| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915373_51915379dup | CA2695216746 | ACVRL1 | c.651_657dup (p.Leu220MetfsTer?) c.921_927dup (p.Leu310MetfsTer?) c.399_405dup (p.Leu136MetfsTer?) c.963_969dup (p.Leu324MetfsTer?) c.132_138dup (p.Leu47MetfsTer?) | |
| 12 | g.51915376C>A | CA384901042 | ACVRL1 | c.654C>A (p.Cys218Ter) c.924C>A (p.Cys308Ter) c.402C>A (p.Cys134Ter) c.966C>A (p.Cys322Ter) c.135C>A (p.Cys45Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915376C= | CA2036269493 | ACVRL1 | c.654C= (p.Cys218=) c.924C= (p.Cys308=) c.402C= (p.Cys134=) c.966C= (p.Cys322=) c.135C= (p.Cys45=) | |
| 12 | g.51915376C>G | CA384901039 | ACVRL1 | c.654C>G (p.Cys218Trp) c.924C>G (p.Cys308Trp) c.402C>G (p.Cys134Trp) c.966C>G (p.Cys322Trp) c.135C>G (p.Cys45Trp) | |
| 12 | g.51915376C>T | CA480063225 | ACVRL1 | c.654C>T (p.Cys218=) c.924C>T (p.Cys308=) c.402C>T (p.Cys134=) c.966C>T (p.Cys322=) c.135C>T (p.Cys45=) | dbSNP gnomAD v4 |
| 12 | g.51915377G>A | CA384901046 | ACVRL1 | c.655G>A (p.Gly219Ser) c.925G>A (p.Gly309Ser) c.403G>A (p.Gly135Ser) c.967G>A (p.Gly323Ser) c.136G>A (p.Gly46Ser) | ClinVar dbSNP |
| 12 | g.51915377G>C | CA384901048 | ACVRL1 | c.655G>C (p.Gly219Arg) c.925G>C (p.Gly309Arg) c.403G>C (p.Gly135Arg) c.967G>C (p.Gly323Arg) c.136G>C (p.Gly46Arg) | ClinVar dbSNP |
| 12 | g.51915377G= | CA2036269494 | ACVRL1 | c.655G= (p.Gly219=) c.925G= (p.Gly309=) c.403G= (p.Gly135=) c.967G= (p.Gly323=) c.136G= (p.Gly46=) | |
| 12 | g.51915377G>T | CA384901051 | ACVRL1 | c.655G>T (p.Gly219Cys) c.925G>T (p.Gly309Cys) c.403G>T (p.Gly135Cys) c.967G>T (p.Gly323Cys) c.136G>T (p.Gly46Cys) | |
| 12 | g.51915378G>A | CA384901054 | ACVRL1 | c.656G>A (p.Gly219Asp) c.926G>A (p.Gly309Asp) c.404G>A (p.Gly135Asp) c.968G>A (p.Gly323Asp) c.137G>A (p.Gly46Asp) | ClinVar |
| 12 | g.51915378G>C | CA384901056 | ACVRL1 | c.656G>C (p.Gly219Ala) c.926G>C (p.Gly309Ala) c.404G>C (p.Gly135Ala) c.968G>C (p.Gly323Ala) c.137G>C (p.Gly46Ala) | |
| 12 | g.51915378G>T | CA384901058 | ACVRL1 | c.656G>T (p.Gly219Val) c.926G>T (p.Gly309Val) c.404G>T (p.Gly135Val) c.968G>T (p.Gly323Val) c.137G>T (p.Gly46Val) | ClinVar COSMIC COSMIC |
| 12 | g.51915379C>A | CA6573018 | ACVRL1 | c.657C>A (p.Gly219=) c.927C>A (p.Gly309=) c.405C>A (p.Gly135=) c.969C>A (p.Gly323=) c.138C>A (p.Gly46=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915379C= | CA2036269497 | ACVRL1 | c.657C= (p.Gly219=) c.927C= (p.Gly309=) c.405C= (p.Gly135=) c.969C= (p.Gly323=) c.138C= (p.Gly46=) | |
| 12 | g.51915379C>G | CA480063226 | ACVRL1 | c.657C>G (p.Gly219=) c.927C>G (p.Gly309=) c.405C>G (p.Gly135=) c.969C>G (p.Gly323=) c.138C>G (p.Gly46=) | |
| 12 | g.51915379C>T | CA480063227 | ACVRL1 | c.657C>T (p.Gly219=) c.927C>T (p.Gly309=) c.405C>T (p.Gly135=) c.969C>T (p.Gly323=) c.138C>T (p.Gly46=) | gnomAD v4 |
| 12 | g.51915379_51915380delinsAT | CA915948524 | ACVRL1 | c.657_658delinsAT (p.Gly219=) c.927_928delinsAT (p.Gly309=) c.405_406delinsAT (p.Gly135=) c.969_970delinsAT (p.Gly323=) c.138_139delinsAT (p.Gly46=) | ClinVar dbSNP |
