Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51914387_51914388delinsCA | CA2036268838 | ACVRL1 | c.356-52_356-51delinsCA (n.356-52_356-51delinsCA) c.626-52_626-51delinsCA (n.626-52_626-51delinsCA) c.104-52_104-51delinsCA (n.104-52_104-51delinsCA) c.668-52_668-51delinsCA (n.668-52_668-51delinsCA) c.-164-52_-164-51delinsCA (n.-164-52_-164-51delinsCA) | |
12 | g.51914388del | CA947665993 | ACVRL1 | c.356-51del (n.356-51del) c.626-51del (n.626-51del) c.104-51del (n.104-51del) c.668-51del (n.668-51del) c.-164-51del (n.-164-51del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51914388A>G | CA2618856352 | ACVRL1 | c.356-51A>G (n.356-51A>G) c.626-51A>G (n.626-51A>G) c.104-51A>G (n.104-51A>G) c.668-51A>G (n.668-51A>G) c.-164-51A>G (n.-164-51A>G) | gnomAD v4 |
12 | g.51914388A>T | CA2618856355 | ACVRL1 | c.356-51A>T (n.356-51A>T) c.626-51A>T (n.626-51A>T) c.104-51A>T (n.104-51A>T) c.668-51A>T (n.668-51A>T) c.-164-51A>T (n.-164-51A>T) | gnomAD v4 |
12 | g.51914389G>C | CA2618856358 | ACVRL1 | c.356-50G>C (n.356-50G>C) c.626-50G>C (n.626-50G>C) c.104-50G>C (n.104-50G>C) c.668-50G>C (n.668-50G>C) c.-164-50G>C (n.-164-50G>C) | gnomAD v4 |
12 | g.51914390G>A | CA2618856362 | ACVRL1 | c.356-49G>A (n.356-49G>A) c.626-49G>A (n.626-49G>A) c.104-49G>A (n.104-49G>A) c.668-49G>A (n.668-49G>A) c.-164-49G>A (n.-164-49G>A) | gnomAD v4 |
12 | g.51914391G>A | CA2618856365 | ACVRL1 | c.356-48G>A (n.356-48G>A) c.626-48G>A (n.626-48G>A) c.104-48G>A (n.104-48G>A) c.668-48G>A (n.668-48G>A) c.-164-48G>A (n.-164-48G>A) | gnomAD v4 |
12 | g.51914391G>T | CA2618856368 | ACVRL1 | c.356-48G>T (n.356-48G>T) c.626-48G>T (n.626-48G>T) c.104-48G>T (n.104-48G>T) c.668-48G>T (n.668-48G>T) c.-164-48G>T (n.-164-48G>T) | gnomAD v4 |
12 | g.51914392C= | CA2036268840 | ACVRL1 | c.356-47C= (n.356-47C=) c.626-47C= (n.626-47C=) c.104-47C= (n.104-47C=) c.668-47C= (n.668-47C=) c.-164-47C= (n.-164-47C=) | |
12 | g.51914392C>G | CA605051778 | ACVRL1 | c.356-47C>G (n.356-47C>G) c.626-47C>G (n.626-47C>G) c.104-47C>G (n.104-47C>G) c.668-47C>G (n.668-47C>G) c.-164-47C>G (n.-164-47C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914392C>T | CA2795982959 | ACVRL1 | c.356-47C>T (n.356-47C>T) c.626-47C>T (n.626-47C>T) c.104-47C>T (n.104-47C>T) c.668-47C>T (n.668-47C>T) c.-164-47C>T (n.-164-47C>T) | |
12 | g.51914393T>A | CA2575161442 | ACVRL1 | c.356-46T>A (n.356-46T>A) c.626-46T>A (n.626-46T>A) c.104-46T>A (n.104-46T>A) c.668-46T>A (n.668-46T>A) c.-164-46T>A (n.-164-46T>A) | |
12 | g.51914394C= | CA2036268842 | ACVRL1 | c.356-45C= (n.356-45C=) c.626-45C= (n.626-45C=) c.104-45C= (n.104-45C=) c.668-45C= (n.668-45C=) c.-164-45C= (n.-164-45C=) | |
12 | g.51914394C>T | CA6572952 | ACVRL1 | c.356-45C>T (n.356-45C>T) c.626-45C>T (n.626-45C>T) c.104-45C>T (n.104-45C>T) c.668-45C>T (n.668-45C>T) c.-164-45C>T (n.-164-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914396G>C | CA605051780 | ACVRL1 | c.356-43G>C (n.356-43G>C) c.626-43G>C (n.626-43G>C) c.104-43G>C (n.104-43G>C) c.668-43G>C (n.668-43G>C) c.-164-43G>C (n.-164-43G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51914396G= | CA2036268845 | ACVRL1 | c.356-43G= (n.356-43G=) c.626-43G= (n.626-43G=) c.104-43G= (n.104-43G=) c.668-43G= (n.668-43G=) c.-164-43G= (n.-164-43G=) | |
12 | g.51914398G>A | CA6572953 | ACVRL1 | c.356-41G>A (n.356-41G>A) c.626-41G>A (n.626-41G>A) c.104-41G>A (n.104-41G>A) c.668-41G>A (n.668-41G>A) c.-164-41G>A (n.-164-41G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914398G= | CA2036268848 | ACVRL1 | c.356-41G= (n.356-41G=) c.626-41G= (n.626-41G=) c.104-41G= (n.104-41G=) c.668-41G= (n.668-41G=) c.-164-41G= (n.-164-41G=) | |
12 | g.51914399del | CA2618856378 | ACVRL1 | c.356-40del (n.356-40del) c.626-40del (n.626-40del) c.104-40del (n.104-40del) c.668-40del (n.668-40del) c.-164-40del (n.-164-40del) | gnomAD v4 |
12 | g.51914401C= | CA2036268852 | ACVRL1 | c.356-38C= (n.356-38C=) c.626-38C= (n.626-38C=) c.104-38C= (n.104-38C=) c.668-38C= (n.668-38C=) c.-164-38C= (n.-164-38C=) | |
12 | g.51914401C>T | CA654740769 | ACVRL1 | c.356-38C>T (n.356-38C>T) c.626-38C>T (n.626-38C>T) c.104-38C>T (n.104-38C>T) c.668-38C>T (n.668-38C>T) c.-164-38C>T (n.-164-38C>T) | dbSNP COSMIC |
12 | g.51914403del | CA2575161443 | ACVRL1 | c.356-36del (n.356-36del) c.626-36del (n.626-36del) c.104-36del (n.104-36del) c.668-36del (n.668-36del) c.-164-36del (n.-164-36del) | |
12 | g.51914402C= | CA2036268854 | ACVRL1 | c.356-37C= (n.356-37C=) c.626-37C= (n.626-37C=) c.104-37C= (n.104-37C=) c.668-37C= (n.668-37C=) c.-164-37C= (n.-164-37C=) | |
12 | g.51914402C>T | CA689765286 | ACVRL1 | c.356-37C>T (n.356-37C>T) c.626-37C>T (n.626-37C>T) c.104-37C>T (n.104-37C>T) c.668-37C>T (n.668-37C>T) c.-164-37C>T (n.-164-37C>T) | dbSNP |
12 | g.51914403C>G | CA2575161444 | ACVRL1 | c.356-36C>G (n.356-36C>G) c.626-36C>G (n.626-36C>G) c.104-36C>G (n.104-36C>G) c.668-36C>G (n.668-36C>G) c.-164-36C>G (n.-164-36C>G) | |
12 | g.51914403_51914404delinsCA | CA2036268857 | ACVRL1 | c.356-36_356-35delinsCA (n.356-36_356-35delinsCA) c.626-36_626-35delinsCA (n.626-36_626-35delinsCA) c.104-36_104-35delinsCA (n.104-36_104-35delinsCA) c.668-36_668-35delinsCA (n.668-36_668-35delinsCA) c.-164-36_-164-35delinsCA (n.-164-36_-164-35delinsCA) | |
12 | g.51914403_51914405delinsCAG | CA2036268859 | ACVRL1 | c.356-36_356-34delinsCAG (n.356-36_356-34delinsCAG) c.626-36_626-34delinsCAG (n.626-36_626-34delinsCAG) c.104-36_104-34delinsCAG (n.104-36_104-34delinsCAG) c.668-36_668-34delinsCAG (n.668-36_668-34delinsCAG) c.-164-36_-164-34delinsCAG (n.-164-36_-164-34delinsCAG) | |
