Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51916149_51916164delinsGACTGCTTTGAGTCCTCA2036237009ACVRL1c.892_907delinsGACTGCTTTGAGTCCT (p.Asp298=)
c.1162_1177delinsGACTGCTTTGAGTCCT (p.Asp388=)
c.640_655delinsGACTGCTTTGAGTCCT (p.Asp214=)
n.437_452delinsGACTGCTTTGAGTCCT
c.1204_1219delinsGACTGCTTTGAGTCCT (p.Asp402=)
c.167_182delinsGACTGCTTTGAGTCCT
c.373_388delinsGACTGCTTTGAGTCCT (p.Asp125=)
12g.51916152_51916166delCA916081672ACVRL1c.895_909del (p.Cys299_Tyr303del)
c.1165_1179del (p.Cys389_Tyr393del)
c.643_657del (p.Cys215_Tyr219del)
n.440_454del
c.1207_1221del (p.Cys403_Tyr407del)
c.170_184del
c.376_390del (p.Cys126_Tyr130del)
 ClinVar dbSNP
12g.51916151C>ACA6573081ACVRL1c.894C>A (p.Asp298Glu)
c.1164C>A (p.Asp388Glu)
c.642C>A (p.Asp214Glu)
n.439C>A
c.1206C>A (p.Asp402Glu)
c.169C>A
c.375C>A (p.Asp125Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916151C=CA2036237019ACVRL1c.894C= (p.Asp298=)
c.1164C= (p.Asp388=)
c.642C= (p.Asp214=)
n.439C=
c.1206C= (p.Asp402=)
c.169C=
c.375C= (p.Asp125=)
12g.51916151C>GCA384902696ACVRL1c.894C>G (p.Asp298Glu)
c.1164C>G (p.Asp388Glu)
c.642C>G (p.Asp214Glu)
n.439C>G
c.1206C>G (p.Asp402Glu)
c.169C>G
c.375C>G (p.Asp125Glu)
12g.51916151C>TCA479811006ACVRL1c.894C>T (p.Asp298=)
c.1164C>T (p.Asp388=)
c.642C>T (p.Asp214=)
n.439C>T
c.1206C>T (p.Asp402=)
c.169C>T
c.375C>T (p.Asp125=)
12g.51916152T>ACA384902697ACVRL1c.895T>A (p.Cys299Ser)
c.1165T>A (p.Cys389Ser)
c.643T>A (p.Cys215Ser)
n.440T>A
c.1207T>A (p.Cys403Ser)
c.170T>A
c.376T>A (p.Cys126Ser)
12g.51916152T>CCA236364959ACVRL1c.895T>C (p.Cys299Arg)
c.1165T>C (p.Cys389Arg)
c.643T>C (p.Cys215Arg)
n.440T>C
c.1207T>C (p.Cys403Arg)
c.170T>C
c.376T>C (p.Cys126Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.51916152T>GCA384902700ACVRL1c.895T>G (p.Cys299Gly)
c.1165T>G (p.Cys389Gly)
c.643T>G (p.Cys215Gly)
n.440T>G
c.1207T>G (p.Cys403Gly)
c.170T>G
c.376T>G (p.Cys126Gly)
 gnomAD v4
12g.51916152T=CA2036237022ACVRL1c.895T= (p.Cys299=)
c.1165T= (p.Cys389=)
c.643T= (p.Cys215=)
n.440T=
c.1207T= (p.Cys403=)
c.170T=
c.376T= (p.Cys126=)
12g.51916153G>ACA384902705ACVRL1c.896G>A (p.Cys299Tyr)
c.1166G>A (p.Cys389Tyr)
c.644G>A (p.Cys215Tyr)
n.441G>A
c.1208G>A (p.Cys403Tyr)
c.171G>A
c.377G>A (p.Cys126Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916153G>CCA384902707ACVRL1c.896G>C (p.Cys299Ser)
c.1166G>C (p.Cys389Ser)
c.644G>C (p.Cys215Ser)
n.441G>C
c.1208G>C (p.Cys403Ser)
c.171G>C
c.377G>C (p.Cys126Ser)
12g.51916153G=CA2036237024ACVRL1c.896G= (p.Cys299=)
c.1166G= (p.Cys389=)
c.644G= (p.Cys215=)
n.441G=
c.1208G= (p.Cys403=)
c.171G=
c.377G= (p.Cys126=)
12g.51916153G>TCA384902709ACVRL1c.896G>T (p.Cys299Phe)
c.1166G>T (p.Cys389Phe)
c.644G>T (p.Cys215Phe)
n.441G>T
c.1208G>T (p.Cys403Phe)
c.171G>T
c.377G>T (p.Cys126Phe)
 dbSNP gnomAD v3 gnomAD v4
12g.51916154C>ACA384902710ACVRL1c.897C>A (p.Cys299Ter)
c.1167C>A (p.Cys389Ter)
c.645C>A (p.Cys215Ter)
n.442C>A
c.1209C>A (p.Cys403Ter)
c.172C>A
c.378C>A (p.Cys126Ter)
 dbSNP
12g.51916154C=CA2036237029ACVRL1c.897C= (p.Cys299=)
c.1167C= (p.Cys389=)
c.645C= (p.Cys215=)
n.442C=
c.1209C= (p.Cys403=)
c.172C=
c.378C= (p.Cys126=)
12g.51916154C>GCA384902711ACVRL1c.897C>G (p.Cys299Trp)
c.1167C>G (p.Cys389Trp)
c.645C>G (p.Cys215Trp)
n.442C>G
c.1209C>G (p.Cys403Trp)
c.172C>G
c.378C>G (p.Cys126Trp)
 dbSNP gnomAD v2 gnomAD v4
12g.51916154C>TCA479811036ACVRL1c.897C>T (p.Cys299=)
c.1167C>T (p.Cys389=)
c.645C>T (p.Cys215=)
n.442C>T
c.1209C>T (p.Cys403=)
c.172C>T
c.378C>T (p.Cys126=)
 COSMIC
12g.51916155T>ACA384902712ACVRL1c.898T>A (p.Phe300Ile)
c.1168T>A (p.Phe390Ile)
c.646T>A (p.Phe216Ile)
n.443T>A
c.1210T>A (p.Phe404Ile)
c.173T>A
c.379T>A (p.Phe127Ile)
12g.51916155T>CCA384902713ACVRL1c.898T>C (p.Phe300Leu)
c.1168T>C (p.Phe390Leu)
c.646T>C (p.Phe216Leu)
n.443T>C
c.1210T>C (p.Phe404Leu)
c.173T>C
c.379T>C (p.Phe127Leu)
12g.51916155T>GCA384902714ACVRL1c.898T>G (p.Phe300Val)
c.1168T>G (p.Phe390Val)
c.646T>G (p.Phe216Val)
n.443T>G
c.1210T>G (p.Phe404Val)
c.173T>G
c.379T>G (p.Phe127Val)
 COSMIC COSMIC
12g.51916156T>ACA384902718ACVRL1c.899T>A (p.Phe300Tyr)
c.1169T>A (p.Phe390Tyr)
c.647T>A (p.Phe216Tyr)
n.444T>A
c.1211T>A (p.Phe404Tyr)
c.174T>A
c.380T>A (p.Phe127Tyr)
12g.51916156T>CCA384902716ACVRL1c.899T>C (p.Phe300Ser)
c.1169T>C (p.Phe390Ser)
c.647T>C (p.Phe216Ser)
n.444T>C
c.1211T>C (p.Phe404Ser)
c.174T>C
c.380T>C (p.Phe127Ser)
12g.51916156T>GCA384902717ACVRL1c.899T>G (p.Phe300Cys)
c.1169T>G (p.Phe390Cys)
c.647T>G (p.Phe216Cys)
n.444T>G
c.1211T>G (p.Phe404Cys)
c.174T>G
c.380T>G (p.Phe127Cys)
12g.51916157T>ACA384902720ACVRL1c.900T>A (p.Phe300Leu)
c.1170T>A (p.Phe390Leu)
c.648T>A (p.Phe216Leu)
n.445T>A
c.1212T>A (p.Phe404Leu)
c.175T>A
c.381T>A (p.Phe127Leu)
12g.51916157T>CCA479811064ACVRL1c.900T>C (p.Phe300=)
c.1170T>C (p.Phe390=)
c.648T>C (p.Phe216=)
n.445T>C
c.1212T>C (p.Phe404=)
c.175T>C
c.381T>C (p.Phe127=)
12g.51916157T>GCA384902721ACVRL1c.900T>G (p.Phe300Leu)
c.1170T>G (p.Phe390Leu)
c.648T>G (p.Phe216Leu)
n.445T>G
c.1212T>G (p.Phe404Leu)
c.175T>G
c.381T>G (p.Phe127Leu)
12g.51916158G>ACA384902723ACVRL1c.901G>A (p.Glu301Lys)
c.1171G>A (p.Glu391Lys)
c.649G>A (p.Glu217Lys)
n.446G>A
c.1213G>A (p.Glu405Lys)
c.176G>A
c.382G>A (p.Glu128Lys)
12g.51916158G>CCA384902725ACVRL1c.901G>C (p.Glu301Gln)
c.1171G>C (p.Glu391Gln)
c.649G>C (p.Glu217Gln)
n.446G>C
c.1213G>C (p.Glu405Gln)
c.176G>C
c.382G>C (p.Glu128Gln)
12g.51916158G=CA2036237034ACVRL1c.901G= (p.Glu301=)
c.1171G= (p.Glu391=)
c.649G= (p.Glu217=)
n.446G=
c.1213G= (p.Glu405=)
c.176G=
c.382G= (p.Glu128=)
12g.51916158G>TCA384902726ACVRL1c.901G>T (p.Glu301Ter)
c.1171G>T (p.Glu391Ter)
c.649G>T (p.Glu217Ter)
n.446G>T
c.1213G>T (p.Glu405Ter)
c.176G>T
c.382G>T (p.Glu128Ter)
 ClinVar dbSNP
12g.51916159A>CCA384902729ACVRL1c.902A>C (p.Glu301Ala)
c.1172A>C (p.Glu391Ala)
c.650A>C (p.Glu217Ala)
n.447A>C
c.1214A>C (p.Glu405Ala)
c.177A>C
c.383A>C (p.Glu128Ala)
12g.51916159A>GCA384902732ACVRL1c.902A>G (p.Glu301Gly)
c.1172A>G (p.Glu391Gly)
c.650A>G (p.Glu217Gly)
n.447A>G
c.1214A>G (p.Glu405Gly)
c.177A>G
c.383A>G (p.Glu128Gly)
 gnomAD v4
12g.51916159A>TCA384902733ACVRL1c.902A>T (p.Glu301Val)
c.1172A>T (p.Glu391Val)
c.650A>T (p.Glu217Val)
n.447A>T
c.1214A>T (p.Glu405Val)
c.177A>T
c.383A>T (p.Glu128Val)
12g.51916160G>ACA6573082ACVRL1c.903G>A (p.Glu301=)
c.1173G>A (p.Glu391=)
c.651G>A (p.Glu217=)
n.448G>A
c.1215G>A (p.Glu405=)
c.178G>A
c.384G>A (p.Glu128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916160G>CCA384902737ACVRL1c.903G>C (p.Glu301Asp)
c.1173G>C (p.Glu391Asp)
c.651G>C (p.Glu217Asp)
n.448G>C
c.1215G>C (p.Glu405Asp)
c.178G>C
c.384G>C (p.Glu128Asp)
12g.51916160G=CA2036237038ACVRL1c.903G= (p.Glu301=)
c.1173G= (p.Glu391=)
c.651G= (p.Glu217=)
n.448G=
c.1215G= (p.Glu405=)
c.178G=
c.384G= (p.Glu128=)
12g.51916160G>TCA384902739ACVRL1c.903G>T (p.Glu301Asp)
c.1173G>T (p.Glu391Asp)
c.651G>T (p.Glu217Asp)
n.448G>T
c.1215G>T (p.Glu405Asp)
c.178G>T
c.384G>T (p.Glu128Asp)
12g.51916161T>ACA384902744ACVRL1c.904T>A (p.Ser302Thr)
c.1174T>A (p.Ser392Thr)
c.652T>A (p.Ser218Thr)
n.449T>A
c.1216T>A (p.Ser406Thr)
c.179T>A
c.385T>A (p.Ser129Thr)
12g.51916161T>CCA384902747ACVRL1c.904T>C (p.Ser302Pro)
c.1174T>C (p.Ser392Pro)
c.652T>C (p.Ser218Pro)
n.449T>C
c.1216T>C (p.Ser406Pro)
c.179T>C
c.385T>C (p.Ser129Pro)
12g.51916161T>GCA384902741ACVRL1c.904T>G (p.Ser302Ala)
c.1174T>G (p.Ser392Ala)
c.652T>G (p.Ser218Ala)
n.449T>G
c.1216T>G (p.Ser406Ala)
c.179T>G
c.385T>G (p.Ser129Ala)
12g.51916162C>ACA384902756ACVRL1c.905C>A (p.Ser302Tyr)
