UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.51915375G>A | CA384901017 | ACVRL1 | c.653G>A (p.Cys218Tyr) c.923G>A (p.Cys308Tyr) c.401G>A (p.Cys134Tyr) c.965G>A (p.Cys322Tyr) c.134G>A (p.Cys45Tyr) | |
| 12 | g.51915375G>C | CA384901020 | ACVRL1 | c.653G>C (p.Cys218Ser) c.923G>C (p.Cys308Ser) c.401G>C (p.Cys134Ser) c.965G>C (p.Cys322Ser) c.134G>C (p.Cys45Ser) | |
| 12 | g.51915375G>T | CA384901035 | ACVRL1 | c.653G>T (p.Cys218Phe) c.923G>T (p.Cys308Phe) c.401G>T (p.Cys134Phe) c.965G>T (p.Cys322Phe) c.134G>T (p.Cys45Phe) | |
| 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) | |
| 12 | g.51915388C>A | CA384901143 | ACVRL1 | c.666C>A (p.His222Gln) c.936C>A (p.His312Gln) c.414C>A (p.His138Gln) c.978C>A (p.His326Gln) c.147C>A (p.His49Gln) | |
| 12 | g.51915388C= | CA2036269503 | ACVRL1 | c.666C= (p.His222=) c.936C= (p.His312=) c.414C= (p.His138=) c.978C= (p.His326=) c.147C= (p.His49=) | |
| 12 | g.51915388C>G | CA384901156 | ACVRL1 | c.666C>G (p.His222Gln) c.936C>G (p.His312Gln) c.414C>G (p.His138Gln) c.978C>G (p.His326Gln) c.147C>G (p.His49Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51915388C>T | CA480063236 | ACVRL1 | c.666C>T (p.His222=) c.936C>T (p.His312=) c.414C>T (p.His138=) c.978C>T (p.His326=) c.147C>T (p.His49=) | |
| 12 | g.51915389C>A | CA384901158 | ACVRL1 | c.667C>A (p.Leu223Met) c.937C>A (p.Leu313Met) c.415C>A (p.Leu139Met) c.979C>A (p.Leu327Met) c.148C>A (p.Leu50Met) | |
| 12 | g.51915389C>G | CA384901162 | ACVRL1 | c.667C>G (p.Leu223Val) c.937C>G (p.Leu313Val) c.415C>G (p.Leu139Val) c.979C>G (p.Leu327Val) c.148C>G (p.Leu50Val) | |
| 12 | g.51915389C>T | CA480063237 | ACVRL1 | c.667C>T (p.Leu223=) c.937C>T (p.Leu313=) c.415C>T (p.Leu139=) c.979C>T (p.Leu327=) c.148C>T (p.Leu50=) | gnomAD v4 |
| 12 | g.51915390T>A | CA384901170 | ACVRL1 | c.668T>A (p.Leu223Gln) c.938T>A (p.Leu313Gln) c.416T>A (p.Leu139Gln) c.980T>A (p.Leu327Gln) c.149T>A (p.Leu50Gln) | |
| 12 | g.51915390T>C | CA384901176 | ACVRL1 | c.668T>C (p.Leu223Pro) c.938T>C (p.Leu313Pro) c.416T>C (p.Leu139Pro) c.980T>C (p.Leu327Pro) c.149T>C (p.Leu50Pro) | |
| 12 | g.51915390T>G | CA384901168 | ACVRL1 | c.668T>G (p.Leu223Arg) c.938T>G (p.Leu313Arg) c.416T>G (p.Leu139Arg) c.980T>G (p.Leu327Arg) c.149T>G (p.Leu50Arg) | ClinVar |
| 12 | g.51915391G>A | CA480063238 | ACVRL1 | c.669G>A (p.Leu223=) c.939G>A (p.Leu313=) c.417G>A (p.Leu139=) c.981G>A (p.Leu327=) c.150G>A (p.Leu50=) | |
| 12 | g.51915391G>C | CA480063240 | ACVRL1 | c.669G>C (p.Leu223=) c.939G>C (p.Leu313=) c.417G>C (p.Leu139=) c.981G>C (p.Leu327=) c.150G>C (p.Leu50=) | |
| 12 | g.51915391G>T | CA480063242 | ACVRL1 | c.669G>T (p.Leu223=) c.939G>T (p.Leu313=) c.417G>T (p.Leu139=) c.981G>T (p.Leu327=) c.150G>T (p.Leu50=) | |
| 12 | g.51915392C>A | CA384901179 | ACVRL1 | c.670C>A (p.His224Asn) c.940C>A (p.His314Asn) c.418C>A (p.His140Asn) c.982C>A (p.His328Asn) c.151C>A (p.His51Asn) | ClinVar dbSNP |
| 12 | g.51915392C= | CA2036269504 | ACVRL1 | c.670C= (p.His224=) c.940C= (p.His314=) c.418C= (p.His140=) c.982C= (p.His328=) c.151C= (p.His51=) | |
| 12 | g.51915392C>G | CA384901180 | ACVRL1 | c.670C>G (p.His224Asp) c.940C>G (p.His314Asp) c.418C>G (p.His140Asp) c.982C>G (p.His328Asp) c.151C>G (p.His51Asp) | |
| 12 | g.51915392C>T | CA384901181 | ACVRL1 | c.670C>T (p.His224Tyr) c.940C>T (p.His314Tyr) c.418C>T (p.His140Tyr) c.982C>T (p.His328Tyr) c.151C>T (p.His51Tyr) | ClinVar dbSNP |
| 12 | g.51915393_51915403del | CA2695216747 | ACVRL1 | c.671_681del (p.His224LeufsTer?) c.941_951del (p.His314LeufsTer?) c.419_429del (p.His140LeufsTer?) c.983_993del (p.His328LeufsTer?) c.152_162del (p.His51LeufsTer?) | |
| 12 | g.51915393A>C | CA384901182 | ACVRL1 | c.671A>C (p.His224Pro) c.941A>C (p.His314Pro) c.419A>C (p.His140Pro) c.983A>C (p.His328Pro) c.152A>C (p.His51Pro) | |
| 12 | g.51915393A>G | CA384901183 | ACVRL1 | c.671A>G (p.His224Arg) c.941A>G (p.His314Arg) c.419A>G (p.His140Arg) c.983A>G (p.His328Arg) c.152A>G (p.His51Arg) | |
| 12 | g.51915393A>T | CA384901186 | ACVRL1 | c.671A>T (p.His224Leu) c.941A>T (p.His314Leu) c.419A>T (p.His140Leu) c.983A>T (p.His328Leu) c.152A>T (p.His51Leu) | |
| 12 | g.51915394C>A | CA384901188 | ACVRL1 | c.672C>A (p.His224Gln) c.942C>A (p.His314Gln) c.420C>A (p.His140Gln) c.984C>A (p.His328Gln) c.153C>A (p.His51Gln) | |
| 12 | g.51915394C>G | CA384901187 | ACVRL1 | c.672C>G (p.His224Gln) c.942C>G (p.His314Gln) c.420C>G (p.His140Gln) c.984C>G (p.His328Gln) c.153C>G (p.His51Gln) | |
| 12 | g.51915394C>T | CA480063246 | ACVRL1 | c.672C>T (p.His224=) c.942C>T (p.His314=) c.420C>T (p.His140=) c.984C>T (p.His328=) c.153C>T (p.His51=) | |
| 12 | g.51915395G>A | CA384901189 | ACVRL1 | c.673G>A (p.Val225Met) c.943G>A (p.Val315Met) c.421G>A (p.Val141Met) c.985G>A (p.Val329Met) c.154G>A (p.Val52Met) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915395G>C | CA384901190 | ACVRL1 | c.673G>C (p.Val225Leu) c.943G>C (p.Val315Leu) c.421G>C (p.Val141Leu) c.985G>C (p.Val329Leu) c.154G>C (p.Val52Leu) | dbSNP gnomAD v2 |
| 12 | g.51915395G= | CA2036269505 | ACVRL1 | c.673G= (p.Val225=) c.943G= (p.Val315=) c.421G= (p.Val141=) c.985G= (p.Val329=) c.154G= (p.Val52=) | |
| 12 | g.51915395G>T | CA384901191 | ACVRL1 | c.673G>T (p.Val225Leu) c.943G>T (p.Val315Leu) c.421G>T (p.Val141Leu) c.985G>T (p.Val329Leu) c.154G>T (p.Val52Leu) | |
| 12 | g.51915396T>A | CA384901193 | ACVRL1 | c.674T>A (p.Val225Glu) c.944T>A (p.Val315Glu) c.422T>A (p.Val141Glu) c.986T>A (p.Val329Glu) c.155T>A (p.Val52Glu) | |
| 12 | g.51915396T>C | CA384901203 | ACVRL1 | c.674T>C (p.Val225Ala) c.944T>C (p.Val315Ala) c.422T>C (p.Val141Ala) c.986T>C (p.Val329Ala) c.155T>C (p.Val52Ala) | |
| 12 | g.51915396T>G | CA384901205 | ACVRL1 | c.674T>G (p.Val225Gly) c.944T>G (p.Val315Gly) c.422T>G (p.Val141Gly) c.986T>G (p.Val329Gly) c.155T>G (p.Val52Gly) | |
| 12 | g.51915397G>A | CA480063248 | ACVRL1 | c.675G>A (p.Val225=) c.945G>A (p.Val315=) c.423G>A (p.Val141=) c.987G>A (p.Val329=) c.156G>A (p.Val52=) | gnomAD v4 |
| 12 | g.51915397G>C | CA480063249 | ACVRL1 | c.675G>C (p.Val225=) c.945G>C (p.Val315=) c.423G>C (p.Val141=) c.987G>C (p.Val329=) c.156G>C (p.Val52=) | |
| 12 | g.51915397G>T | CA480063250 | ACVRL1 | c.675G>T (p.Val225=) c.945G>T (p.Val315=) c.423G>T (p.Val141=) c.987G>T (p.Val329=) c.156G>T (p.Val52=) | |
| 12 | g.51915398G>A | CA384901209 | ACVRL1 | c.676G>A (p.Glu226Lys) c.946G>A (p.Glu316Lys) c.424G>A (p.Glu142Lys) c.988G>A (p.Glu330Lys) c.157G>A (p.Glu53Lys) | gnomAD v4 |
| 12 | g.51915398G>C | CA384901213 | ACVRL1 | c.676G>C (p.Glu226Gln) c.946G>C (p.Glu316Gln) c.424G>C (p.Glu142Gln) c.988G>C (p.Glu330Gln) c.157G>C (p.Glu53Gln) | |
| 12 | g.51915398G= | CA2036269506 | ACVRL1 | c.676G= (p.Glu226=) c.946G= (p.Glu316=) c.424G= (p.Glu142=) c.988G= (p.Glu330=) c.157G= (p.Glu53=) | |
| 12 | g.51915398G>T | CA384901211 | ACVRL1 | c.676G>T (p.Glu226Ter) c.946G>T (p.Glu316Ter) c.424G>T (p.Glu142Ter) c.988G>T (p.Glu330Ter) c.157G>T (p.Glu53Ter) | dbSNP gnomAD v2 |
| 12 | g.51915399A>C | CA384901214 | ACVRL1 | c.677A>C (p.Glu226Ala) c.947A>C (p.Glu316Ala) c.425A>C (p.Glu142Ala) c.989A>C (p.Glu330Ala) c.158A>C (p.Glu53Ala) | |
| 12 | g.51915399A>G | CA384901216 | ACVRL1 | c.677A>G (p.Glu226Gly) c.947A>G (p.Glu316Gly) c.425A>G (p.Glu142Gly) c.989A>G (p.Glu330Gly) c.158A>G (p.Glu53Gly) | |
