Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51918926G>ACA2036239577ACVRL1c.977-59G>A (n.977-59G>A)
c.1247-59G>A (n.1247-59G>A)
c.725-59G>A (n.725-59G>A)
n.522-59G>A
c.1289-59G>A (n.1289-59G>A)
c.252-59G>A
c.458-59G>A (n.458-59G>A)
 dbSNP
12g.51918926G=CA2036239576ACVRL1c.977-59G= (n.977-59G=)
c.1247-59G= (n.1247-59G=)
c.725-59G= (n.725-59G=)
n.522-59G=
c.1289-59G= (n.1289-59G=)
c.252-59G=
c.458-59G= (n.458-59G=)
12g.51918927_51918928delinsGTCA2036239578ACVRL1c.977-58_977-57delinsGT (n.977-58_977-57delinsGT)
c.1247-58_1247-57delinsGT (n.1247-58_1247-57delinsGT)
c.725-58_725-57delinsGT (n.725-58_725-57delinsGT)
n.522-58_522-57delinsGT
c.1289-58_1289-57delinsGT (n.1289-58_1289-57delinsGT)
c.252-58_252-57delinsGT
c.458-58_458-57delinsGT (n.458-58_458-57delinsGT)
12g.51918928delCA689768354ACVRL1c.977-57del (n.977-57del)
c.1247-57del (n.1247-57del)
c.725-57del (n.725-57del)
n.522-57del
c.1289-57del (n.1289-57del)
c.252-57del
c.458-57del (n.458-57del)
 dbSNP
12g.51918928T>GCA2036239582ACVRL1c.977-57T>G (n.977-57T>G)
c.1247-57T>G (n.1247-57T>G)
c.725-57T>G (n.725-57T>G)
n.522-57T>G
c.1289-57T>G (n.1289-57T>G)
c.252-57T>G
c.458-57T>G (n.458-57T>G)
 dbSNP
12g.51918928T=CA2036239580ACVRL1c.977-57T= (n.977-57T=)
c.1247-57T= (n.1247-57T=)
c.725-57T= (n.725-57T=)
n.522-57T=
c.1289-57T= (n.1289-57T=)
c.252-57T=
c.458-57T= (n.458-57T=)
12g.51918929G>ACA236366566ACVRL1c.977-56G>A (n.977-56G>A)
c.1247-56G>A (n.1247-56G>A)
c.725-56G>A (n.725-56G>A)
n.522-56G>A
c.1289-56G>A (n.1289-56G>A)
c.252-56G>A
c.458-56G>A (n.458-56G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51918929G=CA2036239583ACVRL1c.977-56G= (n.977-56G=)
c.1247-56G= (n.1247-56G=)
c.725-56G= (n.725-56G=)
n.522-56G=
c.1289-56G= (n.1289-56G=)
c.252-56G=
c.458-56G= (n.458-56G=)
12g.51918929G>TCA2523478312ACVRL1c.977-56G>T (n.977-56G>T)
c.1247-56G>T (n.1247-56G>T)
c.725-56G>T (n.725-56G>T)
n.522-56G>T
c.1289-56G>T (n.1289-56G>T)
c.252-56G>T
c.458-56G>T (n.458-56G>T)
12g.51918930G>ACA2618859860ACVRL1c.977-55G>A (n.977-55G>A)
c.1247-55G>A (n.1247-55G>A)
c.725-55G>A (n.725-55G>A)
n.522-55G>A
c.1289-55G>A (n.1289-55G>A)
c.252-55G>A
c.458-55G>A (n.458-55G>A)
 gnomAD v4
12g.51918930G>TCA2618859861ACVRL1c.977-55G>T (n.977-55G>T)
c.1247-55G>T (n.1247-55G>T)
c.725-55G>T (n.725-55G>T)
n.522-55G>T
c.1289-55G>T (n.1289-55G>T)
c.252-55G>T
c.458-55G>T (n.458-55G>T)
 gnomAD v4
12g.51918931T>GCA2036239587ACVRL1c.977-54T>G (n.977-54T>G)
c.1247-54T>G (n.1247-54T>G)
c.725-54T>G (n.725-54T>G)
n.522-54T>G
c.1289-54T>G (n.1289-54T>G)
c.252-54T>G
c.458-54T>G (n.458-54T>G)
 dbSNP
12g.51918931T=CA2036239586ACVRL1c.977-54T= (n.977-54T=)
c.1247-54T= (n.1247-54T=)
c.725-54T= (n.725-54T=)
n.522-54T=
c.1289-54T= (n.1289-54T=)
c.252-54T=
c.458-54T= (n.458-54T=)
12g.51918932A=CA2036239588ACVRL1c.977-53A= (n.977-53A=)
c.1247-53A= (n.1247-53A=)
c.725-53A= (n.725-53A=)
n.522-53A=
c.1289-53A= (n.1289-53A=)
c.252-53A=
c.458-53A= (n.458-53A=)
12g.51918932A>GCA236366569ACVRL1c.977-53A>G (n.977-53A>G)
c.1247-53A>G (n.1247-53A>G)
c.725-53A>G (n.725-53A>G)
n.522-53A>G
c.1289-53A>G (n.1289-53A>G)
c.252-53A>G
c.458-53A>G (n.458-53A>G)
 dbSNP gnomAD v3 gnomAD v4
12g.51918932A>TCA2618859862ACVRL1c.977-53A>T (n.977-53A>T)
c.1247-53A>T (n.1247-53A>T)
c.725-53A>T (n.725-53A>T)
n.522-53A>T
c.1289-53A>T (n.1289-53A>T)
c.252-53A>T
c.458-53A>T (n.458-53A>T)
 gnomAD v4
12g.51918935G>TCA2575161571ACVRL1c.977-50G>T (n.977-50G>T)
c.1247-50G>T (n.1247-50G>T)
c.725-50G>T (n.725-50G>T)
n.522-50G>T
c.1289-50G>T (n.1289-50G>T)
c.252-50G>T
c.458-50G>T (n.458-50G>T)
12g.51918935_51918936insTCCCAAGTGATTCA2618859863ACVRL1c.977-50_977-49insTCCCAAGTGATT (n.977-50_977-49insTCCCAAGTGATT)
c.1247-50_1247-49insTCCCAAGTGATT (n.1247-50_1247-49insTCCCAAGTGATT)
c.725-50_725-49insTCCCAAGTGATT (n.725-50_725-49insTCCCAAGTGATT)
n.522-50_522-49insTCCCAAGTGATT
c.1289-50_1289-49insTCCCAAGTGATT (n.1289-50_1289-49insTCCCAAGTGATT)
c.252-50_252-49insTCCCAAGTGATT
c.458-50_458-49insTCCCAAGTGATT (n.458-50_458-49insTCCCAAGTGATT)
 gnomAD v4
12g.51918936G>ACA6573106ACVRL1c.977-49G>A (n.977-49G>A)
c.1247-49G>A (n.1247-49G>A)
c.725-49G>A (n.725-49G>A)
n.522-49G>A
c.1289-49G>A (n.1289-49G>A)
c.252-49G>A
c.458-49G>A (n.458-49G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918936G=CA2036239591ACVRL1c.977-49G= (n.977-49G=)
c.1247-49G= (n.1247-49G=)
c.725-49G= (n.725-49G=)
n.522-49G=
c.1289-49G= (n.1289-49G=)
c.252-49G=
c.458-49G= (n.458-49G=)
12g.51918936G>TCA2575161572ACVRL1c.977-49G>T (n.977-49G>T)
c.1247-49G>T (n.1247-49G>T)
c.725-49G>T (n.725-49G>T)
n.522-49G>T
c.1289-49G>T (n.1289-49G>T)
c.252-49G>T
c.458-49G>T (n.458-49G>T)
12g.51918937G>ACA6573107ACVRL1c.977-48G>A (n.977-48G>A)
c.1247-48G>A (n.1247-48G>A)
c.725-48G>A (n.725-48G>A)
n.522-48G>A
c.1289-48G>A (n.1289-48G>A)
c.252-48G>A
c.458-48G>A (n.458-48G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918937G=CA2036239593ACVRL1c.977-48G= (n.977-48G=)
c.1247-48G= (n.1247-48G=)
c.725-48G= (n.725-48G=)
n.522-48G=
c.1289-48G= (n.1289-48G=)
c.252-48G=
c.458-48G= (n.458-48G=)
12g.51918937G>TCA2618859869ACVRL1c.977-48G>T (n.977-48G>T)
c.1247-48G>T (n.1247-48G>T)
c.725-48G>T (n.725-48G>T)
n.522-48G>T
c.1289-48G>T (n.1289-48G>T)
c.252-48G>T
c.458-48G>T (n.458-48G>T)
 gnomAD v4
12g.51918939C>ACA2618859871ACVRL1c.977-46C>A (n.977-46C>A)
c.1247-46C>A (n.1247-46C>A)
c.725-46C>A (n.725-46C>A)
n.522-46C>A
c.1289-46C>A (n.1289-46C>A)
c.252-46C>A
