Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51916180T>A | CA254377 | ACVRL1 | c.923T>A (p.Ile308Asn) c.1193T>A (p.Ile398Asn) c.671T>A (p.Ile224Asn) n.468T>A c.1235T>A (p.Ile412Asn) c.198T>A c.404T>A (p.Ile135Asn) | ClinVar dbSNP |
12 | g.51916180T>C | CA384902873 | ACVRL1 | c.923T>C (p.Ile308Thr) c.1193T>C (p.Ile398Thr) c.671T>C (p.Ile224Thr) n.468T>C c.1235T>C (p.Ile412Thr) c.198T>C c.404T>C (p.Ile135Thr) | |
12 | g.51916180T>G | CA384902875 | ACVRL1 | c.923T>G (p.Ile308Ser) c.1193T>G (p.Ile398Ser) c.671T>G (p.Ile224Ser) n.468T>G c.1235T>G (p.Ile412Ser) c.198T>G c.404T>G (p.Ile135Ser) | |
12 | g.51916180T= | CA2036237090 | ACVRL1 | c.923T= (p.Ile308=) c.1193T= (p.Ile398=) c.671T= (p.Ile224=) n.468T= c.1235T= (p.Ile412=) c.198T= c.404T= (p.Ile135=) | |
12 | g.51916181C>A | CA479811265 | ACVRL1 | c.924C>A (p.Ile308=) c.1194C>A (p.Ile398=) c.672C>A (p.Ile224=) n.469C>A c.1236C>A (p.Ile412=) c.199C>A c.405C>A (p.Ile135=) | |
12 | g.51916181C>G | CA384902877 | ACVRL1 | c.924C>G (p.Ile308Met) c.1194C>G (p.Ile398Met) c.672C>G (p.Ile224Met) n.469C>G c.1236C>G (p.Ile412Met) c.199C>G c.405C>G (p.Ile135Met) | |
12 | g.51916181C>T | CA479811272 | ACVRL1 | c.924C>T (p.Ile308=) c.1194C>T (p.Ile398=) c.672C>T (p.Ile224=) n.469C>T c.1236C>T (p.Ile412=) c.199C>T c.405C>T (p.Ile135=) | |
12 | g.51916182T>A | CA384902879 | ACVRL1 | c.925T>A (p.Trp309Arg) c.1195T>A (p.Trp399Arg) c.673T>A (p.Trp225Arg) n.470T>A c.1237T>A (p.Trp413Arg) c.200T>A c.406T>A (p.Trp136Arg) | |
12 | g.51916182T>C | CA384902882 | ACVRL1 | c.925T>C (p.Trp309Arg) c.1195T>C (p.Trp399Arg) c.673T>C (p.Trp225Arg) n.470T>C c.1237T>C (p.Trp413Arg) c.200T>C c.406T>C (p.Trp136Arg) | ClinVar dbSNP |
12 | g.51916182T>G | CA384902880 | ACVRL1 | c.925T>G (p.Trp309Gly) c.1195T>G (p.Trp399Gly) c.673T>G (p.Trp225Gly) n.470T>G c.1237T>G (p.Trp413Gly) c.200T>G c.406T>G (p.Trp136Gly) | ClinVar dbSNP |
12 | g.51916182T= | CA2036237096 | ACVRL1 | c.925T= (p.Trp309=) c.1195T= (p.Trp399=) c.673T= (p.Trp225=) n.470T= c.1237T= (p.Trp413=) c.200T= c.406T= (p.Trp136=) | |
12 | g.51916183G>A | CA384902884 | ACVRL1 | c.926G>A (p.Trp309Ter) c.1196G>A (p.Trp399Ter) c.674G>A (p.Trp225Ter) n.471G>A c.1238G>A (p.Trp413Ter) c.201G>A c.407G>A (p.Trp136Ter) | ClinVar dbSNP |
