| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51916107_51916124del | CA2695216674 | ACVRL1 | c.850_867del (p.Arg284_Glu289del) c.1120_1137del (p.Arg374_Glu379del) c.598_615del (p.Arg200_Glu205del) n.395_412del c.1162_1179del (p.Arg388_Glu393del) c.125_142del c.331_348del (p.Arg111_Glu116del) | |
| 12 | g.51916110_51916148dup | CA2580086498 | ACVRL1 | c.853_891dup (p.Thr297_Asp298insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.601_639dup (p.Thr213_Asp214insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) n.398_436dup c.1165_1203dup (p.Thr401_Asp402insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) c.128_166dup c.334_372dup (p.Thr124_Asp125insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) | ClinVar |
| 12 | g.51916118A= | CA2036236918 | ACVRL1 | c.861A= (p.Ala287=) c.1131A= (p.Ala377=) c.609A= (p.Ala203=) n.406A= c.1173A= (p.Ala391=) c.136A= c.342A= (p.Ala114=) | |
| 12 | g.51916118A>C | CA479810631 | ACVRL1 | c.861A>C (p.Ala287=) c.1131A>C (p.Ala377=) c.609A>C (p.Ala203=) n.406A>C c.1173A>C (p.Ala391=) c.136A>C c.342A>C (p.Ala114=) | |
| 12 | g.51916118A>G | CA6573072 | ACVRL1 | c.861A>G (p.Ala287=) c.1131A>G (p.Ala377=) c.609A>G (p.Ala203=) n.406A>G c.1173A>G (p.Ala391=) c.136A>G c.342A>G (p.Ala114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916118A>T | CA479810626 | ACVRL1 | c.861A>T (p.Ala287=) c.1131A>T (p.Ala377=) c.609A>T (p.Ala203=) n.406A>T c.1173A>T (p.Ala391=) c.136A>T c.342A>T (p.Ala114=) | |
| 12 | g.51916119C>A | CA384902481 | ACVRL1 | c.862C>A (p.Pro288Thr) c.1132C>A (p.Pro378Thr) c.610C>A (p.Pro204Thr) n.407C>A c.1174C>A (p.Pro392Thr) c.137C>A c.343C>A (p.Pro115Thr) | |
| 12 | g.51916119C= | CA2036236924 | ACVRL1 | c.862C= (p.Pro288=) c.1132C= (p.Pro378=) c.610C= (p.Pro204=) n.407C= c.1174C= (p.Pro392=) c.137C= c.343C= (p.Pro115=) | |
| 12 | g.51916119C>G | CA384902483 | ACVRL1 | c.862C>G (p.Pro288Ala) c.1132C>G (p.Pro378Ala) c.610C>G (p.Pro204Ala) n.407C>G c.1174C>G (p.Pro392Ala) c.137C>G c.343C>G (p.Pro115Ala) | |
| 12 | g.51916119C>T | CA236364916 | ACVRL1 | c.862C>T (p.Pro288Ser) c.1132C>T (p.Pro378Ser) c.610C>T (p.Pro204Ser) n.407C>T c.1174C>T (p.Pro392Ser) c.137C>T c.343C>T (p.Pro115Ser) | ClinVar dbSNP |
| 12 | g.51916120C>A | CA384902488 | ACVRL1 | c.863C>A (p.Pro288His) c.1133C>A (p.Pro378His) c.611C>A (p.Pro204His) n.408C>A c.1175C>A (p.Pro392His) c.138C>A c.344C>A (p.Pro115His) | ClinVar COSMIC COSMIC |
