Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51918929G>A | CA236366566 | ACVRL1 | c.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 |
12 | g.51918929G= | CA2036239583 | ACVRL1 | c.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=) | |
12 | g.51918929G>T | CA2523478312 | ACVRL1 | c.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) | |
12 | g.51918930G>A | CA2618859860 | ACVRL1 | c.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 |
12 | g.51918930G>T | CA2618859861 | ACVRL1 | c.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 |
12 | g.51918931T>G | CA2036239587 | ACVRL1 | c.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 |
12 | g.51918931T= | CA2036239586 | ACVRL1 | c.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=) | |
12 | g.51918932A= | CA2036239588 | ACVRL1 | c.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=) | |
12 | g.51918932A>G | CA236366569 | ACVRL1 | c.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 |
12 | g.51918932A>T | CA2618859862 | ACVRL1 | c.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 |
12 | g.51918935G>T | CA2575161571 | ACVRL1 | c.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) | |
12 | g.51918935_51918936insTCCCAAGTGATT | CA2618859863 | ACVRL1 | c.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 |
12 | g.51918936G>A | CA6573106 | ACVRL1 | c.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 |
12 | g.51918936G= | CA2036239591 | ACVRL1 | c.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=) | |
12 | g.51918936G>T | CA2575161572 | ACVRL1 | c.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) | |
12 | g.51918937G>A | CA6573107 | ACVRL1 | c.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 |
12 | g.51918937G= | CA2036239593 | ACVRL1 | c.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=) | |
12 | g.51918937G>T | CA2618859869 | ACVRL1 | c.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 |
12 | g.51918939C>A | CA2618859871 | ACVRL1 | c.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 |
12 | g.51918939C= | CA2036239596 | ACVRL1 | c.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=) | |
12 | g.51918939C>T | CA6573108 | ACVRL1 | c.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 |
12 | g.51918940T>C | CA2618859875 | ACVRL1 | c.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 |
12 | g.51918940_51918941insGT | CA2618859874 | ACVRL1 | c.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 |
12 | g.51918941C= | CA2036239600 | ACVRL1 | c.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=) | |
12 | g.51918941C>T | CA689768364 | ACVRL1 | c.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 |
12 | g.51918942C= | CA2036239602 | ACVRL1 | c.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=) | |
12 | g.51918942C>T | CA6573109 | ACVRL1 | c.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 |
12 | g.51918947A>C | CA2618859878 | ACVRL1 | c.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 |
12 | g.51918948G>A | CA2618859879 | ACVRL1 | c.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 |
12 | g.51918949T>G | CA605052574 | ACVRL1 | c.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 |
12 | g.51918949T= | CA2036239605 | ACVRL1 | c.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=) | |
12 | g.51918953A= | CA2036239610 | ACVRL1 | c.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=) | |
12 | g.51918953A>T | CA6573110 | ACVRL1 | c.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 |
12 | g.51918954A>G | CA2618859880 | ACVRL1 | c.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 |
12 | g.51918955G>A | CA605052576 | ACVRL1 | c.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 |
12 | g.51918955G= | CA2036239612 | ACVRL1 | c.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=) | |
12 | g.51918957G>C | CA2726344737 | ACVRL1 | c.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 |
