| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.51914459_51914470dup | CA2573148780 | ACVRL1 | c.376_387dup (p.Gly129_Leu130insValTrpArgGly) c.646_657dup (p.Gly219_Leu220insValTrpArgGly) c.124_135dup (p.Gly45_Leu46insValTrpArgGly) c.688_699dup (p.Gly233_Leu234insValTrpArgGly) c.-144_-133dup (n.-144_-133dup) | ClinVar dbSNP |
| 12 | g.51914466G>A | CA6572963 | ACVRL1 | c.383G>A (p.Arg128Gln) c.653G>A (p.Arg218Gln) c.131G>A (p.Arg44Gln) c.695G>A (p.Arg232Gln) c.-137G>A (n.-137G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914466G>C | CA16614158 | ACVRL1 | c.383G>C (p.Arg128Pro) c.653G>C (p.Arg218Pro) c.131G>C (p.Arg44Pro) c.695G>C (p.Arg232Pro) c.-137G>C (n.-137G>C) | ClinVar dbSNP |
| 12 | g.51914466G= | CA2036268988 | ACVRL1 | c.383G= (p.Arg128=) c.653G= (p.Arg218=) c.131G= (p.Arg44=) c.695G= (p.Arg232=) c.-137G= (n.-137G=) | |
| 12 | g.51914466G>T | CA384900003 | ACVRL1 | c.383G>T (p.Arg128Leu) c.653G>T (p.Arg218Leu) c.131G>T (p.Arg44Leu) c.695G>T (p.Arg232Leu) c.-137G>T (n.-137G>T) | |
| 12 | g.51914466_51914467delinsCC | CA645293884 | ACVRL1 | c.383_384delinsCC (p.Arg128Pro) c.653_654delinsCC (p.Arg218Pro) c.131_132delinsCC (p.Arg44Pro) c.695_696delinsCC (p.Arg232Pro) c.-137_-136delinsCC (n.-137_-136delinsCC) | ClinVar |
| 12 | g.51914469del | CA645594552 | ACVRL1 | c.386del (p.Gly129AlafsTer?) c.656del (p.Gly219AlafsTer?) c.134del (p.Gly45AlafsTer?) c.698del (p.Gly233AlafsTer?) c.-134del (n.-134del) | COSMIC COSMIC |
| 12 | g.51914467G>A | CA479807233 | ACVRL1 | c.384G>A (p.Arg128=) c.654G>A (p.Arg218=) c.132G>A (p.Arg44=) c.696G>A (p.Arg232=) c.-136G>A (n.-136G>A) | |
| 12 | g.51914467G>C | CA479807237 | ACVRL1 | c.384G>C (p.Arg128=) c.654G>C (p.Arg218=) c.132G>C (p.Arg44=) c.696G>C (p.Arg232=) c.-136G>C (n.-136G>C) | |
| 12 | g.51914467G>T | CA479807241 | ACVRL1 | c.384G>T (p.Arg128=) c.654G>T (p.Arg218=) c.132G>T (p.Arg44=) c.696G>T (p.Arg232=) c.-136G>T (n.-136G>T) | |
| 12 | g.51914468G>A | CA384900006 | ACVRL1 | c.385G>A (p.Gly129Ser) c.655G>A (p.Gly219Ser) c.133G>A (p.Gly45Ser) c.697G>A (p.Gly233Ser) c.-135G>A (n.-135G>A) | |
| 12 | g.51914468G>C | CA384900004 | ACVRL1 | c.385G>C (p.Gly129Arg) c.655G>C (p.Gly219Arg) c.133G>C (p.Gly45Arg) c.697G>C (p.Gly233Arg) c.-135G>C (n.-135G>C) | ClinVar dbSNP |
| 12 | g.51914468G= | CA2036268994 | ACVRL1 | c.385G= (p.Gly129=) c.655G= (p.Gly219=) c.133G= (p.Gly45=) c.697G= (p.Gly233=) c.-135G= (n.-135G=) | |
| 12 | g.51914468G>T | CA384900005 | ACVRL1 | c.385G>T (p.Gly129Cys) c.655G>T (p.Gly219Cys) c.133G>T (p.Gly45Cys) c.697G>T (p.Gly233Cys) c.-135G>T (n.-135G>T) | |
| 12 | g.51914469G>A | CA384900007 | ACVRL1 | c.386G>A (p.Gly129Asp) c.656G>A (p.Gly219Asp) c.134G>A (p.Gly45Asp) c.698G>A (p.Gly233Asp) c.-134G>A (n.-134G>A) | |
| 12 | g.51914469G>C | CA384900008 | ACVRL1 | c.386G>C (p.Gly129Ala) c.656G>C (p.Gly219Ala) c.134G>C (p.Gly45Ala) c.698G>C (p.Gly233Ala) c.-134G>C (n.-134G>C) | |
| 12 | g.51914469G>T | CA384900009 | ACVRL1 | c.386G>T (p.Gly129Val) c.656G>T (p.Gly219Val) c.134G>T (p.Gly45Val) c.698G>T (p.Gly233Val) c.-134G>T (n.-134G>T) | |
| 12 | g.51914470C>A | CA479807259 | ACVRL1 | c.387C>A (p.Gly129=) c.657C>A (p.Gly219=) c.135C>A (p.Gly45=) c.699C>A (p.Gly233=) c.-133C>A (n.-133C>A) | |
| 12 | g.51914470C= | CA2036268996 | ACVRL1 | c.387C= (p.Gly129=) c.657C= (p.Gly219=) c.135C= (p.Gly45=) c.699C= (p.Gly233=) c.-133C= (n.-133C=) | |
| 12 | g.51914470C>G | CA479807261 | ACVRL1 | c.387C>G (p.Gly129=) c.657C>G (p.Gly219=) c.135C>G (p.Gly45=) c.699C>G (p.Gly233=) c.-133C>G (n.-133C>G) | |
| 12 | g.51914470C>T | CA6572964 | ACVRL1 | c.387C>T (p.Gly129=) c.657C>T (p.Gly219=) c.135C>T (p.Gly45=) c.699C>T (p.Gly233=) c.-133C>T (n.-133C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914471T>A | CA384900010 | ACVRL1 | c.388T>A (p.Leu130Met) c.658T>A (p.Leu220Met) c.136T>A (p.Leu46Met) c.700T>A (p.Leu234Met) c.-132T>A (n.-132T>A) | |
| 12 | g.51914471T>C | CA479807274 | ACVRL1 | c.388T>C (p.Leu130=) c.658T>C (p.Leu220=) c.136T>C (p.Leu46=) c.700T>C (p.Leu234=) c.-132T>C (n.-132T>C) | |
| 12 | g.51914471T>G | CA384900011 | ACVRL1 | c.388T>G (p.Leu130Val) c.658T>G (p.Leu220Val) c.136T>G (p.Leu46Val) c.700T>G (p.Leu234Val) c.-132T>G (n.-132T>G) | |
| 12 | g.51914472T>A | CA384900012 | ACVRL1 | c.389T>A (p.Leu130Ter) c.659T>A (p.Leu220Ter) c.137T>A (p.Leu46Ter) c.701T>A (p.Leu234Ter) c.-131T>A (n.-131T>A) | |
| 12 | g.51914472T>C | CA384900013 | ACVRL1 | c.389T>C (p.Leu130Ser) c.659T>C (p.Leu220Ser) c.137T>C (p.Leu46Ser) c.701T>C (p.Leu234Ser) c.-131T>C (n.-131T>C) | |
| 12 | g.51914472T>G | CA384900014 | ACVRL1 | c.389T>G (p.Leu130Trp) c.659T>G (p.Leu220Trp) c.137T>G (p.Leu46Trp) c.701T>G (p.Leu234Trp) c.-131T>G (n.-131T>G) | |
| 12 | g.51914473G>A | CA479807289 | ACVRL1 | c.390G>A (p.Leu130=) c.660G>A (p.Leu220=) c.138G>A (p.Leu46=) c.702G>A (p.Leu234=) c.-130G>A (n.-130G>A) | |
| 12 | g.51914473G>C | CA6572965 | ACVRL1 | c.390G>C (p.Leu130Phe) c.660G>C (p.Leu220Phe) c.138G>C (p.Leu46Phe) c.702G>C (p.Leu234Phe) c.-130G>C (n.-130G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914473G= | CA2036268999 | ACVRL1 | c.390G= (p.Leu130=) c.660G= (p.Leu220=) c.138G= (p.Leu46=) c.702G= (p.Leu234=) c.-130G= (n.-130G=) | |
| 12 | g.51914473G>T | CA6572966 | ACVRL1 | c.390G>T (p.Leu130Phe) c.660G>T (p.Leu220Phe) c.138G>T (p.Leu46Phe) c.702G>T (p.Leu234Phe) c.-130G>T (n.-130G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914474T>A | CA384900016 | ACVRL1 | c.391T>A (p.Trp131Arg) c.661T>A (p.Trp221Arg) c.139T>A (p.Trp47Arg) c.703T>A (p.Trp235Arg) c.-129T>A (n.-129T>A) | |
| 12 | g.51914474T>C | CA384900017 | ACVRL1 | c.391T>C (p.Trp131Arg) c.661T>C (p.Trp221Arg) c.139T>C (p.Trp47Arg) c.703T>C (p.Trp235Arg) c.-129T>C (n.-129T>C) | |
| 12 | g.51914474T>G | CA384900015 | ACVRL1 | c.391T>G (p.Trp131Gly) c.661T>G (p.Trp221Gly) c.139T>G (p.Trp47Gly) c.703T>G (p.Trp235Gly) c.-129T>G (n.-129T>G) | |
| 12 | g.51914475G>A | CA384900018 | ACVRL1 | c.392G>A (p.Trp131Ter) c.662G>A (p.Trp221Ter) c.140G>A (p.Trp47Ter) c.704G>A (p.Trp235Ter) c.-128G>A (n.-128G>A) | |
| 12 | g.51914475G>C | CA384900019 | ACVRL1 | c.392G>C (p.Trp131Ser) c.662G>C (p.Trp221Ser) c.140G>C (p.Trp47Ser) c.704G>C (p.Trp235Ser) c.-128G>C (n.-128G>C) | |
| 12 | g.51914475G>T | CA384900020 | ACVRL1 | c.392G>T (p.Trp131Leu) c.662G>T (p.Trp221Leu) c.140G>T (p.Trp47Leu) c.704G>T (p.Trp235Leu) c.-128G>T (n.-128G>T) | |
| 12 | g.51914477_51914481del | CA2695216731 | ACVRL1 | c.394_398del (p.His132Ter) c.664_668del (p.His222Ter) c.142_146del (p.His48Ter) c.706_710del (p.His236Ter) c.-126_-122del (n.-126_-122del) | |
| 12 | g.51914476G>A | CA384900021 | ACVRL1 | c.393G>A (p.Trp131Ter) c.663G>A (p.Trp221Ter) c.141G>A (p.Trp47Ter) c.705G>A (p.Trp235Ter) c.-127G>A (n.-127G>A) | ClinVar dbSNP |
| 12 | g.51914476G>C | CA384900022 | ACVRL1 | c.393G>C (p.Trp131Cys) c.663G>C (p.Trp221Cys) c.141G>C (p.Trp47Cys) c.705G>C (p.Trp235Cys) c.-127G>C (n.-127G>C) | |
| 12 | g.51914476G>T | CA384900023 | ACVRL1 | c.393G>T (p.Trp131Cys) c.663G>T (p.Trp221Cys) c.141G>T (p.Trp47Cys) c.705G>T (p.Trp235Cys) c.-127G>T (n.-127G>T) | |
| 12 | g.51914476_51914477del | CA2695216733 | ACVRL1 | c.393_394del (p.Trp131Ter) c.663_664del (p.Trp221Ter) c.141_142del (p.Trp47Ter) c.705_706del (p.Trp235Ter) c.-127_-126del (n.-127_-126del) | |
| 12 | g.51914477C>A | CA384900024 | ACVRL1 | c.394C>A (p.His132Asn) c.664C>A (p.His222Asn) c.142C>A (p.His48Asn) c.706C>A (p.His236Asn) c.-126C>A (n.-126C>A) | |
| 12 | g.51914477C= | CA2036269004 | ACVRL1 | c.394C= (p.His132=) c.664C= (p.His222=) c.142C= (p.His48=) c.706C= (p.His236=) c.-126C= (n.-126C=) | |
| 12 | g.51914477C>G | CA384900025 | ACVRL1 | c.394C>G (p.His132Asp) c.664C>G (p.His222Asp) c.142C>G (p.His48Asp) c.706C>G (p.His236Asp) c.-126C>G (n.-126C>G) | |
