NM_004320.6(ATP2A1):c.663C>G (p.Gly221=)
|
rs113803159
|
0.00468
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_002693.3(POLG):c.2481-7C>T
|
rs2307448
|
0.00307
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=)
|
rs35654397
|
0.00236
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)
|
rs138769395
|
0.00232
|
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=)
|
rs56329646
|
0.00231
|
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=)
|
rs149172723
|
0.00230
|
NM_003179.3(SYP):c.687C>T (p.Ala229=)
|
rs201427270
|
0.00227
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
NM_015295.3(SMCHD1):c.424+10C>T
|
rs201631086
|
0.00225
|
NM_005506.4(SCARB2):c.445G>A (p.Val149Met)
|
rs147159813
|
0.00217
|
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=)
|
rs61757111
|
0.00215
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)
|
rs370286749
|
0.00214
|
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile)
|
rs72677232
|
0.00202
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)
|
rs141235641
|
0.00191
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)
|
rs36021462
|
0.00178
|
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr)
|
rs139633601
|
0.00172
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_004817.4(TJP2):c.185C>T (p.Thr62Met)
|
rs138241615
|
0.00168
|
NM_201384.3(PLEC):c.2551G>A (p.Val851Met)
|
rs200647397
|
0.00164
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile)
|
rs190470017
|
0.00158
|
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)
|
rs111671438
|
0.00153
|
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=)
|
rs146028040
|
0.00147
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=)
|
rs190336010
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_181882.3(PRX):c.1574T>C (p.Val525Ala)
|
rs149715830
|
0.00136
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)
|
rs142736845
|
0.00133
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
NM_020451.3(SELENON):c.729G>A (p.Pro243=)
|
rs139020143
|
0.00131
|
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=)
|
rs61736168
|
0.00127
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)
|
rs142558977
|
0.00126
|
NM_014467.3(SRPX2):c.840G>A (p.Ala280=)
|
rs139377205
|
0.00118
|
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys)
|
rs72648958
|
0.00116
|
NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
|
rs148453034
|
0.00116
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys)
|
rs201213901
|
0.00115
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro)
|
rs72648930
|
0.00109
|
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)
|
rs56402642
|
0.00109
|
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)
|
rs202106192
|
0.00108
|
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)
|
rs201767727
|
0.00108
|
NM_000478.6(ALPL):c.818C>T (p.Thr273Met)
|
rs148405563
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met)
|
rs145956175
|
0.00105
|
NM_003919.3(SGCE):c.606A>G (p.Thr202=)
|
rs148979783
|
0.00105
|
NM_005045.4(RELN):c.474-7T>C
|
rs55693709
|
0.00105
|
NM_201384.3(PLEC):c.2844C>T (p.Pro948=)
|
rs200482255
|
0.00105
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala)
|
rs145565705
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_014363.6(SACS):c.9852A>G (p.Thr3284=)
|
rs147506904
|
0.00099
|
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=)
|
rs370580872
|
0.00098
|
NM_000209.4(PDX1):c.543C>T (p.Val181=)
|
rs75498935
|
0.00097
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile)
|
rs183245562
|
0.00093
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro)
|
rs745594874
|
0.00093
|
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=)
|
rs144242254
|
0.00093
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=)
|
rs144813907
|
0.00088
|
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr)
|
rs184643087
|
0.00088
|
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)
|
rs150508296
|
0.00088
|
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met)
|
rs201437752
|
0.00086
|
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=)
|
rs181299250
|
0.00086
|
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala)
|
rs148634904
|
0.00086
|
NM_014363.6(SACS):c.1917A>G (p.Ala639=)
|
rs138457742
|
0.00084
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=)
|
rs200741156
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_006946.4(SPTBN2):c.157+5G>A
|
rs150159444
|
0.00081
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
NM_201384.3(PLEC):c.2478C>T (p.Asp826=)
|
rs202135215
|
0.00080
|
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile)
|
rs56130023
|
0.00079
|
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=)
|
rs187180708
|
0.00079
|
NM_005670.4(EPM2A):c.24G>A (p.Val8=)
|
rs587780938
|
0.00077
|
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr)
|
rs143155918
|
0.00077
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=)
|
rs115736276
|
0.00076
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_020822.3(KCNT1):c.942C>T (p.Thr314=)
|
rs144766991
|
0.00075
|
NM_000193.4(SHH):c.1078C>T (p.Leu360=)
|
rs191903572
|
0.00074
|
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg)
|
rs200594798
|
0.00073
|
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val)
|
rs55725279
|
0.00071
|
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr)
|
rs188878341
|
0.00071
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=)
|
rs146839867
|
0.00069
|
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp)
|
rs200287703
|
0.00069
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser)
|
rs77029288
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)
|
rs56142348
|
0.00066
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_000217.3(KCNA1):c.611G>A (p.Arg204His)
|
rs2229000
|
0.00063
|
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr)
|
rs144814658
|
0.00063
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=)
|
rs7229488
|
0.00063
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His)
|
rs191539637
|
0.00055
|
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=)
|
rs373646325
|
0.00055
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=)
|
rs199879193
|
0.00051
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_201384.3(PLEC):c.963C>T (p.Phe321=)
|
rs368425406
|
0.00048
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=)
|
rs149142237
|
0.00046
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys)
|
rs192152102
|
0.00044
|
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)
|
rs140250347
|
0.00044
|
NM_013382.7(POMT2):c.1404A>G (p.Lys468=)
|
rs150491326
|
0.00043
|
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=)
|
rs202116866
|
0.00043
|
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=)
|
rs72648971
|
