NM_000020.3(ACVRL1):c.*1246T>C
|
rs706819
|
0.71921
|
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.*560T>C
|
rs706818
|
0.31441
|
NM_000020.3(ACVRL1):c.*1926T>C
|
rs2293094
|
0.13660
|
NM_000020.3(ACVRL1):c.1378-699C>T
|
rs74094825
|
0.13248
|
NM_000020.3(ACVRL1):c.*869C>T
|
rs113690319
|
0.12912
|
NM_000020.3(ACVRL1):c.*913C>T
|
rs75074181
|
0.12876
|
NM_000020.3(ACVRL1):c.*2398G>A
|
rs2293092
|
0.11085
|
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.*2380C>G
|
rs2293093
|
0.08542
|
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.*1021T>C
|
rs697631
|
0.05250
|
NM_000020.3(ACVRL1):c.*949C>T
|
rs810052
|
0.05244
|
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.*2313G>A
|
rs61914025
|
0.02816
|
NM_000020.3(ACVRL1):c.626-53C>T
|
rs111245531
|
0.02158
|
NM_000020.3(ACVRL1):c.*862G>A
|
rs116256992
|
0.02136
|
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.*1560A>C
|
rs80260084
|
0.01740
|
NM_000020.3(ACVRL1):c.*2422A>G
|
rs706820
|
0.01556
|
NM_000020.3(ACVRL1):c.*1776C>T
|
rs78150616
|
0.01548
|
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.*935G>C
|
rs116740271
|
0.01206
|
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.1246+19C>T
|
rs185343653
|
0.00959
|
NM_000020.3(ACVRL1):c.1246+9C>T
|
rs115378744
|
0.00958
|
NM_000020.3(ACVRL1):c.*1041G>T
|
rs199949661
|
0.00887
|
NM_000020.3(ACVRL1):c.62-69G>T
|
rs114852790
|
0.00802
|
NM_000020.3(ACVRL1):c.*423C>T
|
rs114741844
|
0.00592
|
NM_000020.3(ACVRL1):c.1378-711C>T
|
rs116778422
|
0.00492
|
NM_000020.3(ACVRL1):c.*499T>G
|
rs572632343
|
0.00446
|
NM_000020.3(ACVRL1):c.772+24C>T
|
rs151169686
|
0.00421
|
NM_000020.3(ACVRL1):c.*992A>G
|
rs567585207
|
0.00409
|
NM_000020.3(ACVRL1):c.-52G>A
|
rs573048639
|
0.00390
|
NM_000020.3(ACVRL1):c.*2281G>T
|
rs114323941
|
0.00374
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_000020.3(ACVRL1):c.*871C>T
|
rs142552361
|
0.00167
|
NM_000020.3(ACVRL1):c.*242A>G
|
rs147728309
|
0.00109
|
NM_000020.3(ACVRL1):c.1378-115T>A
|
rs568821415
|
0.00091
|
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=)
|
rs140970131
|
0.00090
|
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe)
|
rs76038779
|
0.00088
|
NM_000020.3(ACVRL1):c.313+40G>C
|
rs376033978
|
0.00078
|
NM_000020.3(ACVRL1):c.*2277A>T
|
rs529631289
|
0.00069
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_000020.3(ACVRL1):c.*1493G>A
|
rs565400159
|
0.00061
|
NM_000020.3(ACVRL1):c.1247-15A>G
|
rs186868158
|
0.00056
|
NM_000020.3(ACVRL1):c.*1689G>A
|
rs139351455
|
0.00046
|
NM_000020.3(ACVRL1):c.*2347A>C
|
rs573540605
|
0.00046
|
NM_000020.3(ACVRL1):c.*590G>T
|
rs750985560
|
0.00046
|
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=)
|
rs139008591
|
0.00045
|
NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu)
|
rs143872998
|
0.00041
|
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=)
|
rs147005473
|
0.00040
|
NM_000020.3(ACVRL1):c.666C>T (p.His222=)
|
rs377194545
|
0.00034
|
NM_000020.3(ACVRL1):c.-129G>A
|
rs886049607
|
0.00032
|
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.*1662A>T
|
rs886049618
|
0.00026
|
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=)
|
rs187902433
|
0.00024
|
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=)
|
rs55802125
|
0.00024
|
NM_000020.3(ACVRL1):c.*1369C>T
|
rs202206221
|
0.00022
|
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)
|
rs375679140
|
0.00021
|
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu)
|
rs199542304
|
0.00019
|
NM_000020.3(ACVRL1):c.*823C>T
|
rs117777735
|
0.00016
|
NM_000020.3(ACVRL1):c.-194A>C
|
rs886049606
|
0.00016
|
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)
|
rs141764916
|
0.00016
|
NM_000020.3(ACVRL1):c.*120G>A
|
rs539571133
|
0.00014
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=)
|
rs143735377
|
0.00013
|
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val)
|
rs150038846
|
0.00013
|
NM_000020.3(ACVRL1):c.*132G>A
|
rs867355962
|
0.00012
|
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)
|
rs139380315
|
0.00011
|
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=)
|
rs56379428
|
0.00011
|
NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr)
|
rs746715195
|
0.00010
|
NM_000020.3(ACVRL1):c.*1676T>C
|
rs747662494
|
0.00009
|
NM_000020.3(ACVRL1):c.*1777G>A
|
rs546585572
|
0.00009
|
NM_000020.3(ACVRL1):c.*1839C>T
|
rs755262319
|
0.00009
|
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=)
|
rs147021958
|
0.00009
|
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)
|
rs141653630
|
0.00009
|
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala)
|
rs753792569
|
0.00009
|
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=)
|
rs779236098
|
0.00009
|
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=)
|
rs774167132
|
0.00008
|
NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp)
|
rs373133784
|
0.00006
|
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=)
|
rs141429164
|
0.00006
|
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met)
|
rs369146413
|
0.00006
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_000020.3(ACVRL1):c.759C>T (p.His253=)
|
rs374020751
|
0.00006
|
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=)
|
rs200320649
|
0.00006
|
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=)
|
rs147885255
|
0.00005
|
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=)
|
rs781586192
|
0.00005
|
NM_000020.3(ACVRL1):c.526-11C>T
|
rs573934792
|
0.00004
|
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile)
|
rs373062714
|
0.00004
|
NM_000020.3(ACVRL1):c.699G>A (p.Ser233=)
|
rs149508813
|
0.00004
|
NM_000020.3(ACVRL1):c.840C>T (p.His280=)
|
rs146188863
|
0.00004
|
