| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51915303_51915357del | CA2739272048 | ACVRL1 | c.581_635del (p.Ser194Ter) c.851_905del (p.Ser284Ter) c.329_383del (p.Ser110Ter) c.893_947del (p.Ser298Ter) c.62_116del (p.Ser21Ter) | ClinVar |
| 12 | g.51915344C>A | CA384900801 | ACVRL1 | c.622C>A (p.Leu208Met) c.892C>A (p.Leu298Met) c.370C>A (p.Leu124Met) c.934C>A (p.Leu312Met) c.103C>A (p.Leu35Met) | |
| 12 | g.51915344C>G | CA384900802 | ACVRL1 | c.622C>G (p.Leu208Val) c.892C>G (p.Leu298Val) c.370C>G (p.Leu124Val) c.934C>G (p.Leu312Val) c.103C>G (p.Leu35Val) | |
| 12 | g.51915344C>T | CA480063196 | ACVRL1 | c.622C>T (p.Leu208=) c.892C>T (p.Leu298=) c.370C>T (p.Leu124=) c.934C>T (p.Leu312=) c.103C>T (p.Leu35=) | |
| 12 | g.51915345T>A | CA384900809 | ACVRL1 | c.623T>A (p.Leu208Gln) c.893T>A (p.Leu298Gln) c.371T>A (p.Leu124Gln) c.935T>A (p.Leu312Gln) c.104T>A (p.Leu35Gln) | |
| 12 | g.51915345T>C | CA384900810 | ACVRL1 | c.623T>C (p.Leu208Pro) c.893T>C (p.Leu298Pro) c.371T>C (p.Leu124Pro) c.935T>C (p.Leu312Pro) c.104T>C (p.Leu35Pro) | |
| 12 | g.51915345T>G | CA384900811 | ACVRL1 | c.623T>G (p.Leu208Arg) c.893T>G (p.Leu298Arg) c.371T>G (p.Leu124Arg) c.935T>G (p.Leu312Arg) c.104T>G (p.Leu35Arg) | |
| 12 | g.51915346G>A | CA6573013 | ACVRL1 | c.624G>A (p.Leu208=) c.894G>A (p.Leu298=) c.372G>A (p.Leu124=) c.936G>A (p.Leu312=) c.105G>A (p.Leu35=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915346G>C | CA480063197 | ACVRL1 | c.624G>C (p.Leu208=) c.894G>C (p.Leu298=) c.372G>C (p.Leu124=) c.936G>C (p.Leu312=) c.105G>C (p.Leu35=) | |
| 12 | g.51915346G= | CA2036269473 | ACVRL1 | c.624G= (p.Leu208=) c.894G= (p.Leu298=) c.372G= (p.Leu124=) c.936G= (p.Leu312=) c.105G= (p.Leu35=) | |
| 12 | g.51915346G>T | CA480063198 | ACVRL1 | c.624G>T (p.Leu208=) c.894G>T (p.Leu298=) c.372G>T (p.Leu124=) c.936G>T (p.Leu312=) c.105G>T (p.Leu35=) | |
| 12 | g.51915347G>A | CA384900819 | ACVRL1 | c.625G>A (p.Ala209Thr) c.895G>A (p.Ala299Thr) c.373G>A (p.Ala125Thr) c.937G>A (p.Ala313Thr) c.106G>A (p.Ala36Thr) | dbSNP gnomAD v4 |
| 12 | g.51915347G>C | CA384900817 | ACVRL1 | c.625G>C (p.Ala209Pro) c.895G>C (p.Ala299Pro) c.373G>C (p.Ala125Pro) c.937G>C (p.Ala313Pro) c.106G>C (p.Ala36Pro) | |
| 12 | g.51915347G= | CA2036269474 | ACVRL1 | c.625G= (p.Ala209=) c.895G= (p.Ala299=) c.373G= (p.Ala125=) c.937G= (p.Ala313=) c.106G= (p.Ala36=) | |
| 12 | g.51915347G>T | CA384900822 | ACVRL1 | c.625G>T (p.Ala209Ser) c.895G>T (p.Ala299Ser) c.373G>T (p.Ala125Ser) c.937G>T (p.Ala313Ser) c.106G>T (p.Ala36Ser) | |
| 12 | g.51915348C>A | CA384900827 | ACVRL1 | c.626C>A (p.Ala209Asp) c.896C>A (p.Ala299Asp) c.374C>A (p.Ala125Asp) c.938C>A (p.Ala313Asp) c.107C>A (p.Ala36Asp) | |
| 12 | g.51915348C>G | CA384900847 | ACVRL1 | c.626C>G (p.Ala209Gly) c.896C>G (p.Ala299Gly) c.374C>G (p.Ala125Gly) c.938C>G (p.Ala313Gly) c.107C>G (p.Ala36Gly) | |
| 12 | g.51915348C>T | CA384900832 | ACVRL1 | c.626C>T (p.Ala209Val) c.896C>T (p.Ala299Val) c.374C>T (p.Ala125Val) c.938C>T (p.Ala313Val) c.107C>T (p.Ala36Val) | |