12 | g.51914404del | CA6572954 | ACVRL1 | c.356-35del (n.356-35del) c.626-35del (n.626-35del) c.104-35del (n.104-35del) c.668-35del (n.668-35del) c.-164-35del (n.-164-35del) | dbSNP ExAC gnomAD v2 |
12 | g.51914404A>G | CA2618856385 | ACVRL1 | c.356-35A>G (n.356-35A>G) c.626-35A>G (n.626-35A>G) c.104-35A>G (n.104-35A>G) c.668-35A>G (n.668-35A>G) c.-164-35A>G (n.-164-35A>G) | gnomAD v4 |
12 | g.51914404_51914405del | CA605051782 | ACVRL1 | c.356-35_356-34del (n.356-35_356-34del) c.626-35_626-34del (n.626-35_626-34del) c.104-35_104-34del (n.104-35_104-34del) c.668-35_668-34del (n.668-35_668-34del) c.-164-35_-164-34del (n.-164-35_-164-34del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51914405G>A | CA2575161445 | ACVRL1 | c.356-34G>A (n.356-34G>A) c.626-34G>A (n.626-34G>A) c.104-34G>A (n.104-34G>A) c.668-34G>A (n.668-34G>A) c.-164-34G>A (n.-164-34G>A) | |
12 | g.51914405G>C | CA2036268865 | ACVRL1 | c.356-34G>C (n.356-34G>C) c.626-34G>C (n.626-34G>C) c.104-34G>C (n.104-34G>C) c.668-34G>C (n.668-34G>C) c.-164-34G>C (n.-164-34G>C) | dbSNP gnomAD v4 |
12 | g.51914405G= | CA2036268866 | ACVRL1 | c.356-34G= (n.356-34G=) c.626-34G= (n.626-34G=) c.104-34G= (n.104-34G=) c.668-34G= (n.668-34G=) c.-164-34G= (n.-164-34G=) | |
12 | g.51914408T>A | CA2036268871 | ACVRL1 | c.356-31T>A (n.356-31T>A) c.626-31T>A (n.626-31T>A) c.104-31T>A (n.104-31T>A) c.668-31T>A (n.668-31T>A) c.-164-31T>A (n.-164-31T>A) | dbSNP |
12 | g.51914408T= | CA2036268868 | ACVRL1 | c.356-31T= (n.356-31T=) c.626-31T= (n.626-31T=) c.104-31T= (n.104-31T=) c.668-31T= (n.668-31T=) c.-164-31T= (n.-164-31T=) | |
12 | g.51914409G>A | CA2618856393 | ACVRL1 | c.356-30G>A (n.356-30G>A) c.626-30G>A (n.626-30G>A) c.104-30G>A (n.104-30G>A) c.668-30G>A (n.668-30G>A) c.-164-30G>A (n.-164-30G>A) | gnomAD v4 |
12 | g.51914410T>A | CA2618856397 | ACVRL1 | c.356-29T>A (n.356-29T>A) c.626-29T>A (n.626-29T>A) c.104-29T>A (n.104-29T>A) c.668-29T>A (n.668-29T>A) c.-164-29T>A (n.-164-29T>A) | gnomAD v4 |
12 | g.51914410T>C | CA2036268876 | ACVRL1 | c.356-29T>C (n.356-29T>C) c.626-29T>C (n.626-29T>C) c.104-29T>C (n.104-29T>C) c.668-29T>C (n.668-29T>C) c.-164-29T>C (n.-164-29T>C) | dbSNP gnomAD v4 |
12 | g.51914410T= | CA2036268874 | ACVRL1 | c.356-29T= (n.356-29T=) c.626-29T= (n.626-29T=) c.104-29T= (n.104-29T=) c.668-29T= (n.668-29T=) c.-164-29T= (n.-164-29T=) | |
12 | g.51914412A>C | CA2618856398 | ACVRL1 | c.356-27A>C (n.356-27A>C) c.626-27A>C (n.626-27A>C) c.104-27A>C (n.104-27A>C) c.668-27A>C (n.668-27A>C) c.-164-27A>C (n.-164-27A>C) | gnomAD v4 |
12 | g.51914413C>A | CA605051786 | ACVRL1 | c.356-26C>A (n.356-26C>A) c.626-26C>A (n.626-26C>A) c.104-26C>A (n.104-26C>A) c.668-26C>A (n.668-26C>A) c.-164-26C>A (n.-164-26C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914413C= | CA2036268880 | ACVRL1 | c.356-26C= (n.356-26C=) c.626-26C= (n.626-26C=) c.104-26C= (n.104-26C=) c.668-26C= (n.668-26C=) c.-164-26C= (n.-164-26C=) | |
12 | g.51914413C>T | CA6572955 | ACVRL1 | c.356-26C>T (n.356-26C>T) c.626-26C>T (n.626-26C>T) c.104-26C>T (n.104-26C>T) c.668-26C>T (n.668-26C>T) c.-164-26C>T (n.-164-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914414C>A | CA6572956 | ACVRL1 | c.356-25C>A (n.356-25C>A) c.626-25C>A (n.626-25C>A) c.104-25C>A (n.104-25C>A) c.668-25C>A (n.668-25C>A) c.-164-25C>A (n.-164-25C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914414C= | CA2036268883 | ACVRL1 | c.356-25C= (n.356-25C=) c.626-25C= (n.626-25C=) c.104-25C= (n.104-25C=) c.668-25C= (n.668-25C=) c.-164-25C= (n.-164-25C=) | |
12 | g.51914417C>T | CA2575161446 | ACVRL1 | c.356-22C>T (n.356-22C>T) c.626-22C>T (n.626-22C>T) c.104-22C>T (n.104-22C>T) c.668-22C>T (n.668-22C>T) c.-164-22C>T (n.-164-22C>T) | |
12 | g.51914418A= | CA2036268885 | ACVRL1 | c.356-21A= (n.356-21A=) c.626-21A= (n.626-21A=) c.104-21A= (n.104-21A=) c.668-21A= (n.668-21A=) c.-164-21A= (n.-164-21A=) | |
12 | g.51914418A>C | CA6572957 | ACVRL1 | c.356-21A>C (n.356-21A>C) c.626-21A>C (n.626-21A>C) c.104-21A>C (n.104-21A>C) c.668-21A>C (n.668-21A>C) c.-164-21A>C (n.-164-21A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914419C>A | CA236363352 | ACVRL1 | c.356-20C>A (n.356-20C>A) c.626-20C>A (n.626-20C>A) c.104-20C>A (n.104-20C>A) c.668-20C>A (n.668-20C>A) c.-164-20C>A (n.-164-20C>A) | dbSNP |
12 | g.51914419C= | CA2036268902 | ACVRL1 | c.356-20C= (n.356-20C=) c.626-20C= (n.626-20C=) c.104-20C= (n.104-20C=) c.668-20C= (n.668-20C=) c.-164-20C= (n.-164-20C=) | |
12 | g.51914419C>T | CA2575161447 | ACVRL1 | c.356-20C>T (n.356-20C>T) c.626-20C>T (n.626-20C>T) c.104-20C>T (n.104-20C>T) c.668-20C>T (n.668-20C>T) c.-164-20C>T (n.-164-20C>T) | |
12 | g.51914420C= | CA2036268905 | ACVRL1 | c.356-19C= (n.356-19C=) c.626-19C= (n.626-19C=) c.104-19C= (n.104-19C=) c.668-19C= (n.668-19C=) c.-164-19C= (n.-164-19C=) | |
12 | g.51914420C>T | CA605051789 | ACVRL1 | c.356-19C>T (n.356-19C>T) c.626-19C>T (n.626-19C>T) c.104-19C>T (n.104-19C>T) c.668-19C>T (n.668-19C>T) c.-164-19C>T (n.-164-19C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914421T>C | CA2618856412 | ACVRL1 | c.356-18T>C (n.356-18T>C) c.626-18T>C (n.626-18T>C) c.104-18T>C (n.104-18T>C) c.668-18T>C (n.668-18T>C) c.-164-18T>C (n.-164-18T>C) | gnomAD v4 |
12 | g.51914423C= | CA2036268909 | ACVRL1 | c.356-16C= (n.356-16C=) c.626-16C= (n.626-16C=) c.104-16C= (n.104-16C=) c.668-16C= (n.668-16C=) c.-164-16C= (n.-164-16C=) | |
12 | g.51914423C>T | CA6572958 | ACVRL1 | c.356-16C>T (n.356-16C>T) c.626-16C>T (n.626-16C>T) c.104-16C>T (n.104-16C>T) c.668-16C>T (n.668-16C>T) c.-164-16C>T (n.-164-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914426del | CA2726350389 | ACVRL1 | c.356-13del (n.356-13del) c.626-13del (n.626-13del) c.104-13del (n.104-13del) c.668-13del (n.668-13del) c.-164-13del (n.-164-13del) | dbSNP |
