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.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.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 |
| 12 | g.51915357T>G | CA384900901 | ACVRL1 | c.635T>G (p.Leu212Arg) c.905T>G (p.Leu302Arg) c.383T>G (p.Leu128Arg) c.947T>G (p.Leu316Arg) c.116T>G (p.Leu39Arg) | ClinVar |
| 12 | g.51915357T= | CA2036269479 | ACVRL1 | c.635T= (p.Leu212=) c.905T= (p.Leu302=) c.383T= (p.Leu128=) c.947T= (p.Leu316=) c.116T= (p.Leu39=) | |
| 12 | g.51915358A>C | CA480063208 | ACVRL1 | c.636A>C (p.Leu212=) c.906A>C (p.Leu302=) c.384A>C (p.Leu128=) c.948A>C (p.Leu316=) c.117A>C (p.Leu39=) | |
| 12 | g.51915358A>G | CA480063209 | ACVRL1 | c.636A>G (p.Leu212=) c.906A>G (p.Leu302=) c.384A>G (p.Leu128=) c.948A>G (p.Leu316=) c.117A>G (p.Leu39=) | |
| 12 | g.51915358A>T | CA480063210 | ACVRL1 | c.636A>T (p.Leu212=) c.906A>T (p.Leu302=) c.384A>T (p.Leu128=) c.948A>T (p.Leu316=) c.117A>T (p.Leu39=) | |
| 12 | g.51915359G>A | CA384900902 | ACVRL1 | c.637G>A (p.Ala213Thr) c.907G>A (p.Ala303Thr) c.385G>A (p.Ala129Thr) c.949G>A (p.Ala317Thr) c.118G>A (p.Ala40Thr) | dbSNP |
| 12 | g.51915359G>C | CA384900906 | ACVRL1 | c.637G>C (p.Ala213Pro) c.907G>C (p.Ala303Pro) c.385G>C (p.Ala129Pro) c.949G>C (p.Ala317Pro) c.118G>C (p.Ala40Pro) | ClinVar dbSNP |
| 12 | g.51915359G= | CA2036269480 | ACVRL1 | c.637G= (p.Ala213=) c.907G= (p.Ala303=) c.385G= (p.Ala129=) c.949G= (p.Ala317=) c.118G= (p.Ala40=) | |
| 12 | g.51915359G>T | CA384900910 | ACVRL1 | c.637G>T (p.Ala213Ser) c.907G>T (p.Ala303Ser) c.385G>T (p.Ala129Ser) c.949G>T (p.Ala317Ser) c.118G>T (p.Ala40Ser) | |
| 12 | g.51915360C>A | CA384900913 | ACVRL1 | c.638C>A (p.Ala213Asp) c.908C>A (p.Ala303Asp) c.386C>A (p.Ala129Asp) c.950C>A (p.Ala317Asp) c.119C>A (p.Ala40Asp) | |
| 12 | g.51915360C= | CA2036269481 | ACVRL1 | c.638C= (p.Ala213=) c.908C= (p.Ala303=) c.386C= (p.Ala129=) c.950C= (p.Ala317=) c.119C= (p.Ala40=) | |
| 12 | g.51915360C>G | CA384900914 | ACVRL1 | c.638C>G (p.Ala213Gly) c.908C>G (p.Ala303Gly) c.386C>G (p.Ala129Gly) c.950C>G (p.Ala317Gly) c.119C>G (p.Ala40Gly) | |
| 12 | g.51915360C>T | CA384900915 | ACVRL1 | c.638C>T (p.Ala213Val) c.908C>T (p.Ala303Val) c.386C>T (p.Ala129Val) c.950C>T (p.Ala317Val) c.119C>T (p.Ala40Val) | dbSNP gnomAD v4 |
| 12 | g.51915361T>A | CA480063211 | ACVRL1 | c.639T>A (p.Ala213=) c.909T>A (p.Ala303=) c.387T>A (p.Ala129=) c.951T>A (p.Ala317=) c.120T>A (p.Ala40=) | |