c.458-46C>A (n.458-46C>A)
 gnomAD v4
12g.51918939C=CA2036239596ACVRL1c.977-46C= (n.977-46C=)
c.1247-46C= (n.1247-46C=)
c.725-46C= (n.725-46C=)
n.522-46C=
c.1289-46C= (n.1289-46C=)
c.252-46C=
c.458-46C= (n.458-46C=)
12g.51918939C>TCA6573108ACVRL1c.977-46C>T (n.977-46C>T)
c.1247-46C>T (n.1247-46C>T)
c.725-46C>T (n.725-46C>T)
n.522-46C>T
c.1289-46C>T (n.1289-46C>T)
c.252-46C>T
c.458-46C>T (n.458-46C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51918940T>CCA2618859875ACVRL1c.977-45T>C (n.977-45T>C)
c.1247-45T>C (n.1247-45T>C)
c.725-45T>C (n.725-45T>C)
n.522-45T>C
c.1289-45T>C (n.1289-45T>C)
c.252-45T>C
c.458-45T>C (n.458-45T>C)
 gnomAD v4
12g.51918940_51918941insGTCA2618859874ACVRL1c.977-45_977-44insGT (n.977-45_977-44insGT)
c.1247-45_1247-44insGT (n.1247-45_1247-44insGT)
c.725-45_725-44insGT (n.725-45_725-44insGT)
n.522-45_522-44insGT
c.1289-45_1289-44insGT (n.1289-45_1289-44insGT)
c.252-45_252-44insGT
c.458-45_458-44insGT (n.458-45_458-44insGT)
 gnomAD v4
12g.51918941C=CA2036239600ACVRL1c.977-44C= (n.977-44C=)
c.1247-44C= (n.1247-44C=)
c.725-44C= (n.725-44C=)
n.522-44C=
c.1289-44C= (n.1289-44C=)
c.252-44C=
c.458-44C= (n.458-44C=)
12g.51918941C>TCA689768364ACVRL1c.977-44C>T (n.977-44C>T)
c.1247-44C>T (n.1247-44C>T)
c.725-44C>T (n.725-44C>T)
n.522-44C>T
c.1289-44C>T (n.1289-44C>T)
c.252-44C>T
c.458-44C>T (n.458-44C>T)
 dbSNP gnomAD v4
12g.51918942C=CA2036239602ACVRL1c.977-43C= (n.977-43C=)
c.1247-43C= (n.1247-43C=)
c.725-43C= (n.725-43C=)
n.522-43C=
c.1289-43C= (n.1289-43C=)
c.252-43C=
c.458-43C= (n.458-43C=)
12g.51918942C>TCA6573109ACVRL1c.977-43C>T (n.977-43C>T)
c.1247-43C>T (n.1247-43C>T)
c.725-43C>T (n.725-43C>T)
n.522-43C>T
c.1289-43C>T (n.1289-43C>T)
c.252-43C>T
c.458-43C>T (n.458-43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918947A>CCA2618859878ACVRL1c.977-38A>C (n.977-38A>C)
c.1247-38A>C (n.1247-38A>C)
c.725-38A>C (n.725-38A>C)
n.522-38A>C
c.1289-38A>C (n.1289-38A>C)
c.252-38A>C
c.458-38A>C (n.458-38A>C)
 gnomAD v4
12g.51918948G>ACA2618859879ACVRL1c.977-37G>A (n.977-37G>A)
c.1247-37G>A (n.1247-37G>A)
c.725-37G>A (n.725-37G>A)
n.522-37G>A
c.1289-37G>A (n.1289-37G>A)
c.252-37G>A
c.458-37G>A (n.458-37G>A)
 gnomAD v4
12g.51918949T>GCA605052574ACVRL1c.977-36T>G (n.977-36T>G)
c.1247-36T>G (n.1247-36T>G)
c.725-36T>G (n.725-36T>G)
n.522-36T>G
c.1289-36T>G (n.1289-36T>G)
c.252-36T>G
c.458-36T>G (n.458-36T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.51918949T=CA2036239605ACVRL1c.977-36T= (n.977-36T=)
c.1247-36T= (n.1247-36T=)
c.725-36T= (n.725-36T=)
n.522-36T=
c.1289-36T= (n.1289-36T=)
c.252-36T=
c.458-36T= (n.458-36T=)
12g.51918953A=CA2036239610ACVRL1c.977-32A= (n.977-32A=)
c.1247-32A= (n.1247-32A=)
c.725-32A= (n.725-32A=)
n.522-32A=
c.1289-32A= (n.1289-32A=)
c.252-32A=
c.458-32A= (n.458-32A=)
12g.51918953A>TCA6573110ACVRL1c.977-32A>T (n.977-32A>T)
c.1247-32A>T (n.1247-32A>T)
c.725-32A>T (n.725-32A>T)
n.522-32A>T
c.1289-32A>T (n.1289-32A>T)
c.252-32A>T
c.458-32A>T (n.458-32A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51918954A>GCA2618859880ACVRL1c.977-31A>G (n.977-31A>G)
c.1247-31A>G (n.1247-31A>G)
c.725-31A>G (n.725-31A>G)
n.522-31A>G
c.1289-31A>G (n.1289-31A>G)
c.252-31A>G
c.458-31A>G (n.458-31A>G)
 gnomAD v4
12g.51918955G>ACA605052576ACVRL1c.977-30G>A (n.977-30G>A)
c.1247-30G>A (n.1247-30G>A)
c.725-30G>A (n.725-30G>A)
n.522-30G>A
c.1289-30G>A (n.1289-30G>A)
c.252-30G>A
c.458-30G>A (n.458-30G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51918955G=CA2036239612ACVRL1c.977-30G= (n.977-30G=)
c.1247-30G= (n.1247-30G=)
c.725-30G= (n.725-30G=)
n.522-30G=
c.1289-30G= (n.1289-30G=)
c.252-30G=
c.458-30G= (n.458-30G=)
12g.51918957G>CCA2726344737ACVRL1c.977-28G>C (n.977-28G>C)
c.1247-28G>C (n.1247-28G>C)
c.725-28G>C (n.725-28G>C)
n.522-28G>C
c.1289-28G>C (n.1289-28G>C)
c.252-28G>C
c.458-28G>C (n.458-28G>C)
 dbSNP
12g.51918959T>CCA2618859881ACVRL1c.977-26T>C (n.977-26T>C)
c.1247-26T>C (n.1247-26T>C)
c.725-26T>C (n.725-26T>C)
n.522-26T>C
c.1289-26T>C (n.1289-26T>C)
c.252-26T>C
c.458-26T>C (n.458-26T>C)
 gnomAD v4
12g.51918960T>CCA2575161574ACVRL1c.977-25T>C (n.977-25T>C)
c.1247-25T>C (n.1247-25T>C)
c.725-25T>C (n.725-25T>C)
n.522-25T>C
c.1289-25T>C (n.1289-25T>C)
c.252-25T>C
c.458-25T>C (n.458-25T>C)
12g.51918960T>GCA2575161575ACVRL1c.977-25T>G (n.977-25T>G)
c.1247-25T>G (n.1247-25T>G)
c.725-25T>G (n.725-25T>G)
n.522-25T>G
c.1289-25T>G (n.1289-25T>G)
c.252-25T>G
c.458-25T>G (n.458-25T>G)
 gnomAD v4
12g.51918963C>TCA2618859882ACVRL1c.977-22C>T (n.977-22C>T)
c.1247-22C>T (n.1247-22C>T)
c.725-22C>T (n.725-22C>T)
n.522-22C>T
c.1289-22C>T (n.1289-22C>T)
c.252-22C>T
c.458-22C>T (n.458-22C>T)
 gnomAD v4
12g.51918965delCA2618859883ACVRL1c.977-20del (n.977-20del)
c.1247-20del (n.1247-20del)
c.725-20del (n.725-20del)
n.522-20del
c.1289-20del (n.1289-20del)
c.252-20del
c.458-20del (n.458-20del)
 gnomAD v4
12g.51918969C=CA2036239614ACVRL1c.977-16C= (n.977-16C=)
c.1247-16C= (n.1247-16C=)
c.725-16C= (n.725-16C=)
n.522-16C=
c.1289-16C= (n.1289-16C=)
c.252-16C=
c.458-16C= (n.458-16C=)
12g.51918969C>TCA2036239616ACVRL1c.977-16C>T (n.977-16C>T)
c.1247-16C>T (n.1247-16C>T)
c.725-16C>T (n.725-16C>T)
n.522-16C>T
c.1289-16C>T (n.1289-16C>T)
c.252-16C>T
c.458-16C>T (n.458-16C>T)
 dbSNP gnomAD v4
12g.51918970A=CA2036239619ACVRL1c.977-15A= (n.977-15A=)
c.1247-15A= (n.1247-15A=)
c.725-15A= (n.725-15A=)
n.522-15A=
c.1289-15A= (n.1289-15A=)
c.252-15A=
c.458-15A= (n.458-15A=)