| 12 | g.51916120C= | CA2036236930 | ACVRL1 | c.863C= (p.Pro288=) c.1133C= (p.Pro378=) c.611C= (p.Pro204=) n.408C= c.1175C= (p.Pro392=) c.138C= c.344C= (p.Pro115=) | |
| 12 | g.51916120C>G | CA384902489 | ACVRL1 | c.863C>G (p.Pro288Arg) c.1133C>G (p.Pro378Arg) c.611C>G (p.Pro204Arg) n.408C>G c.1175C>G (p.Pro392Arg) c.138C>G c.344C>G (p.Pro115Arg) | ClinVar dbSNP |
| 12 | g.51916120C>T | CA384902492 | ACVRL1 | c.863C>T (p.Pro288Leu) c.1133C>T (p.Pro378Leu) c.611C>T (p.Pro204Leu) n.408C>T c.1175C>T (p.Pro392Leu) c.138C>T c.344C>T (p.Pro115Leu) | ClinVar |
| 12 | g.51916121C>A | CA479810657 | ACVRL1 | c.864C>A (p.Pro288=) c.1134C>A (p.Pro378=) c.612C>A (p.Pro204=) n.409C>A c.1176C>A (p.Pro392=) c.139C>A c.345C>A (p.Pro115=) | |
| 12 | g.51916121C= | CA2036236935 | ACVRL1 | c.864C= (p.Pro288=) c.1134C= (p.Pro378=) c.612C= (p.Pro204=) n.409C= c.1176C= (p.Pro392=) c.139C= c.345C= (p.Pro115=) | |
| 12 | g.51916121C>G | CA479810650 | ACVRL1 | c.864C>G (p.Pro288=) c.1134C>G (p.Pro378=) c.612C>G (p.Pro204=) n.409C>G c.1176C>G (p.Pro392=) c.139C>G c.345C>G (p.Pro115=) | dbSNP |
| 12 | g.51916121C>T | CA6573073 | ACVRL1 | c.864C>T (p.Pro288=) c.1134C>T (p.Pro378=) c.612C>T (p.Pro204=) n.409C>T c.1176C>T (p.Pro392=) c.139C>T c.345C>T (p.Pro115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916122G>A | CA384902497 | ACVRL1 | c.865G>A (p.Glu289Lys) c.1135G>A (p.Glu379Lys) c.613G>A (p.Glu205Lys) n.410G>A c.1177G>A (p.Glu393Lys) c.140G>A c.346G>A (p.Glu116Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916122G>C | CA384902499 | ACVRL1 | c.865G>C (p.Glu289Gln) c.1135G>C (p.Glu379Gln) c.613G>C (p.Glu205Gln) n.410G>C c.1177G>C (p.Glu393Gln) c.140G>C c.346G>C (p.Glu116Gln) | ClinVar dbSNP |
| 12 | g.51916122G= | CA2036236944 | ACVRL1 | c.865G= (p.Glu289=) c.1135G= (p.Glu379=) c.613G= (p.Glu205=) n.410G= c.1177G= (p.Glu393=) c.140G= c.346G= (p.Glu116=) | |
| 12 | g.51916122G>T | CA384902500 | ACVRL1 | c.865G>T (p.Glu289Ter) c.1135G>T (p.Glu379Ter) c.613G>T (p.Glu205Ter) n.410G>T c.1177G>T (p.Glu393Ter) c.140G>T c.346G>T (p.Glu116Ter) | |
| 12 | g.51916123A>C | CA384902510 | ACVRL1 | c.866A>C (p.Glu289Ala) c.1136A>C (p.Glu379Ala) c.614A>C (p.Glu205Ala) n.411A>C c.1178A>C (p.Glu393Ala) c.141A>C c.347A>C (p.Glu116Ala) | ClinVar |
| 12 | g.51916123A>G | CA384902513 | ACVRL1 | c.866A>G (p.Glu289Gly) c.1136A>G (p.Glu379Gly) c.614A>G (p.Glu205Gly) n.411A>G c.1178A>G (p.Glu393Gly) c.141A>G c.347A>G (p.Glu116Gly) | ClinVar |