12 | g.51916183G>C | CA119410 | ACVRL1 | c.926G>C (p.Trp309Ser) c.1196G>C (p.Trp399Ser) c.674G>C (p.Trp225Ser) n.471G>C c.1238G>C (p.Trp413Ser) c.201G>C c.407G>C (p.Trp136Ser) | ClinVar dbSNP |
12 | g.51916183G= | CA2036237105 | ACVRL1 | c.926G= (p.Trp309=) c.1196G= (p.Trp399=) c.674G= (p.Trp225=) n.471G= c.1238G= (p.Trp413=) c.201G= c.407G= (p.Trp136=) | |
12 | g.51916183G>T | CA384902886 | ACVRL1 | c.926G>T (p.Trp309Leu) c.1196G>T (p.Trp399Leu) c.674G>T (p.Trp225Leu) n.471G>T c.1238G>T (p.Trp413Leu) c.201G>T c.407G>T (p.Trp136Leu) | ClinVar dbSNP |
12 | g.51916185del | CA2580086500 | ACVRL1 | c.928del (p.Ala310ProfsTer15) c.1198del (p.Ala400ProfsTer15) c.676del (p.Ala226ProfsTer15) n.473del c.1240del (p.Ala414ProfsTer15) c.203del c.409del (p.Ala137ProfsTer15) | ClinVar |
12 | g.51916184G>A | CA384902889 | ACVRL1 | c.927G>A (p.Trp309Ter) c.1197G>A (p.Trp399Ter) c.675G>A (p.Trp225Ter) n.472G>A c.1239G>A (p.Trp413Ter) c.202G>A c.408G>A (p.Trp136Ter) | ClinVar dbSNP |
12 | g.51916184G>C | CA384902894 | ACVRL1 | c.927G>C (p.Trp309Cys) c.1197G>C (p.Trp399Cys) c.675G>C (p.Trp225Cys) n.472G>C c.1239G>C (p.Trp413Cys) c.202G>C c.408G>C (p.Trp136Cys) | |
12 | g.51916184G= | CA2036237110 | ACVRL1 | c.927G= (p.Trp309=) c.1197G= (p.Trp399=) c.675G= (p.Trp225=) n.472G= c.1239G= (p.Trp413=) c.202G= c.408G= (p.Trp136=) | |
12 | g.51916184G>T | CA384902896 | ACVRL1 | c.927G>T (p.Trp309Cys) c.1197G>T (p.Trp399Cys) c.675G>T (p.Trp225Cys) n.472G>T c.1239G>T (p.Trp413Cys) c.202G>T c.408G>T (p.Trp136Cys) | |
12 | g.51916185G>A | CA384902898 | ACVRL1 | c.928G>A (p.Ala310Thr) c.1198G>A (p.Ala400Thr) c.676G>A (p.Ala226Thr) n.473G>A c.1240G>A (p.Ala414Thr) c.203G>A c.409G>A (p.Ala137Thr) | ClinVar |
12 | g.51916185G>C | CA384902900 | ACVRL1 | c.928G>C (p.Ala310Pro) c.1198G>C (p.Ala400Pro) c.676G>C (p.Ala226Pro) n.473G>C c.1240G>C (p.Ala414Pro) c.203G>C c.409G>C (p.Ala137Pro) | ClinVar dbSNP |
12 | g.51916185G>T | CA384902902 | ACVRL1 | c.928G>T (p.Ala310Ser) c.1198G>T (p.Ala400Ser) c.676G>T (p.Ala226Ser) n.473G>T c.1240G>T (p.Ala414Ser) c.203G>T c.409G>T (p.Ala137Ser) | |
12 | g.51916186C>A | CA384902908 | ACVRL1 | c.929C>A (p.Ala310Asp) c.1199C>A (p.Ala400Asp) c.677C>A (p.Ala226Asp) n.474C>A c.1241C>A (p.Ala414Asp) c.204C>A c.410C>A (p.Ala137Asp) | ClinVar dbSNP |
