NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001164508.2(NEB):c.23742+2T>C
|
rs545937015
|
0.00006
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.19836+1G>A
|
rs1446930968
|
0.00003
|
NM_001164508.2(NEB):c.22800+1G>A
|
rs1302373559
|
0.00003
|
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu)
|
rs768144106
|
0.00001
|
NM_001100.4(ACTA1):c.990+1G>T
|
rs372686280
|
0.00001
|
NM_001164508.2(NEB):c.1153-2A>G
|
rs1553609515
|
0.00001
|
NM_001164508.2(NEB):c.1258-2A>G
|
rs1553608621
|
0.00001
|
NM_001164508.2(NEB):c.1365+2T>C
|
rs770797137
|
0.00001
|
NM_001164508.2(NEB):c.1570-2del
|
rs2099590816
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.21313-2A>T
|
rs1212081578
|
0.00001
|
NM_001164508.2(NEB):c.21736-13_21743del
|
rs767772838
|
0.00001
|
NM_001164508.2(NEB):c.22375-1G>A
|
rs949331605
|
0.00001
|
NM_001164508.2(NEB):c.22696-1G>A
|
rs745511810
|
0.00001
|
NM_001164508.2(NEB):c.22905+2T>C
|
rs1553623367
|
0.00001
|
NM_001164508.2(NEB):c.23016+1G>A
|
rs111833078
|
0.00001
|
NM_001164508.2(NEB):c.23127+2T>C
|
rs112610938
|
0.00001
|
NM_001164508.2(NEB):c.23451+1G>T
|
rs1011425121
|
0.00001
|
NM_001164508.2(NEB):c.24022-1G>C
|
rs1553561697
|
0.00001
|
NM_001164508.2(NEB):c.24300+1G>A
|
rs1366853918
|
0.00001
|
NM_001164508.2(NEB):c.24393+1G>A
|
rs775631800
|
0.00001
|
NM_001164508.2(NEB):c.295-2A>G
|
rs1428300892
|
0.00001
|
NM_001164508.2(NEB):c.37-1G>A
|
rs1428597732
|
0.00001
|
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys)
|
rs369224273
|
0.00001
|
NM_006063.3(KLHL41):c.667C>T (p.Arg223Cys)
|
rs754460870
|
0.00001
|
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
NC_000002.11:g.(?_152348187)_(152425896_?)dup
|
|
|
NC_000002.11:g.(?_152506680)_(152507409_?)del
|
|
|
NC_000002.11:g.(?_152541945)_(152544191_?)del
|
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)
|
rs1553255312
|
|
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)
|
rs1553255312
|
|
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala)
|
rs1558081384
|
|
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu)
|
rs1057518493
|
|
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)
|
rs2102735038
|
|
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)
|
rs587777354
|
|
NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)
|
|
|
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)
|
rs1553255293
|
|
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu)
|
rs1571892209
|
|
NM_001100.4(ACTA1):c.130-1G>A
|
|
|
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg)
|
rs794727488
|
|
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn)
|
rs1085308014
|
|
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser)
|
rs1553255502
|
|
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val)
|
rs2102736312
|
|
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys)
|
rs1057520216
|
|
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr)
|
rs1659975786
|
|
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile)
|
rs1553255486
|
|
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe)
|
rs886039557
|
|
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser)
|
rs1064794287
|
|
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn)
|
rs2102735904
|
|
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys)