c.1175C>A (p.Ser392Tyr)
c.653C>A (p.Ser218Tyr)
n.450C>A
c.1217C>A (p.Ser406Tyr)
c.180C>A
c.386C>A (p.Ser129Tyr)
12g.51916162C>GCA384902758ACVRL1c.905C>G (p.Ser302Cys)
c.1175C>G (p.Ser392Cys)
c.653C>G (p.Ser218Cys)
n.450C>G
c.1217C>G (p.Ser406Cys)
c.180C>G
c.386C>G (p.Ser129Cys)
12g.51916162C>TCA384902760ACVRL1c.905C>T (p.Ser302Phe)
c.1175C>T (p.Ser392Phe)
c.653C>T (p.Ser218Phe)
n.450C>T
c.1217C>T (p.Ser406Phe)
c.180C>T
c.386C>T (p.Ser129Phe)
12g.51916163C>ACA479811106ACVRL1c.906C>A (p.Ser302=)
c.1176C>A (p.Ser392=)
c.654C>A (p.Ser218=)
n.451C>A
c.1218C>A (p.Ser406=)
c.181C>A
c.387C>A (p.Ser129=)
12g.51916163C>GCA479811112ACVRL1c.906C>G (p.Ser302=)
c.1176C>G (p.Ser392=)
c.654C>G (p.Ser218=)
n.451C>G
c.1218C>G (p.Ser406=)
c.181C>G
c.387C>G (p.Ser129=)
12g.51916163C>TCA479811111ACVRL1c.906C>T (p.Ser302=)
c.1176C>T (p.Ser392=)
c.654C>T (p.Ser218=)
n.451C>T
c.1218C>T (p.Ser406=)
c.181C>T
c.387C>T (p.Ser129=)
 gnomAD v4
12g.51916164T>ACA384902762ACVRL1c.907T>A (p.Tyr303Asn)
c.1177T>A (p.Tyr393Asn)
c.655T>A (p.Tyr219Asn)
n.452T>A
c.1219T>A (p.Tyr407Asn)
c.182T>A
c.388T>A (p.Tyr130Asn)
12g.51916164T>CCA6573083ACVRL1c.907T>C (p.Tyr303His)
c.1177T>C (p.Tyr393His)
c.655T>C (p.Tyr219His)
n.452T>C
c.1219T>C (p.Tyr407His)
c.182T>C
c.388T>C (p.Tyr130His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916164T>GCA384902765ACVRL1c.907T>G (p.Tyr303Asp)
c.1177T>G (p.Tyr393Asp)
c.655T>G (p.Tyr219Asp)
n.452T>G
c.1219T>G (p.Tyr407Asp)
c.182T>G
c.388T>G (p.Tyr130Asp)
12g.51916164T=CA2036237044ACVRL1c.907T= (p.Tyr303=)
c.1177T= (p.Tyr393=)
c.655T= (p.Tyr219=)
n.452T=
c.1219T= (p.Tyr407=)
c.182T=
c.388T= (p.Tyr130=)
12g.51916164_51916166delinsCAACA891843497ACVRL1c.907_909delinsCAA (p.Tyr303Gln)
c.1177_1179delinsCAA (p.Tyr393Gln)
c.655_657delinsCAA (p.Tyr219Gln)
n.452_454delinsCAA
c.1219_1221delinsCAA (p.Tyr407Gln)
c.182_184delinsCAA
c.388_390delinsCAA (p.Tyr130Gln)
 ClinVar dbSNP
12g.51916164_51916166delinsTACCA2036237046ACVRL1c.907_909delinsTAC (p.Tyr303=)
c.1177_1179delinsTAC (p.Tyr393=)
c.655_657delinsTAC (p.Tyr219=)
n.452_454delinsTAC
c.1219_1221delinsTAC (p.Tyr407=)
c.182_184delinsTAC
c.388_390delinsTAC (p.Tyr130=)
12g.51916165A=CA2036237051ACVRL1c.908A= (p.Tyr303=)
c.1178A= (p.Tyr393=)
c.656A= (p.Tyr219=)
n.453A=
c.1220A= (p.Tyr407=)
c.183A=
c.389A= (p.Tyr130=)
12g.51916165A>CCA384902770ACVRL1c.908A>C (p.Tyr303Ser)
c.1178A>C (p.Tyr393Ser)
c.656A>C (p.Tyr219Ser)
n.453A>C
c.1220A>C (p.Tyr407Ser)
c.183A>C
c.389A>C (p.Tyr130Ser)
 dbSNP
12g.51916165A>GCA384902768ACVRL1c.908A>G (p.Tyr303Cys)
c.1178A>G (p.Tyr393Cys)
c.656A>G (p.Tyr219Cys)
n.453A>G
c.1220A>G (p.Tyr407Cys)
c.183A>G
c.389A>G (p.Tyr130Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916165A>TCA384902769ACVRL1c.908A>T (p.Tyr303Phe)
c.1178A>T (p.Tyr393Phe)
c.656A>T (p.Tyr219Phe)
n.453A>T
c.1220A>T (p.Tyr407Phe)
c.183A>T
c.389A>T (p.Tyr130Phe)
12g.51916166C>ACA6573084ACVRL1c.909C>A (p.Tyr303Ter)
c.1179C>A (p.Tyr393Ter)
c.657C>A (p.Tyr219Ter)
n.454C>A
c.1221C>A (p.Tyr407Ter)
c.184C>A
c.390C>A (p.Tyr130Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916166C=CA2036237056ACVRL1c.909C= (p.Tyr303=)
c.1179C= (p.Tyr393=)
c.657C= (p.Tyr219=)
n.454C=
c.1221C= (p.Tyr407=)
c.184C=
c.390C= (p.Tyr130=)
12g.51916166C>GCA384902771ACVRL1c.909C>G (p.Tyr303Ter)
c.1179C>G (p.Tyr393Ter)
c.657C>G (p.Tyr219Ter)
n.454C>G
c.1221C>G (p.Tyr407Ter)
c.184C>G
c.390C>G (p.Tyr130Ter)
12g.51916166C>TCA479811126ACVRL1c.909C>T (p.Tyr303=)
c.1179C>T (p.Tyr393=)
c.657C>T (p.Tyr219=)
n.454C>T
c.1221C>T (p.Tyr407=)
c.184C>T
c.390C>T (p.Tyr130=)
12g.51916167A>CCA384902772ACVRL1c.910A>C (p.Lys304Gln)
c.1180A>C (p.Lys394Gln)
c.658A>C (p.Lys220Gln)
n.455A>C
c.1222A>C (p.Lys408Gln)
c.185A>C
c.391A>C (p.Lys131Gln)
12g.51916167A>GCA384902773ACVRL1c.910A>G (p.Lys304Glu)
c.1180A>G (p.Lys394Glu)
c.658A>G (p.Lys220Glu)
n.455A>G
c.1222A>G (p.Lys408Glu)
c.185A>G
c.391A>G (p.Lys131Glu)
12g.51916167A>TCA384902776ACVRL1c.910A>T (p.Lys304Ter)
c.1180A>T (p.Lys394Ter)
c.658A>T (p.Lys220Ter)
n.455A>T
c.1222A>T (p.Lys408Ter)
c.185A>T
c.391A>T (p.Lys131Ter)
12g.51916168A>CCA384902779ACVRL1c.911A>C (p.Lys304Thr)
c.1181A>C (p.Lys394Thr)
c.659A>C (p.Lys220Thr)
n.456A>C
c.1223A>C (p.Lys408Thr)
c.186A>C
c.392A>C (p.Lys131Thr)
12g.51916168A>GCA384902783ACVRL1c.911A>G (p.Lys304Arg)
c.1181A>G (p.Lys394Arg)
c.659A>G (p.Lys220Arg)
n.456A>G
c.1223A>G (p.Lys408Arg)
c.186A>G
c.392A>G (p.Lys131Arg)
 gnomAD v4
12g.51916168A>TCA384902781ACVRL1c.911A>T (p.Lys304Met)
c.1181A>T (p.Lys394Met)
c.659A>T (p.Lys220Met)
n.456A>T
c.1223A>T (p.Lys408Met)
c.186A>T
c.392A>T (p.Lys131Met)
12g.51916169G>ACA479811147ACVRL1c.912G>A (p.Lys304=)
c.1182G>A (p.Lys394=)
c.660G>A (p.Lys220=)
n.457G>A
c.1224G>A (p.Lys408=)
c.187G>A
c.393G>A (p.Lys131=)
 gnomAD v4
12g.51916169G>CCA384902785ACVRL1c.912G>C (p.Lys304Asn)
c.1182G>C (p.Lys394Asn)
c.660G>C (p.Lys220Asn)
n.457G>C
c.1224G>C (p.Lys408Asn)
c.187G>C
c.393G>C (p.Lys131Asn)
12g.51916169G>TCA384902788ACVRL1c.912G>T (p.Lys304Asn)
c.1182G>T (p.Lys394Asn)
c.660G>T (p.Lys220Asn)
n.457G>T
c.1224G>T (p.Lys408Asn)
c.187G>T
c.393G>T (p.Lys131Asn)
12g.51916170T>ACA384902793ACVRL1c.913T>A (p.Trp305Arg)
c.1183T>A (p.Trp395Arg)
c.661T>A (p.Trp221Arg)
n.458T>A
c.1225T>A (p.Trp409Arg)
c.188T>A
c.394T>A (p.Trp132Arg)
12g.51916170T>CCA384902794ACVRL1c.913T>C (p.Trp305Arg)
c.1183T>C (p.Trp395Arg)
c.661T>C (p.Trp221Arg)
n.458T>C
c.1225T>C (p.Trp409Arg)
c.188T>C
c.394T>C (p.Trp132Arg)
 dbSNP
12g.51916170T>GCA384902796ACVRL1c.913T>G (p.Trp305Gly)
c.1183T>G (p.Trp395Gly)
c.661T>G (p.Trp221Gly)
n.458T>G
c.1225T>G (p.Trp409Gly)
c.188T>G
c.394T>G (p.Trp132Gly)
12g.51916170T=CA2036237059ACVRL1c.913T= (p.Trp305=)
c.1183T= (p.Trp395=)
c.661T= (p.Trp221=)
n.458T=
c.1225T= (p.Trp409=)
c.188T=
c.394T= (p.Trp132=)
12g.51916171G>ACA384902804ACVRL1c.914G>A (p.Trp305Ter)
c.1184G>A (p.Trp395Ter)
c.662G>A (p.Trp221Ter)
n.459G>A
c.1226G>A (p.Trp409Ter)
c.189G>A
c.395G>A (p.Trp132Ter)
12g.51916171G>CCA384902807ACVRL1c.914G>C (p.Trp305Ser)
c.1184G>C (p.Trp395Ser)
c.662G>C (p.Trp221Ser)
n.459G>C
c.1226G>C (p.Trp409Ser)
c.189G>C
c.395G>C (p.Trp132Ser)
12g.51916171G>TCA384902816ACVRL1c.914G>T (p.Trp305Leu)
c.1184G>T (p.Trp395Leu)
c.662G>T (p.Trp221Leu)
n.459G>T
c.1226G>T (p.Trp409Leu)
c.189G>T
c.395G>T (p.Trp132Leu)
12g.51916172G>ACA384902820ACVRL1c.915G>A (p.Trp305Ter)
c.1185G>A (p.Trp395Ter)
c.663G>A (p.Trp221Ter)
n.460G>A
c.1227G>A (p.Trp409Ter)
c.190G>A
c.396G>A (p.Trp132Ter)
12g.51916172G>CCA384902825ACVRL1c.915G>C (p.Trp305Cys)
c.1185G>C (p.Trp395Cys)
c.663G>C (p.Trp221Cys)
n.460G>C
c.1227G>C (p.Trp409Cys)
c.190G>C
c.396G>C (p.Trp132Cys)
12g.51916172G>TCA384902827ACVRL1c.915G>T (p.Trp305Cys)
c.1185G>T (p.Trp395Cys)
c.663G>T (p.Trp221Cys)
n.460G>T
c.1227G>T (p.Trp409Cys)
c.190G>T
c.396G>T (p.Trp132Cys)
12g.51916173A>CCA384902836ACVRL1c.916A>C (p.Thr306Pro)
c.1186A>C (p.Thr396Pro)
c.664A>C (p.Thr222Pro)
n.461A>C
c.1228A>C (p.Thr410Pro)
c.191A>C
c.397A>C (p.Thr133Pro)
12g.51916173A>GCA384902835ACVRL1c.916A>G (p.Thr306Ala)
c.1186A>G (p.Thr396Ala)
c.664A>G (p.Thr222Ala)
n.461A>G
c.1228A>G (p.Thr410Ala)
c.191A>G
c.397A>G (p.Thr133Ala)
 gnomAD v4
12g.51916173A>TCA384902831ACVRL1c.916A>T (p.Thr306Ser)
c.1186A>T (p.Thr396Ser)
c.664A>T (p.Thr222Ser)
n.461A>T
c.1228A>T (p.Thr410Ser)
c.191A>T
c.397A>T (p.Thr133Ser)
12g.51916174C>ACA384902838ACVRL1c.917C>A (p.Thr306Asn)
c.1187C>A (p.Thr396Asn)
c.665C>A (p.Thr222Asn)
n.462C>A
c.1229C>A (p.Thr410Asn)
c.192C>A
c.398C>A (p.Thr133Asn)