12 | g.51914424C>T | CA2575161448 | ACVRL1 | c.356-15C>T (n.356-15C>T) c.626-15C>T (n.626-15C>T) c.104-15C>T (n.104-15C>T) c.668-15C>T (n.668-15C>T) c.-164-15C>T (n.-164-15C>T) | |
12 | g.51914427T>C | CA6572959 | ACVRL1 | c.356-12T>C (n.356-12T>C) c.626-12T>C (n.626-12T>C) c.104-12T>C (n.104-12T>C) c.668-12T>C (n.668-12T>C) c.-164-12T>C (n.-164-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914427T= | CA2036268910 | ACVRL1 | c.356-12T= (n.356-12T=) c.626-12T= (n.626-12T=) c.104-12T= (n.104-12T=) c.668-12T= (n.668-12T=) c.-164-12T= (n.-164-12T=) | |
12 | g.51914429T>C | CA2618856422 | ACVRL1 | c.356-10T>C (n.356-10T>C) c.626-10T>C (n.626-10T>C) c.104-10T>C (n.104-10T>C) c.668-10T>C (n.668-10T>C) c.-164-10T>C (n.-164-10T>C) | gnomAD v4 |
12 | g.51914430G>A | CA916081667 | ACVRL1 | c.356-9G>A (n.356-9G>A) c.626-9G>A (n.626-9G>A) c.104-9G>A (n.104-9G>A) c.668-9G>A (n.668-9G>A) c.-164-9G>A (n.-164-9G>A) | ClinVar dbSNP |
12 | g.51914430G= | CA2036268914 | ACVRL1 | c.356-9G= (n.356-9G=) c.626-9G= (n.626-9G=) c.104-9G= (n.104-9G=) c.668-9G= (n.668-9G=) c.-164-9G= (n.-164-9G=) | |
12 | g.51914430_51914442del | CA2695216725 | ACVRL1 | c.356-9_359del c.626-9_629del c.104-9_107del c.668-9_671del c.-164-9_-161del | |
12 | g.51914434_51914447del | CA2695216726 | ACVRL1 | c.356-5_364del c.626-5_634del c.104-5_112del c.668-5_676del c.-164-5_-156del | |
12 | g.51914432C>A | CA2618856428 | ACVRL1 | c.356-7C>A (n.356-7C>A) c.626-7C>A (n.626-7C>A) c.104-7C>A (n.104-7C>A) c.668-7C>A (n.668-7C>A) c.-164-7C>A (n.-164-7C>A) | gnomAD v4 |
12 | g.51914436C= | CA2036268918 | ACVRL1 | c.356-3C= (n.356-3C=) c.626-3C= (n.626-3C=) c.104-3C= (n.104-3C=) c.668-3C= (n.668-3C=) c.-164-3C= (n.-164-3C=) | |
12 | g.51914436C>G | CA645509324 | ACVRL1 | c.356-3C>G (n.356-3C>G) c.626-3C>G (n.626-3C>G) c.104-3C>G (n.104-3C>G) c.668-3C>G (n.668-3C>G) c.-164-3C>G (n.-164-3C>G) | ClinVar dbSNP |
12 | g.51914437A= | CA2036268920 | ACVRL1 | c.356-2A= (n.356-2A=) c.626-2A= (n.626-2A=) c.104-2A= (n.104-2A=) c.668-2A= (n.668-2A=) c.-164-2A= (n.-164-2A=) | |
12 | g.51914437A>C | CA384899938 | ACVRL1 | c.356-2A>C (n.356-2A>C) c.626-2A>C (n.626-2A>C) c.104-2A>C (n.104-2A>C) c.668-2A>C (n.668-2A>C) c.-164-2A>C (n.-164-2A>C) | |
12 | g.51914437A>G | CA384899939 | ACVRL1 | c.356-2A>G (n.356-2A>G) c.626-2A>G (n.626-2A>G) c.104-2A>G (n.104-2A>G) c.668-2A>G (n.668-2A>G) c.-164-2A>G (n.-164-2A>G) | ClinVar dbSNP |
12 | g.51914437A>T | CA384899940 | ACVRL1 | c.356-2A>T (n.356-2A>T) c.626-2A>T (n.626-2A>T) c.104-2A>T (n.104-2A>T) c.668-2A>T (n.668-2A>T) c.-164-2A>T (n.-164-2A>T) | |
12 | g.51914438G>A | CA384899941 | ACVRL1 | c.356-1G>A (n.356-1G>A) c.626-1G>A (n.626-1G>A) c.104-1G>A (n.104-1G>A) c.668-1G>A (n.668-1G>A) c.-164-1G>A (n.-164-1G>A) | ClinVar dbSNP |
12 | g.51914438G>C | CA384899942 | ACVRL1 | c.356-1G>C (n.356-1G>C) c.626-1G>C (n.626-1G>C) c.104-1G>C (n.104-1G>C) c.668-1G>C (n.668-1G>C) c.-164-1G>C (n.-164-1G>C) | |
12 | g.51914438G>T | CA384899943 | ACVRL1 | c.356-1G>T (n.356-1G>T) c.626-1G>T (n.626-1G>T) c.104-1G>T (n.104-1G>T) c.668-1G>T (n.668-1G>T) c.-164-1G>T (n.-164-1G>T) | |
12 | g.51914439G>A | CA384899946 | ACVRL1 | c.356G>A (p.Gly119Glu) c.626G>A (p.Gly209Glu) c.104G>A (p.Gly35Glu) c.668G>A (p.Gly223Glu) c.-164G>A (n.-164G>A) | gnomAD v4 |
12 | g.51914439G>C | CA384899944 | ACVRL1 | c.356G>C (p.Gly119Ala) c.626G>C (p.Gly209Ala) c.104G>C (p.Gly35Ala) c.668G>C (p.Gly223Ala) c.-164G>C (n.-164G>C) | |
12 | g.51914439G>T | CA384899945 | ACVRL1 | c.356G>T (p.Gly119Val) c.626G>T (p.Gly209Val) c.104G>T (p.Gly35Val) c.668G>T (p.Gly223Val) c.-164G>T (n.-164G>T) | |
12 | g.51914440A>C | CA479807002 | ACVRL1 | c.357A>C (p.Gly119=) c.627A>C (p.Gly209=) c.105A>C (p.Gly35=) c.669A>C (p.Gly223=) c.-163A>C (n.-163A>C) | |
12 | g.51914440A>G | CA479807006 | ACVRL1 | c.357A>G (p.Gly119=) c.627A>G (p.Gly209=) c.105A>G (p.Gly35=) c.669A>G (p.Gly223=) c.-163A>G (n.-163A>G) | |
12 | g.51914440A>T | CA479807008 | ACVRL1 | c.357A>T (p.Gly119=) c.627A>T (p.Gly209=) c.105A>T (p.Gly35=) c.669A>T (p.Gly223=) c.-163A>T (n.-163A>T) | |
12 | g.51914443dup | CA2842605681 | ACVRL1 | c.360dup (p.Gly121ArgfsTer14) c.630dup (p.Gly211ArgfsTer14) c.108dup (p.Gly37ArgfsTer14) c.672dup (p.Gly225ArgfsTer14) c.-160dup (n.-160dup) | |
12 | g.51914441A>C | CA384899947 | ACVRL1 | c.358A>C (p.Lys120Gln) c.628A>C (p.Lys210Gln) c.106A>C (p.Lys36Gln) c.670A>C (p.Lys224Gln) c.-162A>C (n.-162A>C) | |
12 | g.51914441A>G | CA384899948 | ACVRL1 | c.358A>G (p.Lys120Glu) c.628A>G (p.Lys210Glu) c.106A>G (p.Lys36Glu) c.670A>G (p.Lys224Glu) c.-162A>G (n.-162A>G) | |
12 | g.51914441A>T | CA384899949 | ACVRL1 | c.358A>T (p.Lys120Ter) c.628A>T (p.Lys210Ter) c.106A>T (p.Lys36Ter) c.670A>T (p.Lys224Ter) c.-162A>T (n.-162A>T) | |
12 | g.51914442A>C | CA384899950 | ACVRL1 | c.359A>C (p.Lys120Thr) c.629A>C (p.Lys210Thr) c.107A>C (p.Lys36Thr) c.671A>C (p.Lys224Thr) c.-161A>C (n.-161A>C) | |
12 | g.51914442A>G | CA384899951 | ACVRL1 | c.359A>G (p.Lys120Arg) c.629A>G (p.Lys210Arg) c.107A>G (p.Lys36Arg) c.671A>G (p.Lys224Arg) c.-161A>G (n.-161A>G) | |
12 | g.51914442A>T | CA384899952 | ACVRL1 | c.359A>T (p.Lys120Ile) c.629A>T (p.Lys210Ile) c.107A>T (p.Lys36Ile) c.671A>T (p.Lys224Ile) c.-161A>T (n.-161A>T) | |
12 | g.51914443A>C | CA384899953 | ACVRL1 | c.360A>C (p.Lys120Asn) c.630A>C (p.Lys210Asn) c.108A>C (p.Lys36Asn) c.672A>C (p.Lys224Asn) c.-160A>C (n.-160A>C) | |
12 | g.51914443A>G | CA479807034 | ACVRL1 | c.360A>G (p.Lys120=) c.630A>G (p.Lys210=) c.108A>G (p.Lys36=) c.672A>G (p.Lys224=) c.-160A>G (n.-160A>G) | |
