=) c.954T>A (p.Ile318=) c.1518T>A (p.Ile506=) c.687T>A (p.Ile229=) | |
| 12 | g.51920857T>C | CA479817121 | ACVRL1 | c.1206T>C (p.Ile402=) c.1476T>C (p.Ile492=) c.954T>C (p.Ile318=) c.1518T>C (p.Ile506=) c.687T>C (p.Ile229=) | |
| 12 | g.51920857T>G | CA384906098 | ACVRL1 | c.1206T>G (p.Ile402Met) c.1476T>G (p.Ile492Met) c.954T>G (p.Ile318Met) c.1518T>G (p.Ile506Met) c.687T>G (p.Ile229Met) | |
| 12 | g.51920858A>C | CA384906102 | ACVRL1 | c.1207A>C (p.Ser403Arg) c.1477A>C (p.Ser493Arg) c.955A>C (p.Ser319Arg) c.1519A>C (p.Ser507Arg) c.688A>C (p.Ser230Arg) | |
| 12 | g.51920858A>G | CA384906105 | ACVRL1 | c.1207A>G (p.Ser403Gly) c.1477A>G (p.Ser493Gly) c.955A>G (p.Ser319Gly) c.1519A>G (p.Ser507Gly) c.688A>G (p.Ser230Gly) | |
| 12 | g.51920858A>T | CA384906111 | ACVRL1 | c.1207A>T (p.Ser403Cys) c.1477A>T (p.Ser493Cys) c.955A>T (p.Ser319Cys) c.1519A>T (p.Ser507Cys) c.688A>T (p.Ser230Cys) | |
| 12 | g.51920858_51920859delinsAG | CA2036241969 | ACVRL1 | c.1207_1208delinsAG (p.Ser403=) c.1477_1478delinsAG (p.Ser493=) c.955_956delinsAG (p.Ser319=) c.1519_1520delinsAG (p.Ser507=) c.688_689delinsAG (p.Ser230=) | |
| 12 | g.51920859del | CA16609765 | ACVRL1 | c.1208del (p.Ser403ThrfsTer9) c.1478del (p.Ser493ThrfsTer9) c.956del (p.Ser319ThrfsTer9) c.1520del (p.Ser507ThrfsTer9) c.689del (p.Ser230ThrfsTer9) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920859G>A | CA384906116 | ACVRL1 | c.1208G>A (p.Ser403Asn) c.1478G>A (p.Ser493Asn) c.956G>A (p.Ser319Asn) c.1520G>A (p.Ser507Asn) c.689G>A (p.Ser230Asn) | |
| 12 | g.51920859G>C | CA384906129 | ACVRL1 | c.1208G>C (p.Ser403Thr) c.1478G>C (p.Ser493Thr) c.956G>C (p.Ser319Thr) c.1520G>C (p.Ser507Thr) c.689G>C (p.Ser230Thr) | |
| 12 | g.51920859G= | CA2036241977 | ACVRL1 | c.1208G= (p.Ser403=) c.1478G= (p.Ser493=) c.956G= (p.Ser319=) c.1520G= (p.Ser507=) c.689G= (p.Ser230=) | |
| 12 | g.51920859G>T | CA6573178 | ACVRL1 | c.1208G>T (p.Ser403Ile) c.1478G>T (p.Ser493Ile) c.956G>T (p.Ser319Ile) c.1520G>T (p.Ser507Ile) c.689G>T (p.Ser230Ile) | dbSNP ExAC gnomAD v2 |
| 12 | g.51920860C>A | CA384906135 | ACVRL1 | c.1209C>A (p.Ser403Arg) c.1479C>A (p.Ser493Arg) c.957C>A (p.Ser319Arg) c.1521C>A (p.Ser507Arg) c.690C>A (p.Ser230Arg) | |
| 12 | g.51920860C= | CA2036241978 | ACVRL1 | c.1209C= (p.Ser403=) c.1479C= (p.Ser493=) c.957C= (p.Ser319=) c.1521C= (p.Ser507=) c.690C= (p.Ser230=) | |
| 12 | g.51920860C>G | CA384906162 | ACVRL1 | c.1209C>G (p.Ser403Arg) c.1479C>G (p.Ser493Arg) c.957C>G (p.Ser319Arg) c.1521C>G (p.Ser507Arg) c.690C>G (p.Ser230Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920860C>T | CA479817155 | ACVRL1 | c.1209C>T (p.Ser403=) c.1479C>T (p.Ser493=) c.957C>T (p.Ser319=) c.1521C>T (p.Ser507=) c.690C>T (p.Ser230=) | |
| 12 | g.51920861A>C | CA384906166 | ACVRL1 | c.1210A>C (p.Asn404His) c.1480A>C (p.Asn494His) c.958A>C (p.Asn320His) c.1522A>C (p.Asn508His) c.691A>C (p.Asn231His) | |
| 12 | g.51920861A>G | CA384906167 | ACVRL1 | c.1210A>G (p.Asn404Asp) c.1480A>G (p.Asn494Asp) c.958A>G (p.Asn320Asp) c.1522A>G (p.Asn508Asp) c.691A>G (p.Asn231Asp) | |
