NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val)
|
rs1085307420
|
|
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)
|
rs1085307421
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.1388del (p.Gly463fs)
|
rs1085307423
|
|
NM_000020.3(ACVRL1):c.1390del (p.Gly463_Leu464insTer)
|
rs1085307424
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.1450delinsTG (p.Arg484fs)
|
rs1085307427
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)
|
rs1085307428
|
|
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)
|
rs1085307429
|
|
NM_000020.3(ACVRL1):c.37del (p.Leu13fs)
|
rs1085307404
|
|
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu)
|
rs886043123
|
|
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg)
|
rs1085307407
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
NM_000020.3(ACVRL1):c.653_654inv (p.Arg218Pro)
|
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly)
|
rs1085307408
|
|
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
|
NM_001114753.3(ENG):c.1334del (p.Met445fs)
|
rs1085307432
|
|
NM_001114753.3(ENG):c.1410del (p.Gln471fs)
|
rs1085307433
|
|
NM_001114753.3(ENG):c.1742-22T>C
|
rs1085307434
|
|
NM_001114753.3(ENG):c.1804del (p.Ile602fs)
|
rs1085307435
|
|
NM_001114753.3(ENG):c.682_686del (p.Ser228fs)
|
rs1085307430
|
|
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn)
|
rs1085307431
|
|