Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51915984_51916014delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAGCA2036236647ACVRL1c.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG (n.779-52_779-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG)
c.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG (n.1049-52_1049-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG)
c.527-52_527-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG (n.527-52_527-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG)
n.272_302delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG
c.1091-52_1091-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG (n.1091-52_1091-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG)
c.54-52_54-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG
c.260-52_260-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG (n.260-52_260-22delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG)
12g.51915987_51916016delCA2036236650ACVRL1c.779-49_779-20del (n.779-49_779-20del)
c.1049-49_1049-20del (n.1049-49_1049-20del)
c.527-49_527-20del (n.527-49_527-20del)
n.275_304del
c.1091-49_1091-20del (n.1091-49_1091-20del)
c.54-49_54-20del
c.260-49_260-20del (n.260-49_260-20del)
 dbSNP
12g.51915994G>ACA689766763ACVRL1c.779-42G>A (n.779-42G>A)
c.1049-42G>A (n.1049-42G>A)
c.527-42G>A (n.527-42G>A)
n.282G>A
c.1091-42G>A (n.1091-42G>A)
c.54-42G>A
c.260-42G>A (n.260-42G>A)
 dbSNP gnomAD v3 gnomAD v4
12g.51915994G=CA2036236657ACVRL1c.779-42G= (n.779-42G=)
c.1049-42G= (n.1049-42G=)
c.527-42G= (n.527-42G=)
n.282G=
c.1091-42G= (n.1091-42G=)
c.54-42G=
c.260-42G= (n.260-42G=)
12g.51915994G>TCA605052087ACVRL1c.779-42G>T (n.779-42G>T)
c.1049-42G>T (n.1049-42G>T)
c.527-42G>T (n.527-42G>T)
n.282G>T
c.1091-42G>T (n.1091-42G>T)
c.54-42G>T
c.260-42G>T (n.260-42G>T)
 dbSNP gnomAD v2 gnomAD v4
12g.51915994_51916016delCA2795983138ACVRL1c.779-42_779-20del (n.779-42_779-20del)
c.1049-42_1049-20del (n.1049-42_1049-20del)
c.527-42_527-20del (n.527-42_527-20del)
n.282_304del
c.1091-42_1091-20del (n.1091-42_1091-20del)
c.54-42_54-20del
c.260-42_260-20del (n.260-42_260-20del)
12g.51915995G>ACA2795983139ACVRL1c.779-41G>A (n.779-41G>A)
c.1049-41G>A (n.1049-41G>A)
c.527-41G>A (n.527-41G>A)
n.283G>A
c.1091-41G>A (n.1091-41G>A)
c.54-41G>A
c.260-41G>A (n.260-41G>A)
12g.51915995G>TCA2618859492ACVRL1c.779-41G>T (n.779-41G>T)
c.1049-41G>T (n.1049-41G>T)
c.527-41G>T (n.527-41G>T)
n.283G>T
c.1091-41G>T (n.1091-41G>T)
c.54-41G>T
c.260-41G>T (n.260-41G>T)
 gnomAD v4
12g.51915998delCA2515749428ACVRL1c.779-38del (n.779-38del)
c.1049-38del (n.1049-38del)
c.527-38del (n.527-38del)
n.286del
c.1091-38del (n.1091-38del)
c.54-38del
c.260-38del (n.260-38del)
12g.51915997T>ACA605052088ACVRL1c.779-39T>A (n.779-39T>A)
c.1049-39T>A (n.1049-39T>A)
c.527-39T>A (n.527-39T>A)
n.285T>A
c.1091-39T>A (n.1091-39T>A)
c.54-39T>A
c.260-39T>A (n.260-39T>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51915997T>CCA2618859494ACVRL1c.779-39T>C (n.779-39T>C)
c.1049-39T>C (n.1049-39T>C)
c.527-39T>C (n.527-39T>C)
n.285T>C
c.1091-39T>C (n.1091-39T>C)
c.54-39T>C
c.260-39T>C (n.260-39T>C)
 gnomAD v4
12g.51915997T=CA2036236659ACVRL1c.779-39T= (n.779-39T=)
c.1049-39T= (n.1049-39T=)
c.527-39T= (n.527-39T=)
n.285T=
c.1091-39T= (n.1091-39T=)
c.54-39T=
c.260-39T= (n.260-39T=)
12g.51915999G>TCA2575161512ACVRL1c.779-37G>T (n.779-37G>T)
c.1049-37G>T (n.1049-37G>T)
c.527-37G>T (n.527-37G>T)
n.287G>T
c.1091-37G>T (n.1091-37G>T)
c.54-37G>T
c.260-37G>T (n.260-37G>T)
 gnomAD v4
12g.51916000G>ACA6573051ACVRL1c.779-36G>A (n.779-36G>A)
c.1049-36G>A (n.1049-36G>A)
c.527-36G>A (n.527-36G>A)
n.288G>A
c.1091-36G>A (n.1091-36G>A)
c.54-36G>A
c.260-36G>A (n.260-36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916000G=CA2036236661ACVRL1c.779-36G= (n.779-36G=)
c.1049-36G= (n.1049-36G=)
c.527-36G= (n.527-36G=)
n.288G=
c.1091-36G= (n.1091-36G=)
c.54-36G=
c.260-36G= (n.260-36G=)
12g.51916001G>ACA2036236665ACVRL1c.779-35G>A (n.779-35G>A)
c.1049-35G>A (n.1049-35G>A)
c.527-35G>A (n.527-35G>A)
n.289G>A
c.1091-35G>A (n.1091-35G>A)
c.54-35G>A
c.260-35G>A (n.260-35G>A)
 dbSNP
12g.51916001G=CA2036236664ACVRL1c.779-35G= (n.779-35G=)
c.1049-35G= (n.1049-35G=)
c.527-35G= (n.527-35G=)
n.289G=
c.1091-35G= (n.1091-35G=)
c.54-35G=
c.260-35G= (n.260-35G=)
12g.51916001G>TCA2618859496ACVRL1c.779-35G>T (n.779-35G>T)
c.1049-35G>T (n.1049-35G>T)
c.527-35G>T (n.527-35G>T)
n.289G>T
c.1091-35G>T (n.1091-35G>T)
c.54-35G>T
c.260-35G>T (n.260-35G>T)
 gnomAD v4
12g.51916001_51916002delinsGACA2036236663ACVRL1c.779-35_779-34delinsGA (n.779-35_779-34delinsGA)
c.1049-35_1049-34delinsGA (n.1049-35_1049-34delinsGA)
c.527-35_527-34delinsGA (n.527-35_527-34delinsGA)
n.289_290delinsGA
c.1091-35_1091-34delinsGA (n.1091-35_1091-34delinsGA)
c.54-35_54-34delinsGA
c.260-35_260-34delinsGA (n.260-35_260-34delinsGA)
12g.51916002delCA605052098ACVRL1c.779-34del (n.779-34del)
c.1049-34del (n.1049-34del)
c.527-34del (n.527-34del)
n.290del
c.1091-34del (n.1091-34del)
c.54-34del
c.260-34del (n.260-34del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916002A=CA2036236668ACVRL1c.779-34A= (n.779-34A=)
c.1049-34A= (n.1049-34A=)
c.527-34A= (n.527-34A=)
n.290A=
c.1091-34A= (n.1091-34A=)
c.54-34A=
c.260-34A= (n.260-34A=)
12g.51916002A>TCA6573052ACVRL1c.779-34A>T (n.779-34A>T)
c.1049-34A>T (n.1049-34A>T)
c.527-34A>T (n.527-34A>T)
n.290A>T
c.1091-34A>T (n.1091-34A>T)
c.54-34A>T
c.260-34A>T (n.260-34A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916003G>ACA2618859498ACVRL1c.779-33G>A (n.779-33G>A)
c.1049-33G>A (n.1049-33G>A)
c.527-33G>A (n.527-33G>A)
n.291G>A
c.1091-33G>A (n.1091-33G>A)
c.54-33G>A
c.260-33G>A (n.260-33G>A)
 gnomAD v4
12g.51916003G>TCA2618859499ACVRL1c.779-33G>T (n.779-33G>T)
c.1049-33G>T (n.1049-33G>T)
c.527-33G>T (n.527-33G>T)
n.291G>T
c.1091-33G>T (n.1091-33G>T)
c.54-33G>T
c.260-33G>T (n.260-33G>T)
 gnomAD v4
12g.51916004A=CA2036236671ACVRL1c.779-32A= (n.779-32A=)
c.1049-32A= (n.1049-32A=)
c.527-32A= (n.527-32A=)
n.292A=
c.1091-32A= (n.1091-32A=)
c.54-32A=
c.260-32A= (n.260-32A=)
12g.51916004A>GCA2036236672ACVRL1c.779-32A>G (n.779-32A>G)
c.1049-32A>G (n.1049-32A>G)
c.527-32A>G (n.527-32A>G)
n.292A>G
c.1091-32A>G (n.1091-32A>G)
c.54-32A>G
c.260-32A>G (n.260-32A>G)
 dbSNP gnomAD v4
12g.51916005G>ACA6573053ACVRL1c.779-31G>A (n.779-31G>A)
c.1049-31G>A (n.1049-31G>A)
c.527-31G>A (n.527-31G>A)
n.293G>A
c.1091-31G>A (n.1091-31G>A)
c.54-31G>A
c.260-31G>A (n.260-31G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916005G=CA2036236674ACVRL1c.779-31G= (n.779-31G=)
c.1049-31G= (n.1049-31G=)
c.527-31G= (n.527-31G=)
n.293G=
c.1091-31G= (n.1091-31G=)
c.54-31G=
c.260-31G= (n.260-31G=)
12g.51916006G>ACA2618859500ACVRL1c.779-30G>A (n.779-30G>A)
