Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51913063_51913103delinsTGAAGCA2580086421ACVRL1c.104-36_108delinsTGAAG
c.62-36_66delinsTGAAG
c.103+528_103+568delinsTGAAG (n.103+528_103+568delinsTGAAG)
 ClinVar
12g.51913096C>ACA2618856653ACVRL1c.104-3C>A (n.104-3C>A)
c.62-3C>A (n.62-3C>A)
c.103+561C>A (n.103+561C>A)
 gnomAD v4
12g.51913096C=CA2036266809ACVRL1c.104-3C= (n.104-3C=)
c.62-3C= (n.62-3C=)
c.103+561C= (n.103+561C=)
12g.51913096C>TCA2036266810ACVRL1c.104-3C>T (n.104-3C>T)
c.62-3C>T (n.62-3C>T)
c.103+561C>T (n.103+561C>T)
 dbSNP gnomAD v4
12g.51913096_51913097insTCCA2524472596ACVRL1c.104-3_104-2insTC (n.104-3_104-2insTC)
c.62-3_62-2insTC (n.62-3_62-2insTC)
c.103+561_103+562insTC (n.103+561_103+562insTC)
12g.51913097A>CCA384897354ACVRL1c.104-2A>C (n.104-2A>C)
c.62-2A>C (n.62-2A>C)
c.103+562A>C (n.103+562A>C)
12g.51913097A>GCA384897353ACVRL1c.104-2A>G (n.104-2A>G)
c.62-2A>G (n.62-2A>G)
c.103+562A>G (n.103+562A>G)
 gnomAD v4
12g.51913097A>TCA384897352ACVRL1c.104-2A>T (n.104-2A>T)
c.62-2A>T (n.62-2A>T)
c.103+562A>T (n.103+562A>T)
12g.51913098G>ACA6572804ACVRL1c.104-1G>A (n.104-1G>A)
c.62-1G>A (n.62-1G>A)
c.103+563G>A (n.103+563G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.51913098G>CCA384897355ACVRL1c.104-1G>C (n.104-1G>C)
c.62-1G>C (n.62-1G>C)
c.103+563G>C (n.103+563G>C)
12g.51913098G=CA2036266813ACVRL1c.104-1G= (n.104-1G=)
c.62-1G= (n.62-1G=)
c.103+563G= (n.103+563G=)
12g.51913098G>TCA384897356ACVRL1c.104-1G>T (n.104-1G>T)
c.62-1G>T (n.62-1G>T)
c.103+563G>T (n.103+563G>T)
 gnomAD v4
12g.51913099G>ACA384897357ACVRL1c.104G>A (p.Gly35Glu)
c.62G>A (p.Gly21Glu)
c.103+564G>A (n.103+564G>A)
 COSMIC COSMIC
12g.51913099G>CCA384897358ACVRL1c.104G>C (p.Gly35Ala)
c.62G>C (p.Gly21Ala)
c.103+564G>C (n.103+564G>C)
12g.51913099G>TCA384897359ACVRL1c.104G>T (p.Gly35Val)
c.62G>T (p.Gly21Val)
c.103+564G>T (n.103+564G>T)
 gnomAD v4
12g.51913100A>CCA480062988ACVRL1c.105A>C (p.Gly35=)
c.63A>C (p.Gly21=)
c.103+565A>C (n.103+565A>C)
 gnomAD v4
12g.51913100A>GCA480062989ACVRL1c.105A>G (p.Gly35=)
c.63A>G (p.Gly21=)
c.103+565A>G (n.103+565A>G)
12g.51913100A>TCA480062990ACVRL1c.105A>T (p.Gly35=)
c.63A>T (p.Gly21=)
c.103+565A>T (n.103+565A>T)
 gnomAD v4
12g.51913101G>ACA384897362ACVRL1c.106G>A (p.Asp36Asn)
c.64G>A (p.Asp22Asn)
c.103+566G>A (n.103+566G>A)
12g.51913101G>CCA384897360ACVRL1c.106G>C (p.Asp36His)
c.64G>C (p.Asp22His)
c.103+566G>C (n.103+566G>C)
12g.51913101G>TCA384897361ACVRL1c.106G>T (p.Asp36Tyr)
c.64G>T (p.Asp22Tyr)
c.103+566G>T (n.103+566G>T)
 gnomAD v4
12g.51913102delCA2580086422ACVRL1c.107del (p.Asp36AlafsTer3)
c.65del (p.Asp22AlafsTer3)
c.103+567del (n.103+567del)
 ClinVar
12g.51913102A=CA2036266818ACVRL1c.107A= (p.Asp36=)
c.65A= (p.Asp22=)
c.103+567A= (n.103+567A=)
12g.51913102A>CCA384897363ACVRL1c.107A>C (p.Asp36Ala)
c.65A>C (p.Asp22Ala)
c.103+567A>C (n.103+567A>C)
 dbSNP
12g.51913102A>GCA384897364ACVRL1c.107A>G (p.Asp36Gly)
c.65A>G (p.Asp22Gly)
c.103+567A>G (n.103+567A>G)
12g.51913102A>TCA384897365ACVRL1c.107A>T (p.Asp36Val)
c.65A>T (p.Asp22Val)
c.103+567A>T (n.103+567A>T)
12g.51913102_51913103delCA2695216660ACVRL1c.107_108del (p.Asp36AlafsTer15)
c.65_66del (p.Asp22AlafsTer15)
c.103+567_103+568del (n.103+567_103+568del)
12g.51913103C>ACA384897366ACVRL1c.108C>A (p.Asp36Glu)
c.66C>A (p.Asp22Glu)
c.103+568C>A (n.103+568C>A)
 gnomAD v4
12g.51913103C>GCA384897367ACVRL1c.108C>G (p.Asp36Glu)
c.66C>G (p.Asp22Glu)
c.103+568C>G (n.103+568C>G)
 gnomAD v4
12g.51913103C>TCA480062991ACVRL1c.108C>T (p.Asp36=)
c.66C>T (p.Asp22=)
c.103+568C>T (n.103+568C>T)
 gnomAD v4
12g.51913105delCA2573053702ACVRL1c.110del (p.Pro37LeufsTer2)
c.68del (p.Pro23LeufsTer2)
c.103+570del (n.103+570del)
 ClinVar dbSNP
12g.51913104C>ACA384897368ACVRL1c.109C>A (p.Pro37Thr)
c.67C>A (p.Pro23Thr)
c.103+569C>A (n.103+569C>A)
12g.51913104C>GCA384897370ACVRL1c.109C>G (p.Pro37Ala)
c.67C>G (p.Pro23Ala)
c.103+569C>G (n.103+569C>G)
 gnomAD v4
12g.51913104C>TCA384897369ACVRL1c.109C>T (p.Pro37Ser)
c.67C>T (p.Pro23Ser)
c.103+569C>T (n.103+569C>T)
 gnomAD v4
12g.51913105C>ACA384897371ACVRL1c.110C>A (p.Pro37His)
c.68C>A (p.Pro23His)
c.103+570C>A (n.103+570C>A)
 gnomAD v4
12g.51913105C=CA2036266820ACVRL1c.110C= (p.Pro37=)
c.68C= (p.Pro23=)
c.103+570C= (n.103+570C=)
12g.51913105C>GCA384897372ACVRL1c.110C>G (p.Pro37Arg)
c.68C>G (p.Pro23Arg)
c.103+570C>G (n.103+570C>G)
12g.51913105C>TCA384897373ACVRL1c.110C>T (p.Pro37Leu)
c.68C>T (p.Pro23Leu)
c.103+570C>T (n.103+570C>T)
 dbSNP gnomAD v2
12g.51913108_51913130delCA2580086423ACVRL1c.113_135del (p.Val38GlyfsTer6)
c.71_93del (p.Val24GlyfsTer6)
c.103+573_103+595del (n.103+573_103+595del)
 ClinVar
12g.51913106T>ACA480062993ACVRL1c.111T>A (p.Pro37=)
c.69T>A (p.Pro23=)
c.103+571T>A (n.103+571T>A)
 gnomAD v4
12g.51913106T>CCA6572805ACVRL1c.111T>C (p.Pro37=)
c.69T>C (p.Pro23=)
c.103+571T>C (n.103+571T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913106T>GCA480062992ACVRL1c.111T>G (p.Pro37=)
c.69T>G (p.Pro23=)
c.103+571T>G (n.103+571T>G)
12g.51913106T=CA2036266829ACVRL1c.111T= (p.Pro37=)
c.69T= (p.Pro23=)
c.103+571T= (n.103+571T=)
12g.51913106_51913114delinsTGTGAAGCCCA2036266827ACVRL1c.111_119delinsTGTGAAGCC (p.Pro37=)
c.69_77delinsTGTGAAGCC (p.Pro23=)
c.103+571_103+579delinsTGTGAAGCC (n.103+571_103+579delinsTGTGAAGCC)
12g.51913107G>ACA384897375ACVRL1c.112G>A (p.Val38Met)
c.70G>A (p.Val24Met)
c.103+572G>A (n.103+572G>A)
 gnomAD v4
12g.51913107G>CCA384897377ACVRL1c.112G>C (p.Val38Leu)
c.70G>C (p.Val24Leu)
c.103+572G>C (n.103+572G>C)
12g.51913107G>TCA384897379ACVRL1c.112G>T (p.Val38Leu)
c.70G>T (p.Val24Leu)
c.103+572G>T (n.103+572G>T)
 gnomAD v4
12g.51913109_51913116delCA915948518ACVRL1c.114_121del (p.Lys39SerfsTer10)
c.72_79del (p.Lys25SerfsTer10)
c.103+574_103+581del (n.103+574_103+581del)
 ClinVar dbSNP
12g.51913108T>ACA384897381ACVRL1c.113T>A (p.Val38Glu)
c.71T>A (p.Val24Glu)
c.103+573T>A (n.103+573T>A)
12g.51913108T>CCA384897383ACVRL1c.113T>C (p.Val38Ala)
c.71T>C (p.Val24Ala)
c.103+573T>C (n.103+573T>C)
12g.51913108T>GCA384897388ACVRL1c.113T>G (p.Val38Gly)
c.71T>G (p.Val24Gly)
c.103+573T>G (n.103+573T>G)
12g.51913109G>ACA480063000ACVRL1c.114G>A (p.Val38=)
c.72G>A (p.Val24=)
c.103+574G>A (n.103+574G>A)
 COSMIC COSMIC