| 12 | g.51920861A>T | CA384906168 | ACVRL1 | c.1210A>T (p.Asn404Tyr) c.1480A>T (p.Asn494Tyr) c.958A>T (p.Asn320Tyr) c.1522A>T (p.Asn508Tyr) c.691A>T (p.Asn231Tyr) | |
| 12 | g.51920862A>C | CA384906171 | ACVRL1 | c.1211A>C (p.Asn404Thr) c.1481A>C (p.Asn494Thr) c.959A>C (p.Asn320Thr) c.1523A>C (p.Asn508Thr) c.692A>C (p.Asn231Thr) | |
| 12 | g.51920862A>G | CA384906170 | ACVRL1 | c.1211A>G (p.Asn404Ser) c.1481A>G (p.Asn494Ser) c.959A>G (p.Asn320Ser) c.1523A>G (p.Asn508Ser) c.692A>G (p.Asn231Ser) | |
| 12 | g.51920862A>T | CA384906169 | ACVRL1 | c.1211A>T (p.Asn404Ile) c.1481A>T (p.Asn494Ile) c.959A>T (p.Asn320Ile) c.1523A>T (p.Asn508Ile) c.692A>T (p.Asn231Ile) | |
| 12 | g.51920863C>A | CA384906173 | ACVRL1 | c.1212C>A (p.Asn404Lys) c.1482C>A (p.Asn494Lys) c.960C>A (p.Asn320Lys) c.1524C>A (p.Asn508Lys) c.693C>A (p.Asn231Lys) | |
| 12 | g.51920863C>G | CA384906182 | ACVRL1 | c.1212C>G (p.Asn404Lys) c.1482C>G (p.Asn494Lys) c.960C>G (p.Asn320Lys) c.1524C>G (p.Asn508Lys) c.693C>G (p.Asn231Lys) | |
| 12 | g.51920863C>T | CA479817177 | ACVRL1 | c.1212C>T (p.Asn404=) c.1482C>T (p.Asn494=) c.960C>T (p.Asn320=) c.1524C>T (p.Asn508=) c.693C>T (p.Asn231=) | |
| 12 | g.51920864A= | CA2036241982 | ACVRL1 | c.1213A= (p.Ser405=) c.1483A= (p.Ser495=) c.961A= (p.Ser321=) c.1525A= (p.Ser509=) c.694A= (p.Ser232=) | |
| 12 | g.51920864A>C | CA384906186 | ACVRL1 | c.1213A>C (p.Ser405Arg) c.1483A>C (p.Ser495Arg) c.961A>C (p.Ser321Arg) c.1525A>C (p.Ser509Arg) c.694A>C (p.Ser232Arg) | |
| 12 | g.51920864A>G | CA236367787 | ACVRL1 | c.1213A>G (p.Ser405Gly) c.1483A>G (p.Ser495Gly) c.961A>G (p.Ser321Gly) c.1525A>G (p.Ser509Gly) c.694A>G (p.Ser232Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920864A>T | CA384906200 | ACVRL1 | c.1213A>T (p.Ser405Cys) c.1483A>T (p.Ser495Cys) c.961A>T (p.Ser321Cys) c.1525A>T (p.Ser509Cys) c.694A>T (p.Ser232Cys) | |
| 12 | g.51920865G>A | CA384906203 | ACVRL1 | c.1214G>A (p.Ser405Asn) c.1484G>A (p.Ser495Asn) c.962G>A (p.Ser321Asn) c.1526G>A (p.Ser509Asn) c.695G>A (p.Ser232Asn) | |
| 12 | g.51920865G>C | CA384906204 | ACVRL1 | c.1214G>C (p.Ser405Thr) c.1484G>C (p.Ser495Thr) c.962G>C (p.Ser321Thr) c.1526G>C (p.Ser509Thr) c.695G>C (p.Ser232Thr) | |
| 12 | g.51920865G>T | CA384906205 | ACVRL1 | c.1214G>T (p.Ser405Ile) c.1484G>T (p.Ser495Ile) c.962G>T (p.Ser321Ile) c.1526G>T (p.Ser509Ile) c.695G>T (p.Ser232Ile) | |
| 12 | g.51920866T>A | CA384906206 | ACVRL1 | c.1215T>A (p.Ser405Arg) c.1485T>A (p.Ser495Arg) c.963T>A (p.Ser321Arg) c.1527T>A (p.Ser509Arg) c.696T>A (p.Ser232Arg) | |
| 12 | g.51920866T>C | CA479817197 | ACVRL1 | c.1215T>C (p.Ser405=) c.1485T>C (p.Ser495=) c.963T>C (p.Ser321=) c.1527T>C (p.Ser509=) c.696T>C (p.Ser232=) | |
| 12 | g.51920866T>G | CA384906207 | ACVRL1 | c.1215T>G (p.Ser405Arg) c.1485T>G (p.Ser495Arg) c.963T>G (p.Ser321Arg) c.1527T>G (p.Ser509Arg) c.696T>G (p.Ser232Arg) | |
| 12 | g.51920867C>A | CA384906209 | ACVRL1 | c.1216C>A (p.Pro406Thr) c.1486C>A (p.Pro496Thr) c.964C>A (p.Pro322Thr) c.1528C>A (p.Pro510Thr) c.697C>A (p.Pro233Thr) | gnomAD v4 |
