Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51915984_51916014delinsCTGGATCCCAGGTTTGGGAGAGGGGCAGGAG | CA2036236647 | ACVRL1 | c.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) | |
12 | g.51915987_51916016del | CA2036236650 | ACVRL1 | c.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 |
12 | g.51915994_51916016del | CA2795983138 | ACVRL1 | c.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) | |
12 | g.51916004_51916005del | CA2840059695 | ACVRL1 | c.779-32_779-31del (n.779-32_779-31del) c.1049-32_1049-31del (n.1049-32_1049-31del) c.527-32_527-31del (n.527-32_527-31del) n.292_293del c.1091-32_1091-31del (n.1091-32_1091-31del) c.54-32_54-31del c.260-32_260-31del (n.260-32_260-31del) | |
12 | g.51916005G>A | CA6573053 | ACVRL1 | c.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 |
12 | g.51916005G= | CA2036236674 | ACVRL1 | c.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=) | |
12 | g.51916005G>T | CA2840059697 | ACVRL1 | c.779-31G>T (n.779-31G>T) c.1049-31G>T (n.1049-31G>T) c.527-31G>T (n.527-31G>T) n.293G>T c.1091-31G>T (n.1091-31G>T) c.54-31G>T c.260-31G>T (n.260-31G>T) | |
12 | g.51916006G>A | CA2618859500 | ACVRL1 | c.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 |
12 | g.51916006G>T | CA2618859501 | ACVRL1 | c.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 |
12 | g.51916007G>A | CA2618859503 | ACVRL1 | c.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 |
12 | g.51916007G>T | CA2839276774 | ACVRL1 | c.779-29G>T (n.779-29G>T) c.1049-29G>T (n.1049-29G>T) c.527-29G>T (n.527-29G>T) n.295G>T c.1091-29G>T (n.1091-29G>T) c.54-29G>T c.260-29G>T (n.260-29G>T) | |
12 | g.51916008G>A | CA2618859504 | ACVRL1 | c.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 |
12 | g.51916009C>A | CA2618859505 | ACVRL1 | c.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 |
12 | g.51916010A= | CA2036236676 | ACVRL1 | c.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=) | |
12 | g.51916010A>G | CA6573054 | ACVRL1 | c.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 |
12 | g.51916011G>A | CA2618859507 | ACVRL1 | c.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 |
12 | g.51916012G>C | CA2618859508 | ACVRL1 | c.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 |
12 | g.51916012G>T | CA2839276767 | ACVRL1 | c.779-24G>T (n.779-24G>T) c.1049-24G>T (n.1049-24G>T) c.527-24G>T (n.527-24G>T) n.300G>T c.1091-24G>T (n.1091-24G>T) c.54-24G>T c.260-24G>T (n.260-24G>T) | |
12 | g.51916013A>G | CA2839720831 | ACVRL1 | c.779-23A>G (n.779-23A>G) c.1049-23A>G (n.1049-23A>G) c.527-23A>G (n.527-23A>G) n.301A>G c.1091-23A>G (n.1091-23A>G) c.54-23A>G c.260-23A>G (n.260-23A>G) | |
12 | g.51916014G>A | CA2618859509 | ACVRL1 | c.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 |
12 | g.51916014G>T | CA2618859510 | ACVRL1 | c.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 |
12 | g.51916015T>A | CA2726343311 | ACVRL1 | c.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 |
12 | g.51916016G>A | CA2618859511 | ACVRL1 | c.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 |
12 | g.51916016G>T | CA2618859512 | ACVRL1 | c.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 |
12 | g.51916017A>G | CA2618859513 | ACVRL1 | c.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 |
12 | g.51916018C= | CA2036236682 | ACVRL1 | c.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=) | |
12 | g.51916018C>G | CA689766780 | ACVRL1 | c.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 |
12 | g.51916018C>T | CA2618859514 | ACVRL1 | c.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 |
12 | g.51916019A>G | CA2842769026 | ACVRL1 | c.779-17A>G (n.779-17A>G) c.1049-17A>G (n.1049-17A>G) c.527-17A>G (n.527-17A>G) n.307A>G c.1091-17A>G (n.1091-17A>G) c.54-17A>G c.260-17A>G (n.260-17A>G) | |
12 | g.51916020G>A | CA689766787 | ACVRL1 | c.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 |
12 | g.51916020G= | CA2036236686 | ACVRL1 | c.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=) | |
12 | g.51916020G>T | CA2575161513 | ACVRL1 | c.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) | |
12 | g.51916020_51916024del | CA2795983140 | ACVRL1 | c.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) | |
12 | g.51916021G>A | CA6573056 | ACVRL1 | c.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 |
12 | g.51916021G>C | CA6573055 | ACVRL1 | c.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 |
12 | g.51916021G= | CA2036236691 | ACVRL1 | c.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=) | |
12 | g.51916022C>A | CA2618859517 | ACVRL1 | c.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 |
12 | g.51916022C>T | CA2726343344 | ACVRL1 | c.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 |
12 | g.51916023dup | CA2838864121 | ACVRL1 | c.779-13dup (n.779-13dup) c.1049-13dup (n.1049-13dup) c.527-13dup (n.527-13dup) n.311dup c.1091-13dup (n.1091-13dup) c.54-13dup c.260-13dup (n.260-13dup) | |
12 | g.51916023C>A | CA2839276769 | ACVRL1 | c.779-13C>A (n.779-13C>A) c.1049-13C>A (n.1049-13C>A) c.527-13C>A (n.527-13C>A) n.311C>A c.1091-13C>A (n.1091-13C>A) c.54-13C>A c.260-13C>A (n.260-13C>A) | |