| 12 | g.51915399A>T | CA384901220 | ACVRL1 | c.677A>T (p.Glu226Val) c.947A>T (p.Glu316Val) c.425A>T (p.Glu142Val) c.989A>T (p.Glu330Val) c.158A>T (p.Glu53Val) | |
| 12 | g.51915400G>A | CA480063251 | ACVRL1 | c.678G>A (p.Glu226=) c.948G>A (p.Glu316=) c.426G>A (p.Glu142=) c.990G>A (p.Glu330=) c.159G>A (p.Glu53=) | dbSNP |
| 12 | g.51915400G>C | CA6573023 | ACVRL1 | c.678G>C (p.Glu226Asp) c.948G>C (p.Glu316Asp) c.426G>C (p.Glu142Asp) c.990G>C (p.Glu330Asp) c.159G>C (p.Glu53Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915400G= | CA2036269507 | ACVRL1 | c.678G= (p.Glu226=) c.948G= (p.Glu316=) c.426G= (p.Glu142=) c.990G= (p.Glu330=) c.159G= (p.Glu53=) | |
| 12 | g.51915400G>T | CA384901225 | ACVRL1 | c.678G>T (p.Glu226Asp) c.948G>T (p.Glu316Asp) c.426G>T (p.Glu142Asp) c.990G>T (p.Glu330Asp) c.159G>T (p.Glu53Asp) | dbSNP gnomAD v4 |
| 12 | g.51915401A>C | CA384901228 | ACVRL1 | c.679A>C (p.Ile227Leu) c.949A>C (p.Ile317Leu) c.427A>C (p.Ile143Leu) c.991A>C (p.Ile331Leu) c.160A>C (p.Ile54Leu) | |
| 12 | g.51915401A>G | CA384901230 | ACVRL1 | c.679A>G (p.Ile227Val) c.949A>G (p.Ile317Val) c.427A>G (p.Ile143Val) c.991A>G (p.Ile331Val) c.160A>G (p.Ile54Val) | |
| 12 | g.51915401A>T | CA384901233 | ACVRL1 | c.679A>T (p.Ile227Phe) c.949A>T (p.Ile317Phe) c.427A>T (p.Ile143Phe) c.991A>T (p.Ile331Phe) c.160A>T (p.Ile54Phe) | |
| 12 | g.51915402T>A | CA384901235 | ACVRL1 | c.680T>A (p.Ile227Asn) c.950T>A (p.Ile317Asn) c.428T>A (p.Ile143Asn) c.992T>A (p.Ile331Asn) c.161T>A (p.Ile54Asn) | |
| 12 | g.51915402T>C | CA384901237 | ACVRL1 | c.680T>C (p.Ile227Thr) c.950T>C (p.Ile317Thr) c.428T>C (p.Ile143Thr) c.992T>C (p.Ile331Thr) c.161T>C (p.Ile54Thr) | ClinVar dbSNP |
| 12 | g.51915402T>G | CA384901239 | ACVRL1 | c.680T>G (p.Ile227Ser) c.950T>G (p.Ile317Ser) c.428T>G (p.Ile143Ser) c.992T>G (p.Ile331Ser) c.161T>G (p.Ile54Ser) | |
| 12 | g.51915402T= | CA2036269508 | ACVRL1 | c.680T= (p.Ile227=) c.950T= (p.Ile317=) c.428T= (p.Ile143=) c.992T= (p.Ile331=) c.161T= (p.Ile54=) | |
| 12 | g.51915403C>A | CA480063252 | ACVRL1 | c.681C>A (p.Ile227=) c.951C>A (p.Ile317=) c.429C>A (p.Ile143=) c.993C>A (p.Ile331=) c.162C>A (p.Ile54=) | |
| 12 | g.51915403C>G | CA384901241 | ACVRL1 | c.681C>G (p.Ile227Met) c.951C>G (p.Ile317Met) c.429C>G (p.Ile143Met) c.993C>G (p.Ile331Met) c.162C>G (p.Ile54Met) | |
| 12 | g.51915403C>T | CA480063253 | ACVRL1 | c.681C>T (p.Ile227=) c.951C>T (p.Ile317=) c.429C>T (p.Ile143=) c.993C>T (p.Ile331=) c.162C>T (p.Ile54=) | |
| 12 | g.51915403_51915404delinsCT | CA2036269509 | ACVRL1 | c.681_682delinsCT (p.Ile227=) c.951_952delinsCT (p.Ile317=) c.429_430delinsCT (p.Ile143=) c.993_994delinsCT (p.Ile331=) c.162_163delinsCT (p.Ile54=) | |
| 12 | g.51915404T>A | CA384901246 | ACVRL1 | c.682T>A (p.Phe228Ile) c.952T>A (p.Phe318Ile) c.430T>A (p.Phe144Ile) c.994T>A (p.Phe332Ile) c.163T>A (p.Phe55Ile) | |
| 12 | g.51915404T>C | CA384901244 | ACVRL1 | c.682T>C (p.Phe228Leu) c.952T>C (p.Phe318Leu) c.430T>C (p.Phe144Leu) c.994T>C (p.Phe332Leu) c.163T>C (p.Phe55Leu) | |
| 12 | g.51915404T>G | CA384901248 | ACVRL1 | c.682T>G (p.Phe228Val) c.952T>G (p.Phe318Val) c.430T>G (p.Phe144Val) c.994T>G (p.Phe332Val) c.163T>G (p.Phe55Val) | |
| 12 | g.51915405del | CA605238840 | ACVRL1 | c.683del (p.Phe228SerfsTer?) c.953del (p.Phe318SerfsTer?) c.431del (p.Phe144SerfsTer?) c.995del (p.Phe332SerfsTer?) c.164del (p.Phe55SerfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915405T>A | CA384901250 | ACVRL1 | c.683T>A (p.Phe228Tyr) c.953T>A (p.Phe318Tyr) c.431T>A (p.Phe144Tyr) c.995T>A (p.Phe332Tyr) c.164T>A (p.Phe55Tyr) | |
| 12 | g.51915405T>C | CA384901261 | ACVRL1 | c.683T>C (p.Phe228Ser) c.953T>C (p.Phe318Ser) c.431T>C (p.Phe144Ser) c.995T>C (p.Phe332Ser) c.164T>C (p.Phe55Ser) | |
| 12 | g.51915405T>G | CA384901259 | ACVRL1 | c.683T>G (p.Phe228Cys) c.953T>G (p.Phe318Cys) c.431T>G (p.Phe144Cys) c.995T>G (p.Phe332Cys) c.164T>G (p.Phe55Cys) | |
| 12 | g.51915406C>A | CA384901268 | ACVRL1 | c.684C>A (p.Phe228Leu) c.954C>A (p.Phe318Leu) c.432C>A (p.Phe144Leu) c.996C>A (p.Phe332Leu) c.165C>A (p.Phe55Leu) | |
| 12 | g.51915406C= | CA2036269510 | ACVRL1 | c.684C= (p.Phe228=) c.954C= (p.Phe318=) c.432C= (p.Phe144=) c.996C= (p.Phe332=) c.165C= (p.Phe55=) | |
| 12 | g.51915406C>G | CA384901272 | ACVRL1 | c.684C>G (p.Phe228Leu) c.954C>G (p.Phe318Leu) c.432C>G (p.Phe144Leu) c.996C>G (p.Phe332Leu) c.165C>G (p.Phe55Leu) | |
| 12 | g.51915406C>T | CA6573024 | ACVRL1 | c.684C>T (p.Phe228=) c.954C>T (p.Phe318=) c.432C>T (p.Phe144=) c.996C>T (p.Phe332=) c.165C>T (p.Phe55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915407G>A | CA384901282 | ACVRL1 | c.685G>A (p.Gly229Ser) c.955G>A (p.Gly319Ser) c.433G>A (p.Gly145Ser) c.997G>A (p.Gly333Ser) c.166G>A (p.Gly56Ser) | dbSNP gnomAD v4 |
| 12 | g.51915407G>C | CA384901287 | ACVRL1 | c.685G>C (p.Gly229Arg) c.955G>C (p.Gly319Arg) c.433G>C (p.Gly145Arg) c.997G>C (p.Gly333Arg) c.166G>C (p.Gly56Arg) | ClinVar dbSNP |
| 12 | g.51915407G= | CA2036269511 | ACVRL1 | c.685G= (p.Gly229=) c.955G= (p.Gly319=) c.433G= (p.Gly145=) c.997G= (p.Gly333=) c.166G= (p.Gly56=) | |
| 12 | g.51915407G>T | CA384901288 | ACVRL1 | c.685G>T (p.Gly229Cys) c.955G>T (p.Gly319Cys) c.433G>T (p.Gly145Cys) c.997G>T (p.Gly333Cys) c.166G>T (p.Gly56Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915408G>A | CA384901289 | ACVRL1 | c.686G>A (p.Gly229Asp) c.956G>A (p.Gly319Asp) c.434G>A (p.Gly145Asp) c.998G>A (p.Gly333Asp) c.167G>A (p.Gly56Asp) | ClinVar |
| 12 | g.51915408G>C | CA384901292 | ACVRL1 | c.686G>C (p.Gly229Ala) c.956G>C (p.Gly319Ala) c.434G>C (p.Gly145Ala) c.998G>C (p.Gly333Ala) c.167G>C (p.Gly56Ala) | gnomAD v4 |
| 12 | g.51915408G>T | CA384901297 | ACVRL1 | c.686G>T (p.Gly229Val) c.956G>T (p.Gly319Val) c.434G>T (p.Gly145Val) c.998G>T (p.Gly333Val) c.167G>T (p.Gly56Val) | |
| 12 | g.51915409T>A | CA480063254 | ACVRL1 | c.687T>A (p.Gly229=) c.957T>A (p.Gly319=) c.435T>A (p.Gly145=) c.999T>A (p.Gly333=) c.168T>A (p.Gly56=) | |
| 12 | g.51915409T>C | CA6573025 | ACVRL1 | c.687T>C (p.Gly229=) c.957T>C (p.Gly319=) c.435T>C (p.Gly145=) c.999T>C (p.Gly333=) c.168T>C (p.Gly56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915409T>G | CA480063255 | ACVRL1 | c.687T>G (p.Gly229=) c.957T>G (p.Gly319=) c.435T>G (p.Gly145=) c.999T>G (p.Gly333=) c.168T>G (p.Gly56=) | |
| 12 | g.51915409T= | CA2036269513 | ACVRL1 | c.687T= (p.Gly229=) c.957T= (p.Gly319=) c.435T= (p.Gly145=) c.999T= (p.Gly333=) c.168T= (p.Gly56=) | |
| 12 | g.51915409_51915414delinsTACACA | CA2036269512 | ACVRL1 | c.687_692delinsTACACA (p.Gly229=) c.957_962delinsTACACA (p.Gly319=) c.435_440delinsTACACA (p.Gly145=) c.999_1004delinsTACACA (p.Gly333=) c.168_173delinsTACACA (p.Gly56=) | |
| 12 | g.51915410A>C | CA384901298 | ACVRL1 | c.688A>C (p.Thr230Pro) c.958A>C (p.Thr320Pro) c.436A>C (p.Thr146Pro) c.1000A>C (p.Thr334Pro) c.169A>C (p.Thr57Pro) | |
| 12 | g.51915410A>G | CA384901306 | ACVRL1 | c.688A>G (p.Thr230Ala) c.958A>G (p.Thr320Ala) c.436A>G (p.Thr146Ala) c.1000A>G (p.Thr334Ala) c.169A>G (p.Thr57Ala) | |
| 12 | g.51915410A>T | CA384901307 | ACVRL1 | c.688A>T (p.Thr230Ser) c.958A>T (p.Thr320Ser) c.436A>T (p.Thr146Ser) c.1000A>T (p.Thr334Ser) c.169A>T (p.Thr57Ser) | |
