NM_000020.3(ACVRL1):c.314-35A>G
|
rs2071219
|
0.46706
|
NM_000020.3(ACVRL1):c.313+11C>T
|
rs2071218
|
0.45979
|
NM_000020.3(ACVRL1):c.1378-248T>G
|
rs2656315
|
0.32172
|
NM_000020.3(ACVRL1):c.1378-405A>G
|
rs813471
|
0.31751
|
NM_000020.3(ACVRL1):c.1377+45T>C
|
rs706815
|
0.31560
|
NM_000020.3(ACVRL1):c.1377+65A>G
|
rs706816
|
0.31557
|
NM_000020.3(ACVRL1):c.1378-699C>T
|
rs74094825
|
0.13248
|
NM_000020.3(ACVRL1):c.-5-227C>G
|
rs2277381
|
0.08706
|
NM_000020.3(ACVRL1):c.1378-155T>G
|
rs2277383
|
0.08548
|
NM_000020.3(ACVRL1):c.625+164T>C
|
rs77709482
|
0.07925
|
NM_000020.3(ACVRL1):c.-5-33C>T
|
rs2277382
|
0.07716
|
NM_000020.3(ACVRL1):c.1378-339T>G
|
rs74094826
|
0.05144
|
NM_000020.3(ACVRL1):c.1377+326G>T
|
rs11609817
|
0.04840
|
NM_000020.3(ACVRL1):c.1378-217A>G
|
rs772003
|
0.04704
|
NM_000020.3(ACVRL1):c.747G>A (p.Val249=)
|
rs1058563
|
0.04166
|
NM_000020.3(ACVRL1):c.61+22A>G
|
rs706812
|
0.03730
|
NM_000020.3(ACVRL1):c.626-53C>T
|
rs111245531
|
0.02158
|
NM_000020.3(ACVRL1):c.1378-30T>C
|
rs142910573
|
0.02009
|
NM_000020.3(ACVRL1):c.*58G>A
|
rs182368657
|
0.01817
|
NM_000020.3(ACVRL1):c.314-65G>C
|
rs113559681
|
0.01773
|
NM_000020.3(ACVRL1):c.1377+636C>T
|
rs706817
|
0.01525
|
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=)
|
rs77341011
|
0.01461
|
NM_000020.3(ACVRL1):c.-46C>G
|
rs190953189
|
0.01297
|
NM_000020.3(ACVRL1):c.1378-216C>T
|
rs111710113
|
0.01212
|
NM_000020.3(ACVRL1):c.1378-556C>T
|
rs78740726
|
0.00969
|
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=)
|
rs61734313
|
0.00959
|
NM_000020.3(ACVRL1):c.62-69G>T
|
rs114852790
|
0.00802
|
NM_000020.3(ACVRL1):c.1378-711C>T
|
rs116778422
|
0.00492
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000020.3(ACVRL1):c.1378-115T>A
|
rs568821415
|
0.00091
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=)
|
rs139008591
|
0.00045
|
NM_000020.3(ACVRL1):c.666C>T (p.His222=)
|
rs377194545
|
0.00034
|
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
|
rs375679140
|
0.00021
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_000020.3(ACVRL1):c.1377+785G>A
|
rs568206326
|
0.00003
|
NM_000020.3(ACVRL1):c.1378-417C>T
|
rs1038380207
|
0.00002
|
NM_000020.3(ACVRL1):c.-5-59C>T
|
rs563686436
|
0.00001
|
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
|
rs371005117
|
0.00001
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg)
|
rs1324917279
|
0.00001
|
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)
|
rs1131691686
|
0.00001
|
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)
|
rs121909284
|
0.00001
|
NM_000020.3(ACVRL1):c.1378-368T>C
|
rs1940945149
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln)
|
rs1085307426
|
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.238C>T (p.Arg80Cys)
|
rs756447582
|
0.00001
|
NC_000012.12:g.51907469G>C
|
rs1002184603
|
|
NM_000020.3(ACVRL1):c.*45del
|
rs761647766
|
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1046T>G (p.Leu349Arg)
|
rs765895870
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys)
|
rs2139076199
|
|
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)
|
rs1565594920
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)
|
rs1565595009
|
|
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
|
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn)
|
rs1565596460
|
|
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)
|
rs1555153828
|
|
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)
|
rs1565596498
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)
|
rs1555153848
|
|
NM_000020.3(ACVRL1):c.1377+248_1377+251dup
|
rs200979126
|
|
NM_000020.3(ACVRL1):c.1377+249TG[18]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+249TG[23]
|
rs55945390
|
|
NM_000020.3(ACVRL1):c.1377+4A>T
|
rs1940909579
|
|
NM_000020.3(ACVRL1):c.1377+55T>C
|
|
|
NM_000020.3(ACVRL1):c.1377+745G>A
|
|
|
NM_000020.3(ACVRL1):c.1378-248del
|
rs202089535
|
|
NM_000020.3(ACVRL1):c.1378-297T>A
|
|
|
NM_000020.3(ACVRL1):c.1378-49C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG
|
rs1344683257
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro)
|
rs1295923763
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)
|
rs775754117
|
|
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.271del (p.Asp91fs)
|
rs1555152526
|
|
NM_000020.3(ACVRL1):c.304G>C (p.Val102Leu)
|
rs1555152538
|
|
NM_000020.3(ACVRL1):c.314-49G>C
|
rs200624173
|
|
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=)
|
rs148975811
|
|
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)
|
rs863223416
|
|
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs)
|
rs2139067412
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.525+1G>A
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys)
|
rs1555152796
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.615G>A (p.Val205=)
|
rs1940766632
|
|
NM_000020.3(ACVRL1):c.625+110_625+121del
|
rs1592223149
|
|
NM_000020.3(ACVRL1):c.625+110_625+125del
|
rs1555152839
|
|
NM_000020.3(ACVRL1):c.625+110_625+130del
|
rs67833112
|
|
NM_000020.3(ACVRL1):c.626-3C>G
|
rs1555152899
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
|
rs1940782251
|
|
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)
|
rs1565593639
|
|
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
|
rs1940782986
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)
|
rs1592221459
|
|
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)
|
rs1555152955
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.772+1G>C
|
rs1940785759
|
|
NM_000020.3(ACVRL1):c.772+5G>A
|
|
|
NM_000020.3(ACVRL1):c.773-3C>G
|
rs1592223964
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.870del (p.Arg291fs)
|
rs1565594157
|
|
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)
|
rs1592224087
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro)
|
rs1565594238
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)
|
rs1085307414
|
|
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter)
|
rs2139073732
|
|
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
|
rs1940810597
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
|
rs1453780248
|
|