| 12 | g.51914477C>T | CA6572967 | ACVRL1 | c.394C>T (p.His132Tyr) c.664C>T (p.His222Tyr) c.142C>T (p.His48Tyr) c.706C>T (p.His236Tyr) c.-126C>T (n.-126C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914478A>C | CA384900026 | ACVRL1 | c.395A>C (p.His132Pro) c.665A>C (p.His222Pro) c.143A>C (p.His48Pro) c.707A>C (p.His236Pro) c.-125A>C (n.-125A>C) | |
| 12 | g.51914478A>G | CA384900027 | ACVRL1 | c.395A>G (p.His132Arg) c.665A>G (p.His222Arg) c.143A>G (p.His48Arg) c.707A>G (p.His236Arg) c.-125A>G (n.-125A>G) | |
| 12 | g.51914478A>T | CA384900028 | ACVRL1 | c.395A>T (p.His132Leu) c.665A>T (p.His222Leu) c.143A>T (p.His48Leu) c.707A>T (p.His236Leu) c.-125A>T (n.-125A>T) | |
| 12 | g.51914479C>A | CA384900029 | ACVRL1 | c.396C>A (p.His132Gln) c.666C>A (p.His222Gln) c.144C>A (p.His48Gln) c.708C>A (p.His236Gln) c.-124C>A (n.-124C>A) | |
| 12 | g.51914479C= | CA2036269009 | ACVRL1 | c.396C= (p.His132=) c.666C= (p.His222=) c.144C= (p.His48=) c.708C= (p.His236=) c.-124C= (n.-124C=) | |
| 12 | g.51914479C>G | CA6572968 | ACVRL1 | c.396C>G (p.His132Gln) c.666C>G (p.His222Gln) c.144C>G (p.His48Gln) c.708C>G (p.His236Gln) c.-124C>G (n.-124C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914479C>T | CA6572969 | ACVRL1 | c.396C>T (p.His132=) c.666C>T (p.His222=) c.144C>T (p.His48=) c.708C>T (p.His236=) c.-124C>T (n.-124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914480G>A | CA384900030 | ACVRL1 | c.397G>A (p.Gly133Ser) c.667G>A (p.Gly223Ser) c.145G>A (p.Gly49Ser) c.709G>A (p.Gly237Ser) c.-123G>A (n.-123G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.51914480G>C | CA384900031 | ACVRL1 | c.397G>C (p.Gly133Arg) c.667G>C (p.Gly223Arg) c.145G>C (p.Gly49Arg) c.709G>C (p.Gly237Arg) c.-123G>C (n.-123G>C) | ClinVar |
| 12 | g.51914480G= | CA2036269014 | ACVRL1 | c.397G= (p.Gly133=) c.667G= (p.Gly223=) c.145G= (p.Gly49=) c.709G= (p.Gly237=) c.-123G= (n.-123G=) | |
| 12 | g.51914480G>T | CA384900032 | ACVRL1 | c.397G>T (p.Gly133Cys) c.667G>T (p.Gly223Cys) c.145G>T (p.Gly49Cys) c.709G>T (p.Gly237Cys) c.-123G>T (n.-123G>T) | |
| 12 | g.51914481G>A | CA384900033 | ACVRL1 | c.398G>A (p.Gly133Asp) c.668G>A (p.Gly223Asp) c.146G>A (p.Gly49Asp) c.710G>A (p.Gly237Asp) c.-122G>A (n.-122G>A) | |
| 12 | g.51914481G>C | CA384900034 | ACVRL1 | c.398G>C (p.Gly133Ala) c.668G>C (p.Gly223Ala) c.146G>C (p.Gly49Ala) c.710G>C (p.Gly237Ala) c.-122G>C (n.-122G>C) | |
| 12 | g.51914481G>T | CA384900035 | ACVRL1 | c.398G>T (p.Gly133Val) c.668G>T (p.Gly223Val) c.146G>T (p.Gly49Val) c.710G>T (p.Gly237Val) c.-122G>T (n.-122G>T) | |
| 12 | g.51914482T>A | CA479807767 | ACVRL1 | c.399T>A (p.Gly133=) c.669T>A (p.Gly223=) c.147T>A (p.Gly49=) c.711T>A (p.Gly237=) c.-121T>A (n.-121T>A) | |
| 12 | g.51914482T>C | CA479807769 | ACVRL1 | c.399T>C (p.Gly133=) c.669T>C (p.Gly223=) c.147T>C (p.Gly49=) c.711T>C (p.Gly237=) c.-121T>C (n.-121T>C) | |
| 12 | g.51914482T>G | CA479807774 | ACVRL1 | c.399T>G (p.Gly133=) c.669T>G (p.Gly223=) c.147T>G (p.Gly49=) c.711T>G (p.Gly237=) c.-121T>G (n.-121T>G) | dbSNP gnomAD v2 |
| 12 | g.51914482T= | CA2036269018 | ACVRL1 | c.399T= (p.Gly133=) c.669T= (p.Gly223=) c.147T= (p.Gly49=) c.711T= (p.Gly237=) c.-121T= (n.-121T=) | |
| 12 | g.51914482_51914484delinsTGA | CA2036269019 | ACVRL1 | c.399_401delinsTGA (p.Gly133=) c.669_671delinsTGA (p.Gly223=) c.147_149delinsTGA (p.Gly49=) c.711_713delinsTGA (p.Gly237=) c.-121_-119delinsTGA (n.-121_-119delinsTGA) | |
| 12 | g.51914483G>A | CA384900038 | ACVRL1 | c.400G>A (p.Glu134Lys) c.670G>A (p.Glu224Lys) c.148G>A (p.Glu50Lys) c.712G>A (p.Glu238Lys) c.-120G>A (n.-120G>A) | ClinVar |
| 12 | g.51914483G>C | CA384900036 | ACVRL1 | c.400G>C (p.Glu134Gln) c.670G>C (p.Glu224Gln) c.148G>C (p.Glu50Gln) c.712G>C (p.Glu238Gln) c.-120G>C (n.-120G>C) | |
| 12 | g.51914483G>T | CA384900037 | ACVRL1 | c.400G>T (p.Glu134Ter) c.670G>T (p.Glu224Ter) c.148G>T (p.Glu50Ter) c.712G>T (p.Glu238Ter) c.-120G>T (n.-120G>T) | ClinVar |
| 12 | g.51914486_51914487del | CA2036269021 | ACVRL1 | c.403_404del (p.Ser135CysfsTer11) c.673_674del (p.Ser225CysfsTer11) c.151_152del (p.Ser51CysfsTer11) c.715_716del (p.Ser239CysfsTer11) c.-117_-116del (n.-117_-116del) | ClinVar dbSNP |
| 12 | g.51914484A>C | CA384900039 | ACVRL1 | c.401A>C (p.Glu134Ala) c.671A>C (p.Glu224Ala) c.149A>C (p.Glu50Ala) c.713A>C (p.Glu238Ala) c.-119A>C (n.-119A>C) | |
| 12 | g.51914484A>G | CA384900040 | ACVRL1 | c.401A>G (p.Glu134Gly) c.671A>G (p.Glu224Gly) c.149A>G (p.Glu50Gly) c.713A>G (p.Glu238Gly) c.-119A>G (n.-119A>G) | |
| 12 | g.51914484A>T | CA384900041 | ACVRL1 | c.401A>T (p.Glu134Val) c.671A>T (p.Glu224Val) c.149A>T (p.Glu50Val) c.713A>T (p.Glu238Val) c.-119A>T (n.-119A>T) | |
| 12 | g.51914485G>A | CA479807788 | ACVRL1 | c.402G>A (p.Glu134=) c.672G>A (p.Glu224=) c.150G>A (p.Glu50=) c.714G>A (p.Glu238=) c.-118G>A (n.-118G>A) | |
| 12 | g.51914485G>C | CA384900042 | ACVRL1 | c.402G>C (p.Glu134Asp) c.672G>C (p.Glu224Asp) c.150G>C (p.Glu50Asp) c.714G>C (p.Glu238Asp) c.-118G>C (n.-118G>C) | dbSNP gnomAD v4 |
| 12 | g.51914485G= | CA2036269023 | ACVRL1 | c.402G= (p.Glu134=) c.672G= (p.Glu224=) c.150G= (p.Glu50=) c.714G= (p.Glu238=) c.-118G= (n.-118G=) | |
| 12 | g.51914485G>T | CA384900043 | ACVRL1 | c.402G>T (p.Glu134Asp) c.672G>T (p.Glu224Asp) c.150G>T (p.Glu50Asp) c.714G>T (p.Glu238Asp) c.-118G>T (n.-118G>T) | |
| 12 | g.51914486del | CA2580086470 | ACVRL1 | c.403del (p.Ser135ValfsTer?) c.673del (p.Ser225ValfsTer?) c.151del (p.Ser51ValfsTer?) c.715del (p.Ser239ValfsTer?) c.-117del (n.-117del) | ClinVar |
| 12 | g.51914486A>C | CA384900046 | ACVRL1 | c.403A>C (p.Ser135Arg) c.673A>C (p.Ser225Arg) c.151A>C (p.Ser51Arg) c.715A>C (p.Ser239Arg) c.-117A>C (n.-117A>C) | |
| 12 | g.51914486A>G | CA384900045 | ACVRL1 | c.403A>G (p.Ser135Gly) c.673A>G (p.Ser225Gly) c.151A>G (p.Ser51Gly) c.715A>G (p.Ser239Gly) c.-117A>G (n.-117A>G) | |
| 12 | g.51914486A>T | CA384900044 | ACVRL1 | c.403A>T (p.Ser135Cys) c.673A>T (p.Ser225Cys) c.151A>T (p.Ser51Cys) c.715A>T (p.Ser239Cys) c.-117A>T (n.-117A>T) | |
| 12 | g.51914487G>A | CA6572970 | ACVRL1 | c.404G>A (p.Ser135Asn) c.674G>A (p.Ser225Asn) c.152G>A (p.Ser51Asn) c.716G>A (p.Ser239Asn) c.-116G>A (n.-116G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914487G>C | CA384900048 | ACVRL1 | c.404G>C (p.Ser135Thr) c.674G>C (p.Ser225Thr) c.152G>C (p.Ser51Thr) c.716G>C (p.Ser239Thr) c.-116G>C (n.-116G>C) | |
| 12 | g.51914487G= | CA2036269025 | ACVRL1 | c.404G= (p.Ser135=) c.674G= (p.Ser225=) c.152G= (p.Ser51=) c.716G= (p.Ser239=) c.-116G= (n.-116G=) | |
| 12 | g.51914487G>T | CA384900047 | ACVRL1 | c.404G>T (p.Ser135Ile) c.674G>T (p.Ser225Ile) c.152G>T (p.Ser51Ile) c.716G>T (p.Ser239Ile) c.-116G>T (n.-116G>T) | dbSNP gnomAD v4 |
| 12 | g.51914488T>A | CA384900049 | ACVRL1 | c.405T>A (p.Ser135Arg) c.675T>A (p.Ser225Arg) c.153T>A (p.Ser51Arg) c.717T>A (p.Ser239Arg) c.-115T>A (n.-115T>A) | |
| 12 | g.51914488T>C | CA479807811 | ACVRL1 | c.405T>C (p.Ser135=) c.675T>C (p.Ser225=) c.153T>C (p.Ser51=) c.717T>C (p.Ser239=) c.-115T>C (n.-115T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914488T>G | CA384900050 | ACVRL1 | c.405T>G (p.Ser135Arg) c.675T>G (p.Ser225Arg) c.153T>G (p.Ser51Arg) c.717T>G (p.Ser239Arg) c.-115T>G (n.-115T>G) | |
| 12 | g.51914488T= | CA2036269027 | ACVRL1 | c.405T= (p.Ser135=) c.675T= (p.Ser225=) c.153T= (p.Ser51=) c.717T= (p.Ser239=) c.-115T= (n.-115T=) | |
| 12 | g.51914489G>A | CA384900051 | ACVRL1 | c.406G>A (p.Val136Met) c.676G>A (p.Val226Met) c.154G>A (p.Val52Met) c.718G>A (p.Val240Met) c.-114G>A (n.-114G>A) | |
| 12 | g.51914489G>C | CA384900052 | ACVRL1 | c.406G>C (p.Val136Leu) c.676G>C (p.Val226Leu) c.154G>C (p.Val52Leu) c.718G>C (p.Val240Leu) c.-114G>C (n.-114G>C) | |