| 12 | g.51915410_51915414del | CA605238841 | ACVRL1 | c.688_692del (p.Thr230GlyfsTer?) c.958_962del (p.Thr320GlyfsTer?) c.436_440del (p.Thr146GlyfsTer?) c.1000_1004del (p.Thr334GlyfsTer?) c.169_173del (p.Thr57GlyfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915411C>A | CA384901314 | ACVRL1 | c.689C>A (p.Thr230Lys) c.959C>A (p.Thr320Lys) c.437C>A (p.Thr146Lys) c.1001C>A (p.Thr334Lys) c.170C>A (p.Thr57Lys) | |
| 12 | g.51915411C>G | CA384901311 | ACVRL1 | c.689C>G (p.Thr230Arg) c.959C>G (p.Thr320Arg) c.437C>G (p.Thr146Arg) c.1001C>G (p.Thr334Arg) c.170C>G (p.Thr57Arg) | |
| 12 | g.51915411C>T | CA384901308 | ACVRL1 | c.689C>T (p.Thr230Ile) c.959C>T (p.Thr320Ile) c.437C>T (p.Thr146Ile) c.1001C>T (p.Thr334Ile) c.170C>T (p.Thr57Ile) | |
| 12 | g.51915412A>C | CA480063256 | ACVRL1 | c.690A>C (p.Thr230=) c.960A>C (p.Thr320=) c.438A>C (p.Thr146=) c.1002A>C (p.Thr334=) c.171A>C (p.Thr57=) | |
| 12 | g.51915412A>G | CA480063257 | ACVRL1 | c.690A>G (p.Thr230=) c.960A>G (p.Thr320=) c.438A>G (p.Thr146=) c.1002A>G (p.Thr334=) c.171A>G (p.Thr57=) | |
| 12 | g.51915412A>T | CA480063258 | ACVRL1 | c.690A>T (p.Thr230=) c.960A>T (p.Thr320=) c.438A>T (p.Thr146=) c.1002A>T (p.Thr334=) c.171A>T (p.Thr57=) | |
| 12 | g.51915413C>A | CA384901319 | ACVRL1 | c.691C>A (p.Gln231Lys) c.961C>A (p.Gln321Lys) c.439C>A (p.Gln147Lys) c.1003C>A (p.Gln335Lys) c.172C>A (p.Gln58Lys) | |
| 12 | g.51915413C>G | CA384901322 | ACVRL1 | c.691C>G (p.Gln231Glu) c.961C>G (p.Gln321Glu) c.439C>G (p.Gln147Glu) c.1003C>G (p.Gln335Glu) c.172C>G (p.Gln58Glu) | |
| 12 | g.51915413C>T | CA384901324 | ACVRL1 | c.691C>T (p.Gln231Ter) c.961C>T (p.Gln321Ter) c.439C>T (p.Gln147Ter) c.1003C>T (p.Gln335Ter) c.172C>T (p.Gln58Ter) | ClinVar dbSNP |
| 12 | g.51915414A>C | CA384901325 | ACVRL1 | c.692A>C (p.Gln231Pro) c.962A>C (p.Gln321Pro) c.440A>C (p.Gln147Pro) c.1004A>C (p.Gln335Pro) c.173A>C (p.Gln58Pro) | |
| 12 | g.51915414A>G | CA384901326 | ACVRL1 | c.692A>G (p.Gln231Arg) c.962A>G (p.Gln321Arg) c.440A>G (p.Gln147Arg) c.1004A>G (p.Gln335Arg) c.173A>G (p.Gln58Arg) | |
| 12 | g.51915414A>T | CA384901327 | ACVRL1 | c.692A>T (p.Gln231Leu) c.962A>T (p.Gln321Leu) c.440A>T (p.Gln147Leu) c.1004A>T (p.Gln335Leu) c.173A>T (p.Gln58Leu) | |
| 12 | g.51915414_51915415del | CA2580086484 | ACVRL1 | c.692_693del (p.Gln231ArgfsTer?) c.962_963del (p.Gln321ArgfsTer?) c.440_441del (p.Gln147ArgfsTer?) c.1004_1005del (p.Gln335ArgfsTer?) c.173_174del (p.Gln58ArgfsTer?) | ClinVar |
| 12 | g.51915415G>A | CA480063259 | ACVRL1 | c.693G>A (p.Gln231=) c.963G>A (p.Gln321=) c.441G>A (p.Gln147=) c.1005G>A (p.Gln335=) c.174G>A (p.Gln58=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915415G>C | CA384901329 | ACVRL1 | c.693G>C (p.Gln231His) c.963G>C (p.Gln321His) c.441G>C (p.Gln147His) c.1005G>C (p.Gln335His) c.174G>C (p.Gln58His) | |
| 12 | g.51915415G>T | CA384901331 | ACVRL1 | c.693G>T (p.Gln231His) c.963G>T (p.Gln321His) c.441G>T (p.Gln147His) c.1005G>T (p.Gln335His) c.174G>T (p.Gln58His) | |
| 12 | g.51915416G>A | CA384901333 | ACVRL1 | c.694G>A (p.Gly232Ser) c.964G>A (p.Gly322Ser) c.442G>A (p.Gly148Ser) c.1006G>A (p.Gly336Ser) c.175G>A (p.Gly59Ser) | |
| 12 | g.51915416G>C | CA384901340 | ACVRL1 | c.694G>C (p.Gly232Arg) c.964G>C (p.Gly322Arg) c.442G>C (p.Gly148Arg) c.1006G>C (p.Gly336Arg) c.175G>C (p.Gly59Arg) | |
| 12 | g.51915416G= | CA2036269514 | ACVRL1 | c.694G= (p.Gly232=) c.964G= (p.Gly322=) c.442G= (p.Gly148=) c.1006G= (p.Gly336=) c.175G= (p.Gly59=) | |
| 12 | g.51915416G>T | CA384901342 | ACVRL1 | c.694G>T (p.Gly232Cys) c.964G>T (p.Gly322Cys) c.442G>T (p.Gly148Cys) c.1006G>T (p.Gly336Cys) c.175G>T (p.Gly59Cys) | |
| 12 | g.51915416_51915417insTC | CA605238842 | ACVRL1 | c.694_695insTC (p.Gly232ValfsTer?) c.964_965insTC (p.Gly322ValfsTer?) c.442_443insTC (p.Gly148ValfsTer?) c.1006_1007insTC (p.Gly336ValfsTer?) c.175_176insTC (p.Gly59ValfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915417G>A | CA6573026 | ACVRL1 | c.695G>A (p.Gly232Asp) c.965G>A (p.Gly322Asp) c.443G>A (p.Gly148Asp) c.1007G>A (p.Gly336Asp) c.176G>A (p.Gly59Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51915417G>C | CA384901344 | ACVRL1 | c.695G>C (p.Gly232Ala) c.965G>C (p.Gly322Ala) c.443G>C (p.Gly148Ala) c.1007G>C (p.Gly336Ala) c.176G>C (p.Gly59Ala) | |
| 12 | g.51915417G= | CA2036269515 | ACVRL1 | c.695G= (p.Gly232=) c.965G= (p.Gly322=) c.443G= (p.Gly148=) c.1007G= (p.Gly336=) c.176G= (p.Gly59=) | |
| 12 | g.51915417G>T | CA384901343 | ACVRL1 | c.695G>T (p.Gly232Val) c.965G>T (p.Gly322Val) c.443G>T (p.Gly148Val) c.1007G>T (p.Gly336Val) c.176G>T (p.Gly59Val) | |
| 12 | g.51915418C>A | CA480063260 | ACVRL1 | c.696C>A (p.Gly232=) c.966C>A (p.Gly322=) c.444C>A (p.Gly148=) c.1008C>A (p.Gly336=) c.177C>A (p.Gly59=) | |
| 12 | g.51915418C= | CA2036269516 | ACVRL1 | c.696C= (p.Gly232=) c.966C= (p.Gly322=) c.444C= (p.Gly148=) c.1008C= (p.Gly336=) c.177C= (p.Gly59=) | |
| 12 | g.51915418C>G | CA480063261 | ACVRL1 | c.696C>G (p.Gly232=) c.966C>G (p.Gly322=) c.444C>G (p.Gly148=) c.1008C>G (p.Gly336=) c.177C>G (p.Gly59=) | gnomAD v4 |
| 12 | g.51915418C>T | CA480063262 | ACVRL1 | c.696C>T (p.Gly232=) c.966C>T (p.Gly322=) c.444C>T (p.Gly148=) c.1008C>T (p.Gly336=) c.177C>T (p.Gly59=) | |
| 12 | g.51915418_51915419insCGTATCATTA | CA605238843 | ACVRL1 | c.696_697insCGTATCATTA (p.Lys233ArgfsTer?) c.966_967insCGTATCATTA (p.Lys323ArgfsTer?) c.444_445insCGTATCATTA (p.Lys149ArgfsTer?) c.1008_1009insCGTATCATTA (p.Lys337ArgfsTer?) c.177_178insCGTATCATTA (p.Lys60ArgfsTer?) | dbSNP gnomAD v2 |
| 12 | g.51915419A>C | CA384901345 | ACVRL1 | c.697A>C (p.Lys233Gln) c.967A>C (p.Lys323Gln) c.445A>C (p.Lys149Gln) c.1009A>C (p.Lys337Gln) c.178A>C (p.Lys60Gln) | |
| 12 | g.51915419A>G | CA384901351 | ACVRL1 | c.697A>G (p.Lys233Glu) c.967A>G (p.Lys323Glu) c.445A>G (p.Lys149Glu) c.1009A>G (p.Lys337Glu) c.178A>G (p.Lys60Glu) | ClinVar |
| 12 | g.51915419A>T | CA384901353 | ACVRL1 | c.697A>T (p.Lys233Ter) c.967A>T (p.Lys323Ter) c.445A>T (p.Lys149Ter) c.1009A>T (p.Lys337Ter) c.178A>T (p.Lys60Ter) | |
| 12 | g.51915421dup | CA2695216748 | ACVRL1 | c.699dup (p.Pro234ThrfsTer?) c.969dup (p.Pro324ThrfsTer?) c.447dup (p.Pro150ThrfsTer?) c.1011dup (p.Pro338ThrfsTer?) c.180dup (p.Pro61ThrfsTer?) | |
| 12 | g.51915420A>C | CA384901356 | ACVRL1 | c.698A>C (p.Lys233Thr) c.968A>C (p.Lys323Thr) c.446A>C (p.Lys149Thr) c.1010A>C (p.Lys337Thr) c.179A>C (p.Lys60Thr) | ClinVar |
| 12 | g.51915420A>G | CA384901358 | ACVRL1 | c.698A>G (p.Lys233Arg) c.968A>G (p.Lys323Arg) c.446A>G (p.Lys149Arg) c.1010A>G (p.Lys337Arg) c.179A>G (p.Lys60Arg) | |
| 12 | g.51915420A>T | CA384901360 | ACVRL1 | c.698A>T (p.Lys233Ile) c.968A>T (p.Lys323Ile) c.446A>T (p.Lys149Ile) c.1010A>T (p.Lys337Ile) c.179A>T (p.Lys60Ile) | |
| 12 | g.51915421A= | CA2036269517 | ACVRL1 | c.699A= (p.Lys233=) c.969A= (p.Lys323=) c.447A= (p.Lys149=) c.1011A= (p.Lys337=) c.180A= (p.Lys60=) | |
| 12 | g.51915421A>C | CA6573027 | ACVRL1 | c.699A>C (p.Lys233Asn) c.969A>C (p.Lys323Asn) c.447A>C (p.Lys149Asn) c.1011A>C (p.Lys337Asn) c.180A>C (p.Lys60Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915421A>G | CA480063263 | ACVRL1 | c.699A>G (p.Lys233=) c.969A>G (p.Lys323=) c.447A>G (p.Lys149=) c.1011A>G (p.Lys337=) c.180A>G (p.Lys60=) | ClinVar gnomAD v4 |