|
rs1659962016
|
|
NM_001100.4(ACTA1):c.617-5C>A
|
rs199804338
|
|
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu)
|
rs794727714
|
|
NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)
|
|
|
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys)
|
rs1558081624
|
|
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg)
|
rs1553255360
|
|
NM_001100.4(ACTA1):c.844A>C (p.Asn282His)
|
|
|
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys)
|
rs2102735175
|
|
NM_001164508.2(NEB):c.10143+2T>G
|
|
|
NM_001164508.2(NEB):c.10144-2A>G
|
rs1435980710
|
|
NM_001164508.2(NEB):c.10675C>G (p.Arg3559Gly)
|
rs751938843
|
|
NM_001164508.2(NEB):c.11077-1G>A
|
rs1458096844
|
|
NM_001164508.2(NEB):c.1153-2A>T
|
rs1553609515
|
|
NM_001164508.2(NEB):c.11805+1G>A
|
|
|
NM_001164508.2(NEB):c.11806-1G>A
|
rs886041851
|
|
NM_001164508.2(NEB):c.12019-2A>G
|
|
|
NM_001164508.2(NEB):c.12330+1G>A
|
rs1350840483
|
|
NM_001164508.2(NEB):c.12330+5G>A
|
rs763163879
|
|
NM_001164508.2(NEB):c.12331-1G>A
|
rs2097775442
|
|
NM_001164508.2(NEB):c.1257+2T>G
|
rs2149365500
|
|
NM_001164508.2(NEB):c.12640-1G>A
|
rs2097713999
|
|
NM_001164508.2(NEB):c.12747+2T>C
|
|
|
NM_001164508.2(NEB):c.12748-1G>A
|
|
|
NM_001164508.2(NEB):c.12748-1_12761del
|
rs2153940927
|
|
NM_001164508.2(NEB):c.13060-2A>G
|
rs2097571378
|
|
NM_001164508.2(NEB):c.13368+1G>A
|
|
|
NM_001164508.2(NEB):c.13369-2A>C
|
|
|
NM_001164508.2(NEB):c.13369-2A>G
|
|
|
NM_001164508.2(NEB):c.13369-2_13374del
|
|
|
NM_001164508.2(NEB):c.13476+1G>A
|
rs1578868550
|
|
NM_001164508.2(NEB):c.13477-2A>G
|
rs2153903681
|
|
NM_001164508.2(NEB):c.13477-2A>T
|
|
|
NM_001164508.2(NEB):c.1365+1G>T
|
|
|
NM_001164508.2(NEB):c.1569+1G>A
|
rs1553605553
|
|
NM_001164508.2(NEB):c.1569+1G>C
|
|
|
NM_001164508.2(NEB):c.1570-1G>C
|
rs1390328608
|
|
NM_001164508.2(NEB):c.1570-2A>G
|
rs1553603958
|
|
NM_001164508.2(NEB):c.1675-2A>G
|
|
|
NM_001164508.2(NEB):c.17431-2A>T
|
|
|
NM_001164508.2(NEB):c.17535+1G>T
|
rs2153749469
|
|
NM_001164508.2(NEB):c.17736+1G>A
|
|
|
NM_001164508.2(NEB):c.1782+1del
|
rs1390897355
|
|
NM_001164508.2(NEB):c.17953_18472-56del
|
|
|
NM_001164508.2(NEB):c.18146_18156+7del
|
|
|
NM_001164508.2(NEB):c.18157-2A>G
|
rs925947627
|
|
NM_001164508.2(NEB):c.18261+1G>A
|
|
|
NM_001164508.2(NEB):c.18261+1G>T
|
rs112544116
|
|
NM_001164508.2(NEB):c.18366+2T>C
|
rs2153729614
|
|
NM_001164508.2(NEB):c.18367-1_18367delinsAA
|
rs1553770178
|
|
NM_001164508.2(NEB):c.18367-1_18370del
|
rs1553770146
|
|
NM_001164508.2(NEB):c.18471+1G>C
|
rs1553769576
|
|
NM_001164508.2(NEB):c.18580-8_18608del
|
|
|
NM_001164508.2(NEB):c.18694-1G>A
|
rs2153712182
|
|
NM_001164508.2(NEB):c.1897-1G>A
|
rs1553593177
|
|
NM_001164508.2(NEB):c.18996+2T>C
|
rs1577636079
|
|
NM_001164508.2(NEB):c.19101+1G>A
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
NM_001164508.2(NEB):c.19836+1del
|
|
|
NM_001164508.2(NEB):c.19945-2A>C
|
rs113473971
|
|
NM_001164508.2(NEB):c.20049+2T>A
|
|
|
NM_001164508.2(NEB):c.20157+1G>A
|
|
|
NM_001164508.2(NEB):c.20262+2T>C
|
|
|
NM_001164508.2(NEB):c.20262+2T>G
|
rs2153617573
|
|
NM_001164508.2(NEB):c.20578-2A>G
|
|
|
NM_001164508.2(NEB):c.20682+1G>A
|
rs1576819152
|
|
NM_001164508.2(NEB):c.21102+2_21102+3del
|
|
|
NM_001164508.2(NEB):c.21103-1G>C
|
|
|