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp)
|
rs145300204
|
0.00004
|
NM_000020.3(ACVRL1):c.*1107G>T
|
rs1459562251
|
0.00003
|
NM_000020.3(ACVRL1):c.*2113C>T
|
rs777884246
|
0.00003
|
NM_000020.3(ACVRL1):c.*2268G>C
|
rs929096514
|
0.00003
|
NM_000020.3(ACVRL1):c.*251A>G
|
rs886049613
|
0.00003
|
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=)
|
rs150140878
|
0.00003
|
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn)
|
rs1231598304
|
0.00003
|
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu)
|
rs767764795
|
0.00003
|
NM_000020.3(ACVRL1):c.1377+785G>A
|
rs568206326
|
0.00003
|
NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln)
|
rs200459424
|
0.00003
|
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=)
|
rs376417482
|
0.00003
|
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr)
|
rs754813319
|
0.00003
|
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=)
|
rs542810348
|
0.00003
|
NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=)
|
rs750157791
|
0.00002
|
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys)
|
rs781770577
|
0.00002
|
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=)
|
rs755557465
|
0.00002
|
NM_000020.3(ACVRL1):c.1378-417C>T
|
rs1038380207
|
0.00002
|
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg)
|
rs1439294840
|
0.00002
|
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
|
rs556168617
|
0.00002
|
NM_000020.3(ACVRL1):c.429C>T (p.Val143=)
|
rs762047618
|
0.00002
|
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
|
rs778058646
|
0.00002
|
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro)
|
rs1371249289
|
0.00002
|
NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn)
|
rs369436815
|
0.00002
|
NM_000020.3(ACVRL1):c.61+7A>T
|
rs200221603
|
0.00002
|
NM_000020.3(ACVRL1):c.813G>T (p.Thr271=)
|
rs543884349
|
0.00002
|
NM_000020.3(ACVRL1):c.933G>A (p.Ala311=)
|
rs779758131
|
0.00002
|
NM_000020.3(ACVRL1):c.*1599A>G
|
rs1438021354
|
0.00001
|
NM_000020.3(ACVRL1):c.*2098A>C
|
rs886049619
|
0.00001
|
NM_000020.3(ACVRL1):c.*2252G>A
|
rs1293668616
|
0.00001
|
NM_000020.3(ACVRL1):c.*2440G>T
|
rs527990415
|
0.00001
|
NM_000020.3(ACVRL1):c.*814G>A
|
rs1297798490
|
0.00001
|
NM_000020.3(ACVRL1):c.*879G>T
|
rs886049615
|
0.00001
|
NM_000020.3(ACVRL1):c.*980C>T
|
rs1376992134
|
0.00001
|
NM_000020.3(ACVRL1):c.-168G>C
|
rs1465380790
|
0.00001
|
NM_000020.3(ACVRL1):c.-5-59C>T
|
rs563686436
|
0.00001
|
NM_000020.3(ACVRL1):c.-58G>A
|
rs886049608
|
0.00001
|
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro)
|
rs371005117
|
0.00001
|
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser)
|
rs749510030
|
0.00001
|
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=)
|
rs779118678
|
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.120T>C (p.His40=)
|
rs745507845
|
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.1443C>T (p.Thr481=)
|
rs1219639551
|
0.00001
|
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)
|
rs121909288
|
0.00001
|
NM_000020.3(ACVRL1):c.18C>G (p.Pro6=)
|
rs778246850
|
0.00001
|
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)
|
rs1085307405
|
0.00001
|
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu)
|
rs1283365095
|
0.00001
|
NM_000020.3(ACVRL1):c.246C>T (p.Thr82=)
|
rs754476526
|
0.00001
|
NM_000020.3(ACVRL1):c.24A>G (p.Lys8=)
|
rs776283937
|
0.00001
|
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu)
|
rs777206350
|
0.00001
|
NM_000020.3(ACVRL1):c.525+10T>C
|
rs555706400
|
0.00001
|
NM_000020.3(ACVRL1):c.526-10G>A
|
rs771469803
|
0.00001
|
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp)
|
rs999380946
|
0.00001
|
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln)
|
rs1018788708
|
0.00001
|
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln)
|
rs202062929
|
0.00001
|
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=)
|
rs911791104
|
0.00001
|
NM_000020.3(ACVRL1):c.807G>A (p.Ser269=)
|
rs1332822854
|
0.00001
|
NM_000020.3(ACVRL1):c.846C>T (p.His282=)
|
rs574165873
|
0.00001
|
NM_000020.3(ACVRL1):c.87C>T (p.Gly29=)
|
rs139486404
|
0.00001
|
NM_000020.3(ACVRL1):c.90G>A (p.Pro30=)
|
rs373401329
|
0.00001
|
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=)
|
rs1359095143
|
0.00001
|
NC_000012.11:g.(?_52306239)_(52314697_?)del
|
|
|
NC_000012.11:g.(?_52306259)_(52307877_?)del
|
|
|
NC_000012.11:g.(?_52306259)_(52310037_?)dup
|
|
|
NC_000012.11:g.(?_52306863)_(52310037_?)del
|
|
|
NC_000012.11:g.(?_52309800)_(52310037_?)del
|
|
|
NC_000012.11:g.(?_52314523)_(52314677_?)del
|
|
|
NC_000012.11:g.52308281_52308282insAlu
|
|
|
NC_000012.12:g.(?_51912465)_(51912545_?)del
|
|
|
NC_000012.12:g.(?_51912465)_(51920903_?)del
|
|
|
NC_000012.12:g.(?_51913079)_(51913790_?)del
|
|
|
NC_000012.12:g.(?_51913089)_(51916243_?)del
|
|
|
NC_000012.12:g.(?_51913539)_(51919135_?)del
|
|
|
NC_000012.12:g.(?_51913954)_(51919135_?)del
|
|
|
NC_000012.12:g.(?_51920691)_(51920903_?)del
|
|
|
NC_000012.12:g.(?_51920739)_(51920913_?)del
|
|
|
NC_000012.12:g.51907469G>C
|
rs1002184603
|
|
NM_000020.2(ACVRL1):c.-202C>G
|
rs573855752
|
|
NM_000020.3(ACVRL1):c.*1042C>G
|
rs56683171
|
|
NM_000020.3(ACVRL1):c.*1042C>T
|
rs56683171
|
|
NM_000020.3(ACVRL1):c.*131C>T
|
rs886049610
|
|
NM_000020.3(ACVRL1):c.*1351G>A
|
rs886049616
|
|
NM_000020.3(ACVRL1):c.*1560A>G
|
rs80260084
|
|
NM_000020.3(ACVRL1):c.*1630C>T
|
rs886049617
|
|
NM_000020.3(ACVRL1):c.*200A>G
|
rs886049611
|
|
NM_000020.3(ACVRL1):c.*2034G>T
|
rs1941017240
|
|
NM_000020.3(ACVRL1):c.*205G>A
|
rs886049612
|
|
NM_000020.3(ACVRL1):c.*45del
|
rs761647766
|
|
NM_000020.3(ACVRL1):c.*46T>G
|
rs763282018
|
|
NM_000020.3(ACVRL1):c.*478G>A
|
rs1940976966
|
|
NM_000020.3(ACVRL1):c.*592G>A