| 12 | g.51915361T>C | CA6573016 | ACVRL1 | c.639T>C (p.Ala213=) c.909T>C (p.Ala303=) c.387T>C (p.Ala129=) c.951T>C (p.Ala317=) c.120T>C (p.Ala40=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51915361T>G | CA480063212 | ACVRL1 | c.639T>G (p.Ala213=) c.909T>G (p.Ala303=) c.387T>G (p.Ala129=) c.951T>G (p.Ala317=) c.120T>G (p.Ala40=) | |
| 12 | g.51915361T= | CA2036269482 | ACVRL1 | c.639T= (p.Ala213=) c.909T= (p.Ala303=) c.387T= (p.Ala129=) c.951T= (p.Ala317=) c.120T= (p.Ala40=) | |
| 12 | g.51915362G>A | CA236364083 | ACVRL1 | c.640G>A (p.Val214Met) c.910G>A (p.Val304Met) c.388G>A (p.Val130Met) c.952G>A (p.Val318Met) c.121G>A (p.Val41Met) | dbSNP gnomAD v4 |
| 12 | g.51915362G>C | CA384900918 | ACVRL1 | c.640G>C (p.Val214Leu) c.910G>C (p.Val304Leu) c.388G>C (p.Val130Leu) c.952G>C (p.Val318Leu) c.121G>C (p.Val41Leu) | |
| 12 | g.51915362G= | CA2036269483 | ACVRL1 | c.640G= (p.Val214=) c.910G= (p.Val304=) c.388G= (p.Val130=) c.952G= (p.Val318=) c.121G= (p.Val41=) | |
| 12 | g.51915362G>T | CA384900916 | ACVRL1 | c.640G>T (p.Val214Leu) c.910G>T (p.Val304Leu) c.388G>T (p.Val130Leu) c.952G>T (p.Val318Leu) c.121G>T (p.Val41Leu) | |
| 12 | g.51915363T>A | CA384900923 | ACVRL1 | c.641T>A (p.Val214Glu) c.911T>A (p.Val304Glu) c.389T>A (p.Val130Glu) c.953T>A (p.Val318Glu) c.122T>A (p.Val41Glu) | |
| 12 | g.51915363T>C | CA384900925 | ACVRL1 | c.641T>C (p.Val214Ala) c.911T>C (p.Val304Ala) c.389T>C (p.Val130Ala) c.953T>C (p.Val318Ala) c.122T>C (p.Val41Ala) | |
| 12 | g.51915363T>G | CA384900930 | ACVRL1 | c.641T>G (p.Val214Gly) c.911T>G (p.Val304Gly) c.389T>G (p.Val130Gly) c.953T>G (p.Val318Gly) c.122T>G (p.Val41Gly) | |
| 12 | g.51915364G>A | CA480063213 | ACVRL1 | c.642G>A (p.Val214=) c.912G>A (p.Val304=) c.390G>A (p.Val130=) c.954G>A (p.Val318=) c.123G>A (p.Val41=) | |
| 12 | g.51915364G>C | CA480063214 | ACVRL1 | c.642G>C (p.Val214=) c.912G>C (p.Val304=) c.390G>C (p.Val130=) c.954G>C (p.Val318=) c.123G>C (p.Val41=) | |
| 12 | g.51915364G>T | CA480063215 | ACVRL1 | c.642G>T (p.Val214=) c.912G>T (p.Val304=) c.390G>T (p.Val130=) c.954G>T (p.Val318=) c.123G>T (p.Val41=) | |
| 12 | g.51915365_51915368del | CA2739272049 | ACVRL1 | c.643_646del (p.Ser215ArgfsTer?) c.913_916del (p.Ser305ArgfsTer?) c.391_394del (p.Ser131ArgfsTer?) c.955_958del (p.Ser319ArgfsTer?) c.124_127del (p.Ser42ArgfsTer?) | ClinVar |
| 12 | g.51915365del | CA2695216745 | ACVRL1 | c.643del (p.Ser215ProfsTer?) c.913del (p.Ser305ProfsTer?) c.391del (p.Ser131ProfsTer?) c.955del (p.Ser319ProfsTer?) c.124del (p.Ser42ProfsTer?) | |
| 12 | g.51915365T>A | CA384900944 | ACVRL1 | c.643T>A (p.Ser215Thr) c.913T>A (p.Ser305Thr) c.391T>A (p.Ser131Thr) c.955T>A (p.Ser319Thr) c.124T>A (p.Ser42Thr) | |