12 | g.51918959T>C | CA2618859881 | ACVRL1 | c.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 |
12 | g.51918960T>C | CA2575161574 | ACVRL1 | c.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) | |
12 | g.51918960T>G | CA2575161575 | ACVRL1 | c.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 |
12 | g.51918963C>T | CA2618859882 | ACVRL1 | c.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 |
12 | g.51918965del | CA2618859883 | ACVRL1 | c.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 |
12 | g.51918969C= | CA2036239614 | ACVRL1 | c.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=) | |
12 | g.51918969C>T | CA2036239616 | ACVRL1 | c.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 |
12 | g.51918970A= | CA2036239619 | ACVRL1 | c.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=) | |
12 | g.51918970A>G | CA6573111 | ACVRL1 | c.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 |
12 | g.51918970_51918971delinsAT | CA2036239623 | ACVRL1 | c.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) | |
12 | g.51918972del | CA6573112 | ACVRL1 | c.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 |
12 | g.51918972T>G | CA6573113 | ACVRL1 | c.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 |
12 | g.51918972T= | CA2036239628 | ACVRL1 | c.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=) | |
12 | g.51918973C= | CA2036239631 | ACVRL1 | c.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=) | |
12 | g.51918973C>G | CA2618859884 | ACVRL1 | c.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 |
12 | g.51918973C>T | CA2036239633 | ACVRL1 | c.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 |
12 | g.51918974T>A | CA2575161578 | ACVRL1 | c.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) | |
12 | g.51918974T>G | CA605052578 | ACVRL1 | c.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 |
12 | g.51918974T= | CA2036239636 | ACVRL1 | c.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=) | |
12 | g.51918975C= | CA2036239638 | ACVRL1 | c.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=) | |
12 | g.51918975C>T | CA6573114 | ACVRL1 | c.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 |
12 | g.51918976C= | CA2036239640 | ACVRL1 | c.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=) | |
12 | g.51918976C>T | CA236366592 | ACVRL1 | c.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 |
12 | g.51918978T>A | CA2795983270 | ACVRL1 | c.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) | |
12 | g.51918978T>C | CA605052580 | ACVRL1 | c.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 |
12 | g.51918978T>G | CA2580611961 | ACVRL1 | c.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 |
12 | g.51918978T= | CA2036239644 | ACVRL1 | c.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=) | |
12 | g.51918980T>C | CA6573115 | ACVRL1 | c.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 |
12 | g.51918980T= | CA2036239646 | ACVRL1 | c.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=) | |
12 | g.51918981C>A | CA947667562 | ACVRL1 | c.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 |
12 | g.51918981C= | CA2036239650 | ACVRL1 | c.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=) | |
12 | g.51918981C>T | CA2036239652 | ACVRL1 | c.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 |
12 | g.51918982C>T | CA2575161579 | ACVRL1 | c.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) | |
12 | g.51918983A>C | CA384903584 | ACVRL1 | c.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) | |
12 | g.51918983A>G | CA384903587 | ACVRL1 | c.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) | |
12 | g.51918983A>T | CA384903590 | ACVRL1 | c.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) | |
12 | g.51918984G>A | CA384903595 | ACVRL1 | c.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) | |
12 | g.51918984G>C | CA384903592 | ACVRL1 | c.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 |