12g.51913109G>CCA480062998ACVRL1c.114G>C (p.Val38=)
c.72G>C (p.Val24=)
c.103+574G>C (n.103+574G>C)
12g.51913109G>TCA480062999ACVRL1c.114G>T (p.Val38=)
c.72G>T (p.Val24=)
c.103+574G>T (n.103+574G>T)
 gnomAD v4
12g.51913110A>CCA384897394ACVRL1c.115A>C (p.Lys39Gln)
c.73A>C (p.Lys25Gln)
c.103+575A>C (n.103+575A>C)
12g.51913110A>GCA384897393ACVRL1c.115A>G (p.Lys39Glu)
c.73A>G (p.Lys25Glu)
c.103+575A>G (n.103+575A>G)
 gnomAD v4
12g.51913110A>TCA384897391ACVRL1c.115A>T (p.Lys39Ter)
c.73A>T (p.Lys25Ter)
c.103+575A>T (n.103+575A>T)
 ClinVar
12g.51913111A>CCA384897397ACVRL1c.116A>C (p.Lys39Thr)
c.74A>C (p.Lys25Thr)
c.103+576A>C (n.103+576A>C)
12g.51913111A>GCA384897399ACVRL1c.116A>G (p.Lys39Arg)
c.74A>G (p.Lys25Arg)
c.103+576A>G (n.103+576A>G)
 COSMIC
12g.51913111A>TCA384897400ACVRL1c.116A>T (p.Lys39Met)
c.74A>T (p.Lys25Met)
c.103+576A>T (n.103+576A>T)
12g.51913111_51913114delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGGCA2580086424ACVRL1c.116_119delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys39SerfsTer3)
c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25SerfsTer3)
c.103+576_103+579delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (n.103+576_103+579delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG)
 ClinVar
12g.51913112G>ACA480063004ACVRL1c.117G>A (p.Lys39=)
c.75G>A (p.Lys25=)
c.103+577G>A (n.103+577G>A)
 gnomAD v4
12g.51913112G>CCA384897407ACVRL1c.117G>C (p.Lys39Asn)
c.75G>C (p.Lys25Asn)
c.103+577G>C (n.103+577G>C)
12g.51913112G=CA2036266835ACVRL1c.117G= (p.Lys39=)
c.75G= (p.Lys25=)
c.103+577G= (n.103+577G=)
12g.51913112G>TCA384897408ACVRL1c.117G>T (p.Lys39Asn)
c.75G>T (p.Lys25Asn)
c.103+577G>T (n.103+577G>T)
 dbSNP gnomAD v4
12g.51913113C>ACA384897411ACVRL1c.118C>A (p.Pro40Thr)
c.76C>A (p.Pro26Thr)
c.103+578C>A (n.103+578C>A)
 gnomAD v4
12g.51913113C=CA2036266838ACVRL1c.118C= (p.Pro40=)
c.76C= (p.Pro26=)
c.103+578C= (n.103+578C=)
12g.51913113C>GCA384897412ACVRL1c.118C>G (p.Pro40Ala)
c.76C>G (p.Pro26Ala)
c.103+578C>G (n.103+578C>G)
 gnomAD v4
12g.51913113C>TCA384897414ACVRL1c.118C>T (p.Pro40Ser)
c.76C>T (p.Pro26Ser)
c.103+578C>T (n.103+578C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51913114C>ACA384897417ACVRL1c.119C>A (p.Pro40Gln)
c.77C>A (p.Pro26Gln)
c.103+579C>A (n.103+579C>A)
 gnomAD v4
12g.51913114C=CA2036266842ACVRL1c.119C= (p.Pro40=)
c.77C= (p.Pro26=)
c.103+579C= (n.103+579C=)
12g.51913114C>GCA384897421ACVRL1c.119C>G (p.Pro40Arg)
c.77C>G (p.Pro26Arg)
c.103+579C>G (n.103+579C>G)
12g.51913114C>TCA6572806ACVRL1c.119C>T (p.Pro40Leu)
c.77C>T (p.Pro26Leu)
c.103+579C>T (n.103+579C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913115G>ACA6572807ACVRL1c.120G>A (p.Pro40=)
c.78G>A (p.Pro26=)
c.103+580G>A (n.103+580G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913115G>CCA480063009ACVRL1c.120G>C (p.Pro40=)
c.78G>C (p.Pro26=)
c.103+580G>C (n.103+580G>C)
 dbSNP
12g.51913115G=CA2036266850ACVRL1c.120G= (p.Pro40=)
c.78G= (p.Pro26=)
c.103+580G= (n.103+580G=)
12g.51913115G>TCA480063010ACVRL1c.120G>T (p.Pro40=)
c.78G>T (p.Pro26=)
c.103+580G>T (n.103+580G>T)
 gnomAD v4
12g.51913115_51913118delCA2499221742ACVRL1c.120_123del (p.Ser41GlyfsTer5)
c.78_81del (p.Ser27GlyfsTer5)
c.103+580_103+583del (n.103+580_103+583del)
 ClinVar dbSNP
12g.51913116T>ACA384897424ACVRL1c.121T>A (p.Ser41Thr)
c.79T>A (p.Ser27Thr)
c.103+581T>A (n.103+581T>A)
12g.51913116T>CCA384897426ACVRL1c.121T>C (p.Ser41Pro)
c.79T>C (p.Ser27Pro)
c.103+581T>C (n.103+581T>C)
12g.51913116T>GCA384897428ACVRL1c.121T>G (p.Ser41Ala)
c.79T>G (p.Ser27Ala)
c.103+581T>G (n.103+581T>G)
12g.51913117C>ACA384897430ACVRL1c.122C>A (p.Ser41Tyr)
c.80C>A (p.Ser27Tyr)
c.103+582C>A (n.103+582C>A)
 gnomAD v4
12g.51913117C>GCA384897433ACVRL1c.122C>G (p.Ser41Cys)
c.80C>G (p.Ser27Cys)
c.103+582C>G (n.103+582C>G)
 COSMIC COSMIC
12g.51913117C>TCA384897431ACVRL1c.122C>T (p.Ser41Phe)
c.80C>T (p.Ser27Phe)
c.103+582C>T (n.103+582C>T)
 gnomAD v4
12g.51913118T>ACA480063012ACVRL1c.123T>A (p.Ser41=)
c.81T>A (p.Ser27=)
c.103+583T>A (n.103+583T>A)
12g.51913118T>CCA480063013ACVRL1c.123T>C (p.Ser41=)
c.81T>C (p.Ser27=)
c.103+583T>C (n.103+583T>C)
 gnomAD v4
12g.51913118T>GCA480063014ACVRL1c.123T>G (p.Ser41=)
c.81T>G (p.Ser27=)
c.103+583T>G (n.103+583T>G)
12g.51913118dupCA2695216661ACVRL1c.123dup (p.Arg42SerfsTer10)
c.81dup (p.Arg28SerfsTer10)
c.103+583dup (n.103+583dup)
12g.51913119C>ACA480063016ACVRL1c.124C>A (p.Arg42=)
c.82C>A (p.Arg28=)
c.103+584C>A (n.103+584C>A)
 gnomAD v4
12g.51913119C=CA2036266869ACVRL1c.124C= (p.Arg42=)
c.82C= (p.Arg28=)
c.103+584C= (n.103+584C=)
12g.51913119C>GCA384897441ACVRL1c.124C>G (p.Arg42Gly)
c.82C>G (p.Arg28Gly)
c.103+584C>G (n.103+584C>G)
 gnomAD v4
12g.51913119C>TCA6572808ACVRL1c.124C>T (p.Arg42Trp)
c.82C>T (p.Arg28Trp)
c.103+584C>T (n.103+584C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913119_51913120delinsCGCA2036266862ACVRL1c.124_125delinsCG (p.Arg42=)
c.82_83delinsCG (p.Arg28=)
c.103+584_103+585delinsCG (n.103+584_103+585delinsCG)
12g.51913120G>ACA384897445ACVRL1c.125G>A (p.Arg42Gln)
c.83G>A (p.Arg28Gln)
c.103+585G>A (n.103+585G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51913120G>CCA6572809ACVRL1c.125G>C (p.Arg42Pro)
c.83G>C (p.Arg28Pro)
c.103+585G>C (n.103+585G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913120G=CA2036266878ACVRL1c.125G= (p.Arg42=)
c.83G= (p.Arg28=)
c.103+585G= (n.103+585G=)
12g.51913120G>TCA384897447ACVRL1c.125G>T (p.Arg42Leu)
c.83G>T (p.Arg28Leu)
c.103+585G>T (n.103+585G>T)
 gnomAD v4
12g.51913123delCA916081665ACVRL1c.128del (p.Gly43AlafsTer4)
c.86del (p.Gly29AlafsTer4)
c.103+588del (n.103+588del)
 ClinVar dbSNP
12g.51913121G>ACA480063020ACVRL1c.126G>A (p.Arg42=)
c.84G>A (p.Arg28=)
c.103+586G>A (n.103+586G>A)
 gnomAD v4
12g.51913121G>CCA480063022ACVRL1c.126G>C (p.Arg42=)
c.84G>C (p.Arg28=)
c.103+586G>C (n.103+586G>C)
12g.51913121G>TCA480063023ACVRL1c.126G>T (p.Arg42=)
c.84G>T (p.Arg28=)
c.103+586G>T (n.103+586G>T)
12g.51913122G>ACA384897450ACVRL1c.127G>A (p.Gly43Ser)
c.85G>A (p.Gly29Ser)
c.103+587G>A (n.103+587G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51913122G>CCA384897452ACVRL1c.127G>C (p.Gly43Arg)
c.85G>C (p.Gly29Arg)
c.103+587G>C (n.103+587G>C)
12g.51913122G=CA2036266883ACVRL1c.127G= (p.Gly43=)