12 | g.51916025C>A | CA6573057 | ACVRL1 | c.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 |
12 | g.51916025C= | CA2036236696 | ACVRL1 | c.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=) | |
12 | g.51916025C>T | CA2618859519 | ACVRL1 | c.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 |
12 | g.51916026A= | CA2036236699 | ACVRL1 | c.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=) | |
12 | g.51916026A>C | CA2036236698 | ACVRL1 | c.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 |
12 | g.51916026A>T | CA2842769027 | ACVRL1 | c.779-10A>T (n.779-10A>T) c.1049-10A>T (n.1049-10A>T) c.527-10A>T (n.527-10A>T) n.314A>T c.1091-10A>T (n.1091-10A>T) c.54-10A>T c.260-10A>T (n.260-10A>T) | |
12 | g.51916027C>A | CA2618859521 | ACVRL1 | c.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 |
12 | g.51916027C>T | CA479809847 | ACVRL1 | c.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 |
12 | g.51916031del | CA2618859522 | ACVRL1 | c.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 |
12 | g.51916028C>A | CA2839720832 | ACVRL1 | c.779-8C>A (n.779-8C>A) c.1049-8C>A (n.1049-8C>A) c.527-8C>A (n.527-8C>A) n.316C>A c.1091-8C>A (n.1091-8C>A) c.54-8C>A c.260-8C>A (n.260-8C>A) | |
12 | g.51916028C>G | CA2842769028 | ACVRL1 | c.779-8C>G (n.779-8C>G) c.1049-8C>G (n.1049-8C>G) c.527-8C>G (n.527-8C>G) n.316C>G c.1091-8C>G (n.1091-8C>G) c.54-8C>G c.260-8C>G (n.260-8C>G) | |
12 | g.51916029C>A | CA2618859523 | ACVRL1 | c.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 |
12 | g.51916029C>G | CA2618859524 | ACVRL1 | c.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 |
12 | g.51916029_51916030insA | CA2795983141 | ACVRL1 | c.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) | |
12 | g.51916030C>A | CA2618859527 | ACVRL1 | c.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 |
12 | g.51916030C= | CA2036236702 | ACVRL1 | c.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=) | |
12 | g.51916030C>T | CA2036236703 | ACVRL1 | c.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 |
12 | g.51916032_51916038del | CA2618859526 | ACVRL1 | c.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 |
12 | g.51916031C>A | CA2726057163 | ACVRL1 | c.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 |
12 | g.51916031C= | CA2036236705 | ACVRL1 | c.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=) | |
12 | g.51916031C>G | CA2618859528 | ACVRL1 | c.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 |
12 | g.51916031C>T | CA6573058 | ACVRL1 | c.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 |
12 | g.51916032A>G | CA2838864118 | ACVRL1 | c.779-4A>G (n.779-4A>G) c.1049-4A>G (n.1049-4A>G) c.527-4A>G (n.527-4A>G) n.320A>G c.1091-4A>G (n.1091-4A>G) c.54-4A>G c.260-4A>G (n.260-4A>G) | |
12 | g.51916032_51916034delinsCC | CA2695216666 | ACVRL1 | c.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) | |
12 | g.51916033C>T | CA2618859530 | ACVRL1 | c.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 |
12 | g.51916034A>C | CA384901947 | ACVRL1 | c.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) | |
12 | g.51916034A>G | CA384901949 | ACVRL1 | c.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) | |
12 | g.51916034A>T | CA384901951 | ACVRL1 | c.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) | |
12 | g.51916035G>A | CA16614167 | ACVRL1 | c.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 |
12 | g.51916035G>C | CA384901952 | ACVRL1 | c.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) | |
12 | g.51916035G= | CA2036236709 | ACVRL1 | c.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=) | |
12 | g.51916035G>T | CA384901953 | ACVRL1 | c.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 |
12 | g.51916036G>A | CA6573059 | ACVRL1 | c.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 |
12 | g.51916036G>C | CA384901957 | ACVRL1 | c.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) | |
12 | g.51916036G= | CA2036236716 | ACVRL1 | c.779G= (p.Gly260=) c.1049G= (p.Gly350=) c.527G= (p.Gly176=) n.324G= c.1091G= (p.Gly364=) c.54G= c.260G= (p.Gly87=) | |
12 | g.51916036G>T | CA384901959 | ACVRL1 | c.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 |
12 | g.51916037C>A | CA479809905 | ACVRL1 | c.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 |
12 | g.51916037C>G | CA479809897 | ACVRL1 | c.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=) | |
12 | g.51916037C>T | CA479809900 | ACVRL1 | c.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=) | |
12 | g.51916038C>A | CA384901962 | ACVRL1 | c.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) | |
12 | g.51916038C>G | CA384901965 | ACVRL1 | c.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) | |
12 | g.51916038C>T | CA479809917 | ACVRL1 | c.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=) | |
12 | g.51916039T>A | CA384901974 | ACVRL1 | c.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) | |
12 | g.51916039T>C | CA384901971 | ACVRL1 | c.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 |
12 | g.51916039T>G | CA384901968 | ACVRL1 | c.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) | |
