| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51920836C>A | CA479816923 | ACVRL1 | c.1455C>A (p.Ile485=) c.933C>A (p.Ile311=) c.1497C>A (p.Ile499=) c.1185C>A (p.Ile395=) c.666C>A (p.Ile222=) | |
| 12 | g.51920836C>G | CA384905846 | ACVRL1 | c.1455C>G (p.Ile485Met) c.933C>G (p.Ile311Met) c.1497C>G (p.Ile499Met) c.1185C>G (p.Ile395Met) c.666C>G (p.Ile222Met) | |
| 12 | g.51920836C>T | CA479816929 | ACVRL1 | c.1455C>T (p.Ile485=) c.933C>T (p.Ile311=) c.1497C>T (p.Ile499=) c.1185C>T (p.Ile395=) c.666C>T (p.Ile222=) | |
| 12 | g.51920836_51920839delinsCAAG | CA2036241918 | ACVRL1 | c.1455_1458delinsCAAG (p.Ile485=) c.933_936delinsCAAG (p.Ile311=) c.1497_1500delinsCAAG (p.Ile499=) c.1185_1188delinsCAAG (p.Ile395=) c.666_669delinsCAAG (p.Ile222=) | |
| 12 | g.51920837A= | CA2036241922 | ACVRL1 | c.1456A= (p.Lys486=) c.934A= (p.Lys312=) c.1498A= (p.Lys500=) c.1186A= (p.Lys396=) c.667A= (p.Lys223=) | |
| 12 | g.51920837A>C | CA384905848 | ACVRL1 | c.1456A>C (p.Lys486Gln) c.934A>C (p.Lys312Gln) c.1498A>C (p.Lys500Gln) c.1186A>C (p.Lys396Gln) c.667A>C (p.Lys223Gln) | |
| 12 | g.51920837A>G | CA236367781 | ACVRL1 | c.1456A>G (p.Lys486Glu) c.934A>G (p.Lys312Glu) c.1498A>G (p.Lys500Glu) c.1186A>G (p.Lys396Glu) c.667A>G (p.Lys223Glu) | dbSNP |
| 12 | g.51920837A>T | CA384905872 | ACVRL1 | c.1456A>T (p.Lys486Ter) c.934A>T (p.Lys312Ter) c.1498A>T (p.Lys500Ter) c.1186A>T (p.Lys396Ter) c.667A>T (p.Lys223Ter) | |
| 12 | g.51920841_51920843del | CA2036241920 | ACVRL1 | c.1460_1462del (p.Lys487del) c.938_940del (p.Lys313del) c.1502_1504del (p.Lys501del) c.1190_1192del (p.Lys397del) c.671_673del (p.Lys224del) | dbSNP |
| 12 | g.51920838A>C | CA384905876 | ACVRL1 | c.1457A>C (p.Lys486Thr) c.935A>C (p.Lys312Thr) c.1499A>C (p.Lys500Thr) c.1187A>C (p.Lys396Thr) c.668A>C (p.Lys223Thr) | |
| 12 | g.51920838A>G | CA384905883 | ACVRL1 | c.1457A>G (p.Lys486Arg) c.935A>G (p.Lys312Arg) c.1499A>G (p.Lys500Arg) c.1187A>G (p.Lys396Arg) c.668A>G (p.Lys223Arg) | |
| 12 | g.51920838A>T | CA384905885 | ACVRL1 | c.1457A>T (p.Lys486Met) c.935A>T (p.Lys312Met) c.1499A>T (p.Lys500Met) c.1187A>T (p.Lys396Met) c.668A>T (p.Lys223Met) | |
| 12 | g.51920839G>A | CA479816953 | ACVRL1 | c.1458G>A (p.Lys486=) c.936G>A (p.Lys312=) c.1500G>A (p.Lys500=) c.1188G>A (p.Lys396=) c.669G>A (p.Lys223=) | |
| 12 | g.51920839G>C | CA384905888 | ACVRL1 | c.1458G>C (p.Lys486Asn) c.936G>C (p.Lys312Asn) c.1500G>C (p.Lys500Asn) c.1188G>C (p.Lys396Asn) c.669G>C (p.Lys223Asn) | |
| 12 | g.51920839G>T | CA384905890 | ACVRL1 | c.1458G>T (p.Lys486Asn) c.936G>T (p.Lys312Asn) c.1500G>T (p.Lys500Asn) c.1188G>T (p.Lys396Asn) c.669G>T (p.Lys223Asn) | |
| 12 | g.51920840A= | CA2036241927 | ACVRL1 | c.1459A= (p.Lys487=) c.937A= (p.Lys313=) c.1501A= (p.Lys501=) c.1189A= (p.Lys397=) c.670A= (p.Lys224=) | |