| 12 | g.51915349T>A | CA480063200 | ACVRL1 | c.627T>A (p.Ala209=) c.897T>A (p.Ala299=) c.375T>A (p.Ala125=) c.939T>A (p.Ala313=) c.108T>A (p.Ala36=) | |
| 12 | g.51915349T>C | CA6573014 | ACVRL1 | c.627T>C (p.Ala209=) c.897T>C (p.Ala299=) c.375T>C (p.Ala125=) c.939T>C (p.Ala313=) c.108T>C (p.Ala36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915349T>G | CA480063199 | ACVRL1 | c.627T>G (p.Ala209=) c.897T>G (p.Ala299=) c.375T>G (p.Ala125=) c.939T>G (p.Ala313=) c.108T>G (p.Ala36=) | |
| 12 | g.51915349T= | CA2036269475 | ACVRL1 | c.627T= (p.Ala209=) c.897T= (p.Ala299=) c.375T= (p.Ala125=) c.939T= (p.Ala313=) c.108T= (p.Ala36=) | |
| 12 | g.51915350C>A | CA384900853 | ACVRL1 | c.628C>A (p.Leu210Met) c.898C>A (p.Leu300Met) c.376C>A (p.Leu126Met) c.940C>A (p.Leu314Met) c.109C>A (p.Leu37Met) | |
| 12 | g.51915350C>G | CA384900856 | ACVRL1 | c.628C>G (p.Leu210Val) c.898C>G (p.Leu300Val) c.376C>G (p.Leu126Val) c.940C>G (p.Leu314Val) c.109C>G (p.Leu37Val) | |
| 12 | g.51915350C>T | CA480063201 | ACVRL1 | c.628C>T (p.Leu210=) c.898C>T (p.Leu300=) c.376C>T (p.Leu126=) c.940C>T (p.Leu314=) c.109C>T (p.Leu37=) | |
| 12 | g.51915351T>A | CA384900858 | ACVRL1 | c.629T>A (p.Leu210Gln) c.899T>A (p.Leu300Gln) c.377T>A (p.Leu126Gln) c.941T>A (p.Leu314Gln) c.110T>A (p.Leu37Gln) | |
| 12 | g.51915351T>C | CA384900859 | ACVRL1 | c.629T>C (p.Leu210Pro) c.899T>C (p.Leu300Pro) c.377T>C (p.Leu126Pro) c.941T>C (p.Leu314Pro) c.110T>C (p.Leu37Pro) | |
| 12 | g.51915351T>G | CA384900860 | ACVRL1 | c.629T>G (p.Leu210Arg) c.899T>G (p.Leu300Arg) c.377T>G (p.Leu126Arg) c.941T>G (p.Leu314Arg) c.110T>G (p.Leu37Arg) | |
| 12 | g.51915352del | CA2580086482 | ACVRL1 | c.630del (p.Arg211GlyfsTer2) c.900del (p.Arg301GlyfsTer2) c.378del (p.Arg127GlyfsTer2) c.942del (p.Arg315GlyfsTer2) c.111del (p.Arg38GlyfsTer2) | ClinVar |
| 12 | g.51915352G>A | CA480063204 | ACVRL1 | c.630G>A (p.Leu210=) c.900G>A (p.Leu300=) c.378G>A (p.Leu126=) c.942G>A (p.Leu314=) c.111G>A (p.Leu37=) | ClinVar |
| 12 | g.51915352G>C | CA480063203 | ACVRL1 | c.630G>C (p.Leu210=) c.900G>C (p.Leu300=) c.378G>C (p.Leu126=) c.942G>C (p.Leu314=) c.111G>C (p.Leu37=) | |
| 12 | g.51915352G= | CA2036269476 | ACVRL1 | c.630G= (p.Leu210=) c.900G= (p.Leu300=) c.378G= (p.Leu126=) c.942G= (p.Leu314=) c.111G= (p.Leu37=) | |
| 12 | g.51915352G>T | CA480063202 | ACVRL1 | c.630G>T (p.Leu210=) c.900G>T (p.Leu300=) c.378G>T (p.Leu126=) c.942G>T (p.Leu314=) c.111G>T (p.Leu37=) | dbSNP gnomAD v2 |
| 12 | g.51915353A>C | CA480063205 | ACVRL1 | c.631A>C (p.Arg211=) c.901A>C (p.Arg301=) c.379A>C (p.Arg127=) c.943A>C (p.Arg315=) c.112A>C (p.Arg38=) | |
| 12 | g.51915353A>G | CA384900865 | ACVRL1 | c.631A>G (p.Arg211Gly) c.901A>G (p.Arg301Gly) c.379A>G (p.Arg127Gly) c.943A>G (p.Arg315Gly) c.112A>G (p.Arg38Gly) | |
| 12 | g.51915353A>T | CA384900871 | ACVRL1 | c.631A>T (p.Arg211Trp) c.901A>T (p.Arg301Trp) c.379A>T (p.Arg127Trp) c.943A>T (p.Arg315Trp) c.112A>T (p.Arg38Trp) | |