12 | g.51916040G>A | CA479809935 | ACVRL1 | c.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=) | |
12 | g.51916040G>C | CA479809960 | ACVRL1 | c.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=) | |
12 | g.51916040G>T | CA479809940 | ACVRL1 | c.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=) | |
12 | g.51916041G>A | CA384901975 | ACVRL1 | c.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 |
12 | g.51916041G>C | CA384901977 | ACVRL1 | c.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) | |
12 | g.51916041G>T | CA384901979 | ACVRL1 | c.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) | |
12 | g.51916041_51916042delinsGC | CA2036236719 | ACVRL1 | c.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=) | |
12 | g.51916042del | CA916081670 | ACVRL1 | c.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 |
12 | g.51916042C>A | CA384901981 | ACVRL1 | c.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 |
12 | g.51916042C= | CA2036236725 | ACVRL1 | c.785C= (p.Ala262=) c.1055C= (p.Ala352=) c.533C= (p.Ala178=) n.330C= c.1097C= (p.Ala366=) c.60C= c.266C= (p.Ala89=) | |
12 | g.51916042C>G | CA384901983 | ACVRL1 | c.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) | |
12 | g.51916042C>T | CA384901991 | ACVRL1 | c.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 |
12 | g.51916043T>A | CA479809975 | ACVRL1 | c.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=) | |
12 | g.51916043T>C | CA236364811 | ACVRL1 | c.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 |
12 | g.51916043T>G | CA479809983 | ACVRL1 | c.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=) | |
12 | g.51916043T= | CA2036236727 | ACVRL1 | c.786T= (p.Ala262=) c.1056T= (p.Ala352=) c.534T= (p.Ala178=) n.331T= c.1098T= (p.Ala366=) c.61T= c.267T= (p.Ala89=) | |
12 | g.51916044G>A | CA384902007 | ACVRL1 | c.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 |
12 | g.51916044G>C | CA384902009 | ACVRL1 | c.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) | |
12 | g.51916044G>T | CA384902011 | ACVRL1 | c.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 |
12 | g.51916045T>A | CA384902015 | ACVRL1 | c.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) | |
12 | g.51916045T>C | CA384902016 | ACVRL1 | c.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) | |
12 | g.51916045T>G | CA384902017 | ACVRL1 | c.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) | |
12 | g.51916046G>A | CA479810000 | ACVRL1 | c.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 |
12 | g.51916046G>C | CA479810004 | ACVRL1 | c.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=) | |
12 | g.51916046G>T | CA479810007 | ACVRL1 | c.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=) | |
12 | g.51916049_51916067dup | CA2695216667 | ACVRL1 | c.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?) | |
12 | g.51916047A>C | CA384902019 | ACVRL1 | c.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) | |
12 | g.51916047A>G | CA384902023 | ACVRL1 | c.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) | |
12 | g.51916047A>T | CA384902018 | ACVRL1 | c.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) | |
12 | g.51916048_51916055del | CA2695216669 | ACVRL1 | c.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?) | |
12 | g.51916048T>A | CA384902026 | ACVRL1 | c.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) | |
12 | g.51916048T>C | CA384902031 | ACVRL1 | c.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) | |
12 | g.51916048T>G | CA384902032 | ACVRL1 | c.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 |
12 | g.51916048dup | CA2838864113 | ACVRL1 | c.791dup (p.Met264IlefsTer?) c.1061dup (p.Met354IlefsTer?) c.539dup (p.Met180IlefsTer?) n.336dup c.1103dup (p.Met368IlefsTer?) c.66dup c.272dup (p.Met91IlefsTer?) | |
12 | g.51916049G>A | CA384902035 | ACVRL1 | c.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) | |
12 | g.51916049G>C | CA384902036 | ACVRL1 | c.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) | |
12 | g.51916049G>T | CA384902037 | ACVRL1 | c.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) | |
12 | g.51916050C>A | CA384902041 | ACVRL1 | c.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) | |
12 | g.51916050C= | CA2036236728 | ACVRL1 | c.793C= (p.His265=) c.1063C= (p.His355=) c.541C= (p.His181=) n.338C= c.1105C= (p.His369=) c.68C= c.274C= (p.His92=) | |
12 | g.51916050C>G | CA384902040 | ACVRL1 | c.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) | |
12 | g.51916050C>T | CA384902038 | ACVRL1 | c.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 |
12 | g.51916051A= | CA2036236730 | ACVRL1 | c.794A= (p.His265=) c.1064A= (p.His355=) c.542A= (p.His181=) n.339A= c.1106A= (p.His369=) c.69A= c.275A= (p.His92=) | |
12 | g.51916051A>C | CA6573060 | ACVRL1 | c.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 |
12 | g.51916051A>G | CA384902043 | ACVRL1 | c.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) | |
12 | g.51916051A>T | CA384902046 | ACVRL1 | c.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) | |