| 12 | g.51920840A>C | CA384905893 | ACVRL1 | c.1459A>C (p.Lys487Gln) c.937A>C (p.Lys313Gln) c.1501A>C (p.Lys501Gln) c.1189A>C (p.Lys397Gln) c.670A>C (p.Lys224Gln) | ClinVar |
| 12 | g.51920840A>G | CA384905894 | ACVRL1 | c.1459A>G (p.Lys487Glu) c.937A>G (p.Lys313Glu) c.1501A>G (p.Lys501Glu) c.1189A>G (p.Lys397Glu) c.670A>G (p.Lys224Glu) | ClinVar |
| 12 | g.51920840A>T | CA384905895 | ACVRL1 | c.1459A>T (p.Lys487Ter) c.937A>T (p.Lys313Ter) c.1501A>T (p.Lys501Ter) c.1189A>T (p.Lys397Ter) c.670A>T (p.Lys224Ter) | |
| 12 | g.51920841A= | CA2036241937 | ACVRL1 | c.1460A= (p.Lys487=) c.938A= (p.Lys313=) c.1502A= (p.Lys501=) c.1190A= (p.Lys397=) c.671A= (p.Lys224=) | |
| 12 | g.51920841A>C | CA384905912 | ACVRL1 | c.1460A>C (p.Lys487Thr) c.938A>C (p.Lys313Thr) c.1502A>C (p.Lys501Thr) c.1190A>C (p.Lys397Thr) c.671A>C (p.Lys224Thr) | ClinVar |
| 12 | g.51920841A>G | CA384905897 | ACVRL1 | c.1460A>G (p.Lys487Arg) c.938A>G (p.Lys313Arg) c.1502A>G (p.Lys501Arg) c.1190A>G (p.Lys397Arg) c.671A>G (p.Lys224Arg) | |
| 12 | g.51920841A>T | CA384905896 | ACVRL1 | c.1460A>T (p.Lys487Met) c.938A>T (p.Lys313Met) c.1502A>T (p.Lys501Met) c.1190A>T (p.Lys397Met) c.671A>T (p.Lys224Met) | |
| 12 | g.51920842G>A | CA479816970 | ACVRL1 | c.1461G>A (p.Lys487=) c.939G>A (p.Lys313=) c.1503G>A (p.Lys501=) c.1191G>A (p.Lys397=) c.672G>A (p.Lys224=) | |
| 12 | g.51920842G>C | CA384905915 | ACVRL1 | c.1461G>C (p.Lys487Asn) c.939G>C (p.Lys313Asn) c.1503G>C (p.Lys501Asn) c.1191G>C (p.Lys397Asn) c.672G>C (p.Lys224Asn) | |
| 12 | g.51920842G>T | CA384905917 | ACVRL1 | c.1461G>T (p.Lys487Asn) c.939G>T (p.Lys313Asn) c.1503G>T (p.Lys501Asn) c.1191G>T (p.Lys397Asn) c.672G>T (p.Lys224Asn) | |
| 12 | g.51920843A>C | CA384905926 | ACVRL1 | c.1462A>C (p.Thr488Pro) c.940A>C (p.Thr314Pro) c.1504A>C (p.Thr502Pro) c.1192A>C (p.Thr398Pro) c.673A>C (p.Thr225Pro) | |
| 12 | g.51920843A>G | CA384905928 | ACVRL1 | c.1462A>G (p.Thr488Ala) c.940A>G (p.Thr314Ala) c.1504A>G (p.Thr502Ala) c.1192A>G (p.Thr398Ala) c.673A>G (p.Thr225Ala) | |
| 12 | g.51920843A>T | CA384905947 | ACVRL1 | c.1462A>T (p.Thr488Ser) c.940A>T (p.Thr314Ser) c.1504A>T (p.Thr502Ser) c.1192A>T (p.Thr398Ser) c.673A>T (p.Thr225Ser) | |
| 12 | g.51920844C>A | CA384905961 | ACVRL1 | c.1463C>A (p.Thr488Lys) c.941C>A (p.Thr314Lys) c.1505C>A (p.Thr502Lys) c.1193C>A (p.Thr398Lys) c.674C>A (p.Thr225Lys) | |
| 12 | g.51920844C>G | CA384905966 | ACVRL1 | c.1463C>G (p.Thr488Arg) c.941C>G (p.Thr314Arg) c.1505C>G (p.Thr502Arg) c.1193C>G (p.Thr398Arg) c.674C>G (p.Thr225Arg) | |
| 12 | g.51920844C>T | CA384905975 | ACVRL1 | c.1463C>T (p.Thr488Ile) c.941C>T (p.Thr314Ile) c.1505C>T (p.Thr502Ile) c.1193C>T (p.Thr398Ile) c.674C>T (p.Thr225Ile) | |
| 12 | g.51920845A= | CA2036241942 | ACVRL1 | c.1464A= (p.Thr488=) c.942A= (p.Thr314=) c.1506A= (p.Thr502=) c.1194A= (p.Thr398=) c.675A= (p.Thr225=) | |