| 12 | g.51915365T>C | CA384900945 | ACVRL1 | c.643T>C (p.Ser215Pro) c.913T>C (p.Ser305Pro) c.391T>C (p.Ser131Pro) c.955T>C (p.Ser319Pro) c.124T>C (p.Ser42Pro) | ClinVar dbSNP |
| 12 | g.51915365T>G | CA384900947 | ACVRL1 | c.643T>G (p.Ser215Ala) c.913T>G (p.Ser305Ala) c.391T>G (p.Ser131Ala) c.955T>G (p.Ser319Ala) c.124T>G (p.Ser42Ala) | |
| 12 | g.51915365T= | CA2036269484 | ACVRL1 | c.643T= (p.Ser215=) c.913T= (p.Ser305=) c.391T= (p.Ser131=) c.955T= (p.Ser319=) c.124T= (p.Ser42=) | |
| 12 | g.51915366C>A | CA384900949 | ACVRL1 | c.644C>A (p.Ser215Tyr) c.914C>A (p.Ser305Tyr) c.392C>A (p.Ser131Tyr) c.956C>A (p.Ser319Tyr) c.125C>A (p.Ser42Tyr) | |
| 12 | g.51915366C= | CA2036269485 | ACVRL1 | c.644C= (p.Ser215=) c.914C= (p.Ser305=) c.392C= (p.Ser131=) c.956C= (p.Ser319=) c.125C= (p.Ser42=) | |
| 12 | g.51915366C>G | CA384900952 | ACVRL1 | c.644C>G (p.Ser215Cys) c.914C>G (p.Ser305Cys) c.392C>G (p.Ser131Cys) c.956C>G (p.Ser319Cys) c.125C>G (p.Ser42Cys) | |
| 12 | g.51915366C>T | CA384900954 | ACVRL1 | c.644C>T (p.Ser215Phe) c.914C>T (p.Ser305Phe) c.392C>T (p.Ser131Phe) c.956C>T (p.Ser319Phe) c.125C>T (p.Ser42Phe) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51915367C>A | CA480063216 | ACVRL1 | c.645C>A (p.Ser215=) c.915C>A (p.Ser305=) c.393C>A (p.Ser131=) c.957C>A (p.Ser319=) c.126C>A (p.Ser42=) | |
| 12 | g.51915367C= | CA2036269487 | ACVRL1 | c.645C= (p.Ser215=) c.915C= (p.Ser305=) c.393C= (p.Ser131=) c.957C= (p.Ser319=) c.126C= (p.Ser42=) | |
| 12 | g.51915367C>G | CA480063217 | ACVRL1 | c.645C>G (p.Ser215=) c.915C>G (p.Ser305=) c.393C>G (p.Ser131=) c.957C>G (p.Ser319=) c.126C>G (p.Ser42=) | dbSNP gnomAD v4 |
| 12 | g.51915367C>T | CA480063218 | ACVRL1 | c.645C>T (p.Ser215=) c.915C>T (p.Ser305=) c.393C>T (p.Ser131=) c.957C>T (p.Ser319=) c.126C>T (p.Ser42=) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.51915367_51915368delinsCG | CA2036269486 | ACVRL1 | c.645_646delinsCG (p.Ser215=) c.915_916delinsCG (p.Ser305=) c.393_394delinsCG (p.Ser131=) c.957_958delinsCG (p.Ser319=) c.126_127delinsCG (p.Ser42=) | |
| 12 | g.51915368del | CA16619569 | ACVRL1 | c.646del (p.Ala216ArgfsTer?) c.916del (p.Ala306ArgfsTer?) c.394del (p.Ala132ArgfsTer?) c.958del (p.Ala320ArgfsTer?) c.127del (p.Ala43ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915368G>A | CA384900956 | ACVRL1 | c.646G>A (p.Ala216Thr) c.916G>A (p.Ala306Thr) c.394G>A (p.Ala132Thr) c.958G>A (p.Ala320Thr) c.127G>A (p.Ala43Thr) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51915368G>C | CA384900960 | ACVRL1 | c.646G>C (p.Ala216Pro) c.916G>C (p.Ala306Pro) c.394G>C (p.Ala132Pro) c.958G>C (p.Ala320Pro) c.127G>C (p.Ala43Pro) | ClinVar dbSNP |
