NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp)
|
rs387907338
|
0.00001
|
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
0.00001
|
NM_001458.5(FLNC):c.4738-1G>A
|
rs1808678197
|
0.00001
|
NM_001458.5(FLNC):c.5199+1G>T
|
rs1465588989
|
0.00001
|
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
|
|
|
NC_000007.13:g.(?_128475370)_(128478867_?)del
|
|
|
NC_000007.13:g.(?_128480199)_(128481774_?)del
|
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
NM_001267550.2(TTN):c.104092_104103delinsGAAGCTTT (p.Arg34698fs)
|
rs1689596670
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr)
|
rs281864928
|
|
NM_001267550.2(TTN):c.2224del (p.Ser742fs)
|
rs2093148818
|
|
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
|
rs1560689563
|
|
NM_001267550.2(TTN):c.46344del (p.Ile15448_Ile15449insTer)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.48160+1G>A
|
rs779498825
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
NM_001267550.2(TTN):c.52694_52695del (p.His17565fs)
|
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.58368dup (p.Tyr19457fs)
|
rs2050860445
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.69421_69422insAAAAG (p.Gly23141fs)
|
rs1247353236
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
NM_001267550.2(TTN):c.79599_79621del (p.Glu26533fs)
|
rs1312613088
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.826C>T (p.Gln276Ter)
|
rs2154358498
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.91615_91616dup (p.Gly30541fs)
|
rs1559187287
|
|
NM_001267550.2(TTN):c.92671G>T (p.Glu30891Ter)
|
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro)
|
rs587780495
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001458.5(FLNC):c.1047+1G>A
|
rs762493013
|
|
NM_001458.5(FLNC):c.1047+1G>T
|
rs762493013
|
|
NM_001458.5(FLNC):c.1411+1G>T
|
rs2128934545
|
|
NM_001458.5(FLNC):c.1548_1549+2del
|
rs763330423
|
|
NM_001458.5(FLNC):c.1549+1G>A
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
NM_001458.5(FLNC):c.1676+1G>A
|
rs111452612
|
|
NM_001458.5(FLNC):c.1814-1G>A
|
|
|
NM_001458.5(FLNC):c.2007+1G>A
|
|
|
NM_001458.5(FLNC):c.2265+1G>A
|
rs1585157354
|
|
NM_001458.5(FLNC):c.2550+1G>C
|
|
|
NM_001458.5(FLNC):c.2550+2T>C
|
rs113972676
|
|
NM_001458.5(FLNC):c.2811+1G>T
|
rs2128936028
|
|
NM_001458.5(FLNC):c.2929+2_2929+7del
|
rs2128936119
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001458.5(FLNC):c.352+1G>T
|
|
|
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)
|
rs773481064
|
|
NM_001458.5(FLNC):c.3964+1G>A
|
rs1808557594
|
|
NM_001458.5(FLNC):c.3964+1G>T
|
rs1808557594
|
|
NM_001458.5(FLNC):c.4127+1G>A
|
|
|
NM_001458.5(FLNC):c.4128-1G>C
|
|
|
NM_001458.5(FLNC):c.4128-2_4128-1del
|
rs1808585056
|
|
NM_001458.5(FLNC):c.4288+1G>A
|
rs2128937065
|
|
NM_001458.5(FLNC):c.4288+2T>G
|
|
|
NM_001458.5(FLNC):c.4457-1G>A
|
rs1404524040
|
|
NM_001458.5(FLNC):c.4580+1G>A
|
|
|
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp)
|
rs1427917546
|
|
NM_001458.5(FLNC):c.46dup (p.Asp16fs)
|
|
|
NM_001458.5(FLNC):c.4920_4927+6del
|
|
|
NM_001458.5(FLNC):c.4927+2T>C
|
|
|
NM_001458.5(FLNC):c.4927+2T>G
|
rs2128937680
|
|
NM_001458.5(FLNC):c.4928-1G>C
|
|
|
NM_001458.5(FLNC):c.4951+2T>C
|
rs1585164316
|
|
NM_001458.5(FLNC):c.4952-2A>T
|
rs774945928
|
|
NM_001458.5(FLNC):c.5199+1G>C
|
rs1465588989
|
|
NM_001458.5(FLNC):c.5398+1G>C
|
rs1808761665
|
|
NM_001458.5(FLNC):c.5399-1G>A
|
|
|
NM_001458.5(FLNC):c.5399-2A>C
|
rs2128938204
|
|
NM_001458.5(FLNC):c.5540-2A>G
|
rs111477195
|
|
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro)
|
rs2128938435
|
|
NM_001458.5(FLNC):c.5842+1G>A
|
rs2128938502
|
|
NM_001458.5(FLNC):c.5842+2T>G
|
rs2128938503
|
|
NM_001458.5(FLNC):c.5843-2A>G
|
rs1808866340
|
|
NM_001458.5(FLNC):c.602-2A>C
|
|
|
NM_001458.5(FLNC):c.6202_6208+11del
|
|
|
NM_001458.5(FLNC):c.6209-1G>C
|
|
|
NM_001458.5(FLNC):c.6362-1G>T
|
rs1808924231
|
|
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro)
|
rs762680314
|
|
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)
|
rs867808948
|
|
NM_001458.5(FLNC):c.699+1G>A
|
rs1562991776
|
|
NM_001458.5(FLNC):c.6997+1G>A
|
|
|
NM_001458.5(FLNC):c.6997+1G>T
|
rs1585169973
|
|
NM_001458.5(FLNC):c.7384+2T>C
|
rs112941619
|
|
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)
|
rs1809086992
|
|
NM_001458.5(FLNC):c.7562-1G>A
|
rs2128940335
|
|
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)
|
|
|
NM_001458.5(FLNC):c.7780+1G>A
|
rs1563005607
|
|
NM_001458.5(FLNC):c.7780+1G>C
|
rs1563005607
|
|
NM_001458.5(FLNC):c.7780+1G>T
|
|
|
NM_001458.5(FLNC):c.7780+2T>A
|
|
|
NM_001458.5(FLNC):c.7780+2T>C
|
rs1809110247
|
|
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)
|
|
|
NM_001458.5(FLNC):c.850+1G>A
|
rs1808146842
|
|
NM_001458.5(FLNC):c.850+1G>T
|
rs1808146842
|
|
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)
|
rs121908461
|
|
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)
|
rs121908457
|
|
NM_007078.3(LDB3):c.321+1G>A
|
|
|
NM_018834.6(MATR3):c.254C>G (p.Ser85Cys)
|
rs121434591
|
|
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)
|
rs1708139265
|
|