12g.51916174C=CA2036237061ACVRL1c.917C= (p.Thr306=)
c.1187C= (p.Thr396=)
c.665C= (p.Thr222=)
n.462C=
c.1229C= (p.Thr410=)
c.192C=
c.398C= (p.Thr133=)
12g.51916174C>GCA384902842ACVRL1c.917C>G (p.Thr306Ser)
c.1187C>G (p.Thr396Ser)
c.665C>G (p.Thr222Ser)
n.462C>G
c.1229C>G (p.Thr410Ser)
c.192C>G
c.398C>G (p.Thr133Ser)
12g.51916174C>TCA6573085ACVRL1c.917C>T (p.Thr306Ile)
c.1187C>T (p.Thr396Ile)
c.665C>T (p.Thr222Ile)
n.462C>T
c.1229C>T (p.Thr410Ile)
c.192C>T
c.398C>T (p.Thr133Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916175T>ACA479811191ACVRL1c.918T>A (p.Thr306=)
c.1188T>A (p.Thr396=)
c.666T>A (p.Thr222=)
n.463T>A
c.1230T>A (p.Thr410=)
c.193T>A
c.399T>A (p.Thr133=)
12g.51916175T>CCA479811194ACVRL1c.918T>C (p.Thr306=)
c.1188T>C (p.Thr396=)
c.666T>C (p.Thr222=)
n.463T>C
c.1230T>C (p.Thr410=)
c.193T>C
c.399T>C (p.Thr133=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51916175T>GCA479811202ACVRL1c.918T>G (p.Thr306=)
c.1188T>G (p.Thr396=)
c.666T>G (p.Thr222=)
n.463T>G
c.1230T>G (p.Thr410=)
c.193T>G
c.399T>G (p.Thr133=)
12g.51916175T=CA2036237065ACVRL1c.918T= (p.Thr306=)
c.1188T= (p.Thr396=)
c.666T= (p.Thr222=)
n.463T=
c.1230T= (p.Thr410=)
c.193T=
c.399T= (p.Thr133=)
12g.51916175_51916176delinsAACA915948526ACVRL1c.918_919delinsAA (p.Asp307Asn)
c.1188_1189delinsAA (p.Asp397Asn)
c.666_667delinsAA (p.Asp223Asn)
n.463_464delinsAA
c.1230_1231delinsAA (p.Asp411Asn)
c.193_194delinsAA
c.399_400delinsAA (p.Asp134Asn)
 ClinVar dbSNP
12g.51916175_51916176delinsTGCA2036237067ACVRL1c.918_919delinsTG (p.Thr306=)
c.1188_1189delinsTG (p.Thr396=)
c.666_667delinsTG (p.Thr222=)
n.463_464delinsTG
c.1230_1231delinsTG (p.Thr410=)
c.193_194delinsTG
c.399_400delinsTG (p.Thr133=)
12g.51916176G>ACA384902844ACVRL1c.919G>A (p.Asp307Asn)
c.1189G>A (p.Asp397Asn)
c.667G>A (p.Asp223Asn)
n.464G>A
c.1231G>A (p.Asp411Asn)
c.194G>A
c.400G>A (p.Asp134Asn)
 ClinVar dbSNP
12g.51916176G>CCA384902853ACVRL1c.919G>C (p.Asp307His)
c.1189G>C (p.Asp397His)
c.667G>C (p.Asp223His)
n.464G>C
c.1231G>C (p.Asp411His)
c.194G>C
c.400G>C (p.Asp134His)
12g.51916176G=CA2036237072ACVRL1c.919G= (p.Asp307=)
c.1189G= (p.Asp397=)
c.667G= (p.Asp223=)
n.464G=
c.1231G= (p.Asp411=)
c.194G=
c.400G= (p.Asp134=)
12g.51916176G>TCA384902851ACVRL1c.919G>T (p.Asp307Tyr)
c.1189G>T (p.Asp397Tyr)
c.667G>T (p.Asp223Tyr)
n.464G>T
c.1231G>T (p.Asp411Tyr)
c.194G>T
c.400G>T (p.Asp134Tyr)
12g.51916177A=CA2036237079ACVRL1c.920A= (p.Asp307=)
c.1190A= (p.Asp397=)
c.668A= (p.Asp223=)
n.465A=
c.1232A= (p.Asp411=)
c.195A=
c.401A= (p.Asp134=)
12g.51916177A>CCA384902855ACVRL1c.920A>C (p.Asp307Ala)
c.1190A>C (p.Asp397Ala)
c.668A>C (p.Asp223Ala)
n.465A>C
c.1232A>C (p.Asp411Ala)
c.195A>C
c.401A>C (p.Asp134Ala)
12g.51916177A>GCA384902858ACVRL1c.920A>G (p.Asp307Gly)
c.1190A>G (p.Asp397Gly)
c.668A>G (p.Asp223Gly)
n.465A>G
c.1232A>G (p.Asp411Gly)
c.195A>G
c.401A>G (p.Asp134Gly)
12g.51916177A>TCA384902866ACVRL1c.920A>T (p.Asp307Val)
c.1190A>T (p.Asp397Val)
c.668A>T (p.Asp223Val)
n.465A>T
c.1232A>T (p.Asp411Val)
c.195A>T
c.401A>T (p.Asp134Val)
 ClinVar dbSNP
12g.51916178C>ACA384902867ACVRL1c.921C>A (p.Asp307Glu)
c.1191C>A (p.Asp397Glu)
c.669C>A (p.Asp223Glu)
n.466C>A
c.1233C>A (p.Asp411Glu)
c.196C>A
c.402C>A (p.Asp134Glu)
12g.51916178C=CA2036237083ACVRL1c.921C= (p.Asp307=)
c.1191C= (p.Asp397=)
c.669C= (p.Asp223=)
n.466C=
c.1233C= (p.Asp411=)
c.196C=
c.402C= (p.Asp134=)
12g.51916178C>GCA384902868ACVRL1c.921C>G (p.Asp307Glu)
c.1191C>G (p.Asp397Glu)
c.669C>G (p.Asp223Glu)
n.466C>G
c.1233C>G (p.Asp411Glu)
c.196C>G
c.402C>G (p.Asp134Glu)
12g.51916178C>TCA479811236ACVRL1c.921C>T (p.Asp307=)
c.1191C>T (p.Asp397=)
c.669C>T (p.Asp223=)
n.466C>T
c.1233C>T (p.Asp411=)
c.196C>T
c.402C>T (p.Asp134=)
 ClinVar dbSNP gnomAD v4
12g.51916179A=CA2036237085ACVRL1c.922A= (p.Ile308=)
c.1192A= (p.Ile398=)
c.670A= (p.Ile224=)
n.467A=
c.1234A= (p.Ile412=)
c.197A=
c.403A= (p.Ile135=)
12g.51916179A>CCA6573086ACVRL1c.922A>C (p.Ile308Leu)
c.1192A>C (p.Ile398Leu)
c.670A>C (p.Ile224Leu)
n.467A>C
c.1234A>C (p.Ile412Leu)
c.197A>C
c.403A>C (p.Ile135Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916179A>GCA6573087ACVRL1c.922A>G (p.Ile308Val)
c.1192A>G (p.Ile398Val)
c.670A>G (p.Ile224Val)
n.467A>G
c.1234A>G (p.Ile412Val)
c.197A>G
c.403A>G (p.Ile135Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916179A>TCA384902870ACVRL1c.922A>T (p.Ile308Phe)
c.1192A>T (p.Ile398Phe)
c.670A>T (p.Ile224Phe)
n.467A>T
c.1234A>T (p.Ile412Phe)
c.197A>T
c.403A>T (p.Ile135Phe)
 ClinVar
12g.51916180T>ACA254377ACVRL1c.923T>A (p.Ile308Asn)
c.1193T>A (p.Ile398Asn)
c.671T>A (p.Ile224Asn)
n.468T>A
c.1235T>A (p.Ile412Asn)
c.198T>A
c.404T>A (p.Ile135Asn)
 ClinVar dbSNP
12g.51916180T>CCA384902873ACVRL1c.923T>C (p.Ile308Thr)
c.1193T>C (p.Ile398Thr)
c.671T>C (p.Ile224Thr)
n.468T>C
c.1235T>C (p.Ile412Thr)
c.198T>C
c.404T>C (p.Ile135Thr)
12g.51916180T>GCA384902875ACVRL1c.923T>G (p.Ile308Ser)
c.1193T>G (p.Ile398Ser)
c.671T>G (p.Ile224Ser)
n.468T>G
c.1235T>G (p.Ile412Ser)
c.198T>G
c.404T>G (p.Ile135Ser)
12g.51916180T=CA2036237090ACVRL1c.923T= (p.Ile308=)
c.1193T= (p.Ile398=)
c.671T= (p.Ile224=)
n.468T=
c.1235T= (p.Ile412=)
c.198T=
c.404T= (p.Ile135=)
12g.51916181C>ACA479811265ACVRL1c.924C>A (p.Ile308=)
c.1194C>A (p.Ile398=)
c.672C>A (p.Ile224=)
n.469C>A
c.1236C>A (p.Ile412=)
c.199C>A
c.405C>A (p.Ile135=)
12g.51916181C>GCA384902877ACVRL1c.924C>G (p.Ile308Met)
c.1194C>G (p.Ile398Met)
c.672C>G (p.Ile224Met)
n.469C>G
c.1236C>G (p.Ile412Met)
c.199C>G
c.405C>G (p.Ile135Met)
12g.51916181C>TCA479811272ACVRL1c.924C>T (p.Ile308=)
c.1194C>T (p.Ile398=)
c.672C>T (p.Ile224=)
n.469C>T
c.1236C>T (p.Ile412=)
c.199C>T
c.405C>T (p.Ile135=)
12g.51916182T>ACA384902879ACVRL1c.925T>A (p.Trp309Arg)
c.1195T>A (p.Trp399Arg)
c.673T>A (p.Trp225Arg)
n.470T>A
c.1237T>A (p.Trp413Arg)
c.200T>A
c.406T>A (p.Trp136Arg)
12g.51916182T>CCA384902882ACVRL1c.925T>C (p.Trp309Arg)
c.1195T>C (p.Trp399Arg)
c.673T>C (p.Trp225Arg)
n.470T>C
c.1237T>C (p.Trp413Arg)
c.200T>C
c.406T>C (p.Trp136Arg)
 ClinVar dbSNP
12g.51916182T>GCA384902880ACVRL1c.925T>G (p.Trp309Gly)
c.1195T>G (p.Trp399Gly)
c.673T>G (p.Trp225Gly)
n.470T>G
c.1237T>G (p.Trp413Gly)
c.200T>G
c.406T>G (p.Trp136Gly)
 ClinVar dbSNP
12g.51916182T=CA2036237096ACVRL1c.925T= (p.Trp309=)
c.1195T= (p.Trp399=)
c.673T= (p.Trp225=)
n.470T=
c.1237T= (p.Trp413=)
c.200T=
c.406T= (p.Trp136=)
12g.51916183G>ACA384902884ACVRL1c.926G>A (p.Trp309Ter)
c.1196G>A (p.Trp399Ter)
c.674G>A (p.Trp225Ter)
n.471G>A
c.1238G>A (p.Trp413Ter)
c.201G>A
c.407G>A (p.Trp136Ter)
 ClinVar dbSNP
12g.51916183G>CCA119410ACVRL1c.926G>C (p.Trp309Ser)
c.1196G>C (p.Trp399Ser)
c.674G>C (p.Trp225Ser)
n.471G>C
c.1238G>C (p.Trp413Ser)
c.201G>C
c.407G>C (p.Trp136Ser)
 ClinVar dbSNP
12g.51916183G=CA2036237105ACVRL1c.926G= (p.Trp309=)
c.1196G= (p.Trp399=)
c.674G= (p.Trp225=)
n.471G=
c.1238G= (p.Trp413=)
c.201G=
c.407G= (p.Trp136=)
12g.51916183G>TCA384902886ACVRL1c.926G>T (p.Trp309Leu)
c.1196G>T (p.Trp399Leu)
c.674G>T (p.Trp225Leu)
n.471G>T
c.1238G>T (p.Trp413Leu)
c.201G>T
c.407G>T (p.Trp136Leu)
 ClinVar dbSNP
12g.51916185delCA2580086500ACVRL1c.928del (p.Ala310ProfsTer15)
c.1198del (p.Ala400ProfsTer15)
c.676del (p.Ala226ProfsTer15)
n.473del
c.1240del (p.Ala414ProfsTer15)
c.203del
c.409del (p.Ala137ProfsTer15)
 ClinVar
12g.51916184G>ACA384902889ACVRL1c.927G>A (p.Trp309Ter)
c.1197G>A (p.Trp399Ter)
c.675G>A (p.Trp225Ter)
n.472G>A
c.1239G>A (p.Trp413Ter)
c.202G>A
c.408G>A (p.Trp136Ter)
 ClinVar dbSNP
12g.51916184G>CCA384902894ACVRL1c.927G>C (p.Trp309Cys)