| 12 | g.51915421A>T | CA384901366 | ACVRL1 | c.699A>T (p.Lys233Asn) c.969A>T (p.Lys323Asn) c.447A>T (p.Lys149Asn) c.1011A>T (p.Lys337Asn) c.180A>T (p.Lys60Asn) | |
| 12 | g.51915422C>A | CA384901368 | ACVRL1 | c.700C>A (p.Pro234Thr) c.970C>A (p.Pro324Thr) c.448C>A (p.Pro150Thr) c.1012C>A (p.Pro338Thr) c.181C>A (p.Pro61Thr) | |
| 12 | g.51915422C>G | CA384901371 | ACVRL1 | c.700C>G (p.Pro234Ala) c.970C>G (p.Pro324Ala) c.448C>G (p.Pro150Ala) c.1012C>G (p.Pro338Ala) c.181C>G (p.Pro61Ala) | |
| 12 | g.51915422C>T | CA384901373 | ACVRL1 | c.700C>T (p.Pro234Ser) c.970C>T (p.Pro324Ser) c.448C>T (p.Pro150Ser) c.1012C>T (p.Pro338Ser) c.181C>T (p.Pro61Ser) | |
| 12 | g.51915422_51915427del | CA2565860346 | ACVRL1 | c.700_705del (p.Pro234_Ala235del) c.970_975del (p.Pro324_Ala325del) c.448_453del (p.Pro150_Ala151del) c.1012_1017del (p.Pro338_Ala339del) c.181_186del (p.Pro61_Ala62del) | |
| 12 | g.51915423C>A | CA6573028 | ACVRL1 | c.701C>A (p.Pro234Gln) c.971C>A (p.Pro324Gln) c.449C>A (p.Pro150Gln) c.1013C>A (p.Pro338Gln) c.182C>A (p.Pro61Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915423C= | CA2036269518 | ACVRL1 | c.701C= (p.Pro234=) c.971C= (p.Pro324=) c.449C= (p.Pro150=) c.1013C= (p.Pro338=) c.182C= (p.Pro61=) | |
| 12 | g.51915423C>G | CA384901377 | ACVRL1 | c.701C>G (p.Pro234Arg) c.971C>G (p.Pro324Arg) c.449C>G (p.Pro150Arg) c.1013C>G (p.Pro338Arg) c.182C>G (p.Pro61Arg) | |
| 12 | g.51915423C>T | CA384901375 | ACVRL1 | c.701C>T (p.Pro234Leu) c.971C>T (p.Pro324Leu) c.449C>T (p.Pro150Leu) c.1013C>T (p.Pro338Leu) c.182C>T (p.Pro61Leu) | COSMIC COSMIC |
| 12 | g.51915423_51915424insGCGACAAG | CA2580086485 | ACVRL1 | c.701_702insGCGACAAG (p.Ala235ArgfsTer32) c.971_972insGCGACAAG (p.Ala325ArgfsTer32) c.449_450insGCGACAAG (p.Ala151ArgfsTer32) c.1013_1014insGCGACAAG (p.Ala339ArgfsTer32) c.182_183insGCGACAAG (p.Ala62ArgfsTer32) | ClinVar |
| 12 | g.51915424del | CA2695216749 | ACVRL1 | c.702del (p.Ala235ProfsTer29) c.972del (p.Ala325ProfsTer29) c.450del (p.Ala151ProfsTer29) c.1014del (p.Ala339ProfsTer29) c.183del (p.Ala62ProfsTer29) | |
| 12 | g.51915424A= | CA2036269519 | ACVRL1 | c.702A= (p.Pro234=) c.972A= (p.Pro324=) c.450A= (p.Pro150=) c.1014A= (p.Pro338=) c.183A= (p.Pro61=) | |
| 12 | g.51915424A>C | CA480063266 | ACVRL1 | c.702A>C (p.Pro234=) c.972A>C (p.Pro324=) c.450A>C (p.Pro150=) c.1014A>C (p.Pro338=) c.183A>C (p.Pro61=) | |
| 12 | g.51915424A>G | CA480063265 | ACVRL1 | c.702A>G (p.Pro234=) c.972A>G (p.Pro324=) c.450A>G (p.Pro150=) c.1014A>G (p.Pro338=) c.183A>G (p.Pro61=) | dbSNP gnomAD v2 |
| 12 | g.51915424A>T | CA480063264 | ACVRL1 | c.702A>T (p.Pro234=) c.972A>T (p.Pro324=) c.450A>T (p.Pro150=) c.1014A>T (p.Pro338=) c.183A>T (p.Pro61=) | |
| 12 | g.51915425G>A | CA384901381 | ACVRL1 | c.703G>A (p.Ala235Thr) c.973G>A (p.Ala325Thr) c.451G>A (p.Ala151Thr) c.1015G>A (p.Ala339Thr) c.184G>A (p.Ala62Thr) | |
| 12 | g.51915425G>C | CA384901385 | ACVRL1 | c.703G>C (p.Ala235Pro) c.973G>C (p.Ala325Pro) c.451G>C (p.Ala151Pro) c.1015G>C (p.Ala339Pro) c.184G>C (p.Ala62Pro) | |
| 12 | g.51915425G>T | CA384901392 | ACVRL1 | c.703G>T (p.Ala235Ser) c.973G>T (p.Ala325Ser) c.451G>T (p.Ala151Ser) c.1015G>T (p.Ala339Ser) c.184G>T (p.Ala62Ser) | |
| 12 | g.51915426C>A | CA384901396 | ACVRL1 | c.704C>A (p.Ala235Asp) c.974C>A (p.Ala325Asp) c.452C>A (p.Ala151Asp) c.1016C>A (p.Ala339Asp) c.185C>A (p.Ala62Asp) | |
| 12 | g.51915426C>G | CA384901397 | ACVRL1 | c.704C>G (p.Ala235Gly) c.974C>G (p.Ala325Gly) c.452C>G (p.Ala151Gly) c.1016C>G (p.Ala339Gly) c.185C>G (p.Ala62Gly) | ClinVar |
| 12 | g.51915426C>T | CA384901398 | ACVRL1 | c.704C>T (p.Ala235Val) c.974C>T (p.Ala325Val) c.452C>T (p.Ala151Val) c.1016C>T (p.Ala339Val) c.185C>T (p.Ala62Val) | |
| 12 | g.51915427C>A | CA480063267 | ACVRL1 | c.705C>A (p.Ala235=) c.975C>A (p.Ala325=) c.453C>A (p.Ala151=) c.1017C>A (p.Ala339=) c.186C>A (p.Ala62=) | |
| 12 | g.51915427C>G | CA480063268 | ACVRL1 | c.705C>G (p.Ala235=) c.975C>G (p.Ala325=) c.453C>G (p.Ala151=) c.1017C>G (p.Ala339=) c.186C>G (p.Ala62=) | |
| 12 | g.51915427C>T | CA480063269 | ACVRL1 | c.705C>T (p.Ala235=) c.975C>T (p.Ala325=) c.453C>T (p.Ala151=) c.1017C>T (p.Ala339=) c.186C>T (p.Ala62=) | |
| 12 | g.51915428A= | CA2036269520 | ACVRL1 | c.706A= (p.Ile236=) c.976A= (p.Ile326=) c.454A= (p.Ile152=) c.1018A= (p.Ile340=) c.187A= (p.Ile63=) | |
| 12 | g.51915428A>C | CA384901399 | ACVRL1 | c.706A>C (p.Ile236Leu) c.976A>C (p.Ile326Leu) c.454A>C (p.Ile152Leu) c.1018A>C (p.Ile340Leu) c.187A>C (p.Ile63Leu) | |
| 12 | g.51915428A>G | CA236364146 | ACVRL1 | c.706A>G (p.Ile236Val) c.976A>G (p.Ile326Val) c.454A>G (p.Ile152Val) c.1018A>G (p.Ile340Val) c.187A>G (p.Ile63Val) | dbSNP gnomAD v4 |
| 12 | g.51915428A>T | CA384901400 | ACVRL1 | c.706A>T (p.Ile236Phe) c.976A>T (p.Ile326Phe) c.454A>T (p.Ile152Phe) c.1018A>T (p.Ile340Phe) c.187A>T (p.Ile63Phe) | |
| 12 | g.51915429T>A | CA384901401 | ACVRL1 | c.707T>A (p.Ile236Asn) c.977T>A (p.Ile326Asn) c.455T>A (p.Ile152Asn) c.1019T>A (p.Ile340Asn) c.188T>A (p.Ile63Asn) | |
| 12 | g.51915429T>C | CA384901402 | ACVRL1 | c.707T>C (p.Ile236Thr) c.977T>C (p.Ile326Thr) c.455T>C (p.Ile152Thr) c.1019T>C (p.Ile340Thr) c.188T>C (p.Ile63Thr) | ClinVar |
| 12 | g.51915429T>G | CA384901404 | ACVRL1 | c.707T>G (p.Ile236Ser) c.977T>G (p.Ile326Ser) c.455T>G (p.Ile152Ser) c.1019T>G (p.Ile340Ser) c.188T>G (p.Ile63Ser) | |
| 12 | g.51915430T>A | CA480063270 | ACVRL1 | c.708T>A (p.Ile236=) c.978T>A (p.Ile326=) c.456T>A (p.Ile152=) c.1020T>A (p.Ile340=) c.189T>A (p.Ile63=) | |
| 12 | g.51915430T>C | CA6573029 | ACVRL1 | c.708T>C (p.Ile236=) c.978T>C (p.Ile326=) c.456T>C (p.Ile152=) c.1020T>C (p.Ile340=) c.189T>C (p.Ile63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915430T>G | CA384901406 | ACVRL1 | c.708T>G (p.Ile236Met) c.978T>G (p.Ile326Met) c.456T>G (p.Ile152Met) c.1020T>G (p.Ile340Met) c.189T>G (p.Ile63Met) | |
| 12 | g.51915430T= | CA2036269521 | ACVRL1 | c.708T= (p.Ile236=) c.978T= (p.Ile326=) c.456T= (p.Ile152=) c.1020T= (p.Ile340=) c.189T= (p.Ile63=) | |
| 12 | g.51915431G>A | CA384901410 | ACVRL1 | c.709G>A (p.Ala237Thr) c.979G>A (p.Ala327Thr) c.457G>A (p.Ala153Thr) c.1021G>A (p.Ala341Thr) c.190G>A (p.Ala64Thr) | |
| 12 | g.51915431G>C | CA384901417 | ACVRL1 | c.709G>C (p.Ala237Pro) c.979G>C (p.Ala327Pro) c.457G>C (p.Ala153Pro) c.1021G>C (p.Ala341Pro) c.190G>C (p.Ala64Pro) | ClinVar dbSNP |
| 12 | g.51915431G= | CA2036269522 | ACVRL1 | c.709G= (p.Ala237=) c.979G= (p.Ala327=) c.457G= (p.Ala153=) c.1021G= (p.Ala341=) c.190G= (p.Ala64=) | |
| 12 | g.51915431G>T | CA384901416 | ACVRL1 | c.709G>T (p.Ala237Ser) c.979G>T (p.Ala327Ser) c.457G>T (p.Ala153Ser) c.1021G>T (p.Ala341Ser) c.190G>T (p.Ala64Ser) | |
| 12 | g.51915432C>A | CA384901418 | ACVRL1 | c.710C>A (p.Ala237Asp) c.980C>A (p.Ala327Asp) c.458C>A (p.Ala153Asp) c.1022C>A (p.Ala341Asp) c.191C>A (p.Ala64Asp) | ClinVar dbSNP |
| 12 | g.51915432C= | CA2036269523 | ACVRL1 | c.710C= (p.Ala237=) c.980C= (p.Ala327=) c.458C= (p.Ala153=) c.1022C= (p.Ala341=) c.191C= (p.Ala64=) | |
| 12 | g.51915432C>G | CA384901419 | ACVRL1 | c.710C>G (p.Ala237Gly) c.980C>G (p.Ala327Gly) c.458C>G (p.Ala153Gly) c.1022C>G (p.Ala341Gly) c.191C>G (p.Ala64Gly) | |