| 12 | g.51914489G>T | CA384900053 | ACVRL1 | c.406G>T (p.Val136Leu) c.676G>T (p.Val226Leu) c.154G>T (p.Val52Leu) c.718G>T (p.Val240Leu) c.-114G>T (n.-114G>T) | |
| 12 | g.51914490T>A | CA384900054 | ACVRL1 | c.407T>A (p.Val136Glu) c.677T>A (p.Val226Glu) c.155T>A (p.Val52Glu) c.719T>A (p.Val240Glu) c.-113T>A (n.-113T>A) | ClinVar dbSNP |
| 12 | g.51914490T>C | CA384900055 | ACVRL1 | c.407T>C (p.Val136Ala) c.677T>C (p.Val226Ala) c.155T>C (p.Val52Ala) c.719T>C (p.Val240Ala) c.-113T>C (n.-113T>C) | |
| 12 | g.51914490T>G | CA384900056 | ACVRL1 | c.407T>G (p.Val136Gly) c.677T>G (p.Val226Gly) c.155T>G (p.Val52Gly) c.719T>G (p.Val240Gly) c.-113T>G (n.-113T>G) | |
| 12 | g.51914490T= | CA2036269030 | ACVRL1 | c.407T= (p.Val136=) c.677T= (p.Val226=) c.155T= (p.Val52=) c.719T= (p.Val240=) c.-113T= (n.-113T=) | |
| 12 | g.51914491G>A | CA479807821 | ACVRL1 | c.408G>A (p.Val136=) c.678G>A (p.Val226=) c.156G>A (p.Val52=) c.720G>A (p.Val240=) c.-112G>A (n.-112G>A) | gnomAD v4 |
| 12 | g.51914491G>C | CA479807822 | ACVRL1 | c.408G>C (p.Val136=) c.678G>C (p.Val226=) c.156G>C (p.Val52=) c.720G>C (p.Val240=) c.-112G>C (n.-112G>C) | |
| 12 | g.51914491G>T | CA479807824 | ACVRL1 | c.408G>T (p.Val136=) c.678G>T (p.Val226=) c.156G>T (p.Val52=) c.720G>T (p.Val240=) c.-112G>T (n.-112G>T) | |
| 12 | g.51914492G>A | CA384900057 | ACVRL1 | c.409G>A (p.Ala137Thr) c.679G>A (p.Ala227Thr) c.157G>A (p.Ala53Thr) c.721G>A (p.Ala241Thr) c.-111G>A (n.-111G>A) | gnomAD v4 |
| 12 | g.51914492G>C | CA384900058 | ACVRL1 | c.409G>C (p.Ala137Pro) c.679G>C (p.Ala227Pro) c.157G>C (p.Ala53Pro) c.721G>C (p.Ala241Pro) c.-111G>C (n.-111G>C) | |
| 12 | g.51914492G>T | CA384900059 | ACVRL1 | c.409G>T (p.Ala137Ser) c.679G>T (p.Ala227Ser) c.157G>T (p.Ala53Ser) c.721G>T (p.Ala241Ser) c.-111G>T (n.-111G>T) | |
| 12 | g.51914493C>A | CA384900062 | ACVRL1 | c.410C>A (p.Ala137Asp) c.680C>A (p.Ala227Asp) c.158C>A (p.Ala53Asp) c.722C>A (p.Ala241Asp) c.-110C>A (n.-110C>A) | |
| 12 | g.51914493C>G | CA384900061 | ACVRL1 | c.410C>G (p.Ala137Gly) c.680C>G (p.Ala227Gly) c.158C>G (p.Ala53Gly) c.722C>G (p.Ala241Gly) c.-110C>G (n.-110C>G) | |
| 12 | g.51914493C>T | CA384900060 | ACVRL1 | c.410C>T (p.Ala137Val) c.680C>T (p.Ala227Val) c.158C>T (p.Ala53Val) c.722C>T (p.Ala241Val) c.-110C>T (n.-110C>T) | gnomAD v4 COSMIC COSMIC |
| 12 | g.51914494C>A | CA479807835 | ACVRL1 | c.411C>A (p.Ala137=) c.681C>A (p.Ala227=) c.159C>A (p.Ala53=) c.723C>A (p.Ala241=) c.-109C>A (n.-109C>A) | dbSNP COSMIC COSMIC |
| 12 | g.51914494C= | CA2036269036 | ACVRL1 | c.411C= (p.Ala137=) c.681C= (p.Ala227=) c.159C= (p.Ala53=) c.723C= (p.Ala241=) c.-109C= (n.-109C=) | |
| 12 | g.51914494C>G | CA479807838 | ACVRL1 | c.411C>G (p.Ala137=) c.681C>G (p.Ala227=) c.159C>G (p.Ala53=) c.723C>G (p.Ala241=) c.-109C>G (n.-109C>G) | |
| 12 | g.51914494C>T | CA6572971 | ACVRL1 | c.411C>T (p.Ala137=) c.681C>T (p.Ala227=) c.159C>T (p.Ala53=) c.723C>T (p.Ala241=) c.-109C>T (n.-109C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51914495del | CA2695216735 | ACVRL1 | c.412del (p.Val138SerfsTer30) c.682del (p.Val228SerfsTer30) c.160del (p.Val54SerfsTer30) c.412del (p.Val138SerfsTer?) c.724del (p.Val242SerfsTer30) c.-108del (n.-108del) | |
| 12 | g.51914495G>A | CA322926 | ACVRL1 | c.412G>A (p.Val138Ile) c.682G>A (p.Val228Ile) c.160G>A (p.Val54Ile) c.724G>A (p.Val242Ile) c.-108G>A (n.-108G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914495G>C | CA384900063 | ACVRL1 | c.412G>C (p.Val138Leu) c.682G>C (p.Val228Leu) c.160G>C (p.Val54Leu) c.724G>C (p.Val242Leu) c.-108G>C (n.-108G>C) | |
| 12 | g.51914495G= | CA2036269044 | ACVRL1 | c.412G= (p.Val138=) c.682G= (p.Val228=) c.160G= (p.Val54=) c.724G= (p.Val242=) c.-108G= (n.-108G=) | |
| 12 | g.51914495G>T | CA384900064 | ACVRL1 | c.412G>T (p.Val138Phe) c.682G>T (p.Val228Phe) c.160G>T (p.Val54Phe) c.724G>T (p.Val242Phe) c.-108G>T (n.-108G>T) | |
| 12 | g.51914496T>A | CA384900065 | ACVRL1 | c.413T>A (p.Val138Asp) c.683T>A (p.Val228Asp) c.161T>A (p.Val54Asp) c.725T>A (p.Val242Asp) c.-107T>A (n.-107T>A) | |
| 12 | g.51914496T>C | CA384900066 | ACVRL1 | c.413T>C (p.Val138Ala) c.683T>C (p.Val228Ala) c.161T>C (p.Val54Ala) c.725T>C (p.Val242Ala) c.-107T>C (n.-107T>C) | |
| 12 | g.51914496T>G | CA384900067 | ACVRL1 | c.413T>G (p.Val138Gly) c.683T>G (p.Val228Gly) c.161T>G (p.Val54Gly) c.725T>G (p.Val242Gly) c.-107T>G (n.-107T>G) | |
| 12 | g.51914497C>A | CA479807849 | ACVRL1 | c.414C>A (p.Val138=) c.684C>A (p.Val228=) c.162C>A (p.Val54=) c.726C>A (p.Val242=) c.-106C>A (n.-106C>A) | |
| 12 | g.51914497C>G | CA479807852 | ACVRL1 | c.414C>G (p.Val138=) c.684C>G (p.Val228=) c.162C>G (p.Val54=) c.726C>G (p.Val242=) c.-106C>G (n.-106C>G) | gnomAD v4 |
| 12 | g.51914497C>T | CA479807854 | ACVRL1 | c.414C>T (p.Val138=) c.684C>T (p.Val228=) c.162C>T (p.Val54=) c.726C>T (p.Val242=) c.-106C>T (n.-106C>T) | |
| 12 | g.51914498A= | CA2036269053 | ACVRL1 | c.415A= (p.Lys139=) c.685A= (p.Lys229=) c.163A= (p.Lys55=) c.727A= (p.Lys243=) c.-105A= (n.-105A=) | |
| 12 | g.51914498A>C | CA384900068 | ACVRL1 | c.415A>C (p.Lys139Gln) c.685A>C (p.Lys229Gln) c.163A>C (p.Lys55Gln) c.727A>C (p.Lys243Gln) c.-105A>C (n.-105A>C) | |
| 12 | g.51914498A>G | CA384900069 | ACVRL1 | c.415A>G (p.Lys139Glu) c.685A>G (p.Lys229Glu) c.163A>G (p.Lys55Glu) c.727A>G (p.Lys243Glu) c.-105A>G (n.-105A>G) | ClinVar dbSNP |
| 12 | g.51914498A>T | CA384900070 | ACVRL1 | c.415A>T (p.Lys139Ter) c.685A>T (p.Lys229Ter) c.163A>T (p.Lys55Ter) c.727A>T (p.Lys243Ter) c.-105A>T (n.-105A>T) | |
| 12 | g.51914499A= | CA2036269061 | ACVRL1 | c.416A= (p.Lys139=) c.686A= (p.Lys229=) c.164A= (p.Lys55=) c.728A= (p.Lys243=) c.-104A= (n.-104A=) | |
| 12 | g.51914499A>C | CA384900071 | ACVRL1 | c.416A>C (p.Lys139Thr) c.686A>C (p.Lys229Thr) c.164A>C (p.Lys55Thr) c.728A>C (p.Lys243Thr) c.-104A>C (n.-104A>C) | |
| 12 | g.51914499A>G | CA384900072 | ACVRL1 | c.416A>G (p.Lys139Arg) c.686A>G (p.Lys229Arg) c.164A>G (p.Lys55Arg) c.728A>G (p.Lys243Arg) c.-104A>G (n.-104A>G) | ClinVar |
| 12 | g.51914499A>T | CA384900073 | ACVRL1 | c.416A>T (p.Lys139Met) c.686A>T (p.Lys229Met) c.164A>T (p.Lys55Met) c.728A>T (p.Lys243Met) c.-104A>T (n.-104A>T) | ClinVar dbSNP |
| 12 | g.51914500G>A | CA479807858 | ACVRL1 | c.417G>A (p.Lys139=) c.687G>A (p.Lys229=) c.165G>A (p.Lys55=) c.729G>A (p.Lys243=) c.-103G>A (n.-103G>A) | gnomAD v4 |
| 12 | g.51914500G>C | CA384900074 | ACVRL1 | c.417G>C (p.Lys139Asn) c.687G>C (p.Lys229Asn) c.165G>C (p.Lys55Asn) c.729G>C (p.Lys243Asn) c.-103G>C (n.-103G>C) | ClinVar dbSNP |
| 12 | g.51914500G= | CA2036269065 | ACVRL1 | c.417G= (p.Lys139=) c.687G= (p.Lys229=) c.165G= (p.Lys55=) c.729G= (p.Lys243=) c.-103G= (n.-103G=) | |
| 12 | g.51914500G>T | CA384900075 | ACVRL1 | c.417G>T (p.Lys139Asn) c.687G>T (p.Lys229Asn) c.165G>T (p.Lys55Asn) c.729G>T (p.Lys243Asn) c.-103G>T (n.-103G>T) | |
| 12 | g.51914501A>C | CA384900076 | ACVRL1 | c.418A>C (p.Ile140Leu) c.688A>C (p.Ile230Leu) c.166A>C (p.Ile56Leu) c.730A>C (p.Ile244Leu) c.-102A>C (n.-102A>C) | |
| 12 | g.51914501A>G | CA384900077 | ACVRL1 | c.418A>G (p.Ile140Val) c.688A>G (p.Ile230Val) c.166A>G (p.Ile56Val) c.730A>G (p.Ile244Val) c.-102A>G (n.-102A>G) | |
| 12 | g.51914501A>T | CA384900078 | ACVRL1 | c.418A>T (p.Ile140Phe) c.688A>T (p.Ile230Phe) c.166A>T (p.Ile56Phe) c.730A>T (p.Ile244Phe) c.-102A>T (n.-102A>T) | ClinVar |
| 12 | g.51914502T>A | CA384900079 | ACVRL1 | c.419T>A (p.Ile140Asn) c.689T>A (p.Ile230Asn) c.167T>A (p.Ile56Asn) c.731T>A (p.Ile244Asn) c.-101T>A (n.-101T>A) | |
| 12 | g.51914502T>C | CA384900080 | ACVRL1 | c.419T>C (p.Ile140Thr) c.689T>C (p.Ile230Thr) c.167T>C (p.Ile56Thr) c.731T>C (p.Ile244Thr) c.-101T>C (n.-101T>C) | |