| 12 | g.51920867C>G | CA384906218 | ACVRL1 | c.1216C>G (p.Pro406Ala) c.1486C>G (p.Pro496Ala) c.964C>G (p.Pro322Ala) c.1528C>G (p.Pro510Ala) c.697C>G (p.Pro233Ala) | |
| 12 | g.51920867C>T | CA384906219 | ACVRL1 | c.1216C>T (p.Pro406Ser) c.1486C>T (p.Pro496Ser) c.964C>T (p.Pro322Ser) c.1528C>T (p.Pro510Ser) c.697C>T (p.Pro233Ser) | |
| 12 | g.51920868C>A | CA384906222 | ACVRL1 | c.1217C>A (p.Pro406Gln) c.1487C>A (p.Pro496Gln) c.965C>A (p.Pro322Gln) c.1529C>A (p.Pro510Gln) c.698C>A (p.Pro233Gln) | |
| 12 | g.51920868C>G | CA384906226 | ACVRL1 | c.1217C>G (p.Pro406Arg) c.1487C>G (p.Pro496Arg) c.965C>G (p.Pro322Arg) c.1529C>G (p.Pro510Arg) c.698C>G (p.Pro233Arg) | |
| 12 | g.51920868C>T | CA384906220 | ACVRL1 | c.1217C>T (p.Pro406Leu) c.1487C>T (p.Pro496Leu) c.965C>T (p.Pro322Leu) c.1529C>T (p.Pro510Leu) c.698C>T (p.Pro233Leu) | |
| 12 | g.51920869A>C | CA479817217 | ACVRL1 | c.1218A>C (p.Pro406=) c.1488A>C (p.Pro496=) c.966A>C (p.Pro322=) c.1530A>C (p.Pro510=) c.699A>C (p.Pro233=) | |
| 12 | g.51920869A>G | CA479817219 | ACVRL1 | c.1218A>G (p.Pro406=) c.1488A>G (p.Pro496=) c.966A>G (p.Pro322=) c.1530A>G (p.Pro510=) c.699A>G (p.Pro233=) | |
| 12 | g.51920869A>T | CA479817221 | ACVRL1 | c.1218A>T (p.Pro406=) c.1488A>T (p.Pro496=) c.966A>T (p.Pro322=) c.1530A>T (p.Pro510=) c.699A>T (p.Pro233=) | |
| 12 | g.51920870G>A | CA384906230 | ACVRL1 | c.1219G>A (p.Glu407Lys) c.1489G>A (p.Glu497Lys) c.967G>A (p.Glu323Lys) c.1531G>A (p.Glu511Lys) c.700G>A (p.Glu234Lys) | |
| 12 | g.51920870G>C | CA384906235 | ACVRL1 | c.1219G>C (p.Glu407Gln) c.1489G>C (p.Glu497Gln) c.967G>C (p.Glu323Gln) c.1531G>C (p.Glu511Gln) c.700G>C (p.Glu234Gln) | |
| 12 | g.51920870G>T | CA384906232 | ACVRL1 | c.1219G>T (p.Glu407Ter) c.1489G>T (p.Glu497Ter) c.967G>T (p.Glu323Ter) c.1531G>T (p.Glu511Ter) c.700G>T (p.Glu234Ter) | |
| 12 | g.51920871A>C | CA384906237 | ACVRL1 | c.1220A>C (p.Glu407Ala) c.1490A>C (p.Glu497Ala) c.968A>C (p.Glu323Ala) c.1532A>C (p.Glu511Ala) c.701A>C (p.Glu234Ala) | |
| 12 | g.51920871A>G | CA384906243 | ACVRL1 | c.1220A>G (p.Glu407Gly) c.1490A>G (p.Glu497Gly) c.968A>G (p.Glu323Gly) c.1532A>G (p.Glu511Gly) c.701A>G (p.Glu234Gly) | |
| 12 | g.51920871A>T | CA384906245 | ACVRL1 | c.1220A>T (p.Glu407Val) c.1490A>T (p.Glu497Val) c.968A>T (p.Glu323Val) c.1532A>T (p.Glu511Val) c.701A>T (p.Glu234Val) | |
| 12 | g.51920872G>A | CA479817242 | ACVRL1 | c.1221G>A (p.Glu407=) c.1491G>A (p.Glu497=) c.969G>A (p.Glu323=) c.1533G>A (p.Glu511=) c.702G>A (p.Glu234=) | |
| 12 | g.51920872G>C | CA384906249 | ACVRL1 | c.1221G>C (p.Glu407Asp) c.1491G>C (p.Glu497Asp) c.969G>C (p.Glu323Asp) c.1533G>C (p.Glu511Asp) c.702G>C (p.Glu234Asp) | |
| 12 | g.51920872G>T | CA384906251 | ACVRL1 | c.1221G>T (p.Glu407Asp) c.1491G>T (p.Glu497Asp) c.969G>T (p.Glu323Asp) c.1533G>T (p.Glu511Asp) c.702G>T (p.Glu234Asp) | |
| 12 | g.51920873A>C | CA384906255 | ACVRL1 | c.1222A>C (p.Lys408Gln) c.1492A>C (p.Lys498Gln) c.970A>C (p.Lys324Gln) c.1534A>C (p.Lys512Gln) c.703A>C (p.Lys235Gln) | |