| 12 | g.51915432C>T | CA6573030 | ACVRL1 | c.710C>T (p.Ala237Val) c.980C>T (p.Ala327Val) c.458C>T (p.Ala153Val) c.1022C>T (p.Ala341Val) c.191C>T (p.Ala64Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915433C>A | CA480063271 | ACVRL1 | c.711C>A (p.Ala237=) c.981C>A (p.Ala327=) c.459C>A (p.Ala153=) c.1023C>A (p.Ala341=) c.192C>A (p.Ala64=) | |
| 12 | g.51915433C>G | CA480063272 | ACVRL1 | c.711C>G (p.Ala237=) c.981C>G (p.Ala327=) c.459C>G (p.Ala153=) c.1023C>G (p.Ala341=) c.192C>G (p.Ala64=) | |
| 12 | g.51915433C>T | CA480063273 | ACVRL1 | c.711C>T (p.Ala237=) c.981C>T (p.Ala327=) c.459C>T (p.Ala153=) c.1023C>T (p.Ala341=) c.192C>T (p.Ala64=) | gnomAD v4 |
| 12 | g.51915434C>A | CA384901421 | ACVRL1 | c.712C>A (p.His238Asn) c.982C>A (p.His328Asn) c.460C>A (p.His154Asn) c.1024C>A (p.His342Asn) c.193C>A (p.His65Asn) | |
| 12 | g.51915434C= | CA2036269524 | ACVRL1 | c.712C= (p.His238=) c.982C= (p.His328=) c.460C= (p.His154=) c.1024C= (p.His342=) c.193C= (p.His65=) | |
| 12 | g.51915434C>G | CA384901422 | ACVRL1 | c.712C>G (p.His238Asp) c.982C>G (p.His328Asp) c.460C>G (p.His154Asp) c.1024C>G (p.His342Asp) c.193C>G (p.His65Asp) | ClinVar dbSNP |
| 12 | g.51915434C>T | CA384901425 | ACVRL1 | c.712C>T (p.His238Tyr) c.982C>T (p.His328Tyr) c.460C>T (p.His154Tyr) c.1024C>T (p.His342Tyr) c.193C>T (p.His65Tyr) | ClinVar dbSNP |
| 12 | g.51915435A>C | CA384901430 | ACVRL1 | c.713A>C (p.His238Pro) c.983A>C (p.His328Pro) c.461A>C (p.His154Pro) c.1025A>C (p.His342Pro) c.194A>C (p.His65Pro) | ClinVar dbSNP |
| 12 | g.51915435A>G | CA384901432 | ACVRL1 | c.713A>G (p.His238Arg) c.983A>G (p.His328Arg) c.461A>G (p.His154Arg) c.1025A>G (p.His342Arg) c.194A>G (p.His65Arg) | ClinVar |
| 12 | g.51915435A>T | CA384901433 | ACVRL1 | c.713A>T (p.His238Leu) c.983A>T (p.His328Leu) c.461A>T (p.His154Leu) c.1025A>T (p.His342Leu) c.194A>T (p.His65Leu) | |
| 12 | g.51915436C>A | CA384901435 | ACVRL1 | c.714C>A (p.His238Gln) c.984C>A (p.His328Gln) c.462C>A (p.His154Gln) c.1026C>A (p.His342Gln) c.195C>A (p.His65Gln) | ClinVar dbSNP |
| 12 | g.51915436C= | CA2036269525 | ACVRL1 | c.714C= (p.His238=) c.984C= (p.His328=) c.462C= (p.His154=) c.1026C= (p.His342=) c.195C= (p.His65=) | |
| 12 | g.51915436C>G | CA384901436 | ACVRL1 | c.714C>G (p.His238Gln) c.984C>G (p.His328Gln) c.462C>G (p.His154Gln) c.1026C>G (p.His342Gln) c.195C>G (p.His65Gln) | |
| 12 | g.51915436C>T | CA480063274 | ACVRL1 | c.714C>T (p.His238=) c.984C>T (p.His328=) c.462C>T (p.His154=) c.1026C>T (p.His342=) c.195C>T (p.His65=) | |
| 12 | g.51915437C>A | CA384901446 | ACVRL1 | c.715C>A (p.Arg239Ser) c.985C>A (p.Arg329Ser) c.463C>A (p.Arg155Ser) c.1027C>A (p.Arg343Ser) c.196C>A (p.Arg66Ser) | |
| 12 | g.51915437C>G | CA384901443 | ACVRL1 | c.715C>G (p.Arg239Gly) c.985C>G (p.Arg329Gly) c.463C>G (p.Arg155Gly) c.1027C>G (p.Arg343Gly) c.196C>G (p.Arg66Gly) | |
| 12 | g.51915437C>T | CA384901438 | ACVRL1 | c.715C>T (p.Arg239Cys) c.985C>T (p.Arg329Cys) c.463C>T (p.Arg155Cys) c.1027C>T (p.Arg343Cys) c.196C>T (p.Arg66Cys) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915438G>A | CA321832 | ACVRL1 | c.716G>A (p.Arg239His) c.986G>A (p.Arg329His) c.464G>A (p.Arg155His) c.1028G>A (p.Arg343His) c.197G>A (p.Arg66His) | ClinVar dbSNP gnomAD v2 |
| 12 | g.51915438G>C | CA384901448 | ACVRL1 | c.716G>C (p.Arg239Pro) c.986G>C (p.Arg329Pro) c.464G>C (p.Arg155Pro) c.1028G>C (p.Arg343Pro) c.197G>C (p.Arg66Pro) | |
| 12 | g.51915438G= | CA2036269526 | ACVRL1 | c.716G= (p.Arg239=) c.986G= (p.Arg329=) c.464G= (p.Arg155=) c.1028G= (p.Arg343=) c.197G= (p.Arg66=) | |
| 12 | g.51915438G>T | CA384901449 | ACVRL1 | c.716G>T (p.Arg239Leu) c.986G>T (p.Arg329Leu) c.464G>T (p.Arg155Leu) c.1028G>T (p.Arg343Leu) c.197G>T (p.Arg66Leu) | |
| 12 | g.51915439C>A | CA480063275 | ACVRL1 | c.717C>A (p.Arg239=) c.987C>A (p.Arg329=) c.465C>A (p.Arg155=) c.1029C>A (p.Arg343=) c.198C>A (p.Arg66=) | |
| 12 | g.51915439C= | CA2036269527 | ACVRL1 | c.717C= (p.Arg239=) c.987C= (p.Arg329=) c.465C= (p.Arg155=) c.1029C= (p.Arg343=) c.198C= (p.Arg66=) | |
| 12 | g.51915439C>G | CA480063276 | ACVRL1 | c.717C>G (p.Arg239=) c.987C>G (p.Arg329=) c.465C>G (p.Arg155=) c.1029C>G (p.Arg343=) c.198C>G (p.Arg66=) | |
| 12 | g.51915439C>T | CA6573031 | ACVRL1 | c.717C>T (p.Arg239=) c.987C>T (p.Arg329=) c.465C>T (p.Arg155=) c.1029C>T (p.Arg343=) c.198C>T (p.Arg66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915443_51915496del | CA2695216750 | ACVRL1 | c.721_774del (p.Phe241_Asp258del) c.991_1044del (p.Phe331_Asp348del) c.469_522del (p.Phe157_Asp174del) c.1033_1086del (p.Phe345_Asp362del) c.202_255del (p.Phe68_Asp85del) | |
| 12 | g.51915440G>A | CA384901451 | ACVRL1 | c.718G>A (p.Asp240Asn) c.988G>A (p.Asp330Asn) c.466G>A (p.Asp156Asn) c.1030G>A (p.Asp344Asn) c.199G>A (p.Asp67Asn) | ClinVar |
| 12 | g.51915440G>C | CA384901452 | ACVRL1 | c.718G>C (p.Asp240His) c.988G>C (p.Asp330His) c.466G>C (p.Asp156His) c.1030G>C (p.Asp344His) c.199G>C (p.Asp67His) | |
| 12 | g.51915440G>T | CA384901457 | ACVRL1 | c.718G>T (p.Asp240Tyr) c.988G>T (p.Asp330Tyr) c.466G>T (p.Asp156Tyr) c.1030G>T (p.Asp344Tyr) c.199G>T (p.Asp67Tyr) | ClinVar COSMIC COSMIC |
| 12 | g.51915440_51915442delinsTGG | CA2580086486 | ACVRL1 | c.718_720delinsTGG (p.Asp240Trp) c.988_990delinsTGG (p.Asp330Trp) c.466_468delinsTGG (p.Asp156Trp) c.1030_1032delinsTGG (p.Asp344Trp) c.199_201delinsTGG (p.Asp67Trp) | ClinVar |
| 12 | g.51915440_51915446dup | CA2580086487 | ACVRL1 | c.718_724dup (p.Lys242ArgfsTer?) c.988_994dup (p.Lys332ArgfsTer?) c.466_472dup (p.Lys158ArgfsTer?) c.1030_1036dup (p.Lys346ArgfsTer?) c.199_205dup (p.Lys69ArgfsTer?) | ClinVar |
| 12 | g.51915441A= | CA2036269528 | ACVRL1 | c.719A= (p.Asp240=) c.989A= (p.Asp330=) c.467A= (p.Asp156=) c.1031A= (p.Asp344=) c.200A= (p.Asp67=) | |
| 12 | g.51915441A>C | CA384901461 | ACVRL1 | c.719A>C (p.Asp240Ala) c.989A>C (p.Asp330Ala) c.467A>C (p.Asp156Ala) c.1031A>C (p.Asp344Ala) c.200A>C (p.Asp67Ala) | |
| 12 | g.51915441A>G | CA384901463 | ACVRL1 | c.719A>G (p.Asp240Gly) c.989A>G (p.Asp330Gly) c.467A>G (p.Asp156Gly) c.1031A>G (p.Asp344Gly) c.200A>G (p.Asp67Gly) | dbSNP |
| 12 | g.51915441A>T | CA384901466 | ACVRL1 | c.719A>T (p.Asp240Val) c.989A>T (p.Asp330Val) c.467A>T (p.Asp156Val) c.1031A>T (p.Asp344Val) c.200A>T (p.Asp67Val) | |
| 12 | g.51915442C>A | CA384901467 | ACVRL1 | c.720C>A (p.Asp240Glu) c.990C>A (p.Asp330Glu) c.468C>A (p.Asp156Glu) c.1032C>A (p.Asp344Glu) c.201C>A (p.Asp67Glu) | |
| 12 | g.51915442C= | CA2036269529 | ACVRL1 | c.720C= (p.Asp240=) c.990C= (p.Asp330=) c.468C= (p.Asp156=) c.1032C= (p.Asp344=) c.201C= (p.Asp67=) | |
| 12 | g.51915442C>G | CA384901468 | ACVRL1 | c.720C>G (p.Asp240Glu) c.990C>G (p.Asp330Glu) c.468C>G (p.Asp156Glu) c.1032C>G (p.Asp344Glu) c.201C>G (p.Asp67Glu) | ClinVar |
| 12 | g.51915442C>T | CA480063277 | ACVRL1 | c.720C>T (p.Asp240=) c.990C>T (p.Asp330=) c.468C>T (p.Asp156=) c.1032C>T (p.Asp344=) c.201C>T (p.Asp67=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915443T>A | CA384901473 | ACVRL1 | c.721T>A (p.Phe241Ile) c.991T>A (p.Phe331Ile) c.469T>A (p.Phe157Ile) c.1033T>A (p.Phe345Ile) c.202T>A (p.Phe68Ile) | |
| 12 | g.51915443T>C | CA384901471 | ACVRL1 | c.721T>C (p.Phe241Leu) c.991T>C (p.Phe331Leu) c.469T>C (p.Phe157Leu) c.1033T>C (p.Phe345Leu) c.202T>C (p.Phe68Leu) | |
| 12 | g.51915443T>G | CA384901469 | ACVRL1 | c.721T>G (p.Phe241Val) c.991T>G (p.Phe331Val) c.469T>G (p.Phe157Val) c.1033T>G (p.Phe345Val) c.202T>G (p.Phe68Val) | |