12 | g.51914443A>T | CA384899954 | ACVRL1 | c.360A>T (p.Lys120Asn) c.630A>T (p.Lys210Asn) c.108A>T (p.Lys36Asn) c.672A>T (p.Lys224Asn) c.-160A>T (n.-160A>T) | |
12 | g.51914444G>A | CA384899955 | ACVRL1 | c.361G>A (p.Gly121Ser) c.631G>A (p.Gly211Ser) c.109G>A (p.Gly37Ser) c.673G>A (p.Gly225Ser) c.-159G>A (n.-159G>A) | ClinVar |
12 | g.51914444G>C | CA384899956 | ACVRL1 | c.361G>C (p.Gly121Arg) c.631G>C (p.Gly211Arg) c.109G>C (p.Gly37Arg) c.673G>C (p.Gly225Arg) c.-159G>C (n.-159G>C) | |
12 | g.51914444G= | CA2036268924 | ACVRL1 | c.361G= (p.Gly121=) c.631G= (p.Gly211=) c.109G= (p.Gly37=) c.673G= (p.Gly225=) c.-159G= (n.-159G=) | |
12 | g.51914444G>T | CA384899957 | ACVRL1 | c.361G>T (p.Gly121Cys) c.631G>T (p.Gly211Cys) c.109G>T (p.Gly37Cys) c.673G>T (p.Gly225Cys) c.-159G>T (n.-159G>T) | ClinVar dbSNP |
12 | g.51914445G>A | CA119406 | ACVRL1 | c.362G>A (p.Gly121Asp) c.632G>A (p.Gly211Asp) c.110G>A (p.Gly37Asp) c.674G>A (p.Gly225Asp) c.-158G>A (n.-158G>A) | ClinVar dbSNP gnomAD v4 |
12 | g.51914445G>C | CA384899959 | ACVRL1 | c.362G>C (p.Gly121Ala) c.632G>C (p.Gly211Ala) c.110G>C (p.Gly37Ala) c.674G>C (p.Gly225Ala) c.-158G>C (n.-158G>C) | |
12 | g.51914445G= | CA2036268927 | ACVRL1 | c.362G= (p.Gly121=) c.632G= (p.Gly211=) c.110G= (p.Gly37=) c.674G= (p.Gly225=) c.-158G= (n.-158G=) | |
12 | g.51914445G>T | CA384899958 | ACVRL1 | c.362G>T (p.Gly121Val) c.632G>T (p.Gly211Val) c.110G>T (p.Gly37Val) c.674G>T (p.Gly225Val) c.-158G>T (n.-158G>T) | gnomAD v4 |
12 | g.51914446C>A | CA479807054 | ACVRL1 | c.363C>A (p.Gly121=) c.633C>A (p.Gly211=) c.111C>A (p.Gly37=) c.675C>A (p.Gly225=) c.-157C>A (n.-157C>A) | |
12 | g.51914446C= | CA2036268934 | ACVRL1 | c.363C= (p.Gly121=) c.633C= (p.Gly211=) c.111C= (p.Gly37=) c.675C= (p.Gly225=) c.-157C= (n.-157C=) | |
12 | g.51914446C>G | CA479807058 | ACVRL1 | c.363C>G (p.Gly121=) c.633C>G (p.Gly211=) c.111C>G (p.Gly37=) c.675C>G (p.Gly225=) c.-157C>G (n.-157C>G) | COSMIC |
12 | g.51914446C>T | CA479807060 | ACVRL1 | c.363C>T (p.Gly121=) c.633C>T (p.Gly211=) c.111C>T (p.Gly37=) c.675C>T (p.Gly225=) c.-157C>T (n.-157C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51914447C>A | CA384899960 | ACVRL1 | c.364C>A (p.Arg122Ser) c.634C>A (p.Arg212Ser) c.112C>A (p.Arg38Ser) c.676C>A (p.Arg226Ser) c.-156C>A (n.-156C>A) | |
12 | g.51914447C= | CA2036268938 | ACVRL1 | c.364C= (p.Arg122=) c.634C= (p.Arg212=) c.112C= (p.Arg38=) c.676C= (p.Arg226=) c.-156C= (n.-156C=) | |
12 | g.51914447C>G | CA384899961 | ACVRL1 | c.364C>G (p.Arg122Gly) c.634C>G (p.Arg212Gly) c.112C>G (p.Arg38Gly) c.676C>G (p.Arg226Gly) c.-156C>G (n.-156C>G) | |
12 | g.51914447C>T | CA384899962 | ACVRL1 | c.364C>T (p.Arg122Cys) c.634C>T (p.Arg212Cys) c.112C>T (p.Arg38Cys) c.676C>T (p.Arg226Cys) c.-156C>T (n.-156C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914448G>A | CA384899963 | ACVRL1 | c.365G>A (p.Arg122His) c.635G>A (p.Arg212His) c.113G>A (p.Arg38His) c.677G>A (p.Arg226His) c.-155G>A (n.-155G>A) | dbSNP gnomAD v4 |
12 | g.51914448G>C | CA384899964 | ACVRL1 | c.365G>C (p.Arg122Pro) c.635G>C (p.Arg212Pro) c.113G>C (p.Arg38Pro) c.677G>C (p.Arg226Pro) c.-155G>C (n.-155G>C) | |
12 | g.51914448G= | CA2036268942 | ACVRL1 | c.365G= (p.Arg122=) c.635G= (p.Arg212=) c.113G= (p.Arg38=) c.677G= (p.Arg226=) c.-155G= (n.-155G=) | |
12 | g.51914448G>T | CA384899965 | ACVRL1 | c.365G>T (p.Arg122Leu) c.635G>T (p.Arg212Leu) c.113G>T (p.Arg38Leu) c.677G>T (p.Arg226Leu) c.-155G>T (n.-155G>T) | |
12 | g.51914449C>A | CA479807079 | ACVRL1 | c.366C>A (p.Arg122=) c.636C>A (p.Arg212=) c.114C>A (p.Arg38=) c.678C>A (p.Arg226=) c.-154C>A (n.-154C>A) | |
12 | g.51914449C>G | CA479807083 | ACVRL1 | c.366C>G (p.Arg122=) c.636C>G (p.Arg212=) c.114C>G (p.Arg38=) c.678C>G (p.Arg226=) c.-154C>G (n.-154C>G) | |
12 | g.51914449C>T | CA479807090 | ACVRL1 | c.366C>T (p.Arg122=) c.636C>T (p.Arg212=) c.114C>T (p.Arg38=) c.678C>T (p.Arg226=) c.-154C>T (n.-154C>T) | COSMIC COSMIC |
12 | g.51914450T>A | CA384899968 | ACVRL1 | c.367T>A (p.Tyr123Asn) c.637T>A (p.Tyr213Asn) c.115T>A (p.Tyr39Asn) c.679T>A (p.Tyr227Asn) c.-153T>A (n.-153T>A) | |
12 | g.51914450T>C | CA384899966 | ACVRL1 | c.367T>C (p.Tyr123His) c.637T>C (p.Tyr213His) c.115T>C (p.Tyr39His) c.679T>C (p.Tyr227His) c.-153T>C (n.-153T>C) | gnomAD v4 |
12 | g.51914450T>G | CA384899967 | ACVRL1 | c.367T>G (p.Tyr123Asp) c.637T>G (p.Tyr213Asp) c.115T>G (p.Tyr39Asp) c.679T>G (p.Tyr227Asp) c.-153T>G (n.-153T>G) | |
12 | g.51914451A>C | CA384899969 | ACVRL1 | c.368A>C (p.Tyr123Ser) c.638A>C (p.Tyr213Ser) c.116A>C (p.Tyr39Ser) c.680A>C (p.Tyr227Ser) c.-152A>C (n.-152A>C) | |
12 | g.51914451A>G | CA384899970 | ACVRL1 | c.368A>G (p.Tyr123Cys) c.638A>G (p.Tyr213Cys) c.116A>G (p.Tyr39Cys) c.680A>G (p.Tyr227Cys) c.-152A>G (n.-152A>G) | |
12 | g.51914451A>T | CA384899971 | ACVRL1 | c.368A>T (p.Tyr123Phe) c.638A>T (p.Tyr213Phe) c.116A>T (p.Tyr39Phe) c.680A>T (p.Tyr227Phe) c.-152A>T (n.-152A>T) | |
12 | g.51914452T>A | CA384899972 | ACVRL1 | c.369T>A (p.Tyr123Ter) c.639T>A (p.Tyr213Ter) c.117T>A (p.Tyr39Ter) c.681T>A (p.Tyr227Ter) c.-151T>A (n.-151T>A) | ClinVar |
12 | g.51914452T>C | CA236363364 | ACVRL1 | c.369T>C (p.Tyr123=) c.639T>C (p.Tyr213=) c.117T>C (p.Tyr39=) c.681T>C (p.Tyr227=) c.-151T>C (n.-151T>C) | dbSNP gnomAD v4 |
12 | g.51914452T>G | CA384899973 | ACVRL1 | c.369T>G (p.Tyr123Ter) c.639T>G (p.Tyr213Ter) c.117T>G (p.Tyr39Ter) c.681T>G (p.Tyr227Ter) c.-151T>G (n.-151T>G) | ClinVar dbSNP |
12 | g.51914452T= | CA2036268946 | ACVRL1 | c.369T= (p.Tyr123=) c.639T= (p.Tyr213=) c.117T= (p.Tyr39=) c.681T= (p.Tyr227=) c.-151T= (n.-151T=) | |