12 | g.51916186C>G | CA384902906 | ACVRL1 | c.929C>G (p.Ala310Gly) c.1199C>G (p.Ala400Gly) c.677C>G (p.Ala226Gly) n.474C>G c.1241C>G (p.Ala414Gly) c.204C>G c.410C>G (p.Ala137Gly) | |
12 | g.51916186C>T | CA384902904 | ACVRL1 | c.929C>T (p.Ala310Val) c.1199C>T (p.Ala400Val) c.677C>T (p.Ala226Val) n.474C>T c.1241C>T (p.Ala414Val) c.204C>T c.410C>T (p.Ala137Val) | |
12 | g.51916187C>A | CA479811380 | ACVRL1 | c.930C>A (p.Ala310=) c.1200C>A (p.Ala400=) c.678C>A (p.Ala226=) n.475C>A c.1242C>A (p.Ala414=) c.205C>A c.411C>A (p.Ala137=) | |
12 | g.51916187C>G | CA479811384 | ACVRL1 | c.930C>G (p.Ala310=) c.1200C>G (p.Ala400=) c.678C>G (p.Ala226=) n.475C>G c.1242C>G (p.Ala414=) c.205C>G c.411C>G (p.Ala137=) | |
12 | g.51916187C>T | CA479811387 | ACVRL1 | c.930C>T (p.Ala310=) c.1200C>T (p.Ala400=) c.678C>T (p.Ala226=) n.475C>T c.1242C>T (p.Ala414=) c.205C>T c.411C>T (p.Ala137=) | dbSNP |
12 | g.51916188T>A | CA384902909 | ACVRL1 | c.931T>A (p.Phe311Ile) c.1201T>A (p.Phe401Ile) c.679T>A (p.Phe227Ile) n.476T>A c.1243T>A (p.Phe415Ile) c.206T>A c.412T>A (p.Phe138Ile) | |
12 | g.51916188T>C | CA384902910 | ACVRL1 | c.931T>C (p.Phe311Leu) c.1201T>C (p.Phe401Leu) c.679T>C (p.Phe227Leu) n.476T>C c.1243T>C (p.Phe415Leu) c.206T>C c.412T>C (p.Phe138Leu) | |
12 | g.51916188T>G | CA384902911 | ACVRL1 | c.931T>G (p.Phe311Val) c.1201T>G (p.Phe401Val) c.679T>G (p.Phe227Val) n.476T>G c.1243T>G (p.Phe415Val) c.206T>G c.412T>G (p.Phe138Val) | |
12 | g.51916189T>A | CA384902914 | ACVRL1 | c.932T>A (p.Phe311Tyr) c.1202T>A (p.Phe401Tyr) c.680T>A (p.Phe227Tyr) n.477T>A c.1244T>A (p.Phe415Tyr) c.207T>A c.413T>A (p.Phe138Tyr) | |
12 | g.51916189T>C | CA384902915 | ACVRL1 | c.932T>C (p.Phe311Ser) c.1202T>C (p.Phe401Ser) c.680T>C (p.Phe227Ser) n.477T>C c.1244T>C (p.Phe415Ser) c.207T>C c.413T>C (p.Phe138Ser) | |
12 | g.51916189T>G | CA384902917 | ACVRL1 | c.932T>G (p.Phe311Cys) c.1202T>G (p.Phe401Cys) c.680T>G (p.Phe227Cys) n.477T>G c.1244T>G (p.Phe415Cys) c.207T>G c.413T>G (p.Phe138Cys) | |
12 | g.51916190T>A | CA384902919 | ACVRL1 | c.933T>A (p.Phe311Leu) c.1203T>A (p.Phe401Leu) c.681T>A (p.Phe227Leu) n.478T>A c.1245T>A (p.Phe415Leu) c.208T>A c.414T>A (p.Phe138Leu) | |
12 | g.51916190T>C | CA479811437 | ACVRL1 | c.933T>C (p.Phe311=) c.1203T>C (p.Phe401=) c.681T>C (p.Phe227=) n.478T>C c.1245T>C (p.Phe415=) c.208T>C c.414T>C (p.Phe138=) | |