12g.51918970A>GCA6573111ACVRL1c.977-15A>G (n.977-15A>G)
c.1247-15A>G (n.1247-15A>G)
c.725-15A>G (n.725-15A>G)
n.522-15A>G
c.1289-15A>G (n.1289-15A>G)
c.252-15A>G
c.458-15A>G (n.458-15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918970_51918971delinsATCA2036239623ACVRL1c.977-15_977-14delinsAT (n.977-15_977-14delinsAT)
c.1247-15_1247-14delinsAT (n.1247-15_1247-14delinsAT)
c.725-15_725-14delinsAT (n.725-15_725-14delinsAT)
n.522-15_522-14delinsAT
c.1289-15_1289-14delinsAT (n.1289-15_1289-14delinsAT)
c.252-15_252-14delinsAT
c.458-15_458-14delinsAT (n.458-15_458-14delinsAT)
12g.51918972delCA6573112ACVRL1c.977-13del (n.977-13del)
c.1247-13del (n.1247-13del)
c.725-13del (n.725-13del)
n.522-13del
c.1289-13del (n.1289-13del)
c.252-13del
c.458-13del (n.458-13del)
 dbSNP ExAC gnomAD v4
12g.51918972T>GCA6573113ACVRL1c.977-13T>G (n.977-13T>G)
c.1247-13T>G (n.1247-13T>G)
c.725-13T>G (n.725-13T>G)
n.522-13T>G
c.1289-13T>G (n.1289-13T>G)
c.252-13T>G
c.458-13T>G (n.458-13T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918972T=CA2036239628ACVRL1c.977-13T= (n.977-13T=)
c.1247-13T= (n.1247-13T=)
c.725-13T= (n.725-13T=)
n.522-13T=
c.1289-13T= (n.1289-13T=)
c.252-13T=
c.458-13T= (n.458-13T=)
12g.51918973C=CA2036239631ACVRL1c.977-12C= (n.977-12C=)
c.1247-12C= (n.1247-12C=)
c.725-12C= (n.725-12C=)
n.522-12C=
c.1289-12C= (n.1289-12C=)
c.252-12C=
c.458-12C= (n.458-12C=)
12g.51918973C>GCA2618859884ACVRL1c.977-12C>G (n.977-12C>G)
c.1247-12C>G (n.1247-12C>G)
c.725-12C>G (n.725-12C>G)
n.522-12C>G
c.1289-12C>G (n.1289-12C>G)
c.252-12C>G
c.458-12C>G (n.458-12C>G)
 gnomAD v4
12g.51918973C>TCA2036239633ACVRL1c.977-12C>T (n.977-12C>T)
c.1247-12C>T (n.1247-12C>T)
c.725-12C>T (n.725-12C>T)
n.522-12C>T
c.1289-12C>T (n.1289-12C>T)
c.252-12C>T
c.458-12C>T (n.458-12C>T)
 dbSNP gnomAD v4
12g.51918974T>ACA2575161578ACVRL1c.977-11T>A (n.977-11T>A)
c.1247-11T>A (n.1247-11T>A)
c.725-11T>A (n.725-11T>A)
n.522-11T>A
c.1289-11T>A (n.1289-11T>A)
c.252-11T>A
c.458-11T>A (n.458-11T>A)
12g.51918974T>GCA605052578ACVRL1c.977-11T>G (n.977-11T>G)
c.1247-11T>G (n.1247-11T>G)
c.725-11T>G (n.725-11T>G)
n.522-11T>G
c.1289-11T>G (n.1289-11T>G)
c.252-11T>G
c.458-11T>G (n.458-11T>G)
 dbSNP gnomAD v2
12g.51918974T=CA2036239636ACVRL1c.977-11T= (n.977-11T=)
c.1247-11T= (n.1247-11T=)
c.725-11T= (n.725-11T=)
n.522-11T=
c.1289-11T= (n.1289-11T=)
c.252-11T=
c.458-11T= (n.458-11T=)
12g.51918975C=CA2036239638ACVRL1c.977-10C= (n.977-10C=)
c.1247-10C= (n.1247-10C=)
c.725-10C= (n.725-10C=)
n.522-10C=
c.1289-10C= (n.1289-10C=)
c.252-10C=
c.458-10C= (n.458-10C=)
12g.51918975C>TCA6573114ACVRL1c.977-10C>T (n.977-10C>T)
c.1247-10C>T (n.1247-10C>T)
c.725-10C>T (n.725-10C>T)
n.522-10C>T
c.1289-10C>T (n.1289-10C>T)
c.252-10C>T
c.458-10C>T (n.458-10C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51918976C=CA2036239640ACVRL1c.977-9C= (n.977-9C=)
c.1247-9C= (n.1247-9C=)
c.725-9C= (n.725-9C=)
n.522-9C=
c.1289-9C= (n.1289-9C=)
c.252-9C=
c.458-9C= (n.458-9C=)
12g.51918976C>TCA236366592ACVRL1c.977-9C>T (n.977-9C>T)
c.1247-9C>T (n.1247-9C>T)
c.725-9C>T (n.725-9C>T)
n.522-9C>T
c.1289-9C>T (n.1289-9C>T)
c.252-9C>T
c.458-9C>T (n.458-9C>T)
 dbSNP gnomAD v4
12g.51918978T>ACA2795983270ACVRL1c.977-7T>A (n.977-7T>A)
c.1247-7T>A (n.1247-7T>A)
c.725-7T>A (n.725-7T>A)
n.522-7T>A
c.1289-7T>A (n.1289-7T>A)
c.252-7T>A
c.458-7T>A (n.458-7T>A)
12g.51918978T>CCA605052580ACVRL1c.977-7T>C (n.977-7T>C)
c.1247-7T>C (n.1247-7T>C)
c.725-7T>C (n.725-7T>C)
n.522-7T>C
c.1289-7T>C (n.1289-7T>C)
c.252-7T>C
c.458-7T>C (n.458-7T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.51918978T>GCA2580611961ACVRL1c.977-7T>G (n.977-7T>G)
c.1247-7T>G (n.1247-7T>G)
c.725-7T>G (n.725-7T>G)
n.522-7T>G
c.1289-7T>G (n.1289-7T>G)
c.252-7T>G
c.458-7T>G (n.458-7T>G)
 ClinVar
12g.51918978T=CA2036239644ACVRL1c.977-7T= (n.977-7T=)
c.1247-7T= (n.1247-7T=)
c.725-7T= (n.725-7T=)
n.522-7T=
c.1289-7T= (n.1289-7T=)
c.252-7T=
c.458-7T= (n.458-7T=)
12g.51918980T>CCA6573115ACVRL1c.977-5T>C (n.977-5T>C)
c.1247-5T>C (n.1247-5T>C)
c.725-5T>C (n.725-5T>C)
n.522-5T>C
c.1289-5T>C (n.1289-5T>C)
c.252-5T>C
c.458-5T>C (n.458-5T>C)
 dbSNP ExAC gnomAD v2
12g.51918980T=CA2036239646ACVRL1c.977-5T= (n.977-5T=)
c.1247-5T= (n.1247-5T=)
c.725-5T= (n.725-5T=)
n.522-5T=
c.1289-5T= (n.1289-5T=)
c.252-5T=
c.458-5T= (n.458-5T=)
12g.51918981C>ACA947667562ACVRL1c.977-4C>A (n.977-4C>A)
c.1247-4C>A (n.1247-4C>A)
c.725-4C>A (n.725-4C>A)
n.522-4C>A
c.1289-4C>A (n.1289-4C>A)
c.252-4C>A
c.458-4C>A (n.458-4C>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51918981C=CA2036239650ACVRL1c.977-4C= (n.977-4C=)
c.1247-4C= (n.1247-4C=)
c.725-4C= (n.725-4C=)
n.522-4C=
c.1289-4C= (n.1289-4C=)
c.252-4C=
c.458-4C= (n.458-4C=)
12g.51918981C>TCA2036239652ACVRL1c.977-4C>T (n.977-4C>T)
c.1247-4C>T (n.1247-4C>T)
c.725-4C>T (n.725-4C>T)
n.522-4C>T
c.1289-4C>T (n.1289-4C>T)
c.252-4C>T
c.458-4C>T (n.458-4C>T)
 dbSNP
12g.51918982C>TCA2575161579ACVRL1c.977-3C>T (n.977-3C>T)
c.1247-3C>T (n.1247-3C>T)
c.725-3C>T (n.725-3C>T)
n.522-3C>T
c.1289-3C>T (n.1289-3C>T)
c.252-3C>T
c.458-3C>T (n.458-3C>T)
12g.51918983A>CCA384903584ACVRL1c.977-2A>C (n.977-2A>C)
c.1247-2A>C (n.1247-2A>C)
c.725-2A>C (n.725-2A>C)
n.522-2A>C
c.1289-2A>C (n.1289-2A>C)
c.252-2A>C
c.458-2A>C (n.458-2A>C)
12g.51918983A>GCA384903587ACVRL1c.977-2A>G (n.977-2A>G)
c.1247-2A>G (n.1247-2A>G)
c.725-2A>G (n.725-2A>G)
n.522-2A>G
c.1289-2A>G (n.1289-2A>G)
c.252-2A>G