| 12 | g.51920873A>G | CA384906256 | ACVRL1 | c.1222A>G (p.Lys408Glu) c.1492A>G (p.Lys498Glu) c.970A>G (p.Lys324Glu) c.1534A>G (p.Lys512Glu) c.703A>G (p.Lys235Glu) | |
| 12 | g.51920873A>T | CA384906259 | ACVRL1 | c.1222A>T (p.Lys408Ter) c.1492A>T (p.Lys498Ter) c.970A>T (p.Lys324Ter) c.1534A>T (p.Lys512Ter) c.703A>T (p.Lys235Ter) | |
| 12 | g.51920874A>C | CA384906271 | ACVRL1 | c.1223A>C (p.Lys408Thr) c.1493A>C (p.Lys498Thr) c.971A>C (p.Lys324Thr) c.1535A>C (p.Lys512Thr) c.704A>C (p.Lys235Thr) | |
| 12 | g.51920874A>G | CA384906272 | ACVRL1 | c.1223A>G (p.Lys408Arg) c.1493A>G (p.Lys498Arg) c.971A>G (p.Lys324Arg) c.1535A>G (p.Lys512Arg) c.704A>G (p.Lys235Arg) | |
| 12 | g.51920874A>T | CA384906274 | ACVRL1 | c.1223A>T (p.Lys408Met) c.1493A>T (p.Lys498Met) c.971A>T (p.Lys324Met) c.1535A>T (p.Lys512Met) c.704A>T (p.Lys235Met) | |
| 12 | g.51920875G>A | CA479817279 | ACVRL1 | c.1224G>A (p.Lys408=) c.1494G>A (p.Lys498=) c.972G>A (p.Lys324=) c.1536G>A (p.Lys512=) c.705G>A (p.Lys235=) | |
| 12 | g.51920875G>C | CA384906278 | ACVRL1 | c.1224G>C (p.Lys408Asn) c.1494G>C (p.Lys498Asn) c.972G>C (p.Lys324Asn) c.1536G>C (p.Lys512Asn) c.705G>C (p.Lys235Asn) | |
| 12 | g.51920875G>T | CA384906275 | ACVRL1 | c.1224G>T (p.Lys408Asn) c.1494G>T (p.Lys498Asn) c.972G>T (p.Lys324Asn) c.1536G>T (p.Lys512Asn) c.705G>T (p.Lys235Asn) | |
| 12 | g.51920876C>A | CA384906288 | ACVRL1 | c.1225C>A (p.Pro409Thr) c.1495C>A (p.Pro499Thr) c.973C>A (p.Pro325Thr) c.1537C>A (p.Pro513Thr) c.706C>A (p.Pro236Thr) | |
| 12 | g.51920876C= | CA2036241985 | ACVRL1 | c.1225C= (p.Pro409=) c.1495C= (p.Pro499=) c.973C= (p.Pro325=) c.1537C= (p.Pro513=) c.706C= (p.Pro236=) | |
| 12 | g.51920876C>G | CA6573179 | ACVRL1 | c.1225C>G (p.Pro409Ala) c.1495C>G (p.Pro499Ala) c.973C>G (p.Pro325Ala) c.1537C>G (p.Pro513Ala) c.706C>G (p.Pro236Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920876C>T | CA384906289 | ACVRL1 | c.1225C>T (p.Pro409Ser) c.1495C>T (p.Pro499Ser) c.973C>T (p.Pro325Ser) c.1537C>T (p.Pro513Ser) c.706C>T (p.Pro236Ser) | |
| 12 | g.51920877C>A | CA384906290 | ACVRL1 | c.1226C>A (p.Pro409His) c.1496C>A (p.Pro499His) c.974C>A (p.Pro325His) c.1538C>A (p.Pro513His) c.707C>A (p.Pro236His) | |
| 12 | g.51920877C>G | CA384906291 | ACVRL1 | c.1226C>G (p.Pro409Arg) c.1496C>G (p.Pro499Arg) c.974C>G (p.Pro325Arg) c.1538C>G (p.Pro513Arg) c.707C>G (p.Pro236Arg) | |
| 12 | g.51920877C>T | CA384906293 | ACVRL1 | c.1226C>T (p.Pro409Leu) c.1496C>T (p.Pro499Leu) c.974C>T (p.Pro325Leu) c.1538C>T (p.Pro513Leu) c.707C>T (p.Pro236Leu) | |
| 12 | g.51920878T>A | CA479817314 | ACVRL1 | c.1227T>A (p.Pro409=) c.1497T>A (p.Pro499=) c.975T>A (p.Pro325=) c.1539T>A (p.Pro513=) c.708T>A (p.Pro236=) | |
| 12 | g.51920878T>C | CA479817321 | ACVRL1 | c.1227T>C (p.Pro409=) c.1497T>C (p.Pro499=) c.975T>C (p.Pro325=) c.1539T>C (p.Pro513=) c.708T>C (p.Pro236=) | ClinVar gnomAD v4 |
| 12 | g.51920878T>G | CA479817318 | ACVRL1 | c.1227T>G (p.Pro409=) c.1497T>G (p.Pro499=) c.975T>G (p.Pro325=) c.1539T>G (p.Pro513=) c.708T>G (p.Pro236=) | |