c.1197G>C (p.Trp399Cys)
c.675G>C (p.Trp225Cys)
n.472G>C
c.1239G>C (p.Trp413Cys)
c.202G>C
c.408G>C (p.Trp136Cys)
12g.51916184G=CA2036237110ACVRL1c.927G= (p.Trp309=)
c.1197G= (p.Trp399=)
c.675G= (p.Trp225=)
n.472G=
c.1239G= (p.Trp413=)
c.202G=
c.408G= (p.Trp136=)
12g.51916184G>TCA384902896ACVRL1c.927G>T (p.Trp309Cys)
c.1197G>T (p.Trp399Cys)
c.675G>T (p.Trp225Cys)
n.472G>T
c.1239G>T (p.Trp413Cys)
c.202G>T
c.408G>T (p.Trp136Cys)
12g.51916185G>ACA384902898ACVRL1c.928G>A (p.Ala310Thr)
c.1198G>A (p.Ala400Thr)
c.676G>A (p.Ala226Thr)
n.473G>A
c.1240G>A (p.Ala414Thr)
c.203G>A
c.409G>A (p.Ala137Thr)
 ClinVar
12g.51916185G>CCA384902900ACVRL1c.928G>C (p.Ala310Pro)
c.1198G>C (p.Ala400Pro)
c.676G>C (p.Ala226Pro)
n.473G>C
c.1240G>C (p.Ala414Pro)
c.203G>C
c.409G>C (p.Ala137Pro)
 ClinVar dbSNP
12g.51916185G>TCA384902902ACVRL1c.928G>T (p.Ala310Ser)
c.1198G>T (p.Ala400Ser)
c.676G>T (p.Ala226Ser)
n.473G>T
c.1240G>T (p.Ala414Ser)
c.203G>T
c.409G>T (p.Ala137Ser)
12g.51916186C>ACA384902908ACVRL1c.929C>A (p.Ala310Asp)
c.1199C>A (p.Ala400Asp)
c.677C>A (p.Ala226Asp)
n.474C>A
c.1241C>A (p.Ala414Asp)
c.204C>A
c.410C>A (p.Ala137Asp)
 ClinVar dbSNP
12g.51916186C>GCA384902906ACVRL1c.929C>G (p.Ala310Gly)
c.1199C>G (p.Ala400Gly)
c.677C>G (p.Ala226Gly)
n.474C>G
c.1241C>G (p.Ala414Gly)
c.204C>G
c.410C>G (p.Ala137Gly)
12g.51916186C>TCA384902904ACVRL1c.929C>T (p.Ala310Val)
c.1199C>T (p.Ala400Val)
c.677C>T (p.Ala226Val)
n.474C>T
c.1241C>T (p.Ala414Val)
c.204C>T
c.410C>T (p.Ala137Val)
 ClinVar
12g.51916187C>ACA479811380ACVRL1c.930C>A (p.Ala310=)
c.1200C>A (p.Ala400=)
c.678C>A (p.Ala226=)
n.475C>A
c.1242C>A (p.Ala414=)
c.205C>A
c.411C>A (p.Ala137=)
12g.51916187C>GCA479811384ACVRL1c.930C>G (p.Ala310=)
c.1200C>G (p.Ala400=)
c.678C>G (p.Ala226=)
n.475C>G
c.1242C>G (p.Ala414=)
c.205C>G
c.411C>G (p.Ala137=)
12g.51916187C>TCA479811387ACVRL1c.930C>T (p.Ala310=)
c.1200C>T (p.Ala400=)
c.678C>T (p.Ala226=)
n.475C>T
c.1242C>T (p.Ala414=)
c.205C>T
c.411C>T (p.Ala137=)
 dbSNP
12g.51916188T>ACA384902909ACVRL1c.931T>A (p.Phe311Ile)
c.1201T>A (p.Phe401Ile)
c.679T>A (p.Phe227Ile)
n.476T>A
c.1243T>A (p.Phe415Ile)
c.206T>A
c.412T>A (p.Phe138Ile)
12g.51916188T>CCA384902910ACVRL1c.931T>C (p.Phe311Leu)
c.1201T>C (p.Phe401Leu)
c.679T>C (p.Phe227Leu)
n.476T>C
c.1243T>C (p.Phe415Leu)
c.206T>C
c.412T>C (p.Phe138Leu)
12g.51916188T>GCA384902911ACVRL1c.931T>G (p.Phe311Val)
c.1201T>G (p.Phe401Val)
c.679T>G (p.Phe227Val)
n.476T>G
c.1243T>G (p.Phe415Val)
c.206T>G
c.412T>G (p.Phe138Val)
12g.51916189T>ACA384902914ACVRL1c.932T>A (p.Phe311Tyr)
c.1202T>A (p.Phe401Tyr)
c.680T>A (p.Phe227Tyr)
n.477T>A
c.1244T>A (p.Phe415Tyr)
c.207T>A
c.413T>A (p.Phe138Tyr)
12g.51916189T>CCA384902915ACVRL1c.932T>C (p.Phe311Ser)
c.1202T>C (p.Phe401Ser)
c.680T>C (p.Phe227Ser)
n.477T>C
c.1244T>C (p.Phe415Ser)
c.207T>C
c.413T>C (p.Phe138Ser)
12g.51916189T>GCA384902917ACVRL1c.932T>G (p.Phe311Cys)
c.1202T>G (p.Phe401Cys)
c.680T>G (p.Phe227Cys)
n.477T>G
c.1244T>G (p.Phe415Cys)
c.207T>G
c.413T>G (p.Phe138Cys)
12g.51916190T>ACA384902919ACVRL1c.933T>A (p.Phe311Leu)
c.1203T>A (p.Phe401Leu)
c.681T>A (p.Phe227Leu)
n.478T>A
c.1245T>A (p.Phe415Leu)
c.208T>A
c.414T>A (p.Phe138Leu)
12g.51916190T>CCA479811437ACVRL1c.933T>C (p.Phe311=)
c.1203T>C (p.Phe401=)
c.681T>C (p.Phe227=)
n.478T>C
c.1245T>C (p.Phe415=)
c.208T>C
c.414T>C (p.Phe138=)
12g.51916190T>GCA384902921ACVRL1c.933T>G (p.Phe311Leu)
c.1203T>G (p.Phe401Leu)
c.681T>G (p.Phe227Leu)
n.478T>G
c.1245T>G (p.Phe415Leu)
c.208T>G
c.414T>G (p.Phe138Leu)
12g.51916191G>ACA384902923ACVRL1c.934G>A (p.Gly312Ser)
c.1204G>A (p.Gly402Ser)
c.682G>A (p.Gly228Ser)
n.479G>A
c.1246G>A (p.Gly416Ser)
c.209G>A
c.415G>A (p.Gly139Ser)
 ClinVar dbSNP
12g.51916191G>CCA384902924ACVRL1c.934G>C (p.Gly312Arg)
c.1204G>C (p.Gly402Arg)
c.682G>C (p.Gly228Arg)
n.479G>C
c.1246G>C (p.Gly416Arg)
c.209G>C
c.415G>C (p.Gly139Arg)
12g.51916191G=CA2036237114ACVRL1c.934G= (p.Gly312=)
c.1204G= (p.Gly402=)
c.682G= (p.Gly228=)
n.479G=
c.1246G= (p.Gly416=)
c.209G=
c.415G= (p.Gly139=)
12g.51916191G>TCA384902925ACVRL1c.934G>T (p.Gly312Cys)
c.1204G>T (p.Gly402Cys)
c.682G>T (p.Gly228Cys)
n.479G>T
c.1246G>T (p.Gly416Cys)
c.209G>T
c.415G>T (p.Gly139Cys)
12g.51916192G>ACA384902931ACVRL1c.935G>A (p.Gly312Asp)
c.1205G>A (p.Gly402Asp)
c.683G>A (p.Gly228Asp)
n.480G>A
c.1247G>A (p.Gly416Asp)
c.210G>A
c.416G>A (p.Gly139Asp)
12g.51916192G>CCA384902929ACVRL1c.935G>C (p.Gly312Ala)
c.1205G>C (p.Gly402Ala)
c.683G>C (p.Gly228Ala)
n.480G>C
c.1247G>C (p.Gly416Ala)
c.210G>C
c.416G>C (p.Gly139Ala)
12g.51916192G>TCA384902927ACVRL1c.935G>T (p.Gly312Val)
c.1205G>T (p.Gly402Val)
c.683G>T (p.Gly228Val)
n.480G>T
c.1247G>T (p.Gly416Val)
c.210G>T
c.416G>T (p.Gly139Val)
12g.51916193C>ACA479811452ACVRL1c.936C>A (p.Gly312=)
c.1206C>A (p.Gly402=)
c.684C>A (p.Gly228=)
n.481C>A
c.1248C>A (p.Gly416=)
c.211C>A
c.417C>A (p.Gly139=)
12g.51916193C>GCA479811455ACVRL1c.936C>G (p.Gly312=)
c.1206C>G (p.Gly402=)
c.684C>G (p.Gly228=)
n.481C>G
c.1248C>G (p.Gly416=)
c.211C>G
c.417C>G (p.Gly139=)
12g.51916193C>TCA479811459ACVRL1c.936C>T (p.Gly312=)
c.1206C>T (p.Gly402=)
c.684C>T (p.Gly228=)
n.481C>T
c.1248C>T (p.Gly416=)
c.211C>T
c.417C>T (p.Gly139=)
12g.51916194C>ACA384902938ACVRL1c.937C>A (p.Leu313Met)
c.1207C>A (p.Leu403Met)
c.685C>A (p.Leu229Met)
n.482C>A
c.1249C>A (p.Leu417Met)
c.212C>A
c.418C>A (p.Leu140Met)
12g.51916194C>GCA384902947ACVRL1c.937C>G (p.Leu313Val)
c.1207C>G (p.Leu403Val)
c.685C>G (p.Leu229Val)
n.482C>G
c.1249C>G (p.Leu417Val)
c.212C>G
c.418C>G (p.Leu140Val)
12g.51916194C>TCA479811466ACVRL1c.937C>T (p.Leu313=)
c.1207C>T (p.Leu403=)
c.685C>T (p.Leu229=)
n.482C>T
c.1249C>T (p.Leu417=)
c.212C>T
c.418C>T (p.Leu140=)
12g.51916195T>ACA384902949ACVRL1c.938T>A (p.Leu313Gln)
c.1208T>A (p.Leu403Gln)
c.686T>A (p.Leu229Gln)
n.483T>A
c.1250T>A (p.Leu417Gln)
c.213T>A
c.419T>A (p.Leu140Gln)
12g.51916195T>CCA384902951ACVRL1c.938T>C (p.Leu313Pro)
c.1208T>C (p.Leu403Pro)
c.686T>C (p.Leu229Pro)
n.483T>C
c.1250T>C (p.Leu417Pro)
c.213T>C
c.419T>C (p.Leu140Pro)
 ClinVar
12g.51916195T>GCA384902952ACVRL1c.938T>G (p.Leu313Arg)
c.1208T>G (p.Leu403Arg)
c.686T>G (p.Leu229Arg)
n.483T>G
c.1250T>G (p.Leu417Arg)
c.213T>G
c.419T>G (p.Leu140Arg)
12g.51916196G>ACA479811484ACVRL1c.939G>A (p.Leu313=)
c.1209G>A (p.Leu403=)
c.687G>A (p.Leu229=)
n.484G>A
c.1251G>A (p.Leu417=)
c.214G>A
c.420G>A (p.Leu140=)
 gnomAD v4
12g.51916196G>CCA479811485ACVRL1c.939G>C (p.Leu313=)
c.1209G>C (p.Leu403=)
c.687G>C (p.Leu229=)
n.484G>C
c.1251G>C (p.Leu417=)
c.214G>C
c.420G>C (p.Leu140=)
12g.51916196G>TCA479811486ACVRL1c.939G>T (p.Leu313=)
c.1209G>T (p.Leu403=)
c.687G>T (p.Leu229=)
n.484G>T
c.1251G>T (p.Leu417=)
c.214G>T
c.420G>T (p.Leu140=)
12g.51916197G>ACA384902954ACVRL1c.940G>A (p.Val314Met)
c.1210G>A (p.Val404Met)
c.688G>A (p.Val230Met)
n.485G>A
c.1252G>A (p.Val418Met)
c.215G>A
c.421G>A (p.Val141Met)
12g.51916197G>CCA384902955ACVRL1c.940G>C (p.Val314Leu)
c.1210G>C (p.Val404Leu)
c.688G>C (p.Val230Leu)
n.485G>C
c.1252G>C (p.Val418Leu)
c.215G>C
c.421G>C (p.Val141Leu)
12g.51916197G>TCA384902956ACVRL1c.940G>T (p.Val314Leu)
c.1210G>T (p.Val404Leu)
c.688G>T (p.Val230Leu)
n.485G>T
c.1252G>T (p.Val418Leu)
c.215G>T
c.421G>T (p.Val141Leu)
12g.51916198T>ACA384902957ACVRL1c.941T>A (p.Val314Glu)
c.1211T>A (p.Val404Glu)
c.689T>A (p.Val230Glu)
n.486T>A
c.1253T>A (p.Val418Glu)
c.216T>A
c.422T>A (p.Val141Glu)
 ClinVar
12g.51916198T>CCA384902958ACVRL1c.941T>C (p.Val314Ala)
c.1211T>C (p.Val404Ala)
c.689T>C (p.Val230Ala)
n.486T>C
c.1253T>C (p.Val418Ala)