|
rs1940979955
|
|
NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser)
|
rs1060503247
|
|
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)
|
rs1060503247
|
|
NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=)
|
|
|
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu)
|
rs1565594467
|
|
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
|
|
|
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
|
|
|
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
|
|
|
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro)
|
rs1592224349
|
|
NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg)
|
|
|
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)
|
rs2139074041
|
|
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly)
|
rs1940812234
|
|
NM_000020.3(ACVRL1):c.1014C>T (p.Val338=)
|
rs1565594472
|
|
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter)
|
rs1940812366
|
|
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
|
|
|
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro)
|
rs762287966
|
|
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
|
rs1592224385
|
|
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro)
|
rs1592224402
|
|
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter)
|
rs1226848374
|
|
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)
|
rs1592224412
|
|
NM_000020.3(ACVRL1):c.1030_1048+18del
|
rs1940812948
|
|
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe)
|
rs28936688
|
|
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter)
|
rs368437392
|
|
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=)
|
rs368437392
|
|
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg)
|
rs1060503239
|
|
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)
|
rs1592224431
|
|
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
|
|
|
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
|
|
|
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs)
|
rs1565594524
|
|
NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser)
|
|
|
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
|
rs1940813707
|
|
NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met)
|
|
|
NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro)
|
|
|
NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla)
|
|
|
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=)
|
rs750685021
|
|
NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=)
|
rs750685021
|
|
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs)
|
rs1940813766
|
|
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
|
|
|
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr)
|
rs1940813954
|
|
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs)
|
rs1565594536
|
|
NM_000020.3(ACVRL1):c.1043_1048+1dup
|
rs1940814079
|
|
NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu)
|
|
|
NM_000020.3(ACVRL1):c.1044_1048+4dup
|
|
|
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro)
|
rs765895870
|
|
NM_000020.3(ACVRL1):c.1048+1G>A
|
rs2139074368
|
|
NM_000020.3(ACVRL1):c.1048+2T>C
|
|
|
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT
|
rs1940814416
|
|
NM_000020.3(ACVRL1):c.1048+55_1048+58del
|
rs575587274
|
|
NM_000020.3(ACVRL1):c.1048+5G>A
|
|
|
NM_000020.3(ACVRL1):c.1048+7C>T
|
|
|
NM_000020.3(ACVRL1):c.1048+8G>A
|
|
|
NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser)
|
|
|
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)
|
rs1565594547
|
|
NM_000020.3(ACVRL1):c.1049-16G>A
|
|
|
NM_000020.3(ACVRL1):c.1049-1G>A
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1049-1G>T
|
rs1060503242
|
|
NM_000020.3(ACVRL1):c.1049-9C>T
|
|
|
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)
|
rs1085307415
|
|
NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val)
|
|
|
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs)
|
rs1940830552
|
|
NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=)
|
rs764080716
|
|
NM_000020.3(ACVRL1):c.105del (p.Cys36fs)
|
rs1555152447
|
|
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter)
|
rs2139075900
|
|
NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg)
|
rs2139064443
|
|
NM_000020.3(ACVRL1):c.1110G>A (p.Val370=)
|
|
|
NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys)
|
rs2139076199
|
|
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala)
|
rs1940832594
|
|
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs)
|
rs387906394
|
|
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)
|
rs1565594920
|
|
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)
|
rs28936401
|
|
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro)
|
rs1060503248
|
|
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe)
|
rs1085307416
|
|
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)
|
rs1555153277
|
|
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg)
|
rs28936399
|
|
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr)
|
rs1565594969
|
|
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
|
|
|
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser)
|
rs959973779
|
|
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
|
|
|
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg)
|
rs1940833669
|
|
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
|
|
|
NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln)
|
|
|
NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly)
|
|
|
NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val)
|
|
|
NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn)
|
|
|
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)
|
rs1085307417
|
|
NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=)