12 | g.51918984G>T | CA384903593 | ACVRL1 | c.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) | |
12 | g.51918985G>A | CA384903599 | ACVRL1 | c.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 |
12 | g.51918985G>C | CA384903601 | ACVRL1 | c.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 |
12 | g.51918985G= | CA2036239657 | ACVRL1 | c.977G= (p.Gly326=) c.1247G= (p.Gly416=) c.725G= (p.Gly242=) n.522G= c.1289G= (p.Gly430=) c.252G= c.458G= (p.Gly153=) | |
12 | g.51918985G>T | CA384903603 | ACVRL1 | c.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) | |
12 | g.51918985_51919005delinsGCATCGTGGAGGACTATAGAC | CA2036239656 | ACVRL1 | c.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=) | |
12 | g.51918986C>A | CA479813681 | ACVRL1 | c.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=) | |
12 | g.51918986C>G | CA479813670 | ACVRL1 | c.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=) | |
12 | g.51918986C>T | CA479813678 | ACVRL1 | c.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 |
12 | g.51918988_51919007del | CA658656295 | ACVRL1 | c.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 |
12 | g.51918987A= | CA2036239668 | ACVRL1 | c.979A= (p.Ile327=) c.1249A= (p.Ile417=) c.727A= (p.Ile243=) n.524A= c.1291A= (p.Ile431=) c.254A= c.460A= (p.Ile154=) | |
12 | g.51918987A>C | CA384903606 | ACVRL1 | c.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) | |
12 | g.51918987A>G | CA384903607 | ACVRL1 | c.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) | |
12 | g.51918987A>T | CA6573116 | ACVRL1 | c.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 |
12 | g.51918988T>A | CA384903608 | ACVRL1 | c.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) | |
12 | g.51918988T>C | CA384903609 | ACVRL1 | c.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) | |
12 | g.51918988T>G | CA384903611 | ACVRL1 | c.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) | |
12 | g.51918989C>A | CA479813700 | ACVRL1 | c.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=) | |
12 | g.51918989C= | CA2036239677 | ACVRL1 | c.981C= (p.Ile327=) c.1251C= (p.Ile417=) c.729C= (p.Ile243=) n.526C= c.1293C= (p.Ile431=) c.256C= c.462C= (p.Ile154=) | |
12 | g.51918989C>G | CA384903614 | ACVRL1 | c.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) | |
12 | g.51918989C>T | CA236366605 | ACVRL1 | c.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 |
12 | g.51918990G>A | CA6573117 | ACVRL1 | c.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 |
12 | g.51918990G>C | CA384903626 | ACVRL1 | c.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) | |
12 | g.51918990G= | CA2036239684 | ACVRL1 | c.982G= (p.Val328=) c.1252G= (p.Val418=) c.730G= (p.Val244=) n.527G= c.1294G= (p.Val432=) c.257G= c.463G= (p.Val155=) | |
12 | g.51918990G>T | CA384903623 | ACVRL1 | c.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 |
12 | g.51918991T>A | CA384903627 | ACVRL1 | c.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) | |
12 | g.51918991T>C | CA384903628 | ACVRL1 | c.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) | |
12 | g.51918991T>G | CA384903629 | ACVRL1 | c.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) | |
12 | g.51918992G>A | CA479813723 | ACVRL1 | c.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=) | |
12 | g.51918992G>C | CA479813727 | ACVRL1 | c.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=) | |
12 | g.51918992G>T | CA479813730 | ACVRL1 | c.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=) | |
12 | g.51918993G>A | CA384903631 | ACVRL1 | c.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) | |
12 | g.51918993G>C | CA384903633 | ACVRL1 | c.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) | |
12 | g.51918993G>T | CA384903635 | ACVRL1 | c.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) | |
12 | g.51918994A= | CA2036239688 | ACVRL1 | c.986A= (p.Glu329=) c.1256A= (p.Glu419=) c.734A= (p.Glu245=) n.531A= c.1298A= (p.Glu433=) c.261A= c.467A= (p.Glu156=) | |