c.1049-30G>A (n.1049-30G>A)
c.527-30G>A (n.527-30G>A)
n.294G>A
c.1091-30G>A (n.1091-30G>A)
c.54-30G>A
c.260-30G>A (n.260-30G>A)
 gnomAD v4
12g.51916006G>TCA2618859501ACVRL1c.779-30G>T (n.779-30G>T)
c.1049-30G>T (n.1049-30G>T)
c.527-30G>T (n.527-30G>T)
n.294G>T
c.1091-30G>T (n.1091-30G>T)
c.54-30G>T
c.260-30G>T (n.260-30G>T)
 gnomAD v4
12g.51916007G>ACA2618859503ACVRL1c.779-29G>A (n.779-29G>A)
c.1049-29G>A (n.1049-29G>A)
c.527-29G>A (n.527-29G>A)
n.295G>A
c.1091-29G>A (n.1091-29G>A)
c.54-29G>A
c.260-29G>A (n.260-29G>A)
 gnomAD v4
12g.51916008G>ACA2618859504ACVRL1c.779-28G>A (n.779-28G>A)
c.1049-28G>A (n.1049-28G>A)
c.527-28G>A (n.527-28G>A)
n.296G>A
c.1091-28G>A (n.1091-28G>A)
c.54-28G>A
c.260-28G>A (n.260-28G>A)
 gnomAD v4
12g.51916009C>ACA2618859505ACVRL1c.779-27C>A (n.779-27C>A)
c.1049-27C>A (n.1049-27C>A)
c.527-27C>A (n.527-27C>A)
n.297C>A
c.1091-27C>A (n.1091-27C>A)
c.54-27C>A
c.260-27C>A (n.260-27C>A)
 gnomAD v4
12g.51916010A=CA2036236676ACVRL1c.779-26A= (n.779-26A=)
c.1049-26A= (n.1049-26A=)
c.527-26A= (n.527-26A=)
n.298A=
c.1091-26A= (n.1091-26A=)
c.54-26A=
c.260-26A= (n.260-26A=)
12g.51916010A>GCA6573054ACVRL1c.779-26A>G (n.779-26A>G)
c.1049-26A>G (n.1049-26A>G)
c.527-26A>G (n.527-26A>G)
n.298A>G
c.1091-26A>G (n.1091-26A>G)
c.54-26A>G
c.260-26A>G (n.260-26A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916011G>ACA2618859507ACVRL1c.779-25G>A (n.779-25G>A)
c.1049-25G>A (n.1049-25G>A)
c.527-25G>A (n.527-25G>A)
n.299G>A
c.1091-25G>A (n.1091-25G>A)
c.54-25G>A
c.260-25G>A (n.260-25G>A)
 gnomAD v4
12g.51916012G>CCA2618859508ACVRL1c.779-24G>C (n.779-24G>C)
c.1049-24G>C (n.1049-24G>C)
c.527-24G>C (n.527-24G>C)
n.300G>C
c.1091-24G>C (n.1091-24G>C)
c.54-24G>C
c.260-24G>C (n.260-24G>C)
 gnomAD v4
12g.51916014G>ACA2618859509ACVRL1c.779-22G>A (n.779-22G>A)
c.1049-22G>A (n.1049-22G>A)
c.527-22G>A (n.527-22G>A)
n.302G>A
c.1091-22G>A (n.1091-22G>A)
c.54-22G>A
c.260-22G>A (n.260-22G>A)
 gnomAD v4
12g.51916014G>TCA2618859510ACVRL1c.779-22G>T (n.779-22G>T)
c.1049-22G>T (n.1049-22G>T)
c.527-22G>T (n.527-22G>T)
n.302G>T
c.1091-22G>T (n.1091-22G>T)
c.54-22G>T
c.260-22G>T (n.260-22G>T)
 gnomAD v4
12g.51916015T>ACA2726343311ACVRL1c.779-21T>A (n.779-21T>A)
c.1049-21T>A (n.1049-21T>A)
c.527-21T>A (n.527-21T>A)
n.303T>A
c.1091-21T>A (n.1091-21T>A)
c.54-21T>A
c.260-21T>A (n.260-21T>A)
 dbSNP
12g.51916016G>ACA2618859511ACVRL1c.779-20G>A (n.779-20G>A)
c.1049-20G>A (n.1049-20G>A)
c.527-20G>A (n.527-20G>A)
n.304G>A
c.1091-20G>A (n.1091-20G>A)
c.54-20G>A
c.260-20G>A (n.260-20G>A)
 dbSNP gnomAD v4
12g.51916016G>TCA2618859512ACVRL1c.779-20G>T (n.779-20G>T)
c.1049-20G>T (n.1049-20G>T)
c.527-20G>T (n.527-20G>T)
n.304G>T
c.1091-20G>T (n.1091-20G>T)
c.54-20G>T
c.260-20G>T (n.260-20G>T)
 gnomAD v4
12g.51916017A>GCA2618859513ACVRL1c.779-19A>G (n.779-19A>G)
c.1049-19A>G (n.1049-19A>G)
c.527-19A>G (n.527-19A>G)
n.305A>G
c.1091-19A>G (n.1091-19A>G)
c.54-19A>G
c.260-19A>G (n.260-19A>G)
 gnomAD v4
12g.51916018C=CA2036236682ACVRL1c.779-18C= (n.779-18C=)
c.1049-18C= (n.1049-18C=)
c.527-18C= (n.527-18C=)
n.306C=
c.1091-18C= (n.1091-18C=)
c.54-18C=
c.260-18C= (n.260-18C=)
12g.51916018C>GCA689766780ACVRL1c.779-18C>G (n.779-18C>G)
c.1049-18C>G (n.1049-18C>G)
c.527-18C>G (n.527-18C>G)
n.306C>G
c.1091-18C>G (n.1091-18C>G)
c.54-18C>G
c.260-18C>G (n.260-18C>G)
 dbSNP
12g.51916018C>TCA2618859514ACVRL1c.779-18C>T (n.779-18C>T)
c.1049-18C>T (n.1049-18C>T)
c.527-18C>T (n.527-18C>T)
n.306C>T
c.1091-18C>T (n.1091-18C>T)
c.54-18C>T
c.260-18C>T (n.260-18C>T)
 gnomAD v4
12g.51916020G>ACA689766787ACVRL1c.779-16G>A (n.779-16G>A)
c.1049-16G>A (n.1049-16G>A)
c.527-16G>A (n.527-16G>A)
n.308G>A
c.1091-16G>A (n.1091-16G>A)
c.54-16G>A
c.260-16G>A (n.260-16G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51916020G=CA2036236686ACVRL1c.779-16G= (n.779-16G=)
c.1049-16G= (n.1049-16G=)
c.527-16G= (n.527-16G=)
n.308G=
c.1091-16G= (n.1091-16G=)
c.54-16G=
c.260-16G= (n.260-16G=)
12g.51916020G>TCA2575161513ACVRL1c.779-16G>T (n.779-16G>T)
c.1049-16G>T (n.1049-16G>T)
c.527-16G>T (n.527-16G>T)
n.308G>T
c.1091-16G>T (n.1091-16G>T)
c.54-16G>T
c.260-16G>T (n.260-16G>T)
12g.51916020_51916024delCA2795983140ACVRL1c.779-16_779-12del (n.779-16_779-12del)
c.1049-16_1049-12del (n.1049-16_1049-12del)
c.527-16_527-12del (n.527-16_527-12del)
n.308_312del
c.1091-16_1091-12del (n.1091-16_1091-12del)
c.54-16_54-12del
c.260-16_260-12del (n.260-16_260-12del)
12g.51916021G>ACA6573056ACVRL1c.779-15G>A (n.779-15G>A)
c.1049-15G>A (n.1049-15G>A)
c.527-15G>A (n.527-15G>A)
n.309G>A
c.1091-15G>A (n.1091-15G>A)
c.54-15G>A
c.260-15G>A (n.260-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916021G>CCA6573055ACVRL1c.779-15G>C (n.779-15G>C)
c.1049-15G>C (n.1049-15G>C)
c.527-15G>C (n.527-15G>C)
n.309G>C
c.1091-15G>C (n.1091-15G>C)
c.54-15G>C
c.260-15G>C (n.260-15G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916021G=CA2036236691ACVRL1c.779-15G= (n.779-15G=)
c.1049-15G= (n.1049-15G=)
c.527-15G= (n.527-15G=)
n.309G=
c.1091-15G= (n.1091-15G=)
c.54-15G=
c.260-15G= (n.260-15G=)
12g.51916022C>ACA2618859517ACVRL1c.779-14C>A (n.779-14C>A)
c.1049-14C>A (n.1049-14C>A)
c.527-14C>A (n.527-14C>A)
n.310C>A
c.1091-14C>A (n.1091-14C>A)
c.54-14C>A
c.260-14C>A (n.260-14C>A)
 gnomAD v4
12g.51916022C>TCA2726343344ACVRL1c.779-14C>T (n.779-14C>T)
c.1049-14C>T (n.1049-14C>T)
c.527-14C>T (n.527-14C>T)
n.310C>T
c.1091-14C>T (n.1091-14C>T)
c.54-14C>T
c.260-14C>T (n.260-14C>T)
 dbSNP
12g.51916025C>ACA6573057ACVRL1c.779-11C>A (n.779-11C>A)
c.1049-11C>A (n.1049-11C>A)
c.527-11C>A (n.527-11C>A)
n.313C>A
c.1091-11C>A (n.1091-11C>A)
c.54-11C>A
c.260-11C>A (n.260-11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916025C=CA2036236696ACVRL1c.779-11C= (n.779-11C=)
c.1049-11C= (n.1049-11C=)
c.527-11C= (n.527-11C=)
n.313C=
c.1091-11C= (n.1091-11C=)
c.54-11C=
c.260-11C= (n.260-11C=)
12g.51916025C>TCA2618859519ACVRL1c.779-11C>T (n.779-11C>T)
c.1049-11C>T (n.1049-11C>T)
c.527-11C>T (n.527-11C>T)
n.313C>T
c.1091-11C>T (n.1091-11C>T)
c.54-11C>T
c.260-11C>T (n.260-11C>T)
 gnomAD v4
12g.51916026A=CA2036236699ACVRL1c.779-10A= (n.779-10A=)
c.1049-10A= (n.1049-10A=)
c.527-10A= (n.527-10A=)
n.314A=
c.1091-10A= (n.1091-10A=)
c.54-10A=
c.260-10A= (n.260-10A=)
12g.51916026A>CCA2036236698ACVRL1c.779-10A>C (n.779-10A>C)
c.1049-10A>C (n.1049-10A>C)
c.527-10A>C (n.527-10A>C)
n.314A>C
c.1091-10A>C (n.1091-10A>C)
c.54-10A>C
c.260-10A>C (n.260-10A>C)
 dbSNP
12g.51916027C>ACA2618859521ACVRL1c.779-9C>A (n.779-9C>A)
c.1049-9C>A (n.1049-9C>A)
c.527-9C>A (n.527-9C>A)
n.315C>A
c.1091-9C>A (n.1091-9C>A)
c.54-9C>A
c.260-9C>A (n.260-9C>A)
 gnomAD v4
12g.51916027C>TCA479809847ACVRL1c.779-9C>T (n.779-9C>T)
c.1049-9C>T (n.1049-9C>T)
c.527-9C>T (n.527-9C>T)
n.315C>T