|
|
|
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter)
|
rs148057374
|
|
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu)
|
rs1205407812
|
|
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs)
|
rs1940834530
|
|
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs)
|
rs2139064475
|
|
NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=)
|
|
|
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly)
|
rs1940835356
|
|
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del)
|
rs1940835452
|
|
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter)
|
rs1940836063
|
|
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln)
|
rs1565595070
|
|
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
|
|
|
NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=)
|
|
|
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
|
rs1592225036
|
|
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn)
|
rs1940836783
|
|
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)
|
rs1592225044
|
|
NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=)
|
|
|
NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val)
|
|
|
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn)
|
rs121909286
|
|
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter)
|
rs121909289
|
|
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter)
|
rs1940837338
|
|
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
|
|
|
NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro)
|
rs2139076978
|
|
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
|
|
|
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)
|
rs2139076990
|
|
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
|
|
|
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)
|
rs1555153354
|
|
NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu)
|
|
|
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs)
|
rs2139077020
|
|
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)
|
rs1060503235
|
|
NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys)
|
rs2139077046
|
|
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)
|
rs1057521203
|
|
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly)
|
rs2139064528
|
|
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly)
|
rs1565595121
|
|
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
|
rs1565595129
|
|
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
|
|
|
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr)
|
rs1184716348
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1231_1246+4dup
|
rs1940838178
|
|
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)
|
rs121909284
|
|
NM_000020.3(ACVRL1):c.1246+11A>G
|
|
|
NM_000020.3(ACVRL1):c.1246+16A>C
|
|
|
NM_000020.3(ACVRL1):c.1246+1G>A
|
rs1565595176
|
|
NM_000020.3(ACVRL1):c.1246+2T>C
|
rs1555153382
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser)
|
rs1592225112
|
|
NM_000020.3(ACVRL1):c.1247-13T>G
|
|
|
NM_000020.3(ACVRL1):c.1247-1G>C
|
rs2139083899
|
|
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)
|
rs1940905575
|
|
NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del)
|
rs2139064546
|
|
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs)
|
rs1555153796
|
|
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met)
|
rs753480401
|
|
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
|
|
|
NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn)
|
|
|
NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=)
|
|
|
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala)
|
rs1085307419
|
|
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg)
|
rs1940906429
|
|
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
|
|
|
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=)
|
rs191763644
|
|
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys)
|
rs771606504
|
|
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser)
|
rs2139084154
|
|
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)
|
rs1940907270
|
|
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs)
|
rs1940731395
|
|
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs)
|
rs2139064592
|
|
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly)
|
rs1060503238
|
|
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr)
|
rs1555153828
|
|
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
|
|
|
NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del)
|
rs1940907616
|
|
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs)
|
rs2139064649
|
|
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)
|
rs1565596498
|
|
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=)
|
rs1592226875
|
|
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs)
|
rs1555153830
|
|
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)
|
rs1085307421
|
|
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala)
|
rs2139084277
|
|
NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly)
|
|
|
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
|
|
|
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs)
|
rs1565596508
|
|
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs)
|
rs1940908116
|
|
NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs)
|
rs2139084307
|
|
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)
|
rs1064794217
|
|
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter)
|
rs2139084336
|
|
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser)
|
rs1940908457
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs)
|
rs1940908396
|
|
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
|
|
|
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)
|