| 12 | g.51920879A>C | CA384906296 | ACVRL1 | c.1228A>C (p.Lys410Gln) c.1498A>C (p.Lys500Gln) c.976A>C (p.Lys326Gln) c.1540A>C (p.Lys514Gln) c.709A>C (p.Lys237Gln) | |
| 12 | g.51920879A>G | CA384906302 | ACVRL1 | c.1228A>G (p.Lys410Glu) c.1498A>G (p.Lys500Glu) c.976A>G (p.Lys326Glu) c.1540A>G (p.Lys514Glu) c.709A>G (p.Lys237Glu) | |
| 12 | g.51920879A>T | CA384906306 | ACVRL1 | c.1228A>T (p.Lys410Ter) c.1498A>T (p.Lys500Ter) c.976A>T (p.Lys326Ter) c.1540A>T (p.Lys514Ter) c.709A>T (p.Lys237Ter) | |
| 12 | g.51920880A>C | CA384906307 | ACVRL1 | c.1229A>C (p.Lys410Thr) c.1499A>C (p.Lys500Thr) c.977A>C (p.Lys326Thr) c.1541A>C (p.Lys514Thr) c.710A>C (p.Lys237Thr) | |
| 12 | g.51920880A>G | CA384906308 | ACVRL1 | c.1229A>G (p.Lys410Arg) c.1499A>G (p.Lys500Arg) c.977A>G (p.Lys326Arg) c.1541A>G (p.Lys514Arg) c.710A>G (p.Lys237Arg) | |
| 12 | g.51920880A>T | CA384906309 | ACVRL1 | c.1229A>T (p.Lys410Ile) c.1499A>T (p.Lys500Ile) c.977A>T (p.Lys326Ile) c.1541A>T (p.Lys514Ile) c.710A>T (p.Lys237Ile) | |
| 12 | g.51920881A= | CA2036241989 | ACVRL1 | c.1230A= (p.Lys410=) c.1500A= (p.Lys500=) c.978A= (p.Lys326=) c.1542A= (p.Lys514=) c.711A= (p.Lys237=) | |
| 12 | g.51920881A>C | CA384906311 | ACVRL1 | c.1230A>C (p.Lys410Asn) c.1500A>C (p.Lys500Asn) c.978A>C (p.Lys326Asn) c.1542A>C (p.Lys514Asn) c.711A>C (p.Lys237Asn) | |
| 12 | g.51920881A>G | CA479817355 | ACVRL1 | c.1230A>G (p.Lys410=) c.1500A>G (p.Lys500=) c.978A>G (p.Lys326=) c.1542A>G (p.Lys514=) c.711A>G (p.Lys237=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920881A>T | CA384906310 | ACVRL1 | c.1230A>T (p.Lys410Asn) c.1500A>T (p.Lys500Asn) c.978A>T (p.Lys326Asn) c.1542A>T (p.Lys514Asn) c.711A>T (p.Lys237Asn) | |
| 12 | g.51920881_51920882insCCAAACACACCCAACACA | CA2795983809 | ACVRL1 | c.1230_1231insCCAAACACACCCAACACA (p.Lys410_Val411insProAsnThrProAsnThr) c.1500_1501insCCAAACACACCCAACACA (p.Lys500_Val501insProAsnThrProAsnThr) c.978_979insCCAAACACACCCAACACA (p.Lys326_Val327insProAsnThrProAsnThr) c.1542_1543insCCAAACACACCCAACACA (p.Lys514_Val515insProAsnThrProAsnThr) c.711_712insCCAAACACACCCAACACA (p.Lys237_Val238insProAsnThrProAsnThr) | |
| 12 | g.51920881_51920882insACCAAACACACCCAACACA | CA2795983808 | ACVRL1 | c.1230_1231insACCAAACACACCCAACACA (p.Val411ThrfsTer?) c.1500_1501insACCAAACACACCCAACACA (p.Val501ThrfsTer?) c.978_979insACCAAACACACCCAACACA (p.Val327ThrfsTer?) c.1542_1543insACCAAACACACCCAACACA (p.Val515ThrfsTer?) c.711_712insACCAAACACACCCAACACA (p.Val238ThrfsTer?) | |
| 12 | g.51920882G>A | CA384906312 | ACVRL1 | c.1231G>A (p.Val411Met) c.1501G>A (p.Val501Met) c.979G>A (p.Val327Met) c.1543G>A (p.Val515Met) c.712G>A (p.Val238Met) | |
| 12 | g.51920882G>C | CA384906313 | ACVRL1 | c.1231G>C (p.Val411Leu) c.1501G>C (p.Val501Leu) c.979G>C (p.Val327Leu) c.1543G>C (p.Val515Leu) c.712G>C (p.Val238Leu) | |
| 12 | g.51920882G>T | CA384906314 | ACVRL1 | c.1231G>T (p.Val411Leu) c.1501G>T (p.Val501Leu) c.979G>T (p.Val327Leu) c.1543G>T (p.Val515Leu) c.712G>T (p.Val238Leu) | |