c.1091-9C>T (n.1091-9C>T)
c.54-9C>T
c.260-9C>T (n.260-9C>T)
 ClinVar dbSNP gnomAD v4
12g.51916031delCA2618859522ACVRL1c.779-5del (n.779-5del)
c.1049-5del (n.1049-5del)
c.527-5del (n.527-5del)
n.319del
c.1091-5del (n.1091-5del)
c.54-5del
c.260-5del (n.260-5del)
 gnomAD v4
12g.51916029C>ACA2618859523ACVRL1c.779-7C>A (n.779-7C>A)
c.1049-7C>A (n.1049-7C>A)
c.527-7C>A (n.527-7C>A)
n.317C>A
c.1091-7C>A (n.1091-7C>A)
c.54-7C>A
c.260-7C>A (n.260-7C>A)
 gnomAD v4
12g.51916029C>GCA2618859524ACVRL1c.779-7C>G (n.779-7C>G)
c.1049-7C>G (n.1049-7C>G)
c.527-7C>G (n.527-7C>G)
n.317C>G
c.1091-7C>G (n.1091-7C>G)
c.54-7C>G
c.260-7C>G (n.260-7C>G)
 gnomAD v4
12g.51916029_51916030insACA2795983141ACVRL1c.779-7_779-6insA (n.779-7_779-6insA)
c.1049-7_1049-6insA (n.1049-7_1049-6insA)
c.527-7_527-6insA (n.527-7_527-6insA)
n.317_318insA
c.1091-7_1091-6insA (n.1091-7_1091-6insA)
c.54-7_54-6insA
c.260-7_260-6insA (n.260-7_260-6insA)
12g.51916030C>ACA2618859527ACVRL1c.779-6C>A (n.779-6C>A)
c.1049-6C>A (n.1049-6C>A)
c.527-6C>A (n.527-6C>A)
n.318C>A
c.1091-6C>A (n.1091-6C>A)
c.54-6C>A
c.260-6C>A (n.260-6C>A)
 gnomAD v4
12g.51916030C=CA2036236702ACVRL1c.779-6C= (n.779-6C=)
c.1049-6C= (n.1049-6C=)
c.527-6C= (n.527-6C=)
n.318C=
c.1091-6C= (n.1091-6C=)
c.54-6C=
c.260-6C= (n.260-6C=)
12g.51916030C>TCA2036236703ACVRL1c.779-6C>T (n.779-6C>T)
c.1049-6C>T (n.1049-6C>T)
c.527-6C>T (n.527-6C>T)
n.318C>T
c.1091-6C>T (n.1091-6C>T)
c.54-6C>T
c.260-6C>T (n.260-6C>T)
 dbSNP gnomAD v4
12g.51916032_51916038delCA2618859526ACVRL1c.779-4_781del
c.1049-4_1051del
c.527-4_529del
n.320_326del
c.1091-4_1093del
c.54-4_56del
c.260-4_262del
 gnomAD v4
12g.51916031C>ACA2726057163ACVRL1c.779-5C>A (n.779-5C>A)
c.1049-5C>A (n.1049-5C>A)
c.527-5C>A (n.527-5C>A)
n.319C>A
c.1091-5C>A (n.1091-5C>A)
c.54-5C>A
c.260-5C>A (n.260-5C>A)
 dbSNP
12g.51916031C=CA2036236705ACVRL1c.779-5C= (n.779-5C=)
c.1049-5C= (n.1049-5C=)
c.527-5C= (n.527-5C=)
n.319C=
c.1091-5C= (n.1091-5C=)
c.54-5C=
c.260-5C= (n.260-5C=)
12g.51916031C>GCA2618859528ACVRL1c.779-5C>G (n.779-5C>G)
c.1049-5C>G (n.1049-5C>G)
c.527-5C>G (n.527-5C>G)
n.319C>G
c.1091-5C>G (n.1091-5C>G)
c.54-5C>G
c.260-5C>G (n.260-5C>G)
 gnomAD v4
12g.51916031C>TCA6573058ACVRL1c.779-5C>T (n.779-5C>T)
c.1049-5C>T (n.1049-5C>T)
c.527-5C>T (n.527-5C>T)
n.319C>T
c.1091-5C>T (n.1091-5C>T)
c.54-5C>T
c.260-5C>T (n.260-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916032_51916034delinsCCCA2695216666ACVRL1c.779-4_779-2delinsCC (n.779-4_779-2delinsCC)
c.1049-4_1049-2delinsCC (n.1049-4_1049-2delinsCC)
c.527-4_527-2delinsCC (n.527-4_527-2delinsCC)
n.320_322delinsCC
c.1091-4_1091-2delinsCC (n.1091-4_1091-2delinsCC)
c.54-4_54-2delinsCC
c.260-4_260-2delinsCC (n.260-4_260-2delinsCC)
12g.51916033C>TCA2618859530ACVRL1c.779-3C>T (n.779-3C>T)
c.1049-3C>T (n.1049-3C>T)
c.527-3C>T (n.527-3C>T)
n.321C>T
c.1091-3C>T (n.1091-3C>T)
c.54-3C>T
c.260-3C>T (n.260-3C>T)
 gnomAD v4
12g.51916034A>CCA384901947ACVRL1c.779-2A>C (n.779-2A>C)
c.1049-2A>C (n.1049-2A>C)
c.527-2A>C (n.527-2A>C)
n.322A>C
c.1091-2A>C (n.1091-2A>C)
c.54-2A>C
c.260-2A>C (n.260-2A>C)
12g.51916034A>GCA384901949ACVRL1c.779-2A>G (n.779-2A>G)
c.1049-2A>G (n.1049-2A>G)
c.527-2A>G (n.527-2A>G)
n.322A>G
c.1091-2A>G (n.1091-2A>G)
c.54-2A>G
c.260-2A>G (n.260-2A>G)
12g.51916034A>TCA384901951ACVRL1c.779-2A>T (n.779-2A>T)
c.1049-2A>T (n.1049-2A>T)
c.527-2A>T (n.527-2A>T)
n.322A>T
c.1091-2A>T (n.1091-2A>T)
c.54-2A>T
c.260-2A>T (n.260-2A>T)
12g.51916035G>ACA16614167ACVRL1c.779-1G>A (n.779-1G>A)
c.1049-1G>A (n.1049-1G>A)
c.527-1G>A (n.527-1G>A)
n.323G>A
c.1091-1G>A (n.1091-1G>A)
c.54-1G>A
c.260-1G>A (n.260-1G>A)
 ClinVar dbSNP
12g.51916035G>CCA384901952ACVRL1c.779-1G>C (n.779-1G>C)
c.1049-1G>C (n.1049-1G>C)
c.527-1G>C (n.527-1G>C)
n.323G>C
c.1091-1G>C (n.1091-1G>C)
c.54-1G>C
c.260-1G>C (n.260-1G>C)
12g.51916035G=CA2036236709ACVRL1c.779-1G= (n.779-1G=)
c.1049-1G= (n.1049-1G=)
c.527-1G= (n.527-1G=)
n.323G=
c.1091-1G= (n.1091-1G=)
c.54-1G=
c.260-1G= (n.260-1G=)
12g.51916035G>TCA384901953ACVRL1c.779-1G>T (n.779-1G>T)
c.1049-1G>T (n.1049-1G>T)
c.527-1G>T (n.527-1G>T)
n.323G>T
c.1091-1G>T (n.1091-1G>T)
c.54-1G>T
c.260-1G>T (n.260-1G>T)
 ClinVar dbSNP
12g.51916036G>ACA6573059ACVRL1c.779G>A (p.Gly260Asp)
c.1049G>A (p.Gly350Asp)
c.527G>A (p.Gly176Asp)
n.324G>A
c.1091G>A (p.Gly364Asp)
c.54G>A
c.260G>A (p.Gly87Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916036G>CCA384901957ACVRL1c.779G>C (p.Gly260Ala)
c.1049G>C (p.Gly350Ala)
c.527G>C (p.Gly176Ala)
n.324G>C
c.1091G>C (p.Gly364Ala)
c.54G>C
c.260G>C (p.Gly87Ala)
12g.51916036G=CA2036236716ACVRL1c.779G= (p.Gly260=)
c.1049G= (p.Gly350=)
c.527G= (p.Gly176=)
n.324G=
c.1091G= (p.Gly364=)
c.54G=
c.260G= (p.Gly87=)
12g.51916036G>TCA384901959ACVRL1c.779G>T (p.Gly260Val)
c.1049G>T (p.Gly350Val)
c.527G>T (p.Gly176Val)
n.324G>T
c.1091G>T (p.Gly364Val)
c.54G>T
c.260G>T (p.Gly87Val)
 ClinVar
12g.51916037C>ACA479809905ACVRL1c.780C>A (p.Gly260=)
c.1050C>A (p.Gly350=)
c.528C>A (p.Gly176=)
n.325C>A
c.1092C>A (p.Gly364=)
c.55C>A
c.261C>A (p.Gly87=)
 dbSNP gnomAD v4
12g.51916037C>GCA479809897ACVRL1c.780C>G (p.Gly260=)
c.1050C>G (p.Gly350=)
c.528C>G (p.Gly176=)
n.325C>G
c.1092C>G (p.Gly364=)
c.55C>G
c.261C>G (p.Gly87=)
12g.51916037C>TCA479809900ACVRL1c.780C>T (p.Gly260=)
c.1050C>T (p.Gly350=)
c.528C>T (p.Gly176=)
n.325C>T
c.1092C>T (p.Gly364=)
c.55C>T
c.261C>T (p.Gly87=)
12g.51916038C>ACA384901962ACVRL1c.781C>A (p.Leu261Met)
c.1051C>A (p.Leu351Met)
c.529C>A (p.Leu177Met)
n.326C>A
c.1093C>A (p.Leu365Met)
c.56C>A
c.262C>A (p.Leu88Met)
12g.51916038C>GCA384901965ACVRL1c.781C>G (p.Leu261Val)
c.1051C>G (p.Leu351Val)
c.529C>G (p.Leu177Val)
n.326C>G
c.1093C>G (p.Leu365Val)
c.56C>G
c.262C>G (p.Leu88Val)
12g.51916038C>TCA479809917ACVRL1c.781C>T (p.Leu261=)
c.1051C>T (p.Leu351=)
c.529C>T (p.Leu177=)
n.326C>T
c.1093C>T (p.Leu365=)
c.56C>T
c.262C>T (p.Leu88=)
12g.51916039T>ACA384901974ACVRL1c.782T>A (p.Leu261Gln)
c.1052T>A (p.Leu351Gln)
c.530T>A (p.Leu177Gln)
n.327T>A
c.1094T>A (p.Leu365Gln)
c.57T>A
c.263T>A (p.Leu88Gln)
12g.51916039T>CCA384901971ACVRL1c.782T>C (p.Leu261Pro)
c.1052T>C (p.Leu351Pro)
c.530T>C (p.Leu177Pro)
n.327T>C
c.1094T>C (p.Leu365Pro)
c.57T>C
c.263T>C (p.Leu88Pro)
 ClinVar
12g.51916039T>GCA384901968ACVRL1c.782T>G (p.Leu261Arg)
c.1052T>G (p.Leu351Arg)
c.530T>G (p.Leu177Arg)
n.327T>G
c.1094T>G (p.Leu365Arg)
c.57T>G
c.263T>G (p.Leu88Arg)
12g.51916040G>ACA479809935ACVRL1c.783G>A (p.Leu261=)
c.1053G>A (p.Leu351=)
c.531G>A (p.Leu177=)
n.328G>A
c.1095G>A (p.Leu365=)
c.58G>A
c.264G>A (p.Leu88=)
12g.51916040G>CCA479809960ACVRL1c.783G>C (p.Leu261=)
c.1053G>C (p.Leu351=)
c.531G>C (p.Leu177=)
n.328G>C
c.1095G>C (p.Leu365=)
c.58G>C
c.264G>C (p.Leu88=)
12g.51916040G>TCA479809940ACVRL1c.783G>T (p.Leu261=)
c.1053G>T (p.Leu351=)