| 12 | g.51915444T>A | CA384901477 | ACVRL1 | c.722T>A (p.Phe241Tyr) c.992T>A (p.Phe331Tyr) c.470T>A (p.Phe157Tyr) c.1034T>A (p.Phe345Tyr) c.203T>A (p.Phe68Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915444T>C | CA384901479 | ACVRL1 | c.722T>C (p.Phe241Ser) c.992T>C (p.Phe331Ser) c.470T>C (p.Phe157Ser) c.1034T>C (p.Phe345Ser) c.203T>C (p.Phe68Ser) | ClinVar dbSNP |
| 12 | g.51915444T>G | CA384901481 | ACVRL1 | c.722T>G (p.Phe241Cys) c.992T>G (p.Phe331Cys) c.470T>G (p.Phe157Cys) c.1034T>G (p.Phe345Cys) c.203T>G (p.Phe68Cys) | |
| 12 | g.51915444T= | CA2036269530 | ACVRL1 | c.722T= (p.Phe241=) c.992T= (p.Phe331=) c.470T= (p.Phe157=) c.1034T= (p.Phe345=) c.203T= (p.Phe68=) | |
| 12 | g.51915445C>A | CA384901482 | ACVRL1 | c.723C>A (p.Phe241Leu) c.993C>A (p.Phe331Leu) c.471C>A (p.Phe157Leu) c.1035C>A (p.Phe345Leu) c.204C>A (p.Phe68Leu) | |
| 12 | g.51915445C= | CA2036269531 | ACVRL1 | c.723C= (p.Phe241=) c.993C= (p.Phe331=) c.471C= (p.Phe157=) c.1035C= (p.Phe345=) c.204C= (p.Phe68=) | |
| 12 | g.51915445C>G | CA384901483 | ACVRL1 | c.723C>G (p.Phe241Leu) c.993C>G (p.Phe331Leu) c.471C>G (p.Phe157Leu) c.1035C>G (p.Phe345Leu) c.204C>G (p.Phe68Leu) | |
| 12 | g.51915445C>T | CA6573032 | ACVRL1 | c.723C>T (p.Phe241=) c.993C>T (p.Phe331=) c.471C>T (p.Phe157=) c.1035C>T (p.Phe345=) c.204C>T (p.Phe68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915446A>C | CA384901487 | ACVRL1 | c.724A>C (p.Lys242Gln) c.994A>C (p.Lys332Gln) c.472A>C (p.Lys158Gln) c.1036A>C (p.Lys346Gln) c.205A>C (p.Lys69Gln) | |
| 12 | g.51915446A>G | CA384901484 | ACVRL1 | c.724A>G (p.Lys242Glu) c.994A>G (p.Lys332Glu) c.472A>G (p.Lys158Glu) c.1036A>G (p.Lys346Glu) c.205A>G (p.Lys69Glu) | ClinVar dbSNP |
| 12 | g.51915446A>T | CA384901485 | ACVRL1 | c.724A>T (p.Lys242Ter) c.994A>T (p.Lys332Ter) c.472A>T (p.Lys158Ter) c.1036A>T (p.Lys346Ter) c.205A>T (p.Lys69Ter) | |
| 12 | g.51915447A>C | CA384901488 | ACVRL1 | c.725A>C (p.Lys242Thr) c.995A>C (p.Lys332Thr) c.473A>C (p.Lys158Thr) c.1037A>C (p.Lys346Thr) c.206A>C (p.Lys69Thr) | |
| 12 | g.51915447A>G | CA384901490 | ACVRL1 | c.725A>G (p.Lys242Arg) c.995A>G (p.Lys332Arg) c.473A>G (p.Lys158Arg) c.1037A>G (p.Lys346Arg) c.206A>G (p.Lys69Arg) | ClinVar dbSNP |
| 12 | g.51915447A>T | CA384901499 | ACVRL1 | c.725A>T (p.Lys242Met) c.995A>T (p.Lys332Met) c.473A>T (p.Lys158Met) c.1037A>T (p.Lys346Met) c.206A>T (p.Lys69Met) | |
| 12 | g.51915448G>A | CA480063278 | ACVRL1 | c.726G>A (p.Lys242=) c.996G>A (p.Lys332=) c.474G>A (p.Lys158=) c.1038G>A (p.Lys346=) c.1G>A c.207G>A (p.Lys69=) | gnomAD v4 |
| 12 | g.51915448G>C | CA384901505 | ACVRL1 | c.726G>C (p.Lys242Asn) c.996G>C (p.Lys332Asn) c.474G>C (p.Lys158Asn) c.1038G>C (p.Lys346Asn) c.1G>C c.207G>C (p.Lys69Asn) | |
| 12 | g.51915448G>T | CA384901508 | ACVRL1 | c.726G>T (p.Lys242Asn) c.996G>T (p.Lys332Asn) c.474G>T (p.Lys158Asn) c.1038G>T (p.Lys346Asn) c.1G>T c.207G>T (p.Lys69Asn) | |
| 12 | g.51915449A>C | CA384901510 | ACVRL1 | c.727A>C (p.Ser243Arg) c.997A>C (p.Ser333Arg) c.475A>C (p.Ser159Arg) c.1039A>C (p.Ser347Arg) c.2A>C c.208A>C (p.Ser70Arg) | |
| 12 | g.51915449A>G | CA384901513 | ACVRL1 | c.727A>G (p.Ser243Gly) c.997A>G (p.Ser333Gly) c.475A>G (p.Ser159Gly) c.1039A>G (p.Ser347Gly) c.2A>G c.208A>G (p.Ser70Gly) | |
| 12 | g.51915449A>T | CA384901512 | ACVRL1 | c.727A>T (p.Ser243Cys) c.997A>T (p.Ser333Cys) c.475A>T (p.Ser159Cys) c.1039A>T (p.Ser347Cys) c.2A>T c.208A>T (p.Ser70Cys) | ClinVar dbSNP |
| 12 | g.51915450G>A | CA384901515 | ACVRL1 | c.728G>A (p.Ser243Asn) c.998G>A (p.Ser333Asn) c.476G>A (p.Ser159Asn) c.1040G>A (p.Ser347Asn) c.3G>A c.209G>A (p.Ser70Asn) | |
| 12 | g.51915450G>C | CA384901517 | ACVRL1 | c.728G>C (p.Ser243Thr) c.998G>C (p.Ser333Thr) c.476G>C (p.Ser159Thr) c.1040G>C (p.Ser347Thr) c.3G>C c.209G>C (p.Ser70Thr) | |
| 12 | g.51915450G= | CA2036269532 | ACVRL1 | c.728G= (p.Ser243=) c.998G= (p.Ser333=) c.476G= (p.Ser159=) c.1040G= (p.Ser347=) c.3G= c.209G= (p.Ser70=) | |
| 12 | g.51915450G>T | CA322708 | ACVRL1 | c.728G>T (p.Ser243Ile) c.998G>T (p.Ser333Ile) c.476G>T (p.Ser159Ile) c.1040G>T (p.Ser347Ile) c.3G>T c.209G>T (p.Ser70Ile) | ClinVar dbSNP |
| 12 | g.51915451C>A | CA384901522 | ACVRL1 | c.729C>A (p.Ser243Arg) c.999C>A (p.Ser333Arg) c.477C>A (p.Ser159Arg) c.1041C>A (p.Ser347Arg) c.4C>A c.210C>A (p.Ser70Arg) | ClinVar COSMIC |
| 12 | g.51915451C= | CA2036269533 | ACVRL1 | c.729C= (p.Ser243=) c.999C= (p.Ser333=) c.477C= (p.Ser159=) c.1041C= (p.Ser347=) c.4C= c.210C= (p.Ser70=) | |
| 12 | g.51915451C>G | CA384901524 | ACVRL1 | c.729C>G (p.Ser243Arg) c.999C>G (p.Ser333Arg) c.477C>G (p.Ser159Arg) c.1041C>G (p.Ser347Arg) c.4C>G c.210C>G (p.Ser70Arg) | ClinVar dbSNP |
| 12 | g.51915451C>T | CA480063279 | ACVRL1 | c.729C>T (p.Ser243=) c.999C>T (p.Ser333=) c.477C>T (p.Ser159=) c.1041C>T (p.Ser347=) c.4C>T c.210C>T (p.Ser70=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915452del | CA2695216751 | ACVRL1 | c.730del (p.Arg244AlafsTer20) c.1000del (p.Arg334AlafsTer20) c.478del (p.Arg160AlafsTer20) c.1042del (p.Arg348AlafsTer20) c.5del c.211del (p.Arg71AlafsTer20) | |
| 12 | g.51915452C>A | CA384901536 | ACVRL1 | c.730C>A (p.Arg244Ser) c.1000C>A (p.Arg334Ser) c.478C>A (p.Arg160Ser) c.1042C>A (p.Arg348Ser) c.5C>A c.211C>A (p.Arg71Ser) | |
| 12 | g.51915452C= | CA2036269534 | ACVRL1 | c.730C= (p.Arg244=) c.1000C= (p.Arg334=) c.478C= (p.Arg160=) c.1042C= (p.Arg348=) c.5C= c.211C= (p.Arg71=) | |
| 12 | g.51915452C>G | CA384901537 | ACVRL1 | c.730C>G (p.Arg244Gly) c.1000C>G (p.Arg334Gly) c.478C>G (p.Arg160Gly) c.1042C>G (p.Arg348Gly) c.5C>G c.211C>G (p.Arg71Gly) | |
| 12 | g.51915452C>T | CA236364179 | ACVRL1 | c.730C>T (p.Arg244Cys) c.1000C>T (p.Arg334Cys) c.478C>T (p.Arg160Cys) c.1042C>T (p.Arg348Cys) c.5C>T c.211C>T (p.Arg71Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915452_51915457delinsG | CA2695216752 | ACVRL1 | c.730_735delinsG (p.Arg244GlyfsTer?) c.1000_1005delinsG (p.Arg334GlyfsTer?) c.478_483delinsG (p.Arg160GlyfsTer?) c.1042_1047delinsG (p.Arg348GlyfsTer?) c.5_10delinsG c.211_216delinsG (p.Arg71GlyfsTer?) | |
| 12 | g.51915453G>A | CA384901543 | ACVRL1 | c.731G>A (p.Arg244His) c.1001G>A (p.Arg334His) c.479G>A (p.Arg160His) c.1043G>A (p.Arg348His) c.6G>A c.212G>A (p.Arg71His) | dbSNP gnomAD v4 |
| 12 | g.51915453G>C | CA384901571 | ACVRL1 | c.731G>C (p.Arg244Pro) c.1001G>C (p.Arg334Pro) c.479G>C (p.Arg160Pro) c.1043G>C (p.Arg348Pro) c.6G>C c.212G>C (p.Arg71Pro) | |
| 12 | g.51915453G= | CA2036269535 | ACVRL1 | c.731G= (p.Arg244=) c.1001G= (p.Arg334=) c.479G= (p.Arg160=) c.1043G= (p.Arg348=) c.6G= c.212G= (p.Arg71=) | |
| 12 | g.51915453G>T | CA384901577 | ACVRL1 | c.731G>T (p.Arg244Leu) c.1001G>T (p.Arg334Leu) c.479G>T (p.Arg160Leu) c.1043G>T (p.Arg348Leu) c.6G>T c.212G>T (p.Arg71Leu) | |
| 12 | g.51915454C>A | CA480063280 | ACVRL1 | c.732C>A (p.Arg244=) c.1002C>A (p.Arg334=) c.480C>A (p.Arg160=) c.1044C>A (p.Arg348=) c.7C>A c.213C>A (p.Arg71=) | |
| 12 | g.51915454C>G | CA480063281 | ACVRL1 | c.732C>G (p.Arg244=) c.1002C>G (p.Arg334=) c.480C>G (p.Arg160=) c.1044C>G (p.Arg348=) c.7C>G c.213C>G (p.Arg71=) | |
| 12 | g.51915454C>T | CA480063282 | ACVRL1 | c.732C>T (p.Arg244=) c.1002C>T (p.Arg334=) c.480C>T (p.Arg160=) c.1044C>T (p.Arg348=) c.7C>T c.213C>T (p.Arg71=) | |