rs1555153848
|
|
NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=)
|
|
|
NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln)
|
|
|
NM_000020.3(ACVRL1):c.1376del (p.Pro459fs)
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1377+20T>G
|
|
|
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+2T>G
|
rs1555153854
|
|
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.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1378-11C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-131C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-1G>A
|
rs1060503237
|
|
NM_000020.3(ACVRL1):c.1378-216C>G
|
rs111710113
|
|
NM_000020.3(ACVRL1):c.1378-248del
|
rs202089535
|
|
NM_000020.3(ACVRL1):c.1378-297T>A
|
|
|
NM_000020.3(ACVRL1):c.1378-2A>G
|
rs2139089146
|
|
NM_000020.3(ACVRL1):c.1378-49C>T
|
|
|
NM_000020.3(ACVRL1):c.1378-4C>G
|
|
|
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG
|
rs1344683257
|
|
NM_000020.3(ACVRL1):c.1378-69C>T
|
|
|
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser)
|
rs1555152454
|
|
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs)
|
rs2139089160
|
|
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)
|
rs1085307422
|
|
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
|
|
|
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)
|
rs1555152455
|
|
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs)
|
rs1940731944
|
|
NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg)
|
|
|
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=)
|
rs760773605
|
|
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
|
rs760773605
|
|
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
|
|
|
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)
|
rs774389618
|
|
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
|
|
|
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly)
|
rs1940955180
|
|
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr)
|
rs1555154137
|
|
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)
|
rs1301762186
|
|
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)
|
rs1555154144
|
|
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
|
|
|
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter)
|
rs1940955656
|
|
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter)
|
rs1940955656
|
|
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
|
|
|
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
|
rs1940955941
|
|
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
|
rs1940955941
|
|
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)
|
rs1592228303
|
|
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg)
|
rs2139064757
|
|
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.1436G>C (p.Arg479Pro)
|
rs1085307426
|
|
NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile)
|
|
|
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
|
|
|
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)
|
rs267606632
|
|
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro)
|
rs387906392
|
|
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
|
|
|
NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=)
|
|
|
NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr)
|
|
|
NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro)
|
|
|
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
|
|
|
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg)
|
rs1565597471
|
|
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs)
|
rs1940958854
|
|
NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=)
|
rs121909288
|
|
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu)
|
rs863223408
|
|
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
|
rs1940959480
|
|
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)
|
rs1940959530
|
|
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu)
|
rs1940959530
|
|
NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro)
|
rs267606633
|
|
NM_000020.3(ACVRL1):c.145del (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)
|
rs863223415
|
|
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)
|
rs1085307428
|
|
NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=)
|
|
|
NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=)
|
rs1286842082
|
|
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile)
|
rs1940959903
|
|
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro)
|
rs1057523573
|
|
NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=)
|
|
|
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)
|
rs1085307429
|
|
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)
|
rs1555152468
|
|
NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly)
|
rs1555152468
|
|
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=)
|
rs745390732
|
|
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)
|
rs121909285
|
|
NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser)
|
|
|
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)
|
rs2139064874
|
|
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)
|
rs863223409
|
|
NM_000020.3(ACVRL1):c.180G>A (p.Gly60=)
|
|
|
NM_000020.3(ACVRL1):c.180del (p.Arg61fs)
|
|
|
NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser)
|
|
|
NM_000020.3(ACVRL1):c.183del (p.Arg61fs)
|
rs1060503246
|
|
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)
|
rs1592221728
|
|
NM_000020.3(ACVRL1):c.190del (p.Gln64fs)
|
rs1060503241
|
|
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
|
|
|
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter)
|
rs1427299751
|
|
NM_000020.3(ACVRL1):c.193del (p.Glu65fs)
|
rs2139065161
|
|
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