c.531G>T (p.Leu177=)
n.328G>T
c.1095G>T (p.Leu365=)
c.58G>T
c.264G>T (p.Leu88=)
12g.51916041G>ACA384901975ACVRL1c.784G>A (p.Ala262Thr)
c.1054G>A (p.Ala352Thr)
c.532G>A (p.Ala178Thr)
n.329G>A
c.1096G>A (p.Ala366Thr)
c.59G>A
c.265G>A (p.Ala89Thr)
 ClinVar
12g.51916041G>CCA384901977ACVRL1c.784G>C (p.Ala262Pro)
c.1054G>C (p.Ala352Pro)
c.532G>C (p.Ala178Pro)
n.329G>C
c.1096G>C (p.Ala366Pro)
c.59G>C
c.265G>C (p.Ala89Pro)
12g.51916041G>TCA384901979ACVRL1c.784G>T (p.Ala262Ser)
c.1054G>T (p.Ala352Ser)
c.532G>T (p.Ala178Ser)
n.329G>T
c.1096G>T (p.Ala366Ser)
c.59G>T
c.265G>T (p.Ala89Ser)
12g.51916041_51916042delinsGCCA2036236719ACVRL1c.784_785delinsGC (p.Ala262=)
c.1054_1055delinsGC (p.Ala352=)
c.532_533delinsGC (p.Ala178=)
n.329_330delinsGC
c.1096_1097delinsGC (p.Ala366=)
c.59_60delinsGC
c.265_266delinsGC (p.Ala89=)
12g.51916042delCA916081670ACVRL1c.785del (p.Ala262ValfsTer2)
c.1055del (p.Ala352ValfsTer2)
c.533del (p.Ala178ValfsTer2)
n.330del
c.1097del (p.Ala366ValfsTer2)
c.60del
c.266del (p.Ala89ValfsTer2)
 ClinVar dbSNP gnomAD v4
12g.51916042C>ACA384901981ACVRL1c.785C>A (p.Ala262Asp)
c.1055C>A (p.Ala352Asp)
c.533C>A (p.Ala178Asp)
n.330C>A
c.1097C>A (p.Ala366Asp)
c.60C>A
c.266C>A (p.Ala89Asp)
 ClinVar dbSNP gnomAD v4
12g.51916042C=CA2036236725ACVRL1c.785C= (p.Ala262=)
c.1055C= (p.Ala352=)
c.533C= (p.Ala178=)
n.330C=
c.1097C= (p.Ala366=)
c.60C=
c.266C= (p.Ala89=)
12g.51916042C>GCA384901983ACVRL1c.785C>G (p.Ala262Gly)
c.1055C>G (p.Ala352Gly)
c.533C>G (p.Ala178Gly)
n.330C>G
c.1097C>G (p.Ala366Gly)
c.60C>G
c.266C>G (p.Ala89Gly)
12g.51916042C>TCA384901991ACVRL1c.785C>T (p.Ala262Val)
c.1055C>T (p.Ala352Val)
c.533C>T (p.Ala178Val)
n.330C>T
c.1097C>T (p.Ala366Val)
c.60C>T
c.266C>T (p.Ala89Val)
 ClinVar
12g.51916043T>ACA479809975ACVRL1c.786T>A (p.Ala262=)
c.1056T>A (p.Ala352=)
c.534T>A (p.Ala178=)
n.331T>A
c.1098T>A (p.Ala366=)
c.61T>A
c.267T>A (p.Ala89=)
12g.51916043T>CCA236364811ACVRL1c.786T>C (p.Ala262=)
c.1056T>C (p.Ala352=)
c.534T>C (p.Ala178=)
n.331T>C
c.1098T>C (p.Ala366=)
c.61T>C
c.267T>C (p.Ala89=)
 ClinVar dbSNP gnomAD v4
12g.51916043T>GCA479809983ACVRL1c.786T>G (p.Ala262=)
c.1056T>G (p.Ala352=)
c.534T>G (p.Ala178=)
n.331T>G
c.1098T>G (p.Ala366=)
c.61T>G
c.267T>G (p.Ala89=)
12g.51916043T=CA2036236727ACVRL1c.786T= (p.Ala262=)
c.1056T= (p.Ala352=)
c.534T= (p.Ala178=)
n.331T=
c.1098T= (p.Ala366=)
c.61T=
c.267T= (p.Ala89=)
12g.51916044G>ACA384902007ACVRL1c.787G>A (p.Val263Met)
c.1057G>A (p.Val353Met)
c.535G>A (p.Val179Met)
n.332G>A
c.1099G>A (p.Val367Met)
c.62G>A
c.268G>A (p.Val90Met)
 dbSNP
12g.51916044G>CCA384902009ACVRL1c.787G>C (p.Val263Leu)
c.1057G>C (p.Val353Leu)
c.535G>C (p.Val179Leu)
n.332G>C
c.1099G>C (p.Val367Leu)
c.62G>C
c.268G>C (p.Val90Leu)
12g.51916044G>TCA384902011ACVRL1c.787G>T (p.Val263Leu)
c.1057G>T (p.Val353Leu)
c.535G>T (p.Val179Leu)
n.332G>T
c.1099G>T (p.Val367Leu)
c.62G>T
c.268G>T (p.Val90Leu)
 COSMIC COSMIC
12g.51916045T>ACA384902015ACVRL1c.788T>A (p.Val263Glu)
c.1058T>A (p.Val353Glu)
c.536T>A (p.Val179Glu)
n.333T>A
c.1100T>A (p.Val367Glu)
c.63T>A
c.269T>A (p.Val90Glu)
12g.51916045T>CCA384902016ACVRL1c.788T>C (p.Val263Ala)
c.1058T>C (p.Val353Ala)
c.536T>C (p.Val179Ala)
n.333T>C
c.1100T>C (p.Val367Ala)
c.63T>C
c.269T>C (p.Val90Ala)
12g.51916045T>GCA384902017ACVRL1c.788T>G (p.Val263Gly)
c.1058T>G (p.Val353Gly)
c.536T>G (p.Val179Gly)
n.333T>G
c.1100T>G (p.Val367Gly)
c.63T>G
c.269T>G (p.Val90Gly)
12g.51916046G>ACA479810000ACVRL1c.789G>A (p.Val263=)
c.1059G>A (p.Val353=)
c.537G>A (p.Val179=)
n.334G>A
c.1101G>A (p.Val367=)
c.64G>A
c.270G>A (p.Val90=)
 COSMIC
12g.51916046G>CCA479810004ACVRL1c.789G>C (p.Val263=)
c.1059G>C (p.Val353=)
c.537G>C (p.Val179=)
n.334G>C
c.1101G>C (p.Val367=)
c.64G>C
c.270G>C (p.Val90=)
12g.51916046G>TCA479810007ACVRL1c.789G>T (p.Val263=)
c.1059G>T (p.Val353=)
c.537G>T (p.Val179=)
n.334G>T
c.1101G>T (p.Val367=)
c.64G>T
c.270G>T (p.Val90=)
12g.51916049_51916067dupCA2695216667ACVRL1c.792_810dup (p.Tyr271AlafsTer?)
c.1062_1080dup (p.Tyr361AlafsTer?)
c.540_558dup (p.Tyr187AlafsTer?)
n.337_355dup
c.1104_1122dup (p.Tyr375AlafsTer?)
c.67_85dup
c.273_291dup (p.Tyr98AlafsTer?)
12g.51916047A>CCA384902019ACVRL1c.790A>C (p.Met264Leu)
c.1060A>C (p.Met354Leu)
c.538A>C (p.Met180Leu)
n.335A>C
c.1102A>C (p.Met368Leu)
c.65A>C
c.271A>C (p.Met91Leu)
12g.51916047A>GCA384902023ACVRL1c.790A>G (p.Met264Val)
c.1060A>G (p.Met354Val)
c.538A>G (p.Met180Val)
n.335A>G
c.1102A>G (p.Met368Val)
c.65A>G
c.271A>G (p.Met91Val)
12g.51916047A>TCA384902018ACVRL1c.790A>T (p.Met264Leu)
c.1060A>T (p.Met354Leu)
c.538A>T (p.Met180Leu)
n.335A>T
c.1102A>T (p.Met368Leu)
c.65A>T
c.271A>T (p.Met91Leu)
12g.51916048_51916055delCA2695216669ACVRL1c.791_798del (p.Met264ThrfsTer?)
c.1061_1068del (p.Met354ThrfsTer?)
c.539_546del (p.Met180ThrfsTer?)
n.336_343del
c.1103_1110del (p.Met368ThrfsTer?)
c.66_73del
c.272_279del (p.Met91ThrfsTer?)
12g.51916048T>ACA384902026ACVRL1c.791T>A (p.Met264Lys)
c.1061T>A (p.Met354Lys)
c.539T>A (p.Met180Lys)
n.336T>A
c.1103T>A (p.Met368Lys)
c.66T>A
c.272T>A (p.Met91Lys)
12g.51916048T>CCA384902031ACVRL1c.791T>C (p.Met264Thr)
c.1061T>C (p.Met354Thr)
c.539T>C (p.Met180Thr)
n.336T>C
c.1103T>C (p.Met368Thr)
c.66T>C
c.272T>C (p.Met91Thr)
12g.51916048T>GCA384902032ACVRL1c.791T>G (p.Met264Arg)
c.1061T>G (p.Met354Arg)
c.539T>G (p.Met180Arg)
n.336T>G
c.1103T>G (p.Met368Arg)
c.66T>G
c.272T>G (p.Met91Arg)
 dbSNP
12g.51916049G>ACA384902035ACVRL1c.792G>A (p.Met264Ile)
c.1062G>A (p.Met354Ile)
c.540G>A (p.Met180Ile)
n.337G>A
c.1104G>A (p.Met368Ile)
c.67G>A
c.273G>A (p.Met91Ile)
12g.51916049G>CCA384902036ACVRL1c.792G>C (p.Met264Ile)
c.1062G>C (p.Met354Ile)
c.540G>C (p.Met180Ile)
n.337G>C
c.1104G>C (p.Met368Ile)
c.67G>C
c.273G>C (p.Met91Ile)
12g.51916049G>TCA384902037ACVRL1c.792G>T (p.Met264Ile)
c.1062G>T (p.Met354Ile)
c.540G>T (p.Met180Ile)
n.337G>T
c.1104G>T (p.Met368Ile)
c.67G>T
c.273G>T (p.Met91Ile)
12g.51916050C>ACA384902041ACVRL1c.793C>A (p.His265Asn)
c.1063C>A (p.His355Asn)
c.541C>A (p.His181Asn)
n.338C>A
c.1105C>A (p.His369Asn)
c.68C>A
c.274C>A (p.His92Asn)
12g.51916050C=CA2036236728ACVRL1c.793C= (p.His265=)
c.1063C= (p.His355=)
c.541C= (p.His181=)
n.338C=
c.1105C= (p.His369=)
c.68C=
c.274C= (p.His92=)
12g.51916050C>GCA384902040ACVRL1c.793C>G (p.His265Asp)
c.1063C>G (p.His355Asp)
c.541C>G (p.His181Asp)
n.338C>G
c.1105C>G (p.His369Asp)
c.68C>G
c.274C>G (p.His92Asp)
12g.51916050C>TCA384902038ACVRL1c.793C>T (p.His265Tyr)
c.1063C>T (p.His355Tyr)
c.541C>T (p.His181Tyr)
n.338C>T
c.1105C>T (p.His369Tyr)
c.68C>T
c.274C>T (p.His92Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.51916051A=CA2036236730ACVRL1c.794A= (p.His265=)
c.1064A= (p.His355=)
c.542A= (p.His181=)
n.339A=
c.1106A= (p.His369=)
c.69A=
c.275A= (p.His92=)