0.00042
|
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg)
|
rs146970027
|
0.00041
|
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=)
|
rs72648212
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_030665.4(RAI1):c.1941C>T (p.Ser647=)
|
rs140198185
|
0.00041
|
NM_130837.3(OPA1):c.2421G>T (p.Leu807=)
|
rs148047706
|
0.00041
|
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=)
|
rs372945746
|
0.00040
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)
|
rs35821434
|
0.00040
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
NM_000388.4(CASR):c.2064C>T (p.Phe688=)
|
rs150869744
|
0.00037
|
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=)
|
rs375251871
|
0.00037
|
NM_001083962.2(TCF4):c.790-9T>C
|
rs373434281
|
0.00036
|
NM_006946.4(SPTBN2):c.1719C>T (p.His573=)
|
rs148207416
|
0.00036
|
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg)
|
rs72648205
|
0.00035
|
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=)
|
rs371988852
|
0.00035
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
|
rs201200430
|
0.00034
|
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=)
|
rs138330966
|
0.00034
|
NM_001267550.2(TTN):c.156C>T (p.Pro52=)
|
rs72647842
|
0.00032
|
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=)
|
rs184863287
|
0.00032
|
NM_001267550.2(TTN):c.26019C>T (p.His8673=)
|
rs370266918
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_201384.3(PLEC):c.174+10G>A
|
rs181850748
|
0.00030
|
NM_000337.6(SGCD):c.510G>A (p.Glu170=)
|
rs368838376
|
0.00029
|
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr)
|
rs77710085
|
0.00029
|
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=)
|
rs61757108
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=)
|
rs72677223
|
0.00028
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=)
|
rs369223412
|
0.00026
|
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=)
|
rs373206096
|
0.00026
|
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=)
|
rs142424896
|
0.00026
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=)
|
rs371031259
|
0.00025
|
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr)
|
rs142180002
|
0.00024
|
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=)
|
rs375448572
|
0.00024
|
NM_004006.3(DMD):c.9165G>A (p.Thr3055=)
|
rs137905486
|
0.00024
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=)
|
rs372635204
|
0.00023
|
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)
|
rs144434028
|
0.00023
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
NM_001378120.1(MBD5):c.276A>G (p.Ala92=)
|
rs141855494
|
0.00022
|
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln)
|
rs63751100
|
0.00022
|
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)
|
rs372256096
|
0.00022
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
NM_001165963.4(SCN1A):c.694+10A>G
|
rs373417440
|
0.00019
|
NM_004006.3(DMD):c.4072-3T>C
|
rs751657094
|
0.00019
|
NM_020822.3(KCNT1):c.474G>A (p.Ser158=)
|
rs139076605
|
0.00019
|
NM_032409.3(PINK1):c.858G>A (p.Pro286=)
|
rs148144773
|
0.00019
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=)
|
rs201211875
|
0.00019
|
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr)
|
rs72646853
|
0.00018
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_000371.4(TTR):c.384C>T (p.Ala128=)
|
rs143906738
|
0.00015
|
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln)
|
rs115150240
|
0.00015
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
NM_000548.5(TSC2):c.4493+7C>A
|
rs199943270
|
0.00014
|
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg)
|
rs553548392
|
0.00014
|
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=)
|
rs369436545
|
0.00014
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His)
|
rs372241697
|
0.00013
|
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser)
|
rs72648240
|
0.00013
|
NM_006790.3(MYOT):c.342C>T (p.Ser114=)
|
rs34593399
|
0.00013
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)
|
rs141133453
|
0.00012
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp)
|
rs201278290
|
0.00012
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=)
|
rs367821526
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.66051G>A (p.Val22017=)
|
rs587780981
|
0.00011
|
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp)
|
rs761806977
|
0.00011
|
NM_201384.3(PLEC):c.2064G>A (p.Pro688=)
|
rs374590279
|
0.00011
|
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=)
|
rs369503828
|
0.00010
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
NM_001077365.2(POMT1):c.1149C>T (p.His383=)
|
rs202121299
|
0.00009
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=)
|
rs138426138
|
0.00009
|
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=)
|
rs559510708
|
0.00009
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met)
|
rs398123617
|
0.00007
|
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=)
|
rs374228930
|
0.00007
|
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=)
|
rs375398118
|
0.00007
|
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=)
|
rs370249358
|
0.00006
|
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His)
|
rs368834365
|
0.00006
|
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln)
|
rs199531140
|
0.00006
|
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His)
|
rs72677245
|
0.00006
|
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=)
|
rs72677247
|
0.00006
|
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=)
|
rs369943756
|
0.00005
|
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)
|
rs189230866
|
0.00004
|
NM_000388.4(CASR):c.60C>T (p.Tyr20=)
|
rs201564143
|
0.00004
|
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=)
|
rs376820575
|
0.00004
|
NM_004393.6(DAG1):c.219C>T (p.Val73=)
|
rs145165301
|
0.00004
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=)
|
rs771190188
|
0.00003
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_014363.6(SACS):c.6240T>C (p.Val2080=)
|
rs550680855
|
0.00002
|
NM_000051.4(ATM):c.8987+3G>A
|
rs56360226
|
0.00001
|
NM_000451.4(SHOX):c.702G>A (p.Ala234=)
|
rs576542942
|
0.00001
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)
|
rs200730202
|
0.00001
|
NM_000451.4(SHOX):c.144G>A (p.Glu48=)
|
rs750638027
|
|
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=)
|
rs761684626
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)
|
rs45588436
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro)
|
rs373234419
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_006790.3(MYOT):c.1275A>G (p.Ala425=)
|
rs140678912
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_032119.4(ADGRV1):c.8730+9_8730+10del
|
rs780180737
|
|
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del)
|
rs863224140
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)
|
rs376112916
|
|