| 12 | g.51914502T>G | CA384900081 | ACVRL1 | c.419T>G (p.Ile140Ser) c.689T>G (p.Ile230Ser) c.167T>G (p.Ile56Ser) c.731T>G (p.Ile244Ser) c.-101T>G (n.-101T>G) | |
| 12 | g.51914505_51914507del | CA2580615205 | ACVRL1 | c.422_424del (p.Phe141del) c.692_694del (p.Phe231del) c.170_172del (p.Phe57del) c.734_736del (p.Phe245del) c.-98_-96del (n.-98_-96del) | ClinVar |
| 12 | g.51914503C>A | CA479807872 | ACVRL1 | c.420C>A (p.Ile140=) c.690C>A (p.Ile230=) c.168C>A (p.Ile56=) c.732C>A (p.Ile244=) c.-100C>A (n.-100C>A) | ClinVar |
| 12 | g.51914503C>G | CA384900082 | ACVRL1 | c.420C>G (p.Ile140Met) c.690C>G (p.Ile230Met) c.168C>G (p.Ile56Met) c.732C>G (p.Ile244Met) c.-100C>G (n.-100C>G) | |
| 12 | g.51914503C>T | CA479807879 | ACVRL1 | c.420C>T (p.Ile140=) c.690C>T (p.Ile230=) c.168C>T (p.Ile56=) c.732C>T (p.Ile244=) c.-100C>T (n.-100C>T) | gnomAD v4 |
| 12 | g.51914504T>A | CA384900083 | ACVRL1 | c.421T>A (p.Phe141Ile) c.691T>A (p.Phe231Ile) c.169T>A (p.Phe57Ile) c.733T>A (p.Phe245Ile) c.-99T>A (n.-99T>A) | |
| 12 | g.51914504T>C | CA384900084 | ACVRL1 | c.421T>C (p.Phe141Leu) c.691T>C (p.Phe231Leu) c.169T>C (p.Phe57Leu) c.733T>C (p.Phe245Leu) c.-99T>C (n.-99T>C) | |
| 12 | g.51914504T>G | CA384900085 | ACVRL1 | c.421T>G (p.Phe141Val) c.691T>G (p.Phe231Val) c.169T>G (p.Phe57Val) c.733T>G (p.Phe245Val) c.-99T>G (n.-99T>G) | |
| 12 | g.51914505T>A | CA384900086 | ACVRL1 | c.422T>A (p.Phe141Tyr) c.692T>A (p.Phe231Tyr) c.170T>A (p.Phe57Tyr) c.734T>A (p.Phe245Tyr) c.-98T>A (n.-98T>A) | |
| 12 | g.51914505T>C | CA384900087 | ACVRL1 | c.422T>C (p.Phe141Ser) c.692T>C (p.Phe231Ser) c.170T>C (p.Phe57Ser) c.734T>C (p.Phe245Ser) c.-98T>C (n.-98T>C) | |
| 12 | g.51914505T>G | CA384900088 | ACVRL1 | c.422T>G (p.Phe141Cys) c.692T>G (p.Phe231Cys) c.170T>G (p.Phe57Cys) c.734T>G (p.Phe245Cys) c.-98T>G (n.-98T>G) | |
| 12 | g.51914505_51914508delinsTCTC | CA2036269070 | ACVRL1 | c.422_425delinsTCTC (p.Phe141=) c.692_695delinsTCTC (p.Phe231=) c.170_173delinsTCTC (p.Phe57=) c.734_737delinsTCTC (p.Phe245=) c.-98_-95delinsTCTC (n.-98_-95delinsTCTC) | |
| 12 | g.51914506C>A | CA384900090 | ACVRL1 | c.423C>A (p.Phe141Leu) c.693C>A (p.Phe231Leu) c.171C>A (p.Phe57Leu) c.735C>A (p.Phe245Leu) c.-97C>A (n.-97C>A) | dbSNP |
| 12 | g.51914506C>G | CA384900089 | ACVRL1 | c.423C>G (p.Phe141Leu) c.693C>G (p.Phe231Leu) c.171C>G (p.Phe57Leu) c.735C>G (p.Phe245Leu) c.-97C>G (n.-97C>G) | |
| 12 | g.51914506C>T | CA479807897 | ACVRL1 | c.423C>T (p.Phe141=) c.693C>T (p.Phe231=) c.171C>T (p.Phe57=) c.735C>T (p.Phe245=) c.-97C>T (n.-97C>T) | |
| 12 | g.51914509_51914511del | CA254369 | ACVRL1 | c.426_428del (p.Ser143del) c.696_698del (p.Ser233del) c.174_176del (p.Ser59del) c.738_740del (p.Ser247del) c.-94_-92del (n.-94_-92del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914507T>A | CA384900091 | ACVRL1 | c.424T>A (p.Ser142Thr) c.694T>A (p.Ser232Thr) c.172T>A (p.Ser58Thr) c.736T>A (p.Ser246Thr) c.-96T>A (n.-96T>A) | |
| 12 | g.51914507T>C | CA384900092 | ACVRL1 | c.424T>C (p.Ser142Pro) c.694T>C (p.Ser232Pro) c.172T>C (p.Ser58Pro) c.736T>C (p.Ser246Pro) c.-96T>C (n.-96T>C) | |
| 12 | g.51914507T>G | CA384900093 | ACVRL1 | c.424T>G (p.Ser142Ala) c.694T>G (p.Ser232Ala) c.172T>G (p.Ser58Ala) c.736T>G (p.Ser246Ala) c.-96T>G (n.-96T>G) | |
| 12 | g.51914508C>A | CA384900094 | ACVRL1 | c.425C>A (p.Ser142Tyr) c.695C>A (p.Ser232Tyr) c.173C>A (p.Ser58Tyr) c.737C>A (p.Ser246Tyr) c.-95C>A (n.-95C>A) | |
| 12 | g.51914508C= | CA2036269078 | ACVRL1 | c.425C= (p.Ser142=) c.695C= (p.Ser232=) c.173C= (p.Ser58=) c.737C= (p.Ser246=) c.-95C= (n.-95C=) | |
| 12 | g.51914508C>G | CA384900095 | ACVRL1 | c.425C>G (p.Ser142Cys) c.695C>G (p.Ser232Cys) c.173C>G (p.Ser58Cys) c.737C>G (p.Ser246Cys) c.-95C>G (n.-95C>G) | |
| 12 | g.51914508C>T | CA384900096 | ACVRL1 | c.425C>T (p.Ser142Phe) c.695C>T (p.Ser232Phe) c.173C>T (p.Ser58Phe) c.737C>T (p.Ser246Phe) c.-95C>T (n.-95C>T) | dbSNP COSMIC COSMIC |
| 12 | g.51914509C>A | CA479807908 | ACVRL1 | c.426C>A (p.Ser142=) c.696C>A (p.Ser232=) c.174C>A (p.Ser58=) c.738C>A (p.Ser246=) c.-94C>A (n.-94C>A) | |
| 12 | g.51914509C= | CA2036269081 | ACVRL1 | c.426C= (p.Ser142=) c.696C= (p.Ser232=) c.174C= (p.Ser58=) c.738C= (p.Ser246=) c.-94C= (n.-94C=) | |
| 12 | g.51914509C>G | CA479807910 | ACVRL1 | c.426C>G (p.Ser142=) c.696C>G (p.Ser232=) c.174C>G (p.Ser58=) c.738C>G (p.Ser246=) c.-94C>G (n.-94C>G) | |
| 12 | g.51914509C>T | CA479807911 | ACVRL1 | c.426C>T (p.Ser142=) c.696C>T (p.Ser232=) c.174C>T (p.Ser58=) c.738C>T (p.Ser246=) c.-94C>T (n.-94C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914510T>A | CA384900097 | ACVRL1 | c.427T>A (p.Ser143Thr) c.697T>A (p.Ser233Thr) c.175T>A (p.Ser59Thr) c.739T>A (p.Ser247Thr) c.-93T>A (n.-93T>A) | |
| 12 | g.51914510T>C | CA384900098 | ACVRL1 | c.427T>C (p.Ser143Pro) c.697T>C (p.Ser233Pro) c.175T>C (p.Ser59Pro) c.739T>C (p.Ser247Pro) c.-93T>C (n.-93T>C) | |
| 12 | g.51914510T>G | CA384900099 | ACVRL1 | c.427T>G (p.Ser143Ala) c.697T>G (p.Ser233Ala) c.175T>G (p.Ser59Ala) c.739T>G (p.Ser247Ala) c.-93T>G (n.-93T>G) | |
| 12 | g.51914511C>A | CA384900100 | ACVRL1 | c.428C>A (p.Ser143Ter) c.698C>A (p.Ser233Ter) c.176C>A (p.Ser59Ter) c.740C>A (p.Ser247Ter) c.-92C>A (n.-92C>A) | |
| 12 | g.51914511C= | CA2036269086 | ACVRL1 | c.428C= (p.Ser143=) c.698C= (p.Ser233=) c.176C= (p.Ser59=) c.740C= (p.Ser247=) c.-92C= (n.-92C=) | |
| 12 | g.51914511C>G | CA384900101 | ACVRL1 | c.428C>G (p.Ser143Trp) c.698C>G (p.Ser233Trp) c.176C>G (p.Ser59Trp) c.740C>G (p.Ser247Trp) c.-92C>G (n.-92C>G) | ClinVar dbSNP |
| 12 | g.51914511C>T | CA6572972 | ACVRL1 | c.428C>T (p.Ser143Leu) c.698C>T (p.Ser233Leu) c.176C>T (p.Ser59Leu) c.740C>T (p.Ser247Leu) c.-92C>T (n.-92C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.51914511_51914512dup | CA2573148781 | ACVRL1 | c.428_429dup (p.Asp145GlyfsTer24) c.698_699dup (p.Asp235GlyfsTer24) c.176_177dup (p.Asp61GlyfsTer24) c.428_429dup (p.Asp145GlyfsTer?) c.740_741dup (p.Asp249GlyfsTer24) c.-92_-91dup (n.-92_-91dup) | ClinVar dbSNP |
| 12 | g.51914512G>A | CA6572973 | ACVRL1 | c.429G>A (p.Ser143=) c.699G>A (p.Ser233=) c.177G>A (p.Ser59=) c.741G>A (p.Ser247=) c.-91G>A (n.-91G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914512G>C | CA479807925 | ACVRL1 | c.429G>C (p.Ser143=) c.699G>C (p.Ser233=) c.177G>C (p.Ser59=) c.741G>C (p.Ser247=) c.-91G>C (n.-91G>C) | |
| 12 | g.51914512G= | CA2036269089 | ACVRL1 | c.429G= (p.Ser143=) c.699G= (p.Ser233=) c.177G= (p.Ser59=) c.741G= (p.Ser247=) c.-91G= (n.-91G=) | |
| 12 | g.51914512G>T | CA479807927 | ACVRL1 | c.429G>T (p.Ser143=) c.699G>T (p.Ser233=) c.177G>T (p.Ser59=) c.741G>T (p.Ser247=) c.-91G>T (n.-91G>T) | gnomAD v4 |
| 12 | g.51914513A>C | CA479807931 | ACVRL1 | c.430A>C (p.Arg144=) c.700A>C (p.Arg234=) c.178A>C (p.Arg60=) c.742A>C (p.Arg248=) c.-90A>C (n.-90A>C) | |
| 12 | g.51914513A>G | CA384900102 | ACVRL1 | c.430A>G (p.Arg144Gly) c.700A>G (p.Arg234Gly) c.178A>G (p.Arg60Gly) c.742A>G (p.Arg248Gly) c.-90A>G (n.-90A>G) | |
| 12 | g.51914513A>T | CA384900103 | ACVRL1 | c.430A>T (p.Arg144Trp) c.700A>T (p.Arg234Trp) c.178A>T (p.Arg60Trp) c.742A>T (p.Arg248Trp) c.-90A>T (n.-90A>T) | |
| 12 | g.51914514G>A | CA384900104 | ACVRL1 | c.431G>A (p.Arg144Lys) c.701G>A (p.Arg234Lys) c.179G>A (p.Arg60Lys) c.743G>A (p.Arg248Lys) c.-89G>A (n.-89G>A) | |
| 12 | g.51914514G>C | CA384900106 | ACVRL1 | c.431G>C (p.Arg144Thr) c.701G>C (p.Arg234Thr) c.179G>C (p.Arg60Thr) c.743G>C (p.Arg248Thr) c.-89G>C (n.-89G>C) | gnomAD v4 |
| 12 | g.51914514G>T | CA384900105 | ACVRL1 | c.431G>T (p.Arg144Met) c.701G>T (p.Arg234Met) c.179G>T (p.Arg60Met) c.743G>T (p.Arg248Met) c.-89G>T (n.-89G>T) | |