| 12 | g.51915455A>C | CA384901587 | ACVRL1 | c.733A>C (p.Asn245His) c.1003A>C (p.Asn335His) c.481A>C (p.Asn161His) c.1045A>C (p.Asn349His) c.8A>C c.214A>C (p.Asn72His) | ClinVar dbSNP |
| 12 | g.51915455A>G | CA384901588 | ACVRL1 | c.733A>G (p.Asn245Asp) c.1003A>G (p.Asn335Asp) c.481A>G (p.Asn161Asp) c.1045A>G (p.Asn349Asp) c.8A>G c.214A>G (p.Asn72Asp) | |
| 12 | g.51915455A>T | CA384901583 | ACVRL1 | c.733A>T (p.Asn245Tyr) c.1003A>T (p.Asn335Tyr) c.481A>T (p.Asn161Tyr) c.1045A>T (p.Asn349Tyr) c.8A>T c.214A>T (p.Asn72Tyr) | |
| 12 | g.51915456A= | CA2036269536 | ACVRL1 | c.734A= (p.Asn245=) c.1004A= (p.Asn335=) c.482A= (p.Asn161=) c.1046A= (p.Asn349=) c.9A= c.215A= (p.Asn72=) | |
| 12 | g.51915456A>C | CA384901593 | ACVRL1 | c.734A>C (p.Asn245Thr) c.1004A>C (p.Asn335Thr) c.482A>C (p.Asn161Thr) c.1046A>C (p.Asn349Thr) c.9A>C c.215A>C (p.Asn72Thr) | |
| 12 | g.51915456A>G | CA384901591 | ACVRL1 | c.734A>G (p.Asn245Ser) c.1004A>G (p.Asn335Ser) c.482A>G (p.Asn161Ser) c.1046A>G (p.Asn349Ser) c.9A>G c.215A>G (p.Asn72Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915456A>T | CA16614166 | ACVRL1 | c.734A>T (p.Asn245Ile) c.1004A>T (p.Asn335Ile) c.482A>T (p.Asn161Ile) c.1046A>T (p.Asn349Ile) c.9A>T c.215A>T (p.Asn72Ile) | ClinVar dbSNP |
| 12 | g.51915457T>A | CA384901598 | ACVRL1 | c.735T>A (p.Asn245Lys) c.1005T>A (p.Asn335Lys) c.483T>A (p.Asn161Lys) c.1047T>A (p.Asn349Lys) c.10T>A c.216T>A (p.Asn72Lys) | |
| 12 | g.51915457T>C | CA480063283 | ACVRL1 | c.735T>C (p.Asn245=) c.1005T>C (p.Asn335=) c.483T>C (p.Asn161=) c.1047T>C (p.Asn349=) c.10T>C c.216T>C (p.Asn72=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915457T>G | CA384901601 | ACVRL1 | c.735T>G (p.Asn245Lys) c.1005T>G (p.Asn335Lys) c.483T>G (p.Asn161Lys) c.1047T>G (p.Asn349Lys) c.10T>G c.216T>G (p.Asn72Lys) | |
| 12 | g.51915457T= | CA2036269537 | ACVRL1 | c.735T= (p.Asn245=) c.1005T= (p.Asn335=) c.483T= (p.Asn161=) c.1047T= (p.Asn349=) c.10T= c.216T= (p.Asn72=) | |
| 12 | g.51915458G>A | CA384901606 | ACVRL1 | c.736G>A (p.Val246Met) c.1006G>A (p.Val336Met) c.484G>A (p.Val162Met) c.1048G>A (p.Val350Met) c.11G>A c.217G>A (p.Val73Met) | COSMIC COSMIC |
| 12 | g.51915458G>C | CA384901608 | ACVRL1 | c.736G>C (p.Val246Leu) c.1006G>C (p.Val336Leu) c.484G>C (p.Val162Leu) c.1048G>C (p.Val350Leu) c.11G>C c.217G>C (p.Val73Leu) | |
| 12 | g.51915458G>T | CA384901610 | ACVRL1 | c.736G>T (p.Val246Leu) c.1006G>T (p.Val336Leu) c.484G>T (p.Val162Leu) c.1048G>T (p.Val350Leu) c.11G>T c.217G>T (p.Val73Leu) | |
| 12 | g.51915459T>A | CA384901612 | ACVRL1 | c.737T>A (p.Val246Glu) c.1007T>A (p.Val336Glu) c.485T>A (p.Val162Glu) c.1049T>A (p.Val350Glu) c.12T>A c.218T>A (p.Val73Glu) | ClinVar dbSNP |
| 12 | g.51915459T>C | CA384901614 | ACVRL1 | c.737T>C (p.Val246Ala) c.1007T>C (p.Val336Ala) c.485T>C (p.Val162Ala) c.1049T>C (p.Val350Ala) c.12T>C c.218T>C (p.Val73Ala) | |
| 12 | g.51915459T>G | CA384901615 | ACVRL1 | c.737T>G (p.Val246Gly) c.1007T>G (p.Val336Gly) c.485T>G (p.Val162Gly) c.1049T>G (p.Val350Gly) c.12T>G c.218T>G (p.Val73Gly) | |
| 12 | g.51915459T= | CA2036269538 | ACVRL1 | c.737T= (p.Val246=) c.1007T= (p.Val336=) c.485T= (p.Val162=) c.1049T= (p.Val350=) c.12T= c.218T= (p.Val73=) | |
| 12 | g.51915460G>A | CA480063284 | ACVRL1 | c.738G>A (p.Val246=) c.1008G>A (p.Val336=) c.486G>A (p.Val162=) c.1050G>A (p.Val350=) c.13G>A c.219G>A (p.Val73=) | |
| 12 | g.51915460G>C | CA480063285 | ACVRL1 | c.738G>C (p.Val246=) c.1008G>C (p.Val336=) c.486G>C (p.Val162=) c.1050G>C (p.Val350=) c.13G>C c.219G>C (p.Val73=) | |
| 12 | g.51915460G>T | CA480063286 | ACVRL1 | c.738G>T (p.Val246=) c.1008G>T (p.Val336=) c.486G>T (p.Val162=) c.1050G>T (p.Val350=) c.13G>T c.219G>T (p.Val73=) | gnomAD v4 |
| 12 | g.51915460_51915461del | CA2697554494 | ACVRL1 | c.738_739del (p.Leu247GlyfsTer?) c.1008_1009del (p.Leu337GlyfsTer?) c.486_487del (p.Leu163GlyfsTer?) c.1050_1051del (p.Leu351GlyfsTer?) c.13_14del c.219_220del (p.Leu74GlyfsTer?) | ClinVar |
| 12 | g.51915461C>A | CA384901617 | ACVRL1 | c.739C>A (p.Leu247Met) c.1009C>A (p.Leu337Met) c.487C>A (p.Leu163Met) c.1051C>A (p.Leu351Met) c.14C>A c.220C>A (p.Leu74Met) | dbSNP gnomAD v2 |
| 12 | g.51915461C= | CA2036269539 | ACVRL1 | c.739C= (p.Leu247=) c.1009C= (p.Leu337=) c.487C= (p.Leu163=) c.1051C= (p.Leu351=) c.14C= c.220C= (p.Leu74=) | |
| 12 | g.51915461C>G | CA384901618 | ACVRL1 | c.739C>G (p.Leu247Val) c.1009C>G (p.Leu337Val) c.487C>G (p.Leu163Val) c.1051C>G (p.Leu351Val) c.14C>G c.220C>G (p.Leu74Val) | |
| 12 | g.51915461C>T | CA480063287 | ACVRL1 | c.739C>T (p.Leu247=) c.1009C>T (p.Leu337=) c.487C>T (p.Leu163=) c.1051C>T (p.Leu351=) c.14C>T c.220C>T (p.Leu74=) | |
| 12 | g.51915462del | CA2499221748 | ACVRL1 | c.740del (p.Leu247ArgfsTer17) c.1010del (p.Leu337ArgfsTer17) c.488del (p.Leu163ArgfsTer17) c.1052del (p.Leu351ArgfsTer17) c.15del c.221del (p.Leu74ArgfsTer17) | ClinVar dbSNP |
| 12 | g.51915462T>A | CA384901621 | ACVRL1 | c.740T>A (p.Leu247Gln) c.1010T>A (p.Leu337Gln) c.488T>A (p.Leu163Gln) c.1052T>A (p.Leu351Gln) c.15T>A c.221T>A (p.Leu74Gln) | |
| 12 | g.51915462T>C | CA384901627 | ACVRL1 | c.740T>C (p.Leu247Pro) c.1010T>C (p.Leu337Pro) c.488T>C (p.Leu163Pro) c.1052T>C (p.Leu351Pro) c.15T>C c.221T>C (p.Leu74Pro) | ClinVar dbSNP |
| 12 | g.51915462T>G | CA384901628 | ACVRL1 | c.740T>G (p.Leu247Arg) c.1010T>G (p.Leu337Arg) c.488T>G (p.Leu163Arg) c.1052T>G (p.Leu351Arg) c.15T>G c.221T>G (p.Leu74Arg) | ClinVar |
| 12 | g.51915462T= | CA2036269540 | ACVRL1 | c.740T= (p.Leu247=) c.1010T= (p.Leu337=) c.488T= (p.Leu163=) c.1052T= (p.Leu351=) c.15T= c.221T= (p.Leu74=) | |
| 12 | g.51915463G>A | CA236364185 | ACVRL1 | c.741G>A (p.Leu247=) c.1011G>A (p.Leu337=) c.489G>A (p.Leu163=) c.1053G>A (p.Leu351=) c.16G>A c.222G>A (p.Leu74=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915463G>C | CA480063288 | ACVRL1 | c.741G>C (p.Leu247=) c.1011G>C (p.Leu337=) c.489G>C (p.Leu163=) c.1053G>C (p.Leu351=) c.16G>C c.222G>C (p.Leu74=) | |
| 12 | g.51915463G= | CA2036269541 | ACVRL1 | c.741G= (p.Leu247=) c.1011G= (p.Leu337=) c.489G= (p.Leu163=) c.1053G= (p.Leu351=) c.16G= c.222G= (p.Leu74=) | |
| 12 | g.51915463G>T | CA480063289 | ACVRL1 | c.741G>T (p.Leu247=) c.1011G>T (p.Leu337=) c.489G>T (p.Leu163=) c.1053G>T (p.Leu351=) c.16G>T c.222G>T (p.Leu74=) | |
| 12 | g.51915464G>A | CA384901633 | ACVRL1 | c.742G>A (p.Val248Ile) c.1012G>A (p.Val338Ile) c.490G>A (p.Val164Ile) c.1054G>A (p.Val352Ile) c.17G>A c.223G>A (p.Val75Ile) | |
| 12 | g.51915464G>C | CA384901637 | ACVRL1 | c.742G>C (p.Val248Leu) c.1012G>C (p.Val338Leu) c.490G>C (p.Val164Leu) c.1054G>C (p.Val352Leu) c.17G>C c.223G>C (p.Val75Leu) | |
| 12 | g.51915464G>T | CA384901639 | ACVRL1 | c.742G>T (p.Val248Phe) c.1012G>T (p.Val338Phe) c.490G>T (p.Val164Phe) c.1054G>T (p.Val352Phe) c.17G>T c.223G>T (p.Val75Phe) | ClinVar |
| 12 | g.51915465T>A | CA384901640 | ACVRL1 | c.743T>A (p.Val248Asp) c.1013T>A (p.Val338Asp) c.491T>A (p.Val164Asp) c.1055T>A (p.Val352Asp) c.18T>A c.224T>A (p.Val75Asp) | |
| 12 | g.51915465T>C | CA384901643 | ACVRL1 | c.743T>C (p.Val248Ala) c.1013T>C (p.Val338Ala) c.491T>C (p.Val164Ala) c.1055T>C (p.Val352Ala) c.18T>C c.224T>C (p.Val75Ala) | |