12 | g.51916052C>A | CA384902048 | ACVRL1 | c.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) | |
12 | g.51916052C= | CA2036236733 | ACVRL1 | c.795C= (p.His265=) c.1065C= (p.His355=) c.543C= (p.His181=) n.340C= c.1107C= (p.His369=) c.70C= c.276C= (p.His92=) | |
12 | g.51916052C>G | CA384902049 | ACVRL1 | c.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 |
12 | g.51916052C>T | CA236364822 | ACVRL1 | c.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 |
12 | g.51916053T>A | CA384902061 | ACVRL1 | c.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) | |
12 | g.51916053T>C | CA384902066 | ACVRL1 | c.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) | |
12 | g.51916053T>G | CA384902063 | ACVRL1 | c.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) | |
12 | g.51916054C>A | CA384902067 | ACVRL1 | c.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) | |
12 | g.51916054C= | CA2036236736 | ACVRL1 | c.797C= (p.Ser266=) c.1067C= (p.Ser356=) c.545C= (p.Ser182=) n.342C= c.1109C= (p.Ser370=) c.72C= c.278C= (p.Ser93=) | |
12 | g.51916054C>G | CA384902068 | ACVRL1 | c.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) | |
12 | g.51916054C>T | CA384902070 | ACVRL1 | c.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 |
12 | g.51916055A>C | CA479810087 | ACVRL1 | c.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=) | |
12 | g.51916055A>G | CA479810086 | ACVRL1 | c.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 |
12 | g.51916055A>T | CA479810082 | ACVRL1 | c.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=) | |
12 | g.51916056C>A | CA384902077 | ACVRL1 | c.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) | |
12 | g.51916056C>G | CA384902078 | ACVRL1 | c.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) | |
12 | g.51916056C>T | CA384902081 | ACVRL1 | c.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 |
12 | g.51916057A= | CA2036236738 | ACVRL1 | c.800A= (p.Gln267=) c.1070A= (p.Gln357=) c.548A= (p.Gln183=) n.345A= c.1112A= (p.Gln371=) c.75A= c.281A= (p.Gln94=) | |
12 | g.51916057A>C | CA6573061 | ACVRL1 | c.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 |
12 | g.51916057A>G | CA384902084 | ACVRL1 | c.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 |
12 | g.51916057A>T | CA384902085 | ACVRL1 | c.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) | |
12 | g.51916058G>A | CA479810108 | ACVRL1 | c.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 |
12 | g.51916058G>C | CA384902086 | ACVRL1 | c.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) | |
12 | g.51916058G= | CA2036236743 | ACVRL1 | c.801G= (p.Gln267=) c.1071G= (p.Gln357=) c.549G= (p.Gln183=) n.346G= c.1113G= (p.Gln371=) c.76G= c.282G= (p.Gln94=) | |
12 | g.51916058G>T | CA384902089 | ACVRL1 | c.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) | |
12 | g.51916060del | CA2499221749 | ACVRL1 | c.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 |
12 | g.51916059G>A | CA384902092 | ACVRL1 | c.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) | |
12 | g.51916059G>C | CA384902101 | ACVRL1 | c.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) | |
12 | g.51916059G>T | CA384902094 | ACVRL1 | c.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) | |
12 | g.51916060G>A | CA384902104 | ACVRL1 | c.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) | |
12 | g.51916060G>C | CA384902107 | ACVRL1 | c.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) | |
12 | g.51916060G>T | CA384902109 | ACVRL1 | c.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) | |
12 | g.51916061C>A | CA479810144 | ACVRL1 | c.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=) | |
12 | g.51916061C= | CA2036236749 | ACVRL1 | c.804C= (p.Gly268=) c.1074C= (p.Gly358=) c.552C= (p.Gly184=) n.349C= c.1116C= (p.Gly372=) c.79C= c.285C= (p.Gly95=) | |
12 | g.51916061C>G | CA479810137 | ACVRL1 | c.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=) | |
12 | g.51916061C>T | CA479810140 | ACVRL1 | c.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 |
12 | g.51916062A= | CA2036236753 | ACVRL1 | c.805A= (p.Ser269=) c.1075A= (p.Ser359=) c.553A= (p.Ser185=) n.350A= c.1117A= (p.Ser373=) c.80A= c.286A= (p.Ser96=) | |
12 | g.51916062A>C | CA384902110 | ACVRL1 | c.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) | |
12 | g.51916062A>G | CA384902111 | ACVRL1 | c.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 |
12 | g.51916062A>T | CA384902112 | ACVRL1 | c.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) | |
12 | g.51916063G>A | CA384902113 | ACVRL1 | c.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) | |
12 | g.51916063G>C | CA384902114 | ACVRL1 | c.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 |
12 | g.51916063G>T | CA384902115 | ACVRL1 | c.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) | |
12 | g.51916064C>A | CA384902116 | ACVRL1 | c.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) | |
12 | g.51916064C= | CA2036236755 | ACVRL1 | c.807C= (p.Ser269=) c.1077C= (p.Ser359=) c.555C= (p.Ser185=) n.352C= c.1119C= (p.Ser373=) c.82C= c.288C= (p.Ser96=) | |