c.458-2A>G (n.458-2A>G)
12g.51918983A>TCA384903590ACVRL1c.977-2A>T (n.977-2A>T)
c.1247-2A>T (n.1247-2A>T)
c.725-2A>T (n.725-2A>T)
n.522-2A>T
c.1289-2A>T (n.1289-2A>T)
c.252-2A>T
c.458-2A>T (n.458-2A>T)
12g.51918984G>ACA384903595ACVRL1c.977-1G>A (n.977-1G>A)
c.1247-1G>A (n.1247-1G>A)
c.725-1G>A (n.725-1G>A)
n.522-1G>A
c.1289-1G>A (n.1289-1G>A)
c.252-1G>A
c.458-1G>A (n.458-1G>A)
12g.51918984G>CCA384903592ACVRL1c.977-1G>C (n.977-1G>C)
c.1247-1G>C (n.1247-1G>C)
c.725-1G>C (n.725-1G>C)
n.522-1G>C
c.1289-1G>C (n.1289-1G>C)
c.252-1G>C
c.458-1G>C (n.458-1G>C)
 ClinVar dbSNP
12g.51918984G>TCA384903593ACVRL1c.977-1G>T (n.977-1G>T)
c.1247-1G>T (n.1247-1G>T)
c.725-1G>T (n.725-1G>T)
n.522-1G>T
c.1289-1G>T (n.1289-1G>T)
c.252-1G>T
c.458-1G>T (n.458-1G>T)
12g.51918985G>ACA384903599ACVRL1c.977G>A (p.Gly326Asp)
c.1247G>A (p.Gly416Asp)
c.725G>A (p.Gly242Asp)
n.522G>A
c.1289G>A (p.Gly430Asp)
c.252G>A
c.458G>A (p.Gly153Asp)
 gnomAD v4
12g.51918985G>CCA384903601ACVRL1c.977G>C (p.Gly326Ala)
c.1247G>C (p.Gly416Ala)
c.725G>C (p.Gly242Ala)
n.522G>C
c.1289G>C (p.Gly430Ala)
c.252G>C
c.458G>C (p.Gly153Ala)
 ClinVar dbSNP
12g.51918985G=CA2036239657ACVRL1c.977G= (p.Gly326=)
c.1247G= (p.Gly416=)
c.725G= (p.Gly242=)
n.522G=
c.1289G= (p.Gly430=)
c.252G=
c.458G= (p.Gly153=)
12g.51918985G>TCA384903603ACVRL1c.977G>T (p.Gly326Val)
c.1247G>T (p.Gly416Val)
c.725G>T (p.Gly242Val)
n.522G>T
c.1289G>T (p.Gly430Val)
c.252G>T
c.458G>T (p.Gly153Val)
12g.51918985_51919005delinsGCATCGTGGAGGACTATAGACCA2036239656ACVRL1c.977_997delinsGCATCGTGGAGGACTATAGAC (p.Gly326=)
c.1247_1267delinsGCATCGTGGAGGACTATAGAC (p.Gly416=)
c.725_745delinsGCATCGTGGAGGACTATAGAC (p.Gly242=)
n.522_542delinsGCATCGTGGAGGACTATAGAC
c.1289_1309delinsGCATCGTGGAGGACTATAGAC (p.Gly430=)
c.252_272delinsGCATCGTGGAGGACTATAGAC
c.458_478delinsGCATCGTGGAGGACTATAGAC (p.Gly153=)
12g.51918986C>ACA479813681ACVRL1c.978C>A (p.Gly326=)
c.1248C>A (p.Gly416=)
c.726C>A (p.Gly242=)
n.523C>A
c.1290C>A (p.Gly430=)
c.253C>A
c.459C>A (p.Gly153=)
12g.51918986C>GCA479813670ACVRL1c.978C>G (p.Gly326=)
c.1248C>G (p.Gly416=)
c.726C>G (p.Gly242=)
n.523C>G
c.1290C>G (p.Gly430=)
c.253C>G
c.459C>G (p.Gly153=)
12g.51918986C>TCA479813678ACVRL1c.978C>T (p.Gly326=)
c.1248C>T (p.Gly416=)
c.726C>T (p.Gly242=)
n.523C>T
c.1290C>T (p.Gly430=)
c.253C>T
c.459C>T (p.Gly153=)
 gnomAD v4
12g.51918988_51919007delCA658656295ACVRL1c.980_999del (p.Ile327ThrfsTer4)
c.1250_1269del (p.Ile417ThrfsTer4)
c.728_747del (p.Ile243ThrfsTer4)
n.525_544del
c.1292_1311del (p.Ile431ThrfsTer4)
c.255_274del
c.461_480del (p.Ile154ThrfsTer4)
 ClinVar dbSNP
12g.51918987A=CA2036239668ACVRL1c.979A= (p.Ile327=)
c.1249A= (p.Ile417=)
c.727A= (p.Ile243=)
n.524A=
c.1291A= (p.Ile431=)
c.254A=
c.460A= (p.Ile154=)
12g.51918987A>CCA384903606ACVRL1c.979A>C (p.Ile327Leu)
c.1249A>C (p.Ile417Leu)
c.727A>C (p.Ile243Leu)
n.524A>C
c.1291A>C (p.Ile431Leu)
c.254A>C
c.460A>C (p.Ile154Leu)
12g.51918987A>GCA384903607ACVRL1c.979A>G (p.Ile327Val)
c.1249A>G (p.Ile417Val)
c.727A>G (p.Ile243Val)
n.524A>G
c.1291A>G (p.Ile431Val)
c.254A>G
c.460A>G (p.Ile154Val)
12g.51918987A>TCA6573116ACVRL1c.979A>T (p.Ile327Phe)
c.1249A>T (p.Ile417Phe)
c.727A>T (p.Ile243Phe)
n.524A>T
c.1291A>T (p.Ile431Phe)
c.254A>T
c.460A>T (p.Ile154Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51918988T>ACA384903608ACVRL1c.980T>A (p.Ile327Asn)
c.1250T>A (p.Ile417Asn)
c.728T>A (p.Ile243Asn)
n.525T>A
c.1292T>A (p.Ile431Asn)
c.255T>A
c.461T>A (p.Ile154Asn)
12g.51918988T>CCA384903609ACVRL1c.980T>C (p.Ile327Thr)
c.1250T>C (p.Ile417Thr)
c.728T>C (p.Ile243Thr)
n.525T>C
c.1292T>C (p.Ile431Thr)
c.255T>C
c.461T>C (p.Ile154Thr)
12g.51918988T>GCA384903611ACVRL1c.980T>G (p.Ile327Ser)
c.1250T>G (p.Ile417Ser)
c.728T>G (p.Ile243Ser)
n.525T>G
c.1292T>G (p.Ile431Ser)
c.255T>G
c.461T>G (p.Ile154Ser)
12g.51918989C>ACA479813700ACVRL1c.981C>A (p.Ile327=)
c.1251C>A (p.Ile417=)
c.729C>A (p.Ile243=)
n.526C>A
c.1293C>A (p.Ile431=)
c.256C>A
c.462C>A (p.Ile154=)
12g.51918989C=CA2036239677ACVRL1c.981C= (p.Ile327=)
c.1251C= (p.Ile417=)
c.729C= (p.Ile243=)
n.526C=
c.1293C= (p.Ile431=)
c.256C=
c.462C= (p.Ile154=)
12g.51918989C>GCA384903614ACVRL1c.981C>G (p.Ile327Met)
c.1251C>G (p.Ile417Met)
c.729C>G (p.Ile243Met)
n.526C>G
c.1293C>G (p.Ile431Met)
c.256C>G
c.462C>G (p.Ile154Met)
12g.51918989C>TCA236366605ACVRL1c.981C>T (p.Ile327=)
c.1251C>T (p.Ile417=)
c.729C>T (p.Ile243=)
n.526C>T
c.1293C>T (p.Ile431=)
c.256C>T
c.462C>T (p.Ile154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.51918990G>ACA6573117ACVRL1c.982G>A (p.Val328Met)
c.1252G>A (p.Val418Met)
c.730G>A (p.Val244Met)
n.527G>A
c.1294G>A (p.Val432Met)
c.257G>A
c.463G>A (p.Val155Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51918990G>CCA384903626ACVRL1c.982G>C (p.Val328Leu)
c.1252G>C (p.Val418Leu)
c.730G>C (p.Val244Leu)
n.527G>C
c.1294G>C (p.Val432Leu)
c.257G>C
c.463G>C (p.Val155Leu)
12g.51918990G=CA2036239684ACVRL1c.982G= (p.Val328=)
c.1252G= (p.Val418=)
c.730G= (p.Val244=)
n.527G=
c.1294G= (p.Val432=)
c.257G=
c.463G= (p.Val155=)
12g.51918990G>TCA384903623ACVRL1c.982G>T (p.Val328Leu)
c.1252G>T (p.Val418Leu)
c.730G>T (p.Val244Leu)
n.527G>T
c.1294G>T (p.Val432Leu)
c.257G>T
c.463G>T (p.Val155Leu)
 gnomAD v4
12g.51918991T>ACA384903627ACVRL1c.983T>A (p.Val328Glu)
c.1253T>A (p.Val418Glu)
c.731T>A (p.Val244Glu)
n.528T>A
c.1295T>A (p.Val432Glu)
c.258T>A
c.464T>A (p.Val155Glu)
12g.51918991T>CCA384903628ACVRL1c.983T>C (p.Val328Ala)
