NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001114753.3(ENG):c.1510G>A (p.Val504Met)
|
rs116330805
|
0.00311
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu)
|
rs139398993
|
0.00077
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala)
|
rs146206499
|
0.00031
|
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)
|
rs149664056
|
0.00031
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00009
|
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr)
|
rs368533266
|
0.00005
|
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys)
|
rs764262721
|
0.00005
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
|
|
|
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)
|
rs1060503235
|
|
NM_000020.3(ACVRL1):c.1377+4A>T
|
rs1940909579
|
|
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)
|
rs1085307429
|
|
NM_000020.3(ACVRL1):c.442_444del (p.Glu148del)
|
|
|
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
|
|
|
NM_000020.3(ACVRL1):c.620del (p.Cys207fs)
|
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)
|
rs1564453623
|
|
NM_001114753.3(ENG):c.1312-3C>G
|
rs2131877153
|
|
NM_001114753.3(ENG):c.1701del (p.Val568fs)
|
rs1564452060
|
|
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser)
|
rs1050077
|
|
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)
|
rs267606783
|
|
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)
|
rs878853657
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001114753.3(ENG):c.816+3G>T
|
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|