12g.51916051A>CCA6573060ACVRL1c.794A>C (p.His265Pro)
c.1064A>C (p.His355Pro)
c.542A>C (p.His181Pro)
n.339A>C
c.1106A>C (p.His369Pro)
c.69A>C
c.275A>C (p.His92Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916051A>GCA384902043ACVRL1c.794A>G (p.His265Arg)
c.1064A>G (p.His355Arg)
c.542A>G (p.His181Arg)
n.339A>G
c.1106A>G (p.His369Arg)
c.69A>G
c.275A>G (p.His92Arg)
12g.51916051A>TCA384902046ACVRL1c.794A>T (p.His265Leu)
c.1064A>T (p.His355Leu)
c.542A>T (p.His181Leu)
n.339A>T
c.1106A>T (p.His369Leu)
c.69A>T
c.275A>T (p.His92Leu)
12g.51916052C>ACA384902048ACVRL1c.795C>A (p.His265Gln)
c.1065C>A (p.His355Gln)
c.543C>A (p.His181Gln)
n.340C>A
c.1107C>A (p.His369Gln)
c.70C>A
c.276C>A (p.His92Gln)
12g.51916052C=CA2036236733ACVRL1c.795C= (p.His265=)
c.1065C= (p.His355=)
c.543C= (p.His181=)
n.340C=
c.1107C= (p.His369=)
c.70C=
c.276C= (p.His92=)
12g.51916052C>GCA384902049ACVRL1c.795C>G (p.His265Gln)
c.1065C>G (p.His355Gln)
c.543C>G (p.His181Gln)
n.340C>G
c.1107C>G (p.His369Gln)
c.70C>G
c.276C>G (p.His92Gln)
 gnomAD v4
12g.51916052C>TCA236364822ACVRL1c.795C>T (p.His265=)
c.1065C>T (p.His355=)
c.543C>T (p.His181=)
n.340C>T
c.1107C>T (p.His369=)
c.70C>T
c.276C>T (p.His92=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916053T>ACA384902061ACVRL1c.796T>A (p.Ser266Thr)
c.1066T>A (p.Ser356Thr)
c.544T>A (p.Ser182Thr)
n.341T>A
c.1108T>A (p.Ser370Thr)
c.71T>A
c.277T>A (p.Ser93Thr)
12g.51916053T>CCA384902066ACVRL1c.796T>C (p.Ser266Pro)
c.1066T>C (p.Ser356Pro)
c.544T>C (p.Ser182Pro)
n.341T>C
c.1108T>C (p.Ser370Pro)
c.71T>C
c.277T>C (p.Ser93Pro)
12g.51916053T>GCA384902063ACVRL1c.796T>G (p.Ser266Ala)
c.1066T>G (p.Ser356Ala)
c.544T>G (p.Ser182Ala)
n.341T>G
c.1108T>G (p.Ser370Ala)
c.71T>G
c.277T>G (p.Ser93Ala)
12g.51916054C>ACA384902067ACVRL1c.797C>A (p.Ser266Ter)
c.1067C>A (p.Ser356Ter)
c.545C>A (p.Ser182Ter)
n.342C>A
c.1109C>A (p.Ser370Ter)
c.72C>A
c.278C>A (p.Ser93Ter)
12g.51916054C=CA2036236736ACVRL1c.797C= (p.Ser266=)
c.1067C= (p.Ser356=)
c.545C= (p.Ser182=)
n.342C=
c.1109C= (p.Ser370=)
c.72C=
c.278C= (p.Ser93=)
12g.51916054C>GCA384902068ACVRL1c.797C>G (p.Ser266Ter)
c.1067C>G (p.Ser356Ter)
c.545C>G (p.Ser182Ter)
n.342C>G
c.1109C>G (p.Ser370Ter)
c.72C>G
c.278C>G (p.Ser93Ter)
12g.51916054C>TCA384902070ACVRL1c.797C>T (p.Ser266Leu)
c.1067C>T (p.Ser356Leu)
c.545C>T (p.Ser182Leu)
n.342C>T
c.1109C>T (p.Ser370Leu)
c.72C>T
c.278C>T (p.Ser93Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916055A>CCA479810087ACVRL1c.798A>C (p.Ser266=)
c.1068A>C (p.Ser356=)
c.546A>C (p.Ser182=)
n.343A>C
c.1110A>C (p.Ser370=)
c.73A>C
c.279A>C (p.Ser93=)
12g.51916055A>GCA479810086ACVRL1c.798A>G (p.Ser266=)
c.1068A>G (p.Ser356=)
c.546A>G (p.Ser182=)
n.343A>G
c.1110A>G (p.Ser370=)
c.73A>G
c.279A>G (p.Ser93=)
 gnomAD v4
12g.51916055A>TCA479810082ACVRL1c.798A>T (p.Ser266=)
c.1068A>T (p.Ser356=)
c.546A>T (p.Ser182=)
n.343A>T
c.1110A>T (p.Ser370=)
c.73A>T
c.279A>T (p.Ser93=)
12g.51916056C>ACA384902077ACVRL1c.799C>A (p.Gln267Lys)
c.1069C>A (p.Gln357Lys)
c.547C>A (p.Gln183Lys)
n.344C>A
c.1111C>A (p.Gln371Lys)
c.74C>A
c.280C>A (p.Gln94Lys)
12g.51916056C>GCA384902078ACVRL1c.799C>G (p.Gln267Glu)
c.1069C>G (p.Gln357Glu)
c.547C>G (p.Gln183Glu)
n.344C>G
c.1111C>G (p.Gln371Glu)
c.74C>G
c.280C>G (p.Gln94Glu)
12g.51916056C>TCA384902081ACVRL1c.799C>T (p.Gln267Ter)
c.1069C>T (p.Gln357Ter)
c.547C>T (p.Gln183Ter)
n.344C>T
c.1111C>T (p.Gln371Ter)
c.74C>T
c.280C>T (p.Gln94Ter)
 ClinVar dbSNP
12g.51916057A=CA2036236738ACVRL1c.800A= (p.Gln267=)
c.1070A= (p.Gln357=)
c.548A= (p.Gln183=)
n.345A=
c.1112A= (p.Gln371=)
c.75A=
c.281A= (p.Gln94=)
12g.51916057A>CCA6573061ACVRL1c.800A>C (p.Gln267Pro)
c.1070A>C (p.Gln357Pro)
c.548A>C (p.Gln183Pro)
n.345A>C
c.1112A>C (p.Gln371Pro)
c.75A>C
c.281A>C (p.Gln94Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916057A>GCA384902084ACVRL1c.800A>G (p.Gln267Arg)
c.1070A>G (p.Gln357Arg)
c.548A>G (p.Gln183Arg)
n.345A>G
c.1112A>G (p.Gln371Arg)
c.75A>G
c.281A>G (p.Gln94Arg)
 dbSNP
12g.51916057A>TCA384902085ACVRL1c.800A>T (p.Gln267Leu)
c.1070A>T (p.Gln357Leu)
c.548A>T (p.Gln183Leu)
n.345A>T
c.1112A>T (p.Gln371Leu)
c.75A>T
c.281A>T (p.Gln94Leu)
12g.51916058G>ACA479810108ACVRL1c.801G>A (p.Gln267=)
c.1071G>A (p.Gln357=)
c.549G>A (p.Gln183=)
n.346G>A
c.1113G>A (p.Gln371=)
c.76G>A
c.282G>A (p.Gln94=)
 ClinVar dbSNP gnomAD v4
12g.51916058G>CCA384902086ACVRL1c.801G>C (p.Gln267His)
c.1071G>C (p.Gln357His)
c.549G>C (p.Gln183His)
n.346G>C
c.1113G>C (p.Gln371His)
c.76G>C
c.282G>C (p.Gln94His)
12g.51916058G=CA2036236743ACVRL1c.801G= (p.Gln267=)
c.1071G= (p.Gln357=)
c.549G= (p.Gln183=)
n.346G=
c.1113G= (p.Gln371=)
c.76G=
c.282G= (p.Gln94=)
12g.51916058G>TCA384902089ACVRL1c.801G>T (p.Gln267His)
c.1071G>T (p.Gln357His)
c.549G>T (p.Gln183His)
n.346G>T
c.1113G>T (p.Gln371His)
c.76G>T
c.282G>T (p.Gln94His)
12g.51916060delCA2499221749ACVRL1c.803del (p.Gly268AlafsTer?)
c.1073del (p.Gly358AlafsTer?)
c.551del (p.Gly184AlafsTer?)
n.348del
c.1115del (p.Gly372AlafsTer?)
c.78del
c.284del (p.Gly95AlafsTer?)
 ClinVar dbSNP
12g.51916059G>ACA384902092ACVRL1c.802G>A (p.Gly268Ser)
c.1072G>A (p.Gly358Ser)
c.550G>A (p.Gly184Ser)
n.347G>A
c.1114G>A (p.Gly372Ser)
c.77G>A
c.283G>A (p.Gly95Ser)
12g.51916059G>CCA384902101ACVRL1c.802G>C (p.Gly268Arg)
c.1072G>C (p.Gly358Arg)
c.550G>C (p.Gly184Arg)
n.347G>C
c.1114G>C (p.Gly372Arg)
c.77G>C
c.283G>C (p.Gly95Arg)
12g.51916059G>TCA384902094ACVRL1c.802G>T (p.Gly268Cys)
c.1072G>T (p.Gly358Cys)
c.550G>T (p.Gly184Cys)
n.347G>T
c.1114G>T (p.Gly372Cys)
c.77G>T
c.283G>T (p.Gly95Cys)
12g.51916060G>ACA384902104ACVRL1c.803G>A (p.Gly268Asp)
c.1073G>A (p.Gly358Asp)
c.551G>A (p.Gly184Asp)
n.348G>A
c.1115G>A (p.Gly372Asp)
c.78G>A
c.284G>A (p.Gly95Asp)
12g.51916060G>CCA384902107ACVRL1c.803G>C (p.Gly268Ala)
c.1073G>C (p.Gly358Ala)
c.551G>C (p.Gly184Ala)
n.348G>C
c.1115G>C (p.Gly372Ala)
c.78G>C
c.284G>C (p.Gly95Ala)
12g.51916060G>TCA384902109ACVRL1c.803G>T (p.Gly268Val)
c.1073G>T (p.Gly358Val)
c.551G>T (p.Gly184Val)
n.348G>T
c.1115G>T (p.Gly372Val)
c.78G>T
c.284G>T (p.Gly95Val)
12g.51916061C>ACA479810144ACVRL1c.804C>A (p.Gly268=)
c.1074C>A (p.Gly358=)
c.552C>A (p.Gly184=)
n.349C>A
c.1116C>A (p.Gly372=)
c.79C>A
c.285C>A (p.Gly95=)
12g.51916061C=CA2036236749ACVRL1c.804C= (p.Gly268=)
c.1074C= (p.Gly358=)
c.552C= (p.Gly184=)
n.349C=
c.1116C= (p.Gly372=)
c.79C=
c.285C= (p.Gly95=)
12g.51916061C>GCA479810137ACVRL1c.804C>G (p.Gly268=)
c.1074C>G (p.Gly358=)
c.552C>G (p.Gly184=)
n.349C>G
c.1116C>G (p.Gly372=)
c.79C>G
c.285C>G (p.Gly95=)
12g.51916061C>TCA479810140ACVRL1c.804C>T (p.Gly268=)
c.1074C>T (p.Gly358=)
c.552C>T (p.Gly184=)
n.349C>T
c.1116C>T (p.Gly372=)
c.79C>T
c.285C>T (p.Gly95=)
 dbSNP gnomAD v2 gnomAD v4
12g.51916062A=CA2036236753ACVRL1c.805A= (p.Ser269=)
c.1075A= (p.Ser359=)
c.553A= (p.Ser185=)