c.216T>C
c.422T>C (p.Val141Ala)
12g.51916198T>GCA384902959ACVRL1c.941T>G (p.Val314Gly)
c.1211T>G (p.Val404Gly)
c.689T>G (p.Val230Gly)
n.486T>G
c.1253T>G (p.Val418Gly)
c.216T>G
c.422T>G (p.Val141Gly)
12g.51916199G>ACA479811518ACVRL1c.942G>A (p.Val314=)
c.1212G>A (p.Val404=)
c.690G>A (p.Val230=)
n.487G>A
c.1254G>A (p.Val418=)
c.217G>A
c.423G>A (p.Val141=)
12g.51916199G>CCA479811513ACVRL1c.942G>C (p.Val314=)
c.1212G>C (p.Val404=)
c.690G>C (p.Val230=)
n.487G>C
c.1254G>C (p.Val418=)
c.217G>C
c.423G>C (p.Val141=)
12g.51916199G>TCA479811510ACVRL1c.942G>T (p.Val314=)
c.1212G>T (p.Val404=)
c.690G>T (p.Val230=)
n.487G>T
c.1254G>T (p.Val418=)
c.217G>T
c.423G>T (p.Val141=)
12g.51916200C>ACA384902961ACVRL1c.943C>A (p.Leu315Met)
c.1213C>A (p.Leu405Met)
c.691C>A (p.Leu231Met)
n.488C>A
c.1255C>A (p.Leu419Met)
c.218C>A
c.424C>A (p.Leu142Met)
12g.51916200C>GCA384902962ACVRL1c.943C>G (p.Leu315Val)
c.1213C>G (p.Leu405Val)
c.691C>G (p.Leu231Val)
n.488C>G
c.1255C>G (p.Leu419Val)
c.218C>G
c.424C>G (p.Leu142Val)
12g.51916200C>TCA479811526ACVRL1c.943C>T (p.Leu315=)
c.1213C>T (p.Leu405=)
c.691C>T (p.Leu231=)
n.488C>T
c.1255C>T (p.Leu419=)
c.218C>T
c.424C>T (p.Leu142=)
12g.51916201T>ACA384902966ACVRL1c.944T>A (p.Leu315Gln)
c.1214T>A (p.Leu405Gln)
c.692T>A (p.Leu231Gln)
n.489T>A
c.1256T>A (p.Leu419Gln)
c.219T>A
c.425T>A (p.Leu142Gln)
12g.51916201T>CCA384902972ACVRL1c.944T>C (p.Leu315Pro)
c.1214T>C (p.Leu405Pro)
c.692T>C (p.Leu231Pro)
n.489T>C
c.1256T>C (p.Leu419Pro)
c.219T>C
c.425T>C (p.Leu142Pro)
 ClinVar
12g.51916201T>GCA384902964ACVRL1c.944T>G (p.Leu315Arg)
c.1214T>G (p.Leu405Arg)
c.692T>G (p.Leu231Arg)
n.489T>G
c.1256T>G (p.Leu419Arg)
c.219T>G
c.425T>G (p.Leu142Arg)
12g.51916202delCA2573148784ACVRL1c.945del (p.Trp316GlyfsTer9)
c.1215del (p.Trp406GlyfsTer9)
c.693del (p.Trp232GlyfsTer9)
n.490del
c.1257del (p.Trp420GlyfsTer9)
c.220del
c.426del (p.Trp143GlyfsTer9)
 ClinVar dbSNP
12g.51916202G>ACA6573088ACVRL1c.945G>A (p.Leu315=)
c.1215G>A (p.Leu405=)
c.693G>A (p.Leu231=)
n.490G>A
c.1257G>A (p.Leu419=)
c.220G>A
c.426G>A (p.Leu142=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916202G>CCA479811544ACVRL1c.945G>C (p.Leu315=)
c.1215G>C (p.Leu405=)
c.693G>C (p.Leu231=)
n.490G>C
c.1257G>C (p.Leu419=)
c.220G>C
c.426G>C (p.Leu142=)
12g.51916202G=CA2036237119ACVRL1c.945G= (p.Leu315=)
c.1215G= (p.Leu405=)
c.693G= (p.Leu231=)
n.490G=
c.1257G= (p.Leu419=)
c.220G=
c.426G= (p.Leu142=)
12g.51916202G>TCA479811549ACVRL1c.945G>T (p.Leu315=)
c.1215G>T (p.Leu405=)
c.693G>T (p.Leu231=)
n.490G>T
c.1257G>T (p.Leu419=)
c.220G>T
c.426G>T (p.Leu142=)
 dbSNP
12g.51916203T>ACA384902975ACVRL1c.946T>A (p.Trp316Arg)
c.1216T>A (p.Trp406Arg)
c.694T>A (p.Trp232Arg)
n.491T>A
c.1258T>A (p.Trp420Arg)
c.221T>A
c.427T>A (p.Trp143Arg)
12g.51916203T>CCA384902977ACVRL1c.946T>C (p.Trp316Arg)
c.1216T>C (p.Trp406Arg)
c.694T>C (p.Trp232Arg)
n.491T>C
c.1258T>C (p.Trp420Arg)
c.221T>C
c.427T>C (p.Trp143Arg)
12g.51916203T>GCA384902978ACVRL1c.946T>G (p.Trp316Gly)
c.1216T>G (p.Trp406Gly)
c.694T>G (p.Trp232Gly)
n.491T>G
c.1258T>G (p.Trp420Gly)
c.221T>G
c.427T>G (p.Trp143Gly)
12g.51916204G>ACA16614169ACVRL1c.947G>A (p.Trp316Ter)
c.1217G>A (p.Trp406Ter)
c.695G>A (p.Trp232Ter)
n.492G>A
c.1259G>A (p.Trp420Ter)
c.222G>A
c.428G>A (p.Trp143Ter)
 ClinVar dbSNP
12g.51916204G>CCA384902979ACVRL1c.947G>C (p.Trp316Ser)
c.1217G>C (p.Trp406Ser)
c.695G>C (p.Trp232Ser)
n.492G>C
c.1259G>C (p.Trp420Ser)
c.222G>C
c.428G>C (p.Trp143Ser)
12g.51916204G=CA2036237121ACVRL1c.947G= (p.Trp316=)
c.1217G= (p.Trp406=)
c.695G= (p.Trp232=)
n.492G=
c.1259G= (p.Trp420=)
c.222G=
c.428G= (p.Trp143=)
12g.51916204G>TCA384902980ACVRL1c.947G>T (p.Trp316Leu)
c.1217G>T (p.Trp406Leu)
c.695G>T (p.Trp232Leu)
n.492G>T
c.1259G>T (p.Trp420Leu)
c.222G>T
c.428G>T (p.Trp143Leu)
12g.51916205G>ACA384902982ACVRL1c.948G>A (p.Trp316Ter)
c.1218G>A (p.Trp406Ter)
c.696G>A (p.Trp232Ter)
n.493G>A
c.1260G>A (p.Trp420Ter)
c.223G>A
c.429G>A (p.Trp143Ter)
 COSMIC COSMIC
12g.51916205G>CCA384902987ACVRL1c.948G>C (p.Trp316Cys)
c.1218G>C (p.Trp406Cys)
c.696G>C (p.Trp232Cys)
n.493G>C
c.1260G>C (p.Trp420Cys)
c.223G>C
c.429G>C (p.Trp143Cys)
12g.51916205G>TCA384902988ACVRL1c.948G>T (p.Trp316Cys)
c.1218G>T (p.Trp406Cys)
c.696G>T (p.Trp232Cys)
n.493G>T
c.1260G>T (p.Trp420Cys)
c.223G>T
c.429G>T (p.Trp143Cys)
 ClinVar dbSNP
12g.51916206G>ACA16607366ACVRL1c.949G>A (p.Glu317Lys)
c.1219G>A (p.Glu407Lys)
c.697G>A (p.Glu233Lys)
n.494G>A
c.1261G>A (p.Glu421Lys)
c.224G>A
c.430G>A (p.Glu144Lys)
 ClinVar dbSNP
12g.51916206G>CCA384902989ACVRL1c.949G>C (p.Glu317Gln)
c.1219G>C (p.Glu407Gln)
c.697G>C (p.Glu233Gln)
n.494G>C
c.1261G>C (p.Glu421Gln)
c.224G>C
c.430G>C (p.Glu144Gln)
12g.51916206G=CA2036237123ACVRL1c.949G= (p.Glu317=)
c.1219G= (p.Glu407=)
c.697G= (p.Glu233=)
n.494G=
c.1261G= (p.Glu421=)
c.224G=
c.430G= (p.Glu144=)
12g.51916206G>TCA384902990ACVRL1c.949G>T (p.Glu317Ter)
c.1219G>T (p.Glu407Ter)
c.697G>T (p.Glu233Ter)
n.494G>T
c.1261G>T (p.Glu421Ter)
c.224G>T
c.430G>T (p.Glu144Ter)
12g.51916207A=CA2036237124ACVRL1c.950A= (p.Glu317=)
c.1220A= (p.Glu407=)
c.698A= (p.Glu233=)
n.495A=
c.1262A= (p.Glu421=)
c.225A=
c.431A= (p.Glu144=)
12g.51916207A>CCA384902998ACVRL1c.950A>C (p.Glu317Ala)
c.1220A>C (p.Glu407Ala)
c.698A>C (p.Glu233Ala)
n.495A>C
c.1262A>C (p.Glu421Ala)
c.225A>C
c.431A>C (p.Glu144Ala)
12g.51916207A>GCA384902991ACVRL1c.950A>G (p.Glu317Gly)
c.1220A>G (p.Glu407Gly)
c.698A>G (p.Glu233Gly)
n.495A>G
c.1262A>G (p.Glu421Gly)
c.225A>G
c.431A>G (p.Glu144Gly)
 ClinVar dbSNP
12g.51916207A>TCA384902996ACVRL1c.950A>T (p.Glu317Val)
c.1220A>T (p.Glu407Val)
c.698A>T (p.Glu233Val)
n.495A>T
c.1262A>T (p.Glu421Val)
c.225A>T
c.431A>T (p.Glu144Val)
12g.51916208G>ACA479811624ACVRL1c.951G>A (p.Glu317=)
c.1221G>A (p.Glu407=)
c.699G>A (p.Glu233=)
n.496G>A
c.1263G>A (p.Glu421=)
c.226G>A
c.432G>A (p.Glu144=)
12g.51916208G>CCA384903000ACVRL1c.951G>C (p.Glu317Asp)
c.1221G>C (p.Glu407Asp)
c.699G>C (p.Glu233Asp)
n.496G>C
c.1263G>C (p.Glu421Asp)
c.226G>C
c.432G>C (p.Glu144Asp)
12g.51916208G=CA2036237125ACVRL1c.951G= (p.Glu317=)
c.1221G= (p.Glu407=)
c.699G= (p.Glu233=)
n.496G=
c.1263G= (p.Glu421=)
c.226G=
c.432G= (p.Glu144=)
12g.51916208G>TCA384903002ACVRL1c.951G>T (p.Glu317Asp)
c.1221G>T (p.Glu407Asp)
c.699G>T (p.Glu233Asp)
n.496G>T
c.1263G>T (p.Glu421Asp)
c.226G>T
c.432G>T (p.Glu144Asp)
 ClinVar dbSNP
12g.51916209A>CCA384903004ACVRL1c.952A>C (p.Ile318Leu)
c.1222A>C (p.Ile408Leu)
c.700A>C (p.Ile234Leu)
n.497A>C
c.1264A>C (p.Ile422Leu)
c.227A>C
c.433A>C (p.Ile145Leu)
12g.51916209A>GCA384903006ACVRL1c.952A>G (p.Ile318Val)
c.1222A>G (p.Ile408Val)
c.700A>G (p.Ile234Val)
n.497A>G
c.1264A>G (p.Ile422Val)
c.227A>G
c.433A>G (p.Ile145Val)
12g.51916209A>TCA384903007ACVRL1c.952A>T (p.Ile318Phe)
c.1222A>T (p.Ile408Phe)
c.700A>T (p.Ile234Phe)
n.497A>T
c.1264A>T (p.Ile422Phe)
c.227A>T
c.433A>T (p.Ile145Phe)
12g.51916210T>ACA384903008ACVRL1c.953T>A (p.Ile318Asn)
c.1223T>A (p.Ile408Asn)
c.701T>A (p.Ile234Asn)
n.498T>A
c.1265T>A (p.Ile422Asn)
c.228T>A
c.434T>A (p.Ile145Asn)
12g.51916210T>CCA384903009ACVRL1c.953T>C (p.Ile318Thr)
c.1223T>C (p.Ile408Thr)
c.701T>C (p.Ile234Thr)
n.498T>C
c.1265T>C (p.Ile422Thr)
c.228T>C
c.434T>C (p.Ile145Thr)
 dbSNP gnomAD v2 gnomAD v4
12g.51916210T>GCA384903010ACVRL1c.953T>G (p.Ile318Ser)
c.1223T>G (p.Ile408Ser)
c.701T>G (p.Ile234Ser)
n.498T>G
c.1265T>G (p.Ile422Ser)
c.228T>G
c.434T>G (p.Ile145Ser)
12g.51916210T=CA2036237126ACVRL1c.953T= (p.Ile318=)
c.1223T= (p.Ile408=)
c.701T= (p.Ile234=)
n.498T=