12 | g.51914452_51914453delinsTG | CA2036268949 | ACVRL1 | c.369_370delinsTG (p.Tyr123=) c.639_640delinsTG (p.Tyr213=) c.117_118delinsTG (p.Tyr39=) c.681_682delinsTG (p.Tyr227=) c.-151_-150delinsTG (n.-151_-150delinsTG) | |
12 | g.51914453G>A | CA384899974 | ACVRL1 | c.370G>A (p.Gly124Ser) c.640G>A (p.Gly214Ser) c.118G>A (p.Gly40Ser) c.682G>A (p.Gly228Ser) c.-150G>A (n.-150G>A) | |
12 | g.51914453G>C | CA384899976 | ACVRL1 | c.370G>C (p.Gly124Arg) c.640G>C (p.Gly214Arg) c.118G>C (p.Gly40Arg) c.682G>C (p.Gly228Arg) c.-150G>C (n.-150G>C) | |
12 | g.51914453G>T | CA384899975 | ACVRL1 | c.370G>T (p.Gly124Cys) c.640G>T (p.Gly214Cys) c.118G>T (p.Gly40Cys) c.682G>T (p.Gly228Cys) c.-150G>T (n.-150G>T) | |
12 | g.51914454del | CA658656304 | ACVRL1 | c.371del (p.Gly124AlafsTer?) c.641del (p.Gly214AlafsTer?) c.119del (p.Gly40AlafsTer?) c.683del (p.Gly228AlafsTer?) c.-149del (n.-149del) | ClinVar dbSNP |
12 | g.51914454G>A | CA384899977 | ACVRL1 | c.371G>A (p.Gly124Asp) c.641G>A (p.Gly214Asp) c.119G>A (p.Gly40Asp) c.683G>A (p.Gly228Asp) c.-149G>A (n.-149G>A) | |
12 | g.51914454G>C | CA384899978 | ACVRL1 | c.371G>C (p.Gly124Ala) c.641G>C (p.Gly214Ala) c.119G>C (p.Gly40Ala) c.683G>C (p.Gly228Ala) c.-149G>C (n.-149G>C) | |
12 | g.51914454G>T | CA384899979 | ACVRL1 | c.371G>T (p.Gly124Val) c.641G>T (p.Gly214Val) c.119G>T (p.Gly40Val) c.683G>T (p.Gly228Val) c.-149G>T (n.-149G>T) | ClinVar gnomAD v4 |
12 | g.51914455C>A | CA479807119 | ACVRL1 | c.372C>A (p.Gly124=) c.642C>A (p.Gly214=) c.120C>A (p.Gly40=) c.684C>A (p.Gly228=) c.-148C>A (n.-148C>A) | |
12 | g.51914455C= | CA2036268958 | ACVRL1 | c.372C= (p.Gly124=) c.642C= (p.Gly214=) c.120C= (p.Gly40=) c.684C= (p.Gly228=) c.-148C= (n.-148C=) | |
12 | g.51914455C>G | CA479807121 | ACVRL1 | c.372C>G (p.Gly124=) c.642C>G (p.Gly214=) c.120C>G (p.Gly40=) c.684C>G (p.Gly228=) c.-148C>G (n.-148C>G) | |
12 | g.51914455C>T | CA6572960 | ACVRL1 | c.372C>T (p.Gly124=) c.642C>T (p.Gly214=) c.120C>T (p.Gly40=) c.684C>T (p.Gly228=) c.-148C>T (n.-148C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914456G>A | CA6572961 | ACVRL1 | c.373G>A (p.Glu125Lys) c.643G>A (p.Glu215Lys) c.121G>A (p.Glu41Lys) c.685G>A (p.Glu229Lys) c.-147G>A (n.-147G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914456G>C | CA384899980 | ACVRL1 | c.373G>C (p.Glu125Gln) c.643G>C (p.Glu215Gln) c.121G>C (p.Glu41Gln) c.685G>C (p.Glu229Gln) c.-147G>C (n.-147G>C) | |
12 | g.51914456G= | CA2036268963 | ACVRL1 | c.373G= (p.Glu125=) c.643G= (p.Glu215=) c.121G= (p.Glu41=) c.685G= (p.Glu229=) c.-147G= (n.-147G=) | |
12 | g.51914456G>T | CA384899981 | ACVRL1 | c.373G>T (p.Glu125Ter) c.643G>T (p.Glu215Ter) c.121G>T (p.Glu41Ter) c.685G>T (p.Glu229Ter) c.-147G>T (n.-147G>T) | ClinVar |
12 | g.51914457A>C | CA384899982 | ACVRL1 | c.374A>C (p.Glu125Ala) c.644A>C (p.Glu215Ala) c.122A>C (p.Glu41Ala) c.686A>C (p.Glu229Ala) c.-146A>C (n.-146A>C) | |
12 | g.51914457A>G | CA384899983 | ACVRL1 | c.374A>G (p.Glu125Gly) c.644A>G (p.Glu215Gly) c.122A>G (p.Glu41Gly) c.686A>G (p.Glu229Gly) c.-146A>G (n.-146A>G) | |
12 | g.51914457A>T | CA384899984 | ACVRL1 | c.374A>T (p.Glu125Val) c.644A>T (p.Glu215Val) c.122A>T (p.Glu41Val) c.686A>T (p.Glu229Val) c.-146A>T (n.-146A>T) | |
12 | g.51914458A>C | CA384899985 | ACVRL1 | c.375A>C (p.Glu125Asp) c.645A>C (p.Glu215Asp) c.123A>C (p.Glu41Asp) c.687A>C (p.Glu229Asp) c.-145A>C (n.-145A>C) | |
12 | g.51914458A>G | CA479807148 | ACVRL1 | c.375A>G (p.Glu125=) c.645A>G (p.Glu215=) c.123A>G (p.Glu41=) c.687A>G (p.Glu229=) c.-145A>G (n.-145A>G) | |
12 | g.51914458A>T | CA384899986 | ACVRL1 | c.375A>T (p.Glu125Asp) c.645A>T (p.Glu215Asp) c.123A>T (p.Glu41Asp) c.687A>T (p.Glu229Asp) c.-145A>T (n.-145A>T) | |
12 | g.51914459G>A | CA384899988 | ACVRL1 | c.376G>A (p.Val126Met) c.646G>A (p.Val216Met) c.124G>A (p.Val42Met) c.688G>A (p.Val230Met) c.-144G>A (n.-144G>A) | |
12 | g.51914459G>C | CA384899989 | ACVRL1 | c.376G>C (p.Val126Leu) c.646G>C (p.Val216Leu) c.124G>C (p.Val42Leu) c.688G>C (p.Val230Leu) c.-144G>C (n.-144G>C) | |
12 | g.51914459G>T | CA384899987 | ACVRL1 | c.376G>T (p.Val126Leu) c.646G>T (p.Val216Leu) c.124G>T (p.Val42Leu) c.688G>T (p.Val230Leu) c.-144G>T (n.-144G>T) | |
12 | g.51914459_51914470dup | CA2573148780 | ACVRL1 | c.376_387dup (p.Gly129_Leu130insValTrpArgGly) c.646_657dup (p.Gly219_Leu220insValTrpArgGly) c.124_135dup (p.Gly45_Leu46insValTrpArgGly) c.688_699dup (p.Gly233_Leu234insValTrpArgGly) c.-144_-133dup (n.-144_-133dup) | ClinVar dbSNP |
12 | g.51914460T>A | CA384899991 | ACVRL1 | c.377T>A (p.Val126Glu) c.647T>A (p.Val216Glu) c.125T>A (p.Val42Glu) c.689T>A (p.Val230Glu) c.-143T>A (n.-143T>A) | |
12 | g.51914460T>C | CA384899990 | ACVRL1 | c.377T>C (p.Val126Ala) c.647T>C (p.Val216Ala) c.125T>C (p.Val42Ala) c.689T>C (p.Val230Ala) c.-143T>C (n.-143T>C) | |
12 | g.51914460T>G | CA384899992 | ACVRL1 | c.377T>G (p.Val126Gly) c.647T>G (p.Val216Gly) c.125T>G (p.Val42Gly) c.689T>G (p.Val230Gly) c.-143T>G (n.-143T>G) | ClinVar dbSNP |
12 | g.51914460T= | CA2036268965 | ACVRL1 | c.377T= (p.Val126=) c.647T= (p.Val216=) c.125T= (p.Val42=) c.689T= (p.Val230=) c.-143T= (n.-143T=) | |
12 | g.51914461G>A | CA479807181 | ACVRL1 | c.378G>A (p.Val126=) c.648G>A (p.Val216=) c.126G>A (p.Val42=) c.690G>A (p.Val230=) c.-142G>A (n.-142G>A) | |
12 | g.51914461G>C | CA479807182 | ACVRL1 | c.378G>C (p.Val126=) c.648G>C (p.Val216=) c.126G>C (p.Val42=) c.690G>C (p.Val230=) c.-142G>C (n.-142G>C) | |
12 | g.51914461G>T | CA479807183 | ACVRL1 | c.378G>T (p.Val126=) c.648G>T (p.Val216=) c.126G>T (p.Val42=) c.690G>T (p.Val230=) c.-142G>T (n.-142G>T) | |
12 | g.51914462T>A | CA384899993 | ACVRL1 | c.379T>A (p.Trp127Arg) c.649T>A (p.Trp217Arg) c.127T>A (p.Trp43Arg) c.691T>A (p.Trp231Arg) c.-141T>A (n.-141T>A) | |