12 | g.51918994A>C | CA384903646 | ACVRL1 | c.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) | |
12 | g.51918994A>G | CA384903638 | ACVRL1 | c.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 |
12 | g.51918994A>T | CA384903644 | ACVRL1 | c.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) | |
12 | g.51918995G>A | CA479813750 | ACVRL1 | c.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 |
12 | g.51918995G>C | CA384903648 | ACVRL1 | c.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) | |
12 | g.51918995G= | CA2036239690 | ACVRL1 | c.987G= (p.Glu329=) c.1257G= (p.Glu419=) c.735G= (p.Glu245=) n.532G= c.1299G= (p.Glu433=) c.262G= c.468G= (p.Glu156=) | |
12 | g.51918995G>T | CA384903650 | ACVRL1 | c.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) | |
12 | g.51918996G>A | CA384903653 | ACVRL1 | c.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 |
12 | g.51918996G>C | CA384903656 | ACVRL1 | c.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) | |
12 | g.51918996G= | CA2036239697 | ACVRL1 | c.988G= (p.Asp330=) c.1258G= (p.Asp420=) c.736G= (p.Asp246=) n.533G= c.1300G= (p.Asp434=) c.263G= c.469G= (p.Asp157=) | |
12 | g.51918996G>T | CA384903664 | ACVRL1 | c.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) | |
12 | g.51918997A= | CA2036239702 | ACVRL1 | c.989A= (p.Asp330=) c.1259A= (p.Asp420=) c.737A= (p.Asp246=) n.534A= c.1301A= (p.Asp434=) c.264A= c.470A= (p.Asp157=) | |
12 | g.51918997A>C | CA384903665 | ACVRL1 | c.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 |
12 | g.51918997A>G | CA384903667 | ACVRL1 | c.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) | |
12 | g.51918997A>T | CA384903666 | ACVRL1 | c.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) | |
12 | g.51918998del | CA2580086420 | ACVRL1 | c.990del (p.Tyr331IlefsTer18) c.1260del (p.Tyr421IlefsTer18) c.738del (p.Tyr247IlefsTer18) n.535del c.1302del (p.Tyr435IlefsTer18) c.265del c.471del (p.Tyr158IlefsTer18) | ClinVar |
12 | g.51918998C>A | CA384903669 | ACVRL1 | c.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) | |
12 | g.51918998C>G | CA384903671 | ACVRL1 | c.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) | |
12 | g.51918998C>T | CA479813783 | ACVRL1 | c.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=) | |
12 | g.51918999T>A | CA384903673 | ACVRL1 | c.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 |
12 | g.51918999T>C | CA384903676 | ACVRL1 | c.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) | |
12 | g.51918999T>G | CA384903682 | ACVRL1 | c.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 |
12 | g.51919000A>C | CA384903684 | ACVRL1 | c.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) | |
12 | g.51919000A>G | CA384903687 | ACVRL1 | c.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 |
12 | g.51919000A>T | CA384903689 | ACVRL1 | c.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) | |
12 | g.51919001T>A | CA384903692 | ACVRL1 | c.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) | |
12 | g.51919001T>C | CA236366613 | ACVRL1 | c.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 |
12 | g.51919001T>G | CA384903695 | ACVRL1 | c.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) | |
12 | g.51919001T= | CA2036239705 | ACVRL1 | c.993T= (p.Tyr331=) c.1263T= (p.Tyr421=) c.741T= (p.Tyr247=) n.538T= c.1305T= (p.Tyr435=) c.268T= c.474T= (p.Tyr158=) | |
12 | g.51919002A>C | CA479813804 | ACVRL1 | c.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=) | |
12 | g.51919002A>G | CA384903696 | ACVRL1 | c.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) | |
12 | g.51919002A>T | CA384903698 | ACVRL1 | c.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) | |
12 | g.51919003G>A | CA384903702 | ACVRL1 | c.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 |
12 | g.51919003G>C | CA384903701 | ACVRL1 | c.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) | |