c.1265T= (p.Ile422=)
c.228T=
c.434T= (p.Ile145=)
12g.51916211T>ACA479811663ACVRL1c.954T>A (p.Ile318=)
c.1224T>A (p.Ile408=)
c.702T>A (p.Ile234=)
n.499T>A
c.1266T>A (p.Ile422=)
c.229T>A
c.435T>A (p.Ile145=)
12g.51916211T>CCA479811668ACVRL1c.954T>C (p.Ile318=)
c.1224T>C (p.Ile408=)
c.702T>C (p.Ile234=)
n.499T>C
c.1266T>C (p.Ile422=)
c.229T>C
c.435T>C (p.Ile145=)
12g.51916211T>GCA384903012ACVRL1c.954T>G (p.Ile318Met)
c.1224T>G (p.Ile408Met)
c.702T>G (p.Ile234Met)
n.499T>G
c.1266T>G (p.Ile422Met)
c.229T>G
c.435T>G (p.Ile145Met)
12g.51916212G>ACA384903013ACVRL1c.955G>A (p.Ala319Thr)
c.1225G>A (p.Ala409Thr)
c.703G>A (p.Ala235Thr)
n.500G>A
c.1267G>A (p.Ala423Thr)
c.230G>A
c.436G>A (p.Ala146Thr)
12g.51916212G>CCA384903015ACVRL1c.955G>C (p.Ala319Pro)
c.1225G>C (p.Ala409Pro)
c.703G>C (p.Ala235Pro)
n.500G>C
c.1267G>C (p.Ala423Pro)
c.230G>C
c.436G>C (p.Ala146Pro)
12g.51916212G>TCA384903016ACVRL1c.955G>T (p.Ala319Ser)
c.1225G>T (p.Ala409Ser)
c.703G>T (p.Ala235Ser)
n.500G>T
c.1267G>T (p.Ala423Ser)
c.230G>T
c.436G>T (p.Ala146Ser)
12g.51916213C>ACA384903018ACVRL1c.956C>A (p.Ala319Asp)
c.1226C>A (p.Ala409Asp)
c.704C>A (p.Ala235Asp)
n.501C>A
c.1268C>A (p.Ala423Asp)
c.231C>A
c.437C>A (p.Ala146Asp)
12g.51916213C>GCA384903019ACVRL1c.956C>G (p.Ala319Gly)
c.1226C>G (p.Ala409Gly)
c.704C>G (p.Ala235Gly)
n.501C>G
c.1268C>G (p.Ala423Gly)
c.231C>G
c.437C>G (p.Ala146Gly)
12g.51916213C>TCA384903017ACVRL1c.956C>T (p.Ala319Val)
c.1226C>T (p.Ala409Val)
c.704C>T (p.Ala235Val)
n.501C>T
c.1268C>T (p.Ala423Val)
c.231C>T
c.437C>T (p.Ala146Val)
12g.51916214C>ACA6573089ACVRL1c.957C>A (p.Ala319=)
c.1227C>A (p.Ala409=)
c.705C>A (p.Ala235=)
n.502C>A
c.1269C>A (p.Ala423=)
c.232C>A
c.438C>A (p.Ala146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916214C=CA2036237127ACVRL1c.957C= (p.Ala319=)
c.1227C= (p.Ala409=)
c.705C= (p.Ala235=)
n.502C=
c.1269C= (p.Ala423=)
c.232C=
c.438C= (p.Ala146=)
12g.51916214C>GCA479811698ACVRL1c.957C>G (p.Ala319=)
c.1227C>G (p.Ala409=)
c.705C>G (p.Ala235=)
n.502C>G
c.1269C>G (p.Ala423=)
c.232C>G
c.438C>G (p.Ala146=)
12g.51916214C>TCA479811702ACVRL1c.957C>T (p.Ala319=)
c.1227C>T (p.Ala409=)
c.705C>T (p.Ala235=)
n.502C>T
c.1269C>T (p.Ala423=)
c.232C>T
c.438C>T (p.Ala146=)
12g.51916215C>ACA384903020ACVRL1c.958C>A (p.Arg320Ser)
c.1228C>A (p.Arg410Ser)
c.706C>A (p.Arg236Ser)
n.503C>A
c.1270C>A (p.Arg424Ser)
c.233C>A
c.439C>A (p.Arg147Ser)
12g.51916215C=CA2036237129ACVRL1c.958C= (p.Arg320=)
c.1228C= (p.Arg410=)
c.706C= (p.Arg236=)
n.503C=
c.1270C= (p.Arg424=)
c.233C=
c.439C= (p.Arg147=)
12g.51916215C>GCA384903021ACVRL1c.958C>G (p.Arg320Gly)
c.1228C>G (p.Arg410Gly)
c.706C>G (p.Arg236Gly)
n.503C>G
c.1270C>G (p.Arg424Gly)
c.233C>G
c.439C>G (p.Arg147Gly)
12g.51916215C>TCA6573090ACVRL1c.958C>T (p.Arg320Cys)
c.1228C>T (p.Arg410Cys)
c.706C>T (p.Arg236Cys)
n.503C>T
c.1270C>T (p.Arg424Cys)
c.233C>T
c.439C>T (p.Arg147Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51916216G>ACA6573091ACVRL1c.959G>A (p.Arg320His)
c.1229G>A (p.Arg410His)
c.707G>A (p.Arg236His)
n.504G>A
c.1271G>A (p.Arg424His)
c.234G>A
c.440G>A (p.Arg147His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.51916216G>CCA384903024ACVRL1c.959G>C (p.Arg320Pro)
c.1229G>C (p.Arg410Pro)
c.707G>C (p.Arg236Pro)
n.504G>C
c.1271G>C (p.Arg424Pro)
c.234G>C
c.440G>C (p.Arg147Pro)
12g.51916216G=CA2036237130ACVRL1c.959G= (p.Arg320=)
c.1229G= (p.Arg410=)
c.707G= (p.Arg236=)
n.504G=
c.1271G= (p.Arg424=)
c.234G=
c.440G= (p.Arg147=)
12g.51916216G>TCA384903026ACVRL1c.959G>T (p.Arg320Leu)
c.1229G>T (p.Arg410Leu)
c.707G>T (p.Arg236Leu)
n.504G>T
c.1271G>T (p.Arg424Leu)
c.234G>T
c.440G>T (p.Arg147Leu)
 COSMIC COSMIC
12g.51916217C>ACA479811722ACVRL1c.960C>A (p.Arg320=)
c.1230C>A (p.Arg410=)
c.708C>A (p.Arg236=)
n.505C>A
c.1272C>A (p.Arg424=)
c.235C>A
c.441C>A (p.Arg147=)
12g.51916217C=CA2036237131ACVRL1c.960C= (p.Arg320=)
c.1230C= (p.Arg410=)
c.708C= (p.Arg236=)
n.505C=
c.1272C= (p.Arg424=)
c.235C=
c.441C= (p.Arg147=)
12g.51916217C>GCA479811725ACVRL1c.960C>G (p.Arg320=)
c.1230C>G (p.Arg410=)
c.708C>G (p.Arg236=)
n.505C>G
c.1272C>G (p.Arg424=)
c.235C>G
c.441C>G (p.Arg147=)
12g.51916217C>TCA479811726ACVRL1c.960C>T (p.Arg320=)
c.1230C>T (p.Arg410=)
c.708C>T (p.Arg236=)
n.505C>T
c.1272C>T (p.Arg424=)
c.235C>T
c.441C>T (p.Arg147=)
12g.51916218C>ACA479811732ACVRL1c.961C>A (p.Arg321=)
c.1231C>A (p.Arg411=)
c.709C>A (p.Arg237=)
n.506C>A
c.1273C>A (p.Arg425=)
c.236C>A
c.442C>A (p.Arg148=)
12g.51916218C=CA2036237134ACVRL1c.961C= (p.Arg321=)
c.1231C= (p.Arg411=)
c.709C= (p.Arg237=)
n.506C=
c.1273C= (p.Arg425=)
c.236C=
c.442C= (p.Arg148=)
12g.51916218C>GCA384903028ACVRL1c.961C>G (p.Arg321Gly)
c.1231C>G (p.Arg411Gly)
c.709C>G (p.Arg237Gly)
n.506C>G
c.1273C>G (p.Arg425Gly)
c.236C>G
c.442C>G (p.Arg148Gly)
12g.51916218C>TCA119402ACVRL1c.961C>T (p.Arg321Trp)
c.1231C>T (p.Arg411Trp)
c.709C>T (p.Arg237Trp)
n.506C>T
c.1273C>T (p.Arg425Trp)
c.236C>T
c.442C>T (p.Arg148Trp)
 ClinVar dbSNP gnomAD v4
12g.51916218_51916237dupCA916081673ACVRL1c.961_976+4dup
c.1231_1246+4dup
c.709_724+4dup
n.506_521+4dup
c.1273_1288+4dup
c.236_251+4dup
c.442_457+4dup
 ClinVar dbSNP
12g.51916219G>ACA119395ACVRL1c.962G>A (p.Arg321Gln)
c.1232G>A (p.Arg411Gln)
c.710G>A (p.Arg237Gln)
n.507G>A
c.1274G>A (p.Arg425Gln)
c.237G>A
c.443G>A (p.Arg148Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51916219G>CCA119413ACVRL1c.962G>C (p.Arg321Pro)
c.1232G>C (p.Arg411Pro)
c.710G>C (p.Arg237Pro)
n.507G>C
c.1274G>C (p.Arg425Pro)
c.237G>C
c.443G>C (p.Arg148Pro)
 ClinVar dbSNP
12g.51916219G=CA2036237141ACVRL1c.962G= (p.Arg321=)
c.1232G= (p.Arg411=)
c.710G= (p.Arg237=)
n.507G=
c.1274G= (p.Arg425=)
c.237G=
c.443G= (p.Arg148=)
12g.51916219G>TCA384903038ACVRL1c.962G>T (p.Arg321Leu)
c.1232G>T (p.Arg411Leu)
c.710G>T (p.Arg237Leu)
n.507G>T
c.1274G>T (p.Arg425Leu)
c.237G>T
c.443G>T (p.Arg148Leu)
 gnomAD v4
12g.51916220G>ACA479811754ACVRL1c.963G>A (p.Arg321=)
c.1233G>A (p.Arg411=)
c.711G>A (p.Arg237=)
n.508G>A
c.1275G>A (p.Arg425=)
c.238G>A
c.444G>A (p.Arg148=)
12g.51916220G>CCA479811750ACVRL1c.963G>C (p.Arg321=)
c.1233G>C (p.Arg411=)
c.711G>C (p.Arg237=)
n.508G>C
c.1275G>C (p.Arg425=)
c.238G>C
c.444G>C (p.Arg148=)
 gnomAD v4
12g.51916220G>TCA479811747ACVRL1c.963G>T (p.Arg321=)
c.1233G>T (p.Arg411=)
c.711G>T (p.Arg237=)
n.508G>T
c.1275G>T (p.Arg425=)
c.238G>T
c.444G>T (p.Arg148=)
12g.51916221A>CCA384903043ACVRL1c.964A>C (p.Thr322Pro)
c.1234A>C (p.Thr412Pro)
c.712A>C (p.Thr238Pro)
n.509A>C
c.1276A>C (p.Thr426Pro)
c.239A>C
c.445A>C (p.Thr149Pro)
12g.51916221A>GCA384903044ACVRL1c.964A>G (p.Thr322Ala)
c.1234A>G (p.Thr412Ala)
c.712A>G (p.Thr238Ala)
n.509A>G
c.1276A>G (p.Thr426Ala)
c.239A>G
c.445A>G (p.Thr149Ala)
12g.51916221A>TCA384903041ACVRL1c.964A>T (p.Thr322Ser)
c.1234A>T (p.Thr412Ser)
c.712A>T (p.Thr238Ser)
n.509A>T
c.1276A>T (p.Thr426Ser)
c.239A>T
c.445A>T (p.Thr149Ser)
12g.51916222C>ACA384903047ACVRL1c.965C>A (p.Thr322Asn)
c.1235C>A (p.Thr412Asn)
c.713C>A (p.Thr238Asn)
n.510C>A
c.1277C>A (p.Thr426Asn)
c.240C>A
c.446C>A (p.Thr149Asn)
 ClinVar
12g.51916222C>GCA384903048ACVRL1c.965C>G (p.Thr322Ser)
c.1235C>G (p.Thr412Ser)
c.713C>G (p.Thr238Ser)
n.510C>G
c.1277C>G (p.Thr426Ser)
c.240C>G
c.446C>G (p.Thr149Ser)
12g.51916222C>TCA384903050ACVRL1c.965C>T (p.Thr322Ile)
c.1235C>T (p.Thr412Ile)
c.713C>T (p.Thr238Ile)
n.510C>T
c.1277C>T (p.Thr426Ile)
c.240C>T
c.446C>T (p.Thr149Ile)
12g.51916223C>ACA6573092ACVRL1c.966C>A (p.Thr322=)
c.1236C>A (p.Thr412=)
c.714C>A (p.Thr238=)
n.511C>A
c.1278C>A (p.Thr426=)