| 12 | g.51920883T>A | CA384906315 | ACVRL1 | c.1232T>A (p.Val411Glu) c.1502T>A (p.Val501Glu) c.980T>A (p.Val327Glu) c.1544T>A (p.Val515Glu) c.713T>A (p.Val238Glu) | |
| 12 | g.51920883T>C | CA384906326 | ACVRL1 | c.1232T>C (p.Val411Ala) c.1502T>C (p.Val501Ala) c.980T>C (p.Val327Ala) c.1544T>C (p.Val515Ala) c.713T>C (p.Val238Ala) | |
| 12 | g.51920883T>G | CA384906330 | ACVRL1 | c.1232T>G (p.Val411Gly) c.1502T>G (p.Val501Gly) c.980T>G (p.Val327Gly) c.1544T>G (p.Val515Gly) c.713T>G (p.Val238Gly) | |
| 12 | g.51920884G>A | CA236367800 | ACVRL1 | c.1233G>A (p.Val411=) c.1503G>A (p.Val501=) c.981G>A (p.Val327=) c.1545G>A (p.Val515=) c.714G>A (p.Val238=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920884G>C | CA479817379 | ACVRL1 | c.1233G>C (p.Val411=) c.1503G>C (p.Val501=) c.981G>C (p.Val327=) c.1545G>C (p.Val515=) c.714G>C (p.Val238=) | |
| 12 | g.51920884G= | CA2036241992 | ACVRL1 | c.1233G= (p.Val411=) c.1503G= (p.Val501=) c.981G= (p.Val327=) c.1545G= (p.Val515=) c.714G= (p.Val238=) | |
| 12 | g.51920884G>T | CA479817384 | ACVRL1 | c.1233G>T (p.Val411=) c.1503G>T (p.Val501=) c.981G>T (p.Val327=) c.1545G>T (p.Val515=) c.714G>T (p.Val238=) | gnomAD v4 |
| 12 | g.51920885A>C | CA384906332 | ACVRL1 | c.1234A>C (p.Ile412Leu) c.1504A>C (p.Ile502Leu) c.982A>C (p.Ile328Leu) c.1546A>C (p.Ile516Leu) c.715A>C (p.Ile239Leu) | COSMIC COSMIC |
| 12 | g.51920885A>G | CA384906334 | ACVRL1 | c.1234A>G (p.Ile412Val) c.1504A>G (p.Ile502Val) c.982A>G (p.Ile328Val) c.1546A>G (p.Ile516Val) c.715A>G (p.Ile239Val) | |
| 12 | g.51920885A>T | CA384906333 | ACVRL1 | c.1234A>T (p.Ile412Phe) c.1504A>T (p.Ile502Phe) c.982A>T (p.Ile328Phe) c.1546A>T (p.Ile516Phe) c.715A>T (p.Ile239Phe) | |
| 12 | g.51920886T>A | CA384906335 | ACVRL1 | c.1235T>A (p.Ile412Asn) c.1505T>A (p.Ile502Asn) c.983T>A (p.Ile328Asn) c.1547T>A (p.Ile516Asn) c.716T>A (p.Ile239Asn) | |
| 12 | g.51920886T>C | CA384906337 | ACVRL1 | c.1235T>C (p.Ile412Thr) c.1505T>C (p.Ile502Thr) c.983T>C (p.Ile328Thr) c.1547T>C (p.Ile516Thr) c.716T>C (p.Ile239Thr) | |
| 12 | g.51920886T>G | CA384906339 | ACVRL1 | c.1235T>G (p.Ile412Ser) c.1505T>G (p.Ile502Ser) c.983T>G (p.Ile328Ser) c.1547T>G (p.Ile516Ser) c.716T>G (p.Ile239Ser) | gnomAD v4 |
| 12 | g.51920887T>A | CA479817400 | ACVRL1 | c.1236T>A (p.Ile412=) c.1506T>A (p.Ile502=) c.984T>A (p.Ile328=) c.1548T>A (p.Ile516=) c.717T>A (p.Ile239=) | |
| 12 | g.51920887T>C | CA479817404 | ACVRL1 | c.1236T>C (p.Ile412=) c.1506T>C (p.Ile502=) c.984T>C (p.Ile328=) c.1548T>C (p.Ile516=) c.717T>C (p.Ile239=) | |
| 12 | g.51920887T>G | CA384906343 | ACVRL1 | c.1236T>G (p.Ile412Met) c.1506T>G (p.Ile502Met) c.984T>G (p.Ile328Met) c.1548T>G (p.Ile516Met) c.717T>G (p.Ile239Met) | |
| 12 | g.51920888C>A | CA384906344 | ACVRL1 | c.1237C>A (p.Gln413Lys) c.1507C>A (p.Gln503Lys) c.985C>A (p.Gln329Lys) c.1549C>A (p.Gln517Lys) c.718C>A (p.Gln240Lys) | gnomAD v4 |
| 12 | g.51920888C= | CA2036241998 | ACVRL1 | c.1237C= (p.Gln413=) c.1507C= (p.Gln503=) c.985C= (p.Gln329=) c.1549C= (p.Gln517=) c.718C= (p.Gln240=) | |