12 | g.51916190T>G | CA384902921 | ACVRL1 | c.933T>G (p.Phe311Leu) c.1203T>G (p.Phe401Leu) c.681T>G (p.Phe227Leu) n.478T>G c.1245T>G (p.Phe415Leu) c.208T>G c.414T>G (p.Phe138Leu) | |
12 | g.51916191G>A | CA384902923 | ACVRL1 | c.934G>A (p.Gly312Ser) c.1204G>A (p.Gly402Ser) c.682G>A (p.Gly228Ser) n.479G>A c.1246G>A (p.Gly416Ser) c.209G>A c.415G>A (p.Gly139Ser) | ClinVar dbSNP |
12 | g.51916191G>C | CA384902924 | ACVRL1 | c.934G>C (p.Gly312Arg) c.1204G>C (p.Gly402Arg) c.682G>C (p.Gly228Arg) n.479G>C c.1246G>C (p.Gly416Arg) c.209G>C c.415G>C (p.Gly139Arg) | |
12 | g.51916191G= | CA2036237114 | ACVRL1 | c.934G= (p.Gly312=) c.1204G= (p.Gly402=) c.682G= (p.Gly228=) n.479G= c.1246G= (p.Gly416=) c.209G= c.415G= (p.Gly139=) | |
12 | g.51916191G>T | CA384902925 | ACVRL1 | c.934G>T (p.Gly312Cys) c.1204G>T (p.Gly402Cys) c.682G>T (p.Gly228Cys) n.479G>T c.1246G>T (p.Gly416Cys) c.209G>T c.415G>T (p.Gly139Cys) | |
12 | g.51916192G>A | CA384902931 | ACVRL1 | c.935G>A (p.Gly312Asp) c.1205G>A (p.Gly402Asp) c.683G>A (p.Gly228Asp) n.480G>A c.1247G>A (p.Gly416Asp) c.210G>A c.416G>A (p.Gly139Asp) | |
12 | g.51916192G>C | CA384902929 | ACVRL1 | c.935G>C (p.Gly312Ala) c.1205G>C (p.Gly402Ala) c.683G>C (p.Gly228Ala) n.480G>C c.1247G>C (p.Gly416Ala) c.210G>C c.416G>C (p.Gly139Ala) | |
12 | g.51916192G>T | CA384902927 | ACVRL1 | c.935G>T (p.Gly312Val) c.1205G>T (p.Gly402Val) c.683G>T (p.Gly228Val) n.480G>T c.1247G>T (p.Gly416Val) c.210G>T c.416G>T (p.Gly139Val) | |
12 | g.51916193C>A | CA479811452 | ACVRL1 | c.936C>A (p.Gly312=) c.1206C>A (p.Gly402=) c.684C>A (p.Gly228=) n.481C>A c.1248C>A (p.Gly416=) c.211C>A c.417C>A (p.Gly139=) | |
12 | g.51916193C>G | CA479811455 | ACVRL1 | c.936C>G (p.Gly312=) c.1206C>G (p.Gly402=) c.684C>G (p.Gly228=) n.481C>G c.1248C>G (p.Gly416=) c.211C>G c.417C>G (p.Gly139=) | |
12 | g.51916193C>T | CA479811459 | ACVRL1 | c.936C>T (p.Gly312=) c.1206C>T (p.Gly402=) c.684C>T (p.Gly228=) n.481C>T c.1248C>T (p.Gly416=) c.211C>T c.417C>T (p.Gly139=) | |
12 | g.51916194C>A | CA384902938 | ACVRL1 | c.937C>A (p.Leu313Met) c.1207C>A (p.Leu403Met) c.685C>A (p.Leu229Met) n.482C>A c.1249C>A (p.Leu417Met) c.212C>A c.418C>A (p.Leu140Met) | |
12 | g.51916194C>G | CA384902947 | ACVRL1 | c.937C>G (p.Leu313Val) c.1207C>G (p.Leu403Val) c.685C>G (p.Leu229Val) n.482C>G c.1249C>G (p.Leu417Val) c.212C>G c.418C>G (p.Leu140Val) |