c.1253T>C (p.Val418Ala)
c.731T>C (p.Val244Ala)
n.528T>C
c.1295T>C (p.Val432Ala)
c.258T>C
c.464T>C (p.Val155Ala)
12g.51918991T>GCA384903629ACVRL1c.983T>G (p.Val328Gly)
c.1253T>G (p.Val418Gly)
c.731T>G (p.Val244Gly)
n.528T>G
c.1295T>G (p.Val432Gly)
c.258T>G
c.464T>G (p.Val155Gly)
12g.51918992G>ACA479813723ACVRL1c.984G>A (p.Val328=)
c.1254G>A (p.Val418=)
c.732G>A (p.Val244=)
n.529G>A
c.1296G>A (p.Val432=)
c.259G>A
c.465G>A (p.Val155=)
12g.51918992G>CCA479813727ACVRL1c.984G>C (p.Val328=)
c.1254G>C (p.Val418=)
c.732G>C (p.Val244=)
n.529G>C
c.1296G>C (p.Val432=)
c.259G>C
c.465G>C (p.Val155=)
12g.51918992G>TCA479813730ACVRL1c.984G>T (p.Val328=)
c.1254G>T (p.Val418=)
c.732G>T (p.Val244=)
n.529G>T
c.1296G>T (p.Val432=)
c.259G>T
c.465G>T (p.Val155=)
12g.51918993G>ACA384903631ACVRL1c.985G>A (p.Glu329Lys)
c.1255G>A (p.Glu419Lys)
c.733G>A (p.Glu245Lys)
n.530G>A
c.1297G>A (p.Glu433Lys)
c.260G>A
c.466G>A (p.Glu156Lys)
12g.51918993G>CCA384903633ACVRL1c.985G>C (p.Glu329Gln)
c.1255G>C (p.Glu419Gln)
c.733G>C (p.Glu245Gln)
n.530G>C
c.1297G>C (p.Glu433Gln)
c.260G>C
c.466G>C (p.Glu156Gln)
12g.51918993G>TCA384903635ACVRL1c.985G>T (p.Glu329Ter)
c.1255G>T (p.Glu419Ter)
c.733G>T (p.Glu245Ter)
n.530G>T
c.1297G>T (p.Glu433Ter)
c.260G>T
c.466G>T (p.Glu156Ter)
12g.51918994A=CA2036239688ACVRL1c.986A= (p.Glu329=)
c.1256A= (p.Glu419=)
c.734A= (p.Glu245=)
n.531A=
c.1298A= (p.Glu433=)
c.261A=
c.467A= (p.Glu156=)
12g.51918994A>CCA384903646ACVRL1c.986A>C (p.Glu329Ala)
c.1256A>C (p.Glu419Ala)
c.734A>C (p.Glu245Ala)
n.531A>C
c.1298A>C (p.Glu433Ala)
c.261A>C
c.467A>C (p.Glu156Ala)
12g.51918994A>GCA384903638ACVRL1c.986A>G (p.Glu329Gly)
c.1256A>G (p.Glu419Gly)
c.734A>G (p.Glu245Gly)
n.531A>G
c.1298A>G (p.Glu433Gly)
c.261A>G
c.467A>G (p.Glu156Gly)
 dbSNP
12g.51918994A>TCA384903644ACVRL1c.986A>T (p.Glu329Val)
c.1256A>T (p.Glu419Val)
c.734A>T (p.Glu245Val)
n.531A>T
c.1298A>T (p.Glu433Val)
c.261A>T
c.467A>T (p.Glu156Val)
12g.51918995G>ACA479813750ACVRL1c.987G>A (p.Glu329=)
c.1257G>A (p.Glu419=)
c.735G>A (p.Glu245=)
n.532G>A
c.1299G>A (p.Glu433=)
c.262G>A
c.468G>A (p.Glu156=)
 dbSNP gnomAD v2 gnomAD v4
12g.51918995G>CCA384903648ACVRL1c.987G>C (p.Glu329Asp)
c.1257G>C (p.Glu419Asp)
c.735G>C (p.Glu245Asp)
n.532G>C
c.1299G>C (p.Glu433Asp)
c.262G>C
c.468G>C (p.Glu156Asp)
12g.51918995G=CA2036239690ACVRL1c.987G= (p.Glu329=)
c.1257G= (p.Glu419=)
c.735G= (p.Glu245=)
n.532G=
c.1299G= (p.Glu433=)
c.262G=
c.468G= (p.Glu156=)
12g.51918995G>TCA384903650ACVRL1c.987G>T (p.Glu329Asp)
c.1257G>T (p.Glu419Asp)
c.735G>T (p.Glu245Asp)
n.532G>T
c.1299G>T (p.Glu433Asp)
c.262G>T
c.468G>T (p.Glu156Asp)
12g.51918996G>ACA384903653ACVRL1c.988G>A (p.Asp330Asn)
c.1258G>A (p.Asp420Asn)
c.736G>A (p.Asp246Asn)
n.533G>A
c.1300G>A (p.Asp434Asn)
c.263G>A
c.469G>A (p.Asp157Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51918996G>CCA384903656ACVRL1c.988G>C (p.Asp330His)
c.1258G>C (p.Asp420His)
c.736G>C (p.Asp246His)
n.533G>C
c.1300G>C (p.Asp434His)
c.263G>C
c.469G>C (p.Asp157His)
12g.51918996G=CA2036239697ACVRL1c.988G= (p.Asp330=)
c.1258G= (p.Asp420=)
c.736G= (p.Asp246=)
n.533G=
c.1300G= (p.Asp434=)
c.263G=
c.469G= (p.Asp157=)
12g.51918996G>TCA384903664ACVRL1c.988G>T (p.Asp330Tyr)
c.1258G>T (p.Asp420Tyr)
c.736G>T (p.Asp246Tyr)
n.533G>T
c.1300G>T (p.Asp434Tyr)
c.263G>T
c.469G>T (p.Asp157Tyr)
12g.51918997A=CA2036239702ACVRL1c.989A= (p.Asp330=)
c.1259A= (p.Asp420=)
c.737A= (p.Asp246=)
n.534A=
c.1301A= (p.Asp434=)
c.264A=
c.470A= (p.Asp157=)
12g.51918997A>CCA384903665ACVRL1c.989A>C (p.Asp330Ala)
c.1259A>C (p.Asp420Ala)
c.737A>C (p.Asp246Ala)
n.534A>C
c.1301A>C (p.Asp434Ala)
c.264A>C
c.470A>C (p.Asp157Ala)
 dbSNP
12g.51918997A>GCA384903667ACVRL1c.989A>G (p.Asp330Gly)
c.1259A>G (p.Asp420Gly)
c.737A>G (p.Asp246Gly)
n.534A>G
c.1301A>G (p.Asp434Gly)
c.264A>G
c.470A>G (p.Asp157Gly)
12g.51918997A>TCA384903666ACVRL1c.989A>T (p.Asp330Val)
c.1259A>T (p.Asp420Val)
c.737A>T (p.Asp246Val)
n.534A>T
c.1301A>T (p.Asp434Val)
c.264A>T
c.470A>T (p.Asp157Val)
12g.51918998delCA2580086420ACVRL1c.990del (p.Tyr331IlefsTer18)
c.1260del (p.Tyr421IlefsTer18)
c.738del (p.Tyr247IlefsTer18)
n.535del
c.1302del (p.Tyr435IlefsTer18)
c.265del
c.471del (p.Tyr158IlefsTer18)
 ClinVar
12g.51918998C>ACA384903669ACVRL1c.990C>A (p.Asp330Glu)
c.1260C>A (p.Asp420Glu)
c.738C>A (p.Asp246Glu)
n.535C>A
c.1302C>A (p.Asp434Glu)
c.265C>A
c.471C>A (p.Asp157Glu)
12g.51918998C>GCA384903671ACVRL1c.990C>G (p.Asp330Glu)
c.1260C>G (p.Asp420Glu)
c.738C>G (p.Asp246Glu)
n.535C>G
c.1302C>G (p.Asp434Glu)
c.265C>G
c.471C>G (p.Asp157Glu)
12g.51918998C>TCA479813783ACVRL1c.990C>T (p.Asp330=)
c.1260C>T (p.Asp420=)
c.738C>T (p.Asp246=)
n.535C>T
c.1302C>T (p.Asp434=)
c.265C>T
c.471C>T (p.Asp157=)
12g.51918999T>ACA384903673ACVRL1c.991T>A (p.Tyr331Asn)
c.1261T>A (p.Tyr421Asn)
c.739T>A (p.Tyr247Asn)
n.536T>A
c.1303T>A (p.Tyr435Asn)
c.266T>A
c.472T>A (p.Tyr158Asn)
 ClinVar
12g.51918999T>CCA384903676ACVRL1c.991T>C (p.Tyr331His)
c.1261T>C (p.Tyr421His)
c.739T>C (p.Tyr247His)
n.536T>C
c.1303T>C (p.Tyr435His)
c.266T>C
c.472T>C (p.Tyr158His)
12g.51918999T>GCA384903682ACVRL1c.991T>G (p.Tyr331Asp)
c.1261T>G (p.Tyr421Asp)
c.739T>G (p.Tyr247Asp)
n.536T>G
c.1303T>G (p.Tyr435Asp)
c.266T>G
c.472T>G (p.Tyr158Asp)
 ClinVar
12g.51919000A>CCA384903684ACVRL1c.992A>C (p.Tyr331Ser)
c.1262A>C (p.Tyr421Ser)
c.740A>C (p.Tyr247Ser)
n.537A>C
c.1304A>C (p.Tyr435Ser)
c.267A>C
c.473A>C (p.Tyr158Ser)
12g.51919000A>GCA384903687ACVRL1c.992A>G (p.Tyr331Cys)