| 12 | g.51915368G= | CA2036269489 | ACVRL1 | c.646G= (p.Ala216=) c.916G= (p.Ala306=) c.394G= (p.Ala132=) c.958G= (p.Ala320=) c.127G= (p.Ala43=) | |
| 12 | g.51915368G>T | CA384900963 | ACVRL1 | c.646G>T (p.Ala216Ser) c.916G>T (p.Ala306Ser) c.394G>T (p.Ala132Ser) c.958G>T (p.Ala320Ser) c.127G>T (p.Ala43Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915368_51915369delinsAA | CA16614160 | ACVRL1 | c.646_647delinsAA (p.Ala216Lys) c.916_917delinsAA (p.Ala306Lys) c.394_395delinsAA (p.Ala132Lys) c.958_959delinsAA (p.Ala320Lys) c.127_128delinsAA (p.Ala43Lys) | ClinVar dbSNP |
| 12 | g.51915368_51915369delinsGC | CA2036269488 | ACVRL1 | c.646_647delinsGC (p.Ala216=) c.916_917delinsGC (p.Ala306=) c.394_395delinsGC (p.Ala132=) c.958_959delinsGC (p.Ala320=) c.127_128delinsGC (p.Ala43=) | |
| 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.51915368_51915369insTCA | CA1139662701 | ACVRL1 | c.646_647insTCA (p.Ala216delinsValThr) c.916_917insTCA (p.Ala306delinsValThr) c.394_395insTCA (p.Ala132delinsValThr) c.958_959insTCA (p.Ala320delinsValThr) c.127_128insTCA (p.Ala43delinsValThr) | ClinVar dbSNP |
| 12 | g.51915369C>A | CA384900973 | ACVRL1 | c.647C>A (p.Ala216Glu) c.917C>A (p.Ala306Glu) c.395C>A (p.Ala132Glu) c.959C>A (p.Ala320Glu) c.128C>A (p.Ala43Glu) | |
| 12 | g.51915369C= | CA2036269490 | ACVRL1 | c.647C= (p.Ala216=) c.917C= (p.Ala306=) c.395C= (p.Ala132=) c.959C= (p.Ala320=) c.128C= (p.Ala43=) | |
| 12 | g.51915369C>G | CA384900969 | ACVRL1 | c.647C>G (p.Ala216Gly) c.917C>G (p.Ala306Gly) c.395C>G (p.Ala132Gly) c.959C>G (p.Ala320Gly) c.128C>G (p.Ala43Gly) | gnomAD v4 |
| 12 | g.51915369C>T | CA6573017 | ACVRL1 | c.647C>T (p.Ala216Val) c.917C>T (p.Ala306Val) c.395C>T (p.Ala132Val) c.959C>T (p.Ala320Val) c.128C>T (p.Ala43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51915370G>A | CA480063219 | ACVRL1 | c.648G>A (p.Ala216=) c.918G>A (p.Ala306=) c.396G>A (p.Ala132=) c.960G>A (p.Ala320=) c.129G>A (p.Ala43=) | gnomAD v4 COSMIC |
| 12 | g.51915370G>C | CA480063221 | ACVRL1 | c.648G>C (p.Ala216=) c.918G>C (p.Ala306=) c.396G>C (p.Ala132=) c.960G>C (p.Ala320=) c.129G>C (p.Ala43=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51915370G= | CA2036269491 | ACVRL1 | c.648G= (p.Ala216=) c.918G= (p.Ala306=) c.396G= (p.Ala132=) c.960G= (p.Ala320=) c.129G= (p.Ala43=) | |
