ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy

Included ClinVar conditions (317):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28989
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_015602.4(TOR1AIP1):c.554-4G>A rs2245425 0.58997
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_001164508.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435 0.07143
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_014165.4(NDUFAF4):c.*1447T>C rs116939090 0.02639
NM_002496.4(NDUFS8):c.*40A>G rs61329983 0.02403
NM_139343.2(BIN1):c.*501G>A rs77059199 0.02237
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_001025389.2(AMPD3):c.*287T>C rs76318574 0.01748
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_001256545.2(MEGF10):c.*357T>G rs78940206 0.01270
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_001256545.2(MEGF10):c.609C>T (p.Cys203=) rs113794264 0.00845
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_175614.5(NDUFA11):c.48C>T (p.Thr16=) rs146562956 0.00828
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988 0.00827
NM_001164508.2(NEB):c.*212T>C rs1061317 0.00811
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_004544.4(NDUFA10):c.*647C>T rs116254382 0.00794
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_007103.3(NDUFV1):c.-74T>C rs373383800 0.00728
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_004544.4(NDUFA10):c.*1453G>A rs192964209 0.00706
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_001256545.2(MEGF10):c.*1312G>A rs76555555 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_003283.6(TNNT1):c.310-14T>C rs115663668 0.00636
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_005006.7(NDUFS1):c.-75A>G rs138818421 0.00612
NM_001256545.2(MEGF10):c.*2549G>C rs75434042 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_001377299.1(NDUFS2):c.1212+7A>G rs36233987 0.00606
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_001377299.1(NDUFS2):c.514+11C>T rs76309459 0.00593
NM_001256545.2(MEGF10):c.*1296T>A rs55857193 0.00591
NM_001256545.2(MEGF10):c.*2485G>T rs141495648 0.00589
NM_001256545.2(MEGF10):c.*4C>G rs73783802 0.00588
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His) rs78847357 0.00577
NM_001256545.2(MEGF10):c.489C>T (p.Ile163=) rs34649270 0.00577
NM_005876.5(SPEG):c.7810C>T (p.Leu2604Phe) rs77314619 0.00575
NM_001256545.2(MEGF10):c.*3175G>A rs76059053 0.00574
NM_001256545.2(MEGF10):c.*933C>G rs17164927 0.00571
NM_001256545.2(MEGF10):c.*2098G>A rs79556392 0.00554
NM_001025389.2(AMPD3):c.*75C>T rs59351157 0.00550
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_001256545.2(MEGF10):c.*2066A>G rs112337118 0.00522
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_001042631.3(SDHAF1):c.*229C>T rs144661239 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_001256545.2(MEGF10):c.2757C>T (p.Asn919=) rs36061366 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001256545.2(MEGF10):c.*1028G>A rs186303123 0.00488
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_001256545.2(MEGF10):c.*3566G>T rs139305981 0.00478
NM_001025389.2(AMPD3):c.426+8G>A rs150321693 0.00477
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_004544.3(NDUFA10):c.-92C>T rs559797625 0.00474
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001267550.2(TTN):c.*587T>A rs114788736 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_001164508.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119 0.00460
NM_004544.3(NDUFA10):c.-93G>T rs577432343 0.00460
NM_005006.7(NDUFS1):c.*341A>G rs150214409 0.00460
NM_004168.4(SDHA):c.*249T>C rs189989110 0.00459
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_004550.5(NDUFS2):c.-223C>G rs74124661 0.00446
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381 0.00446
NM_004550.5(NDUFS2):c.-298C>G rs41270845 0.00436
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_000334.4(SCN4A):c.*129G>T rs140026321 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_004281.4(BAG3):c.-294A>C rs544280047 0.00385
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_138638.5(CFL2):c.*1036G>A rs150492527 0.00379
NM_014165.4(NDUFAF4):c.*482A>G rs56240093 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_005006.7(NDUFS1):c.*426T>G rs114402169 0.00369
NM_005006.7(NDUFS1):c.1062C>T (p.Leu354=) rs112026097 0.00369
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_001164508.2(NEB):c.1413C>T (p.Phe471=) rs112958786 0.00363
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_004553.6(NDUFS6):c.*46C>T rs145407020 0.00336
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001377299.1(NDUFS2):c.*108A>T rs191955041 0.00316
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_017547.4(FOXRED1):c.*432T>G rs185024577 0.00304
NM_003283.6(TNNT1):c.*110T>C rs147109223 0.00303
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001267550.2(TTN):c.*1015A>G rs72629798 0.00294
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_003283.6(TNNT1):c.279A>G (p.Glu93=) rs34313388 0.00292
NM_004544.4(NDUFA10):c.*925C>G rs149563558 0.00292
NM_005006.7(NDUFS1):c.421-7A>G rs192949406 0.00292
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_025152.3(NUBPL):c.*301G>T rs189475622 0.00290
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_004281.4(BAG3):c.-293T>A rs557535632 0.00284
NM_004544.4(NDUFA10):c.*1943A>G rs148829605 0.00283
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_199069.1(NDUFAF3):c.-241C>T rs573066357 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_001256545.2(MEGF10):c.*3615G>A rs149991413 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001256545.2(MEGF10):c.303C>T (p.Ser101=) rs77203884 0.00260
NM_014165.4(NDUFAF4):c.*782T>C rs190211537 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_017547.3(FOXRED1):c.-163G>C rs552937899 0.00259
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_000334.4(SCN4A):c.*1324T>C rs544883913 0.00256
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_001370466.1(NOD2):c.*873C>T rs373812846 0.00255
NM_004168.4(SDHA):c.*133G>C rs193112615 0.00255
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001256545.2(MEGF10):c.*2519G>A rs187089787 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_004544.4(NDUFA10):c.*546G>A rs192485848 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001025389.2(AMPD3):c.*1245G>A rs114908387 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NC_000002.12:g.26244826T>C rs749979964 0.00249
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_001256545.2(MEGF10):c.*601C>T rs146027479 0.00246
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001256545.2(MEGF10):c.1500G>A (p.Gln500=) rs146075981 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_014165.4(NDUFAF4):c.*1053A>G rs74905648 0.00243
NM_001256545.2(MEGF10):c.*1387A>G rs143870753 0.00242
NM_001256545.2(MEGF10):c.-18-11C>T rs138523651 0.00240
NM_020451.3(SELENON):c.550G>C (p.Ala184Pro) rs199742668 0.00240
NM_001164508.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_004551.3(NDUFS3):c.475G>C (p.Val159Leu) rs148331180 0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001256545.2(MEGF10):c.*192A>T rs151022976 0.00235
NM_001256545.2(MEGF10):c.*52G>T rs182533165 0.00235
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825 0.00233
NM_014165.4(NDUFAF4):c.*294T>G rs555318888 0.00233
NM_152263.4(TPM3):c.*656C>T rs12064261 0.00233
NM_001377299.1(NDUFS2):c.866+8G>A rs142594036 0.00231
NM_001256545.2(MEGF10):c.2463C>T (p.Pro821=) rs139929890 0.00229
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001382567.1(STIM1):c.1634+269C>G rs139558513 0.00229
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_001256545.2(MEGF10):c.2654G>A (p.Gly885Glu) rs116500162 0.00227
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_004550.5(NDUFS2):c.-346G>A rs189165754 0.00223
NM_001025389.2(AMPD3):c.*1221T>C rs139597662 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_004544.4(NDUFA10):c.*372C>T rs143693330 0.00222
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_004281.4(BAG3):c.-95G>A rs111750619 0.00218
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073 0.00215
NM_004544.4(NDUFA10):c.*1161C>T rs184925264 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_001025389.2(AMPD3):c.*327G>C rs146002789 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001256545.2(MEGF10):c.3003C>T (p.Ser1001=) rs35159176 0.00207
NM_199069.1(NDUFAF3):c.-126G>C rs75749590 0.00207
NM_199069.1(NDUFAF3):c.-127G>C rs74601553 0.00207
NM_001164508.2(NEB):c.20466+11A>G rs181826071 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_004544.4(NDUFA10):c.*632G>A rs189306598 0.00206
NM_004544.4(NDUFA10):c.-38T>G rs374970309 0.00206
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_004550.5(NDUFS2):c.-20C>T rs201554004 0.00203
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_175614.4(NDUFA11):c.-83G>C rs562075121 0.00199
NM_021074.5(NDUFV2):c.-30G>T rs139650842 0.00198
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960 0.00196
NM_001267550.2(TTN):c.34307A>G (p.Lys11436Arg) rs568554504 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_001164508.2(NEB):c.11076+12A>G rs201250579 0.00186
NM_000257.4(MYH7):c.-62C>T rs45566639 0.00185
NM_004544.4(NDUFA10):c.*3141C>T rs144864637 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_021074.5(NDUFV2):c.-13A>G rs369562850 0.00182
NM_152393.4(KLHL40):c.1762G>A (p.Glu588Lys) rs201856772 0.00182
NM_000540.3(RYR1):c.9555-9G>A rs149569999 0.00180
NM_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg) rs140563851 0.00178
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_004550.5(NDUFS2):c.-218G>A rs563669084 0.00175
NM_016013.4(NDUFAF1):c.-205G>C rs190265352 0.00175
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_005006.7(NDUFS1):c.611T>C (p.Met204Thr) rs148544177 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser) rs75783175 0.00171
NM_014165.4(NDUFAF4):c.*1375G>T rs138003168 0.00171
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_004544.4(NDUFA10):c.*2242T>C rs111969519 0.00170
NM_152263.4(TPM3):c.*3819G>A rs190553185 0.00168
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_139343.2(BIN1):c.-314G>C rs531361957 0.00163
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183 0.00158
NM_001025389.2(AMPD3):c.1569T>G (p.Phe523Leu) rs146000615 0.00157
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001025389.2(AMPD3):c.-25C>T rs576679601 0.00150
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_004544.4(NDUFA10):c.*1198G>A rs143353868 0.00145
NM_152263.4(TPM3):c.*4095G>A rs559852699 0.00145
NM_001267550.2(TTN):c.85406C>G (p.Ser28469Cys) rs202040332 0.00144
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_005138.3(SCO2):c.-114G>C rs554814235 0.00142
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_005006.7(NDUFS1):c.*561T>C rs146538309 0.00141
NM_000540.3(RYR1):c.*135C>T rs188314477 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001256545.2(MEGF10):c.*2630A>G rs548781667 0.00138
NM_014165.4(NDUFAF4):c.491T>A (p.Phe164Tyr) rs201754378 0.00138
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_001256545.2(MEGF10):c.*2663T>C rs568875554 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001164508.2(NEB):c.19746T>C (p.Ala6582=) rs143456239 0.00136
NM_152263.4(TPM3):c.*5440A>C rs12064494 0.00136
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002488.4(NDUFA2):c.-50G>A rs143857164 0.00135
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_001164508.2(NEB):c.24874-8C>T rs200902944 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_000334.4(SCN4A):c.2854-5C>T rs374039266 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_004544.4(NDUFA10):c.*1879G>A rs143421241 0.00132
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=) rs146902993 0.00129
NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met) rs186992412 0.00129
NM_152263.4(TPM3):c.*5577C>T rs886045287 0.00129
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00126
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_000334.4(SCN4A):c.*552A>G rs533628539 0.00124
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_001103.4(ACTN2):c.*1969C>T rs753897286 0.00120
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_017547.4(FOXRED1):c.*159C>T rs570233921 0.00119
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_138638.5(CFL2):c.*1507C>T rs139087926 0.00118
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile) rs200947169 0.00117
NM_001256545.2(MEGF10):c.2857-8T>G rs201148765 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004544.4(NDUFA10):c.*1915G>A rs144590599 0.00117
NM_001025389.2(AMPD3):c.836A>G (p.Asn279Ser) rs144613367 0.00116
NM_001256545.2(MEGF10):c.1602C>T (p.Tyr534=) rs114704569 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00113
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333 0.00113
NM_005876.5(SPEG):c.4400G>A (p.Arg1467Gln) rs181222936 0.00113
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_032608.7(MYO18B):c.445A>G (p.Arg149Gly) rs116601609 0.00113
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=) rs372791798 0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_001164508.2(NEB):c.*57C>T rs566096042 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_024120.5(NDUFAF5):c.190G>A (p.Glu64Lys) rs147117631 0.00111
NM_032608.7(MYO18B):c.5239C>T (p.Arg1747Cys) rs200325801 0.00111
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_000334.4(SCN4A):c.*2170G>A rs569759069 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001025389.1(AMPD3):c.-200G>A rs180772894 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_014165.4(NDUFAF4):c.*459A>G rs560563894 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_001164508.2(NEB):c.13078C>G (p.Leu4360Val) rs761799512 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_016474.5(CCDC174):c.472C>T (p.Pro158Ser) rs145180886 0.00107
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_024120.5(NDUFAF5):c.1029A>G (p.Lys343=) rs146052819 0.00106
NM_000334.4(SCN4A):c.*2150C>A rs182791237 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001164508.2(NEB):c.21840+13A>C rs75515097 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_001267550.2(TTN):c.1776T>C (p.Asp592=) rs147081804 0.00100
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_000334.4(SCN4A):c.*2072G>A rs192346663 0.00099
NM_004544.4(NDUFA10):c.*3095A>G rs576198967 0.00099
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_004553.6(NDUFS6):c.*15C>T rs200445799 0.00096
NM_000183.2(HADHB):c.-124C>G rs575302805 0.00095
NM_001164508.2(NEB):c.3986A>C (p.Asp1329Ala) rs115986826 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.88485C>T (p.Leu29495=) rs371612136 0.00093
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_152263.4(TPM3):c.*4806A>C rs186291812 0.00093
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_018116.4(MSTO1):c.1059G>A (p.Met353Ile) rs149262326 0.00092
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_004544.4(NDUFA10):c.*2659A>C rs559550890 0.00091
NM_025152.3(NUBPL):c.*188T>C rs569141248 0.00091
NM_138638.5(CFL2):c.*541A>G rs144345993 0.00091
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_001256545.2(MEGF10):c.*164G>A rs187806833 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_003283.6(TNNT1):c.750+15C>T rs138664823 0.00086
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.88340C>G (p.Thr29447Arg) rs140201636 0.00083
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00083
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_021074.5(NDUFV2):c.546C>T (p.Asn182=) rs143576401 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_001025389.2(AMPD3):c.1080C>T (p.Asp360=) rs139511483 0.00081
NM_001256545.2(MEGF10):c.117-5_117-4insC rs538399152 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001377299.1(NDUFS2):c.959T>C (p.Val320Ala) rs144937332 0.00081
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_014165.4(NDUFAF4):c.*119T>C rs113099906 0.00081
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086 0.00081
NM_000334.4(SCN4A):c.*64G>A rs753971558 0.00080
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_001256545.2(MEGF10):c.1975+10G>A rs148814585 0.00080
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) rs200367429 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=) rs141107290 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872 0.00076
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_001025389.2(AMPD3):c.974A>G (p.Asn325Ser) rs147246880 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001377299.1(NDUFS2):c.628-12C>T rs202121443 0.00075
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001164508.2(NEB):c.5763+15C>T rs148455519 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_004544.4(NDUFA10):c.*3347C>T rs537694779 0.00072
NM_016013.4(NDUFAF1):c.215C>G (p.Thr72Ser) rs200472799 0.00072
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_014165.4(NDUFAF4):c.*690G>A rs181915821 0.00071
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) rs201412882 0.00071
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_024407.5(NDUFS7):c.*16C>T rs573586959 0.00069
NM_001256545.2(MEGF10):c.*3191A>T rs188780004 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_003289.4(TPM2):c.*194C>T rs561175276 0.00068
NM_004281.4(BAG3):c.*402T>C rs541591765 0.00068
NM_025152.3(NUBPL):c.*344T>C rs572496732 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_001025389.2(AMPD3):c.423C>T (p.Ala141=) rs117002871 0.00066
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) rs201886728 0.00066
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg) rs138217855 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088 0.00065
NM_002496.3(NDUFS8):c.-76C>T rs544094420 0.00065
NM_152263.4(TPM3):c.*2152C>T rs1363684144 0.00065
NM_001025389.2(AMPD3):c.1728C>T (p.Arg576=) rs150947905 0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_007103.4(NDUFV1):c.-45T>G rs373940385 0.00064
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_014165.4(NDUFAF4):c.*1642T>G rs150444958 0.00064
NM_025152.3(NUBPL):c.*1940A>C rs149945695 0.00064
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004544.4(NDUFA10):c.*1303C>T rs575940810 0.00063
NM_004544.4(NDUFA10):c.*2297T>G rs773090030 0.00063
NM_005876.5(SPEG):c.3700C>T (p.Arg1234Trp) rs55916864 0.00063
NM_017534.6(MYH2):c.3884G>A (p.Arg1295His) rs143341678 0.00063
NM_021074.4(NDUFV2):c.-94A>T rs552940397 0.00063
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser) rs376505442 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_015713.5(RRM2B):c.*1510T>C rs577176343 0.00062
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val) rs146361173 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp) rs201962257 0.00061
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00061
NM_138638.5(CFL2):c.*1759A>G rs539503694 0.00061
NM_001025389.2(AMPD3):c.283G>A (p.Asp95Asn) rs149433198 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_152263.4(TPM3):c.*3756C>A rs555633635 0.00060
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_001025389.2(AMPD3):c.1267-3C>T rs369778695 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_017534.6(MYH2):c.1587+5G>T rs192223842 0.00059
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.2682+7G>A rs201498416 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001164508.2(NEB):c.20835G>A (p.Pro6945=) rs186244044 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044 0.00058
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_001042631.3(SDHAF1):c.334C>T (p.Pro112Ser) rs78119534 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_005006.7(NDUFS1):c.*438C>T rs561980718 0.00057
NM_152263.4(TPM3):c.*999G>A rs565913061 0.00057
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115 0.00056
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.40634-9A>G rs373511249 0.00056
NM_001267550.2(TTN):c.68792G>A (p.Ser22931Asn) rs201567815 0.00056
NM_001267550.2(TTN):c.92362G>A (p.Gly30788Ser) rs199891245 0.00056
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) rs551975117 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_001164508.2(NEB):c.20956G>C (p.Asp6986His) rs150874422 0.00055
NM_001256545.2(MEGF10):c.*1094A>T rs547236825 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser) rs78592515 0.00054
NM_001164508.2(NEB):c.20654C>T (p.Ala6885Val) rs202209668 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_004544.4(NDUFA10):c.*1482C>G rs557576958 0.00054
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_020451.3(SELENON):c.427G>A (p.Glu143Lys) rs200958015 0.00054
NM_145064.3(STAC3):c.157G>A (p.Val53Met) rs141938531 0.00054
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser) rs201793080 0.00053
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_004370.6(COL12A1):c.3835+4A>G rs187358458 0.00053
NM_014165.4(NDUFAF4):c.*1671T>C rs182040819 0.00053
NM_016013.4(NDUFAF1):c.-165C>T rs561102841 0.00053
NM_017534.6(MYH2):c.2823G>T (p.Glu941Asp) rs138206136 0.00053
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001256545.2(MEGF10):c.259A>G (p.Met87Val) rs41298304 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002495.4(NDUFS4):c.469T>A (p.Ser157Thr) rs149482195 0.00052
NM_005006.7(NDUFS1):c.*151T>C rs533179154 0.00052
NM_017534.6(MYH2):c.5472+3G>T rs200691436 0.00052
NM_017534.6(MYH2):c.5820A>G (p.Glu1940=) rs140527143 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988 0.00051
NM_001164508.2(NEB):c.3468C>T (p.Val1156=) rs373258662 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_002495.4(NDUFS4):c.150A>G (p.Thr50=) rs142368721 0.00051
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00050
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_199069.2(NDUFAF3):c.*98A>G rs117051791 0.00050
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu) rs144107914 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_005006.7(NDUFS1):c.*938C>T rs780498090 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_025152.3(NUBPL):c.-13A>G rs754769393 0.00049
NM_001025389.2(AMPD3):c.885C>T (p.Ser295=) rs149271802 0.00048
NM_001164508.2(NEB):c.19315-10T>C rs201473873 0.00048
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_001164508.2(NEB):c.9047G>A (p.Arg3016Gln) rs373587647 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu) rs185711494 0.00048
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00048
NM_017534.6(MYH2):c.5003G>A (p.Arg1668Gln) rs143022667 0.00048
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001103.4(ACTN2):c.*551G>A rs566548706 0.00047
NM_001135254.2(PAX7):c.644G>A (p.Arg215His) rs200575057 0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_138638.5(CFL2):c.*281A>G rs761508275 0.00047
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*4302A>G rs886045298 0.00047
NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His) rs200045981 0.00047
NM_000334.4(SCN4A):c.8G>C (p.Arg3Thr) rs764134362 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001164508.2(NEB):c.1045A>C (p.Lys349Gln) rs369153778 0.00046
NM_001164508.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001267550.2(TTN):c.85516C>A (p.Gln28506Lys) rs201272728 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_014165.4(NDUFAF4):c.*1368A>G rs563778638 0.00046
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00046
NM_139343.3(BIN1):c.*22C>T rs200108564 0.00046
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val) rs372419267 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_014165.4(NDUFAF4):c.184C>T (p.Leu62=) rs78567928 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000334.4(SCN4A):c.951A>G (p.Ser317=) rs185246154 0.00044
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_004544.4(NDUFA10):c.*2149C>T rs570872300 0.00044
NM_006790.3(MYOT):c.*311A>T rs966703412 0.00044
NM_016013.4(NDUFAF1):c.855C>T (p.Thr285=) rs145122315 0.00044
NM_017534.6(MYH2):c.1898-3C>T rs370752980 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) rs200729207 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_152393.4(KLHL40):c.968T>G (p.Ile323Ser) rs146161469 0.00043
NM_199069.1(NDUFAF3):c.-363C>G rs760652685 0.00043
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_000334.4(SCN4A):c.*2085C>G rs756262968 0.00042
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364 0.00042
NM_001025389.2(AMPD3):c.1771G>A (p.Gly591Ser) rs142086203 0.00042
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
NM_001256545.2(MEGF10):c.-152A>G rs146523995 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr) rs762460746 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001377299.1(NDUFS2):c.1354+5G>A rs190184430 0.00042
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu) rs199702595 0.00042
NM_006063.3(KLHL41):c.1457C>T (p.Ser486Phe) rs373391330 0.00042
NM_014165.4(NDUFAF4):c.*1362C>T rs545168471 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_175614.5(NDUFA11):c.311G>T (p.Arg104Leu) rs199842745 0.00042
NM_000334.4(SCN4A):c.199A>G (p.Ile67Val) rs200834218 0.00041
NM_001036.6(RYR3):c.6835G>A (p.Val2279Met) rs41279210 0.00041
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_001042631.3(SDHAF1):c.*682A>T rs554739627 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
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_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_016013.4(NDUFAF1):c.-352C>T rs532681188 0.00041
NM_139343.3(BIN1):c.*303A>G rs766515815 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_001256545.2(MEGF10):c.669T>A (p.Asp223Glu) rs142221815 0.00040
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser) rs534339525 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_001377299.1(NDUFS2):c.1371A>G (p.Val457=) rs149953813 0.00040
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_017534.6(MYH2):c.332C>T (p.Ala111Val) rs140468333 0.00040
NM_017534.6(MYH2):c.4583G>A (p.Arg1528His) rs142934668 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_001164508.2(NEB):c.5503C>T (p.Arg1835Trp) rs199694315 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001256545.2(MEGF10):c.452G>A (p.Arg151Gln) rs78069165 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn) rs140655598 0.00039
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770 0.00039
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) rs149439760 0.00039
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_015713.5(RRM2B):c.*869G>T rs771055735 0.00039
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_032608.7(MYO18B):c.362C>G (p.Thr121Arg) rs372175819 0.00039
NM_152393.4(KLHL40):c.238G>C (p.Asp80His) rs144461124 0.00039
NM_000257.4(MYH7):c.3690C>T (p.Asp1230=) rs370750044 0.00038
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=) rs373597946 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327 0.00038
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_016013.4(NDUFAF1):c.-137C>T rs369431865 0.00038
NM_016013.4(NDUFAF1):c.368T>C (p.Val123Ala) rs151286131 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00037
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu) rs148581002 0.00037
NM_199069.2(NDUFAF3):c.342C>T (p.Ile114=) rs202104160 0.00037
NM_000183.3(HADHB):c.560A>G (p.Asn187Ser) rs138696018 0.00036
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=) rs200354336 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001164508.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882 0.00036
NM_001267550.2(TTN):c.*623G>A rs778009328 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_004544.4(NDUFA10):c.*1992C>T rs373034894 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_006790.3(MYOT):c.*372G>A rs1029781405 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr) rs146837138 0.00036
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000334.4(SCN4A):c.*1069G>A rs368616841 0.00035
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_001101362.3(KBTBD13):c.*1582C>T rs111882334 0.00035
NM_001164508.2(NEB):c.11078G>A (p.Arg3693His) rs368915047 0.00035
NM_001164508.2(NEB):c.20466+7G>A rs201684605 0.00035
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001256545.2(MEGF10):c.1622G>T (p.Arg541Leu) rs142664089 0.00035
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr) rs535815566 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_004551.3(NDUFS3):c.381+6T>C rs377579231 0.00035
NM_152263.4(TPM3):c.*6097G>T rs576691614 0.00035
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000334.4(SCN4A):c.*780G>T rs562146322 0.00034
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001101362.3(KBTBD13):c.205C>T (p.Arg69Trp) rs530722554 0.00034
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_001256545.2(MEGF10):c.*941A>G rs538168537 0.00034
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116 0.00034
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg) rs371580084 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile) rs137889316 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_025152.3(NUBPL):c.*1053G>A rs546991443 0.00034
NM_025152.3(NUBPL):c.*357C>G rs576520205 0.00034
NM_138638.5(CFL2):c.*738A>G rs188669360 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_178554.6(KY):c.884C>G (p.Ser295Cys) rs774464040 0.00034
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001164508.2(NEB):c.8125G>A (p.Val2709Ile) rs368637389 0.00033
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_004551.3(NDUFS3):c.*32G>A rs189495301 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_175614.5(NDUFA11):c.*59C>G rs191571307 0.00033
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_001164508.2(NEB):c.18742C>T (p.Pro6248Ser) rs189541265 0.00032
NM_001256545.2(MEGF10):c.1841-5T>C rs372378202 0.00032
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln) rs113542442 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00031
NM_000183.3(HADHB):c.1023G>T (p.Met341Ile) rs141484936 0.00031
NM_000183.3(HADHB):c.565G>A (p.Ala189Thr) rs143683481 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_001164508.2(NEB):c.6704A>C (p.His2235Pro) rs372800812 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004281.4(BAG3):c.-86G>A rs913687992 0.00031
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe) rs116980451 0.00031
NM_004544.3(NDUFA10):c.-87A>C rs886055827 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_016013.4(NDUFAF1):c.-293C>T rs760649120 0.00031
NM_017534.6(MYH2):c.878C>T (p.Thr293Ile) rs774544504 0.00031
NM_032608.7(MYO18B):c.619G>A (p.Glu207Lys) rs1196149636 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val) rs149586047 0.00031
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NC_000012.12:g.121626767C>T rs868966101 0.00030
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=) rs763783436 0.00030
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu) rs75086141 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_001025389.2(AMPD3):c.498G>A (p.Ala166=) rs147701905 0.00029
NM_001164508.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.20162T>C (p.Leu6721Pro) rs111517514 0.00029
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001267550.2(TTN):c.*968T>C rs772669140 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met) rs184923756 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_017534.6(MYH2):c.3820C>T (p.Arg1274Trp) rs191102801 0.00029
NM_020451.3(SELENON):c.716G>A (p.Arg239His) rs199709671 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_175614.5(NDUFA11):c.138G>A (p.Pro46=) rs138889960 0.00029
NM_199069.2(NDUFAF3):c.271-10C>G rs200789117 0.00029
NC_000012.12:g.121626856G>C rs1226204743 0.00028
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000183.3(HADHB):c.*43C>T rs192988436 0.00028
NM_000183.3(HADHB):c.640G>A (p.Val214Ile) rs149693931 0.00028
NM_000334.4(SCN4A):c.1845+7A>C rs141021600 0.00028
NM_000334.4(SCN4A):c.1926G>T (p.Trp642Cys) rs781412058 0.00028
NM_001025389.2(AMPD3):c.427-13C>T rs374707086 0.00028
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=) rs199730497 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.28463-14G>A rs200917885 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.40903G>A (p.Ala13635Thr) rs191699632 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_004553.6(NDUFS6):c.257C>T (p.Ala86Val) rs192286856 0.00028
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_198271.5(LMOD3):c.506C>T (p.Thr169Met) rs181564355 0.00028
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp) rs141618437 0.00027
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile) rs367988986 0.00027
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=) rs368263333 0.00027
NM_001025389.2(AMPD3):c.*1520A>G rs548862296 0.00027
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.8024A>G (p.Asp2675Gly) rs183354017 0.00027
NM_001256545.2(MEGF10):c.*3770A>G rs961838268 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) rs138213139 0.00027
NM_004544.4(NDUFA10):c.*679A>G rs374065697 0.00027
NM_005876.5(SPEG):c.4861C>T (p.Arg1621Cys) rs55646900 0.00027
NM_017547.4(FOXRED1):c.*374T>G rs576196293 0.00027
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr) rs375717740 0.00027
NM_138638.5(CFL2):c.*1810T>A rs763550520 0.00027
NC_000012.12:g.121626857C>T rs782531427 0.00026
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086 0.00026
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met) rs377277110 0.00026
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met) rs200274258 0.00026
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000540.3(RYR1):c.7102C>G (p.Leu2368Val) rs139498212 0.00026
NM_001025389.2(AMPD3):c.1513A>G (p.Ile505Val) rs141457480 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183 0.00026
NM_001164508.2(NEB):c.3007G>C (p.Val1003Leu) rs149471462 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.27593A>G (p.Gln9198Arg) rs368297438 0.00026
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) rs370498307 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.78446C>G (p.Thr26149Ser) rs191263181 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001378030.1(CCDC78):c.863G>A (p.Arg288His) rs200154277 0.00026
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_004369.4(COL6A3):c.9494-2A>G rs142546062 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_015713.5(RRM2B):c.*3266G>T rs746260787 0.00026
NM_017534.6(MYH2):c.1082A>T (p.His361Leu) rs139478967 0.00026
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00026
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu) rs148942084 0.00026
NM_138638.5(CFL2):c.*995T>C rs749572493 0.00026
NM_138638.5(CFL2):c.169G>A (p.Val57Met) rs200536303 0.00026
NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr) rs200273352 0.00026
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_000334.4(SCN4A):c.*755G>A rs886053243 0.00025
NM_000334.4(SCN4A):c.845G>A (p.Arg282His) rs200615763 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_001101362.3(KBTBD13):c.*684C>T rs549339931 0.00025
NM_001164508.2(NEB):c.18948T>A (p.Asp6316Glu) rs370206339 0.00025
NM_001164508.2(NEB):c.19157A>G (p.Glu6386Gly) rs200056050 0.00025
NM_001256545.2(MEGF10):c.*1170G>A rs533979647 0.00025
NM_001256545.2(MEGF10):c.*3267G>C rs750922449 0.00025
NM_001267550.2(TTN):c.*59G>A rs72629795 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala) rs374132023 0.00025
NM_001848.3(COL6A1):c.957+6C>T rs374926748 0.00025
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala) rs55997127 0.00025
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) rs150880212 0.00025
NM_005876.5(SPEG):c.1301G>A (p.Arg434His) rs924342297 0.00025
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_139343.3(BIN1):c.*418C>T rs779551565 0.00025
NM_152263.4(TPM3):c.*4443G>T rs139123540 0.00025
NM_213720.3(CHCHD10):c.409+1G>A rs367684804 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000334.4(SCN4A):c.*873G>C rs540759411 0.00024
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001267550.2(TTN):c.*141T>G rs781617834 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.48461-11A>G rs371040291 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_001927.4(DES):c.*280G>A rs925513578 0.00024
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val) rs369104842 0.00024
NM_004544.4(NDUFA10):c.*1206G>A rs192203978 0.00024
NM_004544.4(NDUFA10):c.*1245G>A rs187916829 0.00024
NM_004544.4(NDUFA10):c.*2685C>A rs114807372 0.00024
NM_005006.7(NDUFS1):c.826C>T (p.Arg276Cys) rs142941808 0.00024
NM_005876.5(SPEG):c.4298G>A (p.Arg1433Gln) rs200847303 0.00024
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_025152.3(NUBPL):c.*850C>T rs370650416 0.00024
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr) rs140933016 0.00024
NM_145064.3(STAC3):c.221A>G (p.Glu74Gly) rs199716296 0.00024
NM_152263.4(TPM3):c.*4541T>A rs886045294 0.00024
NM_199069.2(NDUFAF3):c.386A>G (p.Gln129Arg) rs544277179 0.00024
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_001101362.3(KBTBD13):c.*403C>A rs748599461 0.00023
NM_001151.4(SLC25A4):c.*1546T>C rs762473759 0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr) rs145733370 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.25066C>T (p.Arg8356Cys) rs201810836 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001377299.1(NDUFS2):c.1212G>A (p.Lys404=) rs145959971 0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004544.4(NDUFA10):c.*183C>T rs112660586 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu) rs201414160 0.00022
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.3443C>T (p.Ala1148Val) rs200637566 0.00022
NM_001164508.2(NEB):c.9139C>A (p.His3047Asn) rs147168910 0.00022
NM_001256545.2(MEGF10):c.877A>G (p.Thr293Ala) rs144187055 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln) rs200018866 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00022
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.40123G>A (p.Glu13375Lys) rs988844595 0.00022
NM_001267550.2(TTN):c.54811+15G>A rs201450276 0.00022
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr) rs371030086 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) rs147185850 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_014165.4(NDUFAF4):c.*986A>C rs192839240 0.00022
NM_017534.6(MYH2):c.4442G>A (p.Arg1481His) rs199751037 0.00022
NM_152263.4(TPM3):c.*5755A>G rs777522493 0.00022
NM_152393.4(KLHL40):c.1640G>A (p.Arg547His) rs144187563 0.00022
NM_152393.4(KLHL40):c.197C>G (p.Pro66Arg) rs200810691 0.00022
NM_152393.4(KLHL40):c.643C>T (p.Arg215Cys) rs376618797 0.00022
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944 0.00021
NM_000334.4(SCN4A):c.3173G>A (p.Arg1058Gln) rs760649578 0.00021
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_001025389.2(AMPD3):c.1066C>T (p.Arg356Trp) rs149809940 0.00021
NM_001025389.2(AMPD3):c.408C>T (p.Ser136=) rs542609298 0.00021
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_001164508.2(NEB):c.19675G>A (p.Val6559Ile) rs189232206 0.00021
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.9178A>G (p.Met3060Val) rs538524863 0.00021
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_001267550.2(TTN):c.31645A>G (p.Ile10549Val) rs376613199 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg) rs369260968 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.59026G>T (p.Asp19676Tyr) rs186215280 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.62567A>G (p.Tyr20856Cys) rs373867080 0.00021
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001849.4(COL6A2):c.1585G>A (p.Glu529Lys) rs200667230 0.00021
NM_001849.4(COL6A2):c.2893C>T (p.Arg965Cys) rs201188174 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_002693.3(POLG):c.2369G>A (p.Arg790His) rs191490663 0.00021
NM_004369.4(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00021
NM_004551.3(NDUFS3):c.123C>T (p.Ala41=) rs141187412 0.00021
NM_004553.6(NDUFS6):c.198C>T (p.Asn66=) rs140887831 0.00021
NM_005006.7(NDUFS1):c.*966A>G rs755776989 0.00021
NM_006063.3(KLHL41):c.206C>T (p.Ala69Val) rs151212497 0.00021
NM_032578.4(MYPN):c.952G>A (p.Val318Ile) rs112518450 0.00021
NM_032608.7(MYO18B):c.22G>A (p.Ala8Thr) rs139296373 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_152263.4(TPM3):c.*962C>T rs564047493 0.00021
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001036.6(RYR3):c.12029G>A (p.Arg4010His) rs202140253 0.00020
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.1569C>T (p.Asp523=) rs200758495 0.00020
NM_001164508.2(NEB):c.17897C>T (p.Pro5966Leu) rs368912483 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001267550.2(TTN):c.14697C>T (p.Ser4899=) rs372740215 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu) rs570730533 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.58796C>T (p.Thr19599Ile) rs367816473 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.69853G>A (p.Glu23285Lys) rs376870149 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_002488.4(NDUFA2):c.-63G>A rs748460855 0.00020
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser) rs140776586 0.00020
NM_004551.3(NDUFS3):c.*39C>T rs145121567 0.00020
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_016474.5(CCDC174):c.86T>C (p.Phe29Ser) rs199752374 0.00020
NM_017534.6(MYH2):c.2332C>T (p.Leu778Phe) rs751563313 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_025152.3(NUBPL):c.*905A>C rs750277296 0.00020
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln) rs377612351 0.00020
NM_199069.2(NDUFAF3):c.193A>T (p.Ser65Cys) rs200576852 0.00020
NM_213674.1(TPM2):c.-238C>T rs886063908 0.00020
NC_000002.12:g.178719839G>A rs771244164 0.00019
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518 0.00019
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met) rs201115705 0.00019
NM_001101362.3(KBTBD13):c.331G>A (p.Asp111Asn) rs567309902 0.00019
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794 0.00019
NM_001164508.2(NEB):c.25359A>C (p.Gln8453His) rs377748897 0.00019
NM_001164508.2(NEB):c.2771A>C (p.Tyr924Ser) rs199903114 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001164508.2(NEB):c.9067G>A (p.Val3023Met) rs377375638 0.00019
NM_001164508.2(NEB):c.9866G>A (p.Gly3289Asp) rs371490023 0.00019
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu) rs373446383 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.105920T>C (p.Val35307Ala) rs780629996 0.00019
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.32780A>G (p.Lys10927Arg) rs373657520 0.00019
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_001267550.2(TTN):c.86723A>G (p.Asn28908Ser) rs377612718 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala) rs758207460 0.00019
NM_001377299.1(NDUFS2):c.117A>G (p.Pro39=) rs145578059 0.00019
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp) rs200215340 0.00019
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_001849.4(COL6A2):c.2623G>A (p.Ala875Thr) rs199606147 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002469.3(MYF6):c.184G>A (p.Val62Ile) rs190471225 0.00019
NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) rs141774400 0.00019
NM_004281.4(BAG3):c.*399G>T rs774188346 0.00019
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met) rs144976132 0.00019
NM_004544.4(NDUFA10):c.749+11C>T rs200760509 0.00019
NM_005006.7(NDUFS1):c.*130A>C rs200736574 0.00019
NM_005876.5(SPEG):c.52C>T (p.Pro18Ser) rs544959269 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_017534.6(MYH2):c.3058G>C (p.Glu1020Gln) rs150248342 0.00019
NM_017534.6(MYH2):c.4304T>C (p.Met1435Thr) rs139691540 0.00019
NM_021074.4(NDUFV2):c.-83C>T rs540830035 0.00019
NM_139343.3(BIN1):c.-105G>C rs575072529 0.00019
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr) rs142487510 0.00019
NM_152393.4(KLHL40):c.413G>C (p.Arg138Pro) rs142285083 0.00019
NM_198271.5(LMOD3):c.1384T>G (p.Phe462Val) rs368084636 0.00019
NM_198859.4(PRICKLE2):c.635G>A (p.Gly212Glu) rs779069863 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000334.4(SCN4A):c.611C>T (p.Ala204Val) rs199859508 0.00018
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr) rs752366165 0.00018
NM_001164508.2(NEB):c.10258C>T (p.Arg3420Cys) rs201596787 0.00018
NM_001164508.2(NEB):c.19550G>A (p.Arg6517His) rs149596493 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.3964G>T (p.Ala1322Ser) rs376611641 0.00018
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro) rs183667452 0.00018
NM_001164508.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735 0.00018
NM_001256545.2(MEGF10):c.*1052C>A rs192309131 0.00018
NM_001256545.2(MEGF10):c.-19+8996T>G rs752797617 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln) rs1479390801 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.55205T>G (p.Ile18402Ser) rs776899398 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001267550.2(TTN):c.84968A>T (p.Tyr28323Phe) rs1285180382 0.00018
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001377299.1(NDUFS2):c.1354+10C>A rs201275792 0.00018
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser) rs201917318 0.00018
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln) rs200091648 0.00018
NM_005006.7(NDUFS1):c.768G>A (p.Ala256=) rs148726142 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_007078.3(LDB3):c.897-6700G>A rs560431536 0.00018
NM_015602.4(TOR1AIP1):c.580C>T (p.Arg194Cys) rs534816625 0.00018
NM_017534.6(MYH2):c.1729G>A (p.Glu577Lys) rs564509544 0.00018
NM_017534.6(MYH2):c.533+6T>G rs545924178 0.00018
NM_020451.3(SELENON):c.980G>A (p.Arg327His) rs556232275 0.00018
NM_024120.5(NDUFAF5):c.245G>A (p.Arg82His) rs376456360 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NC_000012.12:g.121626905C>G rs572379138 0.00017
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro) rs576536458 0.00017
NM_000334.4(SCN4A):c.*304G>A rs545908155 0.00017
NM_000334.4(SCN4A):c.*86G>T rs566876110 0.00017
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=) rs377187913 0.00017
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.367C>T (p.Arg123Cys) rs200555425 0.00017
NM_001164508.2(NEB):c.6807+10T>C rs375723456 0.00017
NM_001164508.2(NEB):c.7778T>C (p.Phe2593Ser) rs370615288 0.00017
NM_001256545.2(MEGF10):c.*3131A>C rs193298014 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00017
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met) rs779238709 0.00017
NM_001267550.2(TTN):c.40352C>A (p.Pro13451His) rs370048456 0.00017
NM_001267550.2(TTN):c.40543G>A (p.Val13515Ile) rs727504200 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His) rs771668359 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu) rs200308639 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001267550.2(TTN):c.89936C>T (p.Thr29979Ile) rs779619858 0.00017
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile) rs371386355 0.00017
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_017534.6(MYH2):c.3728C>T (p.Thr1243Met) rs150829316 0.00017
NM_017534.6(MYH2):c.3854G>A (p.Arg1285His) rs148326504 0.00017
NM_017534.6(MYH2):c.4582C>T (p.Arg1528Cys) rs377584935 0.00017
NM_017534.6(MYH2):c.4697G>A (p.Arg1566His) rs200732220 0.00017
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly) rs138927584 0.00017
NM_152393.4(KLHL40):c.236C>T (p.Pro79Leu) rs779637973 0.00017
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp) rs376142558 0.00017
NM_199069.2(NDUFAF3):c.*169G>C rs886058669 0.00017
NM_000036.3(AMPD1):c.1849A>G (p.Met617Val) rs565587413 0.00016
NM_000069.3(CACNA1S):c.258+6A>G rs376899610 0.00016