| 12 | g.51915465T>G | CA384901651 | ACVRL1 | c.743T>G (p.Val248Gly) c.1013T>G (p.Val338Gly) c.491T>G (p.Val164Gly) c.1055T>G (p.Val352Gly) c.18T>G c.224T>G (p.Val75Gly) | ClinVar dbSNP |
| 12 | g.51915465T= | CA2036269542 | ACVRL1 | c.743T= (p.Val248=) c.1013T= (p.Val338=) c.491T= (p.Val164=) c.1055T= (p.Val352=) c.18T= c.224T= (p.Val75=) | |
| 12 | g.51915466C>A | CA480063290 | ACVRL1 | c.744C>A (p.Val248=) c.1014C>A (p.Val338=) c.492C>A (p.Val164=) c.1056C>A (p.Val352=) c.19C>A c.225C>A (p.Val75=) | gnomAD v4 |
| 12 | g.51915466C= | CA2036269543 | ACVRL1 | c.744C= (p.Val248=) c.1014C= (p.Val338=) c.492C= (p.Val164=) c.1056C= (p.Val352=) c.19C= c.225C= (p.Val75=) | |
| 12 | g.51915466C>G | CA480063291 | ACVRL1 | c.744C>G (p.Val248=) c.1014C>G (p.Val338=) c.492C>G (p.Val164=) c.1056C>G (p.Val352=) c.19C>G c.225C>G (p.Val75=) | |
| 12 | g.51915466C>T | CA480063292 | ACVRL1 | c.744C>T (p.Val248=) c.1014C>T (p.Val338=) c.492C>T (p.Val164=) c.1056C>T (p.Val352=) c.19C>T c.225C>T (p.Val75=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51915467A= | CA2036269544 | ACVRL1 | c.745A= (p.Lys249=) c.1015A= (p.Lys339=) c.493A= (p.Lys165=) c.1057A= (p.Lys353=) c.20A= c.226A= (p.Lys76=) | |
| 12 | g.51915467A>C | CA384901652 | ACVRL1 | c.745A>C (p.Lys249Gln) c.1015A>C (p.Lys339Gln) c.493A>C (p.Lys165Gln) c.1057A>C (p.Lys353Gln) c.20A>C c.226A>C (p.Lys76Gln) | |
| 12 | g.51915467A>G | CA384901653 | ACVRL1 | c.745A>G (p.Lys249Glu) c.1015A>G (p.Lys339Glu) c.493A>G (p.Lys165Glu) c.1057A>G (p.Lys353Glu) c.20A>G c.226A>G (p.Lys76Glu) | |
| 12 | g.51915467A>T | CA384901655 | ACVRL1 | c.745A>T (p.Lys249Ter) c.1015A>T (p.Lys339Ter) c.493A>T (p.Lys165Ter) c.1057A>T (p.Lys353Ter) c.20A>T c.226A>T (p.Lys76Ter) | ClinVar dbSNP |
| 12 | g.51915468A= | CA2036269545 | ACVRL1 | c.746A= (p.Lys249=) c.1016A= (p.Lys339=) c.494A= (p.Lys165=) c.1058A= (p.Lys353=) c.21A= c.227A= (p.Lys76=) | |
| 12 | g.51915468A>C | CA384901658 | ACVRL1 | c.746A>C (p.Lys249Thr) c.1016A>C (p.Lys339Thr) c.494A>C (p.Lys165Thr) c.1058A>C (p.Lys353Thr) c.21A>C c.227A>C (p.Lys76Thr) | |
| 12 | g.51915468A>G | CA384901659 | ACVRL1 | c.746A>G (p.Lys249Arg) c.1016A>G (p.Lys339Arg) c.494A>G (p.Lys165Arg) c.1058A>G (p.Lys353Arg) c.21A>G c.227A>G (p.Lys76Arg) | dbSNP gnomAD v2 |
| 12 | g.51915468A>T | CA384901662 | ACVRL1 | c.746A>T (p.Lys249Met) c.1016A>T (p.Lys339Met) c.494A>T (p.Lys165Met) c.1058A>T (p.Lys353Met) c.21A>T c.227A>T (p.Lys76Met) | |
| 12 | g.51915469G>A | CA480063293 | ACVRL1 | c.747G>A (p.Lys249=) c.1017G>A (p.Lys339=) c.495G>A (p.Lys165=) c.1059G>A (p.Lys353=) c.22G>A c.228G>A (p.Lys76=) | gnomAD v4 |
| 12 | g.51915469G>C | CA236364199 | ACVRL1 | c.747G>C (p.Lys249Asn) c.1017G>C (p.Lys339Asn) c.495G>C (p.Lys165Asn) c.1059G>C (p.Lys353Asn) c.22G>C c.228G>C (p.Lys76Asn) | dbSNP |
| 12 | g.51915469G= | CA2036269546 | ACVRL1 | c.747G= (p.Lys249=) c.1017G= (p.Lys339=) c.495G= (p.Lys165=) c.1059G= (p.Lys353=) c.22G= c.228G= (p.Lys76=) | |
| 12 | g.51915469G>T | CA384901665 | ACVRL1 | c.747G>T (p.Lys249Asn) c.1017G>T (p.Lys339Asn) c.495G>T (p.Lys165Asn) c.1059G>T (p.Lys353Asn) c.22G>T c.228G>T (p.Lys76Asn) | gnomAD v4 |
| 12 | g.51915470A= | CA2036269547 | ACVRL1 | c.748A= (p.Ser250=) c.1018A= (p.Ser340=) c.496A= (p.Ser166=) c.1060A= (p.Ser354=) c.23A= c.229A= (p.Ser77=) | |
| 12 | g.51915470A>C | CA384901668 | ACVRL1 | c.748A>C (p.Ser250Arg) c.1018A>C (p.Ser340Arg) c.496A>C (p.Ser166Arg) c.1060A>C (p.Ser354Arg) c.23A>C c.229A>C (p.Ser77Arg) | |
| 12 | g.51915470A>G | CA384901674 | ACVRL1 | c.748A>G (p.Ser250Gly) c.1018A>G (p.Ser340Gly) c.496A>G (p.Ser166Gly) c.1060A>G (p.Ser354Gly) c.23A>G c.229A>G (p.Ser77Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915470A>T | CA384901672 | ACVRL1 | c.748A>T (p.Ser250Cys) c.1018A>T (p.Ser340Cys) c.496A>T (p.Ser166Cys) c.1060A>T (p.Ser354Cys) c.23A>T c.229A>T (p.Ser77Cys) | |
| 12 | g.51915471G>A | CA384901675 | ACVRL1 | c.749G>A (p.Ser250Asn) c.1019G>A (p.Ser340Asn) c.497G>A (p.Ser166Asn) c.1061G>A (p.Ser354Asn) c.24G>A c.230G>A (p.Ser77Asn) | |
| 12 | g.51915471G>C | CA384901677 | ACVRL1 | c.749G>C (p.Ser250Thr) c.1019G>C (p.Ser340Thr) c.497G>C (p.Ser166Thr) c.1061G>C (p.Ser354Thr) c.24G>C c.230G>C (p.Ser77Thr) | |
| 12 | g.51915471G>T | CA384901679 | ACVRL1 | c.749G>T (p.Ser250Ile) c.1019G>T (p.Ser340Ile) c.497G>T (p.Ser166Ile) c.1061G>T (p.Ser354Ile) c.24G>T c.230G>T (p.Ser77Ile) | |
| 12 | g.51915472C>A | CA384901680 | ACVRL1 | c.750C>A (p.Ser250Arg) c.1020C>A (p.Ser340Arg) c.498C>A (p.Ser166Arg) c.1062C>A (p.Ser354Arg) c.25C>A c.231C>A (p.Ser77Arg) | |
| 12 | g.51915472C>G | CA384901682 | ACVRL1 | c.750C>G (p.Ser250Arg) c.1020C>G (p.Ser340Arg) c.498C>G (p.Ser166Arg) c.1062C>G (p.Ser354Arg) c.25C>G c.231C>G (p.Ser77Arg) | |
| 12 | g.51915472C>T | CA480063294 | ACVRL1 | c.750C>T (p.Ser250=) c.1020C>T (p.Ser340=) c.498C>T (p.Ser166=) c.1062C>T (p.Ser354=) c.25C>T c.231C>T (p.Ser77=) | gnomAD v4 |
| 12 | g.51915473A>C | CA384901687 | ACVRL1 | c.751A>C (p.Asn251His) c.1021A>C (p.Asn341His) c.499A>C (p.Asn167His) c.1063A>C (p.Asn355His) c.26A>C c.232A>C (p.Asn78His) | |
| 12 | g.51915473A>G | CA384901689 | ACVRL1 | c.751A>G (p.Asn251Asp) c.1021A>G (p.Asn341Asp) c.499A>G (p.Asn167Asp) c.1063A>G (p.Asn355Asp) c.26A>G c.232A>G (p.Asn78Asp) | |
| 12 | g.51915473A>T | CA384901691 | ACVRL1 | c.751A>T (p.Asn251Tyr) c.1021A>T (p.Asn341Tyr) c.499A>T (p.Asn167Tyr) c.1063A>T (p.Asn355Tyr) c.26A>T c.232A>T (p.Asn78Tyr) | gnomAD v4 |
| 12 | g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCG | CA2036269548 | ACVRL1 | c.751_772delinsAACCTGCAGTGTTGCATCGCCG (p.Asn251=) c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG (p.Asn341=) c.499_520delinsAACCTGCAGTGTTGCATCGCCG (p.Asn167=) c.1063_1084delinsAACCTGCAGTGTTGCATCGCCG (p.Asn355=) c.26_47delinsAACCTGCAGTGTTGCATCGCCG c.232_253delinsAACCTGCAGTGTTGCATCGCCG (p.Asn78=) | |
| 12 | g.51915474A= | CA2036269549 | ACVRL1 | c.752A= (p.Asn251=) c.1022A= (p.Asn341=) c.500A= (p.Asn167=) c.1064A= (p.Asn355=) c.27A= c.233A= (p.Asn78=) | |
| 12 | g.51915474A>C | CA384901695 | ACVRL1 | c.752A>C (p.Asn251Thr) c.1022A>C (p.Asn341Thr) c.500A>C (p.Asn167Thr) c.1064A>C (p.Asn355Thr) c.27A>C c.233A>C (p.Asn78Thr) | |
| 12 | g.51915474A>G | CA6573033 | ACVRL1 | c.752A>G (p.Asn251Ser) c.1022A>G (p.Asn341Ser) c.500A>G (p.Asn167Ser) c.1064A>G (p.Asn355Ser) c.27A>G c.233A>G (p.Asn78Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915474A>T | CA384901700 | ACVRL1 | c.752A>T (p.Asn251Ile) c.1022A>T (p.Asn341Ile) c.500A>T (p.Asn167Ile) c.1064A>T (p.Asn355Ile) c.27A>T c.233A>T (p.Asn78Ile) | |
| 12 | g.51915479_51915499del | CA915948525 | ACVRL1 | c.757_777del (p.Gln253_Leu259del) c.1027_1047del (p.Gln343_Leu349del) c.505_525del (p.Gln169_Leu175del) c.1069_1089del (p.Gln357_Leu363del) c.32_52del c.238_258del (p.Gln80_Leu86del) | ClinVar dbSNP |
| 12 | g.51915475C>A | CA384901701 | ACVRL1 | c.753C>A (p.Asn251Lys) c.1023C>A (p.Asn341Lys) c.501C>A (p.Asn167Lys) c.1065C>A (p.Asn355Lys) c.28C>A c.234C>A (p.Asn78Lys) | |
| 12 | g.51915475C>G | CA384901702 | ACVRL1 | c.753C>G (p.Asn251Lys) c.1023C>G (p.Asn341Lys) c.501C>G (p.Asn167Lys) c.1065C>G (p.Asn355Lys) c.28C>G c.234C>G (p.Asn78Lys) | ClinVar |
| 12 | g.51915475C>T | CA480063295 | ACVRL1 | c.753C>T (p.Asn251=) c.1023C>T (p.Asn341=) c.501C>T (p.Asn167=) c.1065C>T (p.Asn355=) c.28C>T c.234C>T (p.Asn78=) |