| 12 | g.51914516del | CA2580086471 | ACVRL1 | c.433del (p.Asp145MetfsTer23) c.703del (p.Asp235MetfsTer23) c.181del (p.Asp61MetfsTer23) c.433del (p.Asp145MetfsTer?) c.745del (p.Asp249MetfsTer23) c.-87del (n.-87del) | ClinVar |
| 12 | g.51914515G>A | CA479807939 | ACVRL1 | c.432G>A (p.Arg144=) c.702G>A (p.Arg234=) c.180G>A (p.Arg60=) c.744G>A (p.Arg248=) c.-88G>A (n.-88G>A) | |
| 12 | g.51914515G>C | CA384900108 | ACVRL1 | c.432G>C (p.Arg144Ser) c.702G>C (p.Arg234Ser) c.180G>C (p.Arg60Ser) c.744G>C (p.Arg248Ser) c.-88G>C (n.-88G>C) | |
| 12 | g.51914515G>T | CA384900109 | ACVRL1 | c.432G>T (p.Arg144Ser) c.702G>T (p.Arg234Ser) c.180G>T (p.Arg60Ser) c.744G>T (p.Arg248Ser) c.-88G>T (n.-88G>T) | |
| 12 | g.51914516G>A | CA384900110 | ACVRL1 | c.433G>A (p.Asp145Asn) c.703G>A (p.Asp235Asn) c.181G>A (p.Asp61Asn) c.745G>A (p.Asp249Asn) c.-87G>A (n.-87G>A) | |
| 12 | g.51914516G>C | CA384900111 | ACVRL1 | c.433G>C (p.Asp145His) c.703G>C (p.Asp235His) c.181G>C (p.Asp61His) c.745G>C (p.Asp249His) c.-87G>C (n.-87G>C) | |
| 12 | g.51914516G>T | CA384900112 | ACVRL1 | c.433G>T (p.Asp145Tyr) c.703G>T (p.Asp235Tyr) c.181G>T (p.Asp61Tyr) c.745G>T (p.Asp249Tyr) c.-87G>T (n.-87G>T) | |
| 12 | g.51914517del | CA2695216736 | ACVRL1 | c.434del (p.Asp145ValfsTer23) c.704del (p.Asp235ValfsTer23) c.182del (p.Asp61ValfsTer23) c.434del (p.Asp145ValfsTer?) c.746del (p.Asp249ValfsTer23) c.-86del (n.-86del) | |
| 12 | g.51914517A>C | CA384900113 | ACVRL1 | c.434A>C (p.Asp145Ala) c.704A>C (p.Asp235Ala) c.182A>C (p.Asp61Ala) c.746A>C (p.Asp249Ala) c.-86A>C (n.-86A>C) | |
| 12 | g.51914517A>G | CA384900114 | ACVRL1 | c.434A>G (p.Asp145Gly) c.704A>G (p.Asp235Gly) c.182A>G (p.Asp61Gly) c.746A>G (p.Asp249Gly) c.-86A>G (n.-86A>G) | ClinVar |
| 12 | g.51914517A>T | CA384900115 | ACVRL1 | c.434A>T (p.Asp145Val) c.704A>T (p.Asp235Val) c.182A>T (p.Asp61Val) c.746A>T (p.Asp249Val) c.-86A>T (n.-86A>T) | |
| 12 | g.51914518T>A | CA384900116 | ACVRL1 | c.435T>A (p.Asp145Glu) c.705T>A (p.Asp235Glu) c.183T>A (p.Asp61Glu) c.747T>A (p.Asp249Glu) c.-85T>A (n.-85T>A) | |
| 12 | g.51914518T>C | CA236363417 | ACVRL1 | c.435T>C (p.Asp145=) c.705T>C (p.Asp235=) c.183T>C (p.Asp61=) c.747T>C (p.Asp249=) c.-85T>C (n.-85T>C) | dbSNP |
| 12 | g.51914518T>G | CA384900117 | ACVRL1 | c.435T>G (p.Asp145Glu) c.705T>G (p.Asp235Glu) c.183T>G (p.Asp61Glu) c.747T>G (p.Asp249Glu) c.-85T>G (n.-85T>G) | |
| 12 | g.51914518T= | CA2036269092 | ACVRL1 | c.435T= (p.Asp145=) c.705T= (p.Asp235=) c.183T= (p.Asp61=) c.747T= (p.Asp249=) c.-85T= (n.-85T=) | |
| 12 | g.51914519G>A | CA384900118 | ACVRL1 | c.436G>A (p.Glu146Lys) c.706G>A (p.Glu236Lys) c.184G>A (p.Glu62Lys) c.748G>A (p.Glu250Lys) c.-84G>A (n.-84G>A) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.51914519G>C | CA384900119 | ACVRL1 | c.436G>C (p.Glu146Gln) c.706G>C (p.Glu236Gln) c.184G>C (p.Glu62Gln) c.748G>C (p.Glu250Gln) c.-84G>C (n.-84G>C) | |
| 12 | g.51914519G= | CA2036269097 | ACVRL1 | c.436G= (p.Glu146=) c.706G= (p.Glu236=) c.184G= (p.Glu62=) c.748G= (p.Glu250=) c.-84G= (n.-84G=) | |
| 12 | g.51914519G>T | CA384900120 | ACVRL1 | c.436G>T (p.Glu146Ter) c.706G>T (p.Glu236Ter) c.184G>T (p.Glu62Ter) c.748G>T (p.Glu250Ter) c.-84G>T (n.-84G>T) | |
| 12 | g.51914520A>C | CA384900121 | ACVRL1 | c.437A>C (p.Glu146Ala) c.707A>C (p.Glu236Ala) c.185A>C (p.Glu62Ala) c.749A>C (p.Glu250Ala) c.-83A>C (n.-83A>C) | |
| 12 | g.51914520A>G | CA384900122 | ACVRL1 | c.437A>G (p.Glu146Gly) c.707A>G (p.Glu236Gly) c.185A>G (p.Glu62Gly) c.749A>G (p.Glu250Gly) c.-83A>G (n.-83A>G) | |
| 12 | g.51914520A>T | CA384900123 | ACVRL1 | c.437A>T (p.Glu146Val) c.707A>T (p.Glu236Val) c.185A>T (p.Glu62Val) c.749A>T (p.Glu250Val) c.-83A>T (n.-83A>T) | |
| 12 | g.51914521A>C | CA384900124 | ACVRL1 | c.438A>C (p.Glu146Asp) c.708A>C (p.Glu236Asp) c.186A>C (p.Glu62Asp) c.750A>C (p.Glu250Asp) c.-82A>C (n.-82A>C) | |
| 12 | g.51914521A>G | CA479807970 | ACVRL1 | c.438A>G (p.Glu146=) c.708A>G (p.Glu236=) c.186A>G (p.Glu62=) c.750A>G (p.Glu250=) c.-82A>G (n.-82A>G) | |
| 12 | g.51914521A>T | CA384900125 | ACVRL1 | c.438A>T (p.Glu146Asp) c.708A>T (p.Glu236Asp) c.186A>T (p.Glu62Asp) c.750A>T (p.Glu250Asp) c.-82A>T (n.-82A>T) | |
| 12 | g.51914522C>A | CA384900126 | ACVRL1 | c.439C>A (p.Gln147Lys) c.709C>A (p.Gln237Lys) c.187C>A (p.Gln63Lys) c.751C>A (p.Gln251Lys) c.-81C>A (n.-81C>A) | |
| 12 | g.51914522C>G | CA384900127 | ACVRL1 | c.439C>G (p.Gln147Glu) c.709C>G (p.Gln237Glu) c.187C>G (p.Gln63Glu) c.751C>G (p.Gln251Glu) c.-81C>G (n.-81C>G) | |
| 12 | g.51914522C>T | CA384900128 | ACVRL1 | c.439C>T (p.Gln147Ter) c.709C>T (p.Gln237Ter) c.187C>T (p.Gln63Ter) c.751C>T (p.Gln251Ter) c.-81C>T (n.-81C>T) | |
| 12 | g.51914523A>C | CA384900129 | ACVRL1 | c.440A>C (p.Gln147Pro) c.710A>C (p.Gln237Pro) c.188A>C (p.Gln63Pro) c.752A>C (p.Gln251Pro) c.-80A>C (n.-80A>C) | gnomAD v4 |
| 12 | g.51914523A>G | CA384900130 | ACVRL1 | c.440A>G (p.Gln147Arg) c.710A>G (p.Gln237Arg) c.188A>G (p.Gln63Arg) c.752A>G (p.Gln251Arg) c.-80A>G (n.-80A>G) | |
| 12 | g.51914523A>T | CA384900131 | ACVRL1 | c.440A>T (p.Gln147Leu) c.710A>T (p.Gln237Leu) c.188A>T (p.Gln63Leu) c.752A>T (p.Gln251Leu) c.-80A>T (n.-80A>T) | |
| 12 | g.51914523_51914526delinsAGTC | CA2036269103 | ACVRL1 | c.440_443delinsAGTC (p.Gln147=) c.710_713delinsAGTC (p.Gln237=) c.188_191delinsAGTC (p.Gln63=) c.752_755delinsAGTC (p.Gln251=) c.-80_-77delinsAGTC (n.-80_-77delinsAGTC) | |
| 12 | g.51914524G>A | CA479807982 | ACVRL1 | c.441G>A (p.Gln147=) c.711G>A (p.Gln237=) c.189G>A (p.Gln63=) c.753G>A (p.Gln251=) c.-79G>A (n.-79G>A) | |
| 12 | g.51914524G>C | CA6572974 | ACVRL1 | c.441G>C (p.Gln147His) c.711G>C (p.Gln237His) c.189G>C (p.Gln63His) c.753G>C (p.Gln251His) c.-79G>C (n.-79G>C) | dbSNP ExAC gnomAD v2 |
| 12 | g.51914524G= | CA2036269104 | ACVRL1 | c.441G= (p.Gln147=) c.711G= (p.Gln237=) c.189G= (p.Gln63=) c.753G= (p.Gln251=) c.-79G= (n.-79G=) | |
| 12 | g.51914524G>T | CA384900132 | ACVRL1 | c.441G>T (p.Gln147His) c.711G>T (p.Gln237His) c.189G>T (p.Gln63His) c.753G>T (p.Gln251His) c.-79G>T (n.-79G>T) | |
| 12 | g.51914524_51914526delinsAG | CA658656305 | ACVRL1 | c.441_443delinsAG (p.Ser148AlafsTer20) c.711_713delinsAG (p.Ser238AlafsTer20) c.189_191delinsAG (p.Ser64AlafsTer20) c.441_443delinsAG (p.Ser148AlafsTer?) c.753_755delinsAG (p.Ser252AlafsTer20) c.-79_-77delinsAG (n.-79_-77delinsAG) | ClinVar dbSNP |
| 12 | g.51914525T>A | CA384900133 | ACVRL1 | c.442T>A (p.Ser148Thr) c.712T>A (p.Ser238Thr) c.190T>A (p.Ser64Thr) c.754T>A (p.Ser252Thr) c.-78T>A (n.-78T>A) | |
| 12 | g.51914525T>C | CA384900134 | ACVRL1 | c.442T>C (p.Ser148Pro) c.712T>C (p.Ser238Pro) c.190T>C (p.Ser64Pro) c.754T>C (p.Ser252Pro) c.-78T>C (n.-78T>C) | |
| 12 | g.51914525T>G | CA384900135 | ACVRL1 | c.442T>G (p.Ser148Ala) c.712T>G (p.Ser238Ala) c.190T>G (p.Ser64Ala) c.754T>G (p.Ser252Ala) c.-78T>G (n.-78T>G) | |
| 12 | g.51914525_51914526delinsTC | CA2036269105 | ACVRL1 | c.442_443delinsTC (p.Ser148=) c.712_713delinsTC (p.Ser238=) c.190_191delinsTC (p.Ser64=) c.754_755delinsTC (p.Ser252=) c.-78_-77delinsTC (n.-78_-77delinsTC) | |
| 12 | g.51914526C>A | CA384900137 | ACVRL1 | c.443C>A (p.Ser148Tyr) c.713C>A (p.Ser238Tyr) c.191C>A (p.Ser64Tyr) c.755C>A (p.Ser252Tyr) c.-77C>A (n.-77C>A) | |
| 12 | g.51914526C= | CA2036269106 | ACVRL1 | c.443C= (p.Ser148=) c.713C= (p.Ser238=) c.191C= (p.Ser64=) c.755C= (p.Ser252=) c.-77C= (n.-77C=) | |
| 12 | g.51914526C>G | CA384900136 | ACVRL1 | c.443C>G (p.Ser148Cys) c.713C>G (p.Ser238Cys) c.191C>G (p.Ser64Cys) c.755C>G (p.Ser252Cys) c.-77C>G (n.-77C>G) | |
| 12 | g.51914526C>T | CA6572975 | ACVRL1 | c.443C>T (p.Ser148Phe) c.713C>T (p.Ser238Phe) c.191C>T (p.Ser64Phe) c.755C>T (p.Ser252Phe) c.-77C>T (n.-77C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51914527del | CA916081668 | ACVRL1 | c.444del (p.Trp149GlyfsTer19) c.714del (p.Trp239GlyfsTer19) c.192del (p.Trp65GlyfsTer19) c.444del (p.Trp149GlyfsTer?) c.756del (p.Trp253GlyfsTer19) c.-76del (n.-76del) | ClinVar dbSNP |