c.241C>A
c.447C>A (p.Thr149=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916223C=CA2036237153ACVRL1c.966C= (p.Thr322=)
c.1236C= (p.Thr412=)
c.714C= (p.Thr238=)
n.511C=
c.1278C= (p.Thr426=)
c.241C=
c.447C= (p.Thr149=)
12g.51916223C>GCA479811772ACVRL1c.966C>G (p.Thr322=)
c.1236C>G (p.Thr412=)
c.714C>G (p.Thr238=)
n.511C>G
c.1278C>G (p.Thr426=)
c.241C>G
c.447C>G (p.Thr149=)
12g.51916223C>TCA479811774ACVRL1c.966C>T (p.Thr322=)
c.1236C>T (p.Thr412=)
c.714C>T (p.Thr238=)
n.511C>T
c.1278C>T (p.Thr426=)
c.241C>T
c.447C>T (p.Thr149=)
12g.51916224A=CA2036237156ACVRL1c.967A= (p.Ile323=)
c.1237A= (p.Ile413=)
c.715A= (p.Ile239=)
n.512A=
c.1279A= (p.Ile427=)
c.242A=
c.448A= (p.Ile150=)
12g.51916224A>CCA384903051ACVRL1c.967A>C (p.Ile323Leu)
c.1237A>C (p.Ile413Leu)
c.715A>C (p.Ile239Leu)
n.512A>C
c.1279A>C (p.Ile427Leu)
c.242A>C
c.448A>C (p.Ile150Leu)
12g.51916224A>GCA6573093ACVRL1c.967A>G (p.Ile323Val)
c.1237A>G (p.Ile413Val)
c.715A>G (p.Ile239Val)
n.512A>G
c.1279A>G (p.Ile427Val)
c.242A>G
c.448A>G (p.Ile150Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916224A>TCA384903054ACVRL1c.967A>T (p.Ile323Phe)
c.1237A>T (p.Ile413Phe)
c.715A>T (p.Ile239Phe)
n.512A>T
c.1279A>T (p.Ile427Phe)
c.242A>T
c.448A>T (p.Ile150Phe)
12g.51916225T>ACA384903055ACVRL1c.968T>A (p.Ile323Asn)
c.1238T>A (p.Ile413Asn)
c.716T>A (p.Ile239Asn)
n.513T>A
c.1280T>A (p.Ile427Asn)
c.243T>A
c.449T>A (p.Ile150Asn)
12g.51916225T>CCA384903058ACVRL1c.968T>C (p.Ile323Thr)
c.1238T>C (p.Ile413Thr)
c.716T>C (p.Ile239Thr)
n.513T>C
c.1280T>C (p.Ile427Thr)
c.243T>C
c.449T>C (p.Ile150Thr)
12g.51916225T>GCA384903057ACVRL1c.968T>G (p.Ile323Ser)
c.1238T>G (p.Ile413Ser)
c.716T>G (p.Ile239Ser)
n.513T>G
c.1280T>G (p.Ile427Ser)
c.243T>G
c.449T>G (p.Ile150Ser)
12g.51916226C>ACA479811795ACVRL1c.969C>A (p.Ile323=)
c.1239C>A (p.Ile413=)
c.717C>A (p.Ile239=)
n.514C>A
c.1281C>A (p.Ile427=)
c.244C>A
c.450C>A (p.Ile150=)
12g.51916226C=CA2036237161ACVRL1c.969C= (p.Ile323=)
c.1239C= (p.Ile413=)
c.717C= (p.Ile239=)
n.514C=
c.1281C= (p.Ile427=)
c.244C=
c.450C= (p.Ile150=)
12g.51916226C>GCA384903060ACVRL1c.969C>G (p.Ile323Met)
c.1239C>G (p.Ile413Met)
c.717C>G (p.Ile239Met)
n.514C>G
c.1281C>G (p.Ile427Met)
c.244C>G
c.450C>G (p.Ile150Met)
12g.51916226C>TCA6573094ACVRL1c.969C>T (p.Ile323=)
c.1239C>T (p.Ile413=)
c.717C>T (p.Ile239=)
n.514C>T
c.1281C>T (p.Ile427=)
c.244C>T
c.450C>T (p.Ile150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51916227G>ACA6573095ACVRL1c.970G>A (p.Val324Met)
c.1240G>A (p.Val414Met)
c.718G>A (p.Val240Met)
n.515G>A
c.1282G>A (p.Val428Met)
c.245G>A
c.451G>A (p.Val151Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916227G>CCA384903062ACVRL1c.970G>C (p.Val324Leu)
c.1240G>C (p.Val414Leu)
c.718G>C (p.Val240Leu)
n.515G>C
c.1282G>C (p.Val428Leu)
c.245G>C
c.451G>C (p.Val151Leu)
12g.51916227G=CA2036237167ACVRL1c.970G= (p.Val324=)
c.1240G= (p.Val414=)
c.718G= (p.Val240=)
n.515G=
c.1282G= (p.Val428=)
c.245G=
c.451G= (p.Val151=)
12g.51916227G>TCA384903063ACVRL1c.970G>T (p.Val324Leu)
c.1240G>T (p.Val414Leu)
c.718G>T (p.Val240Leu)
n.515G>T
c.1282G>T (p.Val428Leu)
c.245G>T
c.451G>T (p.Val151Leu)
12g.51916228T>ACA384903066ACVRL1c.971T>A (p.Val324Glu)
c.1241T>A (p.Val414Glu)
c.719T>A (p.Val240Glu)
n.516T>A
c.1283T>A (p.Val428Glu)
c.246T>A
c.452T>A (p.Val151Glu)
12g.51916228T>CCA384903067ACVRL1c.971T>C (p.Val324Ala)
c.1241T>C (p.Val414Ala)
c.719T>C (p.Val240Ala)
n.516T>C
c.1283T>C (p.Val428Ala)
c.246T>C
c.452T>C (p.Val151Ala)
12g.51916228T>GCA384903065ACVRL1c.971T>G (p.Val324Gly)
c.1241T>G (p.Val414Gly)
c.719T>G (p.Val240Gly)
n.516T>G
c.1283T>G (p.Val428Gly)
c.246T>G
c.452T>G (p.Val151Gly)
12g.51916229G>ACA479811823ACVRL1c.972G>A (p.Val324=)
c.1242G>A (p.Val414=)
c.720G>A (p.Val240=)
n.517G>A
c.1284G>A (p.Val428=)
c.247G>A
c.453G>A (p.Val151=)
12g.51916229G>CCA479811826ACVRL1c.972G>C (p.Val324=)
c.1242G>C (p.Val414=)
c.720G>C (p.Val240=)
n.517G>C
c.1284G>C (p.Val428=)
c.247G>C
c.453G>C (p.Val151=)
12g.51916229G>TCA479811829ACVRL1c.972G>T (p.Val324=)
c.1242G>T (p.Val414=)
c.720G>T (p.Val240=)
n.517G>T
c.1284G>T (p.Val428=)
c.247G>T
c.453G>T (p.Val151=)
12g.51916230A>CCA384903069ACVRL1c.973A>C (p.Asn325His)
c.1243A>C (p.Asn415His)
c.721A>C (p.Asn241His)
n.518A>C
c.1285A>C (p.Asn429His)
c.248A>C
c.454A>C (p.Asn152His)
12g.51916230A>GCA384903068ACVRL1c.973A>G (p.Asn325Asp)
c.1243A>G (p.Asn415Asp)
c.721A>G (p.Asn241Asp)
n.518A>G
c.1285A>G (p.Asn429Asp)
c.248A>G
c.454A>G (p.Asn152Asp)
12g.51916230A>TCA384903070ACVRL1c.973A>T (p.Asn325Tyr)
c.1243A>T (p.Asn415Tyr)
c.721A>T (p.Asn241Tyr)
n.518A>T
c.1285A>T (p.Asn429Tyr)
c.248A>T
c.454A>T (p.Asn152Tyr)
12g.51916231A=CA2036237173ACVRL1c.974A= (p.Asn325=)
c.1244A= (p.Asn415=)
c.722A= (p.Asn241=)
n.519A=
c.1286A= (p.Asn429=)
c.249A=
c.455A= (p.Asn152=)
12g.51916231A>CCA384903072ACVRL1c.974A>C (p.Asn325Thr)
c.1244A>C (p.Asn415Thr)
c.722A>C (p.Asn241Thr)
n.519A>C
c.1286A>C (p.Asn429Thr)
c.249A>C
c.455A>C (p.Asn152Thr)
12g.51916231A>GCA384903076ACVRL1c.974A>G (p.Asn325Ser)
c.1244A>G (p.Asn415Ser)
c.722A>G (p.Asn241Ser)
n.519A>G
c.1286A>G (p.Asn429Ser)
c.249A>G
c.455A>G (p.Asn152Ser)
 dbSNP
12g.51916231A>TCA384903073ACVRL1c.974A>T (p.Asn325Ile)
c.1244A>T (p.Asn415Ile)
c.722A>T (p.Asn241Ile)
n.519A>T
c.1286A>T (p.Asn429Ile)
c.249A>T
c.455A>T (p.Asn152Ile)
12g.51916232T>ACA384903078ACVRL1c.975T>A (p.Asn325Lys)
c.1245T>A (p.Asn415Lys)
c.723T>A (p.Asn241Lys)
n.520T>A
c.1287T>A (p.Asn429Lys)
c.250T>A
c.456T>A (p.Asn152Lys)
12g.51916232T>CCA479811857ACVRL1c.975T>C (p.Asn325=)
c.1245T>C (p.Asn415=)
c.723T>C (p.Asn241=)
n.520T>C
c.1287T>C (p.Asn429=)
c.250T>C
c.456T>C (p.Asn152=)
12g.51916232T>GCA384903081ACVRL1c.975T>G (p.Asn325Lys)
c.1245T>G (p.Asn415Lys)
c.723T>G (p.Asn241Lys)
n.520T>G
c.1287T>G (p.Asn429Lys)
c.250T>G
c.456T>G (p.Asn152Lys)
12g.51916233G>ACA384903083ACVRL1c.976G>A (p.Gly326Ser)
c.1246G>A (p.Gly416Ser)
c.724G>A (p.Gly242Ser)
n.521G>A
c.1288G>A (p.Gly430Ser)
c.251G>A
c.457G>A (p.Gly153Ser)
 ClinVar dbSNP
12g.51916233G>CCA384903088ACVRL1c.976G>C (p.Gly326Arg)
c.1246G>C (p.Gly416Arg)
c.724G>C (p.Gly242Arg)
n.521G>C
c.1288G>C (p.Gly430Arg)
c.251G>C
c.457G>C (p.Gly153Arg)
12g.51916233G=CA2036237176ACVRL1c.976G= (p.Gly326=)
c.1246G= (p.Gly416=)
c.724G= (p.Gly242=)
n.521G=
c.1288G= (p.Gly430=)
c.251G=
c.457G= (p.Gly153=)
12g.51916233G>TCA384903089ACVRL1c.976G>T (p.Gly326Cys)
c.1246G>T (p.Gly416Cys)
c.724G>T (p.Gly242Cys)
n.521G>T
c.1288G>T (p.Gly430Cys)
c.251G>T
c.457G>T (p.Gly153Cys)
12g.51916234G>ACA384903091ACVRL1c.976+1G>A (n.976+1G>A)
c.1246+1G>A (n.1246+1G>A)
c.724+1G>A (n.724+1G>A)
n.521+1G>A
c.1288+1G>A (n.1288+1G>A)
c.251+1G>A
c.457+1G>A (n.457+1G>A)
 ClinVar dbSNP
12g.51916234G>CCA384903093ACVRL1c.976+1G>C (n.976+1G>C)
c.1246+1G>C (n.1246+1G>C)
c.724+1G>C (n.724+1G>C)
n.521+1G>C
c.1288+1G>C (n.1288+1G>C)
c.251+1G>C
c.457+1G>C (n.457+1G>C)
12g.51916234G=CA2036237182ACVRL1c.976+1G= (n.976+1G=)
c.1246+1G= (n.1246+1G=)
c.724+1G= (n.724+1G=)
n.521+1G=
c.1288+1G= (n.1288+1G=)
c.251+1G=
c.457+1G= (n.457+1G=)
12g.51916234G>TCA384903094ACVRL1c.976+1G>T (n.976+1G>T)
c.1246+1G>T (n.1246+1G>T)
c.724+1G>T (n.724+1G>T)
n.521+1G>T
c.1288+1G>T (n.1288+1G>T)
c.251+1G>T
c.457+1G>T (n.457+1G>T)
12g.51916235T>ACA384903096ACVRL1c.976+2T>A (n.976+2T>A)
c.1246+2T>A (n.1246+2T>A)
c.724+2T>A (n.724+2T>A)
n.521+2T>A
c.1288+2T>A (n.1288+2T>A)
c.251+2T>A
c.457+2T>A (n.457+2T>A)
12g.51916235T>CCA384903098ACVRL1c.976+2T>C (n.976+2T>C)
c.1246+2T>C (n.1246+2T>C)
c.724+2T>C (n.724+2T>C)