n.350A=
c.1117A= (p.Ser373=)
c.80A=
c.286A= (p.Ser96=)
12g.51916062A>CCA384902110ACVRL1c.805A>C (p.Ser269Arg)
c.1075A>C (p.Ser359Arg)
c.553A>C (p.Ser185Arg)
n.350A>C
c.1117A>C (p.Ser373Arg)
c.80A>C
c.286A>C (p.Ser96Arg)
12g.51916062A>GCA384902111ACVRL1c.805A>G (p.Ser269Gly)
c.1075A>G (p.Ser359Gly)
c.553A>G (p.Ser185Gly)
n.350A>G
c.1117A>G (p.Ser373Gly)
c.80A>G
c.286A>G (p.Ser96Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916062A>TCA384902112ACVRL1c.805A>T (p.Ser269Cys)
c.1075A>T (p.Ser359Cys)
c.553A>T (p.Ser185Cys)
n.350A>T
c.1117A>T (p.Ser373Cys)
c.80A>T
c.286A>T (p.Ser96Cys)
12g.51916063G>ACA384902113ACVRL1c.806G>A (p.Ser269Asn)
c.1076G>A (p.Ser359Asn)
c.554G>A (p.Ser185Asn)
n.351G>A
c.1118G>A (p.Ser373Asn)
c.81G>A
c.287G>A (p.Ser96Asn)
12g.51916063G>CCA384902114ACVRL1c.806G>C (p.Ser269Thr)
c.1076G>C (p.Ser359Thr)
c.554G>C (p.Ser185Thr)
n.351G>C
c.1118G>C (p.Ser373Thr)
c.81G>C
c.287G>C (p.Ser96Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.51916063G>TCA384902115ACVRL1c.806G>T (p.Ser269Ile)
c.1076G>T (p.Ser359Ile)
c.554G>T (p.Ser185Ile)
n.351G>T
c.1118G>T (p.Ser373Ile)
c.81G>T
c.287G>T (p.Ser96Ile)
12g.51916064C>ACA384902116ACVRL1c.807C>A (p.Ser269Arg)
c.1077C>A (p.Ser359Arg)
c.555C>A (p.Ser185Arg)
n.352C>A
c.1119C>A (p.Ser373Arg)
c.82C>A
c.288C>A (p.Ser96Arg)
12g.51916064C=CA2036236755ACVRL1c.807C= (p.Ser269=)
c.1077C= (p.Ser359=)
c.555C= (p.Ser185=)
n.352C=
c.1119C= (p.Ser373=)
c.82C=
c.288C= (p.Ser96=)
12g.51916064C>GCA384902117ACVRL1c.807C>G (p.Ser269Arg)
c.1077C>G (p.Ser359Arg)
c.555C>G (p.Ser185Arg)
n.352C>G
c.1119C>G (p.Ser373Arg)
c.82C>G
c.288C>G (p.Ser96Arg)
 dbSNP
12g.51916064C>TCA479810164ACVRL1c.807C>T (p.Ser269=)
c.1077C>T (p.Ser359=)
c.555C>T (p.Ser185=)
n.352C>T
c.1119C>T (p.Ser373=)
c.82C>T
c.288C>T (p.Ser96=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51916065G>ACA236364836ACVRL1c.808G>A (p.Asp270Asn)
c.1078G>A (p.Asp360Asn)
c.556G>A (p.Asp186Asn)
n.353G>A
c.1120G>A (p.Asp374Asn)
c.83G>A
c.289G>A (p.Asp97Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51916065G>CCA384902122ACVRL1c.808G>C (p.Asp270His)
c.1078G>C (p.Asp360His)
c.556G>C (p.Asp186His)
n.353G>C
c.1120G>C (p.Asp374His)
c.83G>C
c.289G>C (p.Asp97His)
12g.51916065G=CA2036236757ACVRL1c.808G= (p.Asp270=)
c.1078G= (p.Asp360=)
c.556G= (p.Asp186=)
n.353G=
c.1120G= (p.Asp374=)
c.83G=
c.289G= (p.Asp97=)
12g.51916065G>TCA384902120ACVRL1c.808G>T (p.Asp270Tyr)
c.1078G>T (p.Asp360Tyr)
c.556G>T (p.Asp186Tyr)
n.353G>T
c.1120G>T (p.Asp374Tyr)
c.83G>T
c.289G>T (p.Asp97Tyr)
 gnomAD v4
12g.51916066A=CA2036236760ACVRL1c.809A= (p.Asp270=)
c.1079A= (p.Asp360=)
c.557A= (p.Asp186=)
n.354A=
c.1121A= (p.Asp374=)
c.84A=
c.290A= (p.Asp97=)
12g.51916066A>CCA384902125ACVRL1c.809A>C (p.Asp270Ala)
c.1079A>C (p.Asp360Ala)
c.557A>C (p.Asp186Ala)
n.354A>C
c.1121A>C (p.Asp374Ala)
c.84A>C
c.290A>C (p.Asp97Ala)
12g.51916066A>GCA384902127ACVRL1c.809A>G (p.Asp270Gly)
c.1079A>G (p.Asp360Gly)
c.557A>G (p.Asp186Gly)
n.354A>G
c.1121A>G (p.Asp374Gly)
c.84A>G
c.290A>G (p.Asp97Gly)
 dbSNP
12g.51916066A>TCA384902132ACVRL1c.809A>T (p.Asp270Val)
c.1079A>T (p.Asp360Val)
c.557A>T (p.Asp186Val)
n.354A>T
c.1121A>T (p.Asp374Val)
c.84A>T
c.290A>T (p.Asp97Val)
12g.51916067T>ACA384902134ACVRL1c.810T>A (p.Asp270Glu)
c.1080T>A (p.Asp360Glu)
c.558T>A (p.Asp186Glu)
n.355T>A
c.1122T>A (p.Asp374Glu)
c.85T>A
c.291T>A (p.Asp97Glu)
12g.51916067T>CCA479810186ACVRL1c.810T>C (p.Asp270=)
c.1080T>C (p.Asp360=)
c.558T>C (p.Asp186=)
n.355T>C
c.1122T>C (p.Asp374=)
c.85T>C
c.291T>C (p.Asp97=)
 gnomAD v4
12g.51916067T>GCA384902137ACVRL1c.810T>G (p.Asp270Glu)
c.1080T>G (p.Asp360Glu)
c.558T>G (p.Asp186Glu)
n.355T>G
c.1122T>G (p.Asp374Glu)
c.85T>G
c.291T>G (p.Asp97Glu)
12g.51916068T>ACA384902139ACVRL1c.811T>A (p.Tyr271Asn)
c.1081T>A (p.Tyr361Asn)
c.559T>A (p.Tyr187Asn)
n.356T>A
c.1123T>A (p.Tyr375Asn)
c.86T>A
c.292T>A (p.Tyr98Asn)
12g.51916068T>CCA384902142ACVRL1c.811T>C (p.Tyr271His)
c.1081T>C (p.Tyr361His)
c.559T>C (p.Tyr187His)
n.356T>C
c.1123T>C (p.Tyr375His)
c.86T>C
c.292T>C (p.Tyr98His)
12g.51916068T>GCA384902143ACVRL1c.811T>G (p.Tyr271Asp)
c.1081T>G (p.Tyr361Asp)
c.559T>G (p.Tyr187Asp)
n.356T>G
c.1123T>G (p.Tyr375Asp)
c.86T>G
c.292T>G (p.Tyr98Asp)
 dbSNP gnomAD v2 gnomAD v4
12g.51916068T=CA2036236762ACVRL1c.811T= (p.Tyr271=)
c.1081T= (p.Tyr361=)
c.559T= (p.Tyr187=)
n.356T=
c.1123T= (p.Tyr375=)
c.86T=
c.292T= (p.Tyr98=)
12g.51916069A>CCA384902146ACVRL1c.812A>C (p.Tyr271Ser)
c.1082A>C (p.Tyr361Ser)
c.560A>C (p.Tyr187Ser)
n.357A>C
c.1124A>C (p.Tyr375Ser)
c.87A>C
c.293A>C (p.Tyr98Ser)
12g.51916069A>GCA384902147ACVRL1c.812A>G (p.Tyr271Cys)
c.1082A>G (p.Tyr361Cys)
c.560A>G (p.Tyr187Cys)
n.357A>G
c.1124A>G (p.Tyr375Cys)
c.87A>G
c.293A>G (p.Tyr98Cys)
12g.51916069A>TCA384902154ACVRL1c.812A>T (p.Tyr271Phe)
c.1082A>T (p.Tyr361Phe)
c.560A>T (p.Tyr187Phe)
n.357A>T
c.1124A>T (p.Tyr375Phe)
c.87A>T
c.293A>T (p.Tyr98Phe)
12g.51916070C>ACA6573062ACVRL1c.813C>A (p.Tyr271Ter)
c.1083C>A (p.Tyr361Ter)
c.561C>A (p.Tyr187Ter)
n.358C>A
c.1125C>A (p.Tyr375Ter)
c.88C>A
c.294C>A (p.Tyr98Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51916070C=CA2036236764ACVRL1c.813C= (p.Tyr271=)
c.1083C= (p.Tyr361=)
c.561C= (p.Tyr187=)
n.358C=
c.1125C= (p.Tyr375=)
c.88C=
c.294C= (p.Tyr98=)
12g.51916070C>GCA384902159ACVRL1c.813C>G (p.Tyr271Ter)
c.1083C>G (p.Tyr361Ter)
c.561C>G (p.Tyr187Ter)
n.358C>G
c.1125C>G (p.Tyr375Ter)
c.88C>G
c.294C>G (p.Tyr98Ter)
12g.51916070C>TCA479810229ACVRL1c.813C>T (p.Tyr271=)
c.1083C>T (p.Tyr361=)
c.561C>T (p.Tyr187=)
n.358C>T
c.1125C>T (p.Tyr375=)
c.88C>T
c.294C>T (p.Tyr98=)
 COSMIC COSMIC
12g.51916071C>ACA384902168ACVRL1c.814C>A (p.Leu272Met)
c.1084C>A (p.Leu362Met)
c.562C>A (p.Leu188Met)
n.359C>A
c.1126C>A (p.Leu376Met)
c.89C>A
c.295C>A (p.Leu99Met)
12g.51916071C=CA2036236770ACVRL1c.814C= (p.Leu272=)
c.1084C= (p.Leu362=)
c.562C= (p.Leu188=)
n.359C=
c.1126C= (p.Leu376=)
c.89C=
c.295C= (p.Leu99=)
12g.51916071C>GCA384902162ACVRL1c.814C>G (p.Leu272Val)
c.1084C>G (p.Leu362Val)
c.562C>G (p.Leu188Val)
n.359C>G
c.1126C>G (p.Leu376Val)
c.89C>G
c.295C>G (p.Leu99Val)
 COSMIC COSMIC
12g.51916071C>TCA6573063ACVRL1c.814C>T (p.Leu272=)
c.1084C>T (p.Leu362=)
c.562C>T (p.Leu188=)
n.359C>T
c.1126C>T (p.Leu376=)
c.89C>T
c.295C>T (p.Leu99=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916072T>ACA384902175ACVRL1c.815T>A (p.Leu272Gln)
c.1085T>A (p.Leu362Gln)
c.563T>A (p.Leu188Gln)
n.360T>A
c.1127T>A (p.Leu376Gln)
c.90T>A
c.296T>A (p.Leu99Gln)
12g.51916072T>CCA384902169ACVRL1c.815T>C (p.Leu272Pro)
c.1085T>C (p.Leu362Pro)
c.563T>C (p.Leu188Pro)
n.360T>C
c.1127T>C (p.Leu376Pro)
c.90T>C
c.296T>C (p.Leu99Pro)
12g.51916072T>GCA384902179ACVRL1c.815T>G (p.Leu272Arg)
c.1085T>G (p.Leu362Arg)
c.563T>G (p.Leu188Arg)
n.360T>G