c.1262A>G (p.Tyr421Cys)
c.740A>G (p.Tyr247Cys)
n.537A>G
c.1304A>G (p.Tyr435Cys)
c.267A>G
c.473A>G (p.Tyr158Cys)
 COSMIC
12g.51919000A>TCA384903689ACVRL1c.992A>T (p.Tyr331Phe)
c.1262A>T (p.Tyr421Phe)
c.740A>T (p.Tyr247Phe)
n.537A>T
c.1304A>T (p.Tyr435Phe)
c.267A>T
c.473A>T (p.Tyr158Phe)
12g.51919001T>ACA384903692ACVRL1c.993T>A (p.Tyr331Ter)
c.1263T>A (p.Tyr421Ter)
c.741T>A (p.Tyr247Ter)
n.538T>A
c.1305T>A (p.Tyr435Ter)
c.268T>A
c.474T>A (p.Tyr158Ter)
12g.51919001T>CCA236366613ACVRL1c.993T>C (p.Tyr331=)
c.1263T>C (p.Tyr421=)
c.741T>C (p.Tyr247=)
n.538T>C
c.1305T>C (p.Tyr435=)
c.268T>C
c.474T>C (p.Tyr158=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51919001T>GCA384903695ACVRL1c.993T>G (p.Tyr331Ter)
c.1263T>G (p.Tyr421Ter)
c.741T>G (p.Tyr247Ter)
n.538T>G
c.1305T>G (p.Tyr435Ter)
c.268T>G
c.474T>G (p.Tyr158Ter)
12g.51919001T=CA2036239705ACVRL1c.993T= (p.Tyr331=)
c.1263T= (p.Tyr421=)
c.741T= (p.Tyr247=)
n.538T=
c.1305T= (p.Tyr435=)
c.268T=
c.474T= (p.Tyr158=)
12g.51919002A>CCA479813804ACVRL1c.994A>C (p.Arg332=)
c.1264A>C (p.Arg422=)
c.742A>C (p.Arg248=)
n.539A>C
c.1306A>C (p.Arg436=)
c.269A>C
c.475A>C (p.Arg159=)
12g.51919002A>GCA384903696ACVRL1c.994A>G (p.Arg332Gly)
c.1264A>G (p.Arg422Gly)
c.742A>G (p.Arg248Gly)
n.539A>G
c.1306A>G (p.Arg436Gly)
c.269A>G
c.475A>G (p.Arg159Gly)
12g.51919002A>TCA384903698ACVRL1c.994A>T (p.Arg332Ter)
c.1264A>T (p.Arg422Ter)
c.742A>T (p.Arg248Ter)
n.539A>T
c.1306A>T (p.Arg436Ter)
c.269A>T
c.475A>T (p.Arg159Ter)
12g.51919003G>ACA384903702ACVRL1c.995G>A (p.Arg332Lys)
c.1265G>A (p.Arg422Lys)
c.743G>A (p.Arg248Lys)
n.540G>A
c.1307G>A (p.Arg436Lys)
c.270G>A
c.476G>A (p.Arg159Lys)
 dbSNP
12g.51919003G>CCA384903701ACVRL1c.995G>C (p.Arg332Thr)
c.1265G>C (p.Arg422Thr)
c.743G>C (p.Arg248Thr)
n.540G>C
c.1307G>C (p.Arg436Thr)
c.270G>C
c.476G>C (p.Arg159Thr)
12g.51919003G>TCA384903699ACVRL1c.995G>T (p.Arg332Ile)
c.1265G>T (p.Arg422Ile)
c.743G>T (p.Arg248Ile)
n.540G>T
c.1307G>T (p.Arg436Ile)
c.270G>T
c.476G>T (p.Arg159Ile)
 gnomAD v4
12g.51919004A>CCA384903705ACVRL1c.996A>C (p.Arg332Ser)
c.1266A>C (p.Arg422Ser)
c.744A>C (p.Arg248Ser)
n.541A>C
c.1308A>C (p.Arg436Ser)
c.271A>C
c.477A>C (p.Arg159Ser)
12g.51919004A>GCA479813816ACVRL1c.996A>G (p.Arg332=)
c.1266A>G (p.Arg422=)
c.744A>G (p.Arg248=)
n.541A>G
c.1308A>G (p.Arg436=)
c.271A>G
c.477A>G (p.Arg159=)
12g.51919004A>TCA384903707ACVRL1c.996A>T (p.Arg332Ser)
c.1266A>T (p.Arg422Ser)
c.744A>T (p.Arg248Ser)
n.541A>T
c.1308A>T (p.Arg436Ser)
c.271A>T
c.477A>T (p.Arg159Ser)
12g.51919005C>ACA384903710ACVRL1c.997C>A (p.Pro333Thr)
c.1267C>A (p.Pro423Thr)
c.745C>A (p.Pro249Thr)
n.542C>A
c.1309C>A (p.Pro437Thr)
c.272C>A
c.478C>A (p.Pro160Thr)
12g.51919005C>GCA384903712ACVRL1c.997C>G (p.Pro333Ala)
c.1267C>G (p.Pro423Ala)
c.745C>G (p.Pro249Ala)
n.542C>G
c.1309C>G (p.Pro437Ala)
c.272C>G
c.478C>G (p.Pro160Ala)
12g.51919005C>TCA384903714ACVRL1c.997C>T (p.Pro333Ser)
c.1267C>T (p.Pro423Ser)
c.745C>T (p.Pro249Ser)
n.542C>T
c.1309C>T (p.Pro437Ser)
c.272C>T
c.478C>T (p.Pro160Ser)
12g.51919006C>ACA384903716ACVRL1c.998C>A (p.Pro333Gln)
c.1268C>A (p.Pro423Gln)
c.746C>A (p.Pro249Gln)
n.543C>A
c.1310C>A (p.Pro437Gln)
c.273C>A
c.479C>A (p.Pro160Gln)
12g.51919006C=CA2036239708ACVRL1c.998C= (p.Pro333=)
c.1268C= (p.Pro423=)
c.746C= (p.Pro249=)
n.543C=
c.1310C= (p.Pro437=)
c.273C=
c.479C= (p.Pro160=)
12g.51919006C>GCA384903719ACVRL1c.998C>G (p.Pro333Arg)
c.1268C>G (p.Pro423Arg)
c.746C>G (p.Pro249Arg)
n.543C>G
c.1310C>G (p.Pro437Arg)
c.273C>G
c.479C>G (p.Pro160Arg)
12g.51919006C>TCA384903724ACVRL1c.998C>T (p.Pro333Leu)
c.1268C>T (p.Pro423Leu)
c.746C>T (p.Pro249Leu)
n.543C>T
c.1310C>T (p.Pro437Leu)
c.273C>T
c.479C>T (p.Pro160Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.51919007delCA2695216693ACVRL1c.999del (p.Phe335SerfsTer14)
c.1269del (p.Phe425SerfsTer14)
c.747del (p.Phe251SerfsTer14)
n.544del
c.1311del (p.Phe439SerfsTer14)
c.274del
c.480del (p.Phe162SerfsTer14)
12g.51919007A>CCA479813835ACVRL1c.999A>C (p.Pro333=)
c.1269A>C (p.Pro423=)
c.747A>C (p.Pro249=)
n.544A>C
c.1311A>C (p.Pro437=)
c.274A>C
c.480A>C (p.Pro160=)
12g.51919007A>GCA479813831ACVRL1c.999A>G (p.Pro333=)
c.1269A>G (p.Pro423=)
c.747A>G (p.Pro249=)
n.544A>G
c.1311A>G (p.Pro437=)
c.274A>G
c.480A>G (p.Pro160=)
12g.51919007A>TCA479813825ACVRL1c.999A>T (p.Pro333=)
c.1269A>T (p.Pro423=)
c.747A>T (p.Pro249=)
n.544A>T
c.1311A>T (p.Pro437=)
c.274A>T
c.480A>T (p.Pro160=)
12g.51919008C>ACA384903725ACVRL1c.1000C>A (p.Pro334Thr)
c.1270C>A (p.Pro424Thr)
c.748C>A (p.Pro250Thr)
n.545C>A
c.1312C>A (p.Pro438Thr)
c.275C>A
c.481C>A (p.Pro161Thr)
 ClinVar dbSNP
12g.51919008C=CA2036239712ACVRL1c.1000C= (p.Pro334=)
c.1270C= (p.Pro424=)
c.748C= (p.Pro250=)
n.545C=
c.1312C= (p.Pro438=)
c.275C=
c.481C= (p.Pro161=)
12g.51919008C>GCA384903726ACVRL1c.1000C>G (p.Pro334Ala)
c.1270C>G (p.Pro424Ala)
c.748C>G (p.Pro250Ala)
n.545C>G
c.1312C>G (p.Pro438Ala)
c.275C>G
c.481C>G (p.Pro161Ala)
 ClinVar dbSNP
12g.51919008C>TCA384903729ACVRL1c.1000C>T (p.Pro334Ser)
c.1270C>T (p.Pro424Ser)
c.748C>T (p.Pro250Ser)
n.545C>T
c.1312C>T (p.Pro438Ser)
c.275C>T
c.481C>T (p.Pro161Ser)
 ClinVar dbSNP
12g.51919008_51919028delCA2695216694ACVRL1c.1000_1020del (p.Pro334_Pro340del)
c.1270_1290del (p.Pro424_Pro430del)
c.748_768del (p.Pro250_Pro256del)
n.545_565del
c.1312_1332del (p.Pro438_Pro444del)
c.275_295del
c.481_501del (p.Pro161_Pro167del)
12g.51919009C>ACA384903733ACVRL1c.1001C>A (p.Pro334His)