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000334.4(SCN4A):c.4519G>A (p.Val1507Ile) rs140517911 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=) rs36042816 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9796A>C (p.Met3266Leu) rs201588259 0.00016
NM_001025389.2(AMPD3):c.*431A>G rs751822472 0.00016
NM_001025389.2(AMPD3):c.*845A>G rs529360394 0.00016
NM_001164508.2(NEB):c.11221G>A (p.Gly3741Ser) rs375657086 0.00016
NM_001164508.2(NEB):c.19745C>T (p.Ala6582Val) rs375646776 0.00016
NM_001164508.2(NEB):c.20440C>T (p.Arg6814Cys) rs765806782 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988 0.00016
NM_001164508.2(NEB):c.7227+13T>G rs373818296 0.00016
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp) rs375164626 0.00016
NM_001164508.2(NEB):c.8071C>T (p.Arg2691Cys) rs202044707 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001164508.2(NEB):c.9578A>G (p.Glu3193Gly) rs369985728 0.00016
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) rs139884665 0.00016
NM_001256545.2(MEGF10):c.3288G>C (p.Gln1096His) rs142969706 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys) rs377600383 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.33367G>A (p.Ala11123Thr) rs200321239 0.00016
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu) rs367720476 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys) rs367774903 0.00016
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412 0.00016
NM_001267550.2(TTN):c.52853G>A (p.Arg17618His) rs371538664 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) rs575837567 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.63109C>T (p.Arg21037Cys) rs191549948 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001378030.1(CCDC78):c.1054-3T>C rs371542042 0.00016
NM_001378030.1(CCDC78):c.268-3C>T rs371386354 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001843.4(CNTN1):c.1805-3C>T rs771301005 0.00016
NM_001849.4(COL6A2):c.2785G>A (p.Val929Met) rs145527336 0.00016
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser) rs200200671 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002469.3(MYF6):c.288A>T (p.Lys96Asn) rs377370090 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_003283.6(TNNT1):c.73G>A (p.Ala25Thr) rs372922115 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004369.4(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455 0.00016
NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser) rs142716964 0.00016
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser) rs75666426 0.00016
NM_005876.5(SPEG):c.206C>T (p.Thr69Met) rs768017689 0.00016
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln) rs143996848 0.00016
NM_014165.4(NDUFAF4):c.*1203A>G rs190331411 0.00016
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) rs558262843 0.00016
NM_017534.6(MYH2):c.2626A>G (p.Arg876Gly) rs201784718 0.00016
NM_020451.3(SELENON):c.1247G>A (p.Arg416Gln) rs373112027 0.00016
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743 0.00016
NM_025152.3(NUBPL):c.-7C>T rs201073307 0.00016
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_032608.7(MYO18B):c.4390C>T (p.Arg1464Trp) rs372963298 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_138638.5(CFL2):c.4-198A>G rs143465827 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) rs200887814 0.00016
NM_139343.3(BIN1):c.1480G>A (p.Val494Met) rs144459969 0.00016
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe) rs142817656 0.00016
NM_152393.4(KLHL40):c.1709C>T (p.Thr570Met) rs139268932 0.00016
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln) rs372367565 0.00016
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr) rs146754847 0.00015
NM_000540.3(RYR1):c.2767A>G (p.Met923Val) rs149913097 0.00015
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_001101362.3(KBTBD13):c.272C>A (p.Pro91Gln) rs773454367 0.00015
NM_001164508.2(NEB):c.10583G>A (p.Arg3528His) rs199584268 0.00015
NM_001164508.2(NEB):c.20941G>A (p.Val6981Met) rs374961597 0.00015
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001256545.2(MEGF10):c.2848G>C (p.Val950Leu) rs148280932 0.00015
NM_001256545.2(MEGF10):c.3170G>A (p.Arg1057Lys) rs374156507 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.24622G>A (p.Glu8208Lys) rs190192954 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys) rs368607833 0.00015
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met) rs1336768417 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001267550.2(TTN):c.68513C>T (p.Ala22838Val) rs372075439 0.00015
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del) rs778364983 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772 0.00015
NM_001267550.2(TTN):c.98959T>C (p.Ser32987Pro) rs758494581 0.00015
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe) rs746380940 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001378030.1(CCDC78):c.1103G>A (p.Gly368Glu) rs145971446 0.00015
NM_001378030.1(CCDC78):c.436G>T (p.Val146Leu) rs148705181 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691 0.00015
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891 0.00015
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala) rs192345009 0.00015
NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) rs200487396 0.00015
NM_005876.5(SPEG):c.8110C>T (p.Arg2704Trp) rs370009561 0.00015
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro) rs373049289 0.00015
NM_015602.4(TOR1AIP1):c.838+3A>G rs139072070 0.00015
NM_016013.4(NDUFAF1):c.249T>A (p.Asp83Glu) rs146540015 0.00015
NM_017534.6(MYH2):c.1334G>A (p.Arg445His) rs201040489 0.00015
NM_020451.3(SELENON):c.1744C>T (p.Arg582Trp) rs373530866 0.00015
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00015
NM_032608.7(MYO18B):c.3616C>T (p.Pro1206Ser) rs199769850 0.00015
NM_032608.7(MYO18B):c.611C>T (p.Ala204Val) rs530488010 0.00015
NM_152263.4(TPM3):c.*5658G>A rs547577437 0.00015
NM_152393.4(KLHL40):c.836G>T (p.Gly279Val) rs144534091 0.00015
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094 0.00014
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln) rs377474103 0.00014
NM_000182.5(HADHA):c.1465A>G (p.Lys489Glu) rs145422395 0.00014
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr) rs201115695 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His) rs141942845 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00014
NM_000540.3(RYR1):c.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001101362.3(KBTBD13):c.394G>A (p.Gly132Ser) rs373039171 0.00014
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_001103.4(ACTN2):c.2367+5G>A rs200469353 0.00014
NM_001151.4(SLC25A4):c.*2697T>C rs768164742 0.00014
NM_001164508.2(NEB):c.10118G>A (p.Arg3373Gln) rs568814745 0.00014
NM_001164508.2(NEB):c.1187C>T (p.Ala396Val) rs369957704 0.00014
NM_001164508.2(NEB):c.11900A>G (p.Asn3967Ser) rs376194864 0.00014
NM_001164508.2(NEB):c.1544A>G (p.Gln515Arg) rs368150737 0.00014
NM_001164508.2(NEB):c.18646T>C (p.Phe6216Leu) rs202211102 0.00014
NM_001164508.2(NEB):c.19358C>T (p.Thr6453Met) rs370810654 0.00014
NM_001164508.2(NEB):c.19378G>A (p.Asp6460Asn) rs562175196 0.00014
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu) rs35194393 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001256545.2(MEGF10):c.*48G>A rs775219648 0.00014
NM_001256545.2(MEGF10):c.2150A>G (p.Asn717Ser) rs116135607 0.00014
NM_001256545.2(MEGF10):c.2980+14A>G rs370563737 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00014
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.31922C>T (p.Pro10641Leu) rs773886361 0.00014
NM_001267550.2(TTN):c.32660T>C (p.Ile10887Thr) rs371538856 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp) rs182102510 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.49648+13T>A rs368996176 0.00014
NM_001267550.2(TTN):c.50390G>A (p.Arg16797His) rs200835354 0.00014
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00014
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr) rs532844402 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.72720T>A (p.Val24240=) rs550285671 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala) rs754325718 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.88611T>G (p.Pro29537=) rs555380931 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=) rs367549998 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001382567.1(STIM1):c.562C>A (p.Gln188Lys) rs372235564 0.00014
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln) rs371410741 0.00014
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala) rs775049569 0.00014
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_001458.5(FLNC):c.5298+6G>A rs373553314 0.00014
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln) rs369759751 0.00014
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) rs151126410 0.00014
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu) rs145572916 0.00014
NM_004369.4(COL6A3):c.6966+4A>C rs373940717 0.00014
NM_004544.4(NDUFA10):c.*389C>T rs539829771 0.00014
NM_004553.6(NDUFS6):c.*27A>G rs370587409 0.00014
NM_005006.7(NDUFS1):c.*866A>C rs749790811 0.00014
NM_005138.3(SCO2):c.303G>C (p.Gln101His) rs141551295 0.00014
NM_006063.3(KLHL41):c.642C>G (p.Asn214Lys) rs372183592 0.00014
NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) rs142050639 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_017534.6(MYH2):c.-34C>T rs573601098 0.00014
NM_017534.6(MYH2):c.1300G>A (p.Val434Ile) rs143204063 0.00014
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_024120.5(NDUFAF5):c.752T>C (p.Met251Thr) rs200199681 0.00014
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_032608.7(MYO18B):c.7024G>A (p.Glu2342Lys) rs370531504 0.00014
NM_138638.5(CFL2):c.*2284C>T rs372609152 0.00014
NM_138638.5(CFL2):c.*473A>G rs916389634 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_152263.4(TPM3):c.*482C>T rs886045313 0.00014
NM_199069.2(NDUFAF3):c.109G>A (p.Ala37Thr) rs527954570 0.00014
NM_213674.1(TPM2):c.-158C>A rs886063907 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His) rs760246258 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000257.4(MYH7):c.3726+6C>T rs377745688 0.00013
NM_000334.4(SCN4A):c.2185T>C (p.Cys729Arg) rs200025736 0.00013
NM_000334.4(SCN4A):c.4517A>T (p.Tyr1506Phe) rs762311521 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.9466G>A (p.Val3156Ile) rs150230127 0.00013
NM_000540.3(RYR1):c.9555G>C (p.Lys3185Asn) rs201080180 0.00013
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_001025389.2(AMPD3):c.1739C>T (p.Thr580Met) rs750830023 0.00013
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_001103.4(ACTN2):c.*128G>A rs142016713 0.00013
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_001164508.2(NEB):c.642C>A (p.Asp214Glu) rs373133009 0.00013
NM_001256545.2(MEGF10):c.1316G>A (p.Cys439Tyr) rs761883697 0.00013
NM_001256545.2(MEGF10):c.1364G>A (p.Arg455His) rs144145310 0.00013
NM_001256545.2(MEGF10):c.401A>G (p.Asn134Ser) rs574376262 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala) rs374405802 0.00013
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly) rs376000381 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.19496A>T (p.His6499Leu) rs375173049 0.00013
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465 0.00013
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg) rs371090975 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His) rs373068293 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.3318C>T (p.Gly1106=) rs141768043 0.00013
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu) rs200321949 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.36490C>A (p.Pro12164Thr) rs373422655 0.00013
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg) rs997014833 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.6899A>G (p.Tyr2300Cys) rs772093035 0.00013
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His) rs368634670 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg) rs370928582 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001382567.1(STIM1):c.1757G>A (p.Gly586Asp) rs200525396 0.00013
NM_001382567.1(STIM1):c.454G>A (p.Glu152Lys) rs143916878 0.00013
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) rs369935650 0.00013
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128 0.00013
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 0.00013
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946 0.00013
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn) rs146872525 0.00013
NM_004544.4(NDUFA10):c.*1057T>G rs541016943 0.00013
NM_004553.6(NDUFS6):c.25C>T (p.Arg9Trp) rs376509886 0.00013
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007215.4(POLG2):c.562+11C>T rs782336056 0.00013
NM_017534.6(MYH2):c.1174A>G (p.Ser392Gly) rs139212712 0.00013
NM_017547.4(FOXRED1):c.-31A>G rs368307265 0.00013
NM_017547.4(FOXRED1):c.10A>G (p.Arg4Gly) rs149883459 0.00013
NM_032790.4(ORAI1):c.14C>T (p.Pro5Leu) rs549883296 0.00013
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00013
NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln) rs747054427 0.00013
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln) rs146359866 0.00013
NM_133379.5(TTN):c.15768T>A (p.His5256Gln) rs138826545 0.00013
NM_145064.3(STAC3):c.323G>A (p.Arg108Gln) rs186941885 0.00013
NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser) rs201771939 0.00013
NM_198271.5(LMOD3):c.295-3T>C rs377200088 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg) rs552191498 0.00012
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975 0.00012
NM_000334.4(SCN4A):c.*1887A>G rs749866237 0.00012
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948 0.00012
NM_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_001101362.3(KBTBD13):c.382T>C (p.Phe128Leu) rs572875121 0.00012
NM_001164508.2(NEB):c.10348C>T (p.Arg3450Cys) rs200462308 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18398A>G (p.Lys6133Arg) rs199594449 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.18809G>A (p.Arg6270Gln) rs372804439 0.00012
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.2823G>A (p.Ala941=) rs376849181 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=) rs373278622 0.00012
NM_001164508.2(NEB):c.7896A>G (p.Thr2632=) rs377015178 0.00012
NM_001164508.2(NEB):c.853A>G (p.Ile285Val) rs773114380 0.00012
NM_001164508.2(NEB):c.8890C>T (p.Arg2964Cys) rs368965372 0.00012
NM_001256545.2(MEGF10):c.596A>G (p.Asn199Ser) rs373163952 0.00012
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser) rs565638291 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00012
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile) rs200395305 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.37019C>T (p.Pro12340Leu) rs778829839 0.00012
NM_001267550.2(TTN):c.39430G>A (p.Val13144Ile) rs374394719 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.59402G>A (p.Gly19801Asp) rs202206216 0.00012
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu) rs750217838 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71300G>A (p.Arg23767Gln) rs370516890 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg) rs373717147 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.81464T>C (p.Ile27155Thr) rs397517720 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001267550.2(TTN):c.93371A>T (p.Asp31124Val) rs775147653 0.00012
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) rs143416044 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) rs370481102 0.00012
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu) rs150694150 0.00012
NM_004544.4(NDUFA10):c.*2111G>A rs752139055 0.00012
NM_004553.6(NDUFS6):c.*99G>C rs994577006 0.00012
NM_005006.7(NDUFS1):c.*27C>T rs369746514 0.00012
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu) rs776826330 0.00012
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123 0.00012
NM_025152.3(NUBPL):c.109-11A>T rs886050448 0.00012
NM_025152.3(NUBPL):c.777A>G (p.Ala259=) rs368513010 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_032608.7(MYO18B):c.1675G>A (p.Glu559Lys) rs117243697 0.00012
NM_139343.2(BIN1):c.-214T>G rs886054841 0.00012
NM_145064.3(STAC3):c.962G>A (p.Arg321His) rs370840978 0.00012
NM_152263.4(TPM3):c.*1661C>T rs575927755 0.00012
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys) rs377564589 0.00012
NM_152393.4(KLHL40):c.1621G>A (p.Glu541Lys) rs142761414 0.00012
NM_152393.4(KLHL40):c.1639C>T (p.Arg547Cys) rs187688307 0.00012
NM_198271.5(LMOD3):c.148G>A (p.Val50Met) rs144761436 0.00012
NM_199069.2(NDUFAF3):c.191A>C (p.Asn64Thr) rs199504381 0.00012
NC_000012.12:g.121626886C>T rs782786977 0.00011
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val) rs776146662 0.00011
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His) rs370861322 0.00011
NM_000069.3(CACNA1S):c.1669C>T (p.Arg557Cys) rs756612471 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) rs200042281 0.00011
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp) rs757433005 0.00011
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_000334.4(SCN4A):c.*1108C>G rs773016576 0.00011
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr) rs147936148 0.00011
NM_000334.4(SCN4A):c.145G>A (p.Glu49Lys) rs368011562 0.00011
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457 0.00011
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=) rs374480468 0.00011
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met) rs200481981 0.00011
NM_000334.4(SCN4A):c.5410A>G (p.Thr1804Ala) rs372635510 0.00011
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.14606A>C (p.Asp4869Ala) rs781367427 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_001025389.2(AMPD3):c.1729G>A (p.Gly577Ser) rs769751034 0.00011
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_001101362.3(KBTBD13):c.283C>A (p.Arg95Ser) rs377071831 0.00011
NM_001101362.3(KBTBD13):c.2T>G (p.Met1Arg) rs374196960 0.00011
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_001164508.2(NEB):c.-114+3A>G rs772077208 0.00011
NM_001164508.2(NEB):c.11077-62A>G rs951123465 0.00011
NM_001164508.2(NEB):c.1211C>T (p.Thr404Ile) rs200585609 0.00011
NM_001164508.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341 0.00011
NM_001164508.2(NEB):c.12298C>G (p.Gln4100Glu) rs373829936 0.00011
NM_001164508.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021 0.00011
NM_001164508.2(NEB):c.17242C>T (p.Arg5748Trp) rs546869744 0.00011
NM_001164508.2(NEB):c.17518G>A (p.Ala5840Thr) rs376277385 0.00011
NM_001164508.2(NEB):c.18488C>T (p.Ala6163Val) rs201529683 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001164508.2(NEB):c.20212G>A (p.Asp6738Asn) rs201337732 0.00011
NM_001164508.2(NEB):c.21056G>A (p.Arg7019His) rs377443184 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.2773A>G (p.Ser925Gly) rs928041091 0.00011
NM_001164508.2(NEB):c.5554A>G (p.Met1852Val) rs370172690 0.00011
NM_001164508.2(NEB):c.6481C>T (p.Arg2161Cys) rs201758329 0.00011
NM_001164508.2(NEB):c.6807+5A>G rs746481799 0.00011
NM_001164508.2(NEB):c.8647G>A (p.Val2883Ile) rs369283016 0.00011
NM_001164508.2(NEB):c.9620G>A (p.Arg3207His) rs111841612 0.00011
NM_001164508.2(NEB):c.9854G>A (p.Arg3285His) rs376932516 0.00011
NM_001256545.2(MEGF10):c.1839G>A (p.Arg613=) rs199930517 0.00011
NM_001256545.2(MEGF10):c.656C>T (p.Ala219Val) rs945019709 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.10535T>C (p.Val3512Ala) rs200918396 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.10759A>C (p.Thr3587Pro) rs370496599 0.00011
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val) rs377290301 0.00011
NM_001267550.2(TTN):c.12434A>C (p.Glu4145Ala) rs372744369 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.20485G>A (p.Gly6829Ser) rs139549363 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238 0.00011
NM_001267550.2(TTN):c.34379-15A>G rs764544769 0.00011
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.40796C>T (p.Thr13599Ile) rs370418677 0.00011
NM_001267550.2(TTN):c.4261C>T (p.Arg1421Trp) rs144672482 0.00011
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) rs375309278 0.00011
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu) rs201194435 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001267550.2(TTN):c.59081G>A (p.Cys19694Tyr) rs727505276 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His) rs745992545 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.71155A>G (p.Ile23719Val) rs201818722 0.00011
NM_001267550.2(TTN):c.72166C>T (p.Arg24056Cys) rs372662393 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.81856G>A (p.Val27286Ile) rs372784067 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00011
NM_001267550.2(TTN):c.92677A>G (p.Lys30893Glu) rs370541682 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg) rs376403373 0.00011
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr) rs876658096 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00011
NM_001267550.2(TTN):c.98809A>G (p.Lys32937Glu) rs200544701 0.00011
NM_001378030.1(CCDC78):c.109G>A (p.Ala37Thr) rs144624081 0.00011
NM_001378030.1(CCDC78):c.425A>G (p.His142Arg) rs147899031 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001382567.1(STIM1):c.2053G>A (p.Ala685Thr) rs201466902 0.00011
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser) rs200928780 0.00011
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe) rs201778720 0.00011
NM_001849.4(COL6A2):c.344G>A (p.Arg115Gln) rs145352569 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) rs200735968 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_002469.3(MYF6):c.575A>C (p.Asp192Ala) rs146824657 0.00011
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761 0.00011
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) rs201181493 0.00011
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_004544.4(NDUFA10):c.*2649G>A rs886055815 0.00011
NM_004544.4(NDUFA10):c.*3409G>A rs146483651 0.00011
NM_004553.6(NDUFS6):c.31C>G (p.Leu11Val) rs755222875 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_007078.3(LDB3):c.-24+41G>A rs45578532 0.00011
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_007103.4(NDUFV1):c.454C>T (p.Arg152Cys) rs151144350 0.00011
NM_015602.4(TOR1AIP1):c.1140A>C (p.Gln380His) rs139364730 0.00011
NM_015713.5(RRM2B):c.*2410C>A rs767476703 0.00011
NM_015713.5(RRM2B):c.*2722A>G rs543127762 0.00011
NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) rs184494954 0.00011
NM_017534.6(MYH2):c.3615T>C (p.Ser1205=) rs751186949 0.00011
NM_017547.3(FOXRED1):c.-151C>A rs546439717 0.00011
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00011
NM_020451.3(SELENON):c.1295C>T (p.Pro432Leu) rs199920149 0.00011
NM_020451.3(SELENON):c.1388-3C>T rs754894330 0.00011
NM_025152.3(NUBPL):c.*1048G>A rs886050455 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His) rs372512501 0.00011
NM_032608.7(MYO18B):c.5854A>G (p.Ile1952Val) rs202126120 0.00011
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) rs145919543 0.00011
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_145064.3(STAC3):c.941C>T (p.Thr314Met) rs146430404 0.00011
NM_152263.4(TPM3):c.*32C>T rs141699072 0.00011
NM_152393.4(KLHL40):c.1355T>C (p.Val452Ala) rs140389534 0.00011
NM_152393.4(KLHL40):c.1636G>C (p.Glu546Gln) rs137937929 0.00011
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_174889.4(NDUFAF2):c.-63G>T rs886060724 0.00011
NM_174889.5(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218 0.00011
NM_000036.3(AMPD1):c.440G>A (p.Arg147His) rs147852547 0.00010
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) rs200334886 0.00010
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His) rs747618077 0.00010
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr) rs200434921 0.00010
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000334.4(SCN4A):c.*1253G>A rs886053240 0.00010
NM_000334.4(SCN4A):c.1100+15G>A rs533321924 0.00010
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=) rs751973449 0.00010
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr) rs201192904 0.00010
NM_000334.4(SCN4A):c.5415G>A (p.Met1805Ile) rs368984178 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001101362.3(KBTBD13):c.359del (p.Asp120fs) rs903604256 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001164508.2(NEB):c.10141G>A (p.Asp3381Asn) rs374760449 0.00010
NM_001164508.2(NEB):c.10181T>C (p.Ile3394Thr) rs376182104 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.13G>A (p.Glu5Lys) rs374390581 0.00010
NM_001164508.2(NEB):c.17462G>A (p.Arg5821His) rs773239926 0.00010
NM_001164508.2(NEB):c.18224A>C (p.His6075Pro) rs768813228 0.00010
NM_001164508.2(NEB):c.18859C>T (p.Arg6287Cys) rs374606967 0.00010
NM_001164508.2(NEB):c.19406G>A (p.Arg6469Gln) rs556624010 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.21525C>T (p.Ile7175=) rs369183371 0.00010
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001164508.2(NEB):c.2630A>G (p.Gln877Arg) rs373892420 0.00010
NM_001164508.2(NEB):c.4904C>T (p.Thr1635Ile) rs199662534 0.00010
NM_001164508.2(NEB):c.4938C>T (p.Asn1646=) rs765208384 0.00010
NM_001164508.2(NEB):c.5495T>C (p.Ile1832Thr) rs751494785 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001164508.2(NEB):c.8019C>T (p.Leu2673=) rs755883171 0.00010
NM_001164508.2(NEB):c.9271G>A (p.Asp3091Asn) rs764110936 0.00010
NM_001256545.2(MEGF10):c.*13G>A rs372938701 0.00010
NM_001267550.2(TTN):c.100058T>C (p.Ile33353Thr) rs138234724 0.00010
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.21404-8C>G rs761542135 0.00010
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) rs566454891 0.00010
NM_001267550.2(TTN):c.24020G>A (p.Arg8007Gln) rs765789516 0.00010
NM_001267550.2(TTN):c.24639A>C (p.Gln8213His) rs397517510 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.25937G>A (p.Arg8646His) rs144587343 0.00010
NM_001267550.2(TTN):c.26144G>A (p.Cys8715Tyr) rs183499397 0.00010
NM_001267550.2(TTN):c.26283C>T (p.Gly8761=) rs376046284 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile) rs397517566 0.00010
NM_001267550.2(TTN):c.34954G>T (p.Val11652Leu) rs371752190 0.00010
NM_001267550.2(TTN):c.37543+5G>T rs570767771 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln) rs747224934 0.00010
NM_001267550.2(TTN):c.5048G>A (p.Arg1683Gln) rs368122582 0.00010
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) rs551538420 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_001267550.2(TTN):c.62546C>T (p.Thr20849Met) rs372685222 0.00010
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr) rs886038878 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.65731A>G (p.Lys21911Glu) rs372565084 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys) rs763702243 0.00010
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala) rs200240728 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.90104G>A (p.Arg30035His) rs199895320 0.00010
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp) rs373623340 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_001267550.2(TTN):c.98807G>A (p.Arg32936His) rs774296358 0.00010
NM_001377299.1(NDUFS2):c.515-3C>A rs149789018 0.00010
NM_001378030.1(CCDC78):c.468T>G (p.Asn156Lys) rs370998388 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.1332+3G>A rs201007156 0.00010
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser) rs147054208 0.00010
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_003000.3(SDHB):c.113G>A (p.Arg38His) rs143058777 0.00010
NM_004168.4(SDHA):c.*189C>T rs185107377 0.00010
NM_004369.4(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863 0.00010
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met) rs370767331 0.00010
NM_005138.3(SCO2):c.162C>T (p.Gly54=) rs139545104 0.00010
NM_007103.4(NDUFV1):c.1353G>T (p.Gln451His) rs768582587 0.00010
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_015713.5(RRM2B):c.*2978A>G rs761021253 0.00010
NM_015713.5(RRM2B):c.*3118T>G rs1010967137 0.00010
NM_015713.5(RRM2B):c.*328G>A rs142449540 0.00010
NM_017534.6(MYH2):c.1566C>T (p.Ala522=) rs142383679 0.00010
NM_017534.6(MYH2):c.2266G>A (p.Asp756Asn) rs202198533 0.00010
NM_017534.6(MYH2):c.5264G>A (p.Arg1755His) rs144414607 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) rs147134820 0.00010
NM_138638.5(CFL2):c.*718A>G rs886050474 0.00010
NM_138638.5(CFL2):c.355A>T (p.Ser119Cys) rs1353965924 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.857+4C>T rs61748156 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_152263.4(TPM3):c.*3481C>T rs753333464 0.00010
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly) rs755802840 0.00010
NC_000012.12:g.121626898A>C rs782810452 0.00009
NM_000036.3(AMPD1):c.1388+5G>A rs374144421 0.00009
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) rs377325321 0.00009
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00009
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000257.4(MYH7):c.5559+5G>A rs371177871 0.00009
NM_000334.4(SCN4A):c.*1916C>T rs139537251 0.00009
NM_000334.4(SCN4A):c.*630T>C rs779847568 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=) rs538173069 0.00009
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229 0.00009
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu) rs202102815 0.00009
NM_000334.4(SCN4A):c.841G>A (p.Val281Met) rs370289618 0.00009
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln) rs192057022 0.00009
NM_000540.3(RYR1):c.10042C>T (p.Arg3348Cys) rs118204421 0.00009
NM_000540.3(RYR1):c.10824+8G>A rs374325589 0.00009
NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser) rs570010656 0.00009
NM_000540.3(RYR1):c.13480G>A (p.Glu4494Lys) rs143849895 0.00009
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val) rs569890286 0.00009
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu) rs199837883 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001025389.2(AMPD3):c.459G>A (p.Lys153=) rs752821070 0.00009
NM_001025389.2(AMPD3):c.460A>G (p.Ser154Gly) rs756660564 0.00009
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001151.4(SLC25A4):c.*3025G>A rs773137655 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001164508.2(NEB):c.10026G>C (p.Lys3342Asn) rs117636679 0.00009
NM_001164508.2(NEB):c.11077C>T (p.Arg3693Cys) rs539139958 0.00009
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.11540C>A (p.Thr3847Asn) rs766876980 0.00009
NM_001164508.2(NEB):c.11559T>C (p.Asn3853=) rs369429046 0.00009
NM_001164508.2(NEB):c.12200T>C (p.Ile4067Thr) rs746008098 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.13204A>G (p.Ser4402Gly) rs1475846023 0.00009
NM_001164508.2(NEB):c.17215G>A (p.Asp5739Asn) rs200672818 0.00009
NM_001164508.2(NEB):c.17844+7C>T rs373259828 0.00009
NM_001164508.2(NEB):c.18278A>T (p.Asn6093Ile) rs370695020 0.00009
NM_001164508.2(NEB):c.18866G>A (p.Arg6289Gln) rs575958060 0.00009
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=) rs200122580 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.25163G>A (p.Arg8388His) rs139333406 0.00009
NM_001164508.2(NEB):c.403G>A (p.Val135Ile) rs373729655 0.00009
NM_001164508.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579 0.00009
NM_001164508.2(NEB):c.7914C>T (p.Ser2638=) rs373353657 0.00009
NM_001164508.2(NEB):c.8800C>T (p.Arg2934Cys) rs771598053 0.00009
NM_001164508.2(NEB):c.9832-7A>T rs778183317 0.00009
NM_001164508.2(NEB):c.9878G>C (p.Gly3293Ala) rs199890164 0.00009
NM_001256545.2(MEGF10):c.*296C>T rs568755125 0.00009
NM_001256545.2(MEGF10):c.*3769C>T rs886059880 0.00009
NM_001256545.2(MEGF10):c.1726C>T (p.Arg576Cys) rs143087353 0.00009
NM_001256545.2(MEGF10):c.2050A>T (p.Ile684Phe) rs772306149 0.00009
NM_001256545.2(MEGF10):c.2157T>C (p.His719=) rs374544972 0.00009
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=) rs151316424 0.00009
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=) rs370850456 0.00009
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=) rs371253627 0.00009
NM_001267550.2(TTN):c.*25C>T rs370597649 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.103992C>G (p.Leu34664=) rs375120372 0.00009
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) rs370890922 0.00009
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00009
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys) rs568460311 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.105755G>A (p.Arg35252Gln) rs368151146 0.00009
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg) rs377579941 0.00009
NM_001267550.2(TTN):c.14518A>C (p.Asn4840His) rs199997460 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16060G>C (p.Asp5354His) rs745578038 0.00009
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys) rs374682077 0.00009
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu) rs370889765 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser) rs368692616 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.18307+12A>G rs376899412 0.00009
NM_001267550.2(TTN):c.18470T>C (p.Ile6157Thr) rs371882162 0.00009
NM_001267550.2(TTN):c.2061A>G (p.Gln687=) rs188680791 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn) rs267599060 0.00009
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848 0.00009
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.26674G>A (p.Val8892Ile) rs747832107 0.00009
NM_001267550.2(TTN):c.27049+10C>A rs780979988 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.30033A>G (p.Gln10011=) rs768497622 0.00009
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln) rs778565859 0.00009
NM_001267550.2(TTN):c.31208-13G>A rs377135196 0.00009
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln) rs727504757 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.33418+12C>A rs199772748 0.00009
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg) rs372841136 0.00009
NM_001267550.2(TTN):c.34354G>A (p.Val11452Met) rs938988662 0.00009
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu) rs199975096 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.3608G>C (p.Gly1203Ala) rs564353179 0.00009
NM_001267550.2(TTN):c.40082T>A (p.Ile13361Asn) rs568151115 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu) rs561284948 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.50480G>A (p.Arg16827Gln) rs138896856 0.00009
NM_001267550.2(TTN):c.50774T>C (p.Val16925Ala) rs370067597 0.00009
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp) rs372443762 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu) rs369648778 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His) rs200455644 0.00009
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His) rs368278158 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=) rs369255906 0.00009
NM_001267550.2(TTN):c.65574T>C (p.Asn21858=) rs374858668 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His) rs374883884 0.00009
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp) rs750853901 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.77707G>A (p.Val25903Ile) rs570615498 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.83059C>T (p.Leu27687=) rs200992636 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.9166C>T (p.Arg3056Cys) rs377207838 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His) rs755972883 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser) rs200148139 0.00009
NM_001267550.2(TTN):c.98989+12A>C rs72648275 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001377299.1(NDUFS2):c.540G>A (p.Leu180=) rs41428447 0.00009
NM_001378030.1(CCDC78):c.1214G>A (p.Arg405Gln) rs771507948 0.00009
NM_001382567.1(STIM1):c.1994G>A (p.Arg665Gln) rs200632934 0.00009
NM_001458.5(FLNC):c.1168A>C (p.Asn390His) rs922960289 0.00009
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile) rs374757755 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) rs200077114 0.00009
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu) rs201949844 0.00009
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val) rs747796553 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser) rs778922568 0.00009
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val) rs972742579 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_002488.4(NDUFA2):c.-114T>A rs760264090 0.00009
NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) rs201192905 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1591G>A (p.Val531Met) rs371056571 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004168.4(SDHA):c.1751C>T (p.Ala584Val) rs201068049 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu) rs556000090 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg) rs370664069 0.00009
NM_004369.4(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952 0.00009
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp) rs371066956 0.00009
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu) rs754916465 0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly) rs200167099 0.00009
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys) rs199684959 0.00009
NM_004544.4(NDUFA10):c.*3067C>T rs564992184 0.00009
NM_004544.4(NDUFA10):c.*765C>T rs144208727 0.00009
NM_005006.7(NDUFS1):c.1612C>T (p.Arg538Trp) rs138887128 0.00009
NM_005006.7(NDUFS1):c.1748T>C (p.Ile583Thr) rs773111037 0.00009
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) rs375383752 0.00009
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) rs201174948 0.00009
NM_006063.3(KLHL41):c.1711T>C (p.Tyr571His) rs758684130 0.00009
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) rs766650528 0.00009
NM_007078.3(LDB3):c.1071T>A (p.Pro357=) rs143823978 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007078.3(LDB3):c.690-4619G>T rs761090088 0.00009
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_015602.4(TOR1AIP1):c.1319G>A (p.Arg440His) rs145065164 0.00009
NM_015713.5(RRM2B):c.*552G>A rs375924434 0.00009
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017534.6(MYH2):c.772A>G (p.Thr258Ala) rs776266174 0.00009
NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp) rs777651549 0.00009
NM_020451.3(SELENON):c.1517C>T (p.Ser506Leu) rs766798515 0.00009
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00009
NM_025152.3(NUBPL):c.*1609G>A rs142179743 0.00009
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00009
NM_133379.5(TTN):c.11699T>C (p.Ile3900Thr) rs144799515 0.00009
NM_139343.3(BIN1):c.*470A>C rs984385783 0.00009
NM_139343.3(BIN1):c.1226C>T (p.Thr409Met) rs754678339 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_145064.3(STAC3):c.806C>T (p.Pro269Leu) rs367590066 0.00009
NM_152263.4(TPM3):c.*2015T>C rs758111582 0.00009
NM_152263.4(TPM3):c.*5795C>T rs981377315 0.00009
NM_152393.4(KLHL40):c.1204C>T (p.Arg402Cys) rs149076152 0.00009
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile) rs751407704 0.00009
NM_199069.1(NDUFAF3):c.-249C>T rs886058665 0.00009
NC_000001.11:g.114695547A>G rs377496676 0.00008
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His) rs140957303 0.00008
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe) rs145315039 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln) rs372436488 0.00008
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg) rs751048080 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000183.3(HADHB):c.272C>T (p.Thr91Ile) rs145712438 0.00008
NM_000183.3(HADHB):c.514C>T (p.Pro172Ser) rs367891116 0.00008
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242 0.00008
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=) rs375375167 0.00008
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00008
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.12345A>C (p.Glu4115Asp) rs148923077 0.00008
NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr) rs200286252 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000540.3(RYR1):c.8310+10A>G rs372730488 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_001025389.2(AMPD3):c.991C>T (p.Arg331Cys) rs758038726 0.00008
NM_001164507.2(NEB):c.21396C>T (p.Thr7132=) rs759637718 0.00008
NM_001164508.2(NEB):c.10196T>C (p.Ile3399Thr) rs377734027 0.00008
NM_001164508.2(NEB):c.12511G>A (p.Ala4171Thr) rs1420479305 0.00008
NM_001164508.2(NEB):c.1285G>T (p.Asp429Tyr) rs577939684 0.00008
NM_001164508.2(NEB):c.16625A>G (p.His5542Arg) rs773955783 0.00008
NM_001164508.2(NEB):c.17203G>A (p.Ala5735Thr) rs202111641 0.00008
NM_001164508.2(NEB):c.17272A>G (p.Ile5758Val) rs541672313 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp) rs200559481 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001164508.2(NEB):c.4431T>C (p.Asp1477=) rs140558263 0.00008
NM_001164508.2(NEB):c.8039G>A (p.Arg2680Gln) rs201746137 0.00008
NM_001164508.2(NEB):c.8356A>G (p.Arg2786Gly) rs201747395 0.00008
NM_001164508.2(NEB):c.9373G>A (p.Asp3125Asn) rs375811851 0.00008
NM_001164508.2(NEB):c.9619-9C>T rs778009768 0.00008
NM_001256545.2(MEGF10):c.2348G>A (p.Arg783Gln) rs755400237 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105737C>G (p.Ala35246Gly) rs370476812 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131 0.00008
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val) rs567457007 0.00008
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523 0.00008
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser) rs371518764 0.00008
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr) rs759713604 0.00008
NM_001267550.2(TTN):c.26221A>G (p.Lys8741Glu) rs538959125 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val) rs750612476 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.3522A>C (p.Glu1174Asp) rs545280886 0.00008
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) rs181902304 0.00008
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro) rs369663023 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys) rs377563403 0.00008
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met) rs541384076 0.00008
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe) rs746817480 0.00008
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.57112-4C>T rs117072049 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.59573C>T (p.Thr19858Ile) rs757911359 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00008
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His) rs727504520 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.73319T>C (p.Ile24440Thr) rs370931683 0.00008
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00008
NM_001267550.2(TTN):c.77913T>C (p.Tyr25971=) rs72648203 0.00008
NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr) rs554718474 0.00008
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370 0.00008
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr) rs773226749 0.00008
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663 0.00008
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser) rs758537709 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001378030.1(CCDC78):c.104G>A (p.Gly35Asp) rs929692414 0.00008
NM_001378030.1(CCDC78):c.1241C>A (p.Ala414Asp) rs369081589 0.00008
NM_001382567.1(STIM1):c.182A>G (p.Glu61Gly) rs202160755 0.00008
NM_001382567.1(STIM1):c.1987G>A (p.Asp663Asn) rs369549218 0.00008
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly) rs201002262 0.00008
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) rs771657279 0.00008
NM_001848.3(COL6A1):c.1777-3C>T rs111263341 0.00008
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala) rs753298014 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.1532T>C (p.Leu511Pro) rs375194444 0.00008
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_004168.4(SDHA):c.1597C>G (p.Gln533Glu) rs149367009 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_004281.4(BAG3):c.-128G>T rs543269835 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928 0.00008
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys) rs111395856 0.00008
NM_004544.4(NDUFA10):c.*1214C>T rs546735567 0.00008
NM_004544.4(NDUFA10):c.*2900G>A rs752124492 0.00008
NM_004551.2(NDUFS3):c.-30C>T rs375483884 0.00008
NM_007078.3(LDB3):c.1411C>T (p.Pro471Ser) rs750941511 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu) rs769852198 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_015602.4(TOR1AIP1):c.1381G>T (p.Val461Leu) rs368563369 0.00008
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly) rs201023108 0.00008
NM_015602.4(TOR1AIP1):c.661G>A (p.Glu221Lys) rs377110579 0.00008
NM_015602.4(TOR1AIP1):c.808A>G (p.Thr270Ala) rs780046037 0.00008
NM_017534.6(MYH2):c.1249G>A (p.Gly417Ser) rs148270782 0.00008
NM_017534.6(MYH2):c.205-3C>T rs371123671 0.00008
NM_017534.6(MYH2):c.3572A>G (p.His1191Arg) rs747186072 0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017534.6(MYH2):c.5743C>T (p.Arg1915Trp) rs745584391 0.00008
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510 0.00008
NM_018116.4(MSTO1):c.1229G>A (p.Arg410His) rs767313156 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_020451.3(SELENON):c.457G>A (p.Glu153Lys) rs374512346 0.00008
NM_021830.5(TWNK):c.1190A>G (p.Asp397Gly) rs751144474 0.00008
NM_025152.3(NUBPL):c.*1047C>T rs913575962 0.00008
NM_025152.3(NUBPL):c.*864C>T rs996734164 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_152263.4(TPM3):c.*4924C>T rs1036320708 0.00008
NM_152263.4(TPM3):c.*5500C>G rs973966350 0.00008
NM_152393.4(KLHL40):c.1414A>G (p.Ser472Gly) rs752099249 0.00008
NC_000002.12:g.178692011C>T rs145387989 0.00007
NC_000012.12:g.121641621C>T rs555170508 0.00007
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000083.3(CLCN1):c.1123G>A (p.Gly375Ser) rs140536210 0.00007
NM_000116.5(TAFAZZIN):c.*618A>G rs781924638 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) rs368455378 0.00007
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_000257.4(MYH7):c.5499C>T (p.Asn1833=) rs3729831 0.00007
NM_000334.4(SCN4A):c.*1313G>A rs761821168 0.00007
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln) rs374446143 0.00007
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro) rs753182664 0.00007
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=) rs201036204 0.00007
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg) rs267604988 0.00007
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.12841G>A (p.Gly4281Arg) rs1131691504 0.00007
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu) rs201054455 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.1475G>A (p.Arg492His) rs901087791 0.00007
NM_000540.3(RYR1):c.2681C>T (p.Pro894Leu) rs758631999 0.00007
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val) rs149096607 0.00007
NM_000540.3(RYR1):c.3495C>T (p.Gly1165=) rs772616442 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.7028-8G>A rs147390699 0.00007
NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu) rs759530203 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_001101362.3(KBTBD13):c.*174G>A rs983773942 0.00007
NM_001101362.3(KBTBD13):c.833A>T (p.Tyr278Phe) rs748032183 0.00007
NM_001103.4(ACTN2):c.*1001T>A rs902731297 0.00007
NM_001103.4(ACTN2):c.*1645C>G rs577833572 0.00007
NM_001164508.2(NEB):c.10005G>A (p.Met3335Ile) rs375830667 0.00007
NM_001164508.2(NEB):c.11034G>A (p.Pro3678=) rs528974814 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_001164508.2(NEB):c.20245C>A (p.Gln6749Lys) rs772854423 0.00007
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164508.2(NEB):c.368G>A (p.Arg123His) rs546250852 0.00007
NM_001164508.2(NEB):c.4978C>A (p.Pro1660Thr) rs776231831 0.00007
NM_001164508.2(NEB):c.5565C>A (p.Asp1855Glu) rs200468391 0.00007
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=) rs368371414 0.00007
NM_001164508.2(NEB):c.6097G>A (p.Glu2033Lys) rs956309067 0.00007
NM_001164508.2(NEB):c.6482G>A (p.Arg2161His) rs373778424 0.00007