NM_001164508.2(NEB):c.21313-1G>C
|
rs2153515796
|
|
NM_001164508.2(NEB):c.21418-1G>A
|
rs2153501801
|
|
NM_001164508.2(NEB):c.21523-1G>T
|
|
|
NM_001164508.2(NEB):c.21735+1G>C
|
rs2153475495
|
|
NM_001164508.2(NEB):c.21736-1G>T
|
|
|
NM_001164508.2(NEB):c.21736-2A>G
|
rs1389892619
|
|
NM_001164508.2(NEB):c.21945+1G>A
|
|
|
NM_001164508.2(NEB):c.21945+1G>C
|
rs2153458564
|
|
NM_001164508.2(NEB):c.2211+2T>A
|
rs2149150540
|
|
NM_001164508.2(NEB):c.22161+1G>A
|
rs112933443
|
|
NM_001164508.2(NEB):c.22272+1G>A
|
|
|
NM_001164508.2(NEB):c.22272+2_22272+3del
|
rs2153447342
|
|
NM_001164508.2(NEB):c.22375-1G>C
|
|
|
NM_001164508.2(NEB):c.22375-2A>G
|
rs2153437998
|
|
NM_001164508.2(NEB):c.22480-1G>C
|
|
|
NM_001164508.2(NEB):c.22696-2A>C
|
|
|
NM_001164508.2(NEB):c.22800+2T>G
|
rs1553627466
|
|
NM_001164508.2(NEB):c.23017-3_23017del
|
|
|
NM_001164508.2(NEB):c.2310+2_2310+3delinsAC
|
|
|
NM_001164508.2(NEB):c.23127+1G>A
|
|
|
NM_001164508.2(NEB):c.23127+2T>A
|
|
|
NM_001164508.2(NEB):c.23128-1G>T
|
|
|
NM_001164508.2(NEB):c.23242-2A>G
|
|
|
NM_001164508.2(NEB):c.23346+1G>A
|
|
|
NM_001164508.2(NEB):c.23346+2T>G
|
|
|
NM_001164508.2(NEB):c.23347-2A>G
|
|
|
NM_001164508.2(NEB):c.23451+1G>A
|
|
|
NM_001164508.2(NEB):c.23451+1G>C
|
rs1011425121
|
|
NM_001164508.2(NEB):c.23452-1G>C
|
|
|
NM_001164508.2(NEB):c.23556+1G>T
|
rs2153195911
|
|
NM_001164508.2(NEB):c.23556+2T>A
|
|
|
NM_001164508.2(NEB):c.23650-1G>A
|
rs2153172016
|
|
NM_001164508.2(NEB):c.23650-2A>T
|
|
|
NM_001164508.2(NEB):c.23743-1G>C
|
rs797045098
|
|
NM_001164508.2(NEB):c.23835+2T>C
|
|
|
NM_001164508.2(NEB):c.23836-1G>A
|
|
|
NM_001164508.2(NEB):c.23836-2A>G
|
rs2153104173
|
|
NM_001164508.2(NEB):c.23929-1G>C
|
rs2153074006
|
|
NM_001164508.2(NEB):c.23929-2A>C
|
rs1553569122
|
|
NM_001164508.2(NEB):c.24022-1G>A
|
rs1553561697
|
|
NM_001164508.2(NEB):c.24114+1G>C
|
|
|
NM_001164508.2(NEB):c.24115-1G>A
|
|
|
NM_001164508.2(NEB):c.24115-2A>G
|
rs2152992966
|
|
NM_001164508.2(NEB):c.24297_24300+1del
|
|
|
NM_001164508.2(NEB):c.24301-1G>T
|
|
|
NM_001164508.2(NEB):c.24394-1G>A
|
rs1421095081
|
|
NM_001164508.2(NEB):c.24394-1G>C
|
|
|
NM_001164508.2(NEB):c.24487-1G>A
|
|
|
NM_001164508.2(NEB):c.24487-2A>G
|
|
|
NM_001164508.2(NEB):c.24487-6_24491del
|
|
|
NM_001164508.2(NEB):c.24579+1G>T
|
rs2058584112
|
|
NM_001164508.2(NEB):c.24579+2T>C
|
rs1039759571
|
|
NM_001164508.2(NEB):c.24580-1G>C
|
rs1574772311
|
|
NM_001164508.2(NEB):c.24672+1G>C
|
|
|
NM_001164508.2(NEB):c.24673-1G>A
|
rs1574741105
|
|
NM_001164508.2(NEB):c.24673-1G>C
|
|
|
NM_001164508.2(NEB):c.2472_2638-455del
|
|
|
NM_001164508.2(NEB):c.24765+1G>A
|
rs2058028669
|
|
NM_001164508.2(NEB):c.24765+2T>A
|
rs2152850167
|
|
NM_001164508.2(NEB):c.25057+1G>A
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>C
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25057+1G>T
|
rs1191429915
|
|
NM_001164508.2(NEB):c.25058-2A>C
|
rs866309952
|
|
NM_001164508.2(NEB):c.2523+2T>A
|
rs2099513404
|
|
NM_001164508.2(NEB):c.25235_25297+90del
|
|
|
NM_001164508.2(NEB):c.2524-2A>G
|
rs2148951277
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.25298-2A>C
|
|
|
NM_001164508.2(NEB):c.25298-2A>G
|
|
|
NM_001164508.2(NEB):c.2835+1G>A
|
|
|
NM_001164508.2(NEB):c.2836-2A>G
|
rs1208297049
|
|
NM_001164508.2(NEB):c.3042+1G>A
|
rs2099408391