c.85G= (p.Gly29=)
c.103+587G= (n.103+587G=)
12g.51913122G>TCA384897453ACVRL1c.127G>T (p.Gly43Cys)
c.85G>T (p.Gly29Cys)
c.103+587G>T (n.103+587G>T)
 gnomAD v4
12g.51913123G>ACA384897458ACVRL1c.128G>A (p.Gly43Asp)
c.86G>A (p.Gly29Asp)
c.103+588G>A (n.103+588G>A)
 dbSNP gnomAD v4
12g.51913123G>CCA384897460ACVRL1c.128G>C (p.Gly43Ala)
c.86G>C (p.Gly29Ala)
c.103+588G>C (n.103+588G>C)
12g.51913123G=CA2036266884ACVRL1c.128G= (p.Gly43=)
c.86G= (p.Gly29=)
c.103+588G= (n.103+588G=)
12g.51913123G>TCA384897462ACVRL1c.128G>T (p.Gly43Val)
c.86G>T (p.Gly29Val)
c.103+588G>T (n.103+588G>T)
 gnomAD v4
12g.51913124C>ACA480063025ACVRL1c.129C>A (p.Gly43=)
c.87C>A (p.Gly29=)
c.103+589C>A (n.103+589C>A)
 dbSNP gnomAD v4
12g.51913124C=CA2036266887ACVRL1c.129C= (p.Gly43=)
c.87C= (p.Gly29=)
c.103+589C= (n.103+589C=)
12g.51913124C>GCA480063026ACVRL1c.129C>G (p.Gly43=)
c.87C>G (p.Gly29=)
c.103+589C>G (n.103+589C>G)
 dbSNP
12g.51913124C>TCA6572810ACVRL1c.129C>T (p.Gly43=)
c.87C>T (p.Gly29=)
c.103+589C>T (n.103+589C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913125C>ACA384897464ACVRL1c.130C>A (p.Pro44Thr)
c.88C>A (p.Pro30Thr)
c.103+590C>A (n.103+590C>A)
12g.51913125C=CA2036266888ACVRL1c.130C= (p.Pro44=)
c.88C= (p.Pro30=)
c.103+590C= (n.103+590C=)
12g.51913125C>GCA384897465ACVRL1c.130C>G (p.Pro44Ala)
c.88C>G (p.Pro30Ala)
c.103+590C>G (n.103+590C>G)
12g.51913125C>TCA211326ACVRL1c.130C>T (p.Pro44Ser)
c.88C>T (p.Pro30Ser)
c.103+590C>T (n.103+590C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51913126C>ACA384897467ACVRL1c.131C>A (p.Pro44Gln)
c.89C>A (p.Pro30Gln)
c.103+591C>A (n.103+591C>A)
 gnomAD v4
12g.51913126C=CA2036266892ACVRL1c.131C= (p.Pro44=)
c.89C= (p.Pro30=)
c.103+591C= (n.103+591C=)
12g.51913126C>GCA384897469ACVRL1c.131C>G (p.Pro44Arg)
c.89C>G (p.Pro30Arg)
c.103+591C>G (n.103+591C>G)
12g.51913126C>TCA6572811ACVRL1c.131C>T (p.Pro44Leu)
c.89C>T (p.Pro30Leu)
c.103+591C>T (n.103+591C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913127_51913139delCA2695216662ACVRL1c.132_144del (p.Leu45ArgfsTer19)
c.90_102del (p.Leu31ArgfsTer19)
c.103+592_103+604del (n.103+592_103+604del)
12g.51913127G>ACA6572812ACVRL1c.132G>A (p.Pro44=)
c.90G>A (p.Pro30=)
c.103+592G>A (n.103+592G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913127G>CCA6572813ACVRL1c.132G>C (p.Pro44=)
c.90G>C (p.Pro30=)
c.103+592G>C (n.103+592G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913127G=CA2036266897ACVRL1c.132G= (p.Pro44=)
c.90G= (p.Pro30=)
c.103+592G= (n.103+592G=)
12g.51913127G>TCA480063028ACVRL1c.132G>T (p.Pro44=)
c.90G>T (p.Pro30=)
c.103+592G>T (n.103+592G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51913128C>ACA384897473ACVRL1c.133C>A (p.Leu45Met)
c.91C>A (p.Leu31Met)
c.103+593C>A (n.103+593C>A)
12g.51913128C=CA2036266900ACVRL1c.133C= (p.Leu45=)
c.91C= (p.Leu31=)
c.103+593C= (n.103+593C=)
12g.51913128C>GCA384897474ACVRL1c.133C>G (p.Leu45Val)
c.91C>G (p.Leu31Val)
c.103+593C>G (n.103+593C>G)
12g.51913128C>TCA480063030ACVRL1c.133C>T (p.Leu45=)
c.91C>T (p.Leu31=)
c.103+593C>T (n.103+593C>T)
 dbSNP gnomAD v2
12g.51913129T>ACA384897476ACVRL1c.134T>A (p.Leu45Gln)
c.92T>A (p.Leu31Gln)
c.103+594T>A (n.103+594T>A)
12g.51913129T>CCA6572814ACVRL1c.134T>C (p.Leu45Pro)
c.92T>C (p.Leu31Pro)
c.103+594T>C (n.103+594T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913129T>GCA384897478ACVRL1c.134T>G (p.Leu45Arg)
c.92T>G (p.Leu31Arg)
c.103+594T>G (n.103+594T>G)
12g.51913129T=CA2036266902ACVRL1c.134T= (p.Leu45=)
c.92T= (p.Leu31=)
c.103+594T= (n.103+594T=)
12g.51913130G>ACA480063032ACVRL1c.135G>A (p.Leu45=)
c.93G>A (p.Leu31=)
c.103+595G>A (n.103+595G>A)
 gnomAD v4
12g.51913130G>CCA480063033ACVRL1c.135G>C (p.Leu45=)
c.93G>C (p.Leu31=)
c.103+595G>C (n.103+595G>C)
12g.51913130G>TCA480063034ACVRL1c.135G>T (p.Leu45=)
c.93G>T (p.Leu31=)
c.103+595G>T (n.103+595G>T)
12g.51913131G>ACA384897479ACVRL1c.136G>A (p.Val46Met)
c.94G>A (p.Val32Met)
c.103+596G>A (n.103+596G>A)
 dbSNP gnomAD v2
12g.51913131G>CCA384897481ACVRL1c.136G>C (p.Val46Leu)
c.94G>C (p.Val32Leu)
c.103+596G>C (n.103+596G>C)
12g.51913131G=CA2036266904ACVRL1c.136G= (p.Val46=)
c.94G= (p.Val32=)
c.103+596G= (n.103+596G=)
12g.51913131G>TCA384897483ACVRL1c.136G>T (p.Val46Leu)
c.94G>T (p.Val32Leu)
c.103+596G>T (n.103+596G>T)
12g.51913132T>ACA384897490ACVRL1c.137T>A (p.Val46Glu)
c.95T>A (p.Val32Glu)
c.103+597T>A (n.103+597T>A)
12g.51913132T>CCA384897486ACVRL1c.137T>C (p.Val46Ala)
c.95T>C (p.Val32Ala)
c.103+597T>C (n.103+597T>C)
12g.51913132T>GCA384897487ACVRL1c.137T>G (p.Val46Gly)
c.95T>G (p.Val32Gly)
c.103+597T>G (n.103+597T>G)
12g.51913133G>ACA480063037ACVRL1c.138G>A (p.Val46=)
c.96G>A (p.Val32=)
c.103+598G>A (n.103+598G>A)
12g.51913133G>CCA480063038ACVRL1c.138G>C (p.Val46=)
c.96G>C (p.Val32=)
c.103+598G>C (n.103+598G>C)
12g.51913133G>TCA480063039ACVRL1c.138G>T (p.Val46=)
c.96G>T (p.Val32=)
c.103+598G>T (n.103+598G>T)
12g.51913134A>CCA384897492ACVRL1c.139A>C (p.Thr47Pro)
c.97A>C (p.Thr33Pro)
c.103+599A>C (n.103+599A>C)
12g.51913134A>GCA384897494ACVRL1c.139A>G (p.Thr47Ala)
c.97A>G (p.Thr33Ala)
c.103+599A>G (n.103+599A>G)
12g.51913134A>TCA384897495ACVRL1c.139A>T (p.Thr47Ser)
c.97A>T (p.Thr33Ser)
c.103+599A>T (n.103+599A>T)
12g.51913135C>ACA384897497ACVRL1c.140C>A (p.Thr47Asn)
c.98C>A (p.Thr33Asn)
c.103+600C>A (n.103+600C>A)
 gnomAD v4
12g.51913135C=CA2036266907ACVRL1c.140C= (p.Thr47=)
c.98C= (p.Thr33=)
c.103+600C= (n.103+600C=)
12g.51913135C>GCA384897499ACVRL1c.140C>G (p.Thr47Ser)
c.98C>G (p.Thr33Ser)
c.103+600C>G (n.103+600C>G)
12g.51913135C>TCA384897501ACVRL1c.140C>T (p.Thr47Ile)
c.98C>T (p.Thr33Ile)
c.103+600C>T (n.103+600C>T)
 dbSNP gnomAD v4
12g.51913137_51913152delCA2695216663ACVRL1c.142_157del (p.Cys48HisfsTer15)
c.100_115del (p.Cys34HisfsTer15)
c.103+602_103+617del (n.103+602_103+617del)
12g.51913136C>ACA480063045ACVRL1c.141C>A (p.Thr47=)
c.99C>A (p.Thr33=)
c.103+601C>A (n.103+601C>A)
 gnomAD v4
12g.51913136C=CA2036266910ACVRL1c.141C= (p.Thr47=)
c.99C= (p.Thr33=)
c.103+601C= (n.103+601C=)
12g.51913136C>GCA480063047ACVRL1c.141C>G (p.Thr47=)
c.99C>G (p.Thr33=)
c.103+601C>G (n.103+601C>G)
 ClinVar
12g.51913136C>TCA480063048ACVRL1c.141C>T (p.Thr47=)
c.99C>T (p.Thr33=)
c.103+601C>T (n.103+601C>T)