| 12 | g.51920888C>G | CA384906346 | ACVRL1 | c.1237C>G (p.Gln413Glu) c.1507C>G (p.Gln503Glu) c.985C>G (p.Gln329Glu) c.1549C>G (p.Gln517Glu) c.718C>G (p.Gln240Glu) | |
| 12 | g.51920888C>T | CA384906345 | ACVRL1 | c.1237C>T (p.Gln413Ter) c.1507C>T (p.Gln503Ter) c.985C>T (p.Gln329Ter) c.1549C>T (p.Gln517Ter) c.718C>T (p.Gln240Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920889A>C | CA384906348 | ACVRL1 | c.1238A>C (p.Gln413Pro) c.1508A>C (p.Gln503Pro) c.986A>C (p.Gln329Pro) c.1550A>C (p.Gln517Pro) c.719A>C (p.Gln240Pro) | |
| 12 | g.51920889A>G | CA384906350 | ACVRL1 | c.1238A>G (p.Gln413Arg) c.1508A>G (p.Gln503Arg) c.986A>G (p.Gln329Arg) c.1550A>G (p.Gln517Arg) c.719A>G (p.Gln240Arg) | gnomAD v4 |
| 12 | g.51920889A>T | CA384906351 | ACVRL1 | c.1238A>T (p.Gln413Leu) c.1508A>T (p.Gln503Leu) c.986A>T (p.Gln329Leu) c.1550A>T (p.Gln517Leu) c.719A>T (p.Gln240Leu) | gnomAD v4 |
| 12 | g.51920890A= | CA2036242003 | ACVRL1 | c.1239A= (p.Gln413=) c.1509A= (p.Gln503=) c.987A= (p.Gln329=) c.1551A= (p.Gln517=) c.720A= (p.Gln240=) | |
| 12 | g.51920890A>C | CA384906354 | ACVRL1 | c.1239A>C (p.Gln413His) c.1509A>C (p.Gln503His) c.987A>C (p.Gln329His) c.1551A>C (p.Gln517His) c.720A>C (p.Gln240His) | |
| 12 | g.51920890A>G | CA6573180 | ACVRL1 | c.1239A>G (p.Gln413=) c.1509A>G (p.Gln503=) c.987A>G (p.Gln329=) c.1551A>G (p.Gln517=) c.720A>G (p.Gln240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920890A>T | CA384906358 | ACVRL1 | c.1239A>T (p.Gln413His) c.1509A>T (p.Gln503His) c.987A>T (p.Gln329His) c.1551A>T (p.Gln517His) c.720A>T (p.Gln240His) | |
| 12 | g.51920891T>A | CA384906362 | ACVRL1 | c.1240T>A (p.Ter414Lys) c.1510T>A (p.Ter504Lys) c.988T>A (p.Ter330Lys) c.1552T>A (p.Ter518Lys) c.721T>A (p.Ter241Lys) | |
| 12 | g.51920891T>C | CA384906366 | ACVRL1 | c.1240T>C (p.Ter414Gln) c.1510T>C (p.Ter504Gln) c.988T>C (p.Ter330Gln) c.1552T>C (p.Ter518Gln) c.721T>C (p.Ter241Gln) | |
| 12 | g.51920891T>G | CA384906371 | ACVRL1 | c.1240T>G (p.Ter414Glu) c.1510T>G (p.Ter504Glu) c.988T>G (p.Ter330Glu) c.1552T>G (p.Ter518Glu) c.721T>G (p.Ter241Glu) | |
| 12 | g.51920892A>C | CA384906374 | ACVRL1 | c.1241A>C (p.Ter414Ser) c.1511A>C (p.Ter504Ser) c.989A>C (p.Ter330Ser) c.1553A>C (p.Ter518Ser) c.722A>C (p.Ter241Ser) | |
| 12 | g.51920892A>G | CA384906377 | ACVRL1 | c.1241A>G (p.Ter414Trp) c.1511A>G (p.Ter504Trp) c.989A>G (p.Ter330Trp) c.1553A>G (p.Ter518Trp) c.722A>G (p.Ter241Trp) | gnomAD v4 |
| 12 | g.51920892A>T | CA384906379 | ACVRL1 | c.1241A>T (p.Ter414Leu) c.1511A>T (p.Ter504Leu) c.989A>T (p.Ter330Leu) c.1553A>T (p.Ter518Leu) c.722A>T (p.Ter241Leu) | |
| 12 | g.51920893G>A | CA479817426 | ACVRL1 | c.1242G>A (p.Ter414=) c.1512G>A (p.Ter504=) c.990G>A (p.Ter330=) c.1554G>A (p.Ter518=) c.723G>A (p.Ter241=) | |
| 12 | g.51920893G>C | CA384906384 | ACVRL1 | c.1242G>C (p.Ter414Tyr) c.1512G>C (p.Ter504Tyr) c.990G>C (p.Ter330Tyr) c.1554G>C (p.Ter518Tyr) c.723G>C (p.Ter241Tyr) | |