c.1127T>G (p.Leu376Arg)
c.90T>G
c.296T>G (p.Leu99Arg)
12g.51916073G>ACA479810240ACVRL1c.816G>A (p.Leu272=)
c.1086G>A (p.Leu362=)
c.564G>A (p.Leu188=)
n.361G>A
c.1128G>A (p.Leu376=)
c.91G>A
c.297G>A (p.Leu99=)
12g.51916073G>CCA479810244ACVRL1c.816G>C (p.Leu272=)
c.1086G>C (p.Leu362=)
c.564G>C (p.Leu188=)
n.361G>C
c.1128G>C (p.Leu376=)
c.91G>C
c.297G>C (p.Leu99=)
12g.51916073G>TCA479810246ACVRL1c.816G>T (p.Leu272=)
c.1086G>T (p.Leu362=)
c.564G>T (p.Leu188=)
n.361G>T
c.1128G>T (p.Leu376=)
c.91G>T
c.297G>T (p.Leu99=)
12g.51916074G>ACA384902182ACVRL1c.817G>A (p.Asp273Asn)
c.1087G>A (p.Asp363Asn)
c.565G>A (p.Asp189Asn)
n.362G>A
c.1129G>A (p.Asp377Asn)
c.92G>A
c.298G>A (p.Asp100Asn)
12g.51916074G>CCA384902184ACVRL1c.817G>C (p.Asp273His)
c.1087G>C (p.Asp363His)
c.565G>C (p.Asp189His)
n.362G>C
c.1129G>C (p.Asp377His)
c.92G>C
c.298G>C (p.Asp100His)
 dbSNP
12g.51916074G>TCA384902186ACVRL1c.817G>T (p.Asp273Tyr)
c.1087G>T (p.Asp363Tyr)
c.565G>T (p.Asp189Tyr)
n.362G>T
c.1129G>T (p.Asp377Tyr)
c.92G>T
c.298G>T (p.Asp100Tyr)
12g.51916075A>CCA384902189ACVRL1c.818A>C (p.Asp273Ala)
c.1088A>C (p.Asp363Ala)
c.566A>C (p.Asp189Ala)
n.363A>C
c.1130A>C (p.Asp377Ala)
c.93A>C
c.299A>C (p.Asp100Ala)
12g.51916075A>GCA384902195ACVRL1c.818A>G (p.Asp273Gly)
c.1088A>G (p.Asp363Gly)
c.566A>G (p.Asp189Gly)
n.363A>G
c.1130A>G (p.Asp377Gly)
c.93A>G
c.299A>G (p.Asp100Gly)
12g.51916075A>TCA384902198ACVRL1c.818A>T (p.Asp273Val)
c.1088A>T (p.Asp363Val)
c.566A>T (p.Asp189Val)
n.363A>T
c.1130A>T (p.Asp377Val)
c.93A>T
c.299A>T (p.Asp100Val)
12g.51916076C>ACA384902201ACVRL1c.819C>A (p.Asp273Glu)
c.1089C>A (p.Asp363Glu)
c.567C>A (p.Asp189Glu)
n.364C>A
c.1131C>A (p.Asp377Glu)
c.94C>A
c.300C>A (p.Asp100Glu)
 gnomAD v4
12g.51916076C=CA2036236779ACVRL1c.819C= (p.Asp273=)
c.1089C= (p.Asp363=)
c.567C= (p.Asp189=)
n.364C=
c.1131C= (p.Asp377=)
c.94C=
c.300C= (p.Asp100=)
12g.51916076C>GCA384902202ACVRL1c.819C>G (p.Asp273Glu)
c.1089C>G (p.Asp363Glu)
c.567C>G (p.Asp189Glu)
n.364C>G
c.1131C>G (p.Asp377Glu)
c.94C>G
c.300C>G (p.Asp100Glu)
12g.51916076C>TCA479810266ACVRL1c.819C>T (p.Asp273=)
c.1089C>T (p.Asp363=)
c.567C>T (p.Asp189=)
n.364C>T
c.1131C>T (p.Asp377=)
c.94C>T
c.300C>T (p.Asp100=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51916077A=CA2036236784ACVRL1c.820A= (p.Ile274=)
c.1090A= (p.Ile364=)
c.568A= (p.Ile190=)
n.365A=
c.1132A= (p.Ile378=)
c.95A=
c.301A= (p.Ile101=)
12g.51916077A>CCA384902203ACVRL1c.820A>C (p.Ile274Leu)
c.1090A>C (p.Ile364Leu)
c.568A>C (p.Ile190Leu)
n.365A>C
c.1132A>C (p.Ile378Leu)
c.95A>C
c.301A>C (p.Ile101Leu)
12g.51916077A>GCA6573064ACVRL1c.820A>G (p.Ile274Val)
c.1090A>G (p.Ile364Val)
c.568A>G (p.Ile190Val)
n.365A>G
c.1132A>G (p.Ile378Val)
c.95A>G
c.301A>G (p.Ile101Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916077A>TCA384902204ACVRL1c.820A>T (p.Ile274Phe)
c.1090A>T (p.Ile364Phe)
c.568A>T (p.Ile190Phe)
n.365A>T
c.1132A>T (p.Ile378Phe)
c.95A>T
c.301A>T (p.Ile101Phe)
12g.51916078T>ACA384902207ACVRL1c.821T>A (p.Ile274Asn)
c.1091T>A (p.Ile364Asn)
c.569T>A (p.Ile190Asn)
n.366T>A
c.1133T>A (p.Ile378Asn)
c.96T>A
c.302T>A (p.Ile101Asn)
12g.51916078T>CCA384902211ACVRL1c.821T>C (p.Ile274Thr)
c.1091T>C (p.Ile364Thr)
c.569T>C (p.Ile190Thr)
n.366T>C
c.1133T>C (p.Ile378Thr)
c.96T>C
c.302T>C (p.Ile101Thr)
 gnomAD v4
12g.51916078T>GCA384902212ACVRL1c.821T>G (p.Ile274Ser)
c.1091T>G (p.Ile364Ser)
c.569T>G (p.Ile190Ser)
n.366T>G
c.1133T>G (p.Ile378Ser)
c.96T>G
c.302T>G (p.Ile101Ser)
12g.51916079C>ACA479810313ACVRL1c.822C>A (p.Ile274=)
c.1092C>A (p.Ile364=)
c.570C>A (p.Ile190=)
n.367C>A
c.1134C>A (p.Ile378=)
c.97C>A
c.303C>A (p.Ile101=)
 gnomAD v4
12g.51916079C=CA2036236787ACVRL1c.822C= (p.Ile274=)
c.1092C= (p.Ile364=)
c.570C= (p.Ile190=)
n.367C=
c.1134C= (p.Ile378=)
c.97C=
c.303C= (p.Ile101=)
12g.51916079C>GCA384902214ACVRL1c.822C>G (p.Ile274Met)
c.1092C>G (p.Ile364Met)
c.570C>G (p.Ile190Met)
n.367C>G
c.1134C>G (p.Ile378Met)
c.97C>G
c.303C>G (p.Ile101Met)
12g.51916079C>TCA6573065ACVRL1c.822C>T (p.Ile274=)
c.1092C>T (p.Ile364=)
c.570C>T (p.Ile190=)
n.367C>T
c.1134C>T (p.Ile378=)
c.97C>T
c.303C>T (p.Ile101=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.51916080G>ACA6573066ACVRL1c.823G>A (p.Gly275Ser)
c.1093G>A (p.Gly365Ser)
c.571G>A (p.Gly191Ser)
n.368G>A
c.1135G>A (p.Gly379Ser)
c.98G>A
c.304G>A (p.Gly102Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51916080G>CCA384902221ACVRL1c.823G>C (p.Gly275Arg)
c.1093G>C (p.Gly365Arg)
c.571G>C (p.Gly191Arg)
n.368G>C
c.1135G>C (p.Gly379Arg)
c.98G>C
c.304G>C (p.Gly102Arg)
12g.51916080G=CA2036236795ACVRL1c.823G= (p.Gly275=)
c.1093G= (p.Gly365=)
c.571G= (p.Gly191=)
n.368G=
c.1135G= (p.Gly379=)
c.98G=
c.304G= (p.Gly102=)
12g.51916080G>TCA384902228ACVRL1c.823G>T (p.Gly275Cys)
c.1093G>T (p.Gly365Cys)
c.571G>T (p.Gly191Cys)
n.368G>T
c.1135G>T (p.Gly379Cys)
c.98G>T
c.304G>T (p.Gly102Cys)
12g.51916081G>ACA236364855ACVRL1c.824G>A (p.Gly275Asp)
c.1094G>A (p.Gly365Asp)
c.572G>A (p.Gly191Asp)
n.369G>A
c.1136G>A (p.Gly379Asp)
c.99G>A
c.305G>A (p.Gly102Asp)
 dbSNP gnomAD v4
12g.51916081G>CCA384902231ACVRL1c.824G>C (p.Gly275Ala)
c.1094G>C (p.Gly365Ala)
c.572G>C (p.Gly191Ala)
n.369G>C
c.1136G>C (p.Gly379Ala)
c.99G>C
c.305G>C (p.Gly102Ala)
12g.51916081G=CA2036236800ACVRL1c.824G= (p.Gly275=)
c.1094G= (p.Gly365=)
c.572G= (p.Gly191=)
n.369G=
c.1136G= (p.Gly379=)
c.99G=
c.305G= (p.Gly102=)
12g.51916081G>TCA384902233ACVRL1c.824G>T (p.Gly275Val)
c.1094G>T (p.Gly365Val)
c.572G>T (p.Gly191Val)
n.369G>T
c.1136G>T (p.Gly379Val)
c.99G>T
c.305G>T (p.Gly102Val)
12g.51916082C>ACA479810327ACVRL1c.825C>A (p.Gly275=)
c.1095C>A (p.Gly365=)
c.573C>A (p.Gly191=)
n.370C>A
c.1137C>A (p.Gly379=)
c.100C>A
c.306C>A (p.Gly102=)
 dbSNP
12g.51916082C=CA2036236802ACVRL1c.825C= (p.Gly275=)
c.1095C= (p.Gly365=)
c.573C= (p.Gly191=)
n.370C=
c.1137C= (p.Gly379=)
c.100C=
c.306C= (p.Gly102=)
12g.51916082C>GCA479810328ACVRL1c.825C>G (p.Gly275=)
c.1095C>G (p.Gly365=)
c.573C>G (p.Gly191=)
n.370C>G
c.1137C>G (p.Gly379=)
c.100C>G
c.306C>G (p.Gly102=)
12g.51916082C>TCA6573067ACVRL1c.825C>T (p.Gly275=)
c.1095C>T (p.Gly365=)
c.573C>T (p.Gly191=)
n.370C>T
c.1137C>T (p.Gly379=)
c.100C>T
c.306C>T (p.Gly102=)
 ClinVar dbSNP ExAC gnomAD v2
12g.51916086_51916088delCA2795983149ACVRL1c.829_831del (p.Asn277del)
c.1099_1101del (p.Asn367del)
c.577_579del (p.Asn193del)
n.374_376del
c.1141_1143del (p.Asn381del)
c.104_106del
c.310_312del (p.Asn104del)
12g.51916083A>CCA384902240ACVRL1c.826A>C (p.Asn276His)
c.1096A>C (p.Asn366His)
c.574A>C (p.Asn192His)
n.371A>C
c.1138A>C (p.Asn380His)
c.101A>C
c.307A>C (p.Asn103His)
12g.51916083A>GCA384902242ACVRL1c.826A>G (p.Asn276Asp)
c.1096A>G (p.Asn366Asp)
c.574A>G (p.Asn192Asp)
n.371A>G
c.1138A>G (p.Asn380Asp)
c.101A>G
c.307A>G (p.Asn103Asp)