|
|
NM_001164508.2(NEB):c.3042+1G>T
|
|
|
NM_001164508.2(NEB):c.3043-1G>A
|
rs113326313
|
|
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup)
|
rs1288870299
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.36+1G>C
|
rs1553711195
|
|
NM_001164508.2(NEB):c.37-1G>C
|
rs1428597732
|
|
NM_001164508.2(NEB):c.3988-1G>A
|
rs1553517128
|
|
NM_001164508.2(NEB):c.3988-2A>G
|
rs924831918
|
|
NM_001164508.2(NEB):c.402+1G>T
|
|
|
NM_001164508.2(NEB):c.403-1G>C
|
|
|
NM_001164508.2(NEB):c.403-2A>G
|
|
|
NM_001164508.2(NEB):c.403-6_405del
|
rs1553689774
|
|
NM_001164508.2(NEB):c.4300-1G>A
|
|
|
NM_001164508.2(NEB):c.4300-1G>C
|
|
|
NM_001164508.2(NEB):c.4506+1G>A
|
rs112517981
|
|
NM_001164508.2(NEB):c.4506+2T>C
|
|
|
NM_001164508.2(NEB):c.4507-1G>A
|
rs2154185810
|
|
NM_001164508.2(NEB):c.4507-2A>C
|
rs1575668113
|
|
NM_001164508.2(NEB):c.4507-2A>G
|
rs1575668113
|
|
NM_001164508.2(NEB):c.4611+1G>A
|
rs1233792020
|
|
NM_001164508.2(NEB):c.4719+2T>A
|
|
|
NM_001164508.2(NEB):c.498_507+18del
|
|
|
NM_001164508.2(NEB):c.5031+2T>C
|
rs2154178700
|
|
NM_001164508.2(NEB):c.507+2T>C
|
|
|
NM_001164508.2(NEB):c.508-1G>A
|
|
|
NM_001164508.2(NEB):c.5239-1G>A
|
|
|
NM_001164508.2(NEB):c.5451+1G>T
|
|
|
NM_001164508.2(NEB):c.5451+2_5451+11del
|
rs1553487838
|
|
NM_001164508.2(NEB):c.5452-1G>A
|
rs2154172894
|
|
NM_001164508.2(NEB):c.5763+1G>A
|
rs2154172204
|
|
NM_001164508.2(NEB):c.5764-2A>G
|
|
|
NM_001164508.2(NEB):c.6075+2T>G
|
rs2154157623
|
|
NM_001164508.2(NEB):c.612+1G>A
|
rs1202331107
|
|
NM_001164508.2(NEB):c.613-1G>A
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-1G>C
|
rs767693366
|
|
NM_001164508.2(NEB):c.613-2A>G
|
rs752893483
|
|
NM_001164508.2(NEB):c.6183+1G>A
|
rs557870969
|
|
NM_001164508.2(NEB):c.6183+1G>T
|
|
|
NM_001164508.2(NEB):c.6184-1G>A
|
rs2154149413
|
|
NM_001164508.2(NEB):c.6915+1G>A
|
|
|
NM_001164508.2(NEB):c.717+1G>A
|
rs1577833924
|
|
NM_001164508.2(NEB):c.718-1G>A
|
|
|
NM_001164508.2(NEB):c.7432-1G>A
|
rs2154122716
|
|
NM_001164508.2(NEB):c.7536+1G>A
|
|
|
NM_001164508.2(NEB):c.822+1G>A
|
rs2099762097
|
|
NM_001164508.2(NEB):c.8265+1G>A
|
rs1131691547
|
|
NM_001164508.2(NEB):c.8265+1G>T
|
|
|
NM_001164508.2(NEB):c.8373+1G>A
|
rs2154112865
|
|
NM_001164508.2(NEB):c.8374-1G>A
|
rs1180407562
|
|
NM_001164508.2(NEB):c.8686-2A>G
|
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001164508.2(NEB):c.8890-1G>A
|
|
|
NM_001164508.2(NEB):c.8994+1G>A
|
rs2098817648
|
|
NM_001164508.2(NEB):c.8995-1G>C
|
|
|
NM_001164508.2(NEB):c.9102+1G>A
|
rs143644938
|
|
NM_001164508.2(NEB):c.9415-1G>A
|
|
|
NM_001164508.2(NEB):c.9723+1G>A
|
rs113803601
|
|
NM_001164508.2(NEB):c.9724-1G>A
|
rs1553934586
|
|
NM_001164508.2(NEB):c.9831+1G>A
|
rs1553933986
|
|
NM_001271208.1(NEB):c.7291G>A
|
rs767302772
|
|
NM_006063.3(KLHL41):c.1561_1562+2del
|
|
|
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
|
|
|
NM_152263.4(TPM3):c.243+1G>A
|
|
|
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)
|
rs1571418855
|
|
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
|
|
|
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)
|
rs121964853
|
|
NM_152263.4(TPM3):c.43G>C (p.Asp15His)
|
rs1553251644
|
|
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)
|
rs2148295444
|
|
NM_152263.4(TPM3):c.642+2T>C
|
|
|