| 12 | g.51914527C>A | CA479807997 | ACVRL1 | c.444C>A (p.Ser148=) c.714C>A (p.Ser238=) c.192C>A (p.Ser64=) c.756C>A (p.Ser252=) c.-76C>A (n.-76C>A) | |
| 12 | g.51914527C>G | CA479808001 | ACVRL1 | c.444C>G (p.Ser148=) c.714C>G (p.Ser238=) c.192C>G (p.Ser64=) c.756C>G (p.Ser252=) c.-76C>G (n.-76C>G) | |
| 12 | g.51914527C>T | CA479807999 | ACVRL1 | c.444C>T (p.Ser148=) c.714C>T (p.Ser238=) c.192C>T (p.Ser64=) c.756C>T (p.Ser252=) c.-76C>T (n.-76C>T) | |
| 12 | g.51914528T>A | CA384900138 | ACVRL1 | c.445T>A (p.Trp149Arg) c.715T>A (p.Trp239Arg) c.193T>A (p.Trp65Arg) c.757T>A (p.Trp253Arg) c.-75T>A (n.-75T>A) | |
| 12 | g.51914528T>C | CA384900139 | ACVRL1 | c.445T>C (p.Trp149Arg) c.715T>C (p.Trp239Arg) c.193T>C (p.Trp65Arg) c.757T>C (p.Trp253Arg) c.-75T>C (n.-75T>C) | |
| 12 | g.51914528T>G | CA384900140 | ACVRL1 | c.445T>G (p.Trp149Gly) c.715T>G (p.Trp239Gly) c.193T>G (p.Trp65Gly) c.757T>G (p.Trp253Gly) c.-75T>G (n.-75T>G) | |
| 12 | g.51914529G>A | CA384900141 | ACVRL1 | c.446G>A (p.Trp149Ter) c.716G>A (p.Trp239Ter) c.194G>A (p.Trp65Ter) c.758G>A (p.Trp253Ter) c.-74G>A (n.-74G>A) | ClinVar |
| 12 | g.51914529G>C | CA384900142 | ACVRL1 | c.446G>C (p.Trp149Ser) c.716G>C (p.Trp239Ser) c.194G>C (p.Trp65Ser) c.758G>C (p.Trp253Ser) c.-74G>C (n.-74G>C) | |
| 12 | g.51914529G>T | CA384900143 | ACVRL1 | c.446G>T (p.Trp149Leu) c.716G>T (p.Trp239Leu) c.194G>T (p.Trp65Leu) c.758G>T (p.Trp253Leu) c.-74G>T (n.-74G>T) | |
| 12 | g.51914530G>A | CA384900144 | ACVRL1 | c.447G>A (p.Trp149Ter) c.717G>A (p.Trp239Ter) c.195G>A (p.Trp65Ter) c.759G>A (p.Trp253Ter) c.-73G>A (n.-73G>A) | ClinVar |
| 12 | g.51914530G>C | CA384900145 | ACVRL1 | c.447G>C (p.Trp149Cys) c.717G>C (p.Trp239Cys) c.195G>C (p.Trp65Cys) c.759G>C (p.Trp253Cys) c.-73G>C (n.-73G>C) | |
| 12 | g.51914530G>T | CA384900146 | ACVRL1 | c.447G>T (p.Trp149Cys) c.717G>T (p.Trp239Cys) c.195G>T (p.Trp65Cys) c.759G>T (p.Trp253Cys) c.-73G>T (n.-73G>T) | |
| 12 | g.51914531T>A | CA384900147 | ACVRL1 | c.448T>A (p.Phe150Ile) c.718T>A (p.Phe240Ile) c.196T>A (p.Phe66Ile) c.760T>A (p.Phe254Ile) c.-72T>A (n.-72T>A) | |
| 12 | g.51914531T>C | CA384900148 | ACVRL1 | c.448T>C (p.Phe150Leu) c.718T>C (p.Phe240Leu) c.196T>C (p.Phe66Leu) c.760T>C (p.Phe254Leu) c.-72T>C (n.-72T>C) | |
| 12 | g.51914531T>G | CA384900149 | ACVRL1 | c.448T>G (p.Phe150Val) c.718T>G (p.Phe240Val) c.196T>G (p.Phe66Val) c.760T>G (p.Phe254Val) c.-72T>G (n.-72T>G) | |
| 12 | g.51914532T>A | CA384900152 | ACVRL1 | c.449T>A (p.Phe150Tyr) c.719T>A (p.Phe240Tyr) c.197T>A (p.Phe66Tyr) c.761T>A (p.Phe254Tyr) c.-71T>A (n.-71T>A) | |
| 12 | g.51914532T>C | CA384900151 | ACVRL1 | c.449T>C (p.Phe150Ser) c.719T>C (p.Phe240Ser) c.197T>C (p.Phe66Ser) c.761T>C (p.Phe254Ser) c.-71T>C (n.-71T>C) | |
| 12 | g.51914532T>G | CA384900150 | ACVRL1 | c.449T>G (p.Phe150Cys) c.719T>G (p.Phe240Cys) c.197T>G (p.Phe66Cys) c.761T>G (p.Phe254Cys) c.-71T>G (n.-71T>G) | |
| 12 | g.51914533C>A | CA384900153 | ACVRL1 | c.450C>A (p.Phe150Leu) c.720C>A (p.Phe240Leu) c.198C>A (p.Phe66Leu) c.762C>A (p.Phe254Leu) c.-70C>A (n.-70C>A) | |
| 12 | g.51914533C= | CA2036269107 | ACVRL1 | c.450C= (p.Phe150=) c.720C= (p.Phe240=) c.198C= (p.Phe66=) c.762C= (p.Phe254=) c.-70C= (n.-70C=) | |
| 12 | g.51914533C>G | CA384900154 | ACVRL1 | c.450C>G (p.Phe150Leu) c.720C>G (p.Phe240Leu) c.198C>G (p.Phe66Leu) c.762C>G (p.Phe254Leu) c.-70C>G (n.-70C>G) | |
| 12 | g.51914533C>T | CA479808023 | ACVRL1 | c.450C>T (p.Phe150=) c.720C>T (p.Phe240=) c.198C>T (p.Phe66=) c.762C>T (p.Phe254=) c.-70C>T (n.-70C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914534C>A | CA479808024 | ACVRL1 | c.451C>A (p.Arg151=) c.721C>A (p.Arg241=) c.199C>A (p.Arg67=) c.763C>A (p.Arg255=) c.-69C>A (n.-69C>A) | |
| 12 | g.51914534C= | CA2036269108 | ACVRL1 | c.451C= (p.Arg151=) c.721C= (p.Arg241=) c.199C= (p.Arg67=) c.763C= (p.Arg255=) c.-69C= (n.-69C=) | |
| 12 | g.51914534C>G | CA384900155 | ACVRL1 | c.451C>G (p.Arg151Gly) c.721C>G (p.Arg241Gly) c.199C>G (p.Arg67Gly) c.763C>G (p.Arg255Gly) c.-69C>G (n.-69C>G) | |
| 12 | g.51914534C>T | CA6572976 | ACVRL1 | c.451C>T (p.Arg151Trp) c.721C>T (p.Arg241Trp) c.199C>T (p.Arg67Trp) c.763C>T (p.Arg255Trp) c.-69C>T (n.-69C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.51914535G>A | CA6572977 | ACVRL1 | c.452G>A (p.Arg151Gln) c.722G>A (p.Arg241Gln) c.200G>A (p.Arg67Gln) c.764G>A (p.Arg255Gln) c.-68G>A (n.-68G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914535G>C | CA384900156 | ACVRL1 | c.452G>C (p.Arg151Pro) c.722G>C (p.Arg241Pro) c.200G>C (p.Arg67Pro) c.764G>C (p.Arg255Pro) c.-68G>C (n.-68G>C) | |
| 12 | g.51914535G= | CA2036269109 | ACVRL1 | c.452G= (p.Arg151=) c.722G= (p.Arg241=) c.200G= (p.Arg67=) c.764G= (p.Arg255=) c.-68G= (n.-68G=) | |
| 12 | g.51914535G>T | CA384900157 | ACVRL1 | c.452G>T (p.Arg151Leu) c.722G>T (p.Arg241Leu) c.200G>T (p.Arg67Leu) c.764G>T (p.Arg255Leu) c.-68G>T (n.-68G>T) | gnomAD v4 |
| 12 | g.51914536G>A | CA479808030 | ACVRL1 | c.453G>A (p.Arg151=) c.723G>A (p.Arg241=) c.201G>A (p.Arg67=) c.765G>A (p.Arg255=) c.-67G>A (n.-67G>A) | |
| 12 | g.51914536G>C | CA479808031 | ACVRL1 | c.453G>C (p.Arg151=) c.723G>C (p.Arg241=) c.201G>C (p.Arg67=) c.765G>C (p.Arg255=) c.-67G>C (n.-67G>C) | |
| 12 | g.51914536G= | CA2036269110 | ACVRL1 | c.453G= (p.Arg151=) c.723G= (p.Arg241=) c.201G= (p.Arg67=) c.765G= (p.Arg255=) c.-67G= (n.-67G=) | |
| 12 | g.51914536G>T | CA479808033 | ACVRL1 | c.453G>T (p.Arg151=) c.723G>T (p.Arg241=) c.201G>T (p.Arg67=) c.765G>T (p.Arg255=) c.-67G>T (n.-67G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914537G>A | CA384900158 | ACVRL1 | c.454G>A (p.Glu152Lys) c.724G>A (p.Glu242Lys) c.202G>A (p.Glu68Lys) c.766G>A (p.Glu256Lys) c.-66G>A (n.-66G>A) | COSMIC COSMIC |
| 12 | g.51914537G>C | CA384900159 | ACVRL1 | c.454G>C (p.Glu152Gln) c.724G>C (p.Glu242Gln) c.202G>C (p.Glu68Gln) c.766G>C (p.Glu256Gln) c.-66G>C (n.-66G>C) | gnomAD v4 |
| 12 | g.51914537G= | CA2036269111 | ACVRL1 | c.454G= (p.Glu152=) c.724G= (p.Glu242=) c.202G= (p.Glu68=) c.766G= (p.Glu256=) c.-66G= (n.-66G=) | |
| 12 | g.51914537G>T | CA384900160 | ACVRL1 | c.454G>T (p.Glu152Ter) c.724G>T (p.Glu242Ter) c.202G>T (p.Glu68Ter) c.766G>T (p.Glu256Ter) c.-66G>T (n.-66G>T) | ClinVar dbSNP |
| 12 | g.51914538A>C | CA384900161 | ACVRL1 | c.455A>C (p.Glu152Ala) c.725A>C (p.Glu242Ala) c.203A>C (p.Glu68Ala) c.767A>C (p.Glu256Ala) c.-65A>C (n.-65A>C) | |
| 12 | g.51914538A>G | CA384900162 | ACVRL1 | c.455A>G (p.Glu152Gly) c.725A>G (p.Glu242Gly) c.203A>G (p.Glu68Gly) c.767A>G (p.Glu256Gly) c.-65A>G (n.-65A>G) | |
| 12 | g.51914538A>T | CA384900163 | ACVRL1 | c.455A>T (p.Glu152Val) c.725A>T (p.Glu242Val) c.203A>T (p.Glu68Val) c.767A>T (p.Glu256Val) c.-65A>T (n.-65A>T) | |
| 12 | g.51914539del | CA2580086472 | ACVRL1 | c.456del (p.Thr153LeufsTer15) c.726del (p.Thr243LeufsTer15) c.204del (p.Thr69LeufsTer15) c.456del (p.Thr153LeufsTer?) c.768del (p.Thr257LeufsTer15) c.-64del (n.-64del) | ClinVar |
| 12 | g.51914539G>A | CA479808048 | ACVRL1 | c.456G>A (p.Glu152=) c.726G>A (p.Glu242=) c.204G>A (p.Glu68=) c.768G>A (p.Glu256=) c.-64G>A (n.-64G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914539G>C | CA384900164 | ACVRL1 | c.456G>C (p.Glu152Asp) c.726G>C (p.Glu242Asp) c.204G>C (p.Glu68Asp) c.768G>C (p.Glu256Asp) c.-64G>C (n.-64G>C) | |
| 12 | g.51914539G= | CA2036269112 | ACVRL1 | c.456G= (p.Glu152=) c.726G= (p.Glu242=) c.204G= (p.Glu68=) c.768G= (p.Glu256=) c.-64G= (n.-64G=) | |