12 | g.51919003G>T | CA384903699 | ACVRL1 | c.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 |
12 | g.51919004A>C | CA384903705 | ACVRL1 | c.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) | |
12 | g.51919004A>G | CA479813816 | ACVRL1 | c.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=) | |
12 | g.51919004A>T | CA384903707 | ACVRL1 | c.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) | |
12 | g.51919005C>A | CA384903710 | ACVRL1 | c.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) | |
12 | g.51919005C>G | CA384903712 | ACVRL1 | c.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) | |
12 | g.51919005C>T | CA384903714 | ACVRL1 | c.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) | |
12 | g.51919006C>A | CA384903716 | ACVRL1 | c.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) | |
12 | g.51919006C= | CA2036239708 | ACVRL1 | c.998C= (p.Pro333=) c.1268C= (p.Pro423=) c.746C= (p.Pro249=) n.543C= c.1310C= (p.Pro437=) c.273C= c.479C= (p.Pro160=) | |
12 | g.51919006C>G | CA384903719 | ACVRL1 | c.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) | |
12 | g.51919006C>T | CA384903724 | ACVRL1 | c.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 |
12 | g.51919007del | CA2695216693 | ACVRL1 | c.999del (p.Phe335SerfsTer14) c.1269del (p.Phe425SerfsTer14) c.747del (p.Phe251SerfsTer14) n.544del c.1311del (p.Phe439SerfsTer14) c.274del c.480del (p.Phe162SerfsTer14) | |
12 | g.51919007A>C | CA479813835 | ACVRL1 | c.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=) | |
12 | g.51919007A>G | CA479813831 | ACVRL1 | c.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=) | |
12 | g.51919007A>T | CA479813825 | ACVRL1 | c.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=) | |
12 | g.51919008C>A | CA384903725 | ACVRL1 | c.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 |
12 | g.51919008C= | CA2036239712 | ACVRL1 | c.1000C= (p.Pro334=) c.1270C= (p.Pro424=) c.748C= (p.Pro250=) n.545C= c.1312C= (p.Pro438=) c.275C= c.481C= (p.Pro161=) | |
12 | g.51919008C>G | CA384903726 | ACVRL1 | c.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 |
12 | g.51919008C>T | CA384903729 | ACVRL1 | c.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 |
12 | g.51919008_51919028del | CA2695216694 | ACVRL1 | c.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) | |
12 | g.51919009C>A | CA384903733 | ACVRL1 | c.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) | |
12 | g.51919009C= | CA2036239724 | ACVRL1 | c.1001C= (p.Pro334=) c.1271C= (p.Pro424=) c.749C= (p.Pro250=) n.546C= c.1313C= (p.Pro438=) c.276C= c.482C= (p.Pro161=) | |
12 | g.51919009C>G | CA384903736 | ACVRL1 | c.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 |
12 | g.51919009C>T | CA384903738 | ACVRL1 | c.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 |
12 | g.51919010C>A | CA479813850 | ACVRL1 | c.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=) | |
12 | g.51919010C>G | CA479813852 | ACVRL1 | c.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=) | |
12 | g.51919010C>T | CA479813855 | ACVRL1 | c.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 |
12 | g.51919012_51919014del | CA2695216695 | ACVRL1 | c.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) | |
12 | g.51919010_51919011insAGAGGAGAGCCT | CA2534719446 | ACVRL1 | c.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) | |
12 | g.51919011T>A | CA384903744 | ACVRL1 | c.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 |
12 | g.51919011T>C | CA384903742 | ACVRL1 | c.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) | |
12 | g.51919011T>G | CA384903743 | ACVRL1 | c.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) | |
12 | g.51919012T>A | CA384903758 | ACVRL1 | c.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) | |
12 | g.51919012T>C | CA384903760 | ACVRL1 | c.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) | |