12g.51916083A>TCA384902244ACVRL1c.826A>T (p.Asn276Tyr)
c.1096A>T (p.Asn366Tyr)
c.574A>T (p.Asn192Tyr)
n.371A>T
c.1138A>T (p.Asn380Tyr)
c.101A>T
c.307A>T (p.Asn103Tyr)
12g.51916084A>CCA384902246ACVRL1c.827A>C (p.Asn276Thr)
c.1097A>C (p.Asn366Thr)
c.575A>C (p.Asn192Thr)
n.372A>C
c.1139A>C (p.Asn380Thr)
c.102A>C
c.308A>C (p.Asn103Thr)
12g.51916084A>GCA384902247ACVRL1c.827A>G (p.Asn276Ser)
c.1097A>G (p.Asn366Ser)
c.575A>G (p.Asn192Ser)
n.372A>G
c.1139A>G (p.Asn380Ser)
c.102A>G
c.308A>G (p.Asn103Ser)
12g.51916084A>TCA384902248ACVRL1c.827A>T (p.Asn276Ile)
c.1097A>T (p.Asn366Ile)
c.575A>T (p.Asn192Ile)
n.372A>T
c.1139A>T (p.Asn380Ile)
c.102A>T
c.308A>T (p.Asn103Ile)
12g.51916085C>ACA384902249ACVRL1c.828C>A (p.Asn276Lys)
c.1098C>A (p.Asn366Lys)
c.576C>A (p.Asn192Lys)
n.373C>A
c.1140C>A (p.Asn380Lys)
c.103C>A
c.309C>A (p.Asn103Lys)
 gnomAD v4
12g.51916085C=CA2036236806ACVRL1c.828C= (p.Asn276=)
c.1098C= (p.Asn366=)
c.576C= (p.Asn192=)
n.373C=
c.1140C= (p.Asn380=)
c.103C=
c.309C= (p.Asn103=)
12g.51916085C>GCA384902252ACVRL1c.828C>G (p.Asn276Lys)
c.1098C>G (p.Asn366Lys)
c.576C>G (p.Asn192Lys)
n.373C>G
c.1140C>G (p.Asn380Lys)
c.103C>G
c.309C>G (p.Asn103Lys)
12g.51916085C>TCA6573068ACVRL1c.828C>T (p.Asn276=)
c.1098C>T (p.Asn366=)
c.576C>T (p.Asn192=)
n.373C>T
c.1140C>T (p.Asn380=)
c.103C>T
c.309C>T (p.Asn103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916086A>CCA384902254ACVRL1c.829A>C (p.Asn277His)
c.1099A>C (p.Asn367His)
c.577A>C (p.Asn193His)
n.374A>C
c.1141A>C (p.Asn381His)
c.104A>C
c.310A>C (p.Asn104His)
12g.51916086A>GCA384902256ACVRL1c.829A>G (p.Asn277Asp)
c.1099A>G (p.Asn367Asp)
c.577A>G (p.Asn193Asp)
n.374A>G
c.1141A>G (p.Asn381Asp)
c.104A>G
c.310A>G (p.Asn104Asp)
12g.51916086A>TCA384902263ACVRL1c.829A>T (p.Asn277Tyr)
c.1099A>T (p.Asn367Tyr)
c.577A>T (p.Asn193Tyr)
n.374A>T
c.1141A>T (p.Asn381Tyr)
c.104A>T
c.310A>T (p.Asn104Tyr)
12g.51916087A>CCA384902265ACVRL1c.830A>C (p.Asn277Thr)
c.1100A>C (p.Asn367Thr)
c.578A>C (p.Asn193Thr)
n.375A>C
c.1142A>C (p.Asn381Thr)
c.105A>C
c.311A>C (p.Asn104Thr)
12g.51916087A>GCA384902268ACVRL1c.830A>G (p.Asn277Ser)
c.1100A>G (p.Asn367Ser)
c.578A>G (p.Asn193Ser)
n.375A>G
c.1142A>G (p.Asn381Ser)
c.105A>G
c.311A>G (p.Asn104Ser)
12g.51916087A>TCA384902274ACVRL1c.830A>T (p.Asn277Ile)
c.1100A>T (p.Asn367Ile)
c.578A>T (p.Asn193Ile)
n.375A>T
c.1142A>T (p.Asn381Ile)
c.105A>T
c.311A>T (p.Asn104Ile)
12g.51916088C>ACA384902276ACVRL1c.831C>A (p.Asn277Lys)
c.1101C>A (p.Asn367Lys)
c.579C>A (p.Asn193Lys)
n.376C>A
c.1143C>A (p.Asn381Lys)
c.106C>A
c.312C>A (p.Asn104Lys)
12g.51916088C>GCA384902278ACVRL1c.831C>G (p.Asn277Lys)
c.1101C>G (p.Asn367Lys)
c.579C>G (p.Asn193Lys)
n.376C>G
c.1143C>G (p.Asn381Lys)
c.106C>G
c.312C>G (p.Asn104Lys)
 COSMIC COSMIC
12g.51916088C>TCA479810373ACVRL1c.831C>T (p.Asn277=)
c.1101C>T (p.Asn367=)
c.579C>T (p.Asn193=)
n.376C>T
c.1143C>T (p.Asn381=)
c.106C>T
c.312C>T (p.Asn104=)
12g.51916089C>ACA384902279ACVRL1c.832C>A (p.Pro278Thr)
c.1102C>A (p.Pro368Thr)
c.580C>A (p.Pro194Thr)
n.377C>A
c.1144C>A (p.Pro382Thr)
c.107C>A
c.313C>A (p.Pro105Thr)
12g.51916089C=CA2036236812ACVRL1c.832C= (p.Pro278=)
c.1102C= (p.Pro368=)
c.580C= (p.Pro194=)
n.377C=
c.1144C= (p.Pro382=)
c.107C=
c.313C= (p.Pro105=)
12g.51916089C>GCA384902280ACVRL1c.832C>G (p.Pro278Ala)
c.1102C>G (p.Pro368Ala)
c.580C>G (p.Pro194Ala)
n.377C>G
c.1144C>G (p.Pro382Ala)
c.107C>G
c.313C>G (p.Pro105Ala)
12g.51916089C>TCA384902285ACVRL1c.832C>T (p.Pro278Ser)
c.1102C>T (p.Pro368Ser)
c.580C>T (p.Pro194Ser)
n.377C>T
c.1144C>T (p.Pro382Ser)
c.107C>T
c.313C>T (p.Pro105Ser)
 dbSNP gnomAD v4
12g.51916090C>ACA384902288ACVRL1c.833C>A (p.Pro278Gln)
c.1103C>A (p.Pro368Gln)
c.581C>A (p.Pro194Gln)
n.378C>A
c.1145C>A (p.Pro382Gln)
c.108C>A
c.314C>A (p.Pro105Gln)
 dbSNP gnomAD v2
12g.51916090C=CA2036236817ACVRL1c.833C= (p.Pro278=)
c.1103C= (p.Pro368=)
c.581C= (p.Pro194=)
n.378C=
c.1145C= (p.Pro382=)
c.108C=
c.314C= (p.Pro105=)
12g.51916090C>GCA384902290ACVRL1c.833C>G (p.Pro278Arg)
c.1103C>G (p.Pro368Arg)
c.581C>G (p.Pro194Arg)
n.378C>G
c.1145C>G (p.Pro382Arg)
c.108C>G
c.314C>G (p.Pro105Arg)
12g.51916090C>TCA6573069ACVRL1c.833C>T (p.Pro278Leu)
c.1103C>T (p.Pro368Leu)
c.581C>T (p.Pro194Leu)
n.378C>T
c.1145C>T (p.Pro382Leu)
c.108C>T
c.314C>T (p.Pro105Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916091G>ACA6573070ACVRL1c.834G>A (p.Pro278=)
c.1104G>A (p.Pro368=)
c.582G>A (p.Pro194=)
n.379G>A
c.1146G>A (p.Pro382=)
c.109G>A
c.315G>A (p.Pro105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51916091G>CCA479810394ACVRL1c.834G>C (p.Pro278=)
c.1104G>C (p.Pro368=)
c.582G>C (p.Pro194=)
n.379G>C
c.1146G>C (p.Pro382=)
c.109G>C
c.315G>C (p.Pro105=)
12g.51916091G=CA2036236824ACVRL1c.834G= (p.Pro278=)
c.1104G= (p.Pro368=)
c.582G= (p.Pro194=)
n.379G=
c.1146G= (p.Pro382=)
c.109G=
c.315G= (p.Pro105=)
12g.51916091G>TCA479810395ACVRL1c.834G>T (p.Pro278=)
c.1104G>T (p.Pro368=)
c.582G>T (p.Pro194=)
n.379G>T
c.1146G>T (p.Pro382=)
c.109G>T
c.315G>T (p.Pro105=)
12g.51916094_51916095delCA2695216672ACVRL1c.837_838del (p.Arg279SerfsTer22)
c.1107_1108del (p.Arg369SerfsTer22)
c.585_586del (p.Arg195SerfsTer22)
n.382_383del
c.1149_1150del (p.Arg383SerfsTer22)
c.112_113del
c.318_319del (p.Arg106SerfsTer22)
12g.51916092A>CCA479810399ACVRL1c.835A>C (p.Arg279=)
c.1105A>C (p.Arg369=)
c.583A>C (p.Arg195=)
n.380A>C
c.1147A>C (p.Arg383=)
c.110A>C
c.316A>C (p.Arg106=)
12g.51916092A>GCA384902294ACVRL1c.835A>G (p.Arg279Gly)
c.1105A>G (p.Arg369Gly)
c.583A>G (p.Arg195Gly)
n.380A>G
c.1147A>G (p.Arg383Gly)
c.110A>G
c.316A>G (p.Arg106Gly)
 COSMIC COSMIC
12g.51916092A>TCA384902297ACVRL1c.835A>T (p.Arg279Ter)
c.1105A>T (p.Arg369Ter)
c.583A>T (p.Arg195Ter)
n.380A>T
c.1147A>T (p.Arg383Ter)
c.110A>T
c.316A>T (p.Arg106Ter)
12g.51916093G>ACA384902311ACVRL1c.836G>A (p.Arg279Lys)
c.1106G>A (p.Arg369Lys)
c.584G>A (p.Arg195Lys)
n.381G>A
c.1148G>A (p.Arg383Lys)
c.111G>A
c.317G>A (p.Arg106Lys)
12g.51916093G>CCA384902313ACVRL1c.836G>C (p.Arg279Thr)
c.1106G>C (p.Arg369Thr)
c.584G>C (p.Arg195Thr)
n.381G>C
c.1148G>C (p.Arg383Thr)
c.111G>C
c.317G>C (p.Arg106Thr)
12g.51916093G>TCA384902315ACVRL1c.836G>T (p.Arg279Ile)
c.1106G>T (p.Arg369Ile)
c.584G>T (p.Arg195Ile)
n.381G>T
c.1148G>T (p.Arg383Ile)
c.111G>T
c.317G>T (p.Arg106Ile)
12g.51916094A>CCA384902317ACVRL1c.837A>C (p.Arg279Ser)
c.1107A>C (p.Arg369Ser)
c.585A>C (p.Arg195Ser)
n.382A>C
c.1149A>C (p.Arg383Ser)
c.112A>C
c.318A>C (p.Arg106Ser)
12g.51916094A>GCA479810414ACVRL1c.837A>G (p.Arg279=)
c.1107A>G (p.Arg369=)
c.585A>G (p.Arg195=)
n.382A>G
c.1149A>G (p.Arg383=)
c.112A>G
c.318A>G (p.Arg106=)
12g.51916094A>TCA384902318ACVRL1c.837A>T (p.Arg279Ser)
c.1107A>T (p.Arg369Ser)
c.585A>T (p.Arg195Ser)
n.382A>T
c.1149A>T (p.Arg383Ser)
c.112A>T
c.318A>T (p.Arg106Ser)

Number of alleles fetched