12 | g.51916064C>G | CA384902117 | ACVRL1 | c.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 |
12 | g.51916064C>T | CA479810164 | ACVRL1 | c.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 |
12 | g.51916065G>A | CA236364836 | ACVRL1 | c.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 |
12 | g.51916065G>C | CA384902122 | ACVRL1 | c.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) | |
12 | g.51916065G= | CA2036236757 | ACVRL1 | c.808G= (p.Asp270=) c.1078G= (p.Asp360=) c.556G= (p.Asp186=) n.353G= c.1120G= (p.Asp374=) c.83G= c.289G= (p.Asp97=) | |
12 | g.51916065G>T | CA384902120 | ACVRL1 | c.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 |
12 | g.51916066A= | CA2036236760 | ACVRL1 | c.809A= (p.Asp270=) c.1079A= (p.Asp360=) c.557A= (p.Asp186=) n.354A= c.1121A= (p.Asp374=) c.84A= c.290A= (p.Asp97=) | |
12 | g.51916066A>C | CA384902125 | ACVRL1 | c.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) | |
12 | g.51916066A>G | CA384902127 | ACVRL1 | c.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 |
12 | g.51916066A>T | CA384902132 | ACVRL1 | c.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) | |
12 | g.51916067T>A | CA384902134 | ACVRL1 | c.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) | |
12 | g.51916067T>C | CA479810186 | ACVRL1 | c.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 |
12 | g.51916067T>G | CA384902137 | ACVRL1 | c.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) | |
12 | g.51916068T>A | CA384902139 | ACVRL1 | c.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) | |
12 | g.51916068T>C | CA384902142 | ACVRL1 | c.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) | |
12 | g.51916068T>G | CA384902143 | ACVRL1 | c.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 |
12 | g.51916068T= | CA2036236762 | ACVRL1 | c.811T= (p.Tyr271=) c.1081T= (p.Tyr361=) c.559T= (p.Tyr187=) n.356T= c.1123T= (p.Tyr375=) c.86T= c.292T= (p.Tyr98=) | |
12 | g.51916069A>C | CA384902146 | ACVRL1 | c.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) | |
12 | g.51916069A>G | CA384902147 | ACVRL1 | c.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) | |
12 | g.51916069A>T | CA384902154 | ACVRL1 | c.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) | |
12 | g.51916070C>A | CA6573062 | ACVRL1 | c.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 |
12 | g.51916070C= | CA2036236764 | ACVRL1 | c.813C= (p.Tyr271=) c.1083C= (p.Tyr361=) c.561C= (p.Tyr187=) n.358C= c.1125C= (p.Tyr375=) c.88C= c.294C= (p.Tyr98=) | |
12 | g.51916070C>G | CA384902159 | ACVRL1 | c.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) | |
12 | g.51916070C>T | CA479810229 | ACVRL1 | c.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 |
12 | g.51916071C>A | CA384902168 | ACVRL1 | c.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) | |
12 | g.51916071C= | CA2036236770 | ACVRL1 | c.814C= (p.Leu272=) c.1084C= (p.Leu362=) c.562C= (p.Leu188=) n.359C= c.1126C= (p.Leu376=) c.89C= c.295C= (p.Leu99=) | |
12 | g.51916071C>G | CA384902162 | ACVRL1 | c.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 |
12 | g.51916071C>T | CA6573063 | ACVRL1 | c.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 |
12 | g.51916072T>A | CA384902175 | ACVRL1 | c.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) | |
12 | g.51916072T>C | CA384902169 | ACVRL1 | c.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) | |
12 | g.51916072T>G | CA384902179 | ACVRL1 | c.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) | |
12 | g.51916073G>A | CA479810240 | ACVRL1 | c.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=) | |
12 | g.51916073G>C | CA479810244 | ACVRL1 | c.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=) | |
12 | g.51916073G>T | CA479810246 | ACVRL1 | c.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=) | |
12 | g.51916074G>A | CA384902182 | ACVRL1 | c.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) | |
12 | g.51916074G>C | CA384902184 | ACVRL1 | c.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 |
12 | g.51916074G>T | CA384902186 | ACVRL1 | c.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) | |
12 | g.51916075A>C | CA384902189 | ACVRL1 | c.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) | |
12 | g.51916075A>G | CA384902195 | ACVRL1 | c.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) | |
12 | g.51916075A>T | CA384902198 | ACVRL1 | c.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) | |
12 | g.51916076C>A | CA384902201 | ACVRL1 | c.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 |
12 | g.51916076C= | CA2036236779 | ACVRL1 | c.819C= (p.Asp273=) c.1089C= (p.Asp363=) c.567C= (p.Asp189=) n.364C= c.1131C= (p.Asp377=) c.94C= c.300C= (p.Asp100=) | |
12 | g.51916076C>G | CA384902202 | ACVRL1 | c.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) | |
12 | g.51916076C>T | CA479810266 | ACVRL1 | c.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 |
12 | g.51916077A= | CA2036236784 | ACVRL1 | c.820A= (p.Ile274=) c.1090A= (p.Ile364=) c.568A= (p.Ile190=) n.365A= c.1132A= (p.Ile378=) c.95A= c.301A= (p.Ile101=) | |