NM_001164508.2(NEB):c.9146T>C (p.Ile3049Thr) rs776759120 0.00007
NM_001256545.2(MEGF10):c.*104G>A rs541948892 0.00007
NM_001256545.2(MEGF10):c.1112A>C (p.His371Pro) rs775006586 0.00007
NM_001256545.2(MEGF10):c.1166C>T (p.Pro389Leu) rs141706024 0.00007
NM_001256545.2(MEGF10):c.1514G>A (p.Gly505Glu) rs199699950 0.00007
NM_001256545.2(MEGF10):c.534C>T (p.Cys178=) rs577473643 0.00007
NM_001256545.2(MEGF10):c.538G>A (p.Asp180Asn) rs142679354 0.00007
NM_001256545.2(MEGF10):c.631C>T (p.Arg211Cys) rs200236385 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys) rs376443365 0.00007
NM_001267550.2(TTN):c.105260C>T (p.Thr35087Met) rs397517795 0.00007
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467 0.00007
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly) rs745641339 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.21789G>C (p.Trp7263Cys) rs377544260 0.00007
NM_001267550.2(TTN):c.25717A>C (p.Ile8573Leu) rs142609645 0.00007
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.2743C>T (p.Arg915Cys) rs539652641 0.00007
NM_001267550.2(TTN):c.27793A>C (p.Asn9265His) rs397517524 0.00007
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile) rs200207722 0.00007
NM_001267550.2(TTN):c.28098C>G (p.Ser9366Arg) rs374930292 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.32569A>G (p.Lys10857Glu) rs372878566 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.3368C>G (p.Thr1123Ser) rs773799748 0.00007
NM_001267550.2(TTN):c.38123-8C>A rs1481421931 0.00007
NM_001267550.2(TTN):c.40141+6C>T rs750448649 0.00007
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile) rs780572853 0.00007
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734 0.00007
NM_001267550.2(TTN):c.43392G>A (p.Met14464Ile) rs370601384 0.00007
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54194G>A (p.Arg18065His) rs375895183 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.58122C>G (p.Thr19374=) rs189818369 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.64123G>A (p.Val21375Met) rs371670651 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 0.00007
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) rs182161195 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001267550.2(TTN):c.7891G>A (p.Val2631Ile) rs766753906 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys) rs762557803 0.00007
NM_001267550.2(TTN):c.88954G>A (p.Val29652Ile) rs756561910 0.00007
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg) rs753036867 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met) rs756469423 0.00007
NM_001267550.2(TTN):c.98225G>A (p.Gly32742Asp) rs201850303 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001378030.1(CCDC78):c.389G>A (p.Arg130Lys) rs375016420 0.00007
NM_001382567.1(STIM1):c.1729G>A (p.Glu577Lys) rs371443357 0.00007
NM_001382567.1(STIM1):c.488C>A (p.Ala163Asp) rs199893056 0.00007
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser) rs946201226 0.00007
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser) rs372338218 0.00007
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) rs374315921 0.00007
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=) rs754900547 0.00007
NM_001927.4(DES):c.*114G>T rs755277387 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_002469.3(MYF6):c.683C>T (p.Ser228Leu) rs201098963 0.00007
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_003289.4(TPM2):c.*99A>G rs879505630 0.00007
NM_004168.4(SDHA):c.290G>C (p.Arg97Thr) rs371274523 0.00007
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln) rs372970842 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) rs145447965 0.00007
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile) rs886044270 0.00007
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met) rs374544349 0.00007
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg) rs540867293 0.00007
NM_004544.4(NDUFA10):c.*1486C>T rs746931112 0.00007
NM_004551.3(NDUFS3):c.747G>A (p.Pro249=) rs3740654 0.00007
NM_004553.6(NDUFS6):c.229G>A (p.Val77Met) rs187737486 0.00007
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.1858-11C>A rs369454227 0.00007
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) rs781925329 0.00007
NM_015602.4(TOR1AIP1):c.1439G>A (p.Arg480His) rs745350340 0.00007
NM_015602.4(TOR1AIP1):c.281C>G (p.Ser94Cys) rs780616161 0.00007
NM_015602.4(TOR1AIP1):c.512C>T (p.Thr171Met) rs150816990 0.00007
NM_017534.6(MYH2):c.3683G>A (p.Ser1228Asn) rs147439455 0.00007
NM_017534.6(MYH2):c.4724A>C (p.Lys1575Thr) rs113713308 0.00007
NM_017534.6(MYH2):c.5171C>T (p.Thr1724Ile) rs202050465 0.00007
NM_017534.6(MYH2):c.5708G>A (p.Arg1903His) rs770302436 0.00007
NM_017534.6(MYH2):c.74T>C (p.Ile25Thr) rs372837852 0.00007
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) rs139086727 0.00007
NM_017547.4(FOXRED1):c.418-1G>T rs771941278 0.00007
NM_020451.3(SELENON):c.253A>G (p.Met85Val) rs761605974 0.00007
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=) rs757488156 0.00007
NM_025152.3(NUBPL):c.*1554A>G rs967796383 0.00007
NM_025152.3(NUBPL):c.*561G>A rs189555353 0.00007
NM_025152.3(NUBPL):c.*72T>C rs975175643 0.00007
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00007
NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly) rs773991025 0.00007
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val) rs201975081 0.00007
NM_032608.7(MYO18B):c.20T>G (p.Leu7Arg) rs376783532 0.00007
NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) rs375322787 0.00007
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_152393.4(KLHL40):c.125G>A (p.Arg42His) rs907216548 0.00007
NM_152393.4(KLHL40):c.1793G>A (p.Arg598Gln) rs775821505 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala) rs755987796 0.00007
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly) rs533891439 0.00007
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro) rs760877594 0.00007
NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val) rs369686744 0.00007
NM_199069.2(NDUFAF3):c.78-15C>G rs587781096 0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr) rs374353973 0.00007
NC_000012.12:g.121626779A>T rs1290572755 0.00006
NM_000036.3(AMPD1):c.1292G>A (p.Arg431His) rs61757695 0.00006
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met) rs776521726 0.00006
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile) rs377461013 0.00006
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg) rs147888089 0.00006
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr) rs144590408 0.00006
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) rs138708497 0.00006
NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met) rs200224590 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser) rs145039828 0.00006
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=) rs149036408 0.00006
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu) rs202120583 0.00006
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile) rs756066219 0.00006
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys) rs141556780 0.00006
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp) rs372689133 0.00006
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000182.5(HADHA):c.975+6C>T rs766717752 0.00006
NM_000183.2(HADHB):c.-176G>T rs574318006 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000183.3(HADHB):c.845G>A (p.Arg282His) rs140355426 0.00006
NM_000252.3(MTM1):c.481G>A (p.Val161Met) rs782744530 0.00006
NM_000257.4(MYH7):c.1179C>T (p.Ala393=) rs143293426 0.00006
NM_000257.4(MYH7):c.1888+8G>T rs200668471 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000334.4(SCN4A):c.*1057C>T rs886053242 0.00006
NM_000334.4(SCN4A):c.*2211C>T rs886053237 0.00006
NM_000334.4(SCN4A):c.-4G>A rs565414568 0.00006
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys) rs372631097 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000334.4(SCN4A):c.365G>A (p.Arg122His) rs374529559 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=) rs375607705 0.00006
NM_000334.4(SCN4A):c.45G>A (p.Glu15=) rs763166498 0.00006
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585 0.00006
NM_000334.4(SCN4A):c.4864G>A (p.Glu1622Lys) rs369430918 0.00006
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His) rs368186423 0.00006
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys) rs1045422843 0.00006
NM_000334.4(SCN4A):c.5128C>T (p.Pro1710Ser) rs762735966 0.00006
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp) rs373804267 0.00006
NM_000334.4(SCN4A):c.5495A>G (p.Lys1832Arg) rs778802285 0.00006
NM_000334.4(SCN4A):c.679C>T (p.Leu227Phe) rs368999500 0.00006
NM_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 0.00006
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.10280C>T (p.Pro3427Leu) rs775773632 0.00006
NM_000540.3(RYR1):c.10347C>T (p.His3449=) rs373702420 0.00006
NM_000540.3(RYR1):c.10442C>T (p.Ala3481Val) rs370630840 0.00006
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.10601C>T (p.Thr3534Met) rs146914779 0.00006
NM_000540.3(RYR1):c.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.10938-12T>A rs767711818 0.00006
NM_000540.3(RYR1):c.1172G>A (p.Arg391His) rs769387053 0.00006
NM_000540.3(RYR1):c.12398A>G (p.Glu4133Gly) rs201321695 0.00006
NM_000540.3(RYR1):c.12560G>A (p.Arg4187His) rs767099429 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2594A>T (p.His865Leu) rs371862065 0.00006
NM_000540.3(RYR1):c.2603G>A (p.Arg868His) rs750938678 0.00006
NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu) rs544742812 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.2998G>A (p.Val1000Met) rs138209392 0.00006
NM_000540.3(RYR1):c.3389G>A (p.Arg1130His) rs371498385 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00006
NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) rs141379562 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 0.00006
NM_000540.3(RYR1):c.5921G>A (p.Arg1974Gln) rs748907487 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=) rs199813873 0.00006
NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr) rs369194674 0.00006
NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met) rs781458272 0.00006
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=) rs770942162 0.00006
NM_000540.3(RYR1):c.9555-10C>T rs774666035 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu) rs966321446 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_001025389.2(AMPD3):c.*1536T>C rs866636048 0.00006
NM_001025389.2(AMPD3):c.1600G>A (p.Asp534Asn) rs750200570 0.00006
NM_001025389.2(AMPD3):c.2267C>G (p.Ala756Gly) rs144691269 0.00006
NM_001025389.2(AMPD3):c.2289C>T (p.Thr763=) rs138270366 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_001101362.3(KBTBD13):c.1107C>G (p.Ile369Met) rs757616268 0.00006
NM_001101362.3(KBTBD13):c.224A>C (p.Glu75Ala) rs755775428 0.00006
NM_001101362.3(KBTBD13):c.305C>A (p.Thr102Lys) rs1321779623 0.00006
NM_001101362.3(KBTBD13):c.43G>A (p.Gly15Ser) rs779819069 0.00006
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr) rs370677725 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*671A>G rs181474745 0.00006
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.10299C>G (p.Asp3433Glu) rs180847025 0.00006
NM_001164508.2(NEB):c.10419G>A (p.Met3473Ile) rs368842783 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.17118C>T (p.Asp5706=) rs769476760 0.00006
NM_001164508.2(NEB):c.17628C>T (p.Leu5876=) rs377183242 0.00006
NM_001164508.2(NEB):c.18166A>G (p.Arg6056Gly) rs779413062 0.00006
NM_001164508.2(NEB):c.18746A>G (p.Asn6249Ser) rs550191566 0.00006
NM_001164508.2(NEB):c.19139A>G (p.Lys6380Arg) rs757621444 0.00006
NM_001164508.2(NEB):c.19477G>A (p.Val6493Met) rs1233717326 0.00006
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr) rs751483486 0.00006
NM_001164508.2(NEB):c.19576G>A (p.Asp6526Asn) rs201731351 0.00006
NM_001164508.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651 0.00006
NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) rs775553284 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.20441G>A (p.Arg6814His) rs773584363 0.00006
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys) rs763554121 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile) rs140982447 0.00006
NM_001164508.2(NEB):c.2215A>G (p.Thr739Ala) rs754959175 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.2354A>G (p.His785Arg) rs370296542 0.00006
NM_001164508.2(NEB):c.2415T>C (p.Asp805=) rs566989836 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 0.00006
NM_001164508.2(NEB):c.2515A>G (p.Thr839Ala) rs779630318 0.00006
NM_001164508.2(NEB):c.25368G>A (p.Thr8456=) rs200083849 0.00006
NM_001164508.2(NEB):c.3520G>A (p.Ala1174Thr) rs756135837 0.00006
NM_001164508.2(NEB):c.4103G>A (p.Arg1368His) rs201984572 0.00006
NM_001164508.2(NEB):c.4469T>C (p.Met1490Thr) rs554984749 0.00006
NM_001164508.2(NEB):c.5300C>T (p.Pro1767Leu) rs370000978 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.5410G>A (p.Ala1804Thr) rs369275207 0.00006
NM_001164508.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223 0.00006
NM_001164508.2(NEB):c.6119A>G (p.Tyr2040Cys) rs756926807 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7696C>T (p.Arg2566Trp) rs368232288 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7875G>A (p.Lys2625=) rs577894144 0.00006
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln) rs557950249 0.00006
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=) rs183764569 0.00006
NM_001164508.2(NEB):c.8063A>G (p.His2688Arg) rs201119402 0.00006
NM_001164508.2(NEB):c.9055G>A (p.Ala3019Thr) rs370738668 0.00006
NM_001164508.2(NEB):c.9468T>C (p.Ile3156=) rs751747575 0.00006
NM_001164508.2(NEB):c.9529C>T (p.Arg3177Cys) rs758363933 0.00006
NM_001164508.2(NEB):c.9883C>T (p.Arg3295Trp) rs750990726 0.00006
NM_001256545.2(MEGF10):c.*187G>A rs1471426891 0.00006
NM_001256545.2(MEGF10):c.*2174T>C rs770022175 0.00006
NM_001256545.2(MEGF10):c.*602G>A rs753515395 0.00006
NM_001256545.2(MEGF10):c.1009G>A (p.Gly337Ser) rs779799530 0.00006
NM_001256545.2(MEGF10):c.1012G>A (p.Ala338Thr) rs568794084 0.00006
NM_001256545.2(MEGF10):c.1435G>A (p.Gly479Arg) rs372163689 0.00006
NM_001256545.2(MEGF10):c.2175C>T (p.Ser725=) rs558369303 0.00006
NM_001256545.2(MEGF10):c.2749G>C (p.Gly917Arg) rs779588329 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001256545.2(MEGF10):c.319C>T (p.Pro107Ser) rs200163743 0.00006
NM_001256545.2(MEGF10):c.350G>A (p.Arg117His) rs749238106 0.00006
NM_001256545.2(MEGF10):c.395G>A (p.Gly132Glu) rs765580552 0.00006
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=) rs148349018 0.00006
NM_001256545.2(MEGF10):c.451C>T (p.Arg151Trp) rs767672691 0.00006
NM_001267550.2(TTN):c.-118G>A rs886055310 0.00006
NM_001267550.2(TTN):c.100315T>C (p.Trp33439Arg) rs545443009 0.00006
NM_001267550.2(TTN):c.101218G>A (p.Gly33740Arg) rs536705240 0.00006
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623 0.00006
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val) rs149921607 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.102736C>T (p.Arg34246Cys) rs879047941 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103772G>A (p.Arg34591Gln) rs778021095 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile) rs727505306 0.00006
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020 0.00006
NM_001267550.2(TTN):c.10435G>A (p.Gly3479Arg) rs746691102 0.00006
NM_001267550.2(TTN):c.104561T>G (p.Val34854Gly) rs768717312 0.00006
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu) rs72629788 0.00006
NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val) rs1419052992 0.00006
NM_001267550.2(TTN):c.105413T>C (p.Met35138Thr) rs771741670 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.106025A>G (p.Tyr35342Cys) rs1060500560 0.00006
NM_001267550.2(TTN):c.106267G>T (p.Val35423Phe) rs763752622 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00006
NM_001267550.2(TTN):c.106926C>T (p.Gly35642=) rs761965591 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr) rs372276487 0.00006
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro) rs911182620 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His) rs377062348 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) rs201672969 0.00006
NM_001267550.2(TTN):c.17893T>C (p.Tyr5965His) rs752226947 0.00006
NM_001267550.2(TTN):c.19697G>C (p.Gly6566Ala) rs1052515116 0.00006
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val) rs763125654 0.00006
NM_001267550.2(TTN):c.24756T>G (p.Asp8252Glu) rs764248656 0.00006
NM_001267550.2(TTN):c.25231G>A (p.Val8411Ile) rs760523669 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.26506C>T (p.Pro8836Ser) rs776799144 0.00006
NM_001267550.2(TTN):c.27015T>C (p.Gly9005=) rs727503643 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.27709T>G (p.Ser9237Ala) rs766638714 0.00006
NM_001267550.2(TTN):c.28232G>A (p.Gly9411Glu) rs563866126 0.00006
NM_001267550.2(TTN):c.28462+11T>C rs563062273 0.00006
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00006
NM_001267550.2(TTN):c.29944G>A (p.Ala9982Thr) rs200745162 0.00006
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=) rs777315600 0.00006
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651 0.00006
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862 0.00006
NM_001267550.2(TTN):c.32161G>A (p.Ala10721Thr) rs753365187 0.00006
NM_001267550.2(TTN):c.32837A>T (p.Glu10946Val) rs763205133 0.00006
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met) rs368282893 0.00006
NM_001267550.2(TTN):c.33173-4G>A rs727504440 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001267550.2(TTN):c.36865C>A (p.Arg12289Ser) rs1480219250 0.00006
NM_001267550.2(TTN):c.37099C>G (p.Pro12367Ala) rs973940125 0.00006
NM_001267550.2(TTN):c.38161G>T (p.Val12721Leu) rs794729416 0.00006
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) rs368056479 0.00006
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe) rs774402932 0.00006
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) rs375519815 0.00006
NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala) rs370157162 0.00006
NM_001267550.2(TTN):c.39389C>T (p.Pro13130Leu) rs370520319 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala) rs764500643 0.00006
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser) rs774245300 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln) rs770389312 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.44848G>A (p.Asp14950Asn) rs571524382 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.45980G>A (p.Arg15327His) rs374697274 0.00006
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn) rs372881122 0.00006
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln) rs376747673 0.00006
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr) rs372911542 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.49560A>T (p.Lys16520Asn) rs779658426 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu) rs773271774 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.53002+10G>A rs370352450 0.00006
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624 0.00006
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln) rs758896047 0.00006
NM_001267550.2(TTN):c.53899T>A (p.Leu17967Met) rs761733751 0.00006
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) rs794729458 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00006
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln) rs202126861 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile) rs370118111 0.00006
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) rs141105443 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) rs370998052 0.00006
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp) rs753196873 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58208C>G (p.Ala19403Gly) rs573503792 0.00006
NM_001267550.2(TTN):c.58732+6C>T rs778350235 0.00006
NM_001267550.2(TTN):c.59341C>T (p.Leu19781Phe) rs555577161 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.59707G>C (p.Asp19903His) rs374163882 0.00006
NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu) rs727505345 0.00006
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn) rs369893671 0.00006
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268 0.00006
NM_001267550.2(TTN):c.61099C>T (p.Arg20367Trp) rs727504479 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.62679C>T (p.Gly20893=) rs188059075 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His) rs777176324 0.00006
NM_001267550.2(TTN):c.6420T>A (p.Asp2140Glu) rs777009984 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His) rs200217934 0.00006
NM_001267550.2(TTN):c.66105A>T (p.Lys22035Asn) rs373681189 0.00006
NM_001267550.2(TTN):c.66160+15C>T rs377288086 0.00006
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp) rs745719077 0.00006
NM_001267550.2(TTN):c.66589C>T (p.Arg22197Trp) rs774696610 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys) rs371105318 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.68341G>A (p.Glu22781Lys) rs760286642 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile) rs200878877 0.00006
NM_001267550.2(TTN):c.69251G>A (p.Arg23084Gln) rs200191748 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.70645G>A (p.Val23549Ile) rs755669336 0.00006
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) rs376256345 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln) rs750056949 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) rs201724962 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe) rs3813244 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00006
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His) rs370137092 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu) rs200489046 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His) rs374160272 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.851C>T (p.Ser284Leu) rs775566677 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) rs377264123 0.00006
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr) rs200724395 0.00006
NM_001267550.2(TTN):c.86903A>G (p.His28968Arg) rs754679595 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr) rs768292510 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.9195G>A (p.Lys3065=) rs780650145 0.00006
NM_001267550.2(TTN):c.919G>A (p.Val307Met) rs371056974 0.00006
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro) rs367807708 0.00006
NM_001267550.2(TTN):c.92151T>C (p.Tyr30717=) rs182422055 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val) rs570464905 0.00006
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr) rs373732722 0.00006
NM_001267550.2(TTN):c.9348C>G (p.Ile3116Met) rs760230943 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.94774G>A (p.Val31592Ile) rs370918800 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile) rs374445709 0.00006
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys) rs760762257 0.00006
NM_001267550.2(TTN):c.97949G>A (p.Cys32650Tyr) rs535612231 0.00006
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu) rs142108986 0.00006
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001368067.1(LDB3):c.324G>A (p.Val108=) rs397516556 0.00006
NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) rs377201153 0.00006
NM_001377299.1(NDUFS2):c.337A>G (p.Ile113Val) rs754241926 0.00006
NM_001378030.1(CCDC78):c.432C>G (p.Phe144Leu) rs144640928 0.00006
NM_001378030.1(CCDC78):c.554C>T (p.Thr185Met) rs142129985 0.00006
NM_001378030.1(CCDC78):c.620G>A (p.Arg207Gln) rs368147684 0.00006
NM_001382567.1(STIM1):c.1937G>A (p.Arg646His) rs145197758 0.00006
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val) rs1371853934 0.00006
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys) rs138663492 0.00006
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu) rs747587140 0.00006
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) rs777061037 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) rs573923461 0.00006
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) rs201782849 0.00006
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) rs200796487 0.00006
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg) rs773305634 0.00006
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val) rs149305190 0.00006
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys) rs751779784 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001849.4(COL6A2):c.1053+6G>A rs373181368 0.00006
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln) rs368588676 0.00006
NM_001849.4(COL6A2):c.2422+6C>T rs371950486 0.00006
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln) rs777354703 0.00006
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser) rs750027302 0.00006
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His) rs544436881 0.00006
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala) rs757315161 0.00006
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.3650C>T (p.Ala1217Val) rs199751339 0.00006
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser) rs934514080 0.00006
NM_003283.6(TNNT1):c.487G>A (p.Gly163Ser) rs374891900 0.00006
NM_003283.6(TNNT1):c.791+12C>T rs201143291 0.00006
NM_004168.4(SDHA):c.*102G>A rs1009017730 0.00006
NM_004168.4(SDHA):c.1064+5G>A rs200021115 0.00006
NM_004168.4(SDHA):c.1183G>T (p.Val395Phe) rs748683825 0.00006
NM_004168.4(SDHA):c.287C>T (p.Thr96Ile) rs377620054 0.00006
NM_004168.4(SDHA):c.644A>G (p.Tyr215Cys) rs781660628 0.00006
NM_004168.4(SDHA):c.994C>G (p.Pro332Ala) rs373509391 0.00006
NM_004281.4(BAG3):c.-285C>A rs866276705 0.00006
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn) rs140251789 0.00006
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys) rs747583925 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser) rs201487919 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004369.4(COL6A3):c.3944C>T (p.Ala1315Val) rs778458923 0.00006
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu) rs372281922 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln) rs895701604 0.00006
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser) rs144152285 0.00006
NM_004369.4(COL6A3):c.9116C>T (p.Thr3039Met) rs116655315 0.00006
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro) rs373259425 0.00006
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His) rs369193482 0.00006
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=) rs552834799 0.00006
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn) rs368397177 0.00006
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe) rs763858637 0.00006
NM_004370.6(COL12A1):c.7698-3C>T rs760246080 0.00006
NM_004544.4(NDUFA10):c.*3205G>A rs886055811 0.00006
NM_004544.4(NDUFA10):c.*361A>G rs778261754 0.00006
NM_004550.5(NDUFS2):c.-156G>A rs886045457 0.00006
NM_004551.3(NDUFS3):c.783T>C (p.Pro261=) rs117981655 0.00006
NM_004551.3(NDUFS3):c.79C>T (p.Pro27Ser) rs368907187 0.00006
NM_004553.6(NDUFS6):c.155G>C (p.Arg52Thr) rs768060274 0.00006
NM_004553.6(NDUFS6):c.336C>T (p.Cys112=) rs149406977 0.00006
NM_005006.7(NDUFS1):c.1969G>A (p.Asp657Asn) rs769276632 0.00006
NM_005138.3(SCO2):c.-83A>G rs886057632 0.00006
NM_005876.5(SPEG):c.4883C>T (p.Ala1628Val) rs199971371 0.00006
NM_005876.5(SPEG):c.4927C>T (p.Arg1643Cys) rs570861370 0.00006
NM_006063.3(KLHL41):c.1421A>G (p.Asp474Gly) rs145810515 0.00006
NM_006063.3(KLHL41):c.1757G>A (p.Arg586His) rs762482219 0.00006
NM_006063.3(KLHL41):c.175C>T (p.Arg59Cys) rs547547946 0.00006
NM_006790.3(MYOT):c.-165C>T rs866748883 0.00006
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_007078.3(LDB3):c.1430A>G (p.Tyr477Cys) rs529178109 0.00006
NM_007078.3(LDB3):c.344G>A (p.Gly115Asp) rs767658173 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp) rs369398522 0.00006
NM_007078.3(LDB3):c.897-6745C>T rs746256049 0.00006
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) rs376958800 0.00006
NM_007103.4(NDUFV1):c.1327C>T (p.Arg443Trp) rs778206888 0.00006
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr) rs768257163 0.00006
NM_015602.4(TOR1AIP1):c.1210C>T (p.Arg404Trp) rs541059100 0.00006
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val) rs376697448 0.00006
NM_015602.4(TOR1AIP1):c.301G>A (p.Glu101Lys) rs376720897 0.00006
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys) rs749592068 0.00006
NM_015602.4(TOR1AIP1):c.463C>T (p.His155Tyr) rs540366779 0.00006
NM_017534.6(MYH2):c.1359G>C (p.Lys453Asn) rs138998538 0.00006
NM_017534.6(MYH2):c.2391G>T (p.Arg797Ser) rs374943306 0.00006
NM_017534.6(MYH2):c.3067G>C (p.Val1023Leu) rs201925793 0.00006
NM_017534.6(MYH2):c.3403C>T (p.Arg1135Trp) rs200134368 0.00006
NM_017534.6(MYH2):c.3701T>C (p.Ile1234Thr) rs143809867 0.00006
NM_017534.6(MYH2):c.3709C>T (p.Leu1237Phe) rs138265883 0.00006
NM_017534.6(MYH2):c.3719A>G (p.Asn1240Ser) rs779830887 0.00006
NM_017534.6(MYH2):c.3889C>G (p.Leu1297Val) rs777266089 0.00006
NM_017534.6(MYH2):c.4213G>T (p.Ala1405Ser) rs199632177 0.00006
NM_017534.6(MYH2):c.4361A>G (p.Asn1454Ser) rs371923594 0.00006
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys) rs144934663 0.00006
NM_017534.6(MYH2):c.5378A>C (p.Glu1793Ala) rs912089271 0.00006
NM_020451.3(SELENON):c.1078G>A (p.Gly360Ser) rs761873230 0.00006
NM_020451.3(SELENON):c.1191G>T (p.Gln397His) rs1311923186 0.00006
NM_020451.3(SELENON):c.1636A>G (p.Ile546Val) rs749237378 0.00006
NM_021074.5(NDUFV2):c.510T>C (p.Thr170=) rs201074358 0.00006
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val) rs181848049 0.00006
NM_032608.7(MYO18B):c.3527C>T (p.Pro1176Leu) rs533353146 0.00006
NM_078470.6(COX15):c.1015G>A (p.Val339Met) rs141830307 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14321A>G (p.Lys4774Arg) rs768589711 0.00006
NM_133379.5(TTN):c.16582G>A (p.Gly5528Ser) rs762590088 0.00006
NM_138638.5(CFL2):c.*1885C>T rs775859581 0.00006
NM_138638.5(CFL2):c.*293G>A rs774843860 0.00006
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.-163T>C rs560690864 0.00006
NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) rs558530329 0.00006
NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) rs747660857 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.1462-3C>T rs200384643 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_139343.3(BIN1):c.791A>G (p.Asn264Ser) rs766319258 0.00006
NM_145064.3(STAC3):c.636G>C (p.Glu212Asp) rs201567526 0.00006
NM_152263.4(TPM3):c.*1967C>T rs910205963 0.00006
NM_152393.4(KLHL40):c.1306G>A (p.Asp436Asn) rs372145157 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_152393.4(KLHL40):c.1477C>G (p.Leu493Val) rs375270697 0.00006
NM_152393.4(KLHL40):c.182G>A (p.Arg61His) rs778276929 0.00006
NM_152393.4(KLHL40):c.355A>G (p.Ile119Val) rs1245898945 0.00006
NM_174889.4(NDUFAF2):c.-66G>C rs376045901 0.00006
NM_175614.4(NDUFA11):c.-282T>C rs779432735 0.00006
NM_175614.5(NDUFA11):c.*63G>A rs749166288 0.00006
NM_175614.5(NDUFA11):c.205G>A (p.Val69Met) rs774174896 0.00006
NM_198271.5(LMOD3):c.660G>C (p.Lys220Asn) rs778737371 0.00006
NM_198859.4(PRICKLE2):c.1457T>C (p.Met486Thr) rs751661338 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His) rs565155814 0.00006
NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln) rs775154480 0.00006
NC_000012.12:g.121641463C>G rs782656834 0.00005
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) rs587779370 0.00005
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln) rs763360081 0.00005
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=) rs146400205 0.00005
NM_000069.3(CACNA1S):c.1619+16G>A rs148454228 0.00005
NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) rs756131999 0.00005
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala) rs149195094 0.00005
NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) rs374324813 0.00005
NM_000069.3(CACNA1S):c.398+3G>A rs764710968 0.00005
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu) rs371849585 0.00005
NM_000083.3(CLCN1):c.2550C>T (p.Tyr850=) rs775384507 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000183.3(HADHB):c.1000A>C (p.Lys334Gln) rs774054520 0.00005
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln) rs368575559 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4519+6C>T rs370779504 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp) rs730880828 0.00005
NM_000334.4(SCN4A):c.*1572T>G rs771871843 0.00005
NM_000334.4(SCN4A):c.*754T>C rs574113483 0.00005
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883 0.00005
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys) rs150158100 0.00005
NM_000334.4(SCN4A):c.386T>C (p.Ile129Thr) rs369652972 0.00005
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529 0.00005
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu) rs528225943 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys) rs890373465 0.00005
NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp) rs140686309 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.3352G>A (p.Glu1118Lys) rs578234912 0.00005
NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890 0.00005
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile) rs201174268 0.00005
NM_000540.3(RYR1):c.4236C>G (p.His1412Gln) rs146206507 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109 0.00005
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=) rs371006370 0.00005
NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876 0.00005
NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys) rs202111332 0.00005
NM_000540.3(RYR1):c.767G>A (p.Arg256His) rs772767943 0.00005
NM_000540.3(RYR1):c.7699C>T (p.Pro2567Ser) rs374982449 0.00005
NM_000540.3(RYR1):c.7844G>A (p.Arg2615His) rs145183043 0.00005
NM_000540.3(RYR1):c.7854G>A (p.Met2618Ile) rs775112172 0.00005
NM_000540.3(RYR1):c.8162C>T (p.Ser2721Phe) rs781377124 0.00005
NM_000540.3(RYR1):c.9555-4C>T rs1417337927 0.00005
NM_000540.3(RYR1):c.9874C>T (p.Pro3292Ser) rs144135230 0.00005
NM_001025389.2(AMPD3):c.*771C>T rs746976193 0.00005
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_001101362.3(KBTBD13):c.1333C>T (p.Pro445Ser) rs778885479 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101362.3(KBTBD13):c.812C>T (p.Pro271Leu) rs944158562 0.00005
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001151.4(SLC25A4):c.-46G>A rs763271934 0.00005
NM_001164508.2(NEB):c.10075G>A (p.Glu3359Lys) rs374359052 0.00005
NM_001164508.2(NEB):c.10589A>T (p.Gln3530Leu) rs573693040 0.00005
NM_001164508.2(NEB):c.10675C>T (p.Arg3559Cys) rs751938843 0.00005
NM_001164508.2(NEB):c.10988G>A (p.Arg3663His) rs550715282 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.11182-8T>A rs183088493 0.00005
NM_001164508.2(NEB):c.11612A>G (p.Lys3871Arg) rs761955993 0.00005
NM_001164508.2(NEB):c.12596C>T (p.Pro4199Leu) rs1365594299 0.00005
NM_001164508.2(NEB):c.12769C>T (p.Arg4257Cys) rs1376744526 0.00005
NM_001164508.2(NEB):c.13059+4C>T rs1253831275 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001164508.2(NEB):c.17024G>A (p.Arg5675His) rs373850451 0.00005
NM_001164508.2(NEB):c.17376_17381del (p.Met5792_Asp5794delinsIle) rs765184893 0.00005
NM_001164508.2(NEB):c.17900C>T (p.Thr5967Met) rs778982089 0.00005
NM_001164508.2(NEB):c.18694-3T>C rs370200484 0.00005
NM_001164508.2(NEB):c.19315-4A>G rs778306769 0.00005
NM_001164508.2(NEB):c.19899C>T (p.Thr6633=) rs370742146 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.22131C>G (p.His7377Gln) rs777069125 0.00005
NM_001164508.2(NEB):c.2249C>T (p.Thr750Met) rs757505325 0.00005
NM_001164508.2(NEB):c.23555C>T (p.Ser7852Leu) rs200454939 0.00005
NM_001164508.2(NEB):c.24044G>A (p.Gly8015Glu) rs772083580 0.00005
NM_001164508.2(NEB):c.252C>T (p.Pro84=) rs201735545 0.00005
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr) rs753428817 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001164508.2(NEB):c.4612G>C (p.Ala1538Pro) rs781263453 0.00005
NM_001164508.2(NEB):c.6488A>G (p.Gln2163Arg) rs200813844 0.00005
NM_001164508.2(NEB):c.6614G>A (p.Arg2205His) rs752349680 0.00005
NM_001164508.2(NEB):c.7185C>T (p.Asn2395=) rs775336786 0.00005
NM_001164508.2(NEB):c.7246C>G (p.Leu2416Val) rs747337656 0.00005
NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) rs781745506 0.00005
NM_001164508.2(NEB):c.9388C>T (p.Arg3130Trp) rs779778326 0.00005
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=) rs751813170 0.00005
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp) rs754251946 0.00005
NM_001256545.2(MEGF10):c.2364G>C (p.Lys788Asn) rs554750220 0.00005
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=) rs144450528 0.00005
NM_001256545.2(MEGF10):c.3277C>T (p.Arg1093Cys) rs758348725 0.00005
NM_001256545.2(MEGF10):c.482A>G (p.Asn161Ser) rs919641160 0.00005
NM_001256545.2(MEGF10):c.522G>A (p.Arg174=) rs201076330 0.00005
NM_001256545.2(MEGF10):c.916C>T (p.Arg306Trp) rs371078929 0.00005
NM_001256545.2(MEGF10):c.917G>A (p.Arg306Gln) rs986353158 0.00005
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His) rs192391568 0.00005
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His) rs753658469 0.00005
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=) rs72629781 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.10204G>A (p.Glu3402Lys) rs766262957 0.00005
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys) rs886039007 0.00005
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu) rs528796532 0.00005
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg) rs191522469 0.00005
NM_001267550.2(TTN):c.103786C>T (p.Arg34596Cys) rs372754970 0.00005
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln) rs199642423 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro) rs774004409 0.00005
NM_001267550.2(TTN):c.106585A>C (p.Thr35529Pro) rs372116188 0.00005
NM_001267550.2(TTN):c.107080C>G (p.Leu35694Val) rs769369764 0.00005
NM_001267550.2(TTN):c.11362G>A (p.Glu3788Lys) rs540469851 0.00005
NM_001267550.2(TTN):c.11855G>A (p.Gly3952Glu) rs779033634 0.00005
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met) rs754231728 0.00005
NM_001267550.2(TTN):c.14662C>G (p.Pro4888Ala) rs376799249 0.00005
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.15253G>A (p.Asp5085Asn) rs374299783 0.00005
NM_001267550.2(TTN):c.15453T>C (p.Asn5151=) rs201343844 0.00005
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu) rs769165258 0.00005
NM_001267550.2(TTN):c.18684T>C (p.Phe6228=) rs368427156 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.20354C>T (p.Ser6785Leu) rs201586695 0.00005
NM_001267550.2(TTN):c.208G>A (p.Val70Met) rs772248060 0.00005
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn) rs727505052 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.24157G>A (p.Gly8053Ser) rs374167223 0.00005
NM_001267550.2(TTN):c.24358C>T (p.Pro8120Ser) rs745913661 0.00005
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) rs772596633 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His) rs773986121 0.00005
NM_001267550.2(TTN):c.28466G>A (p.Arg9489Gln) rs189431308 0.00005
NM_001267550.2(TTN):c.30230C>T (p.Pro10077Leu) rs374075627 0.00005
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00005
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala) rs940553223 0.00005
NM_001267550.2(TTN):c.31762G>A (p.Val10588Ile) rs372371333 0.00005
NM_001267550.2(TTN):c.32555-2A>C rs781581062 0.00005
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu) rs397517543 0.00005
NM_001267550.2(TTN):c.33049G>A (p.Glu11017Lys) rs753930002 0.00005
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser) rs565328082 0.00005
NM_001267550.2(TTN):c.34538-12A>G rs376626305 0.00005
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00005
NM_001267550.2(TTN):c.39427G>A (p.Val13143Ile) rs375956503 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) rs752970602 0.00005
NM_001267550.2(TTN):c.42023C>T (p.Pro14008Leu) rs751709914 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.43355G>T (p.Arg14452Ile) rs528741819 0.00005
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His) rs746380621 0.00005
NM_001267550.2(TTN):c.44229G>A (p.Gly14743=) rs376445406 0.00005
NM_001267550.2(TTN):c.44542G>A (p.Val14848Met) rs759373140 0.00005
NM_001267550.2(TTN):c.44900G>A (p.Arg14967Gln) rs752671402 0.00005
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) rs760251812 0.00005
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) rs150364979 0.00005
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile) rs138931943 0.00005
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp) rs147695336 0.00005
NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr) rs886042536 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.51359G>A (p.Arg17120His) rs778885931 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp) rs764950995 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.56875T>A (p.Tyr18959Asn) rs753144774 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.59074A>G (p.Thr19692Ala) rs771977738 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val) rs1187337182 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys) rs371060708 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys) rs756303390 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu) rs534340303 0.00005
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu) rs756671149 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=) rs375183437 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.74305A>G (p.Asn24769Asp) rs372787601 0.00005
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val) rs370857722 0.00005
NM_001267550.2(TTN):c.78431T>C (p.Ile26144Thr) rs183015944 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.81217C>T (p.Pro27073Ser) rs542799302 0.00005
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His) rs371910831 0.00005
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670 0.00005
NM_001267550.2(TTN):c.83630G>A (p.Arg27877His) rs371345921 0.00005
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp) rs377540780 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg) rs545841306 0.00005
NM_001267550.2(TTN):c.84964C>T (p.Arg28322Cys) rs774978209 0.00005
NM_001267550.2(TTN):c.86448C>A (p.Asn28816Lys) rs774349799 0.00005
NM_001267550.2(TTN):c.86983G>A (p.Ala28995Thr) rs774191975 0.00005
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser) rs761251825 0.00005
NM_001267550.2(TTN):c.87449T>C (p.Ile29150Thr) rs373106927 0.00005
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile) rs761591533 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.9509T>C (p.Val3170Ala) rs779339626 0.00005
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala) rs755949122 0.00005
NM_001267550.2(TTN):c.96182T>C (p.Ile32061Thr) rs376202976 0.00005
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr) rs376039623 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu) rs965156924 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00005
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) rs534473091 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr) rs755513516 0.00005
NM_001377299.1(NDUFS2):c.1367T>C (p.Ile456Thr) rs140731056 0.00005
NM_001378030.1(CCDC78):c.683A>C (p.Glu228Ala) rs749951287 0.00005
NM_001378030.1(CCDC78):c.711G>C (p.Lys237Asn) rs143439721 0.00005
NM_001378030.1(CCDC78):c.730G>A (p.Val244Ile) rs752077571 0.00005
NM_001382567.1(STIM1):c.1394G>A (p.Arg465His) rs375914426 0.00005
NM_001382567.1(STIM1):c.1681C>T (p.Arg561Cys) rs142239530 0.00005
NM_001382567.1(STIM1):c.1765C>T (p.Arg589Trp) rs747547917 0.00005
NM_001458.5(FLNC):c.2272G>A (p.Val758Met) rs371418145 0.00005
NM_001458.5(FLNC):c.2425G>A (p.Val809Met) rs775770671 0.00005
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu) rs963838554 0.00005
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser) rs201335143 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys) rs965589915 0.00005
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp) rs745648230 0.00005
NM_001458.5(FLNC):c.517G>T (p.Val173Leu) rs376235207 0.00005
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp) rs374794518 0.00005
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His) rs769284324 0.00005
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr) rs537681547 0.00005
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile) rs768847583 0.00005
NM_001843.4(CNTN1):c.495A>G (p.Pro165=) rs751830078 0.00005
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser) rs11701912 0.00005
NM_001849.4(COL6A2):c.116-3C>T rs767597831 0.00005
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser) rs1035908319 0.00005
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp) rs747089603 0.00005
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) rs774521989 0.00005
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr) rs771749652 0.00005
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys) rs374196682 0.00005
NM_001849.4(COL6A2):c.638G>A (p.Arg213His) rs368064647 0.00005
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_003283.6(TNNT1):c.*129C>G rs1014566207 0.00005
NM_003283.6(TNNT1):c.551G>A (p.Arg184His) rs759548188 0.00005
NM_003283.6(TNNT1):c.725C>T (p.Ala242Val) rs779112211 0.00005
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004168.4(SDHA):c.1934T>C (p.Ile645Thr) rs1282623859 0.00005
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala) rs772325115 0.00005
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys) rs747820097 0.00005
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu) rs368866313 0.00005
NM_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu) rs754323567 0.00005
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys) rs144451523 0.00005
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe) rs199992321 0.00005
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val) rs199757996 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu) rs370090007 0.00005
NM_004544.4(NDUFA10):c.354C>T (p.Tyr118=) rs118106981 0.00005
NM_004544.4(NDUFA10):c.41C>G (p.Ser14Cys) rs928084265 0.00005
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) rs957169726 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln) rs762985970 0.00005
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser) rs771007816 0.00005
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly) rs567014755 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007078.3(LDB3):c.897-6665C>T rs549156118 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_014165.4(NDUFAF4):c.*1481T>C rs772264922 0.00005
NM_014165.4(NDUFAF4):c.*1487A>G rs748437516 0.00005
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met) rs376847458 0.00005
NM_015602.4(TOR1AIP1):c.55G>A (p.Val19Ile) rs760887402 0.00005
NM_015602.4(TOR1AIP1):c.638A>G (p.Asn213Ser) rs200495464 0.00005
NM_015713.5(RRM2B):c.48+156G>A rs773501860 0.00005
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) rs147315735 0.00005
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_017534.6(MYH2):c.3425G>A (p.Arg1142His) rs781136210 0.00005
NM_017534.6(MYH2):c.3751C>G (p.Leu1251Val) rs774428848 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_017534.6(MYH2):c.3883C>T (p.Arg1295Cys) rs370424529 0.00005
NM_017534.6(MYH2):c.4049G>A (p.Arg1350Gln) rs145438977 0.00005
NM_017534.6(MYH2):c.5002C>T (p.Arg1668Trp) rs569489518 0.00005
NM_017534.6(MYH2):c.5282C>T (p.Ala1761Val) rs377385495 0.00005
NM_017534.6(MYH2):c.5512C>T (p.Arg1838Cys) rs368695212 0.00005
NM_017547.4(FOXRED1):c.35G>C (p.Arg12Pro) rs375454069 0.00005