12 | g.51914462T>C | CA384899995 | ACVRL1 | c.379T>C (p.Trp127Arg) c.649T>C (p.Trp217Arg) c.127T>C (p.Trp43Arg) c.691T>C (p.Trp231Arg) c.-141T>C (n.-141T>C) | |
12 | g.51914462T>G | CA384899994 | ACVRL1 | c.379T>G (p.Trp127Gly) c.649T>G (p.Trp217Gly) c.127T>G (p.Trp43Gly) c.691T>G (p.Trp231Gly) c.-141T>G (n.-141T>G) | ClinVar |
12 | g.51914463G>A | CA384899996 | ACVRL1 | c.380G>A (p.Trp127Ter) c.650G>A (p.Trp217Ter) c.128G>A (p.Trp43Ter) c.692G>A (p.Trp231Ter) c.-140G>A (n.-140G>A) | |
12 | g.51914463G>C | CA384899997 | ACVRL1 | c.380G>C (p.Trp127Ser) c.650G>C (p.Trp217Ser) c.128G>C (p.Trp43Ser) c.692G>C (p.Trp231Ser) c.-140G>C (n.-140G>C) | |
12 | g.51914463G>T | CA384899998 | ACVRL1 | c.380G>T (p.Trp127Leu) c.650G>T (p.Trp217Leu) c.128G>T (p.Trp43Leu) c.692G>T (p.Trp231Leu) c.-140G>T (n.-140G>T) | |
12 | g.51914464del | CA2580086469 | ACVRL1 | c.381del (p.Trp127CysfsTer?) c.651del (p.Trp217CysfsTer?) c.129del (p.Trp43CysfsTer?) c.693del (p.Trp231CysfsTer?) c.-139del (n.-139del) | ClinVar |
12 | g.51914464G>A | CA384899999 | ACVRL1 | c.381G>A (p.Trp127Ter) c.651G>A (p.Trp217Ter) c.129G>A (p.Trp43Ter) c.693G>A (p.Trp231Ter) c.-139G>A (n.-139G>A) | ClinVar dbSNP |
12 | g.51914464G>C | CA384900000 | ACVRL1 | c.381G>C (p.Trp127Cys) c.651G>C (p.Trp217Cys) c.129G>C (p.Trp43Cys) c.693G>C (p.Trp231Cys) c.-139G>C (n.-139G>C) | |
12 | g.51914464G= | CA2036268972 | ACVRL1 | c.381G= (p.Trp127=) c.651G= (p.Trp217=) c.129G= (p.Trp43=) c.693G= (p.Trp231=) c.-139G= (n.-139G=) | |
12 | g.51914464G>T | CA384900001 | ACVRL1 | c.381G>T (p.Trp127Cys) c.651G>T (p.Trp217Cys) c.129G>T (p.Trp43Cys) c.693G>T (p.Trp231Cys) c.-139G>T (n.-139G>T) | |
12 | g.51914465C>A | CA479807202 | ACVRL1 | c.382C>A (p.Arg128=) c.652C>A (p.Arg218=) c.130C>A (p.Arg44=) c.694C>A (p.Arg232=) c.-138C>A (n.-138C>A) | |
12 | g.51914465C= | CA2036268977 | ACVRL1 | c.382C= (p.Arg128=) c.652C= (p.Arg218=) c.130C= (p.Arg44=) c.694C= (p.Arg232=) c.-138C= (n.-138C=) | |
12 | g.51914465C>G | CA384900002 | ACVRL1 | c.382C>G (p.Arg128Gly) c.652C>G (p.Arg218Gly) c.130C>G (p.Arg44Gly) c.694C>G (p.Arg232Gly) c.-138C>G (n.-138C>G) | |
12 | g.51914465C>T | CA6572962 | ACVRL1 | c.382C>T (p.Arg128Trp) c.652C>T (p.Arg218Trp) c.130C>T (p.Arg44Trp) c.694C>T (p.Arg232Trp) c.-138C>T (n.-138C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914466G>A | CA6572963 | ACVRL1 | c.383G>A (p.Arg128Gln) c.653G>A (p.Arg218Gln) c.131G>A (p.Arg44Gln) c.695G>A (p.Arg232Gln) c.-137G>A (n.-137G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914466G>C | CA16614158 | ACVRL1 | c.383G>C (p.Arg128Pro) c.653G>C (p.Arg218Pro) c.131G>C (p.Arg44Pro) c.695G>C (p.Arg232Pro) c.-137G>C (n.-137G>C) | ClinVar dbSNP |
12 | g.51914466G= | CA2036268988 | ACVRL1 | c.383G= (p.Arg128=) c.653G= (p.Arg218=) c.131G= (p.Arg44=) c.695G= (p.Arg232=) c.-137G= (n.-137G=) | |
12 | g.51914466G>T | CA384900003 | ACVRL1 | c.383G>T (p.Arg128Leu) c.653G>T (p.Arg218Leu) c.131G>T (p.Arg44Leu) c.695G>T (p.Arg232Leu) c.-137G>T (n.-137G>T) | |
12 | g.51914466_51914467delinsCC | CA645293884 | ACVRL1 | c.383_384delinsCC (p.Arg128Pro) c.653_654delinsCC (p.Arg218Pro) c.131_132delinsCC (p.Arg44Pro) c.695_696delinsCC (p.Arg232Pro) c.-137_-136delinsCC (n.-137_-136delinsCC) | ClinVar |
12 | g.51914469del | CA645594552 | ACVRL1 | c.386del (p.Gly129AlafsTer?) c.656del (p.Gly219AlafsTer?) c.134del (p.Gly45AlafsTer?) c.698del (p.Gly233AlafsTer?) c.-134del (n.-134del) | COSMIC COSMIC |
12 | g.51914467G>A | CA479807233 | ACVRL1 | c.384G>A (p.Arg128=) c.654G>A (p.Arg218=) c.132G>A (p.Arg44=) c.696G>A (p.Arg232=) c.-136G>A (n.-136G>A) | |
12 | g.51914467G>C | CA479807237 | ACVRL1 | c.384G>C (p.Arg128=) c.654G>C (p.Arg218=) c.132G>C (p.Arg44=) c.696G>C (p.Arg232=) c.-136G>C (n.-136G>C) | |
12 | g.51914467G>T | CA479807241 | ACVRL1 | c.384G>T (p.Arg128=) c.654G>T (p.Arg218=) c.132G>T (p.Arg44=) c.696G>T (p.Arg232=) c.-136G>T (n.-136G>T) | |
12 | g.51914468G>A | CA384900006 | ACVRL1 | c.385G>A (p.Gly129Ser) c.655G>A (p.Gly219Ser) c.133G>A (p.Gly45Ser) c.697G>A (p.Gly233Ser) c.-135G>A (n.-135G>A) | |
12 | g.51914468G>C | CA384900004 | ACVRL1 | c.385G>C (p.Gly129Arg) c.655G>C (p.Gly219Arg) c.133G>C (p.Gly45Arg) c.697G>C (p.Gly233Arg) c.-135G>C (n.-135G>C) | ClinVar dbSNP |
12 | g.51914468G= | CA2036268994 | ACVRL1 | c.385G= (p.Gly129=) c.655G= (p.Gly219=) c.133G= (p.Gly45=) c.697G= (p.Gly233=) c.-135G= (n.-135G=) | |
12 | g.51914468G>T | CA384900005 | ACVRL1 | c.385G>T (p.Gly129Cys) c.655G>T (p.Gly219Cys) c.133G>T (p.Gly45Cys) c.697G>T (p.Gly233Cys) c.-135G>T (n.-135G>T) | |
12 | g.51914469G>A | CA384900007 | ACVRL1 | c.386G>A (p.Gly129Asp) c.656G>A (p.Gly219Asp) c.134G>A (p.Gly45Asp) c.698G>A (p.Gly233Asp) c.-134G>A (n.-134G>A) | |
12 | g.51914469G>C | CA384900008 | ACVRL1 | c.386G>C (p.Gly129Ala) c.656G>C (p.Gly219Ala) c.134G>C (p.Gly45Ala) c.698G>C (p.Gly233Ala) c.-134G>C (n.-134G>C) | |
12 | g.51914469G>T | CA384900009 | ACVRL1 | c.386G>T (p.Gly129Val) c.656G>T (p.Gly219Val) c.134G>T (p.Gly45Val) c.698G>T (p.Gly233Val) c.-134G>T (n.-134G>T) | |
12 | g.51914470C>A | CA479807259 | ACVRL1 | c.387C>A (p.Gly129=) c.657C>A (p.Gly219=) c.135C>A (p.Gly45=) c.699C>A (p.Gly233=) c.-133C>A (n.-133C>A) | |
12 | g.51914470C= | CA2036268996 | ACVRL1 | c.387C= (p.Gly129=) c.657C= (p.Gly219=) c.135C= (p.Gly45=) c.699C= (p.Gly233=) c.-133C= (n.-133C=) | |
12 | g.51914470C>G | CA479807261 | ACVRL1 | c.387C>G (p.Gly129=) c.657C>G (p.Gly219=) c.135C>G (p.Gly45=) c.699C>G (p.Gly233=) c.-133C>G (n.-133C>G) | |
12 | g.51914470C>T | CA6572964 | ACVRL1 | c.387C>T (p.Gly129=) c.657C>T (p.Gly219=) c.135C>T (p.Gly45=) c.699C>T (p.Gly233=) c.-133C>T (n.-133C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914471T>A | CA384900010 | ACVRL1 | c.388T>A (p.Leu130Met) c.658T>A (p.Leu220Met) c.136T>A (p.Leu46Met) c.700T>A (p.Leu234Met) c.-132T>A (n.-132T>A) | |