12 | g.51919012T>G | CA384903764 | ACVRL1 | c.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) | |
12 | g.51919013C>A | CA384903765 | ACVRL1 | c.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) | |
12 | g.51919013C= | CA2036239735 | ACVRL1 | c.1005C= (p.Phe335=) c.1275C= (p.Phe425=) c.753C= (p.Phe251=) n.550C= c.1317C= (p.Phe439=) c.280C= c.486C= (p.Phe162=) | |
12 | g.51919013C>G | CA384903767 | ACVRL1 | c.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 |
12 | g.51919013C>T | CA6573118 | ACVRL1 | c.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 |
12 | g.51919014T>A | CA384903768 | ACVRL1 | c.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 |
12 | g.51919014T>C | CA384903769 | ACVRL1 | c.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) | |
12 | g.51919014T>G | CA384903772 | ACVRL1 | c.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) | |
12 | g.51919014T= | CA2036239747 | ACVRL1 | c.1006T= (p.Tyr336=) c.1276T= (p.Tyr426=) c.754T= (p.Tyr252=) n.551T= c.1318T= (p.Tyr440=) c.281T= c.487T= (p.Tyr163=) | |
12 | g.51919015A= | CA2036239755 | ACVRL1 | c.1007A= (p.Tyr336=) c.1277A= (p.Tyr426=) c.755A= (p.Tyr252=) n.552A= c.1319A= (p.Tyr440=) c.282A= c.488A= (p.Tyr163=) | |
12 | g.51919015A>C | CA384903773 | ACVRL1 | c.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) | |
12 | g.51919015A>G | CA384903776 | ACVRL1 | c.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 |
12 | g.51919015A>T | CA6573119 | ACVRL1 | c.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 |
12 | g.51919016T>A | CA384903791 | ACVRL1 | c.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) | |
12 | g.51919016T>C | CA479813894 | ACVRL1 | c.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 |
12 | g.51919016T>G | CA384903790 | ACVRL1 | c.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 |
12 | g.51919016T= | CA2036239764 | ACVRL1 | c.1008T= (p.Tyr336=) c.1278T= (p.Tyr426=) c.756T= (p.Tyr252=) n.553T= c.1320T= (p.Tyr440=) c.283T= c.489T= (p.Tyr163=) | |
12 | g.51919017G>A | CA384903793 | ACVRL1 | c.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) | |
12 | g.51919017G>C | CA384903795 | ACVRL1 | c.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) | |
12 | g.51919017G>T | CA384903794 | ACVRL1 | c.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) | |
12 | g.51919018A= | CA2036239768 | ACVRL1 | c.1010A= (p.Asp337=) c.1280A= (p.Asp427=) c.758A= (p.Asp253=) n.555A= c.1322A= (p.Asp441=) c.285A= c.491A= (p.Asp164=) | |
12 | g.51919018A>C | CA384903796 | ACVRL1 | c.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) | |
12 | g.51919018A>G | CA384903797 | ACVRL1 | c.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 |
12 | g.51919018A>T | CA384903799 | ACVRL1 | c.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 |
12 | g.51919019T>A | CA384903801 | ACVRL1 | c.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) | |
12 | g.51919019T>C | CA479813915 | ACVRL1 | c.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 |
12 | g.51919019T>G | CA384903808 | ACVRL1 | c.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) | |
12 | g.51919020G>A | CA384903809 | ACVRL1 | c.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 |
12 | g.51919020G>C | CA384903810 | ACVRL1 | c.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) | |
12 | g.51919020G= | CA2036239772 | ACVRL1 | c.1012G= (p.Val338=) c.1282G= (p.Val428=) c.760G= (p.Val254=) n.557G= c.1324G= (p.Val442=) c.287G= c.493G= (p.Val165=) | |
12 | g.51919020G>T | CA384903813 | ACVRL1 | c.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) | |
12 | g.51919021T>A | CA384903815 | ACVRL1 | c.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) | |
12 | g.51919021T>C | CA384903818 | ACVRL1 | c.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 |
12 | g.51919021T>G | CA384903823 | ACVRL1 | c.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) | |