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728 0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met) rs762798018 0.00005
NM_020451.3(SELENON):c.989G>A (p.Arg330Gln) rs758037272 0.00005
NM_024120.5(NDUFAF5):c.1020G>A (p.Pro340=) rs745871040 0.00005
NM_025152.3(NUBPL):c.*1840A>G rs886050471 0.00005
NM_025152.3(NUBPL):c.*355T>C rs886050452 0.00005
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) rs751219189 0.00005
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148 0.00005
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998 0.00005
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099 0.00005
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr) rs144967245 0.00005
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp) rs201308378 0.00005
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser) rs182516675 0.00005
NM_139343.3(BIN1):c.1131+9C>T rs138606879 0.00005
NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) rs140410496 0.00005
NM_139343.3(BIN1):c.1525G>A (p.Gly509Ser) rs745758782 0.00005
NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) rs147655157 0.00005
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_145064.3(STAC3):c.545G>A (p.Arg182His) rs200605475 0.00005
NM_152263.4(TPM3):c.*2298T>C rs201157203 0.00005
NM_152263.4(TPM3):c.*974C>T rs534731616 0.00005
NM_152263.4(TPM3):c.327T>G (p.Thr109=) rs764255899 0.00005
NM_152393.4(KLHL40):c.1595T>C (p.Ile532Thr) rs368161576 0.00005
NM_174889.5(NDUFAF2):c.196G>C (p.Asp66His) rs769579395 0.00005
NM_198859.4(PRICKLE2):c.1406G>A (p.Arg469Gln) rs746640172 0.00005
NM_198859.4(PRICKLE2):c.1601C>T (p.Thr534Met) rs559885674 0.00005
NC_000012.12:g.121641419G>A rs377456337 0.00004
NC_000012.12:g.121641608G>C rs781960958 0.00004
NM_000036.3(AMPD1):c.-33T>C rs747318529 0.00004
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys) rs139512772 0.00004
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His) rs146437677 0.00004
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn) rs149160130 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) rs376201207 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) rs201737381 0.00004
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys) rs532351874 0.00004
NM_000069.3(CACNA1S):c.1948+11G>A rs199852936 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) rs575247457 0.00004
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile) rs76460090 0.00004
NM_000069.3(CACNA1S):c.3286C>T (p.Arg1096Cys) rs781178565 0.00004
NM_000069.3(CACNA1S):c.3416A>C (p.His1139Pro) rs756628359 0.00004
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) rs775009783 0.00004
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn) rs372383822 0.00004
NM_000069.3(CACNA1S):c.4543+4G>A rs776190353 0.00004
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930 0.00004
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) rs186538122 0.00004
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile) rs138205421 0.00004
NM_000083.3(CLCN1):c.157C>T (p.Arg53Cys) rs767366093 0.00004
NM_000182.5(HADHA):c.1003G>A (p.Glu335Lys) rs769821069 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.316A>G (p.Met106Val) rs143122454 0.00004
NM_000182.5(HADHA):c.323C>A (p.Ala108Asp) rs762296285 0.00004
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00004
NM_000182.5(HADHA):c.896C>A (p.Pro299His) rs905722226 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000183.3(HADHB):c.266A>G (p.His89Arg) rs373356931 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000252.3(MTM1):c.1383A>G (p.Gln461=) rs782410861 0.00004
NM_000257.4(MYH7):c.1368C>T (p.Phe456=) rs766216871 0.00004
NM_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.28G>C (p.Gly10Arg) rs199577321 0.00004
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp) rs747198710 0.00004
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val) rs768393069 0.00004
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu) rs767000995 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000257.4(MYH7):c.4410G>A (p.Ser1470=) rs578166720 0.00004
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) rs730880808 0.00004
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr) rs145822086 0.00004
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00004
NM_000334.4(SCN4A):c.*1172G>A rs540304010 0.00004
NM_000334.4(SCN4A):c.-74G>A rs546675124 0.00004
NM_000334.4(SCN4A):c.113G>A (p.Arg38Gln) rs772546656 0.00004
NM_000334.4(SCN4A):c.121C>T (p.Arg41Trp) rs558855276 0.00004
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile) rs527384137 0.00004
NM_000334.4(SCN4A):c.1583G>T (p.Ser528Ile) rs906634749 0.00004
NM_000334.4(SCN4A):c.1606+3G>T rs377617612 0.00004
NM_000334.4(SCN4A):c.1808C>G (p.Thr603Arg) rs767603831 0.00004
NM_000334.4(SCN4A):c.1917G>T (p.Gln639His) rs375403086 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=) rs375596512 0.00004
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr) rs770694096 0.00004
NM_000334.4(SCN4A):c.2626G>A (p.Glu876Lys) rs886053247 0.00004
NM_000334.4(SCN4A):c.3185G>A (p.Arg1062His) rs769704334 0.00004
NM_000334.4(SCN4A):c.3835A>G (p.Ile1279Val) rs367610608 0.00004
NM_000334.4(SCN4A):c.4289-4G>A rs750364111 0.00004
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=) rs752523459 0.00004
NM_000334.4(SCN4A):c.4648C>T (p.Pro1550Ser) rs957397485 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His) rs199944673 0.00004
NM_000334.4(SCN4A):c.5233C>T (p.Arg1745Cys) rs749841448 0.00004
NM_000334.4(SCN4A):c.5264G>A (p.Arg1755His) rs373278632 0.00004
NM_000334.4(SCN4A):c.574C>T (p.Pro192Ser) rs751749964 0.00004
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met) rs201661188 0.00004
NM_000334.4(SCN4A):c.857C>T (p.Pro286Leu) rs760518441 0.00004
NM_000334.4(SCN4A):c.865G>A (p.Asp289Asn) rs376680315 0.00004
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu) rs730880945 0.00004
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.10505G>A (p.Arg3502Gln) rs369422480 0.00004
NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met) rs371839408 0.00004
NM_000540.3(RYR1):c.10577C>T (p.Ala3526Val) rs374061380 0.00004
NM_000540.3(RYR1):c.11023G>C (p.Asp3675His) rs145026307 0.00004
NM_000540.3(RYR1):c.11778+3G>C rs758215068 0.00004
NM_000540.3(RYR1):c.12028G>A (p.Glu4010Lys) rs755088027 0.00004
NM_000540.3(RYR1):c.12210T>G (p.Ile4070Met) rs765758001 0.00004
NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser) rs769120898 0.00004
NM_000540.3(RYR1):c.12324G>C (p.Gln4108His) rs762061959 0.00004
NM_000540.3(RYR1):c.12823G>A (p.Ala4275Thr) rs761125496 0.00004
NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr) rs959143903 0.00004
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu) rs994374423 0.00004
NM_000540.3(RYR1):c.13465C>T (p.Pro4489Ser) rs781766697 0.00004
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val) rs143988412 0.00004
NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met) rs148540135 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys) rs753907367 0.00004
NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr) rs552148844 0.00004
NM_000540.3(RYR1):c.1955C>T (p.Ala652Val) rs757908433 0.00004
NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala) rs763679528 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys) rs750233243 0.00004
NM_000540.3(RYR1):c.2653C>T (p.Arg885Cys) rs775256033 0.00004
NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys) rs766827383 0.00004
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=) rs143891703 0.00004
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys) rs139006437 0.00004
NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp) rs368950468 0.00004
NM_000540.3(RYR1):c.3380G>A (p.Arg1127His) rs545579559 0.00004
NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr) rs761386401 0.00004
NM_000540.3(RYR1):c.3568G>A (p.Val1190Ile) rs749283427 0.00004
NM_000540.3(RYR1):c.3853A>G (p.Met1285Val) rs752075589 0.00004
NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr) rs766147636 0.00004
NM_000540.3(RYR1):c.4213C>A (p.Pro1405Thr) rs376567445 0.00004
NM_000540.3(RYR1):c.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys) rs543630280 0.00004
NM_000540.3(RYR1):c.4759G>A (p.Ala1587Thr) rs1030955858 0.00004
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys) rs371777056 0.00004
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser) rs202225176 0.00004
NM_000540.3(RYR1):c.6385G>A (p.Asp2129Asn) rs772695891 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln) rs144526634 0.00004
NM_000540.3(RYR1):c.721C>T (p.Arg241Cys) rs751622747 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.872C>T (p.Ala291Val) rs200572262 0.00004
NM_000540.3(RYR1):c.9091G>A (p.Ala3031Thr) rs756311466 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00004
NM_001005361.3(DNM2):c.-116C>T rs966672075 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001025389.2(AMPD3):c.1824C>T (p.His608=) rs201980416 0.00004
NM_001025389.2(AMPD3):c.362C>T (p.Thr121Met) rs780348844 0.00004
NM_001025389.2(AMPD3):c.500G>T (p.Arg167Leu) rs764108261 0.00004
NM_001025389.2(AMPD3):c.600T>G (p.Pro200=) rs200373616 0.00004
NM_001025389.2(AMPD3):c.7C>T (p.Arg3Trp) rs148904594 0.00004
NM_001025389.2(AMPD3):c.939+13C>T rs776606981 0.00004
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala) rs201310633 0.00004
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_001042631.3(SDHAF1):c.*329G>C rs886054355 0.00004
NM_001042631.3(SDHAF1):c.117T>C (p.His39=) rs754546603 0.00004
NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser) rs956984428 0.00004
NM_001101362.3(KBTBD13):c.*1276G>T rs886051344 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001101362.3(KBTBD13):c.483C>A (p.Ser161Arg) rs1464339145 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*3336G>A rs925362228 0.00004
NM_001151.4(SLC25A4):c.*448G>A rs767635362 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001159702.3(FHL1):c.-101+3A>G rs895540444 0.00004
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) rs768708852 0.00004
NM_001164508.2(NEB):c.10146C>G (p.Asn3382Lys) rs374471394 0.00004
NM_001164508.2(NEB):c.1015G>A (p.Ala339Thr) rs762993577 0.00004
NM_001164508.2(NEB):c.10268C>T (p.Pro3423Leu) rs753198978 0.00004
NM_001164508.2(NEB):c.11005C>A (p.Leu3669Met) rs775362248 0.00004
NM_001164508.2(NEB):c.1152C>T (p.Asp384=) rs767328072 0.00004
NM_001164508.2(NEB):c.11763G>A (p.Pro3921=) rs554366790 0.00004
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met) rs759624618 0.00004
NM_001164508.2(NEB):c.12062T>C (p.Ile4021Thr) rs370068571 0.00004
NM_001164508.2(NEB):c.12537A>G (p.Lys4179=) rs753569565 0.00004
NM_001164508.2(NEB):c.12790A>G (p.Met4264Val) rs1363996930 0.00004
NM_001164508.2(NEB):c.16790C>G (p.Ala5597Gly) rs777969701 0.00004
NM_001164508.2(NEB):c.17048C>T (p.Ala5683Val) rs761829162 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.18115G>A (p.Asp6039Asn) rs377076154 0.00004
NM_001164508.2(NEB):c.18885G>A (p.Leu6295=) rs141925015 0.00004
NM_001164508.2(NEB):c.19110T>C (p.Tyr6370=) rs771969348 0.00004
NM_001164508.2(NEB):c.19214A>G (p.Tyr6405Cys) rs368240939 0.00004
NM_001164508.2(NEB):c.19430G>A (p.Arg6477His) rs762108795 0.00004
NM_001164508.2(NEB):c.1953G>A (p.Glu651=) rs367997645 0.00004
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=) rs141526973 0.00004
NM_001164508.2(NEB):c.19989A>T (p.Arg6663Ser) rs755153044 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.20132G>A (p.Arg6711Gln) rs781250495 0.00004
NM_001164508.2(NEB):c.20260G>A (p.Glu6754Lys) rs776334631 0.00004
NM_001164508.2(NEB):c.20417T>C (p.Leu6806Pro) rs767873861 0.00004
NM_001164508.2(NEB):c.20577+6G>A rs775513148 0.00004
NM_001164508.2(NEB):c.20834C>T (p.Pro6945Leu) rs376157878 0.00004
NM_001164508.2(NEB):c.20945A>T (p.Lys6982Ile) rs776012642 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.22349C>T (p.Thr7450Ile) rs575499014 0.00004
NM_001164508.2(NEB):c.2250G>A (p.Thr750=) rs753965951 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.23928G>A (p.Ser7976=) rs558657964 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25009G>A (p.Val8337Ile) rs377336846 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25130G>A (p.Arg8377Gln) rs369174368 0.00004
NM_001164508.2(NEB):c.25239A>G (p.Glu8413=) rs576696191 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.2921G>A (p.Arg974Gln) rs368642083 0.00004
NM_001164508.2(NEB):c.3425A>T (p.Asp1142Val) rs370976402 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979 0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217 0.00004
NM_001164508.2(NEB):c.4127A>G (p.Asn1376Ser) rs1309733626 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.4315G>A (p.Glu1439Lys) rs771779312 0.00004
NM_001164508.2(NEB):c.4414T>C (p.Tyr1472His) rs748121656 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.491C>T (p.Ser164Leu) rs747225286 0.00004
NM_001164508.2(NEB):c.5095C>G (p.Leu1699Val) rs1000847538 0.00004
NM_001164508.2(NEB):c.5174T>C (p.Phe1725Ser) rs368270996 0.00004
NM_001164508.2(NEB):c.5429C>T (p.Ala1810Val) rs752744680 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6011T>C (p.Val2004Ala) rs764064217 0.00004
NM_001164508.2(NEB):c.6075+3A>C rs986325764 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.6916-20T>C rs780933765 0.00004
NM_001164508.2(NEB):c.7387A>T (p.Met2463Leu) rs777231395 0.00004
NM_001164508.2(NEB):c.7677C>T (p.Leu2559=) rs371565168 0.00004
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=) rs559846137 0.00004
NM_001164508.2(NEB):c.7864G>A (p.Val2622Met) rs905660353 0.00004
NM_001164508.2(NEB):c.7906G>A (p.Asp2636Asn) rs760643814 0.00004
NM_001164508.2(NEB):c.8104C>T (p.Leu2702Phe) rs372248515 0.00004
NM_001164508.2(NEB):c.8265+3A>T rs374475460 0.00004
NM_001164508.2(NEB):c.8363T>C (p.Ile2788Thr) rs990382620 0.00004
NM_001164508.2(NEB):c.8582T>C (p.Leu2861Ser) rs529735446 0.00004
NM_001164508.2(NEB):c.8635G>A (p.Asp2879Asn) rs767512294 0.00004
NM_001164508.2(NEB):c.8683G>A (p.Asp2895Asn) rs779416595 0.00004
NM_001164508.2(NEB):c.8834T>C (p.Val2945Ala) rs748120166 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001164508.2(NEB):c.9112A>G (p.Lys3038Glu) rs780293943 0.00004
NM_001256545.2(MEGF10):c.*1496T>C rs886059868 0.00004
NM_001256545.2(MEGF10):c.*1584G>A rs187137999 0.00004
NM_001256545.2(MEGF10):c.*2001A>G rs959051009 0.00004
NM_001256545.2(MEGF10):c.*2222A>G rs531911246 0.00004
NM_001256545.2(MEGF10):c.*3153C>T rs996897163 0.00004
NM_001256545.2(MEGF10):c.*3537T>C rs756636870 0.00004
NM_001256545.2(MEGF10):c.*3562C>T rs886059877 0.00004
NM_001256545.2(MEGF10):c.*3715A>G rs755314732 0.00004
NM_001256545.2(MEGF10):c.*447A>G rs183710966 0.00004
NM_001256545.2(MEGF10):c.-219G>T rs746325634 0.00004
NM_001256545.2(MEGF10):c.1044G>T (p.Glu348Asp) rs370219469 0.00004
NM_001256545.2(MEGF10):c.1302C>G (p.Phe434Leu) rs1408693633 0.00004
NM_001256545.2(MEGF10):c.1621C>T (p.Arg541Cys) rs866094740 0.00004
NM_001256545.2(MEGF10):c.1654C>T (p.Pro552Ser) rs978960737 0.00004
NM_001256545.2(MEGF10):c.1800C>T (p.Cys600=) rs528654275 0.00004
NM_001256545.2(MEGF10):c.2477C>T (p.Ala826Val) rs150095036 0.00004
NM_001256545.2(MEGF10):c.2590A>G (p.Ile864Val) rs780877446 0.00004
NM_001256545.2(MEGF10):c.2873T>G (p.Leu958Arg) rs768809701 0.00004
NM_001256545.2(MEGF10):c.2942C>T (p.Pro981Leu) rs1064793648 0.00004
NM_001256545.2(MEGF10):c.2968C>T (p.Leu990Phe) rs750829562 0.00004
NM_001256545.2(MEGF10):c.304G>A (p.Gly102Arg) rs200703478 0.00004
NM_001256545.2(MEGF10):c.530G>A (p.Arg177His) rs373950666 0.00004
NM_001256545.2(MEGF10):c.632G>A (p.Arg211His) rs377520032 0.00004
NM_001256545.2(MEGF10):c.863C>T (p.Thr288Met) rs781179892 0.00004
NM_001256545.2(MEGF10):c.974A>G (p.Gln325Arg) rs764333715 0.00004
NM_001267550.2(TTN):c.*197C>G rs886055216 0.00004
NM_001267550.2(TTN):c.*898A>C rs998874416 0.00004
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.100826G>A (p.Arg33609Gln) rs771243505 0.00004
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) rs199594729 0.00004
NM_001267550.2(TTN):c.10127C>T (p.Ser3376Leu) rs781368765 0.00004
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343 0.00004
NM_001267550.2(TTN):c.101707C>T (p.Arg33903Cys) rs772574722 0.00004
NM_001267550.2(TTN):c.101822G>C (p.Arg33941Thr) rs762498249 0.00004
NM_001267550.2(TTN):c.101953G>C (p.Glu33985Gln) rs534613934 0.00004
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln) rs763708375 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) rs199932621 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) rs755986938 0.00004
NM_001267550.2(TTN):c.104333C>T (p.Thr34778Met) rs762158917 0.00004
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp) rs879243057 0.00004
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser) rs755502219 0.00004
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu) rs886042785 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898 0.00004
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00004
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991 0.00004
NM_001267550.2(TTN):c.106385A>G (p.Gln35462Arg) rs376392819 0.00004
NM_001267550.2(TTN):c.106531+6T>C rs772189154 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.10690G>C (p.Asp3564His) rs371708823 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001267550.2(TTN):c.106975G>A (p.Asp35659Asn) rs878992336 0.00004
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00004
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys) rs370649675 0.00004
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val) rs751755895 0.00004
NM_001267550.2(TTN):c.11843G>A (p.Arg3948His) rs775618077 0.00004
NM_001267550.2(TTN):c.12845T>A (p.Ile4282Asn) rs747907234 0.00004
NM_001267550.2(TTN):c.1330A>G (p.Ser444Gly) rs767156649 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.13829C>G (p.Thr4610Arg) rs748210214 0.00004
NM_001267550.2(TTN):c.1398+9G>A rs368350210 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) rs553541436 0.00004
NM_001267550.2(TTN):c.14428A>C (p.Lys4810Gln) rs367630668 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15500C>T (p.Pro5167Leu) rs730880237 0.00004
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile) rs759384825 0.00004
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090 0.00004
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val) rs879242937 0.00004
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser) rs752924679 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.16118C>A (p.Thr5373Asn) rs1057103177 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr) rs727504442 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.1640A>G (p.Gln547Arg) rs774937703 0.00004
NM_001267550.2(TTN):c.16517C>T (p.Ser5506Phe) rs201125295 0.00004
NM_001267550.2(TTN):c.16961T>G (p.Val5654Gly) rs763581306 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His) rs548015673 0.00004
NM_001267550.2(TTN):c.18173G>A (p.Arg6058His) rs376012117 0.00004
NM_001267550.2(TTN):c.18485C>T (p.Thr6162Ile) rs367685188 0.00004
NM_001267550.2(TTN):c.185G>A (p.Arg62His) rs758169489 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615 0.00004
NM_001267550.2(TTN):c.19377G>A (p.Val6459=) rs371652207 0.00004
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=) rs775289296 0.00004
NM_001267550.2(TTN):c.19964A>G (p.Asp6655Gly) rs772947420 0.00004
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln) rs202022304 0.00004
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile) rs140143513 0.00004
NM_001267550.2(TTN):c.2032A>G (p.Thr678Ala) rs878854290 0.00004
NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr) rs879197315 0.00004
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser) rs200954184 0.00004
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys) rs778532757 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.22952A>G (p.Glu7651Gly) rs1461872954 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00004
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn) rs755202091 0.00004
NM_001267550.2(TTN):c.24344G>A (p.Ser8115Asn) rs397517506 0.00004
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val) rs371322658 0.00004
NM_001267550.2(TTN):c.27988A>G (p.Ile9330Val) rs768696299 0.00004
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp) rs190600127 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.28104A>G (p.Ala9368=) rs886055291 0.00004
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972 0.00004
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile) rs769996978 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His) rs760305440 0.00004
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00004
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala) rs778063825 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr) rs769226745 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.31762+4C>T rs368538884 0.00004
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn) rs746722623 0.00004
NM_001267550.2(TTN):c.32194G>A (p.Glu10732Lys) rs374348069 0.00004
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg) rs767155246 0.00004
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu) rs781655223 0.00004
NM_001267550.2(TTN):c.3319G>A (p.Gly1107Ser) rs767741769 0.00004
NM_001267550.2(TTN):c.33419-9T>C rs1030703466 0.00004
NM_001267550.2(TTN):c.33826+4C>T rs750851792 0.00004
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile) rs369025108 0.00004
NM_001267550.2(TTN):c.34735C>T (p.Pro11579Ser) rs754511830 0.00004
NM_001267550.2(TTN):c.34772C>T (p.Ala11591Val) rs72650052 0.00004
NM_001267550.2(TTN):c.34786+3A>G rs1417271874 0.00004
NM_001267550.2(TTN):c.34952A>C (p.Lys11651Thr) rs373656002 0.00004
NM_001267550.2(TTN):c.35194G>A (p.Glu11732Lys) rs939014361 0.00004
NM_001267550.2(TTN):c.35312C>T (p.Pro11771Leu) rs373508919 0.00004
NM_001267550.2(TTN):c.36158C>T (p.Thr12053Met) rs761169549 0.00004
NM_001267550.2(TTN):c.36170C>A (p.Pro12057His) rs374834199 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.36802C>G (p.Pro12268Ala) rs1461810893 0.00004
NM_001267550.2(TTN):c.37496A>C (p.Lys12499Thr) rs1367017667 0.00004
NM_001267550.2(TTN):c.38321T>C (p.Val12774Ala) rs747414237 0.00004
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser) rs757781411 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.39276G>A (p.Pro13092=) rs369002632 0.00004
NM_001267550.2(TTN):c.39385G>A (p.Val13129Ile) rs774557269 0.00004
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg) rs760464072 0.00004
NM_001267550.2(TTN):c.40109T>C (p.Ile13370Thr) rs904655100 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.40636C>A (p.Pro13546Thr) rs1393076582 0.00004
NM_001267550.2(TTN):c.4087A>G (p.Thr1363Ala) rs768249663 0.00004
NM_001267550.2(TTN):c.41309C>T (p.Thr13770Met) rs774214497 0.00004
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln) rs727504774 0.00004
NM_001267550.2(TTN):c.41744C>T (p.Ala13915Val) rs371426048 0.00004
NM_001267550.2(TTN):c.41908C>T (p.Pro13970Ser) rs189799340 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001267550.2(TTN):c.43019T>C (p.Ile14340Thr) rs397517571 0.00004
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser) rs781452930 0.00004
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr) rs751017081 0.00004
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His) rs375574483 0.00004
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=) rs755769210 0.00004
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 0.00004
NM_001267550.2(TTN):c.45652C>T (p.Arg15218Trp) rs371621174 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46386C>T (p.Cys15462=) rs147703145 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.47698G>A (p.Glu15900Lys) rs772625773 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.49698A>G (p.Thr16566=) rs778112130 0.00004
NM_001267550.2(TTN):c.50954C>T (p.Thr16985Ile) rs116765281 0.00004
NM_001267550.2(TTN):c.51175A>G (p.Ile17059Val) rs188395969 0.00004
NM_001267550.2(TTN):c.5132C>T (p.Ser1711Phe) rs397517641 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met) rs554368924 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.52908G>C (p.Glu17636Asp) rs748175453 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.53069T>C (p.Leu17690Pro) rs370469461 0.00004
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val) rs773447539 0.00004
NM_001267550.2(TTN):c.53561T>A (p.Ile17854Asn) rs375796420 0.00004
NM_001267550.2(TTN):c.53791C>G (p.Gln17931Glu) rs759208053 0.00004
NM_001267550.2(TTN):c.54091A>G (p.Ser18031Gly) rs397517615 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.54348A>T (p.Glu18116Asp) rs773746281 0.00004
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly) rs201001270 0.00004
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu) rs370583314 0.00004
NM_001267550.2(TTN):c.54819G>A (p.Pro18273=) rs373624715 0.00004
NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu) rs794727388 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56534C>T (p.Thr18845Met) rs371571153 0.00004
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) rs368419410 0.00004
NM_001267550.2(TTN):c.56640C>A (p.Asn18880Lys) rs200544272 0.00004
NM_001267550.2(TTN):c.56761C>T (p.Leu18921=) rs769824680 0.00004
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val) rs754264431 0.00004
NM_001267550.2(TTN):c.56872G>A (p.Asp18958Asn) rs576158850 0.00004
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp) rs556286196 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg) rs201430346 0.00004
NM_001267550.2(TTN):c.58982G>A (p.Gly19661Asp) rs397517640 0.00004
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr) rs746014701 0.00004
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His) rs753167856 0.00004
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala) rs550655820 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.61826G>A (p.Arg20609His) rs372546292 0.00004
NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn) rs1177521349 0.00004
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro) rs1001628726 0.00004
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys) rs878916429 0.00004
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) rs777095470 0.00004
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala) rs878968094 0.00004
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser) rs375401971 0.00004
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr) rs772411127 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.64411C>T (p.Leu21471Phe) rs774609456 0.00004
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser) rs200355808 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.656C>T (p.Thr219Ile) rs926062512 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.65986C>T (p.Arg21996Cys) rs577114038 0.00004
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) rs768057735 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.66778G>C (p.Glu22260Gln) rs553988103 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met) rs369257896 0.00004
NM_001267550.2(TTN):c.67643C>T (p.Pro22548Leu) rs763002536 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=) rs755897447 0.00004
NM_001267550.2(TTN):c.68303A>G (p.Lys22768Arg) rs761210578 0.00004
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=) rs368985748 0.00004
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His) rs368484355 0.00004
NM_001267550.2(TTN):c.68791A>C (p.Ser22931Arg) rs794729484 0.00004
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00004
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys) rs776478343 0.00004
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile) rs549709481 0.00004
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His) rs370257707 0.00004
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala) rs369526268 0.00004
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys) rs397517687 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His) rs537705563 0.00004
NM_001267550.2(TTN):c.72488G>A (p.Arg24163His) rs374712231 0.00004
NM_001267550.2(TTN):c.73148C>T (p.Ser24383Leu) rs368415251 0.00004
NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile) rs768476881 0.00004
NM_001267550.2(TTN):c.73292A>T (p.Asp24431Val) rs754343858 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.73822G>A (p.Ala24608Thr) rs750166986 0.00004
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His) rs761823581 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn) rs1001852514 0.00004
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly) rs879087699 0.00004
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala) rs397517712 0.00004
NM_001267550.2(TTN):c.7816G>A (p.Ala2606Thr) rs375286376 0.00004
NM_001267550.2(TTN):c.78756T>C (p.Ile26252=) rs372319281 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.78929C>T (p.Pro26310Leu) rs754702040 0.00004
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488 0.00004
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp) rs369019463 0.00004
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211 0.00004
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) rs781076407 0.00004
NM_001267550.2(TTN):c.80446G>A (p.Val26816Ile) rs774092000 0.00004
NM_001267550.2(TTN):c.8051A>G (p.Asp2684Gly) rs1008197005 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp) rs779878975 0.00004
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln) rs768308408 0.00004
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg) rs878898668 0.00004
NM_001267550.2(TTN):c.81545T>A (p.Ile27182Asn) rs373448447 0.00004
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463 0.00004
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys) rs767221784 0.00004
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln) rs1246168127 0.00004
NM_001267550.2(TTN):c.82606G>A (p.Glu27536Lys) rs745974517 0.00004
NM_001267550.2(TTN):c.83032G>A (p.Asp27678Asn) rs781128731 0.00004
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) rs545954394 0.00004
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) rs570847832 0.00004
NM_001267550.2(TTN):c.84383G>A (p.Arg28128His) rs367596354 0.00004
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe) rs752974639 0.00004
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu) rs375549179 0.00004
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met) rs768545532 0.00004
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile) rs368615862 0.00004
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=) rs879222360 0.00004
NM_001267550.2(TTN):c.86420G>A (p.Arg28807His) rs375800916 0.00004
NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile) rs794727453 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.88666C>T (p.Arg29556Trp) rs201657835 0.00004
NM_001267550.2(TTN):c.89136C>T (p.Asn29712=) rs376289479 0.00004
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr) rs201592005 0.00004
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala) rs755018367 0.00004
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104 0.00004
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828 0.00004
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys) rs372303620 0.00004
NM_001267550.2(TTN):c.9116C>T (p.Thr3039Ile) rs774523194 0.00004
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln) rs770081431 0.00004
NM_001267550.2(TTN):c.91342C>T (p.Arg30448Cys) rs756030714 0.00004
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His) rs547301978 0.00004
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val) rs202090888 0.00004
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp) rs754125601 0.00004
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro) rs762590394 0.00004
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr) rs368427408 0.00004
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) rs534881266 0.00004
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00004
NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro) rs773083742 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.9485A>G (p.Gln3162Arg) rs727503681 0.00004
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile) rs758006837 0.00004
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn) rs267599025 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00004
NM_001267550.2(TTN):c.96310+4A>T rs781222763 0.00004
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala) rs1014216424 0.00004
NM_001267550.2(TTN):c.97396G>A (p.Glu32466Lys) rs55915651 0.00004
NM_001267550.2(TTN):c.9749T>G (p.Val3250Gly) rs55634230 0.00004
NM_001267550.2(TTN):c.97717C>T (p.Arg32573Cys) rs569593251 0.00004
NM_001267550.2(TTN):c.98161G>A (p.Val32721Ile) rs533651182 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00004
NM_001267550.2(TTN):c.99335C>A (p.Thr33112Lys) rs374883160 0.00004
NM_001267550.2(TTN):c.99344G>A (p.Gly33115Asp) rs879247634 0.00004
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr) rs879116103 0.00004
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) rs1256600488 0.00004
NM_001368067.1(LDB3):c.333C>G (p.Asn111Lys) rs369470035 0.00004
NM_001368067.1(LDB3):c.770C>T (p.Thr257Met) rs375798002 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001377299.1(NDUFS2):c.95+14C>T rs751472475 0.00004
NM_001378030.1(CCDC78):c.1057G>A (p.Gly353Ser) rs754906673 0.00004
NM_001378030.1(CCDC78):c.1177C>T (p.Arg393Trp) rs767496331 0.00004
NM_001378030.1(CCDC78):c.1233G>A (p.Leu411=) rs893572894 0.00004
NM_001378030.1(CCDC78):c.1281C>T (p.Tyr427=) rs142180051 0.00004
NM_001378030.1(CCDC78):c.368G>A (p.Arg123Gln) rs201924732 0.00004
NM_001378030.1(CCDC78):c.557G>A (p.Arg186His) rs762337009 0.00004
NM_001378030.1(CCDC78):c.751G>A (p.Ala251Thr) rs371030168 0.00004
NM_001378030.1(CCDC78):c.845G>A (p.Arg282Gln) rs201634385 0.00004
NM_001378030.1(CCDC78):c.862C>T (p.Arg288Cys) rs764179609 0.00004
NM_001382567.1(STIM1):c.1410C>G (p.His470Gln) rs748403696 0.00004
NM_001382567.1(STIM1):c.1597C>T (p.Arg533Cys) rs149456514 0.00004
NM_001382567.1(STIM1):c.1634+60G>A rs748049243 0.00004
NM_001382567.1(STIM1):c.1766G>A (p.Arg589Gln) rs199503470 0.00004
NM_001382567.1(STIM1):c.1866C>G (p.Asp622Glu) rs776241052 0.00004
NM_001382567.1(STIM1):c.392A>G (p.Asn131Ser) rs201274425 0.00004
NM_001458.5(FLNC):c.1082G>A (p.Arg361His) rs752888774 0.00004
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) rs371913931 0.00004
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp) rs759075520 0.00004
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser) rs770861991 0.00004
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser) rs762248114 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.2519G>A (p.Arg840His) rs376472014 0.00004
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys) rs774707336 0.00004
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) rs768103657 0.00004
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp) rs555764780 0.00004
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His) rs370520806 0.00004
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met) rs368220468 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys) rs1012086057 0.00004
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu) rs754224673 0.00004
NM_001458.5(FLNC):c.4951+3G>A rs377554196 0.00004
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp) rs1279073825 0.00004
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His) rs780685346 0.00004
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His) rs375046429 0.00004
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys) rs761922251 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) rs527921534 0.00004
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu) rs746349463 0.00004
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn) rs2639142 0.00004
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu) rs1318316375 0.00004
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys) rs781212262 0.00004
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) rs769750595 0.00004
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp) rs144047921 0.00004
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) rs148624625 0.00004
NM_001848.3(COL6A1):c.1236+5G>A rs376327142 0.00004
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln) rs761729281 0.00004
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu) rs746962124 0.00004
NM_001848.3(COL6A1):c.1461+4A>G rs201372759 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn) rs1372696070 0.00004
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg) rs763495943 0.00004
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=) rs772673965 0.00004
NM_001848.3(COL6A1):c.903+4C>T rs200380846 0.00004
NM_001848.3(COL6A1):c.96G>A (p.Gln32=) rs754988212 0.00004
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg) rs768681228 0.00004
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser) rs765430501 0.00004
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn) rs202039679 0.00004
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp) rs727502829 0.00004
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys) rs776748046 0.00004
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln) rs768933697 0.00004
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn) rs368641951 0.00004
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His) rs145140058 0.00004
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg) rs199913294 0.00004
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His) rs554257211 0.00004
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His) rs527236952 0.00004
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile) rs376564984 0.00004
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp) rs201470058 0.00004
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val) rs747347320 0.00004
NM_001849.4(COL6A2):c.950G>A (p.Arg317His) rs373782637 0.00004
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser) rs745678446 0.00004
NM_001927.4(DES):c.*112C>G rs540351476 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.268G>C (p.Asp90His) rs1267102255 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_002469.3(MYF6):c.220C>T (p.Pro74Ser) rs996997577 0.00004
NM_002488.5(NDUFA2):c.191A>G (p.Lys64Arg) rs79526416 0.00004
NM_002495.4(NDUFS4):c.-22C>A rs144843461 0.00004
NM_002693.3(POLG):c.2069C>T (p.Thr690Met) rs201677865 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.2509T>C (p.Tyr837His) rs544828395 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_003283.6(TNNT1):c.562G>A (p.Glu188Lys) rs201519507 0.00004
NM_003283.6(TNNT1):c.566G>A (p.Arg189His) rs770079408 0.00004
NM_003283.6(TNNT1):c.73+6G>A rs1056384260 0.00004
NM_003283.6(TNNT1):c.802G>A (p.Ala268Thr) rs200340030 0.00004
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val) rs765180271 0.00004
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg) rs141493530 0.00004
NM_004168.4(SDHA):c.1526C>G (p.Ser509Trp) rs397514541 0.00004
NM_004168.4(SDHA):c.1585G>C (p.Gly529Arg) rs370291114 0.00004
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn) rs757176672 0.00004
NM_004168.4(SDHA):c.1724C>T (p.Ala575Val) rs750327309 0.00004
NM_004168.4(SDHA):c.1771G>A (p.Ala591Thr) rs1042170 0.00004
NM_004168.4(SDHA):c.1930G>A (p.Val644Met) rs3211483 0.00004
NM_004168.4(SDHA):c.1951G>A (p.Glu651Lys) rs375396913 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004168.4(SDHA):c.641G>A (p.Ser214Asn) rs755432673 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys) rs147014102 0.00004
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr) rs756178548 0.00004
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu) rs1374652846 0.00004
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val) rs770920565 0.00004
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe) rs780615753 0.00004
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp) rs767341152 0.00004
NM_004281.4(BAG3):c.34G>A (p.Val12Met) rs367917821 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu) rs149517238 0.00004
NM_004281.4(BAG3):c.743A>G (p.His248Arg) rs369947845 0.00004
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln) rs774137001 0.00004
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn) rs754387872 0.00004
NM_004369.4(COL6A3):c.2303G>A (p.Arg768His) rs575412915 0.00004
NM_004369.4(COL6A3):c.3070+6G>A rs761124398 0.00004
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu) rs768064422 0.00004
NM_004369.4(COL6A3):c.3679+5G>T rs138878144 0.00004
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp) rs577927810 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg) rs150321587 0.00004
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn) rs762035107 0.00004
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser) rs771489087 0.00004
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln) rs145561490 0.00004
NM_004369.4(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His) rs755195861 0.00004
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser) rs776633189 0.00004
NM_004370.6(COL12A1):c.2164+6A>T rs746467248 0.00004
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val) rs368773405 0.00004
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val) rs944222774 0.00004
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile) rs374525546 0.00004
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile) rs772992461 0.00004
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser) rs759692428 0.00004
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His) rs748487098 0.00004
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp) rs201973949 0.00004
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala) rs760315104 0.00004
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=) rs754929219 0.00004
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=) rs751540913 0.00004
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser) rs771186535 0.00004
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser) rs370244195 0.00004
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser) rs747966606 0.00004
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met) rs371124522 0.00004
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser) rs772870762 0.00004
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr) rs773855825 0.00004
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val) rs1199162597 0.00004
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln) rs756809634 0.00004
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu) rs376161354 0.00004
NM_004544.4(NDUFA10):c.*1594G>A rs773071160 0.00004
NM_004544.4(NDUFA10):c.*2455C>G rs756778773 0.00004
NM_004544.4(NDUFA10):c.*3557G>A rs149933652 0.00004
NM_004544.4(NDUFA10):c.*428C>T rs557106858 0.00004
NM_004544.4(NDUFA10):c.529G>A (p.Gly177Arg) rs759587515 0.00004
NM_004544.4(NDUFA10):c.549T>C (p.Cys183=) rs149783296 0.00004
NM_005006.7(NDUFS1):c.1120A>G (p.Thr374Ala) rs765436915 0.00004
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) rs375345044 0.00004
NM_005876.5(SPEG):c.5743A>C (p.Ser1915Arg) rs199549168 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_005876.5(SPEG):c.7876T>C (p.Ser2626Pro) rs200008141 0.00004
NM_005876.5(SPEG):c.9016C>T (p.Arg3006Trp) rs781096883 0.00004
NM_005876.5(SPEG):c.9078C>T (p.His3026=) rs541299207 0.00004
NM_006063.3(KLHL41):c.1482A>T (p.Lys494Asn) rs778531652 0.00004
NM_006063.3(KLHL41):c.208A>G (p.Lys70Glu) rs766504219 0.00004
NM_006063.3(KLHL41):c.833T>C (p.Val278Ala) rs751923233 0.00004
NM_006790.3(MYOT):c.*418T>C rs778508971 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.593T>C (p.Val198Ala) rs776439973 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln) rs745792335 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser) rs372583830 0.00004
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys) rs760563152 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.407C>T (p.Pro136Leu) rs772887402 0.00004
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr) rs780578350 0.00004
NM_007078.3(LDB3):c.530C>T (p.Ala177Val) rs397517224 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007078.3(LDB3):c.897-6692C>T rs1286351667 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met) rs774750411 0.00004
NM_007103.4(NDUFV1):c.119G>A (p.Arg40Gln) rs141502688 0.00004
NM_007103.4(NDUFV1):c.1309-9C>T rs374581520 0.00004
NM_014165.4(NDUFAF4):c.*1213C>T rs1456765249 0.00004
NM_014165.4(NDUFAF4):c.270G>A (p.Pro90=) rs372832376 0.00004
NM_015602.4(TOR1AIP1):c.1355A>G (p.Gln452Arg) rs374418323 0.00004
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr) rs138345857 0.00004
NM_015602.4(TOR1AIP1):c.272G>A (p.Arg91Gln) rs769686590 0.00004
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe) rs759689850 0.00004
NM_015602.4(TOR1AIP1):c.619A>G (p.Ser207Gly) rs759786680 0.00004
NM_015602.4(TOR1AIP1):c.944C>T (p.Ser315Leu) rs201979642 0.00004
NM_015602.4(TOR1AIP1):c.983A>G (p.Gln328Arg) rs748527858 0.00004
NM_015713.5(RRM2B):c.613A>G (p.Ile205Val) rs144088421 0.00004
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606 0.00004
NM_017534.6(MYH2):c.1228G>A (p.Gly410Ser) rs146229690 0.00004
NM_017534.6(MYH2):c.193G>C (p.Glu65Gln) rs767472238 0.00004
NM_017534.6(MYH2):c.2068A>G (p.Met690Val) rs375334939 0.00004
NM_017534.6(MYH2):c.2090A>G (p.His697Arg) rs753195074 0.00004
NM_017534.6(MYH2):c.343A>G (p.Ile115Val) rs781687668 0.00004
NM_017534.6(MYH2):c.3805G>C (p.Glu1269Gln) rs201489001 0.00004
NM_017534.6(MYH2):c.4094G>A (p.Arg1365Lys) rs745629813 0.00004
NM_017534.6(MYH2):c.4556C>T (p.Thr1519Met) rs138796340 0.00004
NM_017534.6(MYH2):c.5025A>C (p.Glu1675Asp) rs374743981 0.00004
NM_017534.6(MYH2):c.5045G>A (p.Arg1682His) rs145099248 0.00004
NM_017534.6(MYH2):c.5105A>G (p.Glu1702Gly) rs769912069 0.00004
NM_017534.6(MYH2):c.5303C>G (p.Ala1768Gly) rs151021565 0.00004
NM_017534.6(MYH2):c.5305G>A (p.Ala1769Thr) rs550869991 0.00004
NM_017534.6(MYH2):c.5539C>T (p.Arg1847Cys) rs774045866 0.00004
NM_017534.6(MYH2):c.5791C>T (p.Arg1931Trp) rs544066673 0.00004
NM_017547.4(FOXRED1):c.*71A>G rs763886127 0.00004
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) rs139029287 0.00004
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112 0.00004
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) rs368843227 0.00004
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046 0.00004
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala) rs757761857 0.00004
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val) rs181963507 0.00004
NM_020451.3(SELENON):c.10G>C (p.Ala4Pro) rs1371866855 0.00004
NM_020451.3(SELENON):c.1129G>A (p.Val377Met) rs369709974 0.00004
NM_020451.3(SELENON):c.1363G>T (p.Ala455Ser) rs374687219 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020451.3(SELENON):c.183+14C>G rs794726949 0.00004
NM_020451.3(SELENON):c.392T>G (p.Leu131Arg) rs774592112 0.00004
NM_020451.3(SELENON):c.417G>A (p.Ala139=) rs535581420 0.00004
NM_021738.3(SVIL):c.1783G>A (p.Ala595Thr) rs763112940 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00004
NM_021830.5(TWNK):c.602C>T (p.Ala201Val) rs774181599 0.00004
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val) rs565395435 0.00004
NM_024407.5(NDUFS7):c.455+13C>T rs376025020 0.00004
NM_025152.3(NUBPL):c.-25A>G rs749942385 0.00004
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789 0.00004