c.1271C>A (p.Pro424His)
c.749C>A (p.Pro250His)
n.546C>A
c.1313C>A (p.Pro438His)
c.276C>A
c.482C>A (p.Pro161His)
12g.51919009C=CA2036239724ACVRL1c.1001C= (p.Pro334=)
c.1271C= (p.Pro424=)
c.749C= (p.Pro250=)
n.546C=
c.1313C= (p.Pro438=)
c.276C=
c.482C= (p.Pro161=)
12g.51919009C>GCA384903736ACVRL1c.1001C>G (p.Pro334Arg)
c.1271C>G (p.Pro424Arg)
c.749C>G (p.Pro250Arg)
n.546C>G
c.1313C>G (p.Pro438Arg)
c.276C>G
c.482C>G (p.Pro161Arg)
 ClinVar dbSNP
12g.51919009C>TCA384903738ACVRL1c.1001C>T (p.Pro334Leu)
c.1271C>T (p.Pro424Leu)
c.749C>T (p.Pro250Leu)
n.546C>T
c.1313C>T (p.Pro438Leu)
c.276C>T
c.482C>T (p.Pro161Leu)
 ClinVar
12g.51919010C>ACA479813850ACVRL1c.1002C>A (p.Pro334=)
c.1272C>A (p.Pro424=)
c.750C>A (p.Pro250=)
n.547C>A
c.1314C>A (p.Pro438=)
c.277C>A
c.483C>A (p.Pro161=)
12g.51919010C>GCA479813852ACVRL1c.1002C>G (p.Pro334=)
c.1272C>G (p.Pro424=)
c.750C>G (p.Pro250=)
n.547C>G
c.1314C>G (p.Pro438=)
c.277C>G
c.483C>G (p.Pro161=)
12g.51919010C>TCA479813855ACVRL1c.1002C>T (p.Pro334=)
c.1272C>T (p.Pro424=)
c.750C>T (p.Pro250=)
n.547C>T
c.1314C>T (p.Pro438=)
c.277C>T
c.483C>T (p.Pro161=)
 gnomAD v4 COSMIC COSMIC
12g.51919012_51919014delCA2695216695ACVRL1c.1004_1006del (p.Phe335del)
c.1274_1276del (p.Phe425del)
c.752_754del (p.Phe251del)
n.549_551del
c.1316_1318del (p.Phe439del)
c.279_281del
c.485_487del (p.Phe162del)
12g.51919010_51919011insAGAGGAGAGCCTCA2534719446ACVRL1c.1002_1003insAGAGGAGAGCCT (p.Pro334_Phe335insArgGlyGluPro)
c.1272_1273insAGAGGAGAGCCT (p.Pro424_Phe425insArgGlyGluPro)
c.750_751insAGAGGAGAGCCT (p.Pro250_Phe251insArgGlyGluPro)
n.547_548insAGAGGAGAGCCT
c.1314_1315insAGAGGAGAGCCT (p.Pro438_Phe439insArgGlyGluPro)
c.277_278insAGAGGAGAGCCT
c.483_484insAGAGGAGAGCCT (p.Pro161_Phe162insArgGlyGluPro)
12g.51919011T>ACA384903744ACVRL1c.1003T>A (p.Phe335Ile)
c.1273T>A (p.Phe425Ile)
c.751T>A (p.Phe251Ile)
n.548T>A
c.1315T>A (p.Phe439Ile)
c.278T>A
c.484T>A (p.Phe162Ile)
 ClinVar
12g.51919011T>CCA384903742ACVRL1c.1003T>C (p.Phe335Leu)
c.1273T>C (p.Phe425Leu)
c.751T>C (p.Phe251Leu)
n.548T>C
c.1315T>C (p.Phe439Leu)
c.278T>C
c.484T>C (p.Phe162Leu)
12g.51919011T>GCA384903743ACVRL1c.1003T>G (p.Phe335Val)
c.1273T>G (p.Phe425Val)
c.751T>G (p.Phe251Val)
n.548T>G
c.1315T>G (p.Phe439Val)
c.278T>G
c.484T>G (p.Phe162Val)
12g.51919012T>ACA384903758ACVRL1c.1004T>A (p.Phe335Tyr)
c.1274T>A (p.Phe425Tyr)
c.752T>A (p.Phe251Tyr)
n.549T>A
c.1316T>A (p.Phe439Tyr)
c.279T>A
c.485T>A (p.Phe162Tyr)
12g.51919012T>CCA384903760ACVRL1c.1004T>C (p.Phe335Ser)
c.1274T>C (p.Phe425Ser)
c.752T>C (p.Phe251Ser)
n.549T>C
c.1316T>C (p.Phe439Ser)
c.279T>C
c.485T>C (p.Phe162Ser)
12g.51919012T>GCA384903764ACVRL1c.1004T>G (p.Phe335Cys)
c.1274T>G (p.Phe425Cys)
c.752T>G (p.Phe251Cys)
n.549T>G
c.1316T>G (p.Phe439Cys)
c.279T>G
c.485T>G (p.Phe162Cys)
12g.51919013C>ACA384903765ACVRL1c.1005C>A (p.Phe335Leu)
c.1275C>A (p.Phe425Leu)
c.753C>A (p.Phe251Leu)
n.550C>A
c.1317C>A (p.Phe439Leu)
c.280C>A
c.486C>A (p.Phe162Leu)
12g.51919013C=CA2036239735ACVRL1c.1005C= (p.Phe335=)
c.1275C= (p.Phe425=)
c.753C= (p.Phe251=)
n.550C=
c.1317C= (p.Phe439=)
c.280C=
c.486C= (p.Phe162=)
12g.51919013C>GCA384903767ACVRL1c.1005C>G (p.Phe335Leu)
c.1275C>G (p.Phe425Leu)
c.753C>G (p.Phe251Leu)
n.550C>G
c.1317C>G (p.Phe439Leu)
c.280C>G
c.486C>G (p.Phe162Leu)
 ClinVar
12g.51919013C>TCA6573118ACVRL1c.1005C>T (p.Phe335=)
c.1275C>T (p.Phe425=)
c.753C>T (p.Phe251=)
n.550C>T
c.1317C>T (p.Phe439=)
c.280C>T
c.486C>T (p.Phe162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51919014T>ACA384903768ACVRL1c.1006T>A (p.Tyr336Asn)
c.1276T>A (p.Tyr426Asn)
c.754T>A (p.Tyr252Asn)
n.551T>A
c.1318T>A (p.Tyr440Asn)
c.281T>A
c.487T>A (p.Tyr163Asn)
 ClinVar dbSNP
12g.51919014T>CCA384903769ACVRL1c.1006T>C (p.Tyr336His)
c.1276T>C (p.Tyr426His)
c.754T>C (p.Tyr252His)
n.551T>C
c.1318T>C (p.Tyr440His)
c.281T>C
c.487T>C (p.Tyr163His)
12g.51919014T>GCA384903772ACVRL1c.1006T>G (p.Tyr336Asp)
c.1276T>G (p.Tyr426Asp)
c.754T>G (p.Tyr252Asp)
n.551T>G
c.1318T>G (p.Tyr440Asp)
c.281T>G
c.487T>G (p.Tyr163Asp)
12g.51919014T=CA2036239747ACVRL1c.1006T= (p.Tyr336=)
c.1276T= (p.Tyr426=)
c.754T= (p.Tyr252=)
n.551T=
c.1318T= (p.Tyr440=)
c.281T=
c.487T= (p.Tyr163=)
12g.51919015A=CA2036239755ACVRL1c.1007A= (p.Tyr336=)
c.1277A= (p.Tyr426=)
c.755A= (p.Tyr252=)
n.552A=
c.1319A= (p.Tyr440=)
c.282A=
c.488A= (p.Tyr163=)
12g.51919015A>CCA384903773ACVRL1c.1007A>C (p.Tyr336Ser)
c.1277A>C (p.Tyr426Ser)
c.755A>C (p.Tyr252Ser)
n.552A>C
c.1319A>C (p.Tyr440Ser)
c.282A>C
c.488A>C (p.Tyr163Ser)
12g.51919015A>GCA384903776ACVRL1c.1007A>G (p.Tyr336Cys)
c.1277A>G (p.Tyr426Cys)
c.755A>G (p.Tyr252Cys)
n.552A>G
c.1319A>G (p.Tyr440Cys)
c.282A>G
c.488A>G (p.Tyr163Cys)
 ClinVar dbSNP
12g.51919015A>TCA6573119ACVRL1c.1007A>T (p.Tyr336Phe)
c.1277A>T (p.Tyr426Phe)
c.755A>T (p.Tyr252Phe)
n.552A>T
c.1319A>T (p.Tyr440Phe)
c.282A>T
c.488A>T (p.Tyr163Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51919016T>ACA384903791ACVRL1c.1008T>A (p.Tyr336Ter)
c.1278T>A (p.Tyr426Ter)
c.756T>A (p.Tyr252Ter)
n.553T>A
c.1320T>A (p.Tyr440Ter)
c.283T>A
c.489T>A (p.Tyr163Ter)
12g.51919016T>CCA479813894ACVRL1c.1008T>C (p.Tyr336=)
c.1278T>C (p.Tyr426=)
c.756T>C (p.Tyr252=)
n.553T>C
c.1320T>C (p.Tyr440=)
c.283T>C
c.489T>C (p.Tyr163=)
 dbSNP gnomAD v2 gnomAD v4
12g.51919016T>GCA384903790ACVRL1c.1008T>G (p.Tyr336Ter)
c.1278T>G (p.Tyr426Ter)
c.756T>G (p.Tyr252Ter)
n.553T>G
c.1320T>G (p.Tyr440Ter)
c.283T>G
c.489T>G (p.Tyr163Ter)
 COSMIC COSMIC