| 12 | g.51915354G>A | CA6573015 | ACVRL1 | c.632G>A (p.Arg211Lys) c.902G>A (p.Arg301Lys) c.380G>A (p.Arg127Lys) c.944G>A (p.Arg315Lys) c.113G>A (p.Arg38Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915354G>C | CA384900878 | ACVRL1 | c.632G>C (p.Arg211Thr) c.902G>C (p.Arg301Thr) c.380G>C (p.Arg127Thr) c.944G>C (p.Arg315Thr) c.113G>C (p.Arg38Thr) | |
| 12 | g.51915354G= | CA2036269477 | ACVRL1 | c.632G= (p.Arg211=) c.902G= (p.Arg301=) c.380G= (p.Arg127=) c.944G= (p.Arg315=) c.113G= (p.Arg38=) | |
| 12 | g.51915354G>T | CA384900889 | ACVRL1 | c.632G>T (p.Arg211Met) c.902G>T (p.Arg301Met) c.380G>T (p.Arg127Met) c.944G>T (p.Arg315Met) c.113G>T (p.Arg38Met) | |
| 12 | g.51915355G>A | CA480063206 | ACVRL1 | c.633G>A (p.Arg211=) c.903G>A (p.Arg301=) c.381G>A (p.Arg127=) c.945G>A (p.Arg315=) c.114G>A (p.Arg38=) | ClinVar |
| 12 | g.51915355G>C | CA384900891 | ACVRL1 | c.633G>C (p.Arg211Ser) c.903G>C (p.Arg301Ser) c.381G>C (p.Arg127Ser) c.945G>C (p.Arg315Ser) c.114G>C (p.Arg38Ser) | |
| 12 | g.51915355G= | CA2036269478 | ACVRL1 | c.633G= (p.Arg211=) c.903G= (p.Arg301=) c.381G= (p.Arg127=) c.945G= (p.Arg315=) c.114G= (p.Arg38=) | |
| 12 | g.51915355G>T | CA384900892 | ACVRL1 | c.633G>T (p.Arg211Ser) c.903G>T (p.Arg301Ser) c.381G>T (p.Arg127Ser) c.945G>T (p.Arg315Ser) c.114G>T (p.Arg38Ser) | gnomAD v4 |
| 12 | g.51915355_51915356insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT | CA605238839 | ACVRL1 | c.633_634insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg211_Leu212insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.903_904insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg301_Leu302insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.381_382insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg127_Leu128insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.945_946insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg315_Leu316insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) c.114_115insACAGCACCTGGCATACAGTGCTCAGTAAACATTTGGTGTTATTATTAT (p.Arg38_Leu39insThrAlaProGlyIleGlnCysSerValAsnIleTrpCysTyrTyrTyr) | dbSNP gnomAD v2 |
| 12 | g.51915356C>A | CA384900893 | ACVRL1 | c.634C>A (p.Leu212Ile) c.904C>A (p.Leu302Ile) c.382C>A (p.Leu128Ile) c.946C>A (p.Leu316Ile) c.115C>A (p.Leu39Ile) | |
| 12 | g.51915356C>G | CA384900896 | ACVRL1 | c.634C>G (p.Leu212Val) c.904C>G (p.Leu302Val) c.382C>G (p.Leu128Val) c.946C>G (p.Leu316Val) c.115C>G (p.Leu39Val) | |
| 12 | g.51915356C>T | CA480063207 | ACVRL1 | c.634C>T (p.Leu212=) c.904C>T (p.Leu302=) c.382C>T (p.Leu128=) c.946C>T (p.Leu316=) c.115C>T (p.Leu39=) | |
| 12 | g.51915357T>A | CA384900899 | ACVRL1 | c.635T>A (p.Leu212Gln) c.905T>A (p.Leu302Gln) c.383T>A (p.Leu128Gln) c.947T>A (p.Leu316Gln) c.116T>A (p.Leu39Gln) | |
| 12 | g.51915357T>C | CA384900900 | ACVRL1 | c.635T>C (p.Leu212Pro) c.905T>C (p.Leu302Pro) c.383T>C (p.Leu128Pro) c.947T>C (p.Leu316Pro) c.116T>C (p.Leu39Pro) | ClinVar dbSNP |