12g.51913137T>ACA384897503ACVRL1c.142T>A (p.Cys48Ser)
c.100T>A (p.Cys34Ser)
c.103+602T>A (n.103+602T>A)
 ClinVar
12g.51913137T>CCA384897505ACVRL1c.142T>C (p.Cys48Arg)
c.100T>C (p.Cys34Arg)
c.103+602T>C (n.103+602T>C)
 ClinVar gnomAD v4
12g.51913137T>GCA384897507ACVRL1c.142T>G (p.Cys48Gly)
c.100T>G (p.Cys34Gly)
c.103+602T>G (n.103+602T>G)
12g.51913137dupCA658653654ACVRL1c.142dup (p.Cys48LeufsTer4)
c.100dup (p.Cys34LeufsTer4)
c.103+602dup (n.103+602dup)
 ClinVar dbSNP
12g.51913138G>ACA384897509ACVRL1c.143G>A (p.Cys48Tyr)
c.101G>A (p.Cys34Tyr)
c.103+603G>A (n.103+603G>A)
 ClinVar
12g.51913138G>CCA384897510ACVRL1c.143G>C (p.Cys48Ser)
c.101G>C (p.Cys34Ser)
c.103+603G>C (n.103+603G>C)
12g.51913138G>TCA384897512ACVRL1c.143G>T (p.Cys48Phe)
c.101G>T (p.Cys34Phe)
c.103+603G>T (n.103+603G>T)
 gnomAD v4
12g.51913139C>ACA384897514ACVRL1c.144C>A (p.Cys48Ter)
c.102C>A (p.Cys34Ter)
c.103+604C>A (n.103+604C>A)
 ClinVar dbSNP gnomAD v4
12g.51913139C=CA2036266917ACVRL1c.144C= (p.Cys48=)
c.102C= (p.Cys34=)
c.103+604C= (n.103+604C=)
12g.51913139C>GCA384897515ACVRL1c.144C>G (p.Cys48Trp)
c.102C>G (p.Cys34Trp)
c.103+604C>G (n.103+604C>G)
 dbSNP gnomAD v2
12g.51913139C>TCA480063049ACVRL1c.144C>T (p.Cys48=)
c.102C>T (p.Cys34=)
c.103+604C>T (n.103+604C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51913140A>CCA384897518ACVRL1c.145A>C (p.Thr49Pro)
c.103A>C (p.Thr35Pro)
c.103+605A>C (n.103+605A>C)
12g.51913140A>GCA384897524ACVRL1c.145A>G (p.Thr49Ala)
c.103A>G (p.Thr35Ala)
c.103+605A>G (n.103+605A>G)
 gnomAD v4
12g.51913140A>TCA384897522ACVRL1c.145A>T (p.Thr49Ser)
c.103A>T (p.Thr35Ser)
c.103+605A>T (n.103+605A>T)
12g.51913141C>ACA384897526ACVRL1c.146C>A (p.Thr49Lys)
c.104C>A (p.Thr35Lys)
c.103+606C>A (n.103+606C>A)
 gnomAD v4 COSMIC
12g.51913141C=CA2036266921ACVRL1c.146C= (p.Thr49=)
c.104C= (p.Thr35=)
c.103+606C= (n.103+606C=)
12g.51913141C>GCA384897528ACVRL1c.146C>G (p.Thr49Arg)
c.104C>G (p.Thr35Arg)
c.103+606C>G (n.103+606C>G)
12g.51913141C>TCA6572815ACVRL1c.146C>T (p.Thr49Met)
c.104C>T (p.Thr35Met)
c.103+606C>T (n.103+606C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913141_51913142delinsCGCA2036266922ACVRL1c.146_147delinsCG (p.Thr49=)
c.104_105delinsCG (p.Thr35=)
c.103+606_103+607delinsCG (n.103+606_103+607delinsCG)
12g.51913142delCA658683789ACVRL1c.147del (p.Cys50ValfsTer18)
c.105del (p.Cys36ValfsTer18)
c.103+607del (n.103+607del)
 ClinVar dbSNP
12g.51913142G>ACA6572816ACVRL1c.147G>A (p.Thr49=)
c.105G>A (p.Thr35=)
c.103+607G>A (n.103+607G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913142G>CCA480063053ACVRL1c.147G>C (p.Thr49=)
c.105G>C (p.Thr35=)
c.103+607G>C (n.103+607G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51913142G=CA2036266924ACVRL1c.147G= (p.Thr49=)
c.105G= (p.Thr35=)
c.103+607G= (n.103+607G=)
12g.51913142G>TCA480063054ACVRL1c.147G>T (p.Thr49=)
c.105G>T (p.Thr35=)
c.103+607G>T (n.103+607G>T)
12g.51913143T>ACA384897532ACVRL1c.148T>A (p.Cys50Ser)
c.106T>A (p.Cys36Ser)
c.103+608T>A (n.103+608T>A)
12g.51913143T>CCA384897534ACVRL1c.148T>C (p.Cys50Arg)
c.106T>C (p.Cys36Arg)
c.103+608T>C (n.103+608T>C)
 ClinVar dbSNP
12g.51913143T>GCA384897536ACVRL1c.148T>G (p.Cys50Gly)
c.106T>G (p.Cys36Gly)
c.103+608T>G (n.103+608T>G)
12g.51913144G>ACA384897542ACVRL1c.149G>A (p.Cys50Tyr)
c.107G>A (p.Cys36Tyr)
c.103+609G>A (n.103+609G>A)
 ClinVar gnomAD v4 COSMIC COSMIC
12g.51913144G>CCA384897539ACVRL1c.149G>C (p.Cys50Ser)
c.107G>C (p.Cys36Ser)
c.103+609G>C (n.103+609G>C)
12g.51913144G>TCA384897540ACVRL1c.149G>T (p.Cys50Phe)
c.107G>T (p.Cys36Phe)
c.103+609G>T (n.103+609G>T)
 gnomAD v4
12g.51913145T>ACA384897544ACVRL1c.150T>A (p.Cys50Ter)
c.108T>A (p.Cys36Ter)
c.103+610T>A (n.103+610T>A)
12g.51913145T>CCA480063058ACVRL1c.150T>C (p.Cys50=)
c.108T>C (p.Cys36=)
c.103+610T>C (n.103+610T>C)
12g.51913145T>GCA384897546ACVRL1c.150T>G (p.Cys50Trp)
c.108T>G (p.Cys36Trp)
c.103+610T>G (n.103+610T>G)
12g.51913146G>ACA384897549ACVRL1c.151G>A (p.Glu51Lys)
c.109G>A (p.Glu37Lys)
c.103+611G>A (n.103+611G>A)
12g.51913146G>CCA384897550ACVRL1c.151G>C (p.Glu51Gln)
c.109G>C (p.Glu37Gln)
c.103+611G>C (n.103+611G>C)
12g.51913146G>TCA384897552ACVRL1c.151G>T (p.Glu51Ter)
c.109G>T (p.Glu37Ter)
c.103+611G>T (n.103+611G>T)
12g.51913147A>CCA384897554ACVRL1c.152A>C (p.Glu51Ala)
c.110A>C (p.Glu37Ala)
c.103+612A>C (n.103+612A>C)
12g.51913147A>GCA384897556ACVRL1c.152A>G (p.Glu51Gly)
c.110A>G (p.Glu37Gly)
c.103+612A>G (n.103+612A>G)
12g.51913147A>TCA384897555ACVRL1c.152A>T (p.Glu51Val)
c.110A>T (p.Glu37Val)
c.103+612A>T (n.103+612A>T)
12g.51913148G>ACA6572817ACVRL1c.153G>A (p.Glu51=)
c.111G>A (p.Glu37=)
c.103+613G>A (n.103+613G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913148G>CCA384897557ACVRL1c.153G>C (p.Glu51Asp)
c.111G>C (p.Glu37Asp)
c.103+613G>C (n.103+613G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51913148G=CA2036266926ACVRL1c.153G= (p.Glu51=)
c.111G= (p.Glu37=)
c.103+613G= (n.103+613G=)
12g.51913148G>TCA384897558ACVRL1c.153G>T (p.Glu51Asp)
c.111G>T (p.Glu37Asp)
c.103+613G>T (n.103+613G>T)
12g.51913149A>CCA384897559ACVRL1c.154A>C (p.Ser52Arg)
c.112A>C (p.Ser38Arg)
c.103+614A>C (n.103+614A>C)
12g.51913149A>GCA384897560ACVRL1c.154A>G (p.Ser52Gly)
c.112A>G (p.Ser38Gly)
c.103+614A>G (n.103+614A>G)
12g.51913149A>TCA384897561ACVRL1c.154A>T (p.Ser52Cys)
c.112A>T (p.Ser38Cys)
c.103+614A>T (n.103+614A>T)
 ClinVar
12g.51913150G>ACA384897562ACVRL1c.155G>A (p.Ser52Asn)
c.113G>A (p.Ser38Asn)
c.103+615G>A (n.103+615G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51913150G>CCA384897563ACVRL1c.155G>C (p.Ser52Thr)
c.113G>C (p.Ser38Thr)
c.103+615G>C (n.103+615G>C)
12g.51913150G=CA2036266927ACVRL1c.155G= (p.Ser52=)
c.113G= (p.Ser38=)
c.103+615G= (n.103+615G=)
12g.51913150G>TCA384897565ACVRL1c.155G>T (p.Ser52Ile)
c.113G>T (p.Ser38Ile)
c.103+615G>T (n.103+615G>T)
 gnomAD v4
12g.51913151C>ACA384897568ACVRL1c.156C>A (p.Ser52Arg)
c.114C>A (p.Ser38Arg)
c.103+616C>A (n.103+616C>A)
 gnomAD v4
12g.51913151C>GCA384897569ACVRL1c.156C>G (p.Ser52Arg)
c.114C>G (p.Ser38Arg)
c.103+616C>G (n.103+616C>G)
12g.51913151C>TCA480063062ACVRL1c.156C>T (p.Ser52=)
c.114C>T (p.Ser38=)
c.103+616C>T (n.103+616C>T)
 gnomAD v4
12g.51913152_51913153delCA2499221743ACVRL1c.157_158del (p.Pro53ThrfsTer?)