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.426C>T (p.Cys142=) rs554459931 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu) rs780297988 0.00004
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys) rs367570424 0.00004
NM_032578.4(MYPN):c.194C>T (p.Ala65Val) rs147553723 0.00004
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln) rs768452699 0.00004
NM_032608.7(MYO18B):c.2960C>T (p.Thr987Met) rs371198573 0.00004
NM_032608.7(MYO18B):c.2982A>G (p.Glu994=) rs199523038 0.00004
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) rs775800465 0.00004
NM_032608.7(MYO18B):c.4146G>C (p.Trp1382Cys) rs753489293 0.00004
NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr) rs769150604 0.00004
NM_032608.7(MYO18B):c.5259+3A>G rs780108646 0.00004
NM_032790.4(ORAI1):c.1A>T (p.Met1Leu) rs797044624 0.00004
NM_032790.4(ORAI1):c.215A>G (p.Gln72Arg) rs1411464557 0.00004
NM_032790.4(ORAI1):c.395C>G (p.Ala132Gly) rs782478364 0.00004
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys) rs201047740 0.00004
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys) rs142273664 0.00004
NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr) rs374639358 0.00004
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly) rs190193836 0.00004
NM_133379.5(TTN):c.14111T>A (p.Val4704Asp) rs777880511 0.00004
NM_133379.5(TTN):c.15230C>T (p.Pro5077Leu) rs757243046 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_138638.5(CFL2):c.*1620T>C rs943154114 0.00004
NM_138638.5(CFL2):c.93G>C (p.Lys31Asn) rs757341071 0.00004
NM_139343.3(BIN1):c.1371+1G>T rs556129959 0.00004
NM_139343.3(BIN1):c.1394C>T (p.Ala465Val) rs751051376 0.00004
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) rs772786604 0.00004
NM_139343.3(BIN1):c.1674+3G>T rs1420732725 0.00004
NM_139343.3(BIN1):c.839C>T (p.Thr280Met) rs201872255 0.00004
NM_139343.3(BIN1):c.866C>T (p.Ala289Val) rs771112840 0.00004
NM_139343.3(BIN1):c.968C>T (p.Thr323Met) rs763810794 0.00004
NM_145064.3(STAC3):c.1022C>T (p.Ala341Val) rs753014378 0.00004
NM_145064.3(STAC3):c.73C>T (p.Arg25Trp) rs747642245 0.00004
NM_152263.4(TPM3):c.*2220T>C rs886045306 0.00004
NM_152263.4(TPM3):c.*2544C>T rs968828245 0.00004
NM_152263.4(TPM3):c.*2652C>T rs555966358 0.00004
NM_152263.4(TPM3):c.*4203G>A rs886045299 0.00004
NM_152263.4(TPM3):c.*4389G>T rs886045297 0.00004
NM_152263.4(TPM3):c.*489T>G rs886045312 0.00004
NM_152263.4(TPM3):c.*4930G>A rs995544936 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_152393.4(KLHL40):c.1210C>G (p.Leu404Val) rs760491341 0.00004
NM_152393.4(KLHL40):c.1504C>T (p.Leu502Phe) rs766195312 0.00004
NM_152393.4(KLHL40):c.1558G>A (p.Asp520Asn) rs755836871 0.00004
NM_152393.4(KLHL40):c.1832T>C (p.Val611Ala) rs749220097 0.00004
NM_152393.4(KLHL40):c.1835G>A (p.Arg612Gln) rs143516959 0.00004
NM_152393.4(KLHL40):c.511G>A (p.Gly171Arg) rs199513801 0.00004
NM_152393.4(KLHL40):c.590C>A (p.Ala197Glu) rs757677971 0.00004
NM_152393.4(KLHL40):c.670G>T (p.Val224Leu) rs757444389 0.00004
NM_174889.5(NDUFAF2):c.423A>G (p.Glu141=) rs550008432 0.00004
NM_175614.4(NDUFA11):c.-143C>G rs550697802 0.00004
NM_175614.4(NDUFA11):c.-300G>A rs563822139 0.00004
NM_175614.5(NDUFA11):c.-31G>A rs886054648 0.00004
NM_198271.5(LMOD3):c.331C>T (p.Arg111Cys) rs373887230 0.00004
NM_198271.5(LMOD3):c.332G>A (p.Arg111His) rs370401036 0.00004
NM_198271.5(LMOD3):c.466G>C (p.Asp156His) rs371587555 0.00004
NM_198271.5(LMOD3):c.920G>A (p.Arg307His) rs756497709 0.00004
NM_198859.4(PRICKLE2):c.1040C>T (p.Thr347Met) rs375755312 0.00004
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp) rs749378051 0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn) rs1449765785 0.00004
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr) rs765569869 0.00004
NM_198859.4(PRICKLE2):c.271A>C (p.Asn91His) rs1256565263 0.00004
NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys) rs750086425 0.00004
NM_198859.4(PRICKLE2):c.950A>G (p.Asn317Ser) rs201556180 0.00004
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr) rs760554761 0.00004
NM_199069.2(NDUFAF3):c.*243G>A rs941353519 0.00004
NM_199069.2(NDUFAF3):c.180_181insT (p.Asp61Ter) rs752864722 0.00004
NM_199069.2(NDUFAF3):c.226C>T (p.Leu76Phe) rs373060774 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NM_213720.3(CHCHD10):c.382G>T (p.Ala128Ser) rs371437007 0.00004
NM_213720.3(CHCHD10):c.42-2A>G rs1354578196 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NC_000012.12:g.121626861C>T rs1555322519 0.00003
NC_000012.12:g.121641293C>T rs782383265 0.00003
NC_000012.12:g.121641567C>T rs543436848 0.00003
NC_000012.12:g.121641611C>A rs1189464768 0.00003
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His) rs372451247 0.00003
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr) rs758334449 0.00003
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys) rs187527797 0.00003
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) rs370481249 0.00003
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys) rs12566550 0.00003
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro) rs1183959177 0.00003
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln) rs368656142 0.00003
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val) rs369685849 0.00003
NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) rs776209588 0.00003
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val) rs776996468 0.00003
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=) rs889659456 0.00003
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His) rs760674518 0.00003
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg) rs146903750 0.00003
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu) rs149658326 0.00003
NM_000069.3(CACNA1S):c.3983T>G (p.Ile1328Ser) rs142144624 0.00003
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met) rs780785403 0.00003
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu) rs970352258 0.00003
NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile) rs374294701 0.00003
NM_000069.3(CACNA1S):c.665T>A (p.Met222Lys) rs1287586310 0.00003
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp) rs577022740 0.00003
NM_000069.3(CACNA1S):c.865A>G (p.Ile289Val) rs139920212 0.00003
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln) rs782653725 0.00003
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000183.3(HADHB):c.1417C>A (p.Pro473Thr) rs942477332 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln) rs747308839 0.00003
NM_000257.4(MYH7):c.4872G>A (p.Glu1624=) rs766561921 0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) rs565663412 0.00003
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys) rs45511396 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000257.4(MYH7):c.639+5G>T rs765724983 0.00003
NM_000334.4(SCN4A):c.*394A>C rs886053244 0.00003
NM_000334.4(SCN4A):c.1606G>A (p.Glu536Lys) rs746256985 0.00003
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=) rs189925781 0.00003
NM_000334.4(SCN4A):c.2149G>A (p.Val717Met) rs770283788 0.00003
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665 0.00003
NM_000334.4(SCN4A):c.3371C>A (p.Pro1124His) rs924313348 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000334.4(SCN4A):c.3721-14C>G rs761700338 0.00003
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=) rs755256694 0.00003
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile) rs369929462 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser) rs774821803 0.00003
NM_000334.4(SCN4A):c.5239A>G (p.Met1747Val) rs748599327 0.00003
NM_000334.4(SCN4A):c.5275G>A (p.Asp1759Asn) rs1015807829 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) rs778661227 0.00003
NM_000334.4(SCN4A):c.568C>T (p.Arg190Trp) rs763866848 0.00003
NM_000334.4(SCN4A):c.64C>T (p.Arg22Trp) rs865873054 0.00003
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=) rs368360689 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His) rs924687841 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12407G>A (p.Arg4136His) rs572373150 0.00003
NM_000540.3(RYR1):c.12797G>A (p.Gly4266Asp) rs1445617605 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.12878C>T (p.Ala4293Val) rs1223090052 0.00003
NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln) rs1413644550 0.00003
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) rs752665367 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn) rs572103362 0.00003
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153 0.00003
NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp) rs765445445 0.00003
NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln) rs759902314 0.00003
NM_000540.3(RYR1):c.2480A>T (p.Glu827Val) rs758782788 0.00003
NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln) rs777191617 0.00003
NM_000540.3(RYR1):c.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00003
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln) rs373541911 0.00003
NM_000540.3(RYR1):c.3128G>A (p.Arg1043His) rs374776563 0.00003
NM_000540.3(RYR1):c.3175C>T (p.Pro1059Ser) rs558190898 0.00003
NM_000540.3(RYR1):c.370C>T (p.Arg124Cys) rs765121148 0.00003
NM_000540.3(RYR1):c.3815C>T (p.Thr1272Ile) rs750818753 0.00003
NM_000540.3(RYR1):c.4003C>T (p.Arg1335Cys) rs767382534 0.00003
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys) rs760625346 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 0.00003
NM_000540.3(RYR1):c.537+13G>A rs754569485 0.00003
NM_000540.3(RYR1):c.5891G>A (p.Arg1964His) rs767487116 0.00003
NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly) rs1302216965 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.6211C>T (p.Arg2071Trp) rs147441124 0.00003
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=) rs769443054 0.00003
NM_000540.3(RYR1):c.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00003
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe) rs193922797 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.722G>A (p.Arg241His) rs552007612 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000540.3(RYR1):c.7781C>T (p.Ser2594Leu) rs749564145 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.825G>T (p.Trp275Cys) rs138687891 0.00003
NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe) rs769276412 0.00003
NM_000540.3(RYR1):c.8416C>T (p.Arg2806Cys) rs772769577 0.00003
NM_000540.3(RYR1):c.8686G>A (p.Ala2896Thr) rs886054397 0.00003
NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys) rs766362010 0.00003
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His) rs756487708 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001025389.2(AMPD3):c.1267-13C>A rs376493129 0.00003
NM_001025389.2(AMPD3):c.485G>A (p.Arg162Gln) rs886047586 0.00003
NM_001042631.3(SDHAF1):c.*327C>A rs1252756289 0.00003
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
NM_001101362.3(KBTBD13):c.1346G>T (p.Gly449Val) rs1216666979 0.00003
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101362.3(KBTBD13):c.240G>T (p.Gln80His) rs1040368554 0.00003
NM_001101362.3(KBTBD13):c.358G>A (p.Asp120Asn) rs1403660333 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser) rs1384783399 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001151.4(SLC25A4):c.*1217A>C rs1048884006 0.00003
NM_001151.4(SLC25A4):c.*2618C>G rs1271807284 0.00003
NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn) rs183321773 0.00003
NM_001164508.2(NEB):c.10127A>G (p.Tyr3376Cys) rs754298562 0.00003
NM_001164508.2(NEB):c.10231G>A (p.Ala3411Thr) rs727504034 0.00003
NM_001164508.2(NEB):c.104C>T (p.Thr35Met) rs749153659 0.00003
NM_001164508.2(NEB):c.10847G>A (p.Arg3616Gln) rs774454536 0.00003
NM_001164508.2(NEB):c.10860C>A (p.Asp3620Glu) rs748243107 0.00003
NM_001164508.2(NEB):c.10872C>T (p.Asp3624=) rs781328083 0.00003
NM_001164508.2(NEB):c.10913G>T (p.Gly3638Val) rs370161504 0.00003
NM_001164508.2(NEB):c.10925T>C (p.Ile3642Thr) rs201614105 0.00003
NM_001164508.2(NEB):c.11234G>T (p.Arg3745Leu) rs765379397 0.00003
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=) rs200043736 0.00003
NM_001164508.2(NEB):c.11570A>G (p.Gln3857Arg) rs760525587 0.00003
NM_001164508.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717 0.00003
NM_001164508.2(NEB):c.11671G>A (p.Glu3891Lys) rs753450456 0.00003
NM_001164508.2(NEB):c.11683A>G (p.Arg3895Gly) rs1015014078 0.00003
NM_001164508.2(NEB):c.11806-7C>A rs779713133 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449 0.00003
NM_001164508.2(NEB):c.12010G>A (p.Ala4004Thr) rs750705899 0.00003
NM_001164508.2(NEB):c.12210C>G (p.Ala4070=) rs749556191 0.00003
NM_001164508.2(NEB):c.12248G>A (p.Arg4083His) rs376019368 0.00003
NM_001164508.2(NEB):c.125A>G (p.Tyr42Cys) rs756162358 0.00003
NM_001164508.2(NEB):c.12747+4C>T rs1436792470 0.00003
NM_001164508.2(NEB):c.1339A>G (p.Met447Val) rs774284999 0.00003
NM_001164508.2(NEB):c.1365+14C>A rs750849844 0.00003
NM_001164508.2(NEB):c.16823C>T (p.Thr5608Met) rs200952733 0.00003
NM_001164508.2(NEB):c.16954A>G (p.Ile5652Val) rs767425744 0.00003
NM_001164508.2(NEB):c.17101A>G (p.Arg5701Gly) rs1332674015 0.00003
NM_001164508.2(NEB):c.17129A>G (p.Lys5710Arg) rs200501968 0.00003
NM_001164508.2(NEB):c.17677A>G (p.Thr5893Ala) rs762095177 0.00003
NM_001164508.2(NEB):c.18074G>A (p.Arg6025His) rs751957350 0.00003
NM_001164508.2(NEB):c.18693+5G>A rs377482159 0.00003
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg) rs760552939 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.19082G>A (p.Ser6361Asn) rs768390701 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001164508.2(NEB):c.19625A>G (p.Asp6542Gly) rs753830499 0.00003
NM_001164508.2(NEB):c.19724G>A (p.Arg6575His) rs185999504 0.00003
NM_001164508.2(NEB):c.19801G>A (p.Val6601Met) rs553079055 0.00003
NM_001164508.2(NEB):c.19836C>T (p.Asp6612=) rs371194689 0.00003
NM_001164508.2(NEB):c.20154C>T (p.Ser6718=) rs753253128 0.00003
NM_001164508.2(NEB):c.20227C>T (p.Arg6743Cys) rs762552898 0.00003
NM_001164508.2(NEB):c.20367+15G>C rs886054931 0.00003
NM_001164508.2(NEB):c.20434A>G (p.Met6812Val) rs370764959 0.00003
NM_001164508.2(NEB):c.20578-8A>G rs368526624 0.00003
NM_001164508.2(NEB):c.20972G>A (p.Arg6991His) rs781020561 0.00003
NM_001164508.2(NEB):c.21155A>G (p.Tyr7052Cys) rs755165133 0.00003
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser) rs764674361 0.00003
NM_001164508.2(NEB):c.22433G>A (p.Arg7478His) rs767207985 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23189A>G (p.Asn7730Ser) rs775756899 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.23425C>T (p.Arg7809Trp) rs762220487 0.00003
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile) rs772064998 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile) rs1482662133 0.00003
NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592 0.00003
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly) rs772803200 0.00003
NM_001164508.2(NEB):c.24649C>T (p.Arg8217Cys) rs542275170 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.24812C>T (p.Ala8271Val) rs749977606 0.00003
NM_001164508.2(NEB):c.24999G>C (p.Gln8333His) rs774663967 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25184G>A (p.Arg8395Gln) rs779983347 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.3246G>A (p.Ala1082=) rs372664114 0.00003
NM_001164508.2(NEB):c.3399A>G (p.Thr1133=) rs543961404 0.00003
NM_001164508.2(NEB):c.3567T>A (p.Asp1189Glu) rs781515499 0.00003
NM_001164508.2(NEB):c.3640G>A (p.Glu1214Lys) rs764769462 0.00003
NM_001164508.2(NEB):c.3658G>A (p.Gly1220Ser) rs1320792762 0.00003
NM_001164508.2(NEB):c.4204A>G (p.Asn1402Asp) rs1219268531 0.00003
NM_001164508.2(NEB):c.448G>A (p.Val150Ile) rs376288418 0.00003
NM_001164508.2(NEB):c.475C>T (p.His159Tyr) rs776746330 0.00003
NM_001164508.2(NEB):c.5121A>G (p.Ala1707=) rs371962475 0.00003
NM_001164508.2(NEB):c.5182G>A (p.Ala1728Thr) rs371639863 0.00003
NM_001164508.2(NEB):c.5623A>G (p.Met1875Val) rs201940342 0.00003
NM_001164508.2(NEB):c.5671G>A (p.Ala1891Thr) rs1553484895 0.00003
NM_001164508.2(NEB):c.5828T>C (p.Leu1943Pro) rs531692437 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6067A>G (p.Met2023Val) rs779481792 0.00003
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6244G>A (p.Glu2082Lys) rs372667149 0.00003
NM_001164508.2(NEB):c.6325A>G (p.Thr2109Ala) rs578023308 0.00003
NM_001164508.2(NEB):c.6400A>G (p.Asn2134Asp) rs751935179 0.00003
NM_001164508.2(NEB):c.6415C>G (p.His2139Asp) rs886044641 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.6495+6G>A rs1022052250 0.00003
NM_001164508.2(NEB):c.65A>G (p.Glu22Gly) rs1335474782 0.00003
NM_001164508.2(NEB):c.6631T>C (p.Phe2211Leu) rs369374856 0.00003
NM_001164508.2(NEB):c.7252T>A (p.Trp2418Arg) rs780437384 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.7627C>T (p.Arg2543Trp) rs368148074 0.00003
NM_001164508.2(NEB):c.772G>A (p.Asp258Asn) rs267598926 0.00003
NM_001164508.2(NEB):c.7808C>T (p.Pro2603Leu) rs1259492469 0.00003
NM_001164508.2(NEB):c.8738T>C (p.Ile2913Thr) rs368373064 0.00003
NM_001164508.2(NEB):c.8873C>T (p.Ala2958Val) rs768058972 0.00003
NM_001164508.2(NEB):c.9151G>A (p.Ala3051Thr) rs751613683 0.00003
NM_001164508.2(NEB):c.9154C>T (p.Arg3052Trp) rs375216659 0.00003
NM_001164508.2(NEB):c.9366C>A (p.Asp3122Glu) rs1271867113 0.00003
NM_001164508.2(NEB):c.9473C>G (p.Ser3158Cys) rs377606986 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164508.2(NEB):c.9769G>A (p.Asp3257Asn) rs780275367 0.00003
NM_001256545.2(MEGF10):c.*1699G>A rs886059869 0.00003
NM_001256545.2(MEGF10):c.*22C>T rs770979380 0.00003
NM_001256545.2(MEGF10):c.*77C>T rs1237291224 0.00003
NM_001256545.2(MEGF10):c.*780A>C rs752257506 0.00003
NM_001256545.2(MEGF10):c.1100G>A (p.Arg367Gln) rs371522377 0.00003
NM_001256545.2(MEGF10):c.1868G>A (p.Arg623His) rs766501362 0.00003
NM_001256545.2(MEGF10):c.1894G>A (p.Val632Ile) rs561610841 0.00003
NM_001256545.2(MEGF10):c.1906G>A (p.Gly636Arg) rs201512679 0.00003
NM_001256545.2(MEGF10):c.2082G>T (p.Trp694Cys) rs896056668 0.00003
NM_001256545.2(MEGF10):c.2182G>A (p.Asp728Asn) rs781645558 0.00003
NM_001256545.2(MEGF10):c.2341A>G (p.Met781Val) rs1293120056 0.00003
NM_001256545.2(MEGF10):c.2579C>T (p.Ala860Val) rs777294451 0.00003
NM_001256545.2(MEGF10):c.2704G>A (p.Val902Ile) rs138034219 0.00003
NM_001256545.2(MEGF10):c.2864A>C (p.Asn955Thr) rs1353393054 0.00003
NM_001256545.2(MEGF10):c.3191T>A (p.Ile1064Asn) rs746195971 0.00003
NM_001256545.2(MEGF10):c.3196A>T (p.Asn1066Tyr) rs200848884 0.00003
NM_001256545.2(MEGF10):c.512C>T (p.Ala171Val) rs201824269 0.00003
NM_001256545.2(MEGF10):c.610G>A (p.Asp204Asn) rs764004112 0.00003
NM_001256545.2(MEGF10):c.775T>A (p.Trp259Arg) rs559323248 0.00003
NM_001256545.2(MEGF10):c.781-15T>C rs767842462 0.00003
NM_001267550.2(TTN):c.*636T>G rs886055214 0.00003
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys) rs374920916 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn) rs776913696 0.00003
NM_001267550.2(TTN):c.101108G>A (p.Arg33703Gln) rs576025689 0.00003
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu) rs370647845 0.00003
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr) rs373173599 0.00003
NM_001267550.2(TTN):c.102257G>C (p.Arg34086Thr) rs569650065 0.00003
NM_001267550.2(TTN):c.102752T>A (p.Met34251Lys) rs750864230 0.00003
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe) rs773984912 0.00003
NM_001267550.2(TTN):c.102823G>A (p.Val34275Ile) rs879063086 0.00003
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His) rs756023873 0.00003
NM_001267550.2(TTN):c.103391A>C (p.Lys34464Thr) rs1559023019 0.00003
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala) rs183912990 0.00003
NM_001267550.2(TTN):c.103535C>T (p.Pro34512Leu) rs762629564 0.00003
NM_001267550.2(TTN):c.103679A>G (p.Lys34560Arg) rs544590023 0.00003
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His) rs550047610 0.00003
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr) rs573782418 0.00003
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys) rs768575577 0.00003
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685 0.00003
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln) rs397517788 0.00003
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg) rs761644963 0.00003
NM_001267550.2(TTN):c.104246G>A (p.Arg34749Gln) rs771716923 0.00003
NM_001267550.2(TTN):c.104359A>G (p.Lys34787Glu) rs769788281 0.00003
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro) rs368765896 0.00003
NM_001267550.2(TTN):c.104734G>A (p.Glu34912Lys) rs375542215 0.00003
NM_001267550.2(TTN):c.105301T>C (p.Ser35101Pro) rs759062212 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.105520C>T (p.Arg35174Cys) rs778207634 0.00003
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp) rs397517796 0.00003
NM_001267550.2(TTN):c.105642C>A (p.Phe35214Leu) rs560557634 0.00003
NM_001267550.2(TTN):c.105680C>T (p.Ala35227Val) rs794727541 0.00003
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) rs148865574 0.00003
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro) rs370094513 0.00003
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg) rs766337455 0.00003
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala) rs369870182 0.00003
NM_001267550.2(TTN):c.106996C>G (p.Gln35666Glu) rs750660824 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.11359G>A (p.Ala3787Thr) rs779416521 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.12813C>A (p.His4271Gln) rs373302409 0.00003
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile) rs756186781 0.00003
NM_001267550.2(TTN):c.13048G>A (p.Val4350Met) rs781206839 0.00003
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344 0.00003
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly) rs756793304 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met) rs756844952 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly) rs760722200 0.00003
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser) rs774425875 0.00003
NM_001267550.2(TTN):c.16863G>A (p.Glu5621=) rs727504441 0.00003
NM_001267550.2(TTN):c.18646G>A (p.Val6216Met) rs369242073 0.00003
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly) rs367868361 0.00003
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val) rs761041978 0.00003
NM_001267550.2(TTN):c.19786A>G (p.Ile6596Val) rs369108292 0.00003
NM_001267550.2(TTN):c.19933A>G (p.Thr6645Ala) rs370671112 0.00003
NM_001267550.2(TTN):c.19963G>A (p.Asp6655Asn) rs397517493 0.00003
NM_001267550.2(TTN):c.20397G>A (p.Arg6799=) rs376573256 0.00003
NM_001267550.2(TTN):c.20474C>T (p.Thr6825Ile) rs763006525 0.00003
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile) rs747479318 0.00003
NM_001267550.2(TTN):c.21119G>A (p.Arg7040Gln) rs754476903 0.00003
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp) rs375219301 0.00003
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.22240+7A>C rs368101794 0.00003
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly) rs372826489 0.00003
NM_001267550.2(TTN):c.22531C>T (p.Pro7511Ser) rs727505333 0.00003
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser) rs368750726 0.00003
NM_001267550.2(TTN):c.22942G>A (p.Glu7648Lys) rs397517502 0.00003
NM_001267550.2(TTN):c.2370+9A>G rs373443384 0.00003
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr) rs372143487 0.00003
NM_001267550.2(TTN):c.24833G>C (p.Gly8278Ala) rs778611558 0.00003
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128 0.00003
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp) rs898098652 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.26551T>G (p.Cys8851Gly) rs558169834 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.26C>T (p.Thr9Met) rs146123323 0.00003
NM_001267550.2(TTN):c.27124G>A (p.Val9042Ile) rs766095051 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.28456A>G (p.Ile9486Val) rs1327402224 0.00003
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro) rs749146795 0.00003
NM_001267550.2(TTN):c.29253C>T (p.Gly9751=) rs771825568 0.00003
NM_001267550.2(TTN):c.29785G>A (p.Glu9929Lys) rs1204774037 0.00003
NM_001267550.2(TTN):c.30137C>T (p.Thr10046Ile) rs535268419 0.00003
NM_001267550.2(TTN):c.31349-4A>T rs1029227575 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr) rs769915175 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32020C>G (p.Leu10674Val) rs766003250 0.00003
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr) rs774643116 0.00003
NM_001267550.2(TTN):c.32555-12G>T rs397517540 0.00003
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu) rs200732179 0.00003
NM_001267550.2(TTN):c.32888-3C>A rs397517544 0.00003
NM_001267550.2(TTN):c.32C>T (p.Pro11Leu) rs768624416 0.00003
NM_001267550.2(TTN):c.33664+6C>G rs1060500524 0.00003
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe) rs1227088008 0.00003
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg) rs781317174 0.00003
NM_001267550.2(TTN):c.35959+5C>T rs758684276 0.00003
NM_001267550.2(TTN):c.36281-9T>C rs760175676 0.00003
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser) rs779794774 0.00003
NM_001267550.2(TTN):c.36617-5T>A rs771059357 0.00003
NM_001267550.2(TTN):c.36680C>T (p.Pro12227Leu) rs767455362 0.00003
NM_001267550.2(TTN):c.38372G>C (p.Arg12791Pro) rs1237577240 0.00003
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg) rs574694398 0.00003
NM_001267550.2(TTN):c.39056C>T (p.Pro13019Leu) rs763845436 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.40511T>G (p.Leu13504Arg) rs776115575 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.41018C>T (p.Pro13673Leu) rs765821223 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.41569G>A (p.Ala13857Thr) rs144963490 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) rs746667196 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001267550.2(TTN):c.43538G>A (p.Ser14513Asn) rs557216748 0.00003
NM_001267550.2(TTN):c.44117A>G (p.Asn14706Ser) rs878854309 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44525C>T (p.Thr14842Ile) rs370782364 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp) rs751606948 0.00003
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His) rs755611206 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys) rs762723635 0.00003
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His) rs757663389 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr) rs886055272 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln) rs771224957 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.48359T>C (p.Val16120Ala) rs745999025 0.00003
NM_001267550.2(TTN):c.485T>A (p.Leu162Gln) rs145438758 0.00003
NM_001267550.2(TTN):c.49129G>A (p.Asp16377Asn) rs757542062 0.00003
NM_001267550.2(TTN):c.49310T>A (p.Val16437Asp) rs767768313 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp) rs727503620 0.00003
NM_001267550.2(TTN):c.50597G>A (p.Arg16866Lys) rs774137928 0.00003
NM_001267550.2(TTN):c.50669A>C (p.Glu16890Ala) rs752204728 0.00003
NM_001267550.2(TTN):c.52052T>C (p.Val17351Ala) rs565423253 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr) rs756689649 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.5308A>G (p.Arg1770Gly) rs780733773 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val) rs371424482 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.55619T>C (p.Val18540Ala) rs779623773 0.00003
NM_001267550.2(TTN):c.5581C>T (p.Arg1861Cys) rs532733393 0.00003
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser) rs368350844 0.00003
NM_001267550.2(TTN):c.56096G>A (p.Gly18699Glu) rs1060500533 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys) rs397517658 0.00003
NM_001267550.2(TTN):c.56573G>A (p.Arg18858Gln) rs755848019 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg) rs750947988 0.00003
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) rs376930907 0.00003
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His) rs1023184567 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.58609A>T (p.Thr19537Ser) rs750320421 0.00003
NM_001267550.2(TTN):c.5912C>G (p.Thr1971Ser) rs778898929 0.00003
NM_001267550.2(TTN):c.59243G>A (p.Arg19748Gln) rs142791877 0.00003
NM_001267550.2(TTN):c.59725A>G (p.Ile19909Val) rs1060500484 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.60298G>A (p.Ala20100Thr) rs748929812 0.00003
NM_001267550.2(TTN):c.617C>A (p.Thr206Lys) rs768427369 0.00003
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His) rs727503587 0.00003
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.62703A>G (p.Leu20901=) rs749180542 0.00003
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His) rs775651612 0.00003
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg) rs575313522 0.00003
NM_001267550.2(TTN):c.6322G>A (p.Glu2108Lys) rs762999586 0.00003
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala) rs183595734 0.00003
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn) rs794729474 0.00003
NM_001267550.2(TTN):c.64047C>T (p.Gly21349=) rs775357802 0.00003
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile) rs772377673 0.00003
NM_001267550.2(TTN):c.64195G>A (p.Asp21399Asn) rs749018114 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.65144G>T (p.Arg21715Leu) rs368450785 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.66099A>C (p.Glu22033Asp) rs768277403 0.00003
NM_001267550.2(TTN):c.66566T>C (p.Ile22189Thr) rs369934753 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His) rs537871205 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.68390C>T (p.Pro22797Leu) rs1371471381 0.00003
NM_001267550.2(TTN):c.68449C>A (p.Arg22817=) rs371678190 0.00003
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His) rs761566436 0.00003
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly) rs749655939 0.00003
NM_001267550.2(TTN):c.71719G>A (p.Ala23907Thr) rs1309139547 0.00003
NM_001267550.2(TTN):c.71793A>G (p.Pro23931=) rs780920316 0.00003
NM_001267550.2(TTN):c.71879T>C (p.Ile23960Thr) rs568223521 0.00003
NM_001267550.2(TTN):c.72232A>G (p.Ile24078Val) rs876658080 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615 0.00003
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) rs794727456 0.00003
NM_001267550.2(TTN):c.73568C>A (p.Pro24523Gln) rs753557799 0.00003
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu) rs370763285 0.00003
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser) rs776423108 0.00003
NM_001267550.2(TTN):c.74185G>A (p.Ala24729Thr) rs372007344 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.74961C>T (p.Asn24987=) rs754043680 0.00003
NM_001267550.2(TTN):c.76069C>T (p.Arg25357Cys) rs145437410 0.00003
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His) rs749274818 0.00003
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457 0.00003
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp) rs373587432 0.00003
NM_001267550.2(TTN):c.78589C>A (p.Pro26197Thr) rs747052899 0.00003
NM_001267550.2(TTN):c.79281C>G (p.Asp26427Glu) rs766994654 0.00003
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) rs368484949 0.00003
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile) rs886042786 0.00003
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.82241G>A (p.Arg27414Gln) rs763336230 0.00003
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys) rs377169807 0.00003
NM_001267550.2(TTN):c.83410G>A (p.Glu27804Lys) rs759095633 0.00003
NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu) rs761633407 0.00003
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu) rs72648220 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85428A>G (p.Gln28476=) rs777939514 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00003
NM_001267550.2(TTN):c.86560G>A (p.Val28854Met) rs769060885 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.87632G>A (p.Arg29211His) rs370948914 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.89003A>T (p.Tyr29668Phe) rs760499831 0.00003
NM_001267550.2(TTN):c.9067C>T (p.His3023Tyr) rs763992518 0.00003
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448 0.00003
NM_001267550.2(TTN):c.9163+5G>C rs775448783 0.00003
NM_001267550.2(TTN):c.92765C>T (p.Ala30922Val) rs756786292 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.93182G>A (p.Arg31061His) rs727504923 0.00003
NM_001267550.2(TTN):c.93242C>T (p.Ala31081Val) rs1032232850 0.00003
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly) rs1176407616 0.00003
NM_001267550.2(TTN):c.9356C>T (p.Thr3119Ile) rs1444407818 0.00003
NM_001267550.2(TTN):c.93581A>G (p.Tyr31194Cys) rs543223589 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.93886G>A (p.Val31296Ile) rs794729534 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.9442C>T (p.Arg3148Cys) rs372196051 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.95336T>C (p.Ile31779Thr) rs1460359915 0.00003
NM_001267550.2(TTN):c.95557C>T (p.Arg31853Cys) rs727503542 0.00003
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys) rs72648261 0.00003
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) rs745962752 0.00003
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg) rs747323263 0.00003
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His) rs759948951 0.00003
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser) rs975713554 0.00003
NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys) rs886042755 0.00003
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys) rs371249764 0.00003
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu) rs397517792 0.00003
NM_001267550.2(TTN):c.97324G>A (p.Ala32442Thr) rs778341120 0.00003
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) rs201364164 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98075C>G (p.Thr32692Arg) rs727505311 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) rs199647622 0.00003
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) rs201257063 0.00003
NM_001267550.2(TTN):c.98954C>A (p.Pro32985His) rs1387380794 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys) rs377456237 0.00003
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
NM_001368067.1(LDB3):c.331A>G (p.Asn111Asp) rs376900496 0.00003
NM_001368067.1(LDB3):c.817G>A (p.Gly273Ser) rs771037817 0.00003
NM_001378030.1(CCDC78):c.1230G>A (p.Leu410=) rs768794447 0.00003
NM_001378030.1(CCDC78):c.1248G>A (p.Met416Ile) rs1045075829 0.00003
NM_001378030.1(CCDC78):c.165G>T (p.Lys55Asn) rs371931071 0.00003
NM_001378030.1(CCDC78):c.341C>T (p.Pro114Leu) rs749051279 0.00003
NM_001378030.1(CCDC78):c.364C>T (p.Pro122Ser) rs756781117 0.00003
NM_001378030.1(CCDC78):c.367C>T (p.Arg123Trp) rs144406163 0.00003
NM_001378030.1(CCDC78):c.502G>A (p.Glu168Lys) rs777794522 0.00003
NM_001378030.1(CCDC78):c.70C>T (p.Arg24Ter) rs887921636 0.00003
NM_001378030.1(CCDC78):c.880C>T (p.Arg294Trp) rs772096201 0.00003
NM_001378030.1(CCDC78):c.884C>A (p.Ala295Asp) rs1418782154 0.00003
NM_001378030.1(CCDC78):c.890G>A (p.Arg297His) rs768251031 0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr) rs1444907403 0.00003
NM_001382567.1(STIM1):c.1856A>G (p.His619Arg) rs1176059435 0.00003
NM_001382567.1(STIM1):c.2104C>T (p.Arg702Trp) rs755346239 0.00003
NM_001382567.1(STIM1):c.589A>G (p.Thr197Ala) rs367888213 0.00003
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu) rs745495679 0.00003
NM_001458.5(FLNC):c.1211-5G>A rs769599454 0.00003
NM_001458.5(FLNC):c.1471G>A (p.Val491Met) rs770264114 0.00003
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln) rs955475416 0.00003
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met) rs779802575 0.00003
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp) rs896068048 0.00003
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) rs746478952 0.00003
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala) rs781169622 0.00003
NM_001458.5(FLNC):c.2811+6C>T rs750718546 0.00003
NM_001458.5(FLNC):c.2845G>C (p.Asp949His) rs761905908 0.00003
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala) rs748785077 0.00003
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser) rs747678267 0.00003
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys) rs753591663 0.00003
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr) rs556477946 0.00003
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His) rs765435961 0.00003
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg) rs1469272964 0.00003
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met) rs753945728 0.00003
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met) rs587780337 0.00003
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn) rs1215344798 0.00003
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His) rs371508414 0.00003
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) rs368977589 0.00003
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met) rs781708543 0.00003
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His) rs757219498 0.00003
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met) rs780917403 0.00003
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) rs1175931652 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val) rs369110441 0.00003
NM_001458.5(FLNC):c.898G>A (p.Val300Met) rs765885585 0.00003
NM_001458.5(FLNC):c.919G>A (p.Val307Met) rs763968152 0.00003
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) rs973419081 0.00003
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr) rs549628424 0.00003
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser) rs566695601 0.00003
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser) rs756665946 0.00003
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) rs752293954 0.00003
NM_001848.3(COL6A1):c.1505C>T (p.Pro502Leu) rs398123632 0.00003
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1957-10G>A rs761863286 0.00003
NM_001848.3(COL6A1):c.1960G>A (p.Glu654Lys) rs375318905 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val) rs565089447 0.00003
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln) rs747093518 0.00003
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser) rs375694341 0.00003
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile) rs768434256 0.00003
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=) rs150999832 0.00003
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile) rs7283272 0.00003
NM_001849.4(COL6A2):c.1969+4A>C rs775997945 0.00003
NM_001849.4(COL6A2):c.1969+6C>T rs374669895 0.00003
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala) rs774611719 0.00003
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys) rs748592288 0.00003
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr) rs200072495 0.00003
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp) rs376880198 0.00003
NM_001849.4(COL6A2):c.2548C>T (p.His850Tyr) rs374166613 0.00003
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu) rs772894756 0.00003
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr) rs376173871 0.00003
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met) rs367980010 0.00003
NM_001849.4(COL6A2):c.284G>A (p.Arg95His) rs886042690 0.00003
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg) rs113509166 0.00003
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg) rs886044068 0.00003
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys) rs770150581 0.00003
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu) rs745566911 0.00003
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.233G>T (p.Arg78Leu) rs573916832 0.00003
NM_001927.4(DES):c.367A>G (p.Ile123Val) rs376048590 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.461T>A (p.Leu154His) rs755106109 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) rs863224253 0.00003
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) rs367723039 0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) rs763471000 0.00003
NM_002488.4(NDUFA2):c.-53A>G rs747127939 0.00003
NM_002495.4(NDUFS4):c.360C>G (p.Pro120=) rs368876333 0.00003
NM_002495.4(NDUFS4):c.77C>T (p.Ser26Phe) rs201430870 0.00003
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2704C>G (p.Leu902Val) rs745528696 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3215C>G (p.Thr1072Ser) rs530757118 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.739C>G (p.Leu247Val) rs754696832 0.00003
NM_002693.3(POLG):c.895A>G (p.Met299Val) rs140262282 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003000.3(SDHB):c.544G>A (p.Gly182Arg) rs201928318 0.00003
NM_003283.6(TNNT1):c.355G>A (p.Glu119Lys) rs752992299 0.00003
NM_003283.6(TNNT1):c.47-6C>G rs375682055 0.00003
NM_003283.6(TNNT1):c.508C>G (p.Gln170Glu) rs62126315 0.00003
NM_003283.6(TNNT1):c.815G>A (p.Arg272His) rs533424787 0.00003
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr) rs754893758 0.00003
NM_004168.4(SDHA):c.149C>T (p.Ser50Phe) rs369321221 0.00003
NM_004168.4(SDHA):c.1542C>G (p.Ser514Arg) rs1301221379 0.00003
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr) rs150326789 0.00003
NM_004168.4(SDHA):c.1573G>A (p.Val525Met) rs979815942 0.00003
NM_004168.4(SDHA):c.1666A>G (p.Met556Val) rs980397872 0.00003
NM_004168.4(SDHA):c.1895T>C (p.Val632Ala) rs774609159 0.00003
NM_004168.4(SDHA):c.191C>T (p.Ala64Val) rs760510019 0.00003
NM_004168.4(SDHA):c.1935C>G (p.Ile645Met) rs762128553 0.00003
NM_004168.4(SDHA):c.1936G>A (p.Asp646Asn) rs376986935 0.00003
NM_004168.4(SDHA):c.1942A>C (p.Thr648Pro) rs758054627 0.00003
NM_004168.4(SDHA):c.391G>A (p.Asp131Asn) rs1324014370 0.00003
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala) rs373340696 0.00003
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481 0.00003
NM_004168.4(SDHA):c.706G>A (p.Ala236Thr) rs774160524 0.00003
NM_004168.4(SDHA):c.800C>T (p.Thr267Met) rs777167108 0.00003
NM_004281.4(BAG3):c.*199A>C rs950081061 0.00003
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro) rs774085746 0.00003
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser) rs1031608025 0.00003
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu) rs373446989 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004281.4(BAG3):c.854C>T (p.Thr285Met) rs375650805 0.00003
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser) rs376832654 0.00003
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser) rs375285237 0.00003
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu) rs774161895 0.00003
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu) rs371991808 0.00003
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser) rs753056634 0.00003
NM_004369.4(COL6A3):c.3679+4C>T rs774411894 0.00003
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe) rs144314743 0.00003
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser) rs747965230 0.00003
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln) rs1311406995 0.00003
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His) rs774808500 0.00003
NM_004369.4(COL6A3):c.5315A>G (p.Lys1772Arg) rs140929211 0.00003
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe) rs754788931 0.00003
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val) rs201539582 0.00003
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu) rs113331139 0.00003
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) rs786205870 0.00003
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg) rs780964113 0.00003
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val) rs372278071 0.00003
NM_004369.4(COL6A3):c.8201G>A (p.Arg2734Gln) rs115116398 0.00003
NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr) rs202175607 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala) rs775809424 0.00003
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val) rs1202850966 0.00003
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu) rs199503279 0.00003
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala) rs370684538 0.00003
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu) rs201382636 0.00003
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys) rs768127770 0.00003
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val) rs1188543260 0.00003
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile) rs536615203 0.00003
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser) rs774035582 0.00003
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala) rs377553583 0.00003
NM_004370.6(COL12A1):c.4000+4C>G rs375772555 0.00003
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp) rs548889128 0.00003
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu) rs755159927 0.00003
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=) rs775579405 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=) rs900917198 0.00003
NM_004544.4(NDUFA10):c.*1011A>G rs575477219 0.00003
NM_004544.4(NDUFA10):c.*2648C>T rs953906857 0.00003
NM_004544.4(NDUFA10):c.*3098A>T rs886055813 0.00003
NM_004544.4(NDUFA10):c.865C>T (p.Arg289Cys) rs762669820 0.00003
NM_004553.6(NDUFS6):c.24C>T (p.Cys8=) rs886060511 0.00003
NM_005006.7(NDUFS1):c.-61G>C rs367762150 0.00003
NM_005006.7(NDUFS1):c.70A>G (p.Thr24Ala) rs774332882 0.00003
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) rs748770403 0.00003
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_006063.3(KLHL41):c.1448T>C (p.Ile483Thr) rs978825115 0.00003
NM_006063.3(KLHL41):c.1454G>A (p.Arg485His) rs760007708 0.00003
NM_006063.3(KLHL41):c.1562A>G (p.Lys521Arg) rs778003504 0.00003
NM_006790.3(MYOT):c.-286C>G rs1281967239 0.00003
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) rs1489391510 0.00003
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) rs372167756 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) rs1163332539 0.00003
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) rs201113539 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.1640G>A (p.Arg547Gln) rs201968826 0.00003
NM_007078.3(LDB3):c.1789T>A (p.Tyr597Asn) rs727503131 0.00003
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys) rs754552434 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn) rs201773873 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.897-6664G>A rs376355443 0.00003
NM_007078.3(LDB3):c.897-6909G>A rs532856980 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_007215.3(POLG2):c.-87G>A rs886053253 0.00003
NM_007215.4(POLG2):c.-85C>T rs886053252 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_014165.4(NDUFAF4):c.*1334G>A rs763941216 0.00003
NM_014165.4(NDUFAF4):c.-49C>T rs372635399 0.00003
NM_015602.4(TOR1AIP1):c.1651C>G (p.His551Asp) rs756853004 0.00003
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn) rs375448136 0.00003
NM_015602.4(TOR1AIP1):c.327G>C (p.Arg109Ser) rs770530581 0.00003
NM_015602.4(TOR1AIP1):c.554-1G>A rs200993053 0.00003
NM_015602.4(TOR1AIP1):c.857C>T (p.Thr286Ile) rs767019881 0.00003
NM_015713.5(RRM2B):c.755G>A (p.Arg252Lys) rs754931572 0.00003
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_016474.5(CCDC174):c.1183G>C (p.Asp395His) rs367970098 0.00003
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr) rs368184254 0.00003
NM_017534.6(MYH2):c.-60T>C rs886052575 0.00003
NM_017534.6(MYH2):c.1266+5G>A rs758217131 0.00003
NM_017534.6(MYH2):c.1333C>T (p.Arg445Cys) rs752702044 0.00003
NM_017534.6(MYH2):c.2225T>C (p.Ile742Thr) rs773415186 0.00003
NM_017534.6(MYH2):c.2303A>C (p.Lys768Thr) rs1358118988 0.00003
NM_017534.6(MYH2):c.2378G>A (p.Arg793Gln) rs578188627 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017534.6(MYH2):c.265G>A (p.Glu89Lys) rs759350345 0.00003
NM_017534.6(MYH2):c.2704G>A (p.Glu902Lys) rs781514305 0.00003
NM_017534.6(MYH2):c.3152G>A (p.Arg1051His) rs1027280616 0.00003
NM_017534.6(MYH2):c.3440G>A (p.Arg1147Gln) rs760262646 0.00003
NM_017534.6(MYH2):c.3542G>A (p.Arg1181His) rs773196254 0.00003