12g.51919016T=CA2036239764ACVRL1c.1008T= (p.Tyr336=)
c.1278T= (p.Tyr426=)
c.756T= (p.Tyr252=)
n.553T=
c.1320T= (p.Tyr440=)
c.283T=
c.489T= (p.Tyr163=)
12g.51919017G>ACA384903793ACVRL1c.1009G>A (p.Asp337Asn)
c.1279G>A (p.Asp427Asn)
c.757G>A (p.Asp253Asn)
n.554G>A
c.1321G>A (p.Asp441Asn)
c.284G>A
c.490G>A (p.Asp164Asn)
12g.51919017G>CCA384903795ACVRL1c.1009G>C (p.Asp337His)
c.1279G>C (p.Asp427His)
c.757G>C (p.Asp253His)
n.554G>C
c.1321G>C (p.Asp441His)
c.284G>C
c.490G>C (p.Asp164His)
12g.51919017G>TCA384903794ACVRL1c.1009G>T (p.Asp337Tyr)
c.1279G>T (p.Asp427Tyr)
c.757G>T (p.Asp253Tyr)
n.554G>T
c.1321G>T (p.Asp441Tyr)
c.284G>T
c.490G>T (p.Asp164Tyr)
12g.51919018A=CA2036239768ACVRL1c.1010A= (p.Asp337=)
c.1280A= (p.Asp427=)
c.758A= (p.Asp253=)
n.555A=
c.1322A= (p.Asp441=)
c.285A=
c.491A= (p.Asp164=)
12g.51919018A>CCA384903796ACVRL1c.1010A>C (p.Asp337Ala)
c.1280A>C (p.Asp427Ala)
c.758A>C (p.Asp253Ala)
n.555A>C
c.1322A>C (p.Asp441Ala)
c.285A>C
c.491A>C (p.Asp164Ala)
12g.51919018A>GCA384903797ACVRL1c.1010A>G (p.Asp337Gly)
c.1280A>G (p.Asp427Gly)
c.758A>G (p.Asp253Gly)
n.555A>G
c.1322A>G (p.Asp441Gly)
c.285A>G
c.491A>G (p.Asp164Gly)
 gnomAD v4
12g.51919018A>TCA384903799ACVRL1c.1010A>T (p.Asp337Val)
c.1280A>T (p.Asp427Val)
c.758A>T (p.Asp253Val)
n.555A>T
c.1322A>T (p.Asp441Val)
c.285A>T
c.491A>T (p.Asp164Val)
 ClinVar dbSNP
12g.51919019T>ACA384903801ACVRL1c.1011T>A (p.Asp337Glu)
c.1281T>A (p.Asp427Glu)
c.759T>A (p.Asp253Glu)
n.556T>A
c.1323T>A (p.Asp441Glu)
c.286T>A
c.492T>A (p.Asp164Glu)
12g.51919019T>CCA479813915ACVRL1c.1011T>C (p.Asp337=)
c.1281T>C (p.Asp427=)
c.759T>C (p.Asp253=)
n.556T>C
c.1323T>C (p.Asp441=)
c.286T>C
c.492T>C (p.Asp164=)
 COSMIC
12g.51919019T>GCA384903808ACVRL1c.1011T>G (p.Asp337Glu)
c.1281T>G (p.Asp427Glu)
c.759T>G (p.Asp253Glu)
n.556T>G
c.1323T>G (p.Asp441Glu)
c.286T>G
c.492T>G (p.Asp164Glu)
12g.51919020G>ACA384903809ACVRL1c.1012G>A (p.Val338Met)
c.1282G>A (p.Val428Met)
c.760G>A (p.Val254Met)
n.557G>A
c.1324G>A (p.Val442Met)
c.287G>A
c.493G>A (p.Val165Met)
 dbSNP gnomAD v4
12g.51919020G>CCA384903810ACVRL1c.1012G>C (p.Val338Leu)
c.1282G>C (p.Val428Leu)
c.760G>C (p.Val254Leu)
n.557G>C
c.1324G>C (p.Val442Leu)
c.287G>C
c.493G>C (p.Val165Leu)
12g.51919020G=CA2036239772ACVRL1c.1012G= (p.Val338=)
c.1282G= (p.Val428=)
c.760G= (p.Val254=)
n.557G=
c.1324G= (p.Val442=)
c.287G=
c.493G= (p.Val165=)
12g.51919020G>TCA384903813ACVRL1c.1012G>T (p.Val338Leu)
c.1282G>T (p.Val428Leu)
c.760G>T (p.Val254Leu)
n.557G>T
c.1324G>T (p.Val442Leu)
c.287G>T
c.493G>T (p.Val165Leu)
12g.51919021T>ACA384903815ACVRL1c.1013T>A (p.Val338Glu)
c.1283T>A (p.Val428Glu)
c.761T>A (p.Val254Glu)
n.558T>A
c.1325T>A (p.Val442Glu)
c.288T>A
c.494T>A (p.Val165Glu)
12g.51919021T>CCA384903818ACVRL1c.1013T>C (p.Val338Ala)
c.1283T>C (p.Val428Ala)
c.761T>C (p.Val254Ala)
n.558T>C
c.1325T>C (p.Val442Ala)
c.288T>C
c.494T>C (p.Val165Ala)
 dbSNP
12g.51919021T>GCA384903823ACVRL1c.1013T>G (p.Val338Gly)
c.1283T>G (p.Val428Gly)
c.761T>G (p.Val254Gly)
n.558T>G
c.1325T>G (p.Val442Gly)
c.288T>G
c.494T>G (p.Val165Gly)
12g.51919021T=CA2036239774ACVRL1c.1013T= (p.Val338=)
c.1283T= (p.Val428=)
c.761T= (p.Val254=)
n.558T=
c.1325T= (p.Val442=)
c.288T=
c.494T= (p.Val165=)
12g.51919022G>ACA479813932ACVRL1c.1014G>A (p.Val338=)
c.1284G>A (p.Val428=)
c.762G>A (p.Val254=)
n.559G>A
c.1326G>A (p.Val442=)
c.289G>A
c.495G>A (p.Val165=)
12g.51919022G>CCA479813936ACVRL1c.1014G>C (p.Val338=)
c.1284G>C (p.Val428=)
c.762G>C (p.Val254=)
n.559G>C
c.1326G>C (p.Val442=)
c.289G>C
c.495G>C (p.Val165=)
12g.51919022G>TCA479813946ACVRL1c.1014G>T (p.Val338=)
c.1284G>T (p.Val428=)
c.762G>T (p.Val254=)
n.559G>T
c.1326G>T (p.Val442=)
c.289G>T
c.495G>T (p.Val165=)
12g.51919023G>ACA384903830ACVRL1c.1015G>A (p.Val339Met)
c.1285G>A (p.Val429Met)
c.763G>A (p.Val255Met)
n.560G>A
c.1327G>A (p.Val443Met)
c.290G>A
c.496G>A (p.Val166Met)
 dbSNP gnomAD v4
12g.51919023G>CCA384903829ACVRL1c.1015G>C (p.Val339Leu)
c.1285G>C (p.Val429Leu)
c.763G>C (p.Val255Leu)
n.560G>C
c.1327G>C (p.Val443Leu)
c.290G>C
c.496G>C (p.Val166Leu)
12g.51919023G=CA2036239778ACVRL1c.1015G= (p.Val339=)
c.1285G= (p.Val429=)
c.763G= (p.Val255=)
n.560G=
c.1327G= (p.Val443=)
c.290G=
c.496G= (p.Val166=)
12g.51919023G>TCA384903827ACVRL1c.1015G>T (p.Val339Leu)
c.1285G>T (p.Val429Leu)
c.763G>T (p.Val255Leu)
n.560G>T
c.1327G>T (p.Val443Leu)
c.290G>T
c.496G>T (p.Val166Leu)
 ClinVar dbSNP
12g.51919024T>ACA384903833ACVRL1c.1016T>A (p.Val339Glu)
c.1286T>A (p.Val429Glu)
c.764T>A (p.Val255Glu)
n.561T>A
c.1328T>A (p.Val443Glu)
c.291T>A
c.497T>A (p.Val166Glu)
12g.51919024T>CCA384903835ACVRL1c.1016T>C (p.Val339Ala)
c.1286T>C (p.Val429Ala)
c.764T>C (p.Val255Ala)
n.561T>C
c.1328T>C (p.Val443Ala)
c.291T>C
c.497T>C (p.Val166Ala)
12g.51919024T>GCA384903836ACVRL1c.1016T>G (p.Val339Gly)
c.1286T>G (p.Val429Gly)
c.764T>G (p.Val255Gly)
n.561T>G
c.1328T>G (p.Val443Gly)
c.291T>G
c.497T>G (p.Val166Gly)
12g.51919025G>ACA479813962ACVRL1c.1017G>A (p.Val339=)
c.1287G>A (p.Val429=)
c.765G>A (p.Val255=)
n.562G>A
c.1329G>A (p.Val443=)
c.292G>A
c.498G>A (p.Val166=)
 gnomAD v4
12g.51919025G>CCA479813964ACVRL1c.1017G>C (p.Val339=)
c.1287G>C (p.Val429=)
c.765G>C (p.Val255=)
n.562G>C
c.1329G>C (p.Val443=)
c.292G>C
c.498G>C (p.Val166=)
12g.51919025G>TCA479813967ACVRL1c.1017G>T (p.Val339=)
c.1287G>T (p.Val429=)
c.765G>T (p.Val255=)
n.562G>T
c.1329G>T (p.Val443=)
c.292G>T
c.498G>T (p.Val166=)
 COSMIC

Number of alleles fetched