| 12 | g.51915370G>T | CA480063220 | ACVRL1 | c.648G>T (p.Ala216=) c.918G>T (p.Ala306=) c.396G>T (p.Ala132=) c.960G>T (p.Ala320=) c.129G>T (p.Ala43=) | |
| 12 | g.51915371del | CA2739272050 | ACVRL1 | c.649del (p.Ala217HisfsTer?) c.919del (p.Ala307HisfsTer?) c.397del (p.Ala133HisfsTer?) c.961del (p.Ala321HisfsTer?) c.130del (p.Ala44HisfsTer?) | ClinVar |
| 12 | g.51915371G>A | CA384900975 | ACVRL1 | c.649G>A (p.Ala217Thr) c.919G>A (p.Ala307Thr) c.397G>A (p.Ala133Thr) c.961G>A (p.Ala321Thr) c.130G>A (p.Ala44Thr) | |
| 12 | g.51915371G>C | CA384900976 | ACVRL1 | c.649G>C (p.Ala217Pro) c.919G>C (p.Ala307Pro) c.397G>C (p.Ala133Pro) c.961G>C (p.Ala321Pro) c.130G>C (p.Ala44Pro) | |
| 12 | g.51915371G>T | CA384900983 | ACVRL1 | c.649G>T (p.Ala217Ser) c.919G>T (p.Ala307Ser) c.397G>T (p.Ala133Ser) c.961G>T (p.Ala321Ser) c.130G>T (p.Ala44Ser) | |
| 12 | g.51915372C>A | CA325209 | ACVRL1 | c.650C>A (p.Ala217Glu) c.920C>A (p.Ala307Glu) c.398C>A (p.Ala133Glu) c.962C>A (p.Ala321Glu) c.131C>A (p.Ala44Glu) | ClinVar dbSNP |
| 12 | g.51915372C= | CA2036269492 | ACVRL1 | c.650C= (p.Ala217=) c.920C= (p.Ala307=) c.398C= (p.Ala133=) c.962C= (p.Ala321=) c.131C= (p.Ala44=) | |
| 12 | g.51915372C>G | CA384900989 | ACVRL1 | c.650C>G (p.Ala217Gly) c.920C>G (p.Ala307Gly) c.398C>G (p.Ala133Gly) c.962C>G (p.Ala321Gly) c.131C>G (p.Ala44Gly) | |
| 12 | g.51915372C>T | CA236364091 | ACVRL1 | c.650C>T (p.Ala217Val) c.920C>T (p.Ala307Val) c.398C>T (p.Ala133Val) c.962C>T (p.Ala321Val) c.131C>T (p.Ala44Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51915373A>C | CA480063222 | ACVRL1 | c.651A>C (p.Ala217=) c.921A>C (p.Ala307=) c.399A>C (p.Ala133=) c.963A>C (p.Ala321=) c.132A>C (p.Ala44=) | |
| 12 | g.51915373A>G | CA480063223 | ACVRL1 | c.651A>G (p.Ala217=) c.921A>G (p.Ala307=) c.399A>G (p.Ala133=) c.963A>G (p.Ala321=) c.132A>G (p.Ala44=) | |
| 12 | g.51915373A>T | CA480063224 | ACVRL1 | c.651A>T (p.Ala217=) c.921A>T (p.Ala307=) c.399A>T (p.Ala133=) c.963A>T (p.Ala321=) c.132A>T (p.Ala44=) | ClinVar |
| 12 | g.51915374T>A | CA384900998 | ACVRL1 | c.652T>A (p.Cys218Ser) c.922T>A (p.Cys308Ser) c.400T>A (p.Cys134Ser) c.964T>A (p.Cys322Ser) c.133T>A (p.Cys45Ser) | |
| 12 | g.51915374T>C | CA384901009 | ACVRL1 | c.652T>C (p.Cys218Arg) c.922T>C (p.Cys308Arg) c.400T>C (p.Cys134Arg) c.964T>C (p.Cys322Arg) c.133T>C (p.Cys45Arg) | gnomAD v4 |
| 12 | g.51915374T>G | CA384901012 | ACVRL1 | c.652T>G (p.Cys218Gly) c.922T>G (p.Cys308Gly) c.400T>G (p.Cys134Gly) c.964T>G (p.Cys322Gly) c.133T>G (p.Cys45Gly) | |
| 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) |