12 | g.51914471T>C | CA479807274 | ACVRL1 | c.388T>C (p.Leu130=) c.658T>C (p.Leu220=) c.136T>C (p.Leu46=) c.700T>C (p.Leu234=) c.-132T>C (n.-132T>C) | |
12 | g.51914471T>G | CA384900011 | ACVRL1 | c.388T>G (p.Leu130Val) c.658T>G (p.Leu220Val) c.136T>G (p.Leu46Val) c.700T>G (p.Leu234Val) c.-132T>G (n.-132T>G) | |
12 | g.51914472T>A | CA384900012 | ACVRL1 | c.389T>A (p.Leu130Ter) c.659T>A (p.Leu220Ter) c.137T>A (p.Leu46Ter) c.701T>A (p.Leu234Ter) c.-131T>A (n.-131T>A) | |
12 | g.51914472T>C | CA384900013 | ACVRL1 | c.389T>C (p.Leu130Ser) c.659T>C (p.Leu220Ser) c.137T>C (p.Leu46Ser) c.701T>C (p.Leu234Ser) c.-131T>C (n.-131T>C) | |
12 | g.51914472T>G | CA384900014 | ACVRL1 | c.389T>G (p.Leu130Trp) c.659T>G (p.Leu220Trp) c.137T>G (p.Leu46Trp) c.701T>G (p.Leu234Trp) c.-131T>G (n.-131T>G) | |
12 | g.51914473G>A | CA479807289 | ACVRL1 | c.390G>A (p.Leu130=) c.660G>A (p.Leu220=) c.138G>A (p.Leu46=) c.702G>A (p.Leu234=) c.-130G>A (n.-130G>A) | |
12 | g.51914473G>C | CA6572965 | ACVRL1 | c.390G>C (p.Leu130Phe) c.660G>C (p.Leu220Phe) c.138G>C (p.Leu46Phe) c.702G>C (p.Leu234Phe) c.-130G>C (n.-130G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914473G= | CA2036268999 | ACVRL1 | c.390G= (p.Leu130=) c.660G= (p.Leu220=) c.138G= (p.Leu46=) c.702G= (p.Leu234=) c.-130G= (n.-130G=) | |
12 | g.51914473G>T | CA6572966 | ACVRL1 | c.390G>T (p.Leu130Phe) c.660G>T (p.Leu220Phe) c.138G>T (p.Leu46Phe) c.702G>T (p.Leu234Phe) c.-130G>T (n.-130G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914474T>A | CA384900016 | ACVRL1 | c.391T>A (p.Trp131Arg) c.661T>A (p.Trp221Arg) c.139T>A (p.Trp47Arg) c.703T>A (p.Trp235Arg) c.-129T>A (n.-129T>A) | |
12 | g.51914474T>C | CA384900017 | ACVRL1 | c.391T>C (p.Trp131Arg) c.661T>C (p.Trp221Arg) c.139T>C (p.Trp47Arg) c.703T>C (p.Trp235Arg) c.-129T>C (n.-129T>C) | |
12 | g.51914474T>G | CA384900015 | ACVRL1 | c.391T>G (p.Trp131Gly) c.661T>G (p.Trp221Gly) c.139T>G (p.Trp47Gly) c.703T>G (p.Trp235Gly) c.-129T>G (n.-129T>G) | |
12 | g.51914475G>A | CA384900018 | ACVRL1 | c.392G>A (p.Trp131Ter) c.662G>A (p.Trp221Ter) c.140G>A (p.Trp47Ter) c.704G>A (p.Trp235Ter) c.-128G>A (n.-128G>A) | |
12 | g.51914475G>C | CA384900019 | ACVRL1 | c.392G>C (p.Trp131Ser) c.662G>C (p.Trp221Ser) c.140G>C (p.Trp47Ser) c.704G>C (p.Trp235Ser) c.-128G>C (n.-128G>C) | |
12 | g.51914475G>T | CA384900020 | ACVRL1 | c.392G>T (p.Trp131Leu) c.662G>T (p.Trp221Leu) c.140G>T (p.Trp47Leu) c.704G>T (p.Trp235Leu) c.-128G>T (n.-128G>T) | |
12 | g.51914477_51914481del | CA2695216731 | ACVRL1 | c.394_398del (p.His132Ter) c.664_668del (p.His222Ter) c.142_146del (p.His48Ter) c.706_710del (p.His236Ter) c.-126_-122del (n.-126_-122del) | |
12 | g.51914476G>A | CA384900021 | ACVRL1 | c.393G>A (p.Trp131Ter) c.663G>A (p.Trp221Ter) c.141G>A (p.Trp47Ter) c.705G>A (p.Trp235Ter) c.-127G>A (n.-127G>A) | ClinVar dbSNP |
12 | g.51914476G>C | CA384900022 | ACVRL1 | c.393G>C (p.Trp131Cys) c.663G>C (p.Trp221Cys) c.141G>C (p.Trp47Cys) c.705G>C (p.Trp235Cys) c.-127G>C (n.-127G>C) | |
12 | g.51914476G>T | CA384900023 | ACVRL1 | c.393G>T (p.Trp131Cys) c.663G>T (p.Trp221Cys) c.141G>T (p.Trp47Cys) c.705G>T (p.Trp235Cys) c.-127G>T (n.-127G>T) | |
12 | g.51914476_51914477del | CA2695216733 | ACVRL1 | c.393_394del (p.Trp131Ter) c.663_664del (p.Trp221Ter) c.141_142del (p.Trp47Ter) c.705_706del (p.Trp235Ter) c.-127_-126del (n.-127_-126del) | |
12 | g.51914477C>A | CA384900024 | ACVRL1 | c.394C>A (p.His132Asn) c.664C>A (p.His222Asn) c.142C>A (p.His48Asn) c.706C>A (p.His236Asn) c.-126C>A (n.-126C>A) | |
12 | g.51914477C= | CA2036269004 | ACVRL1 | c.394C= (p.His132=) c.664C= (p.His222=) c.142C= (p.His48=) c.706C= (p.His236=) c.-126C= (n.-126C=) | |
12 | g.51914477C>G | CA384900025 | ACVRL1 | c.394C>G (p.His132Asp) c.664C>G (p.His222Asp) c.142C>G (p.His48Asp) c.706C>G (p.His236Asp) c.-126C>G (n.-126C>G) | |
12 | g.51914477C>T | CA6572967 | ACVRL1 | c.394C>T (p.His132Tyr) c.664C>T (p.His222Tyr) c.142C>T (p.His48Tyr) c.706C>T (p.His236Tyr) c.-126C>T (n.-126C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914478A>C | CA384900026 | ACVRL1 | c.395A>C (p.His132Pro) c.665A>C (p.His222Pro) c.143A>C (p.His48Pro) c.707A>C (p.His236Pro) c.-125A>C (n.-125A>C) | |
12 | g.51914478A>G | CA384900027 | ACVRL1 | c.395A>G (p.His132Arg) c.665A>G (p.His222Arg) c.143A>G (p.His48Arg) c.707A>G (p.His236Arg) c.-125A>G (n.-125A>G) | |
12 | g.51914478A>T | CA384900028 | ACVRL1 | c.395A>T (p.His132Leu) c.665A>T (p.His222Leu) c.143A>T (p.His48Leu) c.707A>T (p.His236Leu) c.-125A>T (n.-125A>T) | |
12 | g.51914479C>A | CA384900029 | ACVRL1 | c.396C>A (p.His132Gln) c.666C>A (p.His222Gln) c.144C>A (p.His48Gln) c.708C>A (p.His236Gln) c.-124C>A (n.-124C>A) | |
12 | g.51914479C= | CA2036269009 | ACVRL1 | c.396C= (p.His132=) c.666C= (p.His222=) c.144C= (p.His48=) c.708C= (p.His236=) c.-124C= (n.-124C=) | |
12 | g.51914479C>G | CA6572968 | ACVRL1 | c.396C>G (p.His132Gln) c.666C>G (p.His222Gln) c.144C>G (p.His48Gln) c.708C>G (p.His236Gln) c.-124C>G (n.-124C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914479C>T | CA6572969 | ACVRL1 | c.396C>T (p.His132=) c.666C>T (p.His222=) c.144C>T (p.His48=) c.708C>T (p.His236=) c.-124C>T (n.-124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914480G>A | CA384900030 | ACVRL1 | c.397G>A (p.Gly133Ser) c.667G>A (p.Gly223Ser) c.145G>A (p.Gly49Ser) c.709G>A (p.Gly237Ser) c.-123G>A (n.-123G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