| 12 | g.51915379_51915380delinsCC | CA2036269496 | ACVRL1 | c.657_658delinsCC (p.Gly219=) c.927_928delinsCC (p.Gly309=) c.405_406delinsCC (p.Gly135=) c.969_970delinsCC (p.Gly323=) c.138_139delinsCC (p.Gly46=) | |
| 12 | g.51915379_51915383delinsCCTGG | CA2036269495 | ACVRL1 | c.657_661delinsCCTGG (p.Gly219=) c.927_931delinsCCTGG (p.Gly309=) c.405_409delinsCCTGG (p.Gly135=) c.969_973delinsCCTGG (p.Gly323=) c.138_142delinsCCTGG (p.Gly46=) | |
| 12 | g.51915380C>A | CA384901069 | ACVRL1 | c.658C>A (p.Leu220Met) c.928C>A (p.Leu310Met) c.406C>A (p.Leu136Met) c.970C>A (p.Leu324Met) c.139C>A (p.Leu47Met) | |
| 12 | g.51915380C= | CA2036269498 | ACVRL1 | c.658C= (p.Leu220=) c.928C= (p.Leu310=) c.406C= (p.Leu136=) c.970C= (p.Leu324=) c.139C= (p.Leu47=) | |
| 12 | g.51915380C>G | CA384901077 | ACVRL1 | c.658C>G (p.Leu220Val) c.928C>G (p.Leu310Val) c.406C>G (p.Leu136Val) c.970C>G (p.Leu324Val) c.139C>G (p.Leu47Val) | gnomAD v4 |
| 12 | g.51915380C>T | CA6573019 | ACVRL1 | c.658C>T (p.Leu220=) c.928C>T (p.Leu310=) c.406C>T (p.Leu136=) c.970C>T (p.Leu324=) c.139C>T (p.Leu47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915381_51915384del | CA1139662702 | ACVRL1 | c.659_662del (p.Leu220ArgfsTer?) c.929_932del (p.Leu310ArgfsTer?) c.407_410del (p.Leu136ArgfsTer?) c.971_974del (p.Leu324ArgfsTer?) c.140_143del (p.Leu47ArgfsTer?) | ClinVar dbSNP |
| 12 | g.51915381T>A | CA384901081 | ACVRL1 | c.659T>A (p.Leu220Gln) c.929T>A (p.Leu310Gln) c.407T>A (p.Leu136Gln) c.971T>A (p.Leu324Gln) c.140T>A (p.Leu47Gln) | |
| 12 | g.51915381T>C | CA384901083 | ACVRL1 | c.659T>C (p.Leu220Pro) c.929T>C (p.Leu310Pro) c.407T>C (p.Leu136Pro) c.971T>C (p.Leu324Pro) c.140T>C (p.Leu47Pro) | |
| 12 | g.51915381T>G | CA384901085 | ACVRL1 | c.659T>G (p.Leu220Arg) c.929T>G (p.Leu310Arg) c.407T>G (p.Leu136Arg) c.971T>G (p.Leu324Arg) c.140T>G (p.Leu47Arg) | |
| 12 | g.51915382G>A | CA480063231 | ACVRL1 | c.660G>A (p.Leu220=) c.930G>A (p.Leu310=) c.408G>A (p.Leu136=) c.972G>A (p.Leu324=) c.141G>A (p.Leu47=) | gnomAD v4 |
| 12 | g.51915382G>C | CA480063228 | ACVRL1 | c.660G>C (p.Leu220=) c.930G>C (p.Leu310=) c.408G>C (p.Leu136=) c.972G>C (p.Leu324=) c.141G>C (p.Leu47=) | |
| 12 | g.51915382G>T | CA480063229 | ACVRL1 | c.660G>T (p.Leu220=) c.930G>T (p.Leu310=) c.408G>T (p.Leu136=) c.972G>T (p.Leu324=) c.141G>T (p.Leu47=) | |
| 12 | g.51915383dup | CA2573148783 | ACVRL1 | c.661dup (p.Ala221GlyfsTer?) c.931dup (p.Ala311GlyfsTer?) c.409dup (p.Ala137GlyfsTer?) c.973dup (p.Ala325GlyfsTer?) c.142dup (p.Ala48GlyfsTer?) | ClinVar dbSNP |
| 12 | g.51915383G>A | CA6573020 | ACVRL1 | c.661G>A (p.Ala221Thr) c.931G>A (p.Ala311Thr) c.409G>A (p.Ala137Thr) c.973G>A (p.Ala325Thr) c.142G>A (p.Ala48Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915383G>C | CA384901108 | ACVRL1 | c.661G>C (p.Ala221Pro) c.931G>C (p.Ala311Pro) c.409G>C (p.Ala137Pro) c.973G>C (p.Ala325Pro) c.142G>C (p.Ala48Pro) | ClinVar dbSNP |