| 12 | g.51916123A>T | CA384902503 | ACVRL1 | c.866A>T (p.Glu289Val) c.1136A>T (p.Glu379Val) c.614A>T (p.Glu205Val) n.411A>T c.1178A>T (p.Glu393Val) c.141A>T c.347A>T (p.Glu116Val) | ClinVar |
| 12 | g.51916124G>A | CA6573074 | ACVRL1 | c.867G>A (p.Glu289=) c.1137G>A (p.Glu379=) c.615G>A (p.Glu205=) n.412G>A c.1179G>A (p.Glu393=) c.142G>A c.348G>A (p.Glu116=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51916124G>C | CA384902520 | ACVRL1 | c.867G>C (p.Glu289Asp) c.1137G>C (p.Glu379Asp) c.615G>C (p.Glu205Asp) n.412G>C c.1179G>C (p.Glu393Asp) c.142G>C c.348G>C (p.Glu116Asp) | |
| 12 | g.51916124G= | CA2036236946 | ACVRL1 | c.867G= (p.Glu289=) c.1137G= (p.Glu379=) c.615G= (p.Glu205=) n.412G= c.1179G= (p.Glu393=) c.142G= c.348G= (p.Glu116=) | |
| 12 | g.51916124G>T | CA384902517 | ACVRL1 | c.867G>T (p.Glu289Asp) c.1137G>T (p.Glu379Asp) c.615G>T (p.Glu205Asp) n.412G>T c.1179G>T (p.Glu393Asp) c.142G>T c.348G>T (p.Glu116Asp) | |
| 12 | g.51916125G>A | CA6573075 | ACVRL1 | c.868G>A (p.Val290Met) c.1138G>A (p.Val380Met) c.616G>A (p.Val206Met) n.413G>A c.1180G>A (p.Val394Met) c.143G>A c.349G>A (p.Val117Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51916125G>C | CA384902526 | ACVRL1 | c.868G>C (p.Val290Leu) c.1138G>C (p.Val380Leu) c.616G>C (p.Val206Leu) n.413G>C c.1180G>C (p.Val394Leu) c.143G>C c.349G>C (p.Val117Leu) | |
| 12 | g.51916125G= | CA2036236948 | ACVRL1 | c.868G= (p.Val290=) c.1138G= (p.Val380=) c.616G= (p.Val206=) n.413G= c.1180G= (p.Val394=) c.143G= c.349G= (p.Val117=) | |
| 12 | g.51916125G>T | CA384902523 | ACVRL1 | c.868G>T (p.Val290Leu) c.1138G>T (p.Val380Leu) c.616G>T (p.Val206Leu) n.413G>T c.1180G>T (p.Val394Leu) c.143G>T c.349G>T (p.Val117Leu) | gnomAD v4 |
| 12 | g.51916125_51916126delinsTG | CA645594554 | ACVRL1 | c.868_869delinsTG (p.Val290Trp) c.1138_1139delinsTG (p.Val380Trp) c.616_617delinsTG (p.Val206Trp) n.413_414delinsTG c.1180_1181delinsTG (p.Val394Trp) c.143_144delinsTG c.349_350delinsTG (p.Val117Trp) | COSMIC |
| 12 | g.51916126T>A | CA384902528 | ACVRL1 | c.869T>A (p.Val290Glu) c.1139T>A (p.Val380Glu) c.617T>A (p.Val206Glu) n.414T>A c.1181T>A (p.Val394Glu) c.144T>A c.350T>A (p.Val117Glu) | |
| 12 | g.51916126T>C | CA384902536 | ACVRL1 | c.869T>C (p.Val290Ala) c.1139T>C (p.Val380Ala) c.617T>C (p.Val206Ala) n.414T>C c.1181T>C (p.Val394Ala) c.144T>C c.350T>C (p.Val117Ala) | |
| 12 | g.51916126T>G | CA384902538 | ACVRL1 | c.869T>G (p.Val290Gly) c.1139T>G (p.Val380Gly) c.617T>G (p.Val206Gly) n.414T>G c.1181T>G (p.Val394Gly) c.144T>G c.350T>G (p.Val117Gly) | |