12 | g.51919021T= | CA2036239774 | ACVRL1 | c.1013T= (p.Val338=) c.1283T= (p.Val428=) c.761T= (p.Val254=) n.558T= c.1325T= (p.Val442=) c.288T= c.494T= (p.Val165=) | |
12 | g.51919022G>A | CA479813932 | ACVRL1 | c.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=) | |
12 | g.51919022G>C | CA479813936 | ACVRL1 | c.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=) | |
12 | g.51919022G>T | CA479813946 | ACVRL1 | c.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=) | |
12 | g.51919023G>A | CA384903830 | ACVRL1 | c.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 |
12 | g.51919023G>C | CA384903829 | ACVRL1 | c.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) | |
12 | g.51919023G= | CA2036239778 | ACVRL1 | c.1015G= (p.Val339=) c.1285G= (p.Val429=) c.763G= (p.Val255=) n.560G= c.1327G= (p.Val443=) c.290G= c.496G= (p.Val166=) | |
12 | g.51919023G>T | CA384903827 | ACVRL1 | c.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 |
12 | g.51919024T>A | CA384903833 | ACVRL1 | c.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) | |
12 | g.51919024T>C | CA384903835 | ACVRL1 | c.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) | |
12 | g.51919024T>G | CA384903836 | ACVRL1 | c.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) | |
12 | g.51919025G>A | CA479813962 | ACVRL1 | c.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 |
12 | g.51919025G>C | CA479813964 | ACVRL1 | c.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=) | |
12 | g.51919025G>T | CA479813967 | ACVRL1 | c.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 |
12 | g.51919026C>A | CA384903839 | ACVRL1 | c.1018C>A (p.Pro340Thr) c.1288C>A (p.Pro430Thr) c.766C>A (p.Pro256Thr) n.563C>A c.1330C>A (p.Pro444Thr) c.293C>A c.499C>A (p.Pro167Thr) | |
12 | g.51919026C>G | CA384903842 | ACVRL1 | c.1018C>G (p.Pro340Ala) c.1288C>G (p.Pro430Ala) c.766C>G (p.Pro256Ala) n.563C>G c.1330C>G (p.Pro444Ala) c.293C>G c.499C>G (p.Pro167Ala) | |
12 | g.51919026C>T | CA384903844 | ACVRL1 | c.1018C>T (p.Pro340Ser) c.1288C>T (p.Pro430Ser) c.766C>T (p.Pro256Ser) n.563C>T c.1330C>T (p.Pro444Ser) c.293C>T c.499C>T (p.Pro167Ser) | |
12 | g.51919028del | CA479813976 | ACVRL1 | c.1020del (p.Asn341MetfsTer8) c.1290del (p.Asn431MetfsTer8) c.768del (p.Asn257MetfsTer8) n.565del c.1332del (p.Asn445MetfsTer8) c.295del c.501del (p.Asn168MetfsTer8) | COSMIC |
12 | g.51919027C>A | CA384903846 | ACVRL1 | c.1019C>A (p.Pro340His) c.1289C>A (p.Pro430His) c.767C>A (p.Pro256His) n.564C>A c.1331C>A (p.Pro444His) c.294C>A c.500C>A (p.Pro167His) | |
12 | g.51919027C>G | CA384903848 | ACVRL1 | c.1019C>G (p.Pro340Arg) c.1289C>G (p.Pro430Arg) c.767C>G (p.Pro256Arg) n.564C>G c.1331C>G (p.Pro444Arg) c.294C>G c.500C>G (p.Pro167Arg) | |
12 | g.51919027C>T | CA384903857 | ACVRL1 | c.1019C>T (p.Pro340Leu) c.1289C>T (p.Pro430Leu) c.767C>T (p.Pro256Leu) n.564C>T c.1331C>T (p.Pro444Leu) c.294C>T c.500C>T (p.Pro167Leu) | |
12 | g.51919028C>A | CA479813986 | ACVRL1 | c.1020C>A (p.Pro340=) c.1290C>A (p.Pro430=) c.768C>A (p.Pro256=) n.565C>A c.1332C>A (p.Pro444=) c.295C>A c.501C>A (p.Pro167=) | |
12 | g.51919028C>G | CA479813990 | ACVRL1 | c.1020C>G (p.Pro340=) c.1290C>G (p.Pro430=) c.768C>G (p.Pro256=) n.565C>G c.1332C>G (p.Pro444=) c.295C>G c.501C>G (p.Pro167=) | |
12 | g.51919028C>T | CA479813993 | ACVRL1 | c.1020C>T (p.Pro340=) c.1290C>T (p.Pro430=) c.768C>T (p.Pro256=) n.565C>T c.1332C>T (p.Pro444=) c.295C>T c.501C>T (p.Pro167=) | |
12 | g.51919029A>C | CA384903860 | ACVRL1 | c.1021A>C (p.Asn341His) c.1291A>C (p.Asn431His) c.769A>C (p.Asn257His) n.566A>C c.1333A>C (p.Asn445His) c.296A>C c.502A>C (p.Asn168His) | |
12 | g.51919029A>G | CA384903864 | ACVRL1 | c.1021A>G (p.Asn341Asp) c.1291A>G (p.Asn431Asp) c.769A>G (p.Asn257Asp) n.566A>G c.1333A>G (p.Asn445Asp) c.296A>G c.502A>G (p.Asn168Asp) | COSMIC COSMIC |
12 | g.51919029A>T | CA384903867 | ACVRL1 | c.1021A>T (p.Asn341Tyr) c.1291A>T (p.Asn431Tyr) c.769A>T (p.Asn257Tyr) n.566A>T c.1333A>T (p.Asn445Tyr) c.296A>T c.502A>T (p.Asn168Tyr) |