NM_017534.6(MYH2):c.431G>A (p.Arg144Gln) rs773318939 0.00003
NM_017534.6(MYH2):c.4376T>C (p.Leu1459Pro) rs765135888 0.00003
NM_017534.6(MYH2):c.4406C>T (p.Thr1469Met) rs760961929 0.00003
NM_017534.6(MYH2):c.4573G>A (p.Gly1525Arg) rs910402127 0.00003
NM_017534.6(MYH2):c.4918C>T (p.Arg1640Cys) rs375371672 0.00003
NM_017534.6(MYH2):c.508C>T (p.Arg170Ter) rs750232956 0.00003
NM_017534.6(MYH2):c.5405G>A (p.Arg1802His) rs777282924 0.00003
NM_017534.6(MYH2):c.5476C>T (p.Arg1826Trp) rs755265718 0.00003
NM_017534.6(MYH2):c.5641G>A (p.Val1881Met) rs775106499 0.00003
NM_017534.6(MYH2):c.731C>T (p.Ser244Phe) rs201044964 0.00003
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712 0.00003
NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys) rs779998857 0.00003
NM_020451.3(SELENON):c.1158C>G (p.Ile386Met) rs372243527 0.00003
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys) rs769840172 0.00003
NM_020451.3(SELENON):c.1339G>A (p.Val447Met) rs746942226 0.00003
NM_020451.3(SELENON):c.146G>A (p.Cys49Tyr) rs1023254639 0.00003
NM_020451.3(SELENON):c.1535C>T (p.Ala512Val) rs202167521 0.00003
NM_020451.3(SELENON):c.1592A>G (p.Asn531Ser) rs546041571 0.00003
NM_020451.3(SELENON):c.545G>A (p.Arg182His) rs200224030 0.00003
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338 0.00003
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val) rs775410920 0.00003
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806 0.00003
NM_025152.3(NUBPL):c.*1370C>T rs1031134034 0.00003
NM_025152.3(NUBPL):c.*1621C>T rs1315512923 0.00003
NM_025152.3(NUBPL):c.*2036A>C rs886050472 0.00003
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr) rs199476411 0.00003
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu) rs138187845 0.00003
NM_032608.7(MYO18B):c.6223C>T (p.Arg2075Trp) rs565221932 0.00003
NM_032608.7(MYO18B):c.7601C>T (p.Ala2534Val) rs532589500 0.00003
NM_032790.4(ORAI1):c.140C>T (p.Pro47Leu) rs781855511 0.00003
NM_133379.5(TTN):c.10649G>A (p.Arg3550Gln) rs189154521 0.00003
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter) rs755956493 0.00003
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val) rs727504687 0.00003
NM_133379.5(TTN):c.15488G>A (p.Arg5163His) rs150492317 0.00003
NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter) rs1450038140 0.00003
NM_133379.5(TTN):c.16003G>A (p.Glu5335Lys) rs1485174648 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_139343.3(BIN1):c.-62G>A rs886054836 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) rs758494519 0.00003
NM_139343.3(BIN1):c.1460C>G (p.Ser487Cys) rs1342661066 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu) rs587783342 0.00003
NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) rs769724273 0.00003
NM_139343.3(BIN1):c.544G>A (p.Ala182Thr) rs779607755 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.823G>A (p.Gly275Arg) rs771506242 0.00003
NM_139343.3(BIN1):c.920C>G (p.Thr307Ser) rs199551366 0.00003
NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu) rs762866281 0.00003
NM_145064.3(STAC3):c.895A>G (p.Asn299Asp) rs754269738 0.00003
NM_152263.4(TPM3):c.*2101T>C rs151275058 0.00003
NM_152263.4(TPM3):c.*2423G>A rs1243423616 0.00003
NM_152263.4(TPM3):c.*303A>C rs555108967 0.00003
NM_152263.4(TPM3):c.*903C>T rs545353984 0.00003
NM_152393.4(KLHL40):c.1279C>T (p.Arg427Cys) rs577804609 0.00003
NM_152393.4(KLHL40):c.1292C>T (p.Ser431Leu) rs545767433 0.00003
NM_152393.4(KLHL40):c.1396G>T (p.Val466Leu) rs773720799 0.00003
NM_152393.4(KLHL40):c.1795G>C (p.Glu599Gln) rs764539039 0.00003
NM_152393.4(KLHL40):c.468C>G (p.Ile156Met) rs1378856635 0.00003
NM_152393.4(KLHL40):c.769G>A (p.Val257Met) rs759025628 0.00003
NM_174889.5(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045 0.00003
NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser) rs373483102 0.00003
NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly) rs775938178 0.00003
NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr) rs376653017 0.00003
NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys) rs1467437318 0.00003
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser) rs755727319 0.00003
NM_198271.5(LMOD3):c.838A>G (p.Lys280Glu) rs934465837 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_198859.4(PRICKLE2):c.1597A>G (p.Met533Val) rs758585243 0.00003
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His) rs375448087 0.00003
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile) rs771413626 0.00003
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His) rs142077804 0.00003
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg) rs758228643 0.00003
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys) rs188632189 0.00003
NM_199069.2(NDUFAF3):c.338-12A>C rs774901107 0.00003
NM_213720.3(CHCHD10):c.327C>G (p.Phe109Leu) rs1438034155 0.00003
NC_000012.12:g.121626755C>G rs1253665950 0.00002
NC_000012.12:g.121626928T>C rs201617764 0.00002
NC_000012.12:g.121641254G>A rs533220170 0.00002
NC_000012.12:g.121641369C>A rs782472239 0.00002
NC_000012.12:g.121641491G>A rs1485414099 0.00002
NC_000012.12:g.121641560G>A rs368440417 0.00002
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) rs528215739 0.00002
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) rs746816406 0.00002
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val) rs778481612 0.00002
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys) rs147035391 0.00002
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu) rs777043982 0.00002
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys) rs777934972 0.00002
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys) rs748720444 0.00002
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys) rs763848203 0.00002
NM_000069.3(CACNA1S):c.1120G>A (p.Glu374Lys) rs758280510 0.00002
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His) rs553739117 0.00002
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys) rs751671175 0.00002
NM_000069.3(CACNA1S):c.1996G>A (p.Glu666Lys) rs377082783 0.00002
NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) rs759887262 0.00002
NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) rs751833750 0.00002
NM_000069.3(CACNA1S):c.2767G>A (p.Val923Met) rs571902899 0.00002
NM_000069.3(CACNA1S):c.2853+6C>T rs376299130 0.00002
NM_000069.3(CACNA1S):c.3053+19C>G rs372276351 0.00002
NM_000069.3(CACNA1S):c.3322C>G (p.Gln1108Glu) rs765685405 0.00002
NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) rs762394267 0.00002
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met) rs1224786667 0.00002
NM_000069.3(CACNA1S):c.4441+3G>A rs886045795 0.00002
NM_000069.3(CACNA1S):c.4502C>A (p.Thr1501Asn) rs928580339 0.00002
NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) rs946904077 0.00002
NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) rs1187716461 0.00002
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) rs767790285 0.00002
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp) rs555596737 0.00002
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln) rs768015104 0.00002
NM_000069.3(CACNA1S):c.764C>T (p.Thr255Ile) rs763637720 0.00002
NM_000069.3(CACNA1S):c.772G>A (p.Gly258Ser) rs886045801 0.00002
NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly) rs201585867 0.00002
NM_000083.3(CLCN1):c.1781G>T (p.Gly594Val) rs746346988 0.00002
NM_000083.3(CLCN1):c.2786C>T (p.Thr929Ile) rs777708543 0.00002
NM_000116.5(TAFAZZIN):c.*33G>A rs782129745 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val) rs782240044 0.00002
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val) rs782401618 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp) rs781893396 0.00002
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys) rs926124671 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1507G>A (p.Val503Met) rs138386385 0.00002
NM_000182.5(HADHA):c.1596G>C (p.Gln532His) rs1004898768 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala) rs1277103504 0.00002
NM_000182.5(HADHA):c.1889G>A (p.Arg630His) rs150850348 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val) rs766188621 0.00002
NM_000182.5(HADHA):c.199G>C (p.Glu67Gln) rs781303622 0.00002
NM_000182.5(HADHA):c.386A>G (p.Lys129Arg) rs769625802 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.677-3T>C rs376306806 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000183.3(HADHB):c.134C>T (p.Thr45Met) rs754537494 0.00002
NM_000183.3(HADHB):c.353A>T (p.Glu118Val) rs761005966 0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211 0.00002
NM_000183.3(HADHB):c.574A>G (p.Met192Val) rs772405727 0.00002
NM_000183.3(HADHB):c.589T>C (p.Ser197Pro) rs142475516 0.00002
NM_000183.3(HADHB):c.713G>A (p.Arg238Gln) rs369313023 0.00002
NM_000183.3(HADHB):c.844C>T (p.Arg282Cys) rs374979465 0.00002
NM_000183.3(HADHB):c.965C>T (p.Ala322Val) rs758786432 0.00002
NM_000252.3(MTM1):c.1724A>G (p.Gln575Arg) rs1347335331 0.00002
NM_000252.3(MTM1):c.175A>G (p.Ile59Val) rs782451760 0.00002
NM_000252.3(MTM1):c.206G>A (p.Arg69His) rs782277980 0.00002
NM_000252.3(MTM1):c.233A>T (p.Asp78Val) rs782215492 0.00002
NM_000252.3(MTM1):c.278T>C (p.Ile93Thr) rs199821243 0.00002
NM_000252.3(MTM1):c.528+7T>C rs782460237 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2868T>C (p.Asp956=) rs140718120 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4134C>T (p.Asp1378=) rs770630028 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp) rs769112519 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000334.4(SCN4A):c.-23G>T rs747406998 0.00002
NM_000334.4(SCN4A):c.1009G>C (p.Asp337His) rs776665275 0.00002
NM_000334.4(SCN4A):c.1064A>G (p.Asn355Ser) rs374835121 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.164G>A (p.Arg55Gln) rs376523210 0.00002
NM_000334.4(SCN4A):c.181G>A (p.Gly61Ser) rs759771825 0.00002
NM_000334.4(SCN4A):c.2198T>C (p.Ile733Thr) rs753865616 0.00002
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg) rs1028907866 0.00002
NM_000334.4(SCN4A):c.2483G>A (p.Arg828His) rs556099012 0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser) rs899627353 0.00002
NM_000334.4(SCN4A):c.2650G>A (p.Glu884Lys) rs780708338 0.00002
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=) rs769634298 0.00002
NM_000334.4(SCN4A):c.2802G>C (p.Glu934Asp) rs371920760 0.00002
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro) rs752396330 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg) rs544082594 0.00002
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395 0.00002
NM_000334.4(SCN4A):c.3385C>T (p.Arg1129Trp) rs772071113 0.00002
NM_000334.4(SCN4A):c.3442-15C>A rs763401184 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.419C>T (p.Thr140Ile) rs967530693 0.00002
NM_000334.4(SCN4A):c.4547T>C (p.Met1516Thr) rs369886445 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.4994A>C (p.Asp1665Ala) rs758866720 0.00002
NM_000334.4(SCN4A):c.5086G>A (p.Ala1696Thr) rs769365503 0.00002
NM_000334.4(SCN4A):c.739G>C (p.Val247Leu) rs755321637 0.00002
NM_000334.4(SCN4A):c.757G>A (p.Val253Met) rs772899378 0.00002
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe) rs764694733 0.00002
NM_000334.4(SCN4A):c.82A>C (p.Ile28Leu) rs886053250 0.00002
NM_000334.4(SCN4A):c.863A>G (p.Asn288Ser) rs771965654 0.00002
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly) rs752456288 0.00002
NM_000432.4(MYL2):c.366G>T (p.Met122Ile) rs374439285 0.00002
NM_000540.3(RYR1):c.-31C>T rs375755030 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.10282A>G (p.Asn3428Asp) rs763976533 0.00002
NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln) rs754849970 0.00002
NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr) rs376338203 0.00002
NM_000540.3(RYR1):c.11198G>A (p.Cys3733Tyr) rs777478644 0.00002
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp) rs910313832 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.11600G>A (p.Arg3867His) rs758651267 0.00002
NM_000540.3(RYR1):c.11726C>T (p.Thr3909Met) rs762258310 0.00002
NM_000540.3(RYR1):c.12322C>G (p.Gln4108Glu) rs774414325 0.00002
NM_000540.3(RYR1):c.12355A>T (p.Asn4119Tyr) rs193922848 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg) rs757157750 0.00002
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys) rs748844266 0.00002
NM_000540.3(RYR1):c.13313T>G (p.Val4438Gly) rs1328605630 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.1372T>G (p.Leu458Val) rs369932139 0.00002
NM_000540.3(RYR1):c.13867G>A (p.Asp4623Asn) rs547709829 0.00002
NM_000540.3(RYR1):c.13933C>T (p.Arg4645Trp) rs377667641 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14132C>G (p.Ser4711Cys) rs201147958 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser) rs773211015 0.00002
NM_000540.3(RYR1):c.2780C>T (p.Thr927Met) rs751728775 0.00002
NM_000540.3(RYR1):c.2936C>T (p.Ala979Val) rs769902566 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) rs773926353 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys) rs777117206 0.00002
NM_000540.3(RYR1):c.4004G>A (p.Arg1335His) rs750256869 0.00002
NM_000540.3(RYR1):c.4205C>T (p.Pro1402Leu) rs766135560 0.00002
NM_000540.3(RYR1):c.424+4C>A rs772775579 0.00002
NM_000540.3(RYR1):c.4520G>A (p.Arg1507Gln) rs758206000 0.00002
NM_000540.3(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063 0.00002
NM_000540.3(RYR1):c.4678G>A (p.Val1560Ile) rs767230160 0.00002
NM_000540.3(RYR1):c.4924G>A (p.Glu1642Lys) rs1041070277 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.619C>T (p.Arg207Cys) rs748140394 0.00002
NM_000540.3(RYR1):c.6274C>T (p.Arg2092Trp) rs772164452 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6469G>A (p.Glu2157Lys) rs554066182 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His) rs768343466 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7631C>G (p.Thr2544Ser) rs146326299 0.00002
NM_000540.3(RYR1):c.7778G>A (p.Arg2593His) rs751180702 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.7897C>G (p.Leu2633Val) rs757228479 0.00002
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn) rs765571437 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.8921T>C (p.Ile2974Thr) rs1020896447 0.00002
NM_000540.3(RYR1):c.907G>A (p.Ala303Thr) rs141764906 0.00002
NM_000540.3(RYR1):c.9122+8G>A rs772116480 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00002
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) rs753402698 0.00002
NM_001025389.2(AMPD3):c.1258A>G (p.Met420Val) rs184691110 0.00002
NM_001025389.2(AMPD3):c.1452G>A (p.Lys484=) rs371018918 0.00002
NM_001025389.2(AMPD3):c.2118C>T (p.Leu706=) rs1394943119 0.00002
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001042631.3(SDHAF1):c.46C>T (p.Arg16Cys) rs777257006 0.00002
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln) rs757795544 0.00002
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) rs766934634 0.00002
NM_001100.4(ACTA1):c.808+6C>A rs200342114 0.00002
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_001101362.3(KBTBD13):c.*1421C>T rs374389911 0.00002
NM_001101362.3(KBTBD13):c.101G>A (p.Gly34Asp) rs544519051 0.00002
NM_001101362.3(KBTBD13):c.11G>A (p.Gly4Asp) rs1228459718 0.00002
NM_001101362.3(KBTBD13):c.1337G>C (p.Gly446Ala) rs976528181 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001101362.3(KBTBD13):c.412G>A (p.Ala138Thr) rs1338140080 0.00002
NM_001101362.3(KBTBD13):c.434C>G (p.Ala145Gly) rs1205418680 0.00002
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001101362.3(KBTBD13):c.79G>A (p.Glu27Lys) rs760809346 0.00002
NM_001101362.3(KBTBD13):c.874C>T (p.Pro292Ser) rs765686080 0.00002
NM_001101362.3(KBTBD13):c.985G>C (p.Ala329Pro) rs1158844505 0.00002
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser) rs769980647 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001151.4(SLC25A4):c.*655G>C rs951763559 0.00002
NM_001151.4(SLC25A4):c.331C>A (p.Arg111Ser) rs375543860 0.00002
NM_001151.4(SLC25A4):c.755C>T (p.Thr252Met) rs753197100 0.00002
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) rs1230410861 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001164507.2(NEB):c.21346G>A (p.Asp7116Asn) rs372827767 0.00002
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.10082C>T (p.Thr3361Met) rs745706462 0.00002
NM_001164508.2(NEB):c.10282T>C (p.Phe3428Leu) rs766193154 0.00002
NM_001164508.2(NEB):c.10452+5G>A rs370685957 0.00002
NM_001164508.2(NEB):c.10471A>G (p.Met3491Val) rs761174573 0.00002
NM_001164508.2(NEB):c.10544G>A (p.Arg3515Gln) rs748799656 0.00002
NM_001164508.2(NEB):c.11091A>C (p.Glu3697Asp) rs1470685965 0.00002
NM_001164508.2(NEB):c.11225A>G (p.Tyr3742Cys) rs752598891 0.00002
NM_001164508.2(NEB):c.11413A>G (p.Lys3805Glu) rs972557338 0.00002
NM_001164508.2(NEB):c.11457G>A (p.Val3819=) rs780152095 0.00002
NM_001164508.2(NEB):c.11575C>T (p.Arg3859Trp) rs562669490 0.00002
NM_001164508.2(NEB):c.11716C>T (p.Arg3906Cys) rs759419548 0.00002
NM_001164508.2(NEB):c.1213C>A (p.Pro405Thr) rs1008850251 0.00002
NM_001164508.2(NEB):c.12143A>G (p.Lys4048Arg) rs1284970605 0.00002
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=) rs371771414 0.00002
NM_001164508.2(NEB):c.12278C>T (p.Pro4093Leu) rs749270501 0.00002
NM_001164508.2(NEB):c.12280G>C (p.Asp4094His) rs748607410 0.00002
NM_001164508.2(NEB):c.12330+4C>T rs772068098 0.00002
NM_001164508.2(NEB):c.12947G>A (p.Cys4316Tyr) rs1192654922 0.00002
NM_001164508.2(NEB):c.12961A>G (p.Ser4321Gly) rs1447644538 0.00002
NM_001164508.2(NEB):c.12976C>T (p.Arg4326Cys) rs1270122330 0.00002
NM_001164508.2(NEB):c.13018G>A (p.Asp4340Asn) rs1462818722 0.00002
NM_001164508.2(NEB):c.1504T>C (p.Phe502Leu) rs759653954 0.00002
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys) rs762876022 0.00002
NM_001164508.2(NEB):c.16828G>T (p.Val5610Leu) rs759755890 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.17185G>A (p.Asp5729Asn) rs374867405 0.00002
NM_001164508.2(NEB):c.17200T>C (p.Trp5734Arg) rs369065324 0.00002
NM_001164508.2(NEB):c.17369C>T (p.Thr5790Ile) rs752014573 0.00002
NM_001164508.2(NEB):c.17380G>A (p.Asp5794Asn) rs765593110 0.00002
NM_001164508.2(NEB):c.17389G>A (p.Asp5797Asn) rs375143141 0.00002
NM_001164508.2(NEB):c.17401G>A (p.Ala5801Thr) rs1204919597 0.00002
NM_001164508.2(NEB):c.17938G>A (p.Ala5980Thr) rs1267739726 0.00002
NM_001164508.2(NEB):c.18052C>T (p.Leu6018Phe) rs1223624917 0.00002
NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) rs533393007 0.00002
NM_001164508.2(NEB):c.18255G>A (p.Met6085Ile) rs553375465 0.00002
NM_001164508.2(NEB):c.1829G>A (p.Gly610Glu) rs139125293 0.00002
NM_001164508.2(NEB):c.18366+9G>A rs759834773 0.00002
NM_001164508.2(NEB):c.18693+9_18693+10del rs756671954 0.00002
NM_001164508.2(NEB):c.1872G>T (p.Leu624Phe) rs775430225 0.00002
NM_001164508.2(NEB):c.18830C>T (p.Thr6277Met) rs371689870 0.00002
NM_001164508.2(NEB):c.19121A>G (p.Tyr6374Cys) rs1177490619 0.00002
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln) rs375182306 0.00002
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu) rs369054525 0.00002
NM_001164508.2(NEB):c.19543C>T (p.Arg6515Cys) rs765363585 0.00002
NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) rs757278862 0.00002
NM_001164508.2(NEB):c.1954A>G (p.Thr652Ala) rs752227497 0.00002
NM_001164508.2(NEB):c.19621A>C (p.Ser6541Arg) rs779842159 0.00002
NM_001164508.2(NEB):c.19861C>T (p.His6621Tyr) rs1559832482 0.00002
NM_001164508.2(NEB):c.19913G>A (p.Arg6638Gln) rs375307136 0.00002
NM_001164508.2(NEB):c.19978A>G (p.Thr6660Ala) rs1027633106 0.00002
NM_001164508.2(NEB):c.20099T>C (p.Leu6700Pro) rs560109089 0.00002
NM_001164508.2(NEB):c.20144A>G (p.Asn6715Ser) rs536934629 0.00002
NM_001164508.2(NEB):c.20262+3G>A rs763862179 0.00002
NM_001164508.2(NEB):c.20728G>A (p.Ala6910Thr) rs750152377 0.00002
NM_001164508.2(NEB):c.21689C>T (p.Ala7230Val) rs368315910 0.00002
NM_001164508.2(NEB):c.21916G>A (p.Ala7306Thr) rs1289511955 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23198C>T (p.Pro7733Leu) rs372387518 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.2490G>A (p.Leu830=) rs1259136731 0.00002
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln) rs886054926 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164508.2(NEB):c.2521G>A (p.Asp841Asn) rs377599060 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys) rs542706227 0.00002
NM_001164508.2(NEB):c.2638C>T (p.Arg880Cys) rs371027084 0.00002
NM_001164508.2(NEB):c.2940T>C (p.Asn980=) rs1472489170 0.00002
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101 0.00002
NM_001164508.2(NEB):c.3203C>T (p.Thr1068Ile) rs769233880 0.00002
NM_001164508.2(NEB):c.3239G>A (p.Arg1080Lys) rs1377050628 0.00002
NM_001164508.2(NEB):c.3245C>T (p.Ala1082Val) rs752809792 0.00002
NM_001164508.2(NEB):c.3370C>T (p.Arg1124Trp) rs758590520 0.00002
NM_001164508.2(NEB):c.3491C>A (p.Ser1164Tyr) rs944276562 0.00002
NM_001164508.2(NEB):c.3497A>T (p.His1166Leu) rs765273968 0.00002
NM_001164508.2(NEB):c.3634G>A (p.Asp1212Asn) rs779673816 0.00002
NM_001164508.2(NEB):c.3759G>A (p.Thr1253=) rs763075598 0.00002
NM_001164508.2(NEB):c.4105G>A (p.Glu1369Lys) rs779213215 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001164508.2(NEB):c.4343G>C (p.Gly1448Ala) rs756000690 0.00002
NM_001164508.2(NEB):c.4376A>T (p.Lys1459Met) rs975412307 0.00002
NM_001164508.2(NEB):c.4392C>T (p.Gly1464=) rs771527086 0.00002
NM_001164508.2(NEB):c.4528G>A (p.Glu1510Lys) rs370064863 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.4883C>A (p.Pro1628His) rs771495234 0.00002
NM_001164508.2(NEB):c.5177C>T (p.Thr1726Ile) rs552140238 0.00002
NM_001164508.2(NEB):c.5656G>A (p.Glu1886Lys) rs746761562 0.00002
NM_001164508.2(NEB):c.5882G>A (p.Arg1961His) rs767185795 0.00002
NM_001164508.2(NEB):c.6145A>G (p.Ile2049Val) rs755853362 0.00002
NM_001164508.2(NEB):c.6225G>T (p.Met2075Ile) rs760968740 0.00002
NM_001164508.2(NEB):c.6392A>T (p.Asn2131Ile) rs781202038 0.00002
NM_001164508.2(NEB):c.6658A>G (p.Met2220Val) rs200481156 0.00002
NM_001164508.2(NEB):c.674C>T (p.Pro225Leu) rs770322824 0.00002
NM_001164508.2(NEB):c.6893C>T (p.Ala2298Val) rs1280388530 0.00002
NM_001164508.2(NEB):c.6967C>T (p.Arg2323Trp) rs1204576083 0.00002
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=) rs1023030953 0.00002
NM_001164508.2(NEB):c.734G>T (p.Gly245Val) rs765569689 0.00002
NM_001164508.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958 0.00002
NM_001164508.2(NEB):c.7860C>T (p.Ser2620=) rs753267809 0.00002
NM_001164508.2(NEB):c.8224G>C (p.Glu2742Gln) rs772837483 0.00002
NM_001164508.2(NEB):c.8319G>T (p.Arg2773=) rs746644593 0.00002
NM_001164508.2(NEB):c.8594T>C (p.Val2865Ala) rs754454398 0.00002
NM_001164508.2(NEB):c.8690T>C (p.Met2897Thr) rs747466015 0.00002
NM_001164508.2(NEB):c.8968A>G (p.Arg2990Gly) rs765940770 0.00002
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr) rs779603526 0.00002
NM_001164508.2(NEB):c.9853C>T (p.Arg3285Cys) rs370572955 0.00002
NM_001164508.2(NEB):c.9875T>C (p.Ile3292Thr) rs186634689 0.00002
NM_001164508.2(NEB):c.992C>G (p.Pro331Arg) rs763822076 0.00002
NM_001164508.2(NEB):c.9939G>C (p.Gln3313His) rs767908602 0.00002
NM_001164508.2(NEB):c.994G>A (p.Glu332Lys) rs748518353 0.00002
NM_001256545.2(MEGF10):c.*1901C>T rs1188462262 0.00002
NM_001256545.2(MEGF10):c.*1953G>C rs750967805 0.00002
NM_001256545.2(MEGF10):c.*1983T>C rs1034430879 0.00002
NM_001256545.2(MEGF10):c.*2106T>C rs886059872 0.00002
NM_001256545.2(MEGF10):c.1058G>A (p.Arg353His) rs146940427 0.00002
NM_001256545.2(MEGF10):c.1380T>G (p.Asn460Lys) rs748227745 0.00002
NM_001256545.2(MEGF10):c.1426+5G>T rs148197499 0.00002
NM_001256545.2(MEGF10):c.1544C>T (p.Thr515Met) rs777758032 0.00002
NM_001256545.2(MEGF10):c.1597A>G (p.Thr533Ala) rs954749214 0.00002
NM_001256545.2(MEGF10):c.1661C>T (p.Thr554Met) rs553024715 0.00002
NM_001256545.2(MEGF10):c.1880C>T (p.Thr627Ile) rs778901566 0.00002
NM_001256545.2(MEGF10):c.218+5T>C rs373947797 0.00002
NM_001256545.2(MEGF10):c.2218C>T (p.Leu740Phe) rs772955622 0.00002
NM_001256545.2(MEGF10):c.2500A>T (p.Ile834Phe) rs1300616206 0.00002
NM_001256545.2(MEGF10):c.2587A>G (p.Ile863Val) rs148862988 0.00002
NM_001256545.2(MEGF10):c.2795C>T (p.Thr932Met) rs775983100 0.00002
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=) rs770936974 0.00002
NM_001256545.2(MEGF10):c.3179C>T (p.Pro1060Leu) rs747619139 0.00002
NM_001256545.2(MEGF10):c.413-7A>G rs367785030 0.00002
NM_001256545.2(MEGF10):c.418G>A (p.Asp140Asn) rs750650046 0.00002
NM_001256545.2(MEGF10):c.524G>A (p.Gly175Asp) rs764487174 0.00002
NM_001256545.2(MEGF10):c.571T>C (p.Cys191Arg) rs755877624 0.00002
NM_001256545.2(MEGF10):c.745G>A (p.Val249Ile) rs370717384 0.00002
NM_001256545.2(MEGF10):c.814C>A (p.Arg272Ser) rs748380473 0.00002
NM_001256545.2(MEGF10):c.917+6G>T rs746095070 0.00002
NM_001256545.2(MEGF10):c.952G>A (p.Val318Ile) rs959864264 0.00002
NM_001267550.2(TTN):c.*919G>C rs752604042 0.00002
NM_001267550.2(TTN):c.10000G>A (p.Val3334Met) rs886055299 0.00002
NM_001267550.2(TTN):c.100018C>A (p.Gln33340Lys) rs558954116 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679 0.00002
NM_001267550.2(TTN):c.100449A>C (p.Glu33483Asp) rs762690616 0.00002
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) rs878854282 0.00002
NM_001267550.2(TTN):c.100876G>A (p.Val33626Met) rs1222398324 0.00002
NM_001267550.2(TTN):c.100972G>A (p.Gly33658Arg) rs780484535 0.00002
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu) rs368894429 0.00002
NM_001267550.2(TTN):c.101237G>A (p.Arg33746His) rs372584865 0.00002
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln) rs774790424 0.00002
NM_001267550.2(TTN):c.101327C>T (p.Pro33776Leu) rs536357517 0.00002
NM_001267550.2(TTN):c.101345C>T (p.Thr33782Ile) rs771566432 0.00002
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val) rs565546848 0.00002
NM_001267550.2(TTN):c.101599C>G (p.Leu33867Val) rs76194811 0.00002
NM_001267550.2(TTN):c.10164G>T (p.Arg3388=) rs542799064 0.00002
NM_001267550.2(TTN):c.101749G>A (p.Val33917Ile) rs768379988 0.00002
NM_001267550.2(TTN):c.101853A>C (p.Arg33951Ser) rs761821275 0.00002
NM_001267550.2(TTN):c.101941T>C (p.Tyr33981His) rs781686886 0.00002
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg) rs1296387134 0.00002
NM_001267550.2(TTN):c.102155G>A (p.Arg34052Gln) rs369245991 0.00002
NM_001267550.2(TTN):c.102181C>T (p.Arg34061Cys) rs879220772 0.00002
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu) rs1467698015 0.00002
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro) rs1437743604 0.00002
NM_001267550.2(TTN):c.102308A>T (p.Asn34103Ile) rs557630306 0.00002
NM_001267550.2(TTN):c.102433G>A (p.Ala34145Thr) rs542891030 0.00002
NM_001267550.2(TTN):c.102682G>C (p.Gly34228Arg) rs555664963 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.103471G>A (p.Glu34491Lys) rs556218739 0.00002
NM_001267550.2(TTN):c.103484T>C (p.Leu34495Pro) rs373479287 0.00002
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00002
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His) rs561869617 0.00002
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp) rs962181882 0.00002
NM_001267550.2(TTN):c.104281C>T (p.Arg34761Trp) rs879071113 0.00002
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly) rs766674127 0.00002
NM_001267550.2(TTN):c.104425G>C (p.Val34809Leu) rs754384143 0.00002
NM_001267550.2(TTN):c.104518C>T (p.Arg34840Trp) rs546085542 0.00002
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His) rs368063908 0.00002
NM_001267550.2(TTN):c.104654G>A (p.Arg34885Gln) rs368870767 0.00002
NM_001267550.2(TTN):c.104822C>A (p.Ala34941Asp) rs1445357252 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.104953A>G (p.Ser34985Gly) rs765030518 0.00002
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe) rs772718460 0.00002
NM_001267550.2(TTN):c.105212C>G (p.Ser35071Cys) rs3813249 0.00002
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu) rs747940468 0.00002
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys) rs779952686 0.00002
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln) rs56365812 0.00002
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441 0.00002
NM_001267550.2(TTN):c.105916G>A (p.Val35306Met) rs1434315858 0.00002
NM_001267550.2(TTN):c.106061A>G (p.Gln35354Arg) rs546343124 0.00002
NM_001267550.2(TTN):c.106286C>A (p.Thr35429Lys) rs1241466221 0.00002
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651 0.00002
NM_001267550.2(TTN):c.106736C>T (p.Ser35579Leu) rs727504462 0.00002
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu) rs753984036 0.00002
NM_001267550.2(TTN):c.107104C>G (p.Pro35702Ala) rs551126367 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His) rs770904787 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.107773A>G (p.Thr35925Ala) rs781497669 0.00002
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe) rs950902715 0.00002
NM_001267550.2(TTN):c.10825G>A (p.Glu3609Lys) rs1016683077 0.00002
NM_001267550.2(TTN):c.10840G>T (p.Glu3614Ter) rs540059730 0.00002
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser) rs765523683 0.00002
NM_001267550.2(TTN):c.1208G>C (p.Ser403Thr) rs727505091 0.00002
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys) rs397517830 0.00002
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978 0.00002
NM_001267550.2(TTN):c.13320G>A (p.Met4440Ile) rs768996215 0.00002
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala) rs758920941 0.00002
NM_001267550.2(TTN):c.14296G>A (p.Asp4766Asn) rs981499527 0.00002
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val) rs763092484 0.00002
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr) rs752150323 0.00002
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly) rs369989679 0.00002
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys) rs530572005 0.00002
NM_001267550.2(TTN):c.15125C>T (p.Thr5042Met) rs1060500462 0.00002
NM_001267550.2(TTN):c.15775+15A>C rs776801864 0.00002
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp) rs371044267 0.00002
NM_001267550.2(TTN):c.16028C>T (p.Ser5343Phe) rs369132752 0.00002
NM_001267550.2(TTN):c.16136A>C (p.Lys5379Thr) rs752346935 0.00002
NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val) rs879144126 0.00002
NM_001267550.2(TTN):c.16391G>C (p.Gly5464Ala) rs377023302 0.00002
NM_001267550.2(TTN):c.16868G>T (p.Gly5623Val) rs768364912 0.00002
NM_001267550.2(TTN):c.1694C>T (p.Ser565Phe) rs762175397 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser) rs375003845 0.00002
NM_001267550.2(TTN):c.18427G>A (p.Gly6143Arg) rs757453585 0.00002
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353 0.00002
NM_001267550.2(TTN):c.18589+5G>A rs763752372 0.00002
NM_001267550.2(TTN):c.18959C>A (p.Pro6320His) rs886246785 0.00002
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu) rs1060500450 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.20096T>A (p.Val6699Asp) rs907862282 0.00002
NM_001267550.2(TTN):c.20156T>C (p.Ile6719Thr) rs770377168 0.00002
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) rs180694107 0.00002
NM_001267550.2(TTN):c.205G>A (p.Ala69Thr) rs1370693255 0.00002
NM_001267550.2(TTN):c.20680G>C (p.Val6894Leu) rs774362265 0.00002
NM_001267550.2(TTN):c.21612T>G (p.Ser7204Arg) rs780624577 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys) rs774950387 0.00002
NM_001267550.2(TTN):c.22432A>G (p.Ile7478Val) rs1191020503 0.00002
NM_001267550.2(TTN):c.22628C>T (p.Pro7543Leu) rs560272834 0.00002
NM_001267550.2(TTN):c.22689C>G (p.Ile7563Met) rs1060500529 0.00002
NM_001267550.2(TTN):c.22931G>A (p.Arg7644Gln) rs766675017 0.00002
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp) rs184123332 0.00002
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr) rs979110143 0.00002
NM_001267550.2(TTN):c.23391C>T (p.Phe7797=) rs754815317 0.00002
NM_001267550.2(TTN):c.23770A>C (p.Lys7924Gln) rs770650362 0.00002
NM_001267550.2(TTN):c.24039G>A (p.Pro8013=) rs768390615 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.24115G>A (p.Val8039Ile) rs759655046 0.00002
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile) rs369521909 0.00002
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn) rs397517511 0.00002
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298 0.00002
NM_001267550.2(TTN):c.25510A>C (p.Met8504Leu) rs761929830 0.00002
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr) rs727503646 0.00002
NM_001267550.2(TTN):c.26579G>A (p.Ser8860Asn) rs1240256366 0.00002
NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn) rs759686739 0.00002
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly) rs536974988 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27426G>A (p.Ser9142=) rs368081453 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr) rs746470885 0.00002
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe) rs748483786 0.00002
NM_001267550.2(TTN):c.28175-10C>T rs748478445 0.00002
NM_001267550.2(TTN):c.28185C>G (p.Asn9395Lys) rs778573156 0.00002
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val) rs770782767 0.00002
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile) rs537805395 0.00002
NM_001267550.2(TTN):c.28754-11T>C rs146738622 0.00002
NM_001267550.2(TTN):c.29066C>G (p.Thr9689Ser) rs777878480 0.00002
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr) rs781737736 0.00002
NM_001267550.2(TTN):c.2996G>A (p.Arg999His) rs371757623 0.00002
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His) rs759347532 0.00002
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr) rs1219872673 0.00002
NM_001267550.2(TTN):c.32021T>C (p.Leu10674Pro) rs762662455 0.00002
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.32542C>T (p.Pro10848Ser) rs368286625 0.00002
NM_001267550.2(TTN):c.32826del (p.Val10943fs) rs1440823660 0.00002
NM_001267550.2(TTN):c.33052C>T (p.Arg11018Trp) rs372118864 0.00002
NM_001267550.2(TTN):c.33126C>T (p.Val11042=) rs72650036 0.00002
NM_001267550.2(TTN):c.33164C>T (p.Pro11055Leu) rs193051231 0.00002
NM_001267550.2(TTN):c.3380+12G>T rs775071824 0.00002
NM_001267550.2(TTN):c.34006C>T (p.Arg11336Cys) rs763380355 0.00002
NM_001267550.2(TTN):c.343G>A (p.Val115Met) rs564777385 0.00002
NM_001267550.2(TTN):c.34537+3A>G rs1427570685 0.00002
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr) rs368157806 0.00002
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val) rs375391365 0.00002
NM_001267550.2(TTN):c.35082C>T (p.Gly11694=) rs377761863 0.00002
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr) rs1393138345 0.00002
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His) rs756874306 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_001267550.2(TTN):c.35797G>C (p.Glu11933Gln) rs769110483 0.00002
NM_001267550.2(TTN):c.36043+4C>T rs370368656 0.00002
NM_001267550.2(TTN):c.36043+5G>A rs561444783 0.00002
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu) rs768872042 0.00002
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu) rs371317962 0.00002
NM_001267550.2(TTN):c.36499C>T (p.Pro12167Ser) rs780323492 0.00002
NM_001267550.2(TTN):c.36520C>A (p.Pro12174Thr) rs762482452 0.00002
NM_001267550.2(TTN):c.37543+1G>A rs1374931889 0.00002
NM_001267550.2(TTN):c.38275C>G (p.Pro12759Ala) rs1162101042 0.00002
NM_001267550.2(TTN):c.39064G>A (p.Val13022Ile) rs767090806 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.39127G>A (p.Val13043Met) rs560962534 0.00002
NM_001267550.2(TTN):c.39469G>A (p.Glu13157Lys) rs761974767 0.00002
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) rs202240398 0.00002
NM_001267550.2(TTN):c.39802G>T (p.Val13268Phe) rs759268958 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr) rs373988162 0.00002
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys) rs759050071 0.00002
NM_001267550.2(TTN):c.42304G>A (p.Ala14102Thr) rs72650080 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val) rs754227553 0.00002
NM_001267550.2(TTN):c.4337C>A (p.Thr1446Lys) rs879232192 0.00002
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) rs377015571 0.00002
NM_001267550.2(TTN):c.44222C>T (p.Thr14741Met) rs778576436 0.00002
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr) rs772053966 0.00002
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys) rs140795503 0.00002
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr) rs377564388 0.00002
NM_001267550.2(TTN):c.4639G>A (p.Val1547Met) rs750678272 0.00002
NM_001267550.2(TTN):c.46580T>A (p.Met15527Lys) rs77496539 0.00002
NM_001267550.2(TTN):c.46631G>A (p.Arg15544His) rs772760901 0.00002
NM_001267550.2(TTN):c.47938A>G (p.Ile15980Val) rs780634456 0.00002
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys) rs765032242 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile) rs367769671 0.00002
NM_001267550.2(TTN):c.48983C>T (p.Thr16328Ile) rs770839243 0.00002
NM_001267550.2(TTN):c.50084G>A (p.Arg16695Gln) rs794729451 0.00002
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp) rs369623681 0.00002
NM_001267550.2(TTN):c.50399A>C (p.Lys16800Thr) rs959185764 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.50648C>A (p.Pro16883His) rs758756600 0.00002
NM_001267550.2(TTN):c.51079A>T (p.Ile17027Phe) rs770809063 0.00002
NM_001267550.2(TTN):c.51337C>T (p.Pro17113Ser) rs768641489 0.00002
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln) rs775700218 0.00002
NM_001267550.2(TTN):c.52142T>C (p.Ile17381Thr) rs775637498 0.00002
NM_001267550.2(TTN):c.52373T>C (p.Val17458Ala) rs760430370 0.00002
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys) rs375966756 0.00002
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) rs536494011 0.00002
NM_001267550.2(TTN):c.53180C>G (p.Ser17727Cys) rs369262757 0.00002
NM_001267550.2(TTN):c.53769G>A (p.Leu17923=) rs1439566303 0.00002
NM_001267550.2(TTN):c.53881+3G>A rs1160974431 0.00002
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356 0.00002
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His) rs760383112 0.00002
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser) rs777505893 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.55058A>G (p.Asn18353Ser) rs747601378 0.00002
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro) rs1044328956 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.56051G>A (p.Cys18684Tyr) rs1025426023 0.00002
NM_001267550.2(TTN):c.56314A>G (p.Thr18772Ala) rs964263107 0.00002
NM_001267550.2(TTN):c.56557C>T (p.His18853Tyr) rs397517623 0.00002
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=) rs376310289 0.00002
NM_001267550.2(TTN):c.58342A>G (p.Lys19448Glu) rs900082928 0.00002
NM_001267550.2(TTN):c.58876G>A (p.Ala19626Thr) rs371278320 0.00002
NM_001267550.2(TTN):c.58882G>A (p.Val19628Ile) rs772550095 0.00002
NM_001267550.2(TTN):c.5889A>C (p.Lys1963Asn) rs897521028 0.00002
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu) rs769129424 0.00002
NM_001267550.2(TTN):c.59247C>T (p.Asp19749=) rs587780491 0.00002
NM_001267550.2(TTN):c.59534G>A (p.Arg19845His) rs201457934 0.00002
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys) rs751863629 0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn) rs148353350 0.00002
NM_001267550.2(TTN):c.60097T>G (p.Leu20033Val) rs878993043 0.00002
NM_001267550.2(TTN):c.60242A>G (p.Asp20081Gly) rs369680191 0.00002
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr) rs752768925 0.00002
NM_001267550.2(TTN):c.60815C>T (p.Pro20272Leu) rs760277470 0.00002
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met) rs761374262 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn) rs878925775 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu) rs767322897 0.00002
NM_001267550.2(TTN):c.63521T>C (p.Ile21174Thr) rs1319446307 0.00002
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile) rs1031526299 0.00002
NM_001267550.2(TTN):c.64111A>G (p.Arg21371Gly) rs748901968 0.00002
NM_001267550.2(TTN):c.6414A>G (p.Ile2138Met) rs368391123 0.00002
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly) rs375659466 0.00002
NM_001267550.2(TTN):c.64475G>A (p.Gly21492Glu) rs879135883 0.00002
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) rs72646860 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His) rs751046367 0.00002
NM_001267550.2(TTN):c.6491C>T (p.Ala2164Val) rs1338410239 0.00002
NM_001267550.2(TTN):c.6508+15T>C rs747722195 0.00002
NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr) rs752176305 0.00002
NM_001267550.2(TTN):c.65715A>C (p.Lys21905Asn) rs574615636 0.00002
NM_001267550.2(TTN):c.66544T>G (p.Tyr22182Asp) rs878854327 0.00002
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060 0.00002
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr) rs768380109 0.00002
NM_001267550.2(TTN):c.66958C>T (p.Arg22320Cys) rs772361876 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp) rs776797528 0.00002
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val) rs72647881 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.68450G>A (p.Arg22817Gln) rs372496072 0.00002
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met) rs764263517 0.00002
NM_001267550.2(TTN):c.68848C>A (p.Pro22950Thr) rs770007899 0.00002
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg) rs145585333 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.7057+1G>A rs763909866 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys) rs760487688 0.00002
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His) rs1051495269 0.00002
NM_001267550.2(TTN):c.73759T>C (p.Cys24587Arg) rs776113871 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.74564C>T (p.Thr24855Ile) rs759432194 0.00002
NM_001267550.2(TTN):c.75011G>A (p.Arg25004His) rs909041164 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.75554A>C (p.Lys25185Thr) rs371042435 0.00002
NM_001267550.2(TTN):c.75620C>G (p.Pro25207Arg) rs72646900 0.00002
NM_001267550.2(TTN):c.75746G>A (p.Arg25249His) rs773286477 0.00002
NM_001267550.2(TTN):c.75977A>G (p.Glu25326Gly) rs767430531 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.7634C>T (p.Thr2545Ile) rs1016165797 0.00002
NM_001267550.2(TTN):c.76627A>G (p.Lys25543Glu) rs372016541 0.00002
NM_001267550.2(TTN):c.76967A>G (p.His25656Arg) rs755172663 0.00002
NM_001267550.2(TTN):c.77902G>A (p.Glu25968Lys) rs756933390 0.00002
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys) rs370515843 0.00002
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu) rs912454417 0.00002
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) rs371325635 0.00002
NM_001267550.2(TTN):c.79105G>A (p.Val26369Ile) rs778729064 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr) rs749600987 0.00002
NM_001267550.2(TTN):c.79744A>C (p.Lys26582Gln) rs775918922 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys) rs748215561 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.82022G>A (p.Arg27341Gln) rs555414240 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln) rs765230578 0.00002
NM_001267550.2(TTN):c.82814A>G (p.Tyr27605Cys) rs753352392 0.00002
NM_001267550.2(TTN):c.83011G>C (p.Glu27671Gln) rs949881130 0.00002
NM_001267550.2(TTN):c.83324T>C (p.Ile27775Thr) rs769577217 0.00002
NM_001267550.2(TTN):c.83519T>C (p.Val27840Ala) rs752446232 0.00002
NM_001267550.2(TTN):c.83779A>C (p.Thr27927Pro) rs1164046049 0.00002
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) rs756176112 0.00002
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val) rs886042586 0.00002
NM_001267550.2(TTN):c.85301A>C (p.Asn28434Thr) rs758519100 0.00002
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) rs757653038 0.00002
NM_001267550.2(TTN):c.85420C>T (p.Arg28474Cys) rs757771061 0.00002
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala) rs369907507 0.00002
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) rs554841820 0.00002
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp) rs754025981 0.00002
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00002
NM_001267550.2(TTN):c.86676G>T (p.Trp28892Cys) rs779407441 0.00002
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys) rs757848764 0.00002
NM_001267550.2(TTN):c.87650G>A (p.Arg29217His) rs749606240 0.00002
NM_001267550.2(TTN):c.87940G>A (p.Ala29314Thr) rs923029692 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp) rs781330566 0.00002
NM_001267550.2(TTN):c.88826G>A (p.Arg29609Gln) rs758876816 0.00002
NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu) rs764695663 0.00002
NM_001267550.2(TTN):c.88955T>C (p.Val29652Ala) rs748609330 0.00002
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser) rs773875566 0.00002
NM_001267550.2(TTN):c.8905A>G (p.Ile2969Val) rs764394936 0.00002
NM_001267550.2(TTN):c.89410G>A (p.Val29804Ile) rs747784568 0.00002
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) rs748326514 0.00002
NM_001267550.2(TTN):c.8991C>A (p.Ile2997=) rs757524187 0.00002
NM_001267550.2(TTN):c.89965A>G (p.Ser29989Gly) rs1225946550 0.00002
NM_001267550.2(TTN):c.90412G>A (p.Gly30138Arg) rs1225356759 0.00002
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591 0.00002
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp) rs773600127 0.00002
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His) rs374474227 0.00002
NM_001267550.2(TTN):c.91642G>C (p.Ala30548Pro) rs369043548 0.00002
NM_001267550.2(TTN):c.91736T>C (p.Leu30579Pro) rs765022890 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.92454C>T (p.Pro30818=) rs771773845 0.00002
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp) rs727505280 0.00002
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986 0.00002
NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn) rs886042408 0.00002
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) rs201377736 0.00002
NM_001267550.2(TTN):c.93737A>G (p.Lys31246Arg) rs775611779 0.00002
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met) rs140081451 0.00002
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr) rs141357723 0.00002
NM_001267550.2(TTN):c.95312G>A (p.Arg31771Lys) rs397517760 0.00002
NM_001267550.2(TTN):c.95330A>C (p.Glu31777Ala) rs955172279 0.00002
NM_001267550.2(TTN):c.95344G>A (p.Val31782Met) rs377076423 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.95434G>A (p.Gly31812Ser) rs754416007 0.00002
NM_001267550.2(TTN):c.95743G>T (p.Ala31915Ser) rs1490243211 0.00002
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln) rs763270971 0.00002
NM_001267550.2(TTN):c.95953G>A (p.Val31985Ile) rs373484878 0.00002
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=) rs144101806 0.00002
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn) rs1385851793 0.00002
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.96718G>A (p.Glu32240Lys) rs374598326 0.00002
NM_001267550.2(TTN):c.97292C>T (p.Pro32431Leu) rs1060500426 0.00002
NM_001267550.2(TTN):c.97330C>T (p.Arg32444Cys) rs776164829 0.00002
NM_001267550.2(TTN):c.97537C>T (p.Arg32513Cys) rs1279110183 0.00002
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met) rs760676361 0.00002
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser) rs374521620 0.00002
NM_001267550.2(TTN):c.98119G>C (p.Asp32707His) rs1307768306 0.00002
NM_001267550.2(TTN):c.98464G>A (p.Asp32822Asn) rs921446344 0.00002
NM_001267550.2(TTN):c.98552G>A (p.Arg32851Gln) rs775915301 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001267550.2(TTN):c.99861A>G (p.Ile33287Met) rs758948672 0.00002
NM_001368067.1(LDB3):c.361C>T (p.Arg121Cys) rs750606592 0.00002
NM_001368067.1(LDB3):c.410C>T (p.Pro137Leu) rs938329394 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001368067.1(LDB3):c.788G>A (p.Arg263His) rs780518038 0.00002
NM_001377299.1(NDUFS2):c.441C>T (p.Asn147=) rs140324736 0.00002
NM_001378030.1(CCDC78):c.1059C>T (p.Gly353=) rs773310049 0.00002