| 12 | g.51916127G>A | CA479810736 | ACVRL1 | c.870G>A (p.Val290=) c.1140G>A (p.Val380=) c.618G>A (p.Val206=) n.415G>A c.1182G>A (p.Val394=) c.145G>A c.351G>A (p.Val117=) | |
| 12 | g.51916127G>C | CA479810739 | ACVRL1 | c.870G>C (p.Val290=) c.1140G>C (p.Val380=) c.618G>C (p.Val206=) n.415G>C c.1182G>C (p.Val394=) c.145G>C c.351G>C (p.Val117=) | |
| 12 | g.51916127G>T | CA479810746 | ACVRL1 | c.870G>T (p.Val290=) c.1140G>T (p.Val380=) c.618G>T (p.Val206=) n.415G>T c.1182G>T (p.Val394=) c.145G>T c.351G>T (p.Val117=) | |
| 12 | g.51916128C>A | CA384902543 | ACVRL1 | c.871C>A (p.Leu291Met) c.1141C>A (p.Leu381Met) c.619C>A (p.Leu207Met) n.416C>A c.1183C>A (p.Leu395Met) c.146C>A c.352C>A (p.Leu118Met) | |
| 12 | g.51916128C>G | CA384902550 | ACVRL1 | c.871C>G (p.Leu291Val) c.1141C>G (p.Leu381Val) c.619C>G (p.Leu207Val) n.416C>G c.1183C>G (p.Leu395Val) c.146C>G c.352C>G (p.Leu118Val) | |
| 12 | g.51916128C>T | CA479810754 | ACVRL1 | c.871C>T (p.Leu291=) c.1141C>T (p.Leu381=) c.619C>T (p.Leu207=) n.416C>T c.1183C>T (p.Leu395=) c.146C>T c.352C>T (p.Leu118=) | dbSNP |
| 12 | g.51916129T>A | CA384902558 | ACVRL1 | c.872T>A (p.Leu291Gln) c.1142T>A (p.Leu381Gln) c.620T>A (p.Leu207Gln) n.417T>A c.1184T>A (p.Leu395Gln) c.147T>A c.353T>A (p.Leu118Gln) | |
| 12 | g.51916129T>C | CA384902555 | ACVRL1 | c.872T>C (p.Leu291Pro) c.1142T>C (p.Leu381Pro) c.620T>C (p.Leu207Pro) n.417T>C c.1184T>C (p.Leu395Pro) c.147T>C c.353T>C (p.Leu118Pro) | ClinVar dbSNP |
| 12 | g.51916129T>G | CA384902554 | ACVRL1 | c.872T>G (p.Leu291Arg) c.1142T>G (p.Leu381Arg) c.620T>G (p.Leu207Arg) n.417T>G c.1184T>G (p.Leu395Arg) c.147T>G c.353T>G (p.Leu118Arg) | |
| 12 | g.51916129T= | CA2036236956 | ACVRL1 | c.872T= (p.Leu291=) c.1142T= (p.Leu381=) c.620T= (p.Leu207=) n.417T= c.1184T= (p.Leu395=) c.147T= c.353T= (p.Leu118=) | |
| 12 | g.51916129_51916130delinsTG | CA2036236953 | ACVRL1 | c.872_873delinsTG (p.Leu291=) c.1142_1143delinsTG (p.Leu381=) c.620_621delinsTG (p.Leu207=) n.417_418delinsTG c.1184_1185delinsTG (p.Leu395=) c.147_148delinsTG c.353_354delinsTG (p.Leu118=) | |
| 12 | g.51916130G>A | CA479810759 | ACVRL1 | c.873G>A (p.Leu291=) c.1143G>A (p.Leu381=) c.621G>A (p.Leu207=) n.418G>A c.1185G>A (p.Leu395=) c.148G>A c.354G>A (p.Leu118=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51916130G>C | CA479810766 | ACVRL1 | c.873G>C (p.Leu291=) c.1143G>C (p.Leu381=) c.621G>C (p.Leu207=) n.418G>C c.1185G>C (p.Leu395=) c.148G>C c.354G>C (p.Leu118=) |