c.115_116del (p.Pro39ThrfsTer?)
c.103+617_103+618del (n.103+617_103+618del)
 ClinVar dbSNP
12g.51913152_51913155dupCA2695216664ACVRL1c.157_160dup (p.His54ProfsTer?)
c.115_118dup (p.His40ProfsTer?)
c.103+617_103+620dup (n.103+617_103+620dup)
12g.51913152C>ACA384897571ACVRL1c.157C>A (p.Pro53Thr)
c.115C>A (p.Pro39Thr)
c.103+617C>A (n.103+617C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51913152C=CA2036266930ACVRL1c.157C= (p.Pro53=)
c.115C= (p.Pro39=)
c.103+617C= (n.103+617C=)
12g.51913152C>GCA384897575ACVRL1c.157C>G (p.Pro53Ala)
c.115C>G (p.Pro39Ala)
c.103+617C>G (n.103+617C>G)
12g.51913152C>TCA384897573ACVRL1c.157C>T (p.Pro53Ser)
c.115C>T (p.Pro39Ser)
c.103+617C>T (n.103+617C>T)
 gnomAD v4
12g.51913153C>ACA384897577ACVRL1c.158C>A (p.Pro53Gln)
c.116C>A (p.Pro39Gln)
c.103+618C>A (n.103+618C>A)
12g.51913153C=CA2036266931ACVRL1c.158C= (p.Pro53=)
c.116C= (p.Pro39=)
c.103+618C= (n.103+618C=)
12g.51913153C>GCA384897579ACVRL1c.158C>G (p.Pro53Arg)
c.116C>G (p.Pro39Arg)
c.103+618C>G (n.103+618C>G)
 gnomAD v4
12g.51913153C>TCA384897581ACVRL1c.158C>T (p.Pro53Leu)
c.116C>T (p.Pro39Leu)
c.103+618C>T (n.103+618C>T)
 dbSNP gnomAD v2
12g.51913154A>CCA480063066ACVRL1c.159A>C (p.Pro53=)
c.117A>C (p.Pro39=)
c.103+619A>C (n.103+619A>C)
12g.51913154A>GCA480063068ACVRL1c.159A>G (p.Pro53=)
c.117A>G (p.Pro39=)
c.103+619A>G (n.103+619A>G)
12g.51913154A>TCA480063067ACVRL1c.159A>T (p.Pro53=)
c.117A>T (p.Pro39=)
c.103+619A>T (n.103+619A>T)
12g.51913155C>ACA384897582ACVRL1c.160C>A (p.His54Asn)
c.118C>A (p.His40Asn)
c.103+620C>A (n.103+620C>A)
12g.51913155C>GCA384897584ACVRL1c.160C>G (p.His54Asp)
c.118C>G (p.His40Asp)
c.103+620C>G (n.103+620C>G)
12g.51913155C>TCA384897586ACVRL1c.160C>T (p.His54Tyr)
c.118C>T (p.His40Tyr)
c.103+620C>T (n.103+620C>T)
 gnomAD v4
12g.51913156A=CA2036266933ACVRL1c.161A= (p.His54=)
c.119A= (p.His40=)
c.103+621A= (n.103+621A=)
12g.51913156A>CCA384897588ACVRL1c.161A>C (p.His54Pro)
c.119A>C (p.His40Pro)
c.103+621A>C (n.103+621A>C)
12g.51913156A>GCA384897590ACVRL1c.161A>G (p.His54Arg)
c.119A>G (p.His40Arg)
c.103+621A>G (n.103+621A>G)
12g.51913156A>TCA384897594ACVRL1c.161A>T (p.His54Leu)
c.119A>T (p.His40Leu)
c.103+621A>T (n.103+621A>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51913157T>ACA384897596ACVRL1c.162T>A (p.His54Gln)
c.120T>A (p.His40Gln)
c.103+622T>A (n.103+622T>A)
12g.51913157T>CCA6572818ACVRL1c.162T>C (p.His54=)
c.120T>C (p.His40=)
c.103+622T>C (n.103+622T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913157T>GCA384897599ACVRL1c.162T>G (p.His54Gln)
c.120T>G (p.His40Gln)
c.103+622T>G (n.103+622T>G)
12g.51913157T=CA2036266934ACVRL1c.162T= (p.His54=)
c.120T= (p.His40=)
c.103+622T= (n.103+622T=)
12g.51913158T>ACA384897603ACVRL1c.163T>A (p.Cys55Ser)
c.121T>A (p.Cys41Ser)
c.103+623T>A (n.103+623T>A)
12g.51913158T>CCA384897601ACVRL1c.163T>C (p.Cys55Arg)
c.121T>C (p.Cys41Arg)
c.103+623T>C (n.103+623T>C)
 COSMIC COSMIC
12g.51913158T>GCA384897602ACVRL1c.163T>G (p.Cys55Gly)
c.121T>G (p.Cys41Gly)
c.103+623T>G (n.103+623T>G)
 ClinVar dbSNP
12g.51913161_51913175delCA2573148772ACVRL1c.166_180del (p.Lys56_Cys60del)
c.124_138del (p.Lys42_Cys46del)
c.103+626_103+640del (n.103+626_103+640del)
 ClinVar dbSNP
12g.51913159G>ACA384897604ACVRL1c.164G>A (p.Cys55Tyr)
c.122G>A (p.Cys41Tyr)
c.103+624G>A (n.103+624G>A)
 ClinVar dbSNP gnomAD v2
12g.51913159G>CCA384897606ACVRL1c.164G>C (p.Cys55Ser)
c.122G>C (p.Cys41Ser)
c.103+624G>C (n.103+624G>C)
12g.51913159G=CA2036266937ACVRL1c.164G= (p.Cys55=)
c.122G= (p.Cys41=)
c.103+624G= (n.103+624G=)
12g.51913159G>TCA384897608ACVRL1c.164G>T (p.Cys55Phe)
c.122G>T (p.Cys41Phe)
c.103+624G>T (n.103+624G>T)
 gnomAD v4
12g.51913160C>ACA384897609ACVRL1c.165C>A (p.Cys55Ter)
c.123C>A (p.Cys41Ter)
c.103+625C>A (n.103+625C>A)
 gnomAD v4
12g.51913160C>GCA384897610ACVRL1c.165C>G (p.Cys55Trp)
c.123C>G (p.Cys41Trp)
c.103+625C>G (n.103+625C>G)
12g.51913160C>TCA480063075ACVRL1c.165C>T (p.Cys55=)
c.123C>T (p.Cys41=)
c.103+625C>T (n.103+625C>T)
12g.51913161A=CA2036266941ACVRL1c.166A= (p.Lys56=)
c.124A= (p.Lys42=)
c.103+626A= (n.103+626A=)
12g.51913161A>CCA384897613ACVRL1c.166A>C (p.Lys56Gln)
c.124A>C (p.Lys42Gln)
c.103+626A>C (n.103+626A>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51913161A>GCA384897615ACVRL1c.166A>G (p.Lys56Glu)
c.124A>G (p.Lys42Glu)
c.103+626A>G (n.103+626A>G)
12g.51913161A>TCA384897618ACVRL1c.166A>T (p.Lys56Ter)
c.124A>T (p.Lys42Ter)
c.103+626A>T (n.103+626A>T)
12g.51913162A=CA2036266943ACVRL1c.167A= (p.Lys56=)
c.125A= (p.Lys42=)
c.103+627A= (n.103+627A=)
12g.51913162A>CCA384897621ACVRL1c.167A>C (p.Lys56Thr)
c.125A>C (p.Lys42Thr)
c.103+627A>C (n.103+627A>C)
12g.51913162A>GCA384897623ACVRL1c.167A>G (p.Lys56Arg)
c.125A>G (p.Lys42Arg)
c.103+627A>G (n.103+627A>G)
12g.51913162A>TCA384897624ACVRL1c.167A>T (p.Lys56Met)
c.125A>T (p.Lys42Met)
c.103+627A>T (n.103+627A>T)
 gnomAD v4
12g.51913163G>ACA480063079ACVRL1c.168G>A (p.Lys56=)
c.126G>A (p.Lys42=)
c.103+628G>A (n.103+628G>A)
 gnomAD v4 COSMIC COSMIC
12g.51913163G>CCA384897627ACVRL1c.168G>C (p.Lys56Asn)
c.126G>C (p.Lys42Asn)
c.103+628G>C (n.103+628G>C)
12g.51913163G>TCA384897625ACVRL1c.168G>T (p.Lys56Asn)
c.126G>T (p.Lys42Asn)
c.103+628G>T (n.103+628G>T)
 gnomAD v4
12g.51913166dupCA1139662693ACVRL1c.171dup (p.Pro58AlafsTer?)