| 12 | g.51914539G>T | CA384900165 | ACVRL1 | c.456G>T (p.Glu152Asp) c.726G>T (p.Glu242Asp) c.204G>T (p.Glu68Asp) c.768G>T (p.Glu256Asp) c.-64G>T (n.-64G>T) | |
| 12 | g.51914540A>C | CA384900166 | ACVRL1 | c.457A>C (p.Thr153Pro) c.727A>C (p.Thr243Pro) c.205A>C (p.Thr69Pro) c.769A>C (p.Thr257Pro) c.-63A>C (n.-63A>C) | |
| 12 | g.51914540A>G | CA384900168 | ACVRL1 | c.457A>G (p.Thr153Ala) c.727A>G (p.Thr243Ala) c.205A>G (p.Thr69Ala) c.769A>G (p.Thr257Ala) c.-63A>G (n.-63A>G) | |
| 12 | g.51914540A>T | CA384900167 | ACVRL1 | c.457A>T (p.Thr153Ser) c.727A>T (p.Thr243Ser) c.205A>T (p.Thr69Ser) c.769A>T (p.Thr257Ser) c.-63A>T (n.-63A>T) | |
| 12 | g.51914541C>A | CA384900169 | ACVRL1 | c.458C>A (p.Thr153Asn) c.728C>A (p.Thr243Asn) c.206C>A (p.Thr69Asn) c.770C>A (p.Thr257Asn) c.-62C>A (n.-62C>A) | |
| 12 | g.51914541C= | CA2036269113 | ACVRL1 | c.458C= (p.Thr153=) c.728C= (p.Thr243=) c.206C= (p.Thr69=) c.770C= (p.Thr257=) c.-62C= (n.-62C=) | |
| 12 | g.51914541C>G | CA384900170 | ACVRL1 | c.458C>G (p.Thr153Ser) c.728C>G (p.Thr243Ser) c.206C>G (p.Thr69Ser) c.770C>G (p.Thr257Ser) c.-62C>G (n.-62C>G) | |
| 12 | g.51914541C>T | CA384900171 | ACVRL1 | c.458C>T (p.Thr153Ile) c.728C>T (p.Thr243Ile) c.206C>T (p.Thr69Ile) c.770C>T (p.Thr257Ile) c.-62C>T (n.-62C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914542T>A | CA479808056 | ACVRL1 | c.459T>A (p.Thr153=) c.729T>A (p.Thr243=) c.207T>A (p.Thr69=) c.771T>A (p.Thr257=) c.-61T>A (n.-61T>A) | |
| 12 | g.51914542T>C | CA479808058 | ACVRL1 | c.459T>C (p.Thr153=) c.729T>C (p.Thr243=) c.207T>C (p.Thr69=) c.771T>C (p.Thr257=) c.-61T>C (n.-61T>C) | gnomAD v4 |
| 12 | g.51914542T>G | CA479808060 | ACVRL1 | c.459T>G (p.Thr153=) c.729T>G (p.Thr243=) c.207T>G (p.Thr69=) c.771T>G (p.Thr257=) c.-61T>G (n.-61T>G) | gnomAD v4 |
| 12 | g.51914543G>A | CA384900172 | ACVRL1 | c.460G>A (p.Glu154Lys) c.730G>A (p.Glu244Lys) c.208G>A (p.Glu70Lys) c.772G>A (p.Glu258Lys) c.-60G>A (n.-60G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914543G>C | CA384900173 | ACVRL1 | c.460G>C (p.Glu154Gln) c.730G>C (p.Glu244Gln) c.208G>C (p.Glu70Gln) c.772G>C (p.Glu258Gln) c.-60G>C (n.-60G>C) | |
| 12 | g.51914543G= | CA2036269114 | ACVRL1 | c.460G= (p.Glu154=) c.730G= (p.Glu244=) c.208G= (p.Glu70=) c.772G= (p.Glu258=) c.-60G= (n.-60G=) | |
| 12 | g.51914543G>T | CA384900174 | ACVRL1 | c.460G>T (p.Glu154Ter) c.730G>T (p.Glu244Ter) c.208G>T (p.Glu70Ter) c.772G>T (p.Glu258Ter) c.-60G>T (n.-60G>T) | |
| 12 | g.51914544A>C | CA384900175 | ACVRL1 | c.461A>C (p.Glu154Ala) c.731A>C (p.Glu244Ala) c.209A>C (p.Glu70Ala) c.773A>C (p.Glu258Ala) c.-59A>C (n.-59A>C) | |
| 12 | g.51914544A>G | CA384900176 | ACVRL1 | c.461A>G (p.Glu154Gly) c.731A>G (p.Glu244Gly) c.209A>G (p.Glu70Gly) c.773A>G (p.Glu258Gly) c.-59A>G (n.-59A>G) | |
| 12 | g.51914544A>T | CA384900177 | ACVRL1 | c.461A>T (p.Glu154Val) c.731A>T (p.Glu244Val) c.209A>T (p.Glu70Val) c.773A>T (p.Glu258Val) c.-59A>T (n.-59A>T) | |
| 12 | g.51914545G>A | CA479808070 | ACVRL1 | c.462G>A (p.Glu154=) c.732G>A (p.Glu244=) c.210G>A (p.Glu70=) c.774G>A (p.Glu258=) c.-58G>A (n.-58G>A) | |
| 12 | g.51914545G>C | CA384900178 | ACVRL1 | c.462G>C (p.Glu154Asp) c.732G>C (p.Glu244Asp) c.210G>C (p.Glu70Asp) c.774G>C (p.Glu258Asp) c.-58G>C (n.-58G>C) | |
| 12 | g.51914545G>T | CA384900179 | ACVRL1 | c.462G>T (p.Glu154Asp) c.732G>T (p.Glu244Asp) c.210G>T (p.Glu70Asp) c.774G>T (p.Glu258Asp) c.-58G>T (n.-58G>T) | |
| 12 | g.51914546A>C | CA384900182 | ACVRL1 | c.463A>C (p.Ile155Leu) c.733A>C (p.Ile245Leu) c.211A>C (p.Ile71Leu) c.775A>C (p.Ile259Leu) c.-57A>C (n.-57A>C) | |
| 12 | g.51914546A>G | CA384900181 | ACVRL1 | c.463A>G (p.Ile155Val) c.733A>G (p.Ile245Val) c.211A>G (p.Ile71Val) c.775A>G (p.Ile259Val) c.-57A>G (n.-57A>G) | |
| 12 | g.51914546A>T | CA384900180 | ACVRL1 | c.463A>T (p.Ile155Phe) c.733A>T (p.Ile245Phe) c.211A>T (p.Ile71Phe) c.775A>T (p.Ile259Phe) c.-57A>T (n.-57A>T) | gnomAD v4 |
| 12 | g.51914547T>A | CA236363439 | ACVRL1 | c.464T>A (p.Ile155Asn) c.734T>A (p.Ile245Asn) c.212T>A (p.Ile71Asn) c.776T>A (p.Ile259Asn) c.-56T>A (n.-56T>A) | dbSNP |
| 12 | g.51914547T>C | CA384900183 | ACVRL1 | c.464T>C (p.Ile155Thr) c.734T>C (p.Ile245Thr) c.212T>C (p.Ile71Thr) c.776T>C (p.Ile259Thr) c.-56T>C (n.-56T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914547T>G | CA384900184 | ACVRL1 | c.464T>G (p.Ile155Ser) c.734T>G (p.Ile245Ser) c.212T>G (p.Ile71Ser) c.776T>G (p.Ile259Ser) c.-56T>G (n.-56T>G) | |
| 12 | g.51914547T= | CA2036269115 | ACVRL1 | c.464T= (p.Ile155=) c.734T= (p.Ile245=) c.212T= (p.Ile71=) c.776T= (p.Ile259=) c.-56T= (n.-56T=) | |
| 12 | g.51914548C>A | CA479808081 | ACVRL1 | c.465C>A (p.Ile155=) c.735C>A (p.Ile245=) c.213C>A (p.Ile71=) c.777C>A (p.Ile259=) c.-55C>A (n.-55C>A) | |
| 12 | g.51914548C>G | CA384900185 | ACVRL1 | c.465C>G (p.Ile155Met) c.735C>G (p.Ile245Met) c.213C>G (p.Ile71Met) c.777C>G (p.Ile259Met) c.-55C>G (n.-55C>G) | |
| 12 | g.51914548C>T | CA479808083 | ACVRL1 | c.465C>T (p.Ile155=) c.735C>T (p.Ile245=) c.213C>T (p.Ile71=) c.777C>T (p.Ile259=) c.-55C>T (n.-55C>T) | |
| 12 | g.51914549T>A | CA384900186 | ACVRL1 | c.466T>A (p.Tyr156Asn) c.736T>A (p.Tyr246Asn) c.214T>A (p.Tyr72Asn) c.778T>A (p.Tyr260Asn) c.-54T>A (n.-54T>A) | |
| 12 | g.51914549T>C | CA384900187 | ACVRL1 | c.466T>C (p.Tyr156His) c.736T>C (p.Tyr246His) c.214T>C (p.Tyr72His) c.778T>C (p.Tyr260His) c.-54T>C (n.-54T>C) | |
| 12 | g.51914549T>G | CA384900188 | ACVRL1 | c.466T>G (p.Tyr156Asp) c.736T>G (p.Tyr246Asp) c.214T>G (p.Tyr72Asp) c.778T>G (p.Tyr260Asp) c.-54T>G (n.-54T>G) | |
| 12 | g.51914550A= | CA2036269116 | ACVRL1 | c.467A= (p.Tyr156=) c.737A= (p.Tyr246=) c.215A= (p.Tyr72=) c.779A= (p.Tyr260=) c.-53A= (n.-53A=) | |
| 12 | g.51914550A>C | CA384900189 | ACVRL1 | c.467A>C (p.Tyr156Ser) c.737A>C (p.Tyr246Ser) c.215A>C (p.Tyr72Ser) c.779A>C (p.Tyr260Ser) c.-53A>C (n.-53A>C) | |
| 12 | g.51914550A>G | CA6572978 | ACVRL1 | c.467A>G (p.Tyr156Cys) c.737A>G (p.Tyr246Cys) c.215A>G (p.Tyr72Cys) c.779A>G (p.Tyr260Cys) c.-53A>G (n.-53A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914550A>T | CA384900190 | ACVRL1 | c.467A>T (p.Tyr156Phe) c.737A>T (p.Tyr246Phe) c.215A>T (p.Tyr72Phe) c.779A>T (p.Tyr260Phe) c.-53A>T (n.-53A>T) | |
| 12 | g.51914551T>A | CA384900191 | ACVRL1 | c.468T>A (p.Tyr156Ter) c.738T>A (p.Tyr246Ter) c.216T>A (p.Tyr72Ter) c.780T>A (p.Tyr260Ter) c.-52T>A (n.-52T>A) | |
| 12 | g.51914551T>C | CA479808093 | ACVRL1 | c.468T>C (p.Tyr156=) c.738T>C (p.Tyr246=) c.216T>C (p.Tyr72=) c.780T>C (p.Tyr260=) c.-52T>C (n.-52T>C) | gnomAD v4 |
| 12 | g.51914551T>G | CA384900192 | ACVRL1 | c.468T>G (p.Tyr156Ter) c.738T>G (p.Tyr246Ter) c.216T>G (p.Tyr72Ter) c.780T>G (p.Tyr260Ter) c.-52T>G (n.-52T>G) | |
| 12 | g.51914552A>C | CA384900195 | ACVRL1 | c.469A>C (p.Asn157His) c.739A>C (p.Asn247His) c.217A>C (p.Asn73His) c.781A>C (p.Asn261His) c.-51A>C (n.-51A>C) | |
| 12 | g.51914552A>G | CA384900194 | ACVRL1 | c.469A>G (p.Asn157Asp) c.739A>G (p.Asn247Asp) c.217A>G (p.Asn73Asp) c.781A>G (p.Asn261Asp) c.-51A>G (n.-51A>G) | gnomAD v4 |
| 12 | g.51914552A>T | CA384900193 | ACVRL1 | c.469A>T (p.Asn157Tyr) c.739A>T (p.Asn247Tyr) c.217A>T (p.Asn73Tyr) c.781A>T (p.Asn261Tyr) c.-51A>T (n.-51A>T) | |
| 12 | g.51914552_51914554delinsAAC | CA2036269117 | ACVRL1 | c.469_471delinsAAC (p.Asn157=) c.739_741delinsAAC (p.Asn247=) c.217_219delinsAAC (p.Asn73=) c.781_783delinsAAC (p.Asn261=) c.-51_-49delinsAAC (n.-51_-49delinsAAC) | |
| 12 | g.51914553A= | CA2036269118 | ACVRL1 | c.470A= (p.Asn157=) c.740A= (p.Asn247=) c.218A= (p.Asn73=) c.782A= (p.Asn261=) c.-50A= (n.-50A=) | |
| 12 | g.51914553A>C | CA384900196 | ACVRL1 | c.470A>C (p.Asn157Thr) c.740A>C (p.Asn247Thr) c.218A>C (p.Asn73Thr) c.782A>C (p.Asn261Thr) c.-50A>C (n.-50A>C) | |