12 | g.51916077A>C | CA384902203 | ACVRL1 | c.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) | |
12 | g.51916077A>G | CA6573064 | ACVRL1 | c.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 |
12 | g.51916077A>T | CA384902204 | ACVRL1 | c.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) | |
12 | g.51916078T>A | CA384902207 | ACVRL1 | c.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) | |
12 | g.51916078T>C | CA384902211 | ACVRL1 | c.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 |
12 | g.51916078T>G | CA384902212 | ACVRL1 | c.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) | |
12 | g.51916078dup | CA2842769029 | ACVRL1 | c.821dup (p.Gly275ArgfsTer27) c.1091dup (p.Gly365ArgfsTer27) c.569dup (p.Gly191ArgfsTer27) n.366dup c.1133dup (p.Gly379ArgfsTer27) c.96dup c.302dup (p.Gly102ArgfsTer27) | |
12 | g.51916079C>A | CA479810313 | ACVRL1 | c.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 |
12 | g.51916079C= | CA2036236787 | ACVRL1 | c.822C= (p.Ile274=) c.1092C= (p.Ile364=) c.570C= (p.Ile190=) n.367C= c.1134C= (p.Ile378=) c.97C= c.303C= (p.Ile101=) | |
12 | g.51916079C>G | CA384902214 | ACVRL1 | c.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) | |
12 | g.51916079C>T | CA6573065 | ACVRL1 | c.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 |
12 | g.51916080G>A | CA6573066 | ACVRL1 | c.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 |
12 | g.51916080G>C | CA384902221 | ACVRL1 | c.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) | |
12 | g.51916080G= | CA2036236795 | ACVRL1 | c.823G= (p.Gly275=) c.1093G= (p.Gly365=) c.571G= (p.Gly191=) n.368G= c.1135G= (p.Gly379=) c.98G= c.304G= (p.Gly102=) | |
12 | g.51916080G>T | CA384902228 | ACVRL1 | c.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) | |
12 | g.51916081G>A | CA236364855 | ACVRL1 | c.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 |
12 | g.51916081G>C | CA384902231 | ACVRL1 | c.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) | |
12 | g.51916081G= | CA2036236800 | ACVRL1 | c.824G= (p.Gly275=) c.1094G= (p.Gly365=) c.572G= (p.Gly191=) n.369G= c.1136G= (p.Gly379=) c.99G= c.305G= (p.Gly102=) | |
12 | g.51916081G>T | CA384902233 | ACVRL1 | c.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) | |
12 | g.51916082C>A | CA479810327 | ACVRL1 | c.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 |
12 | g.51916082C= | CA2036236802 | ACVRL1 | c.825C= (p.Gly275=) c.1095C= (p.Gly365=) c.573C= (p.Gly191=) n.370C= c.1137C= (p.Gly379=) c.100C= c.306C= (p.Gly102=) | |
12 | g.51916082C>G | CA479810328 | ACVRL1 | c.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=) | |
12 | g.51916082C>T | CA6573067 | ACVRL1 | c.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 |
12 | g.51916086_51916088del | CA2795983149 | ACVRL1 | c.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) | |
12 | g.51916083A>C | CA384902240 | ACVRL1 | c.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) | |
12 | g.51916083A>G | CA384902242 | ACVRL1 | c.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) | |
12 | g.51916083A>T | CA384902244 | ACVRL1 | c.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) | |
12 | g.51916084A>C | CA384902246 | ACVRL1 | c.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) | |
12 | g.51916084A>G | CA384902247 | ACVRL1 | c.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) | |
12 | g.51916084A>T | CA384902248 | ACVRL1 | c.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) | |
12 | g.51916085C>A | CA384902249 | ACVRL1 | c.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 |
12 | g.51916085C= | CA2036236806 | ACVRL1 | c.828C= (p.Asn276=) c.1098C= (p.Asn366=) c.576C= (p.Asn192=) n.373C= c.1140C= (p.Asn380=) c.103C= c.309C= (p.Asn103=) | |
12 | g.51916085C>G | CA384902252 | ACVRL1 | c.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) | |
12 | g.51916085C>T | CA6573068 | ACVRL1 | c.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 |
12 | g.51916086A>C | CA384902254 | ACVRL1 | c.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) | |
12 | g.51916086A>G | CA384902256 | ACVRL1 | c.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) | |
12 | g.51916086A>T | CA384902263 | ACVRL1 | c.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) | |
12 | g.51916087A>C | CA384902265 | ACVRL1 | c.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) | |
12 | g.51916087A>G | CA384902268 | ACVRL1 | c.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) | |
12 | g.51916087A>T | CA384902274 | ACVRL1 | c.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) | |
12 | g.51916088C>A | CA384902276 | ACVRL1 | c.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) | |
12 | g.51916088C>G | CA384902278 | ACVRL1 | c.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 |
12 | g.51916088C>T | CA479810373 | ACVRL1 | c.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=) | |
12 | g.51916089C>A | CA384902279 | ACVRL1 | c.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) | |
12 | g.51916089C= | CA2036236812 | ACVRL1 | c.832C= (p.Pro278=) c.1102C= (p.Pro368=) c.580C= (p.Pro194=) n.377C= c.1144C= (p.Pro382=) c.107C= c.313C= (p.Pro105=) | |