| 12 | g.51920893G>T | CA384906383 | ACVRL1 | c.1242G>T (p.Ter414Tyr) c.1512G>T (p.Ter504Tyr) c.990G>T (p.Ter330Tyr) c.1554G>T (p.Ter518Tyr) c.723G>T (p.Ter241Tyr) | gnomAD v4 |
| 12 | g.51920894C>A | CA2618860386 | ACVRL1 | c.*1C>A (n.*1C>A) | gnomAD v4 |
| 12 | g.51920894C= | CA2036242006 | ACVRL1 | c.*1C= (n.*1C=) | |
| 12 | g.51920894C>G | CA6573181 | ACVRL1 | c.*1C>G (n.*1C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920896C>A | CA2499340174 | ACVRL1 | c.*3C>A (n.*3C>A) | gnomAD v4 |
| 12 | g.51920897A>T | CA2530592287 | ACVRL1 | c.*4A>T (n.*4A>T) | gnomAD v4 |
| 12 | g.51920898G>A | CA236367806 | ACVRL1 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920898G= | CA2036242010 | ACVRL1 | c.*5G= (n.*5G=) | |
| 12 | g.51920898G>T | CA2618860387 | ACVRL1 | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 12 | g.51920899G>A | CA605053086 | ACVRL1 | c.*6G>A (n.*6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920899G= | CA2036242012 | ACVRL1 | c.*6G= (n.*6G=) | |
| 12 | g.51920899G>T | CA2618860388 | ACVRL1 | c.*6G>T (n.*6G>T) | gnomAD v4 |
| 12 | g.51920900A>G | CA2618860390 | ACVRL1 | c.*7A>G (n.*7A>G) | gnomAD v4 |
| 12 | g.51920900_51920924del | CA2618860389 | ACVRL1 | c.*7_*31del (n.*7_*31del) | gnomAD v4 |
| 12 | g.51920901G>A | CA605053087 | ACVRL1 | c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920901G= | CA2036242015 | ACVRL1 | c.*8G= (n.*8G=) | |
| 12 | g.51920903A= | CA2036242017 | ACVRL1 | c.*10A= (n.*10A=) | |
| 12 | g.51920903A>C | CA947668927 | ACVRL1 | c.*10A>C (n.*10A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920904C>A | CA2618860391 | ACVRL1 | c.*11C>A (n.*11C>A) | gnomAD v4 |
| 12 | g.51920905C>A | CA2618860392 | ACVRL1 | c.*12C>A (n.*12C>A) | gnomAD v4 |
| 12 | g.51920905C= | CA2036242018 | ACVRL1 | c.*12C= (n.*12C=) | |
| 12 | g.51920905C>T | CA605053088 | ACVRL1 | c.*12C>T (n.*12C>T) | dbSNP gnomAD v2 |
| 12 | g.51920906del | CA2568801849 | ACVRL1 | c.*13del (n.*13del) | |
| 12 | g.51920906T>C | CA2575161681 | ACVRL1 | c.*13T>C (n.*13T>C) | gnomAD v4 |
| 12 | g.51920907G>A | CA605053089 | ACVRL1 | c.*14G>A (n.*14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920907G= | CA2036242021 | ACVRL1 | c.*14G= (n.*14G=) | |
| 12 | g.51920907G>T | CA2618860393 | ACVRL1 | c.*14G>T (n.*14G>T) | gnomAD v4 |
| 12 | g.51920908A>T | CA2618860394 | ACVRL1 | c.*15A>T (n.*15A>T) | gnomAD v4 |
| 12 | g.51920909T>C | CA6573182 | ACVRL1 | c.*16T>C (n.*16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920909T>G | CA2618860395 | ACVRL1 | c.*16T>G (n.*16T>G) | gnomAD v4 |
| 12 | g.51920909T= | CA2036242024 | ACVRL1 | c.*16T= (n.*16T=) | |
| 12 | g.51920910T>C | CA947668931 | ACVRL1 | c.*17T>C (n.*17T>C) | gnomAD v3 gnomAD v4 |
| 12 | g.51920910T>G | CA2618860396 | ACVRL1 | c.*17T>G (n.*17T>G) | gnomAD v4 |
| 12 | g.51920911C>A | CA2618860397 | ACVRL1 | c.*18C>A (n.*18C>A) | gnomAD v4 |
| 12 | g.51920911C= | CA2036242029 | ACVRL1 | c.*18C= (n.*18C=) | |
| 12 | g.51920911C>T | CA605053091 | ACVRL1 | c.*18C>T (n.*18C>T) | dbSNP gnomAD v2 gnomAD v4 |