| 12 | g.51915383G= | CA2036269499 | ACVRL1 | c.661G= (p.Ala221=) c.931G= (p.Ala311=) c.409G= (p.Ala137=) c.973G= (p.Ala325=) c.142G= (p.Ala48=) | |
| 12 | g.51915383G>T | CA384901093 | ACVRL1 | c.661G>T (p.Ala221Ser) c.931G>T (p.Ala311Ser) c.409G>T (p.Ala137Ser) c.973G>T (p.Ala325Ser) c.142G>T (p.Ala48Ser) | |
| 12 | g.51915384C>A | CA384901113 | ACVRL1 | c.662C>A (p.Ala221Glu) c.932C>A (p.Ala311Glu) c.410C>A (p.Ala137Glu) c.974C>A (p.Ala325Glu) c.143C>A (p.Ala48Glu) | |
| 12 | g.51915384C= | CA2036269500 | ACVRL1 | c.662C= (p.Ala221=) c.932C= (p.Ala311=) c.410C= (p.Ala137=) c.974C= (p.Ala325=) c.143C= (p.Ala48=) | |
| 12 | g.51915384C>G | CA6573021 | ACVRL1 | c.662C>G (p.Ala221Gly) c.932C>G (p.Ala311Gly) c.410C>G (p.Ala137Gly) c.974C>G (p.Ala325Gly) c.143C>G (p.Ala48Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915384C>T | CA384901114 | ACVRL1 | c.662C>T (p.Ala221Val) c.932C>T (p.Ala311Val) c.410C>T (p.Ala137Val) c.974C>T (p.Ala325Val) c.143C>T (p.Ala48Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.51915385G>A | CA6573022 | ACVRL1 | c.663G>A (p.Ala221=) c.933G>A (p.Ala311=) c.411G>A (p.Ala137=) c.975G>A (p.Ala325=) c.144G>A (p.Ala48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915385G>C | CA480063233 | ACVRL1 | c.663G>C (p.Ala221=) c.933G>C (p.Ala311=) c.411G>C (p.Ala137=) c.975G>C (p.Ala325=) c.144G>C (p.Ala48=) | ClinVar |
| 12 | g.51915385G= | CA2036269501 | ACVRL1 | c.663G= (p.Ala221=) c.933G= (p.Ala311=) c.411G= (p.Ala137=) c.975G= (p.Ala325=) c.144G= (p.Ala48=) | |
| 12 | g.51915385G>T | CA480063234 | ACVRL1 | c.663G>T (p.Ala221=) c.933G>T (p.Ala311=) c.411G>T (p.Ala137=) c.975G>T (p.Ala325=) c.144G>T (p.Ala48=) | |
| 12 | g.51915386C>A | CA384901116 | ACVRL1 | c.664C>A (p.His222Asn) c.934C>A (p.His312Asn) c.412C>A (p.His138Asn) c.976C>A (p.His326Asn) c.145C>A (p.His49Asn) | |
| 12 | g.51915386C>G | CA384901119 | ACVRL1 | c.664C>G (p.His222Asp) c.934C>G (p.His312Asp) c.412C>G (p.His138Asp) c.976C>G (p.His326Asp) c.145C>G (p.His49Asp) | |
| 12 | g.51915386C>T | CA384901129 | ACVRL1 | c.664C>T (p.His222Tyr) c.934C>T (p.His312Tyr) c.412C>T (p.His138Tyr) c.976C>T (p.His326Tyr) c.145C>T (p.His49Tyr) | |
| 12 | g.51915387A= | CA2036269502 | ACVRL1 | c.665A= (p.His222=) c.935A= (p.His312=) c.413A= (p.His138=) c.977A= (p.His326=) c.146A= (p.His49=) | |
| 12 | g.51915387A>C | CA384901133 | ACVRL1 | c.665A>C (p.His222Pro) c.935A>C (p.His312Pro) c.413A>C (p.His138Pro) c.977A>C (p.His326Pro) c.146A>C (p.His49Pro) | ClinVar dbSNP |
| 12 | g.51915387A>G | CA384901135 | ACVRL1 | c.665A>G (p.His222Arg) c.935A>G (p.His312Arg) c.413A>G (p.His138Arg) c.977A>G (p.His326Arg) c.146A>G (p.His49Arg) | |
| 12 | g.51915387A>T | CA384901137 | ACVRL1 | c.665A>T (p.His222Leu) c.935A>T (p.His312Leu) c.413A>T (p.His138Leu) c.977A>T (p.His326Leu) c.146A>T (p.His49Leu) |