c.129dup (p.Pro44AlafsTer?)
c.103+631dup (n.103+631dup)
 ClinVar dbSNP
12g.51913167_51913180delCA2573148773ACVRL1c.172_185del (p.Pro58GlyfsTer?)
c.130_143del (p.Pro44GlyfsTer?)
c.103+632_103+645del (n.103+632_103+645del)
 ClinVar dbSNP
12g.51913170_51913185delCA2580086428ACVRL1c.175_190del (p.Thr59GlyfsTer4)
c.133_148del (p.Thr45GlyfsTer4)
c.103+635_103+650del (n.103+635_103+650del)
 ClinVar
12g.51913164G>ACA6572819ACVRL1c.169G>A (p.Gly57Arg)
c.127G>A (p.Gly43Arg)
c.103+629G>A (n.103+629G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913164G>CCA384897630ACVRL1c.169G>C (p.Gly57Arg)
c.127G>C (p.Gly43Arg)
c.103+629G>C (n.103+629G>C)
 dbSNP gnomAD v3 gnomAD v4
12g.51913164G=CA2036266953ACVRL1c.169G= (p.Gly57=)
c.127G= (p.Gly43=)
c.103+629G= (n.103+629G=)
12g.51913164G>TCA384897632ACVRL1c.169G>T (p.Gly57Trp)
c.127G>T (p.Gly43Trp)
c.103+629G>T (n.103+629G>T)
 gnomAD v4
12g.51913165G>ACA384897634ACVRL1c.170G>A (p.Gly57Glu)
c.128G>A (p.Gly43Glu)
c.103+630G>A (n.103+630G>A)
12g.51913165G>CCA384897635ACVRL1c.170G>C (p.Gly57Ala)
c.128G>C (p.Gly43Ala)
c.103+630G>C (n.103+630G>C)
12g.51913165G=CA2036266954ACVRL1c.170G= (p.Gly57=)
c.128G= (p.Gly43=)
c.103+630G= (n.103+630G=)
12g.51913165G>TCA384897636ACVRL1c.170G>T (p.Gly57Val)
c.128G>T (p.Gly43Val)
c.103+630G>T (n.103+630G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51913165_51913169delCA2580086429ACVRL1c.170_174del (p.Gly57AspfsTer?)
c.128_132del (p.Gly43AspfsTer?)
c.103+630_103+634del (n.103+630_103+634del)
 ClinVar
12g.51913166G>ACA480063085ACVRL1c.171G>A (p.Gly57=)
c.129G>A (p.Gly43=)
c.103+631G>A (n.103+631G>A)
 gnomAD v4
12g.51913166G>CCA480063086ACVRL1c.171G>C (p.Gly57=)
c.129G>C (p.Gly43=)
c.103+631G>C (n.103+631G>C)
12g.51913166G>TCA480063087ACVRL1c.171G>T (p.Gly57=)
c.129G>T (p.Gly43=)
c.103+631G>T (n.103+631G>T)
 gnomAD v4
12g.51913167C>ACA384897639ACVRL1c.172C>A (p.Pro58Thr)
c.130C>A (p.Pro44Thr)
c.103+632C>A (n.103+632C>A)
 gnomAD v4
12g.51913167C=CA2036266956ACVRL1c.172C= (p.Pro58=)
c.130C= (p.Pro44=)
c.103+632C= (n.103+632C=)
12g.51913167C>GCA384897638ACVRL1c.172C>G (p.Pro58Ala)
c.130C>G (p.Pro44Ala)
c.103+632C>G (n.103+632C>G)
12g.51913167C>TCA6572820ACVRL1c.172C>T (p.Pro58Ser)
c.130C>T (p.Pro44Ser)
c.103+632C>T (n.103+632C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913167_51913183delinsTGCACAGTAGTGCA2580086430ACVRL1c.172_188delinsTGCACAGTAGTG (p.Pro58CysfsTer?)
c.130_146delinsTGCACAGTAGTG (p.Pro44CysfsTer?)
c.103+632_103+648delinsTGCACAGTAGTG (n.103+632_103+648delinsTGCACAGTAGTG)
 ClinVar
12g.51913168C>ACA384897641ACVRL1c.173C>A (p.Pro58His)
c.131C>A (p.Pro44His)
c.103+633C>A (n.103+633C>A)
 gnomAD v4 COSMIC COSMIC
12g.51913168C=CA2036266960ACVRL1c.173C= (p.Pro58=)
c.131C= (p.Pro44=)
c.103+633C= (n.103+633C=)
12g.51913168C>GCA384897643ACVRL1c.173C>G (p.Pro58Arg)
c.131C>G (p.Pro44Arg)
c.103+633C>G (n.103+633C>G)
12g.51913168C>TCA384897645ACVRL1c.173C>T (p.Pro58Leu)
c.131C>T (p.Pro44Leu)
c.103+633C>T (n.103+633C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51913168_51913169insCACACA2499221744ACVRL1c.173_174insCACA (p.Cys60TyrfsTer?)
c.131_132insCACA (p.Cys46TyrfsTer?)
c.103+633_103+634insCACA (n.103+633_103+634insCACA)
 ClinVar dbSNP
12g.51913169T>ACA480063090ACVRL1c.174T>A (p.Pro58=)
c.132T>A (p.Pro44=)
c.103+634T>A (n.103+634T>A)
12g.51913169T>CCA480063091ACVRL1c.174T>C (p.Pro58=)
c.132T>C (p.Pro44=)
c.103+634T>C (n.103+634T>C)
 gnomAD v4
12g.51913169T>GCA480063089ACVRL1c.174T>G (p.Pro58=)
c.132T>G (p.Pro44=)
c.103+634T>G (n.103+634T>G)
12g.51913169delinsCACATTGCAAGGTGCAAGGGTGCCA2580086432ACVRL1c.174delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys60LeufsTer?)
c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46LeufsTer?)