|
|
|
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)
|
rs863223414
|
|
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg)
|
rs2139065261
|
|
NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly)
|
|
|
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter)
|
rs56080682
|
|
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter)
|
rs750720985
|
|
NM_000020.3(ACVRL1):c.223del (p.Glu75fs)
|
rs2139065347
|
|
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp)
|
rs1221689111
|
|
NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg)
|
|
|
NM_000020.3(ACVRL1):c.237del (p.Arg80fs)
|
rs1592221830
|
|
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)
|
rs1592221830
|
|
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
|
|
|
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys)
|
rs1940738967
|
|
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp)
|
rs1430932447
|
|
NM_000020.3(ACVRL1):c.259del (p.His87fs)
|
rs1940739463
|
|
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
|
rs1940739692
|
|
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.265T>G (p.Cys89Gly)
|
rs1555152520
|
|
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe)
|
rs1060503234
|
|
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)
|
rs1592221930
|
|
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)
|
rs863223410
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp)
|
|
|
NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn)
|
|
|
NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro)
|
|
|
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
|
|
|
NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp)
|
rs2139065803
|
|
NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)
|
|
|
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser)
|
rs1085307406
|
|
NM_000020.3(ACVRL1):c.303_313+2del
|
|
|
NM_000020.3(ACVRL1):c.306G>T (p.Val102=)
|
|
|
NM_000020.3(ACVRL1):c.313+1G>A
|
rs1555152548
|
|
NM_000020.3(ACVRL1):c.313+1G>C
|
|
|
NM_000020.3(ACVRL1):c.313+1G>T
|
rs1555152548
|
|
NM_000020.3(ACVRL1):c.313+7C>G
|
rs374171506
|
|
NM_000020.3(ACVRL1):c.313+7C>T
|
rs374171506
|
|
NM_000020.3(ACVRL1):c.314-12C>A
|
rs1226569087
|
|
NM_000020.3(ACVRL1):c.314-13C>T
|
|
|
NM_000020.3(ACVRL1):c.314-16T>C
|
|
|
NM_000020.3(ACVRL1):c.314-19C>T
|
|
|
NM_000020.3(ACVRL1):c.314-49G>C
|
rs200624173
|
|
NM_000020.3(ACVRL1):c.314-9C>T
|
|
|
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
|
|
|
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter)
|
rs143872998
|
|
NM_000020.3(ACVRL1):c.336del (p.Gln112fs)
|
rs1940750523
|
|
NM_000020.3(ACVRL1):c.339G>A (p.Pro113=)
|
|
|
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter)
|
rs1940751311
|
|
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
|
|
|
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs)
|
rs2139067065
|
|
NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln)
|
|
|
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro)
|
rs762756031
|
|
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=)
|
rs56301903
|
|
NM_000020.3(ACVRL1):c.372C>T (p.Gly124=)
|
rs55758365
|
|
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=)
|
rs148975811
|
|
NM_000020.3(ACVRL1):c.375del (p.Val126fs)
|
rs1940751760
|
|
NM_000020.3(ACVRL1):c.375dup (p.Val126fs)
|
rs1940751760
|
|
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
|
|
|
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs)
|
rs2139067187
|
|
NM_000020.3(ACVRL1):c.393C>T (p.Ala131=)
|
rs2139067291
|
|
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.417C>A (p.Gly139=)
|
rs2139067433
|
|
NM_000020.3(ACVRL1):c.41dup (p.Met15fs)
|
rs1060503236
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
|
|
|
NM_000020.3(ACVRL1):c.435del (p.Arg146fs)
|
rs2139067539
|
|
NM_000020.3(ACVRL1):c.462C>T (p.His154=)
|
rs1188042599
|
|
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.469C>T (p.Leu157=)
|
|
|
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
|
rs1940756257
|
|
NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly)
|
|
|
NM_000020.3(ACVRL1):c.495A>G (p.Lys165=)
|
|
|
NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro)
|
|
|
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
|
|
|
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs)
|
rs2139067828
|
|
NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter)
|
rs2139067861
|
|
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs)
|
rs2139062776
|
|
NM_000020.3(ACVRL1):c.510del (p.Asp171fs)
|
rs2139067888
|
|
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs)
|
rs1940757414
|
|
NM_000020.3(ACVRL1):c.525+14_525+21del
|
|
|
NM_000020.3(ACVRL1):c.525+1G>A
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.525+1G>C
|
|
|
NM_000020.3(ACVRL1):c.525+1G>T
|
rs1555152710
|
|
NM_000020.3(ACVRL1):c.525+1del
|
rs1060503249
|
|
NM_000020.3(ACVRL1):c.525+2T>C
|
rs2139067969
|
|
NM_000020.3(ACVRL1):c.525+3A>G
|
|
|
NM_000020.3(ACVRL1):c.525+7G>A
|
|
|
NM_000020.3(ACVRL1):c.526-13T>A
|
|
|
NM_000020.3(ACVRL1):c.526-1G>A
|
rs1565593274
|
|
NM_000020.3(ACVRL1):c.526-7C>A
|
rs772776468
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr)
|
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs)
|
rs1555152771
|
|
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter)
|
rs2139068677
|
|
NM_000020.3(ACVRL1):c.549C>A (p.Thr183=)
|
rs2139068700
|
|
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)
|
rs1288729113
|
|
NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)
|
|
|
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=)
|
rs1404977364
|
|
NM_000020.3(ACVRL1):c.573del (p.Phe192fs)
|
rs1555152786
|
|
NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu)
|
|
|
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro)
|
rs1555152790
|
|
NM_000020.3(ACVRL1):c.579G>T (p.Leu193=)
|
rs201207660
|
|
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
|
|
|
NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly)
|
|
|
NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala)
|
|
|
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)
|
rs1555152345
|
|
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala)
|
rs886043123
|
|
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly)
|
rs999380946
|
|
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)
|
rs1318446539
|
|
NM_000020.3(ACVRL1):c.61+14G>A
|
|
|
NM_000020.3(ACVRL1):c.61+1G>A
|
|
|
NM_000020.3(ACVRL1):c.61+1G>T
|
|
|
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del)
|
rs1060503250
|
|
NM_000020.3(ACVRL1):c.615G>A (p.Val205=)
|
rs1940766632
|
|
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
|
|
|
NM_000020.3(ACVRL1):c.62-9G>A
|
|
|
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter)
|
rs1940766819
|
|
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs)
|
rs1060503240
|
|
NM_000020.3(ACVRL1):c.625+10G>A
|
rs1592223042
|
|
NM_000020.3(ACVRL1):c.625+110_625+121del
|
rs1592223149
|
|
NM_000020.3(ACVRL1):c.625+110_625+130del
|
rs67833112
|
|
NM_000020.3(ACVRL1):c.625+1G>A
|
|
|
NM_000020.3(ACVRL1):c.625+1G>T
|
rs1940767034
|
|
NM_000020.3(ACVRL1):c.625+1del
|
rs1555152815
|
|
NM_000020.3(ACVRL1):c.625+20G>A
|
|
|
NM_000020.3(ACVRL1):c.625+2T>C
|
rs1592223028
|
|
NM_000020.3(ACVRL1):c.625+3G>C
|
|
|
NM_000020.3(ACVRL1):c.625+4del
|
|
|
NM_000020.3(ACVRL1):c.625+5G>T
|
rs2139069022
|
|
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg)
|
rs1940766958
|
|
NM_000020.3(ACVRL1):c.626-16C>T
|
|
|
NM_000020.3(ACVRL1):c.626-1G>A
|
rs2139070294
|
|
NM_000020.3(ACVRL1):c.626-2A>G
|
rs1940780382
|
|
NM_000020.3(ACVRL1):c.626-59del
|
rs864622702
|
|
NM_000020.3(ACVRL1):c.626-9G>A
|
rs1940780208
|
|
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
|
|
|
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys)
|
rs1940780439
|
|
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)
|
rs28936687
|
|
NM_000020.3(ACVRL1):c.633C>T (p.Gly211=)
|
|
|
NM_000020.3(ACVRL1):c.641del (p.Gly214fs)
|
rs1555152909
|
|
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys)
|
rs754283265
|
|
NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup)
|
rs2139070394
|
|
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)
|
rs1592223399
|
|
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
|
|
|
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro)
|
rs779287554
|
|
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)
|
rs1592223416
|
|
NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe)
|
rs142906906
|
|
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter)
|
rs2139070482
|
|
NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser)
|
rs1940782114
|
|
NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg)
|
|
|
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
|
|
|
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
|
|
|
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs)
|
rs1940782251
|
|
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
|
|
|
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)
|
rs1565593639
|
|
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu)
|
rs1592223468
|
|
NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg)
|
|
|
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met)
|
rs1940782891
|
|
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn)
|
rs1940782986
|
|
NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe)
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
NM_000020.3(ACVRL1):c.68del (p.Pro23fs)
|
rs2139064139
|
|
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del)
|
rs387906391
|
|
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs)
|
rs2139070714
|
|
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=)
|
rs762796409
|
|
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
|
|
|
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys)
|
rs1592223490
|
|
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs)
|
rs1555152935
|
|
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe)
|
rs761033311
|
|
NM_000020.3(ACVRL1):c.714del (p.Trp239fs)
|
rs1940783683
|
|
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
|
|
|
NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp)
|
|
|
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter)
|
rs1940784067
|
|
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs)
|
rs1592221459
|
|
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys)
|
rs755026232
|
|
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs)
|
rs1555152955
|
|
NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val)
|
|
|
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
|
|
|
NM_000020.3(ACVRL1):c.758A>G (p.His253Arg)
|
rs2139070976
|
|
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del)
|
rs387906393
|
|
NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del)
|
|
|
NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp)
|
|
|
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro)
|
rs2139071033
|
|
NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG
|
|
|
NM_000020.3(ACVRL1):c.772+1G>C
|
rs1940785759
|
|
NM_000020.3(ACVRL1):c.772+27G>A
|
|
|
NM_000020.3(ACVRL1):c.772+5G>A
|
|
|
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)
|
rs1555152966
|
|
NM_000020.3(ACVRL1):c.773-3C>G
|
rs1592223964
|
|
NM_000020.3(ACVRL1):c.773-7C>T
|
|
|
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC
|
rs1555153071
|
|
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn)
|
rs2139072643
|
|
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
|
|
|
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs)
|
rs2139064218
|
|
NM_000020.3(ACVRL1):c.798C>A (p.Ser266=)
|
rs2139072722
|
|
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
|
|
|
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs)
|
rs2139072772
|
|
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter)
|
rs1555153077
|
|
NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys)
|
rs2139072795
|
|
NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg)
|
|
|
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)
|
rs1085307409
|
|
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys)
|
rs757645341
|
|
NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro)
|
|
|
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
|
rs750085854
|
|
NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met)
|
|
|
NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr)
|
|
|
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
|
|
|
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter)
|
rs779485996
|
|
NM_000020.3(ACVRL1):c.843G>A (p.Glu281=)
|
|
|
NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser)
|
|
|
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs)
|
rs1940804402
|
|
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)
|
rs1940804461
|
|
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe)
|
rs768643771
|
|
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
|
|
|
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)
|
rs1085307410
|
|
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter)
|
rs542810348
|
|
NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser)
|
rs1940804969
|
|
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
|
|
|
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
|
|
|
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter)
|
rs2139073064
|
|
NM_000020.3(ACVRL1):c.86del (p.Gly29fs)
|
rs1940729491
|
|
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter)
|
rs1057256890
|
|
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)
|
rs1592224087
|
|
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter)
|
rs1940805354
|
|
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
|
|
|
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg)
|
rs2139073155
|
|
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=)
|
rs776879586
|
|
NM_000020.3(ACVRL1):c.889del (p.His297fs)
|
rs1060503245
|
|
NM_000020.3(ACVRL1):c.897T>C (p.Ala299=)
|
|
|
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)
|
rs1565594217
|
|
NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro)
|
rs1565594220
|
|
NM_000020.3(ACVRL1):c.909T>C (p.Ala303=)
|
|
|
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
|
|
|
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)
|
rs1555153126
|
|
NM_000020.3(ACVRL1):c.915C>T (p.Ser305=)
|
|
|
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro)
|
rs1940807179
|
|
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys)
|
rs1060503244
|
|
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)
|
rs1940807412
|
|
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
|
|
|
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu)
|
rs863223411
|
|
NM_000020.3(ACVRL1):c.921A>T (p.Ala307=)
|
|
|
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter)
|
rs1555153131
|
|
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser)
|
rs1555153133
|
|
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg)
|
rs1555153133
|
|
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=)
|
rs1592224196
|
|
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs)
|
rs1940808154
|
|
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)
|
rs565262730
|
|
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs)
|
rs2139073551
|
|
NM_000020.3(ACVRL1):c.933G>C (p.Ala311=)
|
|
|
NM_000020.3(ACVRL1):c.935A>C (p.His312Pro)
|
|
|
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
|
|
|
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr)
|
rs1565594311
|
|
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr)
|
rs1085307413
|
|
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.962_963del (p.Gln321fs)
|
|
|
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
|
|
|
NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr)
|
|
|
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn)
|
rs771877309
|
|
NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly)
|
|
|
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro)
|
rs1940810597
|
|
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp)
|
rs769850351
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro)
|
rs2139073840
|
|
NM_000020.3(ACVRL1):c.983A>G (p.His328Arg)
|
|
|
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln)
|
rs1565594410
|
|
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)
|
rs863223412
|
|
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
|
|
|
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
|
|
|
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=)
|
rs1463725277
|
|
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser)
|
rs1166311240
|
|
NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu)
|
rs2139073925
|
|
NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg)
|
rs2139073933
|
|
NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys)
|
rs2139073944
|
|
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)
|
rs863223413
|
|
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg)
|
rs1453780248
|
|