NM_001378030.1(CCDC78):c.1196C>T (p.Thr399Ile) rs775067488 0.00002
NM_001378030.1(CCDC78):c.1278G>A (p.Glu426=) rs773837439 0.00002
NM_001378030.1(CCDC78):c.155C>T (p.Ala52Val) rs1432121366 0.00002
NM_001378030.1(CCDC78):c.29G>A (p.Arg10Lys) rs893873268 0.00002
NM_001378030.1(CCDC78):c.365C>T (p.Pro122Leu) rs745392382 0.00002
NM_001378030.1(CCDC78):c.535C>T (p.Arg179Trp) rs758399024 0.00002
NM_001378030.1(CCDC78):c.574C>T (p.Arg192Trp) rs754019798 0.00002
NM_001378030.1(CCDC78):c.593G>A (p.Arg198Gln) rs763959604 0.00002
NM_001378030.1(CCDC78):c.61-1G>A rs1006891646 0.00002
NM_001378030.1(CCDC78):c.613G>A (p.Gly205Arg) rs759028646 0.00002
NM_001378030.1(CCDC78):c.61G>A (p.Val21Ile) rs757617074 0.00002
NM_001378030.1(CCDC78):c.721G>A (p.Asp241Asn) rs370899425 0.00002
NM_001378030.1(CCDC78):c.842T>A (p.Ile281Asn) rs1037631909 0.00002
NM_001378030.1(CCDC78):c.857G>A (p.Arg286His) rs750889592 0.00002
NM_001378030.1(CCDC78):c.874del (p.Leu292fs) rs746756519 0.00002
NM_001378030.1(CCDC78):c.931G>T (p.Glu311Ter) rs2040614414 0.00002
NM_001382567.1(STIM1):c.1355C>G (p.Ala452Gly) rs114915823 0.00002
NM_001382567.1(STIM1):c.1393C>T (p.Arg465Cys) rs749694629 0.00002
NM_001382567.1(STIM1):c.1591C>T (p.Arg531Trp) rs772902514 0.00002
NM_001382567.1(STIM1):c.1603A>G (p.Thr535Ala) rs200528072 0.00002
NM_001382567.1(STIM1):c.1651G>A (p.Asp551Asn) rs199914458 0.00002
NM_001382567.1(STIM1):c.1674G>A (p.Met558Ile) rs146111967 0.00002
NM_001382567.1(STIM1):c.1676G>A (p.Ser559Asn) rs200078549 0.00002
NM_001382567.1(STIM1):c.1761C>G (p.Ser587Arg) rs201543900 0.00002
NM_001382567.1(STIM1):c.1772T>C (p.Ile591Thr) rs1036967931 0.00002
NM_001382567.1(STIM1):c.1894C>T (p.Pro632Ser) rs200960094 0.00002
NM_001382567.1(STIM1):c.196G>A (p.Glu66Lys) rs199799231 0.00002
NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) rs748277951 0.00002
NM_001382567.1(STIM1):c.853A>G (p.Lys285Glu) rs1474279628 0.00002
NM_001382567.1(STIM1):c.871A>G (p.Asn291Asp) rs201523207 0.00002
NM_001382567.1(STIM1):c.91G>C (p.Ala31Pro) rs368091975 0.00002
NM_001458.5(FLNC):c.1001G>A (p.Arg334His) rs779347920 0.00002
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val) rs777199447 0.00002
NM_001458.5(FLNC):c.1209G>A (p.Ala403=) rs746938160 0.00002
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys) rs374847180 0.00002
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln) rs764751276 0.00002
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly) rs1164296903 0.00002
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys) rs760911646 0.00002
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr) rs1480694554 0.00002
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser) rs1031265089 0.00002
NM_001458.5(FLNC):c.2389+5G>A rs901857994 0.00002
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys) rs373514748 0.00002
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr) rs749855792 0.00002
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met) rs1037999644 0.00002
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln) rs202039743 0.00002
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys) rs757969015 0.00002
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val) rs574118437 0.00002
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys) rs541775814 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val) rs762793681 0.00002
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu) rs377489161 0.00002
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) rs766439553 0.00002
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu) rs753260970 0.00002
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys) rs747033771 0.00002
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg) rs769586047 0.00002
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg) rs1202331272 0.00002
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val) rs767473791 0.00002
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly) rs760711912 0.00002
NM_001458.5(FLNC):c.44G>T (p.Gly15Val) rs766081127 0.00002
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp) rs369842920 0.00002
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr) rs768737324 0.00002
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln) rs755741955 0.00002
NM_001458.5(FLNC):c.479C>T (p.Thr160Met) rs1357772572 0.00002
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala) rs775405275 0.00002
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser) rs150986092 0.00002
NM_001458.5(FLNC):c.5668+4A>C rs1259876470 0.00002
NM_001458.5(FLNC):c.6004+6C>T rs761548420 0.00002
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala) rs765064363 0.00002
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His) rs764326184 0.00002
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro) rs745842738 0.00002
NM_001458.5(FLNC):c.6209-3C>G rs896971028 0.00002
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala) rs373022507 0.00002
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val) rs755736125 0.00002
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln) rs368662317 0.00002
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp) rs909093665 0.00002
NM_001458.5(FLNC):c.6727+3G>A rs771664894 0.00002
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys) rs750686083 0.00002
NM_001458.5(FLNC):c.7251+4T>G rs1389522053 0.00002
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln) rs201762568 0.00002
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) rs550547714 0.00002
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val) rs1809086035 0.00002
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn) rs766492460 0.00002
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His) rs1187923021 0.00002
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln) rs375213102 0.00002
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser) rs765967888 0.00002
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu) rs756144972 0.00002
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met) rs1269145751 0.00002
NM_001458.5(FLNC):c.874G>A (p.Val292Met) rs1275499234 0.00002
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) rs769193585 0.00002
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu) rs768371907 0.00002
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr) rs758774084 0.00002
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) rs773805932 0.00002
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg) rs761803826 0.00002
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe) rs374678549 0.00002
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) rs1056153404 0.00002
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg) rs538201110 0.00002
NM_001843.4(CNTN1):c.512G>A (p.Arg171His) rs201037986 0.00002
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu) rs763318952 0.00002
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe) rs1179596064 0.00002
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met) rs1404246917 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg) rs202109302 0.00002
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser) rs780264446 0.00002
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met) rs764765574 0.00002
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val) rs886044481 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) rs201093313 0.00002
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp) rs531146637 0.00002
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala) rs773528946 0.00002
NM_001849.4(COL6A2):c.1270-3C>T rs1488223613 0.00002
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu) rs1252515693 0.00002
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys) rs368878639 0.00002
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys) rs771658013 0.00002
NM_001849.4(COL6A2):c.1797G>C (p.Arg599Ser) rs370858447 0.00002
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg) rs757603350 0.00002
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro) rs990733473 0.00002
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp) rs752366811 0.00002
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) rs564873527 0.00002
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys) rs200709432 0.00002
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu) rs199736749 0.00002
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu) rs768417049 0.00002
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly) rs11554668 0.00002
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp) rs373184224 0.00002
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met) rs752700701 0.00002
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp) rs762263982 0.00002
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser) rs769456044 0.00002
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln) rs376291264 0.00002
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys) rs760263812 0.00002
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu) rs757488307 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1099A>C (p.Ile367Leu) rs62636494 0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) rs142712150 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.188C>A (p.Ala63Asp) rs1345937895 0.00002
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.199G>A (p.Gly67Arg) rs753419517 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 0.00002
NM_001927.4(DES):c.566G>A (p.Arg189Gln) rs1025323214 0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436 0.00002
NM_001927.4(DES):c.639G>A (p.Ala213=) rs377337947 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) rs932099850 0.00002
NM_001953.5(TYMP):c.594A>G (p.Leu198=) rs753241194 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_002465.4(MYBPC1):c.437G>A (p.Arg146Gln) rs778424803 0.00002
NM_002469.3(MYF6):c.281G>A (p.Arg94Gln) rs201273759 0.00002
NM_002469.3(MYF6):c.331G>C (p.Glu111Gln) rs773695133 0.00002
NM_002469.3(MYF6):c.623T>C (p.Ile208Thr) rs766941896 0.00002
NM_002488.5(NDUFA2):c.177C>T (p.Ser59=) rs200255683 0.00002
NM_002495.4(NDUFS4):c.107G>A (p.Arg36Lys) rs1022912416 0.00002
NM_002495.4(NDUFS4):c.350+6T>C rs3733833 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.2446C>G (p.Leu816Val) rs748262645 0.00002
NM_002693.3(POLG):c.2468G>A (p.Arg823His) rs751172552 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_002693.3(POLG):c.3077G>A (p.Arg1026His) rs777038915 0.00002
NM_002693.3(POLG):c.3532G>A (p.Ala1178Thr) rs770149949 0.00002
NM_002693.3(POLG):c.3560G>A (p.Arg1187Gln) rs199678775 0.00002
NM_003000.3(SDHB):c.400T>C (p.Tyr134His) rs771004483 0.00002
NM_003002.4(SDHD):c.116C>T (p.Pro39Leu) rs752689382 0.00002
NM_003002.4(SDHD):c.398C>A (p.Ala133Asp) rs755584530 0.00002
NM_003283.6(TNNT1):c.256T>G (p.Phe86Val) rs1222022158 0.00002
NM_003283.6(TNNT1):c.700G>A (p.Glu234Lys) rs1188124969 0.00002
NM_003283.6(TNNT1):c.73+15T>G rs759885491 0.00002
NM_003283.6(TNNT1):c.769C>T (p.Arg257Cys) rs774943217 0.00002
NM_003283.6(TNNT1):c.793C>T (p.Arg265Trp) rs765317516 0.00002
NM_003289.4(TPM2):c.*199C>T rs965743785 0.00002
NM_003289.4(TPM2):c.773-3C>A rs199476157 0.00002
NM_004168.4(SDHA):c.1135C>T (p.Arg379Cys) rs749309213 0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_004168.4(SDHA):c.1171G>A (p.Ala391Thr) rs376597185 0.00002
NM_004168.4(SDHA):c.1246A>G (p.Asn416Asp) rs1355851620 0.00002
NM_004168.4(SDHA):c.1357G>A (p.Gly453Arg) rs770028533 0.00002
NM_004168.4(SDHA):c.1423T>C (p.Cys475Arg) rs781747137 0.00002
NM_004168.4(SDHA):c.1493A>G (p.Lys498Arg) rs745592653 0.00002
NM_004168.4(SDHA):c.150+5G>T rs770610694 0.00002
NM_004168.4(SDHA):c.1518A>G (p.Ile506Met) rs955444699 0.00002
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1603G>T (p.Gly535Cys) rs777622021 0.00002
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met) rs181238392 0.00002
NM_004168.4(SDHA):c.1657G>A (p.Asp553Asn) rs769882609 0.00002
NM_004168.4(SDHA):c.1679C>T (p.Thr560Met) rs775350508 0.00002
NM_004168.4(SDHA):c.16G>A (p.Gly6Ser) rs1352756438 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004168.4(SDHA):c.1750G>A (p.Ala584Thr) rs878854629 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625 0.00002
NM_004168.4(SDHA):c.464A>G (p.Asn155Ser) rs749824479 0.00002
NM_004168.4(SDHA):c.476C>T (p.Pro159Leu) rs759827541 0.00002
NM_004168.4(SDHA):c.809A>T (p.His270Leu) rs1381228775 0.00002
NM_004168.4(SDHA):c.826G>A (p.Gly276Ser) rs751008647 0.00002
NM_004281.4(BAG3):c.-155C>G rs963964101 0.00002
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val) rs189646603 0.00002
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu) rs1215731985 0.00002
NM_004281.4(BAG3):c.1163A>G (p.Lys388Arg) rs1405607704 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe) rs771188059 0.00002
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser) rs760699965 0.00002
NM_004281.4(BAG3):c.1578G>T (p.Glu526Asp) rs777325497 0.00002
NM_004281.4(BAG3):c.1673C>T (p.Ala558Val) rs185537639 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe) rs143756613 0.00002
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg) rs754615028 0.00002
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys) rs1415830597 0.00002
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys) rs148544471 0.00002
NM_004281.4(BAG3):c.967A>G (p.Ser323Gly) rs765875627 0.00002
NM_004281.4(BAG3):c.983T>C (p.Val328Ala) rs765627299 0.00002
NM_004369.4(COL6A3):c.1069C>A (p.Pro357Thr) rs1174559820 0.00002
NM_004369.4(COL6A3):c.1897+3A>G rs369549597 0.00002
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln) rs762016120 0.00002
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met) rs747082651 0.00002
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe) rs750951694 0.00002
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=) rs770489225 0.00002
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu) rs746868834 0.00002
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile) rs749556880 0.00002
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His) rs982703428 0.00002
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr) rs1034783532 0.00002
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val) rs140513454 0.00002
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser) rs770876436 0.00002
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val) rs754618002 0.00002
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys) rs768330671 0.00002
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=) rs774374140 0.00002
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr) rs374476448 0.00002
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser) rs781675126 0.00002
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln) rs766968738 0.00002
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp) rs746420745 0.00002
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser) rs778720252 0.00002
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu) rs776496050 0.00002
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His) rs769656291 0.00002
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr) rs905662421 0.00002
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr) rs1223531902 0.00002
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val) rs373292353 0.00002
NM_004370.6(COL12A1):c.189G>A (p.Thr63=) rs371298920 0.00002
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn) rs759182254 0.00002
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu) rs771124556 0.00002
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu) rs377482121 0.00002
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser) rs932009209 0.00002
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg) rs752812483 0.00002
NM_004370.6(COL12A1):c.2984-2A>G rs760316411 0.00002
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn) rs768943327 0.00002
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu) rs886380438 0.00002
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His) rs191757914 0.00002
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly) rs1385334403 0.00002
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn) rs758640189 0.00002
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu) rs373002461 0.00002
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys) rs767343975 0.00002
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr) rs757943935 0.00002
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile) rs1244436929 0.00002
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser) rs750263276 0.00002
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr) rs993593939 0.00002
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser) rs758186176 0.00002
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln) rs1315131480 0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg) rs199633490 0.00002
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr) rs1228621705 0.00002
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg) rs781184043 0.00002
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile) rs371624564 0.00002
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg) rs199693016 0.00002
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr) rs780457606 0.00002
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe) rs1198783904 0.00002
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_004543.4(NEB):c.-195C>T rs773435967 0.00002
NM_004544.4(NDUFA10):c.*1665C>A rs1314058965 0.00002
NM_004544.4(NDUFA10):c.*2382C>A rs1289543938 0.00002
NM_004544.4(NDUFA10):c.*3113G>A rs886055812 0.00002
NM_004544.4(NDUFA10):c.1000-3C>G rs199648872 0.00002
NM_004544.4(NDUFA10):c.363G>A (p.Pro121=) rs749199433 0.00002
NM_004544.4(NDUFA10):c.925A>G (p.Ser309Gly) rs1222086753 0.00002
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_005006.7(NDUFS1):c.364G>A (p.Ala122Thr) rs886055502 0.00002
NM_005006.7(NDUFS1):c.476C>T (p.Ala159Val) rs764520533 0.00002
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) rs775173963 0.00002
NM_006063.3(KLHL41):c.1081G>C (p.Asp361His) rs150768955 0.00002
NM_006063.3(KLHL41):c.1306A>G (p.Lys436Glu) rs1185067965 0.00002
NM_006063.3(KLHL41):c.1392G>T (p.Arg464Ser) rs745775130 0.00002
NM_006063.3(KLHL41):c.1759T>C (p.Tyr587His) rs770685517 0.00002
NM_006063.3(KLHL41):c.443C>T (p.Pro148Leu) rs772160259 0.00002
NM_006063.3(KLHL41):c.614G>A (p.Arg205Gln) rs576773055 0.00002
NM_006063.3(KLHL41):c.757A>G (p.Lys253Glu) rs773708864 0.00002
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser) rs372307298 0.00002
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) rs781052225 0.00002
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr) rs779978043 0.00002
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) rs752723849 0.00002
NM_006790.3(MYOT):c.385A>G (p.Ile129Val) rs1191595067 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_006790.3(MYOT):c.762A>C (p.Gln254His) rs983379755 0.00002
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) rs764439615 0.00002
NM_007078.3(LDB3):c.1001C>A (p.Pro334Gln) rs776058652 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007078.3(LDB3):c.1321C>T (p.Pro441Ser) rs757728320 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn) rs150188572 0.00002
NM_007078.3(LDB3):c.1546C>T (p.Arg516Trp) rs773327911 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) rs374426474 0.00002
NM_007078.3(LDB3):c.1657C>A (p.His553Asn) rs1488010574 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1745C>G (p.Thr582Ser) rs754840310 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn) rs754529329 0.00002
NM_007078.3(LDB3):c.253C>T (p.Arg85Cys) rs780200228 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His) rs767986134 0.00002
NM_007078.3(LDB3):c.491C>T (p.Pro164Leu) rs761907380 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_007078.3(LDB3):c.608C>T (p.Ser203Leu) rs201538257 0.00002
NM_007078.3(LDB3):c.646A>T (p.Met216Leu) rs765199175 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.733G>A (p.Val245Ile) rs573061464 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007078.3(LDB3):c.897-6831C>T rs886047355 0.00002
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu) rs753686111 0.00002
NM_007103.4(NDUFV1):c.1355G>A (p.Arg452Gln) rs368184231 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_014165.4(NDUFAF4):c.*1154A>G rs886061825 0.00002
NM_014165.4(NDUFAF4):c.*1727T>C rs886061824 0.00002
NM_014165.4(NDUFAF4):c.-65C>G rs1463385663 0.00002
NM_015602.4(TOR1AIP1):c.1298A>G (p.Tyr433Cys) rs201975339 0.00002
NM_015602.4(TOR1AIP1):c.1328G>A (p.Arg443Gln) rs148871236 0.00002
NM_015602.4(TOR1AIP1):c.205G>T (p.Asp69Tyr) rs537204281 0.00002
NM_015602.4(TOR1AIP1):c.289G>A (p.Glu97Lys) rs761950048 0.00002
NM_015602.4(TOR1AIP1):c.454C>T (p.Arg152Trp) rs771916953 0.00002
NM_015602.4(TOR1AIP1):c.796+5G>A rs774612888 0.00002
NM_015602.4(TOR1AIP1):c.884C>T (p.Ala295Val) rs147648930 0.00002
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*2885A>G rs29000291 0.00002
NM_015713.5(RRM2B):c.*788T>C rs559700946 0.00002
NM_016013.4(NDUFAF1):c.-140C>T rs886051144 0.00002
NM_016013.4(NDUFAF1):c.-34C>G rs751720445 0.00002
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00002
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu) rs779953541 0.00002
NM_017534.6(MYH2):c.182C>T (p.Thr61Met) rs145979297 0.00002
NM_017534.6(MYH2):c.1958T>C (p.Val653Ala) rs1452856320 0.00002
NM_017534.6(MYH2):c.2707G>A (p.Gly903Ser) rs755189388 0.00002
NM_017534.6(MYH2):c.2915A>G (p.Lys972Arg) rs1386070071 0.00002
NM_017534.6(MYH2):c.2996C>A (p.Thr999Asn) rs767951536 0.00002
NM_017534.6(MYH2):c.3161T>C (p.Leu1054Pro) rs781763749 0.00002
NM_017534.6(MYH2):c.326G>A (p.Arg109His) rs1468175087 0.00002
NM_017534.6(MYH2):c.3299T>C (p.Ile1100Thr) rs769463886 0.00002
NM_017534.6(MYH2):c.3334A>G (p.Lys1112Glu) rs150830535 0.00002
NM_017534.6(MYH2):c.3361A>C (p.Ile1121Leu) rs767581337 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017534.6(MYH2):c.3539T>C (p.Met1180Thr) rs765925366 0.00002
NM_017534.6(MYH2):c.373A>C (p.Thr125Pro) rs886044672 0.00002
NM_017534.6(MYH2):c.4163G>A (p.Arg1388His) rs745754711 0.00002
NM_017534.6(MYH2):c.4205G>A (p.Arg1402Gln) rs781252325 0.00002
NM_017534.6(MYH2):c.425C>G (p.Ala142Gly) rs766305131 0.00002
NM_017534.6(MYH2):c.4546T>A (p.Ser1516Thr) rs778405343 0.00002
NM_017534.6(MYH2):c.4798G>A (p.Val1600Met) rs774036368 0.00002
NM_017534.6(MYH2):c.5087C>A (p.Ala1696Asp) rs1050339515 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017534.6(MYH2):c.5153G>A (p.Arg1718His) rs755776701 0.00002
NM_017534.6(MYH2):c.5472+5G>A rs765560187 0.00002
NM_017534.6(MYH2):c.5477G>A (p.Arg1826Gln) rs766875105 0.00002
NM_017534.6(MYH2):c.5540G>A (p.Arg1847His) rs748605415 0.00002
NM_017534.6(MYH2):c.5647T>G (p.Ser1883Ala) rs746016363 0.00002
NM_017534.6(MYH2):c.5744G>A (p.Arg1915Gln) rs201882457 0.00002
NM_017534.6(MYH2):c.979G>A (p.Asp327Asn) rs200893594 0.00002
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994 0.00002
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822 0.00002
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152 0.00002
NM_020451.3(SELENON):c.1075A>G (p.Ile359Val) rs201316362 0.00002
NM_020451.3(SELENON):c.1312G>A (p.Asp438Asn) rs200146431 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020451.3(SELENON):c.1649A>C (p.Lys550Thr) rs1001504099 0.00002
NM_020451.3(SELENON):c.164C>T (p.Ala55Val) rs2047850597 0.00002
NM_020451.3(SELENON):c.430G>A (p.Glu144Lys) rs761068133 0.00002
NM_020451.3(SELENON):c.500C>T (p.Pro167Leu) rs747408056 0.00002
NM_020451.3(SELENON):c.614A>C (p.His205Pro) rs745937377 0.00002
NM_020451.3(SELENON):c.883G>A (p.Glu295Lys) rs978886878 0.00002
NM_020451.3(SELENON):c.902C>T (p.Pro301Leu) rs767340103 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904 0.00002
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_032578.4(MYPN):c.1716A>C (p.Gln572His) rs567930066 0.00002
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) rs142874859 0.00002
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys) rs548754907 0.00002
NM_032608.7(MYO18B):c.3509C>T (p.Ala1170Val) rs754177763 0.00002
NM_032608.7(MYO18B):c.3544C>G (p.Leu1182Val) rs745646260 0.00002
NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala) rs1280344801 0.00002
NM_032790.4(ORAI1):c.75C>G (p.Ser25Arg) rs1273511135 0.00002
NM_133379.5(TTN):c.11179A>G (p.Ile3727Val) rs142723709 0.00002
NM_133379.5(TTN):c.12332C>T (p.Thr4111Ile) rs370317019 0.00002
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val) rs149169686 0.00002
NM_133379.5(TTN):c.14062G>A (p.Val4688Met) rs1476964512 0.00002
NM_138638.5(CFL2):c.*1886G>A rs544351937 0.00002
NM_138638.5(CFL2):c.*720A>T rs771461390 0.00002
NM_139343.3(BIN1):c.*301C>T rs886054830 0.00002
NM_139343.3(BIN1):c.1265C>T (p.Pro422Leu) rs760559539 0.00002
NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) rs746346952 0.00002
NM_139343.3(BIN1):c.1534G>A (p.Ala512Thr) rs756816560 0.00002
NM_139343.3(BIN1):c.1541G>A (p.Arg514His) rs766615886 0.00002
NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys) rs773732601 0.00002
NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) rs771368114 0.00002
NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys) rs1042277527 0.00002
NM_139343.3(BIN1):c.277G>T (p.Asp93Tyr) rs774273606 0.00002
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.775-3C>T rs373768625 0.00002
NM_145064.3(STAC3):c.166G>C (p.Gly56Arg) rs762781734 0.00002
NM_145064.3(STAC3):c.217G>C (p.Glu73Gln) rs777991873 0.00002
NM_145064.3(STAC3):c.232C>G (p.Pro78Ala) rs751491183 0.00002
NM_145064.3(STAC3):c.251T>G (p.Leu84Arg) rs201754072 0.00002
NM_145064.3(STAC3):c.720+6A>G rs375395653 0.00002
NM_152263.4(TPM3):c.*1447G>A rs1005684992 0.00002
NM_152263.4(TPM3):c.*3298A>G rs946669485 0.00002
NM_152263.4(TPM3):c.*3860C>T rs763202740 0.00002
NM_152263.4(TPM3):c.*406T>C rs886045314 0.00002
NM_152263.4(TPM3):c.*4513G>A rs886045296 0.00002
NM_152263.4(TPM3):c.*499C>A rs745782085 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.855-1G>A rs113605263 0.00002
NM_152263.4(TPM3):c.86A>C (p.Glu29Ala) rs1049537934 0.00002
NM_152393.4(KLHL40):c.1130C>T (p.Pro377Leu) rs760884994 0.00002
NM_152393.4(KLHL40):c.1138G>A (p.Ala380Thr) rs561674449 0.00002
NM_152393.4(KLHL40):c.1243T>C (p.Tyr415His) rs759757085 0.00002
NM_152393.4(KLHL40):c.124C>A (p.Arg42Ser) rs763047874 0.00002
NM_152393.4(KLHL40):c.1357T>C (p.Tyr453His) rs1305175995 0.00002
NM_152393.4(KLHL40):c.1369G>C (p.Val457Leu) rs568243443 0.00002
NM_152393.4(KLHL40):c.1439T>C (p.Met480Thr) rs920578484 0.00002
NM_152393.4(KLHL40):c.1493C>G (p.Thr498Ser) rs761479692 0.00002
NM_152393.4(KLHL40):c.388C>T (p.Leu130Phe) rs142509355 0.00002
NM_152393.4(KLHL40):c.475C>G (p.His159Asp) rs753666861 0.00002
NM_152393.4(KLHL40):c.515T>C (p.Leu172Pro) rs749614458 0.00002
NM_152393.4(KLHL40):c.653C>T (p.Pro218Leu) rs1023047173 0.00002
NM_152393.4(KLHL40):c.764A>G (p.Gln255Arg) rs139088361 0.00002
NM_152393.4(KLHL40):c.783C>A (p.His261Gln) rs769290437 0.00002
NM_152393.4(KLHL40):c.806G>A (p.Arg269Gln) rs770828570 0.00002
NM_152393.4(KLHL40):c.988G>T (p.Ala330Ser) rs1439774487 0.00002
NM_174889.5(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068 0.00002
NM_175614.4(NDUFA11):c.-210T>C rs886054650 0.00002
NM_175614.5(NDUFA11):c.288C>T (p.Ala96=) rs941748424 0.00002
NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp) rs572092252 0.00002
NM_198271.5(LMOD3):c.1139C>T (p.Pro380Leu) rs765223466 0.00002
NM_198271.5(LMOD3):c.1249A>T (p.Ile417Leu) rs745957045 0.00002
NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln) rs771791740 0.00002
NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly) rs773327736 0.00002
NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn) rs574142691 0.00002
NM_198271.5(LMOD3):c.511A>G (p.Arg171Gly) rs376560960 0.00002
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr) rs545644080 0.00002
NM_198271.5(LMOD3):c.951C>G (p.Ile317Met) rs761586160 0.00002
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) rs749232741 0.00002
NM_198859.4(PRICKLE2):c.1642G>A (p.Ala548Thr) rs375557486 0.00002
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr) rs772970017 0.00002
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe) rs759047402 0.00002
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser) rs141791087 0.00002
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) rs200223474 0.00002
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val) rs765702961 0.00002
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu) rs371055489 0.00002
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg) rs138533058 0.00002
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly) rs1443371091 0.00002
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His) rs1446878933 0.00002
NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr) rs372791530 0.00002
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606 0.00002
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile) rs750828226 0.00002
NM_198859.4(PRICKLE2):c.923G>A (p.Arg308Gln) rs150386533 0.00002
NM_198859.4(PRICKLE2):c.926C>G (p.Ala309Gly) rs201966297 0.00002
NM_199069.2(NDUFAF3):c.26G>T (p.Ser9Ile) rs551062879 0.00002
NM_199069.2(NDUFAF3):c.438+9C>T rs374825937 0.00002
NM_213720.3(CHCHD10):c.151A>G (p.Thr51Ala) rs1287389347 0.00002
NM_213720.3(CHCHD10):c.323A>C (p.Gln108Pro) rs889489701 0.00002
NM_213720.3(CHCHD10):c.8G>T (p.Arg3Leu) rs766426370 0.00002
NC_000012.12:g.121626849A>T rs1276920059 0.00001
NC_000012.12:g.121626899C>T rs553962719 0.00001
NC_000012.12:g.121626959T>G rs1286173837 0.00001
NC_000012.12:g.121626975G>C rs1555322589 0.00001
NC_000012.12:g.121641077G>A rs782316353 0.00001
NC_000012.12:g.121641213C>T rs781929515 0.00001
NC_000012.12:g.121641245C>T rs559396531 0.00001
NC_000012.12:g.121641365A>G rs1440863247 0.00001
NC_000012.12:g.121641449G>A rs782448303 0.00001
NC_000012.12:g.121641453C>T rs782580422 0.00001
NC_000012.12:g.121641476G>A rs782169524 0.00001
NC_000012.12:g.121641497G>A rs374711919 0.00001
NC_000012.12:g.121641513G>A rs781789915 0.00001
NC_000012.12:g.121641557A>C rs1311584085 0.00001
NC_000012.12:g.121641626G>A rs375464035 0.00001
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro) rs756169459 0.00001
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser) rs1398708257 0.00001
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala) rs1431463591 0.00001
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro) rs762722076 0.00001
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met) rs144014236 0.00001
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg) rs1276731554 0.00001
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp) rs773253177 0.00001
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile) rs768842182 0.00001
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr) rs781739971 0.00001
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile) rs761635115 0.00001
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) rs1657968687 0.00001
NM_000036.3(AMPD1):c.1679+1G>C rs1311864516 0.00001
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln) rs760410776 0.00001
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile) rs1422341304 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) rs572362619 0.00001
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys) rs369335745 0.00001
NM_000036.3(AMPD1):c.782A>G (p.His261Arg) rs554380360 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln) rs1290122973 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala) rs752737494 0.00001
NM_000069.3(CACNA1S):c.1132G>A (p.Val378Ile) rs577240103 0.00001
NM_000069.3(CACNA1S):c.1370C>T (p.Pro457Leu) rs1450678337 0.00001
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) rs140246559 0.00001
NM_000069.3(CACNA1S):c.1526T>C (p.Leu509Pro) rs369852385 0.00001
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile) rs200066766 0.00001
NM_000069.3(CACNA1S):c.1723C>T (p.Leu575Phe) rs772213240 0.00001
NM_000069.3(CACNA1S):c.1787A>G (p.Asn596Ser) rs376841055 0.00001
NM_000069.3(CACNA1S):c.1793A>T (p.Asp598Val) rs749475822 0.00001
NM_000069.3(CACNA1S):c.1827+6C>T rs202244301 0.00001
NM_000069.3(CACNA1S):c.1882G>A (p.Gly628Ser) rs768445692 0.00001
NM_000069.3(CACNA1S):c.1912T>A (p.Cys638Ser) rs766576671 0.00001
NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) rs1347247620 0.00001
NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) rs757750396 0.00001
NM_000069.3(CACNA1S):c.1A>G (p.Met1Val) rs201803122 0.00001
NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) rs774585202 0.00001
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) rs1313818230 0.00001
NM_000069.3(CACNA1S):c.224C>T (p.Pro75Leu) rs779684649 0.00001
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys) rs777247285 0.00001
NM_000069.3(CACNA1S):c.2361-3C>T rs774194599 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser) rs752667224 0.00001
NM_000069.3(CACNA1S):c.272A>T (p.Tyr91Phe) rs1013152799 0.00001
NM_000069.3(CACNA1S):c.2836G>A (p.Gly946Ser) rs569324688 0.00001
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr) rs550479246 0.00001
NM_000069.3(CACNA1S):c.2994C>A (p.Asp998Glu) rs886045798 0.00001
NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) rs749706205 0.00001
NM_000069.3(CACNA1S):c.3173A>G (p.Asn1058Ser) rs777876303 0.00001
NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) rs776320792 0.00001
NM_000069.3(CACNA1S):c.3419A>G (p.Tyr1140Cys) rs1043042231 0.00001
NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys) rs763707356 0.00001
NM_000069.3(CACNA1S):c.356G>C (p.Arg119Pro) rs749588662 0.00001
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr) rs200366112 0.00001
NM_000069.3(CACNA1S):c.3609+6T>C rs1369529387 0.00001
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg) rs776908038 0.00001
NM_000069.3(CACNA1S):c.3722T>C (p.Met1241Thr) rs756259956 0.00001
NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg) rs768780512 0.00001
NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) rs563795648 0.00001
NM_000069.3(CACNA1S):c.4061C>T (p.Thr1354Ile) rs200487546 0.00001
NM_000069.3(CACNA1S):c.4145A>G (p.Asp1382Gly) rs1007920084 0.00001
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln) rs756438139 0.00001
NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg) rs886045796 0.00001
NM_000069.3(CACNA1S):c.4255C>T (p.His1419Tyr) rs1346780583 0.00001
NM_000069.3(CACNA1S):c.4411G>T (p.Val1471Phe) rs1304704158 0.00001
NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr) rs752620158 0.00001
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln) rs891244994 0.00001
NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) rs1413666626 0.00001
NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser) rs147007610 0.00001
NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr) rs200772623 0.00001
NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg) rs758722244 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val) rs771065920 0.00001
NM_000069.3(CACNA1S):c.550G>A (p.Val184Met) rs1662243070 0.00001
NM_000069.3(CACNA1S):c.736G>A (p.Ala246Thr) rs779799849 0.00001
NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) rs1028599438 0.00001
NM_000083.3(CLCN1):c.1443C>T (p.Cys481=) rs781587827 0.00001
NM_000083.3(CLCN1):c.1598C>G (p.Thr533Ser) rs1316380335 0.00001
NM_000083.3(CLCN1):c.2114C>G (p.Pro705Arg) rs1803220621 0.00001
NM_000083.3(CLCN1):c.215G>C (p.Arg72Thr) rs886062033 0.00001
NM_000083.3(CLCN1):c.451G>A (p.Ala151Thr) rs140726900 0.00001
NM_000083.3(CLCN1):c.562+6A>C rs1245612236 0.00001
NM_000083.3(CLCN1):c.697-9C>A rs201207110 0.00001
NM_000083.3(CLCN1):c.756G>A (p.Val252=) rs886062034 0.00001
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His) rs977521848 0.00001
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys) rs376769286 0.00001
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu) rs1557192022 0.00001
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile) rs727503454 0.00001
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val) rs2068413364 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000116.5(TAFAZZIN):c.460+5G>A rs1325571965 0.00001
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala) rs397515744 0.00001
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu) rs1557193924 0.00001
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His) rs371236390 0.00001
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His) rs782655300 0.00001
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe) rs782523340 0.00001
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496 0.00001
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val) rs751092349 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.1939G>C (p.Asp647His) rs1669533378 0.00001
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly) rs1214955457 0.00001
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly) rs1669530550 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr) rs143434901 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu) rs1348209738 0.00001
NM_000182.5(HADHA):c.241G>A (p.Ala81Thr) rs1281408938 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.341A>G (p.Gln114Arg) rs145798498 0.00001
NM_000182.5(HADHA):c.489A>T (p.Lys163Asn) rs1347586924 0.00001
NM_000182.5(HADHA):c.509G>A (p.Gly170Asp) rs746937892 0.00001
NM_000182.5(HADHA):c.67+3G>A rs759265828 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000182.5(HADHA):c.911T>C (p.Ile304Thr) rs369774960 0.00001
NM_000183.2(HADHB):c.-202G>A rs886055865 0.00001
NM_000183.2(HADHB):c.-235delT rs886055864 0.00001
NM_000183.3(HADHB):c.-53C>T rs1187378058 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.1315A>G (p.Met439Val) rs1392529342 0.00001
NM_000183.3(HADHB):c.1336C>T (p.Arg446Trp) rs781574694 0.00001
NM_000183.3(HADHB):c.1343A>G (p.Glu448Gly) rs971767907 0.00001
NM_000183.3(HADHB):c.1390-2A>G rs1297095534 0.00001
NM_000183.3(HADHB):c.173A>G (p.Asp58Gly) rs746076418 0.00001
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys) rs780351691 0.00001
NM_000183.3(HADHB):c.230A>G (p.His77Arg) rs760290863 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000183.3(HADHB):c.443-10T>C rs371257973 0.00001
NM_000183.3(HADHB):c.493G>A (p.Val165Ile) rs766573917 0.00001
NM_000183.3(HADHB):c.503T>A (p.Met168Lys) rs1672656422 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000183.3(HADHB):c.635C>T (p.Pro212Leu) rs758393205 0.00001
NM_000183.3(HADHB):c.74C>T (p.Pro25Leu) rs1434038212 0.00001
NM_000183.3(HADHB):c.809C>T (p.Pro270Leu) rs767202789 0.00001
NM_000183.3(HADHB):c.872A>G (p.Lys291Arg) rs573709691 0.00001
NM_000183.3(HADHB):c.901G>A (p.Gly301Ser) rs891954464 0.00001
NM_000183.3(HADHB):c.919A>G (p.Asn307Asp) rs769558977 0.00001
NM_000183.3(HADHB):c.98G>A (p.Arg33Gln) rs372980146 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_000252.3(MTM1):c.1300C>T (p.Arg434Cys) rs782664128 0.00001
NM_000252.3(MTM1):c.1457G>A (p.Arg486Gln) rs782032230 0.00001
NM_000252.3(MTM1):c.1561G>A (p.Val521Ile) rs782705509 0.00001
NM_000252.3(MTM1):c.1709G>A (p.Arg570Gln) rs782469735 0.00001
NM_000252.3(MTM1):c.646G>A (p.Val216Ile) rs782156492 0.00001
NM_000252.3(MTM1):c.65C>T (p.Thr22Met) rs781886721 0.00001
NM_000252.3(MTM1):c.867+4A>T rs1322584849 0.00001
NM_000252.3(MTM1):c.911C>T (p.Ala304Val) rs781871854 0.00001
NM_000252.3(MTM1):c.931A>G (p.Ile311Val) rs782444216 0.00001
NM_000252.3(MTM1):c.953G>A (p.Arg318Gln) rs782462553 0.00001
NM_000257.4(MYH7):c.*81G>A rs938515730 0.00001
NM_000257.4(MYH7):c.1000-13G>T rs772831757 0.00001
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00001
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362 0.00001
NM_000257.4(MYH7):c.1139-4C>T rs886050422 0.00001
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn) rs780785242 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr) rs775089432 0.00001
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser) rs1174863002 0.00001
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val) rs1339799654 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met) rs772442923 0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile) rs1343088568 0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile) rs397516158 0.00001
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr) rs750204313 0.00001
NM_000257.4(MYH7):c.268A>G (p.Met90Val) rs769054108 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr) rs771599539 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.2922+6G>C rs781192476 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 0.00001
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg) rs1298804415 0.00001
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu) rs730880762 0.00001
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe) rs768312155 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 0.00001
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr) rs763564858 0.00001
NM_000257.4(MYH7):c.3245+2T>G rs113859723 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr) rs774812187 0.00001
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr) rs1487430775 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His) rs200000290 0.00001
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln) rs397516195 0.00001
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys) rs397516196 0.00001
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr) rs397516198 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys) rs1275262402 0.00001
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile) rs730880795 0.00001
NM_000257.4(MYH7):c.4227C>G (p.Ala1409=) rs148788346 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu) rs397516221 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) rs730880806 0.00001
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln) rs1257980330 0.00001
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr) rs730880809 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.493A>G (p.Met165Val) rs730880839 0.00001
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp) rs753115999 0.00001
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) rs1358888752 0.00001
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys) rs730880915 0.00001
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His) rs772008016 0.00001
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=) rs769875223 0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) rs144066768 0.00001
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp) rs149509691 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp) rs748598020 0.00001
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr) rs149193520 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp) rs376668612 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly) rs730880824 0.00001
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys) rs121913652 0.00001
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala) rs1295948508 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr) rs747451109 0.00001
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His) rs752553589 0.00001
NM_000257.4(MYH7):c.5787G>A (p.Thr1929=) rs397516257 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.639+13C>T rs1346778409 0.00001
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln) rs1169518192 0.00001
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803 0.00001
NM_000257.4(MYH7):c.801T>C (p.Leu267=) rs1171861442 0.00001
NM_000257.4(MYH7):c.969T>G (p.Ile323Met) rs730880861 0.00001
NM_000334.4(SCN4A):c.*1218G>A rs908902727 0.00001
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn) rs766055241 0.00001
NM_000334.4(SCN4A):c.1192G>A (p.Ala398Thr) rs1174261819 0.00001
NM_000334.4(SCN4A):c.1207A>G (p.Met403Val) rs566340596 0.00001
NM_000334.4(SCN4A):c.1299G>A (p.Leu433=) rs759176062 0.00001
NM_000334.4(SCN4A):c.147G>C (p.Glu49Asp) rs781147290 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000334.4(SCN4A):c.1559C>T (p.Pro520Leu) rs753391449 0.00001
NM_000334.4(SCN4A):c.155G>A (p.Arg52Gln) rs1240011068 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn) rs747479565 0.00001
NM_000334.4(SCN4A):c.1654G>A (p.Ala552Thr) rs552714913 0.00001
NM_000334.4(SCN4A):c.1698G>T (p.Lys566Asn) rs1415316385 0.00001
NM_000334.4(SCN4A):c.1753A>G (p.Thr585Ala) rs1289461335 0.00001
NM_000334.4(SCN4A):c.1813C>T (p.His605Tyr) rs370438278 0.00001
NM_000334.4(SCN4A):c.1874T>C (p.Met625Thr) rs372436021 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.2221C>T (p.Arg741Cys) rs1472308847 0.00001
NM_000334.4(SCN4A):c.2234A>G (p.His745Arg) rs762279435 0.00001
NM_000334.4(SCN4A):c.2280G>T (p.Gly760=) rs753779301 0.00001
NM_000334.4(SCN4A):c.2609C>T (p.Ala870Val) rs764806517 0.00001
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp) rs760713282 0.00001
NM_000334.4(SCN4A):c.2731C>T (p.His911Tyr) rs752200039 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.2990C>T (p.Ala997Val) rs760962949 0.00001
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met) rs781028684 0.00001
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795 0.00001
NM_000334.4(SCN4A):c.3061C>T (p.Arg1021Cys) rs774176490 0.00001
NM_000334.4(SCN4A):c.307T>G (p.Phe103Val) rs554349260 0.00001
NM_000334.4(SCN4A):c.3080T>C (p.Ile1027Thr) rs772835617 0.00001
NM_000334.4(SCN4A):c.3145-5C>A rs750109872 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val) rs201152347 0.00001
NM_000334.4(SCN4A):c.3441+4G>A rs765176007 0.00001
NM_000334.4(SCN4A):c.3595G>A (p.Asp1199Asn) rs780268341 0.00001
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531 0.00001
NM_000334.4(SCN4A):c.3760G>A (p.Val1254Met) rs763136642 0.00001
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.393-1C>T rs1199378574 0.00001
NM_000334.4(SCN4A):c.4080G>C (p.Met1360Ile) rs774789710 0.00001
NM_000334.4(SCN4A):c.4168A>T (p.Met1390Leu) rs754311975 0.00001
NM_000334.4(SCN4A):c.4267G>A (p.Val1423Ile) rs943905262 0.00001
NM_000334.4(SCN4A):c.4324G>A (p.Val1442Met) rs774452124 0.00001
NM_000334.4(SCN4A):c.4358C>T (p.Ala1453Val) rs779470034 0.00001
NM_000334.4(SCN4A):c.4393G>T (p.Ala1465Ser) rs770398125 0.00001
NM_000334.4(SCN4A):c.4402A>G (p.Ile1468Val) rs748620733 0.00001
NM_000334.4(SCN4A):c.4406G>A (p.Arg1469Gln) rs962610601 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529 0.00001
NM_000334.4(SCN4A):c.458C>T (p.Pro153Leu) rs781033413 0.00001
NM_000334.4(SCN4A):c.4633A>G (p.Ile1545Val) rs527928131 0.00001
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser) rs751454852 0.00001
NM_000334.4(SCN4A):c.4706G>T (p.Gly1569Val) rs373017435 0.00001
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser) rs531658524 0.00001
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr) rs761947899 0.00001
NM_000334.4(SCN4A):c.4814C>T (p.Thr1605Ile) rs1480989482 0.00001
NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=) rs376689238 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.4882G>A (p.Asp1628Asn) rs1004398583 0.00001
NM_000334.4(SCN4A):c.4888G>A (p.Asp1630Asn) rs540950122 0.00001
NM_000334.4(SCN4A):c.4915C>G (p.Arg1639Gly) rs776231847 0.00001
NM_000334.4(SCN4A):c.4937C>A (p.Thr1646Asn) rs1345007864 0.00001
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu) rs765721076 0.00001
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5237C>T (p.Ser1746Phe) rs770063781 0.00001