12 | g.51914480G>C | CA384900031 | ACVRL1 | c.397G>C (p.Gly133Arg) c.667G>C (p.Gly223Arg) c.145G>C (p.Gly49Arg) c.709G>C (p.Gly237Arg) c.-123G>C (n.-123G>C) | ClinVar |
12 | g.51914480G= | CA2036269014 | ACVRL1 | c.397G= (p.Gly133=) c.667G= (p.Gly223=) c.145G= (p.Gly49=) c.709G= (p.Gly237=) c.-123G= (n.-123G=) | |
12 | g.51914480G>T | CA384900032 | ACVRL1 | c.397G>T (p.Gly133Cys) c.667G>T (p.Gly223Cys) c.145G>T (p.Gly49Cys) c.709G>T (p.Gly237Cys) c.-123G>T (n.-123G>T) | |
12 | g.51914481G>A | CA384900033 | ACVRL1 | c.398G>A (p.Gly133Asp) c.668G>A (p.Gly223Asp) c.146G>A (p.Gly49Asp) c.710G>A (p.Gly237Asp) c.-122G>A (n.-122G>A) | |
12 | g.51914481G>C | CA384900034 | ACVRL1 | c.398G>C (p.Gly133Ala) c.668G>C (p.Gly223Ala) c.146G>C (p.Gly49Ala) c.710G>C (p.Gly237Ala) c.-122G>C (n.-122G>C) | |
12 | g.51914481G>T | CA384900035 | ACVRL1 | c.398G>T (p.Gly133Val) c.668G>T (p.Gly223Val) c.146G>T (p.Gly49Val) c.710G>T (p.Gly237Val) c.-122G>T (n.-122G>T) | |
12 | g.51914482T>A | CA479807767 | ACVRL1 | c.399T>A (p.Gly133=) c.669T>A (p.Gly223=) c.147T>A (p.Gly49=) c.711T>A (p.Gly237=) c.-121T>A (n.-121T>A) | |
12 | g.51914482T>C | CA479807769 | ACVRL1 | c.399T>C (p.Gly133=) c.669T>C (p.Gly223=) c.147T>C (p.Gly49=) c.711T>C (p.Gly237=) c.-121T>C (n.-121T>C) | |
12 | g.51914482T>G | CA479807774 | ACVRL1 | c.399T>G (p.Gly133=) c.669T>G (p.Gly223=) c.147T>G (p.Gly49=) c.711T>G (p.Gly237=) c.-121T>G (n.-121T>G) | dbSNP gnomAD v2 |
12 | g.51914482T= | CA2036269018 | ACVRL1 | c.399T= (p.Gly133=) c.669T= (p.Gly223=) c.147T= (p.Gly49=) c.711T= (p.Gly237=) c.-121T= (n.-121T=) | |
12 | g.51914482_51914484delinsTGA | CA2036269019 | ACVRL1 | c.399_401delinsTGA (p.Gly133=) c.669_671delinsTGA (p.Gly223=) c.147_149delinsTGA (p.Gly49=) c.711_713delinsTGA (p.Gly237=) c.-121_-119delinsTGA (n.-121_-119delinsTGA) | |
12 | g.51914483G>A | CA384900038 | ACVRL1 | c.400G>A (p.Glu134Lys) c.670G>A (p.Glu224Lys) c.148G>A (p.Glu50Lys) c.712G>A (p.Glu238Lys) c.-120G>A (n.-120G>A) | ClinVar |
12 | g.51914483G>C | CA384900036 | ACVRL1 | c.400G>C (p.Glu134Gln) c.670G>C (p.Glu224Gln) c.148G>C (p.Glu50Gln) c.712G>C (p.Glu238Gln) c.-120G>C (n.-120G>C) | |
12 | g.51914483G>T | CA384900037 | ACVRL1 | c.400G>T (p.Glu134Ter) c.670G>T (p.Glu224Ter) c.148G>T (p.Glu50Ter) c.712G>T (p.Glu238Ter) c.-120G>T (n.-120G>T) | ClinVar |
12 | g.51914486_51914487del | CA2036269021 | ACVRL1 | c.403_404del (p.Ser135CysfsTer11) c.673_674del (p.Ser225CysfsTer11) c.151_152del (p.Ser51CysfsTer11) c.715_716del (p.Ser239CysfsTer11) c.-117_-116del (n.-117_-116del) | ClinVar dbSNP |
12 | g.51914484A>C | CA384900039 | ACVRL1 | c.401A>C (p.Glu134Ala) c.671A>C (p.Glu224Ala) c.149A>C (p.Glu50Ala) c.713A>C (p.Glu238Ala) c.-119A>C (n.-119A>C) | |
12 | g.51914484A>G | CA384900040 | ACVRL1 | c.401A>G (p.Glu134Gly) c.671A>G (p.Glu224Gly) c.149A>G (p.Glu50Gly) c.713A>G (p.Glu238Gly) c.-119A>G (n.-119A>G) | |
12 | g.51914484A>T | CA384900041 | ACVRL1 | c.401A>T (p.Glu134Val) c.671A>T (p.Glu224Val) c.149A>T (p.Glu50Val) c.713A>T (p.Glu238Val) c.-119A>T (n.-119A>T) | |
12 | g.51914485G>A | CA479807788 | ACVRL1 | c.402G>A (p.Glu134=) c.672G>A (p.Glu224=) c.150G>A (p.Glu50=) c.714G>A (p.Glu238=) c.-118G>A (n.-118G>A) | |
12 | g.51914485G>C | CA384900042 | ACVRL1 | c.402G>C (p.Glu134Asp) c.672G>C (p.Glu224Asp) c.150G>C (p.Glu50Asp) c.714G>C (p.Glu238Asp) c.-118G>C (n.-118G>C) | dbSNP gnomAD v4 |
12 | g.51914485G= | CA2036269023 | ACVRL1 | c.402G= (p.Glu134=) c.672G= (p.Glu224=) c.150G= (p.Glu50=) c.714G= (p.Glu238=) c.-118G= (n.-118G=) | |
12 | g.51914485G>T | CA384900043 | ACVRL1 | c.402G>T (p.Glu134Asp) c.672G>T (p.Glu224Asp) c.150G>T (p.Glu50Asp) c.714G>T (p.Glu238Asp) c.-118G>T (n.-118G>T) | |
12 | g.51914486del | CA2580086470 | ACVRL1 | c.403del (p.Ser135ValfsTer?) c.673del (p.Ser225ValfsTer?) c.151del (p.Ser51ValfsTer?) c.715del (p.Ser239ValfsTer?) c.-117del (n.-117del) | ClinVar |
12 | g.51914486A>C | CA384900046 | ACVRL1 | c.403A>C (p.Ser135Arg) c.673A>C (p.Ser225Arg) c.151A>C (p.Ser51Arg) c.715A>C (p.Ser239Arg) c.-117A>C (n.-117A>C) | |
12 | g.51914486A>G | CA384900045 | ACVRL1 | c.403A>G (p.Ser135Gly) c.673A>G (p.Ser225Gly) c.151A>G (p.Ser51Gly) c.715A>G (p.Ser239Gly) c.-117A>G (n.-117A>G) | |
12 | g.51914486A>T | CA384900044 | ACVRL1 | c.403A>T (p.Ser135Cys) c.673A>T (p.Ser225Cys) c.151A>T (p.Ser51Cys) c.715A>T (p.Ser239Cys) c.-117A>T (n.-117A>T) | |
12 | g.51914487G>A | CA6572970 | ACVRL1 | c.404G>A (p.Ser135Asn) c.674G>A (p.Ser225Asn) c.152G>A (p.Ser51Asn) c.716G>A (p.Ser239Asn) c.-116G>A (n.-116G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51914487G>C | CA384900048 | ACVRL1 | c.404G>C (p.Ser135Thr) c.674G>C (p.Ser225Thr) c.152G>C (p.Ser51Thr) c.716G>C (p.Ser239Thr) c.-116G>C (n.-116G>C) | |
12 | g.51914487G= | CA2036269025 | ACVRL1 | c.404G= (p.Ser135=) c.674G= (p.Ser225=) c.152G= (p.Ser51=) c.716G= (p.Ser239=) c.-116G= (n.-116G=) | |
12 | g.51914487G>T | CA384900047 | ACVRL1 | c.404G>T (p.Ser135Ile) c.674G>T (p.Ser225Ile) c.152G>T (p.Ser51Ile) c.716G>T (p.Ser239Ile) c.-116G>T (n.-116G>T) | dbSNP gnomAD v4 |
12 | g.51914488T>A | CA384900049 | ACVRL1 | c.405T>A (p.Ser135Arg) c.675T>A (p.Ser225Arg) c.153T>A (p.Ser51Arg) c.717T>A (p.Ser239Arg) c.-115T>A (n.-115T>A) | |
12 | g.51914488T>C | CA479807811 | ACVRL1 | c.405T>C (p.Ser135=) c.675T>C (p.Ser225=) c.153T>C (p.Ser51=) c.717T>C (p.Ser239=) c.-115T>C (n.-115T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51914488T>G | CA384900050 | ACVRL1 | c.405T>G (p.Ser135Arg) c.675T>G (p.Ser225Arg) c.153T>G (p.Ser51Arg) c.717T>G (p.Ser239Arg) c.-115T>G (n.-115T>G) | |
12 | g.51914488T= | CA2036269027 | ACVRL1 | c.405T= (p.Ser135=) c.675T= (p.Ser225=) c.153T= (p.Ser51=) c.717T= (p.Ser239=) c.-115T= (n.-115T=) |