12 | g.51916089C>G | CA384902280 | ACVRL1 | c.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) | |
12 | g.51916089C>T | CA384902285 | ACVRL1 | c.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 |
12 | g.51916090C>A | CA384902288 | ACVRL1 | c.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 |
12 | g.51916090C= | CA2036236817 | ACVRL1 | c.833C= (p.Pro278=) c.1103C= (p.Pro368=) c.581C= (p.Pro194=) n.378C= c.1145C= (p.Pro382=) c.108C= c.314C= (p.Pro105=) | |
12 | g.51916090C>G | CA384902290 | ACVRL1 | c.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) | |
12 | g.51916090C>T | CA6573069 | ACVRL1 | c.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 |
12 | g.51916091G>A | CA6573070 | ACVRL1 | c.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 |
12 | g.51916091G>C | CA479810394 | ACVRL1 | c.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=) | |
12 | g.51916091G= | CA2036236824 | ACVRL1 | c.834G= (p.Pro278=) c.1104G= (p.Pro368=) c.582G= (p.Pro194=) n.379G= c.1146G= (p.Pro382=) c.109G= c.315G= (p.Pro105=) | |
12 | g.51916091G>T | CA479810395 | ACVRL1 | c.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=) | |
12 | g.51916094_51916095del | CA2695216672 | ACVRL1 | c.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) | |
12 | g.51916092A>C | CA479810399 | ACVRL1 | c.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=) | |
12 | g.51916092A>G | CA384902294 | ACVRL1 | c.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 |
12 | g.51916092A>T | CA384902297 | ACVRL1 | c.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) | |
12 | g.51916093G>A | CA384902311 | ACVRL1 | c.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) | |
12 | g.51916093G>C | CA384902313 | ACVRL1 | c.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) | |
12 | g.51916093G>T | CA384902315 | ACVRL1 | c.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) | |
12 | g.51916094A>C | CA384902317 | ACVRL1 | c.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) | |
12 | g.51916094A>G | CA479810414 | ACVRL1 | c.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=) | |
12 | g.51916094A>T | CA384902318 | ACVRL1 | c.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) | |
12 | g.51916095G>A | CA384902319 | ACVRL1 | c.838G>A (p.Val280Met) c.1108G>A (p.Val370Met) c.586G>A (p.Val196Met) n.383G>A c.1150G>A (p.Val384Met) c.113G>A c.319G>A (p.Val107Met) | COSMIC COSMIC |
12 | g.51916095G>C | CA384902320 | ACVRL1 | c.838G>C (p.Val280Leu) c.1108G>C (p.Val370Leu) c.586G>C (p.Val196Leu) n.383G>C c.1150G>C (p.Val384Leu) c.113G>C c.319G>C (p.Val107Leu) | |
12 | g.51916095G>T | CA384902321 | ACVRL1 | c.838G>T (p.Val280Leu) c.1108G>T (p.Val370Leu) c.586G>T (p.Val196Leu) n.383G>T c.1150G>T (p.Val384Leu) c.113G>T c.319G>T (p.Val107Leu) | |
12 | g.51916096T>A | CA384902322 | ACVRL1 | c.839T>A (p.Val280Glu) c.1109T>A (p.Val370Glu) c.587T>A (p.Val196Glu) n.384T>A c.1151T>A (p.Val384Glu) c.114T>A c.320T>A (p.Val107Glu) | dbSNP |
12 | g.51916096T>C | CA384902323 | ACVRL1 | c.839T>C (p.Val280Ala) c.1109T>C (p.Val370Ala) c.587T>C (p.Val196Ala) n.384T>C c.1151T>C (p.Val384Ala) c.114T>C c.320T>C (p.Val107Ala) | |
12 | g.51916096T>G | CA384902325 | ACVRL1 | c.839T>G (p.Val280Gly) c.1109T>G (p.Val370Gly) c.587T>G (p.Val196Gly) n.384T>G c.1151T>G (p.Val384Gly) c.114T>G c.320T>G (p.Val107Gly) | dbSNP |
12 | g.51916097G>A | CA479810430 | ACVRL1 | c.840G>A (p.Val280=) c.1110G>A (p.Val370=) c.588G>A (p.Val196=) n.385G>A c.1152G>A (p.Val384=) c.115G>A c.321G>A (p.Val107=) | ClinVar |
12 | g.51916097G>C | CA479810432 | ACVRL1 | c.840G>C (p.Val280=) c.1110G>C (p.Val370=) c.588G>C (p.Val196=) n.385G>C c.1152G>C (p.Val384=) c.115G>C c.321G>C (p.Val107=) | |
12 | g.51916097G>T | CA479810435 | ACVRL1 | c.840G>T (p.Val280=) c.1110G>T (p.Val370=) c.588G>T (p.Val196=) n.385G>T c.1152G>T (p.Val384=) c.115G>T c.321G>T (p.Val107=) | |
12 | g.51916099dup | CA2618859563 | ACVRL1 | c.842dup (p.Thr282HisfsTer20) c.1112dup (p.Thr372HisfsTer20) c.590dup (p.Thr198HisfsTer20) n.387dup c.1154dup (p.Thr386HisfsTer20) c.117dup c.323dup (p.Thr109HisfsTer20) | gnomAD v4 |
12 | g.51916098G>A | CA384902330 | ACVRL1 | c.841G>A (p.Gly281Ser) c.1111G>A (p.Gly371Ser) c.589G>A (p.Gly197Ser) n.386G>A c.1153G>A (p.Gly385Ser) c.116G>A c.322G>A (p.Gly108Ser) | ClinVar |
12 | g.51916098G>C | CA384902336 | ACVRL1 | c.841G>C (p.Gly281Arg) c.1111G>C (p.Gly371Arg) c.589G>C (p.Gly197Arg) n.386G>C c.1153G>C (p.Gly385Arg) c.116G>C c.322G>C (p.Gly108Arg) | |
12 | g.51916098G>T | CA384902334 | ACVRL1 | c.841G>T (p.Gly281Cys) c.1111G>T (p.Gly371Cys) c.589G>T (p.Gly197Cys) n.386G>T c.1153G>T (p.Gly385Cys) c.116G>T c.322G>T (p.Gly108Cys) | ClinVar dbSNP |
12 | g.51916099G>A | CA384902343 | ACVRL1 | c.842G>A (p.Gly281Asp) c.1112G>A (p.Gly371Asp) c.590G>A (p.Gly197Asp) n.387G>A c.1154G>A (p.Gly385Asp) c.117G>A c.323G>A (p.Gly108Asp) | dbSNP |
12 | g.51916099G>C | CA384902347 | ACVRL1 | c.842G>C (p.Gly281Ala) c.1112G>C (p.Gly371Ala) c.590G>C (p.Gly197Ala) n.387G>C c.1154G>C (p.Gly385Ala) c.117G>C c.323G>C (p.Gly108Ala) | ClinVar dbSNP |