NM_000334.4(SCN4A):c.5278G>A (p.Gly1760Ser) rs774530569 0.00001
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454 0.00001
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196 0.00001
NM_000334.4(SCN4A):c.536G>A (p.Arg179Gln) rs777130479 0.00001
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu) rs749251685 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.5465C>A (p.Pro1822His) rs773666497 0.00001
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr) rs963907287 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.5506G>A (p.Val1836Ile) rs554836244 0.00001
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) rs764718003 0.00001
NM_000334.4(SCN4A):c.752C>T (p.Ser251Leu) rs751884584 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000334.4(SCN4A):c.91C>T (p.Arg31Trp) rs756059775 0.00001
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn) rs727504405 0.00001
NM_000432.4(MYL2):c.206T>C (p.Met69Thr) rs2071674449 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000540.3(RYR1):c.-118G>A rs1972297039 0.00001
NM_000540.3(RYR1):c.10034T>C (p.Ile3345Thr) rs757271636 0.00001
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His) rs193922834 0.00001
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln) rs538500669 0.00001
NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys) rs1971294742 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.10459G>A (p.Gly3487Ser) rs371645169 0.00001
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10582A>G (p.Thr3528Ala) rs562359442 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile) rs764650501 0.00001
NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser) rs367995800 0.00001
NM_000540.3(RYR1):c.11193+3G>A rs886054400 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.11735T>A (p.Ile3912Asn) rs150588606 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.1204A>G (p.Met402Val) rs766763626 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.12218C>T (p.Ser4073Phe) rs763042731 0.00001
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=) rs764395582 0.00001
NM_000540.3(RYR1):c.12250C>T (p.Arg4084Cys) rs755879946 0.00001
NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg) rs1309530680 0.00001
NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile) rs199660276 0.00001
NM_000540.3(RYR1):c.12608A>G (p.Gln4203Arg) rs757438220 0.00001
NM_000540.3(RYR1):c.12802G>A (p.Ala4268Thr) rs886054404 0.00001
NM_000540.3(RYR1):c.12962G>A (p.Arg4321Gln) rs1313365429 0.00001
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser) rs1568583100 0.00001
NM_000540.3(RYR1):c.13081T>A (p.Ser4361Thr) rs746798861 0.00001
NM_000540.3(RYR1):c.13089C>A (p.Phe4363Leu) rs757097846 0.00001
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr) rs1337566743 0.00001
NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) rs794727983 0.00001
NM_000540.3(RYR1):c.13165G>A (p.Asp4389Asn) rs774812209 0.00001
NM_000540.3(RYR1):c.13234G>A (p.Ala4412Thr) rs759639541 0.00001
NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg) rs905232339 0.00001
NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.13807G>C (p.Gly4603Arg) rs373231458 0.00001
NM_000540.3(RYR1):c.13885G>A (p.Val4629Met) rs752668333 0.00001
NM_000540.3(RYR1):c.14041A>C (p.Lys4681Gln) rs1912187896 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.1418G>A (p.Arg473His) rs538087438 0.00001
NM_000540.3(RYR1):c.14273A>G (p.Lys4758Arg) rs1974034199 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.14869-5C>G rs1199304403 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys) rs757284447 0.00001
NM_000540.3(RYR1):c.1916A>G (p.Tyr639Cys) rs747459771 0.00001
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met) rs4802472 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 0.00001
NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys) rs144845360 0.00001
NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser) rs866990461 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2437G>T (p.Ala813Ser) rs558181103 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2682+13C>T rs745844424 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp) rs371050482 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.2870C>T (p.Thr957Met) rs201827275 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.3055C>T (p.Arg1019Trp) rs757715804 0.00001
NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln) rs781550981 0.00001
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser) rs990842315 0.00001
NM_000540.3(RYR1):c.3164C>G (p.Pro1055Arg) rs1254584171 0.00001
NM_000540.3(RYR1):c.3215G>A (p.Arg1072His) rs757261781 0.00001
NM_000540.3(RYR1):c.3257G>A (p.Arg1086His) rs764009626 0.00001
NM_000540.3(RYR1):c.3299G>A (p.Arg1100His) rs755973279 0.00001
NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser) rs377285238 0.00001
NM_000540.3(RYR1):c.3381+5G>A rs199691436 0.00001
NM_000540.3(RYR1):c.3382G>A (p.Gly1128Ser) rs773310568 0.00001
NM_000540.3(RYR1):c.3418C>T (p.Arg1140Cys) rs193922776 0.00001
NM_000540.3(RYR1):c.3667G>A (p.Glu1223Lys) rs936513262 0.00001
NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg) rs754104129 0.00001
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys) rs745920741 0.00001
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=) rs763082630 0.00001
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=) rs915321867 0.00001
NM_000540.3(RYR1):c.4061A>C (p.Glu1354Ala) rs1458779012 0.00001
NM_000540.3(RYR1):c.4122T>A (p.Asn1374Lys) rs886054382 0.00001
NM_000540.3(RYR1):c.4259G>A (p.Arg1420His) rs150499158 0.00001
NM_000540.3(RYR1):c.4293G>A (p.Thr1431=) rs727504130 0.00001
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile) rs747718728 0.00001
NM_000540.3(RYR1):c.4480G>C (p.Val1494Leu) rs886054387 0.00001
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=) rs886038331 0.00001
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=) rs147901772 0.00001
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala) rs1386118815 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.4766A>C (p.Gln1589Pro) rs780420237 0.00001
NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777 0.00001
NM_000540.3(RYR1):c.4816C>T (p.Arg1606Cys) rs774316371 0.00001
NM_000540.3(RYR1):c.4853G>A (p.Arg1618His) rs957392274 0.00001
NM_000540.3(RYR1):c.488G>A (p.Arg163His) rs193922753 0.00001
NM_000540.3(RYR1):c.4958C>T (p.Ser1653Leu) rs1043661945 0.00001
NM_000540.3(RYR1):c.5009G>A (p.Arg1670His) rs1248039154 0.00001
NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) rs761616815 0.00001
NM_000540.3(RYR1):c.5273C>T (p.Pro1758Leu) rs371317448 0.00001
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly) rs1568484835 0.00001
NM_000540.3(RYR1):c.550G>A (p.Ala184Thr) rs766256366 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp) rs1043076830 0.00001
NM_000540.3(RYR1):c.577T>A (p.Ser193Thr) rs886054379 0.00001
NM_000540.3(RYR1):c.5999C>T (p.Ser2000Phe) rs750324313 0.00001
NM_000540.3(RYR1):c.6128-3C>T rs775568216 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6458T>C (p.Met2153Thr) rs759940587 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr) rs1186616874 0.00001
NM_000540.3(RYR1):c.6575A>G (p.Tyr2192Cys) rs748421460 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000540.3(RYR1):c.683A>G (p.Glu228Gly) rs1260538999 0.00001
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=) rs138617219 0.00001
NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys) rs750951875 0.00001
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu) rs759306349 0.00001
NM_000540.3(RYR1):c.7192C>T (p.Arg2398Cys) rs751654689 0.00001
NM_000540.3(RYR1):c.7215-3C>T rs1190472871 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys) rs923613797 0.00001
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=) rs758872814 0.00001
NM_000540.3(RYR1):c.7604C>T (p.Ser2535Leu) rs776163386 0.00001
NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile) rs1471770301 0.00001
NM_000540.3(RYR1):c.7640C>T (p.Ala2547Val) rs751482960 0.00001
NM_000540.3(RYR1):c.7700C>T (p.Pro2567Leu) rs768399513 0.00001
NM_000540.3(RYR1):c.7787C>T (p.Thr2596Ile) rs193922824 0.00001
NM_000540.3(RYR1):c.7813G>A (p.Asp2605Asn) rs754339645 0.00001
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=) rs777420696 0.00001
NM_000540.3(RYR1):c.7843C>T (p.Arg2615Cys) rs1222041246 0.00001
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.7859A>C (p.Gln2620Pro) rs1425983637 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 0.00001
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=) rs745619519 0.00001
NM_000540.3(RYR1):c.8090G>A (p.Arg2697His) rs1254090942 0.00001
NM_000540.3(RYR1):c.8213G>A (p.Arg2738Gln) rs766961940 0.00001
NM_000540.3(RYR1):c.82C>T (p.Leu28Phe) rs1242495143 0.00001
NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys) rs761023180 0.00001
NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser) rs369040621 0.00001
NM_000540.3(RYR1):c.847C>T (p.His283Tyr) rs753985252 0.00001
NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp) rs193922830 0.00001
NM_000540.3(RYR1):c.8519G>A (p.Arg2840Gln) rs923436076 0.00001
NM_000540.3(RYR1):c.8550T>C (p.Asp2850=) rs767925886 0.00001
NM_000540.3(RYR1):c.8692+15G>A rs1219182533 0.00001
NM_000540.3(RYR1):c.880G>A (p.Glu294Lys) rs779597449 0.00001
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu) rs1377413977 0.00001
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.9101A>C (p.Lys3034Thr) rs754966992 0.00001
NM_000540.3(RYR1):c.9278G>A (p.Arg3093His) rs1414706865 0.00001
NM_000540.3(RYR1):c.929C>T (p.Ala310Val) rs966781989 0.00001
NM_000540.3(RYR1):c.9305A>G (p.Asp3102Gly) rs1970766556 0.00001
NM_000540.3(RYR1):c.946C>T (p.Arg316Cys) rs752652072 0.00001
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg) rs370851939 0.00001
NM_000540.3(RYR1):c.9554+13A>T rs1265960627 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln) rs1171145743 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.9638A>G (p.Tyr3213Cys) rs886054398 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9685A>G (p.Ile3229Val) rs1449733977 0.00001
NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg) rs747488155 0.00001
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met) rs771264217 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.-153G>T rs886054138 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001025389.1(AMPD3):c.-240A>G rs886047584 0.00001
NM_001025389.1(AMPD3):c.-263T>C rs1336172653 0.00001
NM_001025389.2(AMPD3):c.-116A>C rs891567072 0.00001
NM_001025389.2(AMPD3):c.1087C>T (p.His363Tyr) rs886047587 0.00001
NM_001025389.2(AMPD3):c.1090A>G (p.Met364Val) rs979808372 0.00001
NM_001025389.2(AMPD3):c.110C>T (p.Ala37Val) rs375814372 0.00001
NM_001025389.2(AMPD3):c.1304A>G (p.Tyr435Cys) rs201772411 0.00001
NM_001025389.2(AMPD3):c.1496C>T (p.Pro499Leu) rs1446342474 0.00001
NM_001025389.2(AMPD3):c.1614C>T (p.Ser538=) rs781317958 0.00001
NM_001036.6(RYR3):c.161C>T (p.Ser54Leu) rs372207437 0.00001
NM_001036.6(RYR3):c.5837C>T (p.Thr1946Met) rs942287498 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001042631.3(SDHAF1):c.-64C>G rs886054354 0.00001
NM_001077525.3(MTMR14):c.1390G>A (p.Ala464Thr) rs756932434 0.00001
NM_001080449.3(DNA2):c.411G>C (p.Met137Ile) rs760968251 0.00001
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) rs970679543 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064 0.00001
NM_001100.4(ACTA1):c.616+5G>A rs773010488 0.00001
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) rs148514635 0.00001
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) rs1659954399 0.00001
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) rs546670743 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001101362.3(KBTBD13):c.*1112C>T rs886051342 0.00001
NM_001101362.3(KBTBD13):c.*380A>G rs932464244 0.00001
NM_001101362.3(KBTBD13):c.1016C>T (p.Pro339Leu) rs772222290 0.00001
NM_001101362.3(KBTBD13):c.1048C>A (p.Arg350Ser) rs779744493 0.00001
NM_001101362.3(KBTBD13):c.1060T>C (p.Tyr354His) rs1215359382 0.00001
NM_001101362.3(KBTBD13):c.1105A>G (p.Ile369Val) rs780785524 0.00001
NM_001101362.3(KBTBD13):c.1112G>C (p.Cys371Ser) rs1019923438 0.00001
NM_001101362.3(KBTBD13):c.1129G>A (p.Gly377Ser) rs1322919655 0.00001
NM_001101362.3(KBTBD13):c.1133A>G (p.Gln378Arg) rs769042275 0.00001
NM_001101362.3(KBTBD13):c.1189G>A (p.Val397Met) rs1299910198 0.00001
NM_001101362.3(KBTBD13):c.121C>T (p.Arg41Trp) rs775442274 0.00001
NM_001101362.3(KBTBD13):c.122G>A (p.Arg41Gln) rs760757402 0.00001
NM_001101362.3(KBTBD13):c.1248C>G (p.Ile416Met) rs1291680168 0.00001
NM_001101362.3(KBTBD13):c.1265G>A (p.Arg422Gln) rs767053257 0.00001
NM_001101362.3(KBTBD13):c.1291C>T (p.Pro431Ser) rs755476256 0.00001
NM_001101362.3(KBTBD13):c.1294C>T (p.Arg432Trp) rs1376646798 0.00001
NM_001101362.3(KBTBD13):c.131G>C (p.Arg44Pro) rs765124692 0.00001
NM_001101362.3(KBTBD13):c.1331C>T (p.Pro444Leu) rs1301827044 0.00001
NM_001101362.3(KBTBD13):c.154G>A (p.Val52Ile) rs1268655819 0.00001
NM_001101362.3(KBTBD13):c.167G>A (p.Gly56Glu) rs1242559901 0.00001
NM_001101362.3(KBTBD13):c.16C>G (p.Gln6Glu) rs752840796 0.00001
NM_001101362.3(KBTBD13):c.206G>A (p.Arg69Gln) rs762769253 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001101362.3(KBTBD13):c.266A>G (p.Gln89Arg) rs1460367454 0.00001
NM_001101362.3(KBTBD13):c.367C>T (p.His123Tyr) rs1013537691 0.00001
NM_001101362.3(KBTBD13):c.396C>G (p.Gly132=) rs1232211104 0.00001
NM_001101362.3(KBTBD13):c.44G>A (p.Gly15Asp) rs746640081 0.00001
NM_001101362.3(KBTBD13):c.491C>G (p.Thr164Arg) rs1404956647 0.00001
NM_001101362.3(KBTBD13):c.511G>A (p.Glu171Lys) rs1485601321 0.00001
NM_001101362.3(KBTBD13):c.542A>C (p.Asp181Ala) rs1386416146 0.00001
NM_001101362.3(KBTBD13):c.557C>T (p.Ala186Val) rs1435148449 0.00001
NM_001101362.3(KBTBD13):c.588G>A (p.Glu196=) rs2086991061 0.00001
NM_001101362.3(KBTBD13):c.607G>C (p.Gly203Arg) rs944113571 0.00001
NM_001101362.3(KBTBD13):c.632T>A (p.Leu211His) rs924967048 0.00001
NM_001101362.3(KBTBD13):c.646G>A (p.Gly216Ser) rs1052506752 0.00001
NM_001101362.3(KBTBD13):c.649G>A (p.Val217Met) rs555158930 0.00001
NM_001101362.3(KBTBD13):c.64C>G (p.Arg22Gly) rs1193653136 0.00001
NM_001101362.3(KBTBD13):c.677A>G (p.Glu226Gly) rs1339316249 0.00001
NM_001101362.3(KBTBD13):c.739C>A (p.Pro247Thr) rs1187855959 0.00001
NM_001101362.3(KBTBD13):c.775C>T (p.Arg259Cys) rs780964425 0.00001
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe) rs769416249 0.00001
NM_001101362.3(KBTBD13):c.793G>A (p.Gly265Ser) rs764697405 0.00001
NM_001101362.3(KBTBD13):c.811C>G (p.Pro271Ala) rs1436431809 0.00001
NM_001101362.3(KBTBD13):c.82C>T (p.His28Tyr) rs2086976630 0.00001
NM_001101362.3(KBTBD13):c.853T>C (p.Trp285Arg) rs768886246 0.00001
NM_001101362.3(KBTBD13):c.862G>C (p.Val288Leu) rs762309788 0.00001
NM_001101362.3(KBTBD13):c.8G>A (p.Arg3Gln) rs759494469 0.00001
NM_001101362.3(KBTBD13):c.901G>A (p.Ala301Thr) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser) rs540070816 0.00001
NM_001101362.3(KBTBD13):c.914G>A (p.Gly305Asp) rs2086998690 0.00001
NM_001101362.3(KBTBD13):c.916C>T (p.Arg306Cys) rs748475145 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser) rs1311487466 0.00001
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser) rs376923220 0.00001
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln) rs141434302 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro) rs769940120 0.00001
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu) rs1395445136 0.00001
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys) rs754834889 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val) rs769564893 0.00001
NM_001103.4(ACTN2):c.698-1179G>A rs1317190224 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2037del rs886059273 0.00001
NM_001151.4(SLC25A4):c.*2350G>C rs886059274 0.00001
NM_001151.4(SLC25A4):c.*2782G>A rs886059276 0.00001
NM_001151.4(SLC25A4):c.*3264G>A rs1246606859 0.00001
NM_001151.4(SLC25A4):c.*3335C>T rs1734517872 0.00001
NM_001151.4(SLC25A4):c.*3394A>G rs1449333012 0.00001
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) rs772055424 0.00001
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) rs1157004659 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001164507.2(NEB):c.21327T>G (p.Ala7109=) rs777930884 0.00001
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001164507.2(NEB):c.21402C>T (p.Gly7134=) rs774372075 0.00001
NM_001164508.2(NEB):c.*36C>T rs773628949 0.00001
NM_001164508.2(NEB):c.*95G>A rs2049714734 0.00001
NM_001164508.2(NEB):c.-167G>T rs886054948 0.00001
NM_001164508.2(NEB):c.10016T>G (p.Val3339Gly) rs778763661 0.00001
NM_001164508.2(NEB):c.10037C>T (p.Thr3346Ile) rs1560628791 0.00001
NM_001164508.2(NEB):c.10093G>A (p.Asp3365Asn) rs1181779285 0.00001
NM_001164508.2(NEB):c.10112A>G (p.His3371Arg) rs372053480 0.00001
NM_001164508.2(NEB):c.10154A>G (p.Lys3385Arg) rs186278440 0.00001
NM_001164508.2(NEB):c.10166A>G (p.Gln3389Arg) rs2098541776 0.00001
NM_001164508.2(NEB):c.10223A>G (p.Lys3408Arg) rs762891609 0.00001
NM_001164508.2(NEB):c.10312G>A (p.Val3438Met) rs746015217 0.00001
NM_001164508.2(NEB):c.10382C>A (p.Thr3461Asn) rs1003683269 0.00001
NM_001164508.2(NEB):c.10560T>C (p.Asp3520=) rs368803600 0.00001
NM_001164508.2(NEB):c.10676G>A (p.Arg3559His) rs376558062 0.00001
NM_001164508.2(NEB):c.10846C>T (p.Arg3616Trp) rs573036942 0.00001
NM_001164508.2(NEB):c.10856A>G (p.Tyr3619Cys) rs1049205301 0.00001
NM_001164508.2(NEB):c.10910T>C (p.Ile3637Thr) rs2098276722 0.00001
NM_001164508.2(NEB):c.10922C>T (p.Pro3641Leu) rs377027708 0.00001
NM_001164508.2(NEB):c.10940T>C (p.Val3647Ala) rs1316575607 0.00001
NM_001164508.2(NEB):c.10992G>C (p.Gln3664His) rs1386975124 0.00001
NM_001164508.2(NEB):c.11023A>G (p.Thr3675Ala) rs771318349 0.00001
NM_001164508.2(NEB):c.11037G>A (p.Glu3679=) rs886054942 0.00001
NM_001164508.2(NEB):c.11072A>G (p.Asn3691Ser) rs1184035076 0.00001
NM_001164508.2(NEB):c.11133T>C (p.Asp3711=) rs547109690 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.11181+3A>G rs1448725511 0.00001
NM_001164508.2(NEB):c.11300A>G (p.Lys3767Arg) rs761139484 0.00001
NM_001164508.2(NEB):c.11429A>G (p.Lys3810Arg) rs562419268 0.00001
NM_001164508.2(NEB):c.11506G>A (p.Asp3836Asn) rs758723038 0.00001
NM_001164508.2(NEB):c.11506G>T (p.Asp3836Tyr) rs758723038 0.00001
NM_001164508.2(NEB):c.11533G>C (p.Glu3845Gln) rs755390933 0.00001
NM_001164508.2(NEB):c.11582C>T (p.Ala3861Val) rs773465698 0.00001
NM_001164508.2(NEB):c.11798T>C (p.Met3933Thr) rs772235127 0.00001
NM_001164508.2(NEB):c.11828A>G (p.Asp3943Gly) rs371102558 0.00001
NM_001164508.2(NEB):c.11843C>T (p.Ser3948Phe) rs757175445 0.00001
NM_001164508.2(NEB):c.11884A>C (p.Lys3962Gln) rs1194302071 0.00001
NM_001164508.2(NEB):c.11893T>G (p.Ser3965Ala) rs1397887930 0.00001
NM_001164508.2(NEB):c.11946G>A (p.Met3982Ile) rs2097912146 0.00001
NM_001164508.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838 0.00001
NM_001164508.2(NEB):c.11974A>G (p.Ile3992Val) rs1465332264 0.00001
NM_001164508.2(NEB):c.11982C>G (p.Ile3994Met) rs780157705 0.00001
NM_001164508.2(NEB):c.12005A>C (p.Asp4002Ala) rs1457058013 0.00001
NM_001164508.2(NEB):c.12171G>T (p.Lys4057Asn) rs747847680 0.00001
NM_001164508.2(NEB):c.12176C>G (p.Ser4059Cys) rs1475951452 0.00001
NM_001164508.2(NEB):c.12192G>A (p.Met4064Ile) rs776639447 0.00001
NM_001164508.2(NEB):c.12234T>A (p.Thr4078=) rs752937326 0.00001
NM_001164508.2(NEB):c.12239T>C (p.Ile4080Thr) rs557283717 0.00001
NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe) rs373883986 0.00001
NM_001164508.2(NEB):c.1227C>T (p.Leu409=) rs371658494 0.00001
NM_001164508.2(NEB):c.1257T>G (p.Asp419Glu) rs549485763 0.00001
NM_001164508.2(NEB):c.12639+2dup rs2097758186 0.00001
NM_001164508.2(NEB):c.12640-10C>T rs1264692800 0.00001
NM_001164508.2(NEB):c.1312T>G (p.Phe438Val) rs959840049 0.00001
NM_001164508.2(NEB):c.13132A>G (p.Arg4378Gly) rs1189557869 0.00001
NM_001164508.2(NEB):c.1365+5G>T rs1553607969 0.00001
NM_001164508.2(NEB):c.1366A>G (p.Lys456Glu) rs1484438248 0.00001
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val) rs772070576 0.00001
NM_001164508.2(NEB):c.1470+2dup rs1477702016 0.00001
NM_001164508.2(NEB):c.1470C>T (p.Asp490=) rs778189876 0.00001
NM_001164508.2(NEB):c.1478A>G (p.Tyr493Cys) rs1576674181 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.1528G>T (p.Val510Phe) rs749473348 0.00001
NM_001164508.2(NEB):c.1613A>G (p.His538Arg) rs925195870 0.00001
NM_001164508.2(NEB):c.1621C>G (p.Pro541Ala) rs1324280943 0.00001
NM_001164508.2(NEB):c.1648A>G (p.Lys550Glu) rs756920047 0.00001
NM_001164508.2(NEB):c.1649_1651del (p.Lys550_Val551delinsIle) rs746163908 0.00001
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.16760G>A (p.Gly5587Glu) rs1243813979 0.00001
NM_001164508.2(NEB):c.16814T>C (p.Val5605Ala) rs527672223 0.00001
NM_001164508.2(NEB):c.16958T>C (p.Met5653Thr) rs763012000 0.00001
NM_001164508.2(NEB):c.16967C>T (p.Thr5656Ile) rs1353681047 0.00001
NM_001164508.2(NEB):c.1698G>A (p.Glu566=) rs1242070276 0.00001
NM_001164508.2(NEB):c.17013+3A>G rs200059848 0.00001
NM_001164508.2(NEB):c.17080A>G (p.Ile5694Val) rs1287787210 0.00001
NM_001164508.2(NEB):c.17156A>T (p.His5719Leu) rs776095941 0.00001
NM_001164508.2(NEB):c.1718T>C (p.Phe573Ser) rs767710795 0.00001
NM_001164508.2(NEB):c.17197C>T (p.Arg5733Cys) rs1000108046 0.00001
NM_001164508.2(NEB):c.17243G>A (p.Arg5748Gln) rs773983252 0.00001
NM_001164508.2(NEB):c.17347C>T (p.Arg5783Cys) rs1037281077 0.00001
NM_001164508.2(NEB):c.1735G>T (p.Ala579Ser) rs758068422 0.00001
NM_001164508.2(NEB):c.1736C>T (p.Ala579Val) rs2099581961 0.00001
NM_001164508.2(NEB):c.17372G>A (p.Cys5791Tyr) rs780600292 0.00001
NM_001164508.2(NEB):c.17416G>A (p.Glu5806Lys) rs748311158 0.00001
NM_001164508.2(NEB):c.17478G>A (p.Met5826Ile) rs1298196178 0.00001
NM_001164508.2(NEB):c.17545C>T (p.Arg5849Cys) rs771214344 0.00001
NM_001164508.2(NEB):c.17573C>T (p.Thr5858Met) rs747699601 0.00001
NM_001164508.2(NEB):c.17644C>T (p.Arg5882Trp) rs769673154 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.1777A>G (p.Ser593Gly) rs200951652 0.00001
NM_001164508.2(NEB):c.17844+5T>C rs748989842 0.00001
NM_001164508.2(NEB):c.17913T>A (p.Asp5971Glu) rs1167894918 0.00001
NM_001164508.2(NEB):c.17919G>C (p.Lys5973Asn) rs752928207 0.00001
NM_001164508.2(NEB):c.18073C>T (p.Arg6025Cys) rs765174060 0.00001
NM_001164508.2(NEB):c.18083T>C (p.Leu6028Ser) rs1221212842 0.00001
NM_001164508.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549 0.00001
NM_001164508.2(NEB):c.1826T>C (p.Ile609Thr) rs748239538 0.00001
NM_001164508.2(NEB):c.1828G>A (p.Gly610Arg) rs1166853973 0.00001
NM_001164508.2(NEB):c.18295C>T (p.Pro6099Ser) rs1269081768 0.00001
NM_001164508.2(NEB):c.18330T>G (p.Ile6110Met) rs2096323080 0.00001
NM_001164508.2(NEB):c.18375T>C (p.Tyr6125=) rs1300207920 0.00001
NM_001164508.2(NEB):c.1839C>T (p.Ser613=) rs751976783 0.00001
NM_001164508.2(NEB):c.18439C>T (p.His6147Tyr) rs1577779523 0.00001
NM_001164508.2(NEB):c.18542T>C (p.Ile6181Thr) rs764500250 0.00001
NM_001164508.2(NEB):c.18568G>A (p.Val6190Met) rs770824743 0.00001
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu) rs764417105 0.00001
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser) rs1292580496 0.00001
NM_001164508.2(NEB):c.18709C>G (p.His6237Asp) rs750141196 0.00001
NM_001164508.2(NEB):c.18763G>A (p.Val6255Met) rs781706876 0.00001
NM_001164508.2(NEB):c.18811C>T (p.His6271Tyr) rs932662350 0.00001
NM_001164508.2(NEB):c.18904G>A (p.Asp6302Asn) rs766403303 0.00001
NM_001164508.2(NEB):c.1896T>A (p.Asp632Glu) rs978952705 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19242C>T (p.Ala6414=) rs773178453 0.00001
NM_001164508.2(NEB):c.19313A>G (p.His6438Arg) rs1015281617 0.00001
NM_001164508.2(NEB):c.19324C>T (p.Arg6442Trp) rs746394316 0.00001
NM_001164508.2(NEB):c.19372G>C (p.Val6458Leu) rs774608228 0.00001
NM_001164508.2(NEB):c.19426G>A (p.Asp6476Asn) rs752626000 0.00001
NM_001164508.2(NEB):c.1942A>T (p.Asn648Tyr) rs1553592578 0.00001
NM_001164508.2(NEB):c.19486A>G (p.Met6496Val) rs1354087086 0.00001
NM_001164508.2(NEB):c.19558G>A (p.Glu6520Lys) rs753229810 0.00001
NM_001164508.2(NEB):c.1957C>T (p.Pro653Ser) rs759215923 0.00001
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176 0.00001
NM_001164508.2(NEB):c.19613A>T (p.Asp6538Val) rs747034126 0.00001
NM_001164508.2(NEB):c.19624G>A (p.Asp6542Asn) rs757407447 0.00001
NM_001164508.2(NEB):c.19628T>C (p.Ile6543Thr) rs756123091 0.00001
NM_001164508.2(NEB):c.19699C>A (p.His6567Asn) rs886054933 0.00001
NM_001164508.2(NEB):c.19732-5G>A rs779841022 0.00001
NM_001164508.2(NEB):c.19796T>C (p.Val6599Ala) rs1238663844 0.00001
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771 0.00001
NM_001164508.2(NEB):c.19903G>A (p.Asp6635Asn) rs534519331 0.00001
NM_001164508.2(NEB):c.19939A>G (p.Ser6647Gly) rs1559830688 0.00001
NM_001164508.2(NEB):c.19940G>T (p.Ser6647Ile) rs2095355799 0.00001
NM_001164508.2(NEB):c.19944+7A>G rs201751179 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.19958C>A (p.Thr6653Asn) rs1379492488 0.00001
NM_001164508.2(NEB):c.19967G>A (p.Arg6656His) rs767200761 0.00001
NM_001164508.2(NEB):c.1998+4C>A rs763334937 0.00001
NM_001164508.2(NEB):c.1998+5G>A rs1015618560 0.00001
NM_001164508.2(NEB):c.1999G>A (p.Ala667Thr) rs750186349 0.00001
NM_001164508.2(NEB):c.20033G>A (p.Arg6678His) rs1487589344 0.00001
NM_001164508.2(NEB):c.20040G>C (p.Met6680Ile) rs368883773 0.00001
NM_001164508.2(NEB):c.20052C>A (p.Phe6684Leu) rs750704829 0.00001
NM_001164508.2(NEB):c.20122G>T (p.Val6708Phe) rs1312710050 0.00001
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys) rs767886794 0.00001
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr) rs199722285 0.00001
NM_001164508.2(NEB):c.20230C>A (p.Gln6744Lys) rs766890449 0.00001
NM_001164508.2(NEB):c.20258G>A (p.Ser6753Asn) rs2094881047 0.00001
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val) rs372042301 0.00001
NM_001164508.2(NEB):c.20332A>G (p.Ile6778Val) rs753409626 0.00001
NM_001164508.2(NEB):c.20371A>G (p.Lys6791Glu) rs758370711 0.00001
NM_001164508.2(NEB):c.203G>A (p.Arg68Lys) rs1014627144 0.00001
NM_001164508.2(NEB):c.20437G>A (p.Val6813Ile) rs951646007 0.00001
NM_001164508.2(NEB):c.20767G>A (p.Val6923Met) rs753673376 0.00001
NM_001164508.2(NEB):c.20777T>C (p.Met6926Thr) rs763737123 0.00001
NM_001164508.2(NEB):c.20831C>T (p.Thr6944Ile) rs763942330 0.00001
NM_001164508.2(NEB):c.20846C>T (p.Thr6949Met) rs767461697 0.00001
NM_001164508.2(NEB):c.20897G>A (p.Arg6966His) rs767230683 0.00001
NM_001164508.2(NEB):c.20971C>T (p.Arg6991Cys) rs901568718 0.00001
NM_001164508.2(NEB):c.20977G>A (p.Val6993Ile) rs779881258 0.00001
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser) rs770240346 0.00001
NM_001164508.2(NEB):c.21042G>A (p.Arg7014=) rs778067687 0.00001
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=) rs767655200 0.00001
NM_001164508.2(NEB):c.21077G>A (p.Arg7026Gln) rs1487630736 0.00001
NM_001164508.2(NEB):c.21196C>A (p.Leu7066Ile) rs1428589113 0.00001
NM_001164508.2(NEB):c.21209A>G (p.Tyr7070Cys) rs754366347 0.00001
NM_001164508.2(NEB):c.21269C>T (p.Pro7090Leu) rs752467283 0.00001
NM_001164508.2(NEB):c.21312+5G>A rs778363526 0.00001
NM_001164508.2(NEB):c.2135A>T (p.Asp712Val) rs563934691 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 0.00001
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) rs794727042 0.00001
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr) rs1229421352 0.00001
NM_001164508.2(NEB):c.21628G>A (p.Asp7210Asn) rs2090426850 0.00001
NM_001164508.2(NEB):c.2162C>T (p.Thr721Ile) rs749168085 0.00001
NM_001164508.2(NEB):c.21630+6T>G rs1401750275 0.00001
NM_001164508.2(NEB):c.21706G>C (p.Ala7236Pro) rs777945797 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys) rs887471790 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21841-6T>A rs767466501 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly) rs1159938154 0.00001
NM_001164508.2(NEB):c.2200C>G (p.Gln734Glu) rs780299519 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22051-3C>A rs1172424440 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser) rs1195608964 0.00001
NM_001164508.2(NEB):c.22161+5G>C rs376988538 0.00001
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn) rs759974940 0.00001
NM_001164508.2(NEB):c.22272+7T>C rs762551492 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg) rs1553641474 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22502A>G (p.Asp7501Gly) rs771620082 0.00001
NM_001164508.2(NEB):c.22504A>G (p.Lys7502Glu) rs376495046 0.00001
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu) rs570049431 0.00001
NM_001164508.2(NEB):c.22663C>T (p.His7555Tyr) rs746454129 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22750G>A (p.Asp7584Asn) rs758761216 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22801-7T>C rs368298970 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.22906-6C>T rs1449487575 0.00001
NM_001164508.2(NEB):c.22970C>T (p.Thr7657Met) rs770889470 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.23024A>T (p.Tyr7675Phe) rs1284363805 0.00001
NM_001164508.2(NEB):c.23054G>A (p.Gly7685Glu) rs768880396 0.00001
NM_001164508.2(NEB):c.2306G>A (p.Ser769Asn) rs534124991 0.00001
NM_001164508.2(NEB):c.23279A>G (p.Asn7760Ser) rs1232744915 0.00001
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys) rs1476557676 0.00001
NM_001164508.2(NEB):c.23551A>T (p.Ser7851Cys) rs371991383 0.00001
NM_001164508.2(NEB):c.23594T>C (p.Ile7865Thr) rs2068741180 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=) rs778102984 0.00001
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr) rs1166941249 0.00001
NM_001164508.2(NEB):c.2366A>G (p.Asp789Gly) rs201498216 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23893G>C (p.Glu7965Gln) rs767969927 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24020C>T (p.Ser8007Leu) rs763365852 0.00001
NM_001164508.2(NEB):c.24021+8G>A rs1361035933 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys) rs2061715771 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser) rs1297487988 0.00001
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val) rs746180925 0.00001
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr) rs372228043 0.00001
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys) rs1489581077 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.2437G>A (p.Glu813Lys) rs752442261 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24449T>C (p.Met8150Thr) rs774559645 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24493T>C (p.Tyr8165His) rs775139388 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His) rs781388562 0.00001
NM_001164508.2(NEB):c.24873+7C>T rs372378614 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.25089G>A (p.Ser8363=) rs766453942 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys) rs766943894 0.00001
NM_001164508.2(NEB):c.2523+5G>C rs755864993 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.2533A>G (p.Lys845Glu) rs772154599 0.00001
NM_001164508.2(NEB):c.25405-3T>G rs1222497271 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 0.00001
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly) rs774603877 0.00001
NM_001164508.2(NEB):c.2579G>A (p.Ser860Asn) rs1368018193 0.00001
NM_001164508.2(NEB):c.2593C>T (p.Pro865Ser) rs751373246 0.00001
NM_001164508.2(NEB):c.2755C>G (p.His919Asp) rs373168257 0.00001
NM_001164508.2(NEB):c.2892T>C (p.Phe964=) rs762595663 0.00001
NM_001164508.2(NEB):c.2909A>T (p.Glu970Val) rs1337927808 0.00001
NM_001164508.2(NEB):c.2923G>A (p.Ala975Thr) rs917645712 0.00001
NM_001164508.2(NEB):c.2954G>A (p.Arg985His) rs769987120 0.00001
NM_001164508.2(NEB):c.2968A>G (p.Thr990Ala) rs1043417027 0.00001
NM_001164508.2(NEB):c.2998C>T (p.Pro1000Ser) rs763910385 0.00001
NM_001164508.2(NEB):c.3131C>G (p.Ala1044Gly) rs748741238 0.00001
NM_001164508.2(NEB):c.3155A>G (p.Tyr1052Cys) rs758214665 0.00001
NM_001164508.2(NEB):c.3165C>T (p.Asp1055=) rs1448712345 0.00001
NM_001164508.2(NEB):c.3168G>T (p.Leu1056Phe) rs1254743889 0.00001
NM_001164508.2(NEB):c.3207T>G (p.Asp1069Glu) rs1419430871 0.00001
NM_001164508.2(NEB):c.3224C>A (p.Ala1075Asp) rs574309369 0.00001
NM_001164508.2(NEB):c.3224C>T (p.Ala1075Val) rs574309369 0.00001
NM_001164508.2(NEB):c.3255+2dup rs1276026682 0.00001
NM_001164508.2(NEB):c.3275A>C (p.Tyr1092Ser) rs771687432 0.00001
NM_001164508.2(NEB):c.3349G>A (p.Val1117Met) rs1404806019 0.00001
NM_001164508.2(NEB):c.334C>A (p.Pro112Thr) rs369292364 0.00001
NM_001164508.2(NEB):c.3371G>A (p.Arg1124Gln) rs750762588 0.00001
NM_001164508.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515 0.00001
NM_001164508.2(NEB):c.3379A>G (p.Lys1127Glu) rs1180667550 0.00001
NM_001164508.2(NEB):c.3439G>A (p.Val1147Met) rs757659868 0.00001
NM_001164508.2(NEB):c.3532G>A (p.Glu1178Lys) rs774703099 0.00001
NM_001164508.2(NEB):c.3547A>G (p.Met1183Val) rs371816204 0.00001
NM_001164508.2(NEB):c.3568-10A>G rs774345653 0.00001
NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) rs537769519 0.00001
NM_001164508.2(NEB):c.3758C>T (p.Thr1253Met) rs767433330 0.00001
NM_001164508.2(NEB):c.3774T>C (p.Asp1258=) rs761903657 0.00001
NM_001164508.2(NEB):c.390T>A (p.Asp130Glu) rs2099787749 0.00001
NM_001164508.2(NEB):c.3987T>C (p.Asp1329=) rs764778381 0.00001
NM_001164508.2(NEB):c.4003G>A (p.Ala1335Thr) rs1219059740 0.00001
NM_001164508.2(NEB):c.4079A>G (p.Asn1360Ser) rs774219262 0.00001
NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu) rs375155384 0.00001
NM_001164508.2(NEB):c.4102C>T (p.Arg1368Cys) rs772128314 0.00001
NM_001164508.2(NEB):c.4109A>G (p.Tyr1370Cys) rs1230970164 0.00001
NM_001164508.2(NEB):c.413G>A (p.Arg138Gln) rs747423578 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164508.2(NEB):c.4166G>A (p.Ser1389Asn) rs534646949 0.00001
NM_001164508.2(NEB):c.4229A>G (p.His1410Arg) rs758328454 0.00001
NM_001164508.2(NEB):c.422G>T (p.Gly141Val) rs973669056 0.00001
NM_001164508.2(NEB):c.4233T>G (p.His1411Gln) rs2099312487 0.00001
NM_001164508.2(NEB):c.4375A>G (p.Lys1459Glu) rs371542110 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.4507-3T>C rs747017871 0.00001
NM_001164508.2(NEB):c.452A>T (p.Asp151Val) rs2099785772 0.00001
NM_001164508.2(NEB):c.4555G>A (p.Asp1519Asn) rs781655186 0.00001
NM_001164508.2(NEB):c.4653C>G (p.Gly1551=) rs1471553322 0.00001
NM_001164508.2(NEB):c.4655A>G (p.Tyr1552Cys) rs1257025966 0.00001
NM_001164508.2(NEB):c.4670A>G (p.Asp1557Gly) rs774802662 0.00001
NM_001164508.2(NEB):c.4693A>G (p.Lys1565Glu) rs767580883 0.00001
NM_001164508.2(NEB):c.4736C>A (p.Ala1579Asp) rs751602407 0.00001
NM_001164508.2(NEB):c.4789C>T (p.Pro1597Ser) rs772492791 0.00001
NM_001164508.2(NEB):c.4859C>T (p.Ala1620Val) rs2099215851 0.00001
NM_001164508.2(NEB):c.4894G>A (p.Val1632Ile) rs1575593044 0.00001
NM_001164508.2(NEB):c.5056A>G (p.Asn1686Asp) rs369533357 0.00001
NM_001164508.2(NEB):c.5087T>C (p.Ile1696Thr) rs937014596 0.00001
NM_001164508.2(NEB):c.5091G>C (p.Glu1697Asp) rs1349969572 0.00001
NM_001164508.2(NEB):c.5123G>A (p.Gly1708Glu) rs971655417 0.00001
NM_001164508.2(NEB):c.5326C>A (p.Gln1776Lys) rs1306269352 0.00001
NM_001164508.2(NEB):c.5374A>G (p.Lys1792Glu) rs541641039 0.00001
NM_001164508.2(NEB):c.53T>C (p.Val18Ala) rs781637539 0.00001
NM_001164508.2(NEB):c.5434A>G (p.Arg1812Gly) rs1466182533 0.00001
NM_001164508.2(NEB):c.5566C>T (p.Arg1856Trp) rs755791156 0.00001
NM_001164508.2(NEB):c.5571A>G (p.Glu1857=) rs201539560 0.00001
NM_001164508.2(NEB):c.5761G>T (p.Asp1921Tyr) rs763408172 0.00001
NM_001164508.2(NEB):c.5763+5G>A rs776167256 0.00001
NM_001164508.2(NEB):c.5768A>G (p.Gln1923Arg) rs755003638 0.00001
NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) rs763717355 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.5866A>C (p.Ser1956Arg) rs1258945263 0.00001
NM_001164508.2(NEB):c.5912C>T (p.Thr1971Ile) rs762592136 0.00001
NM_001164508.2(NEB):c.5972A>G (p.His1991Arg) rs750070644 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.6227T>A (p.Val2076Asp) rs1031350120 0.00001
NM_001164508.2(NEB):c.6235C>T (p.Arg2079Cys) rs753064438 0.00001
NM_001164508.2(NEB):c.6262G>A (p.Val2088Ile) rs747729019 0.00001
NM_001164508.2(NEB):c.6298C>T (p.Arg2100Trp) rs756398214 0.00001
NM_001164508.2(NEB):c.6388G>A (p.Ala2130Thr) rs756130763 0.00001
NM_001164508.2(NEB):c.6479A>G (p.Asn2160Ser) rs774148469 0.00001
NM_001164508.2(NEB):c.6505A>G (p.Lys2169Glu) rs752328965 0.00001
NM_001164508.2(NEB):c.6523T>C (p.Trp2175Arg) rs1003397118 0.00001
NM_001164508.2(NEB):c.652T>G (p.Phe218Val) rs1347757687 0.00001
NM_001164508.2(NEB):c.6530A>G (p.Lys2177Arg) rs768844040 0.00001
NM_001164508.2(NEB):c.6622C>T (p.Pro2208Ser) rs1369530664 0.00001
NM_001164508.2(NEB):c.6732T>G (p.Asp2244Glu) rs765096308 0.00001
NM_001164508.2(NEB):c.6767A>G (p.Asp2256Gly) rs373713314 0.00001
NM_001164508.2(NEB):c.6806A>G (p.Gln2269Arg) rs768068829 0.00001
NM_001164508.2(NEB):c.6808-5T>C rs887525004 0.00001
NM_001164508.2(NEB):c.6815A>G (p.Tyr2272Cys) rs762107662 0.00001
NM_001164508.2(NEB):c.6851A>G (p.Tyr2284Cys) rs778637750 0.00001
NM_001164508.2(NEB):c.6868G>A (p.Ala2290Thr) rs777601721 0.00001
NM_001164508.2(NEB):c.6968G>A (p.Arg2323Gln) rs369456343 0.00001
NM_001164508.2(NEB):c.6986C>T (p.Pro2329Leu) rs201154794 0.00001
NM_001164508.2(NEB):c.7016A>G (p.Lys2339Arg) rs1452924362 0.00001
NM_001164508.2(NEB):c.7025G>T (p.Ser2342Ile) rs372132667 0.00001
NM_001164508.2(NEB):c.718-6C>T rs371791129 0.00001
NM_001164508.2(NEB):c.7209T>A (p.Val2403=) rs778083630 0.00001
NM_001164508.2(NEB):c.7228-5C>T rs773213959 0.00001
NM_001164508.2(NEB):c.7273A>T (p.Ser2425Cys) rs758881101 0.00001
NM_001164508.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515 0.00001
NM_001164508.2(NEB):c.7385C>G (p.Ala2462Gly) rs1377026295 0.00001
NM_001164508.2(NEB):c.739G>A (p.Ala247Thr) rs571451076 0.00001
NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser) rs776901478 0.00001
NM_001164508.2(NEB):c.7435C>T (p.Leu2479Phe) rs1426898110 0.00001
NM_001164508.2(NEB):c.7465A>G (p.Thr2489Ala) rs1321334284 0.00001
NM_001164508.2(NEB):c.7610A>C (p.Lys2537Thr) rs375216853 0.00001
NM_001164508.2(NEB):c.761C>T (p.Thr254Met) rs376835458 0.00001
NM_001164508.2(NEB):c.7628G>A (p.Arg2543Gln) rs758589097 0.00001
NM_001164508.2(NEB):c.7661G>A (p.Gly2554Asp) rs770338556 0.00001
NM_001164508.2(NEB):c.7691G>T (p.Gly2564Val) rs1334008702 0.00001
NM_001164508.2(NEB):c.7722G>T (p.Met2574Ile) rs748066063 0.00001
NM_001164508.2(NEB):c.7788G>T (p.Trp2596Cys) rs377602828 0.00001
NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr) rs779023599 0.00001
NM_001164508.2(NEB):c.7911G>C (p.Gln2637His) rs771035225 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8066T>C (p.Val2689Ala) rs1241788939 0.00001
NM_001164508.2(NEB):c.8152A>T (p.Met2718Leu) rs767511888 0.00001
NM_001164508.2(NEB):c.8162G>A (p.Arg2721His) rs753996512 0.00001
NM_001164508.2(NEB):c.8257T>C (p.Tyr2753His) rs548343514 0.00001
NM_001164508.2(NEB):c.8372A>C (p.Glu2791Ala) rs1414164577 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8393A>G (p.Tyr2798Cys) rs750799792 0.00001
NM_001164508.2(NEB):c.8467G>A (p.Val2823Met) rs757497327 0.00001
NM_001164508.2(NEB):c.8537C>T (p.Pro2846Leu) rs765207403 0.00001
NM_001164508.2(NEB):c.8545A>T (p.Met2849Leu) rs764499750 0.00001
NM_001164508.2(NEB):c.877C>T (p.Pro293Ser) rs200672688 0.00001
NM_001164508.2(NEB):c.8949A>C (p.Thr2983=) rs774786443 0.00001
NM_001164508.2(NEB):c.8A>G (p.Asp3Gly) rs1245236784 0.00001
NM_001164508.2(NEB):c.9007C>G (p.Leu3003Val) rs1415513452 0.00001
NM_001164508.2(NEB):c.901A>G (p.Arg301Gly) rs756396449 0.00001
NM_001164508.2(NEB):c.9064A>G (p.Ile3022Val) rs2098761523 0.00001
NM_001164508.2(NEB):c.9136G>T (p.Gly3046Cys) rs1335899216 0.00001
NM_001164508.2(NEB):c.9196G>A (p.Val3066Ile) rs755604172 0.00001
NM_001164508.2(NEB):c.9329A>G (p.Tyr3110Cys) rs778306283 0.00001
NM_001164508.2(NEB):c.934T>C (p.Tyr312His) rs1031048700 0.00001
NM_001164508.2(NEB):c.9419T>C (p.Ile3140Thr) rs774964206 0.00001
NM_001164508.2(NEB):c.9425A>G (p.Lys3142Arg) rs771774138 0.00001
NM_001164508.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219 0.00001
NM_001164508.2(NEB):c.9517G>A (p.Asp3173Asn) rs376224722 0.00001
NM_001164508.2(NEB):c.9535C>A (p.Pro3179Thr) rs754263826 0.00001
NM_001164508.2(NEB):c.9540G>A (p.Pro3180=) rs373833313 0.00001
NM_001164508.2(NEB):c.9568G>T (p.Asp3190Tyr) rs781238222 0.00001
NM_001164508.2(NEB):c.9619-3T>C rs756309002 0.00001
NM_001164508.2(NEB):c.9689T>C (p.Met3230Thr) rs760551196 0.00001
NM_001164508.2(NEB):c.9694G>T (p.Ala3232Ser) rs1329330602 0.00001
NM_001164508.2(NEB):c.9767A>G (p.Tyr3256Cys) rs1365723573 0.00001
NM_001164508.2(NEB):c.9796G>A (p.Val3266Met) rs564504601 0.00001
NM_001164508.2(NEB):c.9827G>A (p.Ser3276Asn) rs1168444365 0.00001
NM_001164508.2(NEB):c.9848G>A (p.Gly3283Asp) rs2098553051 0.00001
NM_001164508.2(NEB):c.9884G>A (p.Arg3295Gln) rs201965465 0.00001
NM_001164508.2(NEB):c.9890T>C (p.Ile3297Thr) rs1323917769 0.00001
NM_001164508.2(NEB):c.9964T>A (p.Phe3322Ile) rs369385033 0.00001
NM_001164508.2(NEB):c.9986T>A (p.Phe3329Tyr) rs776107526 0.00001
NM_001256007.3(PNPLA8):c.1874A>G (p.His625Arg) rs1365563377 0.00001
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys) rs760704135 0.00001
NM_001256545.2(MEGF10):c.*1469G>A rs886059867 0.00001
NM_001256545.2(MEGF10):c.*154C>T rs541612518 0.00001
NM_001256545.2(MEGF10):c.*2329T>C rs1231565813 0.00001
NM_001256545.2(MEGF10):c.*2518C>T rs1333924981 0.00001
NM_001256545.2(MEGF10):c.*3053A>G rs778103087 0.00001
NM_001256545.2(MEGF10):c.*3577T>C rs886059878 0.00001
NM_001256545.2(MEGF10):c.*3847G>T rs539314216 0.00001
NM_001256545.2(MEGF10):c.*559G>A rs886059866 0.00001
NM_001256545.2(MEGF10):c.*663A>C rs1328954894 0.00001
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=) rs145815113 0.00001
NM_001256545.2(MEGF10):c.1035T>A (p.Phe345Leu) rs772920449 0.00001
NM_001256545.2(MEGF10):c.1042G>A (p.Glu348Lys) rs770250098 0.00001
NM_001256545.2(MEGF10):c.1051G>A (p.Glu351Lys) rs761988715 0.00001
NM_001256545.2(MEGF10):c.1057C>T (p.Arg353Cys) rs750674329 0.00001
NM_001256545.2(MEGF10):c.1081G>A (p.Gly361Ser) rs757939016 0.00001
NM_001256545.2(MEGF10):c.1108T>C (p.Cys370Arg) rs769248944 0.00001
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=) rs781762135 0.00001
NM_001256545.2(MEGF10):c.1216G>A (p.Gly406Arg) rs776828330 0.00001
NM_001256545.2(MEGF10):c.1322C>T (p.Thr441Ile) rs1160030961 0.00001
NM_001256545.2(MEGF10):c.1402G>T (p.Asp468Tyr) rs745877628 0.00001
NM_001256545.2(MEGF10):c.1465G>A (p.Gly489Ser) rs1561635953 0.00001
NM_001256545.2(MEGF10):c.1523A>G (p.Asn508Ser) rs184606767 0.00001
NM_001256545.2(MEGF10):c.1553C>G (p.Pro518Arg) rs1196146646 0.00001
NM_001256545.2(MEGF10):c.1561C>T (p.Arg521Cys) rs1381176973 0.00001
NM_001256545.2(MEGF10):c.1562G>A (p.Arg521His) rs762636054 0.00001
NM_001256545.2(MEGF10):c.1615G>A (p.Ala539Thr) rs777005994 0.00001
NM_001256545.2(MEGF10):c.1627G>A (p.Asp543Asn) rs927000363 0.00001
NM_001256545.2(MEGF10):c.1672C>T (p.Arg558Cys) rs374111304 0.00001
NM_001256545.2(MEGF10):c.1682C>T (p.Pro561Leu) rs376978969 0.00001
NM_001256545.2(MEGF10):c.1684G>A (p.Gly562Arg) rs768600085 0.00001
NM_001256545.2(MEGF10):c.1709G>A (p.Ser570Asn) rs368340848 0.00001
NM_001256545.2(MEGF10):c.1711G>A (p.Val571Met) rs149021647 0.00001
NM_001256545.2(MEGF10):c.1750C>A (p.Pro584Thr) rs148212621 0.00001
NM_001256545.2(MEGF10):c.1783C>G (p.Pro595Ala) rs761416158 0.00001
NM_001256545.2(MEGF10):c.1801G>A (p.Glu601Lys) rs778255998 0.00001
NM_001256545.2(MEGF10):c.1814G>C (p.Gly605Ala) rs138022464 0.00001
NM_001256545.2(MEGF10):c.1820G>A (p.Arg607Gln) rs759730720 0.00001
NM_001256545.2(MEGF10):c.1831T>C (p.Cys611Arg) rs1765456845 0.00001
NM_001256545.2(MEGF10):c.1833T>G (p.Cys611Trp) rs1765456920 0.00001
NM_001256545.2(MEGF10):c.1876C>G (p.Gln626Glu) rs375356838 0.00001
NM_001256545.2(MEGF10):c.1921A>T (p.Ile641Phe) rs745565012 0.00001
NM_001256545.2(MEGF10):c.1927G>A (p.Gly643Ser) rs767856393 0.00001
NM_001256545.2(MEGF10):c.1960G>A (p.Ala654Thr) rs754091432 0.00001
NM_001256545.2(MEGF10):c.1982C>T (p.Pro661Leu) rs1765519745 0.00001
NM_001256545.2(MEGF10):c.2021C>T (p.Thr674Ile) rs139700339 0.00001
NM_001256545.2(MEGF10):c.2027C>T (p.Thr676Ile) rs749879382 0.00001
NM_001256545.2(MEGF10):c.2051T>C (p.Ile684Thr) rs778154840 0.00001
NM_001256545.2(MEGF10):c.209C>T (p.Thr70Met) rs766379097 0.00001
NM_001256545.2(MEGF10):c.2110C>T (p.Pro704Ser) rs1765635260 0.00001
NM_001256545.2(MEGF10):c.211C>T (p.Arg71Trp) rs387907074 0.00001
NM_001256545.2(MEGF10):c.212G>A (p.Arg71Gln) rs886059862 0.00001
NM_001256545.2(MEGF10):c.2155C>T (p.His719Tyr) rs1192439798 0.00001
NM_001256545.2(MEGF10):c.2174G>A (p.Ser725Asn) rs1457173499 0.00001
NM_001256545.2(MEGF10):c.2221T>C (p.Tyr741His) rs907242213 0.00001
NM_001256545.2(MEGF10):c.2290G>A (p.Gly764Arg) rs769798459 0.00001
NM_001256545.2(MEGF10):c.229C>T (p.Arg77Trp) rs752303954 0.00001
NM_001256545.2(MEGF10):c.2362+2dup rs762560221 0.00001
NM_001256545.2(MEGF10):c.2497G>A (p.Val833Ile) rs1765908207 0.00001
NM_001256545.2(MEGF10):c.2558C>T (p.Ser853Phe) rs952649292 0.00001
NM_001256545.2(MEGF10):c.2629A>G (p.Ile877Val) rs762333863 0.00001
NM_001256545.2(MEGF10):c.2686A>G (p.Thr896Ala) rs1318829482 0.00001
NM_001256545.2(MEGF10):c.2758G>A (p.Ala920Thr) rs756451956 0.00001
NM_001256545.2(MEGF10):c.2789A>G (p.Tyr930Cys) rs1765997329 0.00001
NM_001256545.2(MEGF10):c.2822A>G (p.His941Arg) rs761698194 0.00001
NM_001256545.2(MEGF10):c.2831A>G (p.Asn944Ser) rs767447623 0.00001
NM_001256545.2(MEGF10):c.2882A>G (p.Asn961Ser) rs902313197 0.00001
NM_001256545.2(MEGF10):c.2920G>A (p.Gly974Arg) rs768701922 0.00001
NM_001256545.2(MEGF10):c.2930C>A (p.Thr977Asn) rs1209092369 0.00001
NM_001256545.2(MEGF10):c.2972A>G (p.Asn991Ser) rs756511139 0.00001
NM_001256545.2(MEGF10):c.2989G>A (p.Gly997Arg) rs1766283187 0.00001
NM_001256545.2(MEGF10):c.3007A>G (p.Met1003Val) rs746772649 0.00001
NM_001256545.2(MEGF10):c.3086C>T (p.Pro1029Leu) rs139251235 0.00001
NM_001256545.2(MEGF10):c.3089A>G (p.Tyr1030Cys) rs1433266858 0.00001
NM_001256545.2(MEGF10):c.3094A>G (p.Thr1032Ala) rs747789433 0.00001
NM_001256545.2(MEGF10):c.3166C>T (p.Arg1056Ter) rs989552169 0.00001
NM_001256545.2(MEGF10):c.320C>A (p.Pro107His) rs745615372 0.00001
NM_001256545.2(MEGF10):c.3224A>G (p.Tyr1075Cys) rs1302032599 0.00001
NM_001256545.2(MEGF10):c.3229G>A (p.Val1077Ile) rs376652467 0.00001
NM_001256545.2(MEGF10):c.322C>T (p.His108Tyr) rs769476956 0.00001
NM_001256545.2(MEGF10):c.3278G>A (p.Arg1093His) rs187800437 0.00001
NM_001256545.2(MEGF10):c.3353A>G (p.Asp1118Gly) rs776755147 0.00001
NM_001256545.2(MEGF10):c.3396C>G (p.Ser1132Arg) rs762840278 0.00001
NM_001256545.2(MEGF10):c.3409A>G (p.Ser1137Gly) rs764044446 0.00001
NM_001256545.2(MEGF10):c.3421T>A (p.Ter1141Arg) rs61738064 0.00001
NM_001256545.2(MEGF10):c.407C>T (p.Ser136Phe) rs1476265236 0.00001
NM_001256545.2(MEGF10):c.422G>A (p.Gly141Asp) rs756329251 0.00001
NM_001256545.2(MEGF10):c.446C>T (p.Thr149Ile) rs763157072 0.00001
NM_001256545.2(MEGF10):c.449G>A (p.Ser150Asn) rs762474220 0.00001
NM_001256545.2(MEGF10):c.511G>A (p.Ala171Thr) rs752601027 0.00001
NM_001256545.2(MEGF10):c.520C>T (p.Arg174Trp) rs756799749 0.00001
NM_001256545.2(MEGF10):c.529C>T (p.Arg177Cys) rs748641801 0.00001
NM_001256545.2(MEGF10):c.541C>T (p.Arg181Cys) rs764996899 0.00001
NM_001256545.2(MEGF10):c.553G>A (p.Gly185Ser) rs1479724522 0.00001
NM_001256545.2(MEGF10):c.59T>C (p.Ile20Thr) rs748919606 0.00001
NM_001256545.2(MEGF10):c.682G>C (p