c.103+634delinsCACATTGCAAGGTGCAAGGGTGC (n.103+634delinsCACATTGCAAGGTGCAAGGGTGC)
 ClinVar
12g.51913170A>CCA384897648ACVRL1c.175A>C (p.Thr59Pro)
c.133A>C (p.Thr45Pro)
c.103+635A>C (n.103+635A>C)
12g.51913170A>GCA384897650ACVRL1c.175A>G (p.Thr59Ala)
c.133A>G (p.Thr45Ala)
c.103+635A>G (n.103+635A>G)
12g.51913170A>TCA384897651ACVRL1c.175A>T (p.Thr59Ser)
c.133A>T (p.Thr45Ser)
c.103+635A>T (n.103+635A>T)
12g.51913171C>ACA384897655ACVRL1c.176C>A (p.Thr59Asn)
c.134C>A (p.Thr45Asn)
c.103+636C>A (n.103+636C>A)
 COSMIC COSMIC
12g.51913171C=CA2036266961ACVRL1c.176C= (p.Thr59=)
c.134C= (p.Thr45=)
c.103+636C= (n.103+636C=)
12g.51913171C>GCA384897653ACVRL1c.176C>G (p.Thr59Ser)
c.134C>G (p.Thr45Ser)
c.103+636C>G (n.103+636C>G)
12g.51913171C>TCA6572821ACVRL1c.176C>T (p.Thr59Ile)
c.134C>T (p.Thr45Ile)
c.103+636C>T (n.103+636C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51913172C>ACA480063092ACVRL1c.177C>A (p.Thr59=)
c.135C>A (p.Thr45=)
c.103+637C>A (n.103+637C>A)
12g.51913172C>GCA480063093ACVRL1c.177C>G (p.Thr59=)
c.135C>G (p.Thr45=)
c.103+637C>G (n.103+637C>G)
12g.51913172C>TCA480063095ACVRL1c.177C>T (p.Thr59=)
c.135C>T (p.Thr45=)
c.103+637C>T (n.103+637C>T)
12g.51913173T>ACA384897657ACVRL1c.178T>A (p.Cys60Ser)
c.136T>A (p.Cys46Ser)
c.103+638T>A (n.103+638T>A)
12g.51913173T>CCA384897660ACVRL1c.178T>C (p.Cys60Arg)
c.136T>C (p.Cys46Arg)
c.103+638T>C (n.103+638T>C)
12g.51913173T>GCA384897661ACVRL1c.178T>G (p.Cys60Gly)
c.136T>G (p.Cys46Gly)
c.103+638T>G (n.103+638T>G)
12g.51913173_51913174delinsCTCA2695216665ACVRL1c.178_179delinsCT (p.Cys60Leu)
c.136_137delinsCT (p.Cys46Leu)
c.103+638_103+639delinsCT (n.103+638_103+639delinsCT)
12g.51913174G>ACA384897662ACVRL1c.179G>A (p.Cys60Tyr)
c.137G>A (p.Cys46Tyr)
c.103+639G>A (n.103+639G>A)
12g.51913174G>CCA384897664ACVRL1c.179G>C (p.Cys60Ser)
c.137G>C (p.Cys46Ser)
c.103+639G>C (n.103+639G>C)
 ClinVar dbSNP
12g.51913174G=CA2036266964ACVRL1c.179G= (p.Cys60=)
c.137G= (p.Cys46=)
c.103+639G= (n.103+639G=)
12g.51913174G>TCA384897666ACVRL1c.179G>T (p.Cys60Phe)
c.137G>T (p.Cys46Phe)
c.103+639G>T (n.103+639G>T)
 gnomAD v4
12g.51913175C>ACA384897668ACVRL1c.180C>A (p.Cys60Ter)
c.138C>A (p.Cys46Ter)
c.103+640C>A (n.103+640C>A)
12g.51913175C>GCA384897670ACVRL1c.180C>G (p.Cys60Trp)
c.138C>G (p.Cys46Trp)
c.103+640C>G (n.103+640C>G)
12g.51913175C>TCA480063098ACVRL1c.180C>T (p.Cys60=)
c.138C>T (p.Cys46=)
c.103+640C>T (n.103+640C>T)
12g.51913176dupCA1139662694ACVRL1c.181dup (p.Arg61ProfsTer?)
c.139dup (p.Arg47ProfsTer?)
c.103+641dup (n.103+641dup)
 ClinVar dbSNP
12g.51913176C>ACA480063099ACVRL1c.181C>A (p.Arg61=)
c.139C>A (p.Arg47=)
c.103+641C>A (n.103+641C>A)
 gnomAD v4
12g.51913176C=CA2036266969ACVRL1c.181C= (p.Arg61=)
c.139C= (p.Arg47=)
c.103+641C= (n.103+641C=)
12g.51913176C>GCA384897671ACVRL1c.181C>G (p.Arg61Gly)
c.139C>G (p.Arg47Gly)
c.103+641C>G (n.103+641C>G)
 dbSNP
12g.51913176C>TCA6572822ACVRL1c.181C>T (p.Arg61Trp)
c.139C>T (p.Arg47Trp)
c.103+641C>T (n.103+641C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51913176_51913177delinsCGCA2036266970ACVRL1c.181_182delinsCG (p.Arg61=)
c.139_140delinsCG (p.Arg47=)
c.103+641_103+642delinsCG (n.103+641_103+642delinsCG)
12g.51913176_51913177insCGCA658797915ACVRL1c.181_182insCG (p.Arg61ProfsTer8)
c.139_140insCG (p.Arg47ProfsTer8)
c.103+641_103+642insCG (n.103+641_103+642insCG)
 ClinVar dbSNP
12g.51913177G>ACA6572823ACVRL1c.182G>A (p.Arg61Gln)
c.140G>A (p.Arg47Gln)
c.103+642G>A (n.103+642G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51913177G>CCA16607361ACVRL1c.182G>C (p.Arg61Pro)
c.140G>C (p.Arg47Pro)
c.103+642G>C (n.103+642G>C)
 ClinVar dbSNP gnomAD v4
12g.51913177G=CA2036266983ACVRL1c.182G= (p.Arg61=)
c.140G= (p.Arg47=)
c.103+642G= (n.103+642G=)
12g.51913177G>TCA384897675ACVRL1c.182G>T (p.Arg61Leu)
c.140G>T (p.Arg47Leu)
c.103+642G>T (n.103+642G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51913182dupCA319771ACVRL1c.187dup (p.Ala63GlyfsTer?)
c.145dup (p.Ala49GlyfsTer?)
c.103+647dup (n.103+647dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51913182delCA891843493ACVRL1c.187del (p.Ala63ProfsTer5)
c.145del (p.Ala49ProfsTer5)
c.103+647del (n.103+647del)
 ClinVar dbSNP gnomAD v4
12g.51913178G>ACA480063101ACVRL1c.183G>A (p.Arg61=)
c.141G>A (p.Arg47=)
c.103+643G>A (n.103+643G>A)
 gnomAD v4
12g.51913178G>CCA480063102ACVRL1c.183G>C (p.Arg61=)
c.141G>C (p.Arg47=)
c.103+643G>C (n.103+643G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51913178G=CA2036266987ACVRL1c.183G= (p.Arg61=)
c.141G= (p.Arg47=)
c.103+643G= (n.103+643G=)
12g.51913178G>TCA480063103ACVRL1c.183G>T (p.Arg61=)
c.141G>T (p.Arg47=)
c.103+643G>T (n.103+643G>T)
 gnomAD v4 COSMIC COSMIC
12g.51913179G>ACA384897677ACVRL1c.184G>A (p.Gly62Arg)
c.142G>A (p.Gly48Arg)
c.103+644G>A (n.103+644G>A)
 ClinVar dbSNP
12g.51913179G>CCA384897681ACVRL1c.184G>C (p.Gly62Arg)
c.142G>C (p.Gly48Arg)
c.103+644G>C (n.103+644G>C)
12g.51913179G>TCA384897679ACVRL1c.184G>T (p.Gly62Trp)
c.142G>T (p.Gly48Trp)
c.103+644G>T (n.103+644G>T)
12g.51913180G>ACA270765ACVRL1c.185G>A (p.Gly62Glu)
c.143G>A (p.Gly48Glu)
c.103+645G>A (n.103+645G>A)
 ClinVar dbSNP
12g.51913180G>CCA384897684ACVRL1c.185G>C (p.Gly62Ala)
c.143G>C (p.Gly48Ala)
c.103+645G>C (n.103+645G>C)
12g.51913180G=CA2036266991ACVRL1c.185G= (p.Gly62=)
c.143G= (p.Gly48=)
c.103+645G= (n.103+645G=)
12g.51913180G>TCA384897686ACVRL1c.185G>T (p.Gly62Val)
c.143G>T (p.Gly48Val)
c.103+645G>T (n.103+645G>T)
 gnomAD v4
12g.51913180_51913184delinsAGCCTCA254375ACVRL1c.185_189delinsAGCCT (p.Gly62_Ala63delinsGluPro)
c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)
c.103+645_103+649delinsAGCCT (n.103+645_103+649delinsAGCCT)
 ClinVar dbSNP
12g.51913180_51913184delinsGGGCCCA2036266993ACVRL1c.185_189delinsGGGCC (p.Gly62=)
c.143_147delinsGGGCC (p.Gly48=)
c.103+645_103+649delinsGGGCC (n.103+645_103+649delinsGGGCC)
12g.51913181G>ACA480063105ACVRL1c.186G>A (p.Gly62=)
c.144G>A (p.Gly48=)
c.103+646G>A (n.103+646G>A)
 dbSNP gnomAD v2
12g.51913181G>CCA480063106ACVRL1c.186G>C (p.Gly62=)
c.144G>C (p.Gly48=)
c.103+646G>C (n.103+646G>C)
12g.51913181G=CA2036266998ACVRL1c.186G= (p.Gly62=)
c.144G= (p.Gly48=)
c.103+646G= (n.103+646G=)
12g.51913181G>TCA480063107ACVRL1c.186G>T (p.Gly62=)
c.144G>T (p.Gly48=)
c.103+646G>T (n.103+646G>T)
 gnomAD v4
12g.51913182G>ACA6572824ACVRL1c.187G>A (p.Ala63Thr)
c.145G>A (p.Ala49Thr)