| 12 | g.51914553A>G | CA384900197 | ACVRL1 | c.470A>G (p.Asn157Ser) c.740A>G (p.Asn247Ser) c.218A>G (p.Asn73Ser) c.782A>G (p.Asn261Ser) c.-50A>G (n.-50A>G) | |
| 12 | g.51914553A>T | CA236363457 | ACVRL1 | c.470A>T (p.Asn157Ile) c.740A>T (p.Asn247Ile) c.218A>T (p.Asn73Ile) c.782A>T (p.Asn261Ile) c.-50A>T (n.-50A>T) | dbSNP gnomAD v4 |
| 12 | g.51914556_51914557del | CA645509325 | ACVRL1 | c.473_474del (p.Thr158SerfsTer?) c.743_744del (p.Thr248SerfsTer?) c.221_222del (p.Thr74SerfsTer?) c.785_786del (p.Thr262SerfsTer?) c.-47_-46del (n.-47_-46del) | ClinVar dbSNP |
| 12 | g.51914554C>A | CA384900198 | ACVRL1 | c.471C>A (p.Asn157Lys) c.741C>A (p.Asn247Lys) c.219C>A (p.Asn73Lys) c.783C>A (p.Asn261Lys) c.-49C>A (n.-49C>A) | |
| 12 | g.51914554C= | CA2036269119 | ACVRL1 | c.471C= (p.Asn157=) c.741C= (p.Asn247=) c.219C= (p.Asn73=) c.783C= (p.Asn261=) c.-49C= (n.-49C=) | |
| 12 | g.51914554C>G | CA384900199 | ACVRL1 | c.471C>G (p.Asn157Lys) c.741C>G (p.Asn247Lys) c.219C>G (p.Asn73Lys) c.783C>G (p.Asn261Lys) c.-49C>G (n.-49C>G) | |
| 12 | g.51914554C>T | CA479808100 | ACVRL1 | c.471C>T (p.Asn157=) c.741C>T (p.Asn247=) c.219C>T (p.Asn73=) c.783C>T (p.Asn261=) c.-49C>T (n.-49C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51914555A>C | CA384900202 | ACVRL1 | c.472A>C (p.Thr158Pro) c.742A>C (p.Thr248Pro) c.220A>C (p.Thr74Pro) c.784A>C (p.Thr262Pro) c.-48A>C (n.-48A>C) | |
| 12 | g.51914555A>G | CA384900201 | ACVRL1 | c.472A>G (p.Thr158Ala) c.742A>G (p.Thr248Ala) c.220A>G (p.Thr74Ala) c.784A>G (p.Thr262Ala) c.-48A>G (n.-48A>G) | |
| 12 | g.51914555A>T | CA384900200 | ACVRL1 | c.472A>T (p.Thr158Ser) c.742A>T (p.Thr248Ser) c.220A>T (p.Thr74Ser) c.784A>T (p.Thr262Ser) c.-48A>T (n.-48A>T) | |
| 12 | g.51914556C>A | CA384900203 | ACVRL1 | c.473C>A (p.Thr158Lys) c.743C>A (p.Thr248Lys) c.221C>A (p.Thr74Lys) c.785C>A (p.Thr262Lys) c.-47C>A (n.-47C>A) | |
| 12 | g.51914556C>G | CA384900204 | ACVRL1 | c.473C>G (p.Thr158Arg) c.743C>G (p.Thr248Arg) c.221C>G (p.Thr74Arg) c.785C>G (p.Thr262Arg) c.-47C>G (n.-47C>G) | |
| 12 | g.51914556C>T | CA384900205 | ACVRL1 | c.473C>T (p.Thr158Ile) c.743C>T (p.Thr248Ile) c.221C>T (p.Thr74Ile) c.785C>T (p.Thr262Ile) c.-47C>T (n.-47C>T) | |
| 12 | g.51914557A>C | CA479808107 | ACVRL1 | c.474A>C (p.Thr158=) c.744A>C (p.Thr248=) c.222A>C (p.Thr74=) c.786A>C (p.Thr262=) c.-46A>C (n.-46A>C) | |
| 12 | g.51914557A>G | CA479808109 | ACVRL1 | c.474A>G (p.Thr158=) c.744A>G (p.Thr248=) c.222A>G (p.Thr74=) c.786A>G (p.Thr262=) c.-46A>G (n.-46A>G) | gnomAD v4 |
| 12 | g.51914557A>T | CA479808110 | ACVRL1 | c.474A>T (p.Thr158=) c.744A>T (p.Thr248=) c.222A>T (p.Thr74=) c.786A>T (p.Thr262=) c.-46A>T (n.-46A>T) | |
| 12 | g.51914558G>A | CA384900206 | ACVRL1 | c.475G>A (p.Val159Met) c.745G>A (p.Val249Met) c.223G>A (p.Val75Met) c.787G>A (p.Val263Met) c.-45G>A (n.-45G>A) | |
| 12 | g.51914558G>C | CA384900207 | ACVRL1 | c.475G>C (p.Val159Leu) c.745G>C (p.Val249Leu) c.223G>C (p.Val75Leu) c.787G>C (p.Val263Leu) c.-45G>C (n.-45G>C) | |
| 12 | g.51914558G>T | CA384900208 | ACVRL1 | c.475G>T (p.Val159Leu) c.745G>T (p.Val249Leu) c.223G>T (p.Val75Leu) c.787G>T (p.Val263Leu) c.-45G>T (n.-45G>T) | |
| 12 | g.51914559T>A | CA384900209 | ACVRL1 | c.476T>A (p.Val159Glu) c.746T>A (p.Val249Glu) c.224T>A (p.Val75Glu) c.788T>A (p.Val263Glu) c.-44T>A (n.-44T>A) | |
| 12 | g.51914559T>C | CA384900211 | ACVRL1 | c.476T>C (p.Val159Ala) c.746T>C (p.Val249Ala) c.224T>C (p.Val75Ala) c.788T>C (p.Val263Ala) c.-44T>C (n.-44T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51914559T>G | CA384900210 | ACVRL1 | c.476T>G (p.Val159Gly) c.746T>G (p.Val249Gly) c.224T>G (p.Val75Gly) c.788T>G (p.Val263Gly) c.-44T>G (n.-44T>G) | |
| 12 | g.51914559T= | CA2036269120 | ACVRL1 | c.476T= (p.Val159=) c.746T= (p.Val249=) c.224T= (p.Val75=) c.788T= (p.Val263=) c.-44T= (n.-44T=) | |
| 12 | g.51914560G>A | CA319942 | ACVRL1 | c.477G>A (p.Val159=) c.747G>A (p.Val249=) c.225G>A (p.Val75=) c.789G>A (p.Val263=) c.-43G>A (n.-43G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51914560G>C | CA479808121 | ACVRL1 | c.477G>C (p.Val159=) c.747G>C (p.Val249=) c.225G>C (p.Val75=) c.789G>C (p.Val263=) c.-43G>C (n.-43G>C) | |
| 12 | g.51914560G= | CA2036269121 | ACVRL1 | c.477G= (p.Val159=) c.747G= (p.Val249=) c.225G= (p.Val75=) c.789G= (p.Val263=) c.-43G= (n.-43G=) | |
| 12 | g.51914560G>T | CA479808123 | ACVRL1 | c.477G>T (p.Val159=) c.747G>T (p.Val249=) c.225G>T (p.Val75=) c.789G>T (p.Val263=) c.-43G>T (n.-43G>T) | |
| 12 | g.51914561T>A | CA384900212 | ACVRL1 | c.478T>A (p.Leu160Met) c.748T>A (p.Leu250Met) c.226T>A (p.Leu76Met) c.478T>A c.790T>A (p.Leu264Met) c.-42T>A (n.-42T>A) | |
| 12 | g.51914561T>C | CA236363459 | ACVRL1 | c.478T>C (p.Leu160=) c.748T>C (p.Leu250=) c.226T>C (p.Leu76=) c.478T>C c.790T>C (p.Leu264=) c.-42T>C (n.-42T>C) | dbSNP gnomAD v4 |
| 12 | g.51914561T>G | CA384900213 | ACVRL1 | c.478T>G (p.Leu160Val) c.748T>G (p.Leu250Val) c.226T>G (p.Leu76Val) c.478T>G c.790T>G (p.Leu264Val) c.-42T>G (n.-42T>G) | ClinVar |
| 12 | g.51914561T= | CA2036269122 | ACVRL1 | c.478T= (p.Leu160=) c.748T= (p.Leu250=) c.226T= (p.Leu76=) c.478T= c.790T= (p.Leu264=) c.-42T= (n.-42T=) | |
| 12 | g.51914562T>A | CA384900214 | ACVRL1 | c.479T>A (p.Leu160Ter) c.749T>A (p.Leu250Ter) c.227T>A (p.Leu76Ter) c.791T>A (p.Leu264Ter) c.-41T>A (n.-41T>A) | |
| 12 | g.51914562T>C | CA236363464 | ACVRL1 | c.479T>C (p.Leu160Ser) c.749T>C (p.Leu250Ser) c.227T>C (p.Leu76Ser) c.791T>C (p.Leu264Ser) c.-41T>C (n.-41T>C) | dbSNP |
| 12 | g.51914562T>G | CA384900215 | ACVRL1 | c.479T>G (p.Leu160Trp) c.749T>G (p.Leu250Trp) c.227T>G (p.Leu76Trp) c.791T>G (p.Leu264Trp) c.-41T>G (n.-41T>G) | |
| 12 | g.51914562T= | CA2036269123 | ACVRL1 | c.479T= (p.Leu160=) c.749T= (p.Leu250=) c.227T= (p.Leu76=) c.791T= (p.Leu264=) c.-41T= (n.-41T=) | |
| 12 | g.51914563G>A | CA479808133 | ACVRL1 | c.480G>A (p.Leu160=) c.750G>A (p.Leu250=) c.228G>A (p.Leu76=) c.792G>A (p.Leu264=) c.-40G>A (n.-40G>A) | |
| 12 | g.51914563G>C | CA384900216 | ACVRL1 | c.480G>C (p.Leu160Phe) c.750G>C (p.Leu250Phe) c.228G>C (p.Leu76Phe) c.792G>C (p.Leu264Phe) c.-40G>C (n.-40G>C) | |
| 12 | g.51914563G>T | CA384900217 | ACVRL1 | c.480G>T (p.Leu160Phe) c.750G>T (p.Leu250Phe) c.228G>T (p.Leu76Phe) c.792G>T (p.Leu264Phe) c.-40G>T (n.-40G>T) | |
| 12 | g.51914564C>A | CA384900218 | ACVRL1 | c.481C>A (p.Leu161Ile) c.751C>A (p.Leu251Ile) c.229C>A (p.Leu77Ile) c.793C>A (p.Leu265Ile) c.-39C>A (n.-39C>A) | |
| 12 | g.51914564C>G | CA384900219 | ACVRL1 | c.481C>G (p.Leu161Val) c.751C>G (p.Leu251Val) c.229C>G (p.Leu77Val) c.793C>G (p.Leu265Val) c.-39C>G (n.-39C>G) | |
| 12 | g.51914564C>T | CA384900220 | ACVRL1 | c.481C>T (p.Leu161Phe) c.751C>T (p.Leu251Phe) c.229C>T (p.Leu77Phe) c.793C>T (p.Leu265Phe) c.-39C>T (n.-39C>T) | |
| 12 | g.51914565T>A | CA384900221 | ACVRL1 | c.482T>A (p.Leu161His) c.752T>A (p.Leu251His) c.230T>A (p.Leu77His) c.794T>A (p.Leu265His) c.-38T>A (n.-38T>A) | |
| 12 | g.51914565T>C | CA384900223 | ACVRL1 | c.482T>C (p.Leu161Pro) c.752T>C (p.Leu251Pro) c.230T>C (p.Leu77Pro) c.794T>C (p.Leu265Pro) c.-38T>C (n.-38T>C) | |
| 12 | g.51914565T>G | CA384900222 | ACVRL1 | c.482T>G (p.Leu161Arg) c.752T>G (p.Leu251Arg) c.230T>G (p.Leu77Arg) c.794T>G (p.Leu265Arg) c.-38T>G (n.-38T>G) | |
| 12 | g.51914566C>A | CA479808144 | ACVRL1 | c.483C>A (p.Leu161=) c.753C>A (p.Leu251=) c.231C>A (p.Leu77=) c.795C>A (p.Leu265=) c.-37C>A (n.-37C>A) | gnomAD v4 |
| 12 | g.51914566C>G | CA479808147 | ACVRL1 | c.483C>G (p.Leu161=) c.753C>G (p.Leu251=) c.231C>G (p.Leu77=) c.795C>G (p.Leu265=) c.-37C>G (n.-37C>G) | ClinVar |
| 12 | g.51914566C>T | CA479808148 | ACVRL1 | c.483C>T (p.Leu161=) c.753C>T (p.Leu251=) c.231C>T (p.Leu77=) c.795C>T (p.Leu265=) c.-37C>T (n.-37C>T) |