| 12 | g.51920845A>C | CA479817004 | ACVRL1 | c.1464A>C (p.Thr488=) c.942A>C (p.Thr314=) c.1506A>C (p.Thr502=) c.1194A>C (p.Thr398=) c.675A>C (p.Thr225=) | gnomAD |
| 12 | g.51920845A>G | CA479816997 | ACVRL1 | c.1464A>G (p.Thr488=) c.942A>G (p.Thr314=) c.1506A>G (p.Thr502=) c.1194A>G (p.Thr398=) c.675A>G (p.Thr225=) | ClinVar |
| 12 | g.51920845A>T | CA479817000 | ACVRL1 | c.1464A>T (p.Thr488=) c.942A>T (p.Thr314=) c.1506A>T (p.Thr502=) c.1194A>T (p.Thr398=) c.675A>T (p.Thr225=) | |
| 12 | g.51920846C>A | CA384906000 | ACVRL1 | c.1465C>A (p.Leu489Ile) c.943C>A (p.Leu315Ile) c.1507C>A (p.Leu503Ile) c.1195C>A (p.Leu399Ile) c.676C>A (p.Leu226Ile) | ClinVar |
| 12 | g.51920846C= | CA2036241945 | ACVRL1 | c.1465C= (p.Leu489=) c.943C= (p.Leu315=) c.1507C= (p.Leu503=) c.1195C= (p.Leu399=) c.676C= (p.Leu226=) | |
| 12 | g.51920846C>G | CA384905980 | ACVRL1 | c.1465C>G (p.Leu489Val) c.943C>G (p.Leu315Val) c.1507C>G (p.Leu503Val) c.1195C>G (p.Leu399Val) c.676C>G (p.Leu226Val) | |
| 12 | g.51920846C>T | CA479817013 | ACVRL1 | c.1465C>T (p.Leu489=) c.943C>T (p.Leu315=) c.1507C>T (p.Leu503=) c.1195C>T (p.Leu399=) c.676C>T (p.Leu226=) | |
| 12 | g.51920847T>A | CA384906007 | ACVRL1 | c.1466T>A (p.Leu489Gln) c.944T>A (p.Leu315Gln) c.1508T>A (p.Leu503Gln) c.1196T>A (p.Leu399Gln) c.677T>A (p.Leu226Gln) | |
| 12 | g.51920847T>C | CA16606658 | ACVRL1 | c.1466T>C (p.Leu489Pro) c.944T>C (p.Leu315Pro) c.1508T>C (p.Leu503Pro) c.1196T>C (p.Leu399Pro) c.677T>C (p.Leu226Pro) | ClinVar |
| 12 | g.51920847T>G | CA384906009 | ACVRL1 | c.1466T>G (p.Leu489Arg) c.944T>G (p.Leu315Arg) c.1508T>G (p.Leu503Arg) c.1196T>G (p.Leu399Arg) c.677T>G (p.Leu226Arg) | |
| 12 | g.51920847T= | CA2036241949 | ACVRL1 | c.1466T= (p.Leu489=) c.944T= (p.Leu315=) c.1508T= (p.Leu503=) c.1196T= (p.Leu399=) c.677T= (p.Leu226=) | |
| 12 | g.51920848A>C | CA479817030 | ACVRL1 | c.1467A>C (p.Leu489=) c.945A>C (p.Leu315=) c.1509A>C (p.Leu503=) c.1197A>C (p.Leu399=) c.678A>C (p.Leu226=) | |
| 12 | g.51920848A>G | CA479817038 | ACVRL1 | c.1467A>G (p.Leu489=) c.945A>G (p.Leu315=) c.1509A>G (p.Leu503=) c.1197A>G (p.Leu399=) c.678A>G (p.Leu226=) | |
| 12 | g.51920848A>T | CA479817042 | ACVRL1 | c.1467A>T (p.Leu489=) c.945A>T (p.Leu315=) c.1509A>T (p.Leu503=) c.1197A>T (p.Leu399=) c.678A>T (p.Leu226=) | |
| 12 | g.51920849C>A | CA384906010 | ACVRL1 | c.1468C>A (p.Gln490Lys) c.946C>A (p.Gln316Lys) c.1510C>A (p.Gln504Lys) c.1198C>A (p.Gln400Lys) c.679C>A (p.Gln227Lys) | |
| 12 | g.51920849C= | CA2036241958 | ACVRL1 | c.1468C= (p.Gln490=) c.946C= (p.Gln316=) c.1510C= (p.Gln504=) c.1198C= (p.Gln400=) c.679C= (p.Gln227=) | |
| 12 | g.51920849C>G | CA384906011 | ACVRL1 | c.1468C>G (p.Gln490Glu) c.946C>G (p.Gln316Glu) c.1510C>G (p.Gln504Glu) c.1198C>G (p.Gln400Glu) c.679C>G (p.Gln227Glu) |