c.103+647G>A (n.103+647G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913182G>CCA270762ACVRL1c.187G>C (p.Ala63Pro)
c.145G>C (p.Ala49Pro)
c.103+647G>C (n.103+647G>C)
 ClinVar dbSNP
12g.51913182G=CA2036267000ACVRL1c.187G= (p.Ala63=)
c.145G= (p.Ala49=)
c.103+647G= (n.103+647G=)
12g.51913182G>TCA384897690ACVRL1c.187G>T (p.Ala63Ser)
c.145G>T (p.Ala49Ser)
c.103+647G>T (n.103+647G>T)
 gnomAD v4
12g.51913183C>ACA384897693ACVRL1c.188C>A (p.Ala63Asp)
c.146C>A (p.Ala49Asp)
c.103+648C>A (n.103+648C>A)
 gnomAD v4
12g.51913183C=CA2036267003ACVRL1c.188C= (p.Ala63=)
c.146C= (p.Ala49=)
c.103+648C= (n.103+648C=)
12g.51913183C>GCA384897695ACVRL1c.188C>G (p.Ala63Gly)
c.146C>G (p.Ala49Gly)
c.103+648C>G (n.103+648C>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51913183C>TCA384897696ACVRL1c.188C>T (p.Ala63Val)
c.146C>T (p.Ala49Val)
c.103+648C>T (n.103+648C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51913184delCA2695216668ACVRL1c.189del (p.Trp64GlyfsTer4)
c.147del (p.Trp50GlyfsTer4)
c.103+649del (n.103+649del)
12g.51913184C>ACA480063108ACVRL1c.189C>A (p.Ala63=)
c.147C>A (p.Ala49=)
c.103+649C>A (n.103+649C>A)
12g.51913184C>GCA480063109ACVRL1c.189C>G (p.Ala63=)
c.147C>G (p.Ala49=)
c.103+649C>G (n.103+649C>G)
12g.51913184C>TCA480063111ACVRL1c.189C>T (p.Ala63=)
c.147C>T (p.Ala49=)
c.103+649C>T (n.103+649C>T)
12g.51913185T>ACA384897698ACVRL1c.190T>A (p.Trp64Arg)
c.148T>A (p.Trp50Arg)
c.103+650T>A (n.103+650T>A)
12g.51913185T>CCA384897700ACVRL1c.190T>C (p.Trp64Arg)
c.148T>C (p.Trp50Arg)
c.103+650T>C (n.103+650T>C)
 ClinVar dbSNP gnomAD v4
12g.51913185T>GCA384897704ACVRL1c.190T>G (p.Trp64Gly)
c.148T>G (p.Trp50Gly)
c.103+650T>G (n.103+650T>G)
 ClinVar dbSNP
12g.51913185T=CA2036267006ACVRL1c.190T= (p.Trp64=)
c.148T= (p.Trp50=)
c.103+650T= (n.103+650T=)
12g.51913186G>ACA384897708ACVRL1c.191G>A (p.Trp64Ter)
c.149G>A (p.Trp50Ter)
c.103+651G>A (n.103+651G>A)
 gnomAD v4
12g.51913186G>CCA384897705ACVRL1c.191G>C (p.Trp64Ser)
c.149G>C (p.Trp50Ser)
c.103+651G>C (n.103+651G>C)
12g.51913186G=CA2036267009ACVRL1c.191G= (p.Trp64=)
c.149G= (p.Trp50=)
c.103+651G= (n.103+651G=)
12g.51913186G>TCA236361838ACVRL1c.191G>T (p.Trp64Leu)
c.149G>T (p.Trp50Leu)
c.103+651G>T (n.103+651G>T)
 dbSNP gnomAD v4
12g.51913187G>ACA384897709ACVRL1c.192G>A (p.Trp64Ter)
c.150G>A (p.Trp50Ter)
c.103+652G>A (n.103+652G>A)
 gnomAD v4
12g.51913187G>CCA384897711ACVRL1c.192G>C (p.Trp64Cys)
c.150G>C (p.Trp50Cys)
c.103+652G>C (n.103+652G>C)
 ClinVar dbSNP
12g.51913187G=CA2036267012ACVRL1c.192G= (p.Trp64=)
c.150G= (p.Trp50=)
c.103+652G= (n.103+652G=)
12g.51913187G>TCA254373ACVRL1c.192G>T (p.Trp64Cys)
c.150G>T (p.Trp50Cys)
c.103+652G>T (n.103+652G>T)
 ClinVar dbSNP gnomAD v4
12g.51913188T>ACA384897713ACVRL1c.193T>A (p.Cys65Ser)
c.151T>A (p.Cys51Ser)
c.103+653T>A (n.103+653T>A)
 ClinVar
12g.51913188T>CCA384897715ACVRL1c.193T>C (p.Cys65Arg)
c.151T>C (p.Cys51Arg)
c.103+653T>C (n.103+653T>C)
12g.51913188T>GCA384897717ACVRL1c.193T>G (p.Cys65Gly)
c.151T>G (p.Cys51Gly)
c.103+653T>G (n.103+653T>G)
 ClinVar dbSNP
12g.51913188T=CA2588340210ACVRL1c.193T= (p.Cys65=)
c.151T= (p.Cys51=)
c.103+653T= (n.103+653T=)
12g.51913189G>ACA324720ACVRL1c.194G>A (p.Cys65Tyr)
c.152G>A (p.Cys51Tyr)
c.103+654G>A (n.103+654G>A)
 ClinVar dbSNP
12g.51913189G>CCA384897720ACVRL1c.194G>C (p.Cys65Ser)
c.152G>C (p.Cys51Ser)
c.103+654G>C (n.103+654G>C)
12g.51913189G=CA2036267015ACVRL1c.194G= (p.Cys65=)
c.152G= (p.Cys51=)
c.103+654G= (n.103+654G=)
12g.51913189G>TCA384897722ACVRL1c.194G>T (p.Cys65Phe)
c.152G>T (p.Cys51Phe)
c.103+654G>T (n.103+654G>T)
 gnomAD v4
12g.51913190C>ACA384897723ACVRL1c.195C>A (p.Cys65Ter)
c.153C>A (p.Cys51Ter)
c.103+655C>A (n.103+655C>A)
12g.51913190C>GCA384897725ACVRL1c.195C>G (p.Cys65Trp)
c.153C>G (p.Cys51Trp)
c.103+655C>G (n.103+655C>G)
12g.51913190C>TCA480063114ACVRL1c.195C>T (p.Cys65=)
c.153C>T (p.Cys51=)
c.103+655C>T (n.103+655C>T)
12g.51913191A=CA2036267018ACVRL1c.196A= (p.Thr66=)
c.154A= (p.Thr52=)
c.103+656A= (n.103+656A=)
12g.51913191A>CCA384897726ACVRL1c.196A>C (p.Thr66Pro)
c.154A>C (p.Thr52Pro)
c.103+656A>C (n.103+656A>C)
 ClinVar
12g.51913191A>GCA384897738ACVRL1c.196A>G (p.Thr66Ala)
c.154A>G (p.Thr52Ala)
c.103+656A>G (n.103+656A>G)
 ClinVar dbSNP
12g.51913191A>TCA384897727ACVRL1c.196A>T (p.Thr66Ser)
c.154A>T (p.Thr52Ser)
c.103+656A>T (n.103+656A>T)
12g.51913192delCA2695216670ACVRL1c.197del (p.Thr66LysfsTer2)
c.155del (p.Thr52LysfsTer2)
c.103+657del (n.103+657del)
12g.51913192C>ACA384897742ACVRL1c.197C>A (p.Thr66Lys)
c.155C>A (p.Thr52Lys)
c.103+657C>A (n.103+657C>A)
12g.51913192C>GCA384897745ACVRL1c.197C>G (p.Thr66Arg)
c.155C>G (p.Thr52Arg)
c.103+657C>G (n.103+657C>G)
12g.51913192C>TCA384897743ACVRL1c.197C>T (p.Thr66Ile)
c.155C>T (p.Thr52Ile)
c.103+657C>T (n.103+657C>T)
 gnomAD v4
12g.51913193A=CA2036267021ACVRL1c.198A= (p.Thr66=)
c.156A= (p.Thr52=)
c.103+658A= (n.103+658A=)
12g.51913193A>CCA480063121ACVRL1c.198A>C (p.Thr66=)
c.156A>C (p.Thr52=)
c.103+658A>C (n.103+658A>C)
12g.51913193A>GCA480063119ACVRL1c.198A>G (p.Thr66=)
c.156A>G (p.Thr52=)
c.103+658A>G (n.103+658A>G)
 dbSNP
12g.51913193A>TCA480063118ACVRL1c.198A>T (p.Thr66=)
c.156A>T (p.Thr52=)
c.103+658A>T (n.103+658A>T)
12g.51913196_51913198delCA1139767800ACVRL1c.201_203del (p.Val68del)
c.159_161del (p.Val54del)
c.103+661_103+663del (n.103+661_103+663del)
 ClinVar
12g.51913194G>ACA384897747ACVRL1c.199G>A (p.Val67Ile)
c.157G>A (p.Val53Ile)
c.103+659G>A (n.103+659G>A)
12g.51913194G>CCA6572825ACVRL1c.199G>C (p.Val67Leu)
c.157G>C (p.Val53Leu)
c.103+659G>C (n.103+659G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51913194G=CA2036267023ACVRL1c.199G= (p.Val67=)
c.157G= (p.Val53=)
c.103+659G= (n.103+659G=)
12g.51913194G>TCA384897748ACVRL1c.199G>T (p.Val67Leu)
c.157G>T (p.Val53Leu)
c.103+659G>T (n.103+659G>T)
 gnomAD v4
12g.51913195T>ACA384897750ACVRL1c.200T>A (p.Val67Glu)
c.158T>A (p.Val53Glu)
c.103+660T>A (n.103+660T>A)
12g.51913195T>CCA384897754ACVRL1c.200T>C (p.Val67Ala)
c.158T>C (p.Val53Ala)
c.103+660T>C (n.103+660T>C)
 ClinVar
12g.51913195T>GCA384897752ACVRL1c.200T>G (p.Val67Gly)
c.158T>G (p.Val53Gly)
c.103+660T>G (n.103+660T>G)
12g.51913196A>CCA480063123ACVRL1c.201A>C (p.Val67=)
c.159A>C (p.Val53=)
c.103+661A>C (n.103+661A>C)
12g.51913196A>GCA480063125ACVRL1c.201A>G (p.Val67=)
c.159A>G (p.Val53=)
c.103+661A>G (n.103+661A>G)
12g.51913196A>TCA480063124ACVRL1c.201A>T (p.Val67=)
c.159A>T (p.Val53=)
c.103+661A>T (n.103+661A>T)

Number of alleles fetched