n.521+2T>C
c.1288+2T>C (n.1288+2T>C)
c.251+2T>C
c.457+2T>C (n.457+2T>C)
 ClinVar dbSNP
12g.51916235T>GCA384903100ACVRL1c.976+2T>G (n.976+2T>G)
c.1246+2T>G (n.1246+2T>G)
c.724+2T>G (n.724+2T>G)
n.521+2T>G
c.1288+2T>G (n.1288+2T>G)
c.251+2T>G
c.457+2T>G (n.457+2T>G)
12g.51916235T=CA2036237188ACVRL1c.976+2T= (n.976+2T=)
c.1246+2T= (n.1246+2T=)
c.724+2T= (n.724+2T=)
n.521+2T=
c.1288+2T= (n.1288+2T=)
c.251+2T=
c.457+2T= (n.457+2T=)
12g.51916237_51916238delinsAGCA2036237192ACVRL1c.976+4_976+5delinsAG (n.976+4_976+5delinsAG)
c.1246+4_1246+5delinsAG (n.1246+4_1246+5delinsAG)
c.724+4_724+5delinsAG (n.724+4_724+5delinsAG)
n.521+4_521+5delinsAG
c.1288+4_1288+5delinsAG (n.1288+4_1288+5delinsAG)
c.251+4_251+5delinsAG
c.457+4_457+5delinsAG (n.457+4_457+5delinsAG)
12g.51916238G>ACA1139662706ACVRL1c.976+5G>A (n.976+5G>A)
c.1246+5G>A (n.1246+5G>A)
c.724+5G>A (n.724+5G>A)
n.521+5G>A
c.1288+5G>A (n.1288+5G>A)
c.251+5G>A
c.457+5G>A (n.457+5G>A)
 ClinVar dbSNP
12g.51916238G=CA2036237197ACVRL1c.976+5G= (n.976+5G=)
c.1246+5G= (n.1246+5G=)
c.724+5G= (n.724+5G=)
n.521+5G=
c.1288+5G= (n.1288+5G=)
c.251+5G=
c.457+5G= (n.457+5G=)
12g.51916240delCA6573096ACVRL1c.976+7del (n.976+7del)
c.1246+7del (n.1246+7del)
c.724+7del (n.724+7del)
n.521+7del
c.1288+7del (n.1288+7del)
c.251+7del
c.457+7del (n.457+7del)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916240G>ACA2618859600ACVRL1c.976+7G>A (n.976+7G>A)
c.1246+7G>A (n.1246+7G>A)
c.724+7G>A (n.724+7G>A)
n.521+7G>A
c.1288+7G>A (n.1288+7G>A)
c.251+7G>A
c.457+7G>A (n.457+7G>A)
 gnomAD v4
12g.51916240G>TCA2618859601ACVRL1c.976+7G>T (n.976+7G>T)
c.1246+7G>T (n.1246+7G>T)
c.724+7G>T (n.724+7G>T)
n.521+7G>T
c.1288+7G>T (n.1288+7G>T)
c.251+7G>T
c.457+7G>T (n.457+7G>T)
 gnomAD v4
12g.51916243delCA2618859602ACVRL1c.976+10del (n.976+10del)
c.1246+10del (n.1246+10del)
c.724+10del (n.724+10del)
n.521+10del
c.1288+10del (n.1288+10del)
c.251+10del
c.457+10del (n.457+10del)
 gnomAD v4
12g.51916242C=CA2036237202ACVRL1c.976+9C= (n.976+9C=)
c.1246+9C= (n.1246+9C=)
c.724+9C= (n.724+9C=)
n.521+9C=
c.1288+9C= (n.1288+9C=)
c.251+9C=
c.457+9C= (n.457+9C=)
12g.51916242C>TCA6573097ACVRL1c.976+9C>T (n.976+9C>T)
c.1246+9C>T (n.1246+9C>T)
c.724+9C>T (n.724+9C>T)
n.521+9C>T
c.1288+9C>T (n.1288+9C>T)
c.251+9C>T
c.457+9C>T (n.457+9C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916243C>TCA2618859603ACVRL1c.976+10C>T (n.976+10C>T)
c.1246+10C>T (n.1246+10C>T)
c.724+10C>T (n.724+10C>T)
n.521+10C>T
c.1288+10C>T (n.1288+10C>T)
c.251+10C>T
c.457+10C>T (n.457+10C>T)
 gnomAD v4
12g.51916245_51916253dupCA919088106ACVRL1c.976+12_976+20dup (n.976+12_976+20dup)
c.1246+12_1246+20dup (n.1246+12_1246+20dup)
c.724+12_724+20dup (n.724+12_724+20dup)
n.521+12_521+20dup
c.1288+12_1288+20dup (n.1288+12_1288+20dup)
c.251+12_251+20dup
c.457+12_457+20dup (n.457+12_457+20dup)
 dbSNP gnomAD v4
12g.51916244A=CA2036237210ACVRL1c.976+11A= (n.976+11A=)
c.1246+11A= (n.1246+11A=)
c.724+11A= (n.724+11A=)
n.521+11A=
c.1288+11A= (n.1288+11A=)
c.251+11A=
c.457+11A= (n.457+11A=)
12g.51916244A>CCA2036237209ACVRL1c.976+11A>C (n.976+11A>C)
c.1246+11A>C (n.1246+11A>C)
c.724+11A>C (n.724+11A>C)
n.521+11A>C
c.1288+11A>C (n.1288+11A>C)
c.251+11A>C
c.457+11A>C (n.457+11A>C)
 dbSNP
12g.51916244A>GCA2575161532ACVRL1c.976+11A>G (n.976+11A>G)
c.1246+11A>G (n.1246+11A>G)
c.724+11A>G (n.724+11A>G)
n.521+11A>G
c.1288+11A>G (n.1288+11A>G)
c.251+11A>G
c.457+11A>G (n.457+11A>G)
 ClinVar gnomAD v4
12g.51916244_51916256delinsACCCTACACAGGGCA2036237212ACVRL1c.976+11_976+23delinsACCCTACACAGGG (n.976+11_976+23delinsACCCTACACAGGG)
c.1246+11_1246+23delinsACCCTACACAGGG (n.1246+11_1246+23delinsACCCTACACAGGG)
c.724+11_724+23delinsACCCTACACAGGG (n.724+11_724+23delinsACCCTACACAGGG)
n.521+11_521+23delinsACCCTACACAGGG
c.1288+11_1288+23delinsACCCTACACAGGG (n.1288+11_1288+23delinsACCCTACACAGGG)
c.251+11_251+23delinsACCCTACACAGGG
c.457+11_457+23delinsACCCTACACAGGG (n.457+11_457+23delinsACCCTACACAGGG)
12g.51916245C>ACA605238926ACVRL1c.976+12C>A (n.976+12C>A)
c.1246+12C>A (n.1246+12C>A)
c.724+12C>A (n.724+12C>A)
n.521+12C>A
c.1288+12C>A (n.1288+12C>A)
c.251+12C>A
c.457+12C>A (n.457+12C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51916245C=CA2036237213ACVRL1c.976+12C= (n.976+12C=)
c.1246+12C= (n.1246+12C=)
c.724+12C= (n.724+12C=)
n.521+12C=
c.1288+12C= (n.1288+12C=)
c.251+12C=
c.457+12C= (n.457+12C=)
12g.51916245C>TCA689767229ACVRL1c.976+12C>T (n.976+12C>T)
c.1246+12C>T (n.1246+12C>T)
c.724+12C>T (n.724+12C>T)
n.521+12C>T
c.1288+12C>T (n.1288+12C>T)
c.251+12C>T
c.457+12C>T (n.457+12C>T)
 dbSNP gnomAD v4
12g.51916247delCA2618859604ACVRL1c.976+14del (n.976+14del)
c.1246+14del (n.1246+14del)
c.724+14del (n.724+14del)
n.521+14del
c.1288+14del (n.1288+14del)
c.251+14del
c.457+14del (n.457+14del)
 gnomAD v4
12g.51916245_51916256delCA6573098ACVRL1c.976+12_976+23del (n.976+12_976+23del)
c.1246+12_1246+23del (n.1246+12_1246+23del)
c.724+12_724+23del (n.724+12_724+23del)
n.521+12_521+23del
c.1288+12_1288+23del (n.1288+12_1288+23del)
c.251+12_251+23del
c.457+12_457+23del (n.457+12_457+23del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916247C>ACA2575161540ACVRL1c.976+14C>A (n.976+14C>A)
c.1246+14C>A (n.1246+14C>A)
c.724+14C>A (n.724+14C>A)
n.521+14C>A
c.1288+14C>A (n.1288+14C>A)
c.251+14C>A
c.457+14C>A (n.457+14C>A)
12g.51916248T>CCA689767235ACVRL1c.976+15T>C (n.976+15T>C)
c.1246+15T>C (n.1246+15T>C)
c.724+15T>C (n.724+15T>C)
n.521+15T>C
c.1288+15T>C (n.1288+15T>C)
c.251+15T>C
c.457+15T>C (n.457+15T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51916248T=CA2036237217ACVRL1c.976+15T= (n.976+15T=)
c.1246+15T= (n.1246+15T=)
c.724+15T= (n.724+15T=)
n.521+15T=
c.1288+15T= (n.1288+15T=)
c.251+15T=
c.457+15T= (n.457+15T=)
12g.51916248_51916252delinsTACACCA2036237216ACVRL1c.976+15_976+19delinsTACAC (n.976+15_976+19delinsTACAC)
c.1246+15_1246+19delinsTACAC (n.1246+15_1246+19delinsTACAC)
c.724+15_724+19delinsTACAC (n.724+15_724+19delinsTACAC)
n.521+15_521+19delinsTACAC
c.1288+15_1288+19delinsTACAC (n.1288+15_1288+19delinsTACAC)
c.251+15_251+19delinsTACAC
c.457+15_457+19delinsTACAC (n.457+15_457+19delinsTACAC)
12g.51916249A=CA2036237222ACVRL1c.976+16A= (n.976+16A=)
c.1246+16A= (n.1246+16A=)
c.724+16A= (n.724+16A=)
n.521+16A=
c.1288+16A= (n.1288+16A=)
c.251+16A=
c.457+16A= (n.457+16A=)
12g.51916249A>CCA2036237221ACVRL1c.976+16A>C (n.976+16A>C)
c.1246+16A>C (n.1246+16A>C)
c.724+16A>C (n.724+16A>C)
n.521+16A>C
c.1288+16A>C (n.1288+16A>C)
c.251+16A>C
c.457+16A>C (n.457+16A>C)
 ClinVar dbSNP
12g.51916249A>GCA6573100ACVRL1c.976+16A>G (n.976+16A>G)
c.1246+16A>G (n.1246+16A>G)
c.724+16A>G (n.724+16A>G)
n.521+16A>G
c.1288+16A>G (n.1288+16A>G)
c.251+16A>G
c.457+16A>G (n.457+16A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916250_51916253delCA6573099ACVRL1c.976+17_976+20del (n.976+17_976+20del)
c.1246+17_1246+20del (n.1246+17_1246+20del)
c.724+17_724+20del (n.724+17_724+20del)
n.521+17_521+20del
c.1288+17_1288+20del (n.1288+17_1288+20del)
c.251+17_251+20del
c.457+17_457+20del (n.457+17_457+20del)
 dbSNP ExAC gnomAD v4
12g.51916250C>TCA2530591504ACVRL1c.976+17C>T (n.976+17C>T)
c.1246+17C>T (n.1246+17C>T)
c.724+17C>T (n.724+17C>T)
n.521+17C>T
c.1288+17C>T (n.1288+17C>T)
c.251+17C>T
c.457+17C>T (n.457+17C>T)
12g.51916251A>CCA2575161542ACVRL1c.976+18A>C (n.976+18A>C)
c.1246+18A>C (n.1246+18A>C)
c.724+18A>C (n.724+18A>C)
n.521+18A>C
c.1288+18A>C (n.1288+18A>C)
c.251+18A>C
c.457+18A>C (n.457+18A>C)

Number of alleles fetched