12 | g.51916099G= | CA2036236835 | ACVRL1 | c.842G= (p.Gly281=) c.1112G= (p.Gly371=) c.590G= (p.Gly197=) n.387G= c.1154G= (p.Gly385=) c.117G= c.323G= (p.Gly108=) | |
12 | g.51916099G>T | CA384902346 | ACVRL1 | c.842G>T (p.Gly281Val) c.1112G>T (p.Gly371Val) c.590G>T (p.Gly197Val) n.387G>T c.1154G>T (p.Gly385Val) c.117G>T c.323G>T (p.Gly108Val) | |
12 | g.51916100C>A | CA479810455 | ACVRL1 | c.843C>A (p.Gly281=) c.1113C>A (p.Gly371=) c.591C>A (p.Gly197=) n.388C>A c.1155C>A (p.Gly385=) c.118C>A c.324C>A (p.Gly108=) | |
12 | g.51916100C= | CA2036236837 | ACVRL1 | c.843C= (p.Gly281=) c.1113C= (p.Gly371=) c.591C= (p.Gly197=) n.388C= c.1155C= (p.Gly385=) c.118C= c.324C= (p.Gly108=) | |
12 | g.51916100C>G | CA479810460 | ACVRL1 | c.843C>G (p.Gly281=) c.1113C>G (p.Gly371=) c.591C>G (p.Gly197=) n.388C>G c.1155C>G (p.Gly385=) c.118C>G c.324C>G (p.Gly108=) | |
12 | g.51916100C>T | CA479810463 | ACVRL1 | c.843C>T (p.Gly281=) c.1113C>T (p.Gly371=) c.591C>T (p.Gly197=) n.388C>T c.1155C>T (p.Gly385=) c.118C>T c.324C>T (p.Gly108=) | dbSNP |
12 | g.51916100_51916101insG | CA119412 | ACVRL1 | c.843_844insG (p.Thr282AspfsTer20) c.1113_1114insG (p.Thr372AspfsTer20) c.591_592insG (p.Thr198AspfsTer20) n.388_389insG c.1155_1156insG (p.Thr386AspfsTer20) c.118_119insG c.324_325insG (p.Thr109AspfsTer20) | ClinVar dbSNP |
12 | g.51916101A>C | CA384902350 | ACVRL1 | c.844A>C (p.Thr282Pro) c.1114A>C (p.Thr372Pro) c.592A>C (p.Thr198Pro) n.389A>C c.1156A>C (p.Thr386Pro) c.119A>C c.325A>C (p.Thr109Pro) | COSMIC COSMIC |
12 | g.51916101A>G | CA384902355 | ACVRL1 | c.844A>G (p.Thr282Ala) c.1114A>G (p.Thr372Ala) c.592A>G (p.Thr198Ala) n.389A>G c.1156A>G (p.Thr386Ala) c.119A>G c.325A>G (p.Thr109Ala) | |
12 | g.51916101A>T | CA384902358 | ACVRL1 | c.844A>T (p.Thr282Ser) c.1114A>T (p.Thr372Ser) c.592A>T (p.Thr198Ser) n.389A>T c.1156A>T (p.Thr386Ser) c.119A>T c.325A>T (p.Thr109Ser) | |
12 | g.51916102C>A | CA384902362 | ACVRL1 | c.845C>A (p.Thr282Asn) c.1115C>A (p.Thr372Asn) c.593C>A (p.Thr198Asn) n.390C>A c.1157C>A (p.Thr386Asn) c.120C>A c.326C>A (p.Thr109Asn) | |
12 | g.51916102C= | CA2036236851 | ACVRL1 | c.845C= (p.Thr282=) c.1115C= (p.Thr372=) c.593C= (p.Thr198=) n.390C= c.1157C= (p.Thr386=) c.120C= c.326C= (p.Thr109=) | |
12 | g.51916102C>G | CA384902365 | ACVRL1 | c.845C>G (p.Thr282Ser) c.1115C>G (p.Thr372Ser) c.593C>G (p.Thr198Ser) n.390C>G c.1157C>G (p.Thr386Ser) c.120C>G c.326C>G (p.Thr109Ser) | |
12 | g.51916102C>T | CA384902371 | ACVRL1 | c.845C>T (p.Thr282Ile) c.1115C>T (p.Thr372Ile) c.593C>T (p.Thr198Ile) n.390C>T c.1157C>T (p.Thr386Ile) c.120C>T c.326C>T (p.Thr109Ile) | ClinVar dbSNP |
12 | g.51916103C>A | CA479810479 | ACVRL1 | c.846C>A (p.Thr282=) c.1116C>A (p.Thr372=) c.594C>A (p.Thr198=) n.391C>A c.1158C>A (p.Thr386=) c.121C>A c.327C>A (p.Thr109=) | |
12 | g.51916103C= | CA2036236855 | ACVRL1 | c.846C= (p.Thr282=) c.1116C= (p.Thr372=) c.594C= (p.Thr198=) n.391C= c.1158C= (p.Thr386=) c.121C= c.327C= (p.Thr109=) | |
12 | g.51916103C>G | CA479810482 | ACVRL1 | c.846C>G (p.Thr282=) c.1116C>G (p.Thr372=) c.594C>G (p.Thr198=) n.391C>G c.1158C>G (p.Thr386=) c.121C>G c.327C>G (p.Thr109=) | |
12 | g.51916103C>T | CA479810485 | ACVRL1 | c.846C>T (p.Thr282=) c.1116C>T (p.Thr372=) c.594C>T (p.Thr198=) n.391C>T c.1158C>T (p.Thr386=) c.121C>T c.327C>T (p.Thr109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916104A>C | CA384902374 | ACVRL1 | c.847A>C (p.Lys283Gln) c.1117A>C (p.Lys373Gln) c.595A>C (p.Lys199Gln) n.392A>C c.1159A>C (p.Lys387Gln) c.122A>C c.328A>C (p.Lys110Gln) | |
12 | g.51916104A>G | CA384902376 | ACVRL1 | c.847A>G (p.Lys283Glu) c.1117A>G (p.Lys373Glu) c.595A>G (p.Lys199Glu) n.392A>G c.1159A>G (p.Lys387Glu) c.122A>G c.328A>G (p.Lys110Glu) | |
12 | g.51916104A>T | CA384902382 | ACVRL1 | c.847A>T (p.Lys283Ter) c.1117A>T (p.Lys373Ter) c.595A>T (p.Lys199Ter) n.392A>T c.1159A>T (p.Lys387Ter) c.122A>T c.328A>T (p.Lys110Ter) | |
12 | g.51916105del | CA2695216673 | ACVRL1 | c.848del (p.Lys283SerfsTer?) c.1118del (p.Lys373SerfsTer?) c.596del (p.Lys199SerfsTer?) n.393del c.1160del (p.Lys387SerfsTer?) c.123del c.329del (p.Lys110SerfsTer?) | |
12 | g.51916105A= | CA2036236862 | ACVRL1 | c.848A= (p.Lys283=) c.1118A= (p.Lys373=) c.596A= (p.Lys199=) n.393A= c.1160A= (p.Lys387=) c.123A= c.329A= (p.Lys110=) | |
12 | g.51916105A>C | CA384902384 | ACVRL1 | c.848A>C (p.Lys283Thr) c.1118A>C (p.Lys373Thr) c.596A>C (p.Lys199Thr) n.393A>C c.1160A>C (p.Lys387Thr) c.123A>C c.329A>C (p.Lys110Thr) | |
12 | g.51916105A>G | CA384902385 | ACVRL1 | c.848A>G (p.Lys283Arg) c.1118A>G (p.Lys373Arg) c.596A>G (p.Lys199Arg) n.393A>G c.1160A>G (p.Lys387Arg) c.123A>G c.329A>G (p.Lys110Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51916105A>T | CA384902388 | ACVRL1 | c.848A>T (p.Lys283Met) c.1118A>T (p.Lys373Met) c.596A>T (p.Lys199Met) n.393A>T c.1160A>T (p.Lys387Met) c.123A>T c.329A>T (p.Lys110Met) | |
12 | g.51916107_51916124del | CA2695216674 | ACVRL1 | c.850_867del (p.Arg284_Glu289del) c.1120_1137del (p.Arg374_Glu379del) c.598_615del (p.Arg200_Glu205del) n.395_412del c.1162_1179del (p.Arg388_Glu393del) c.125_142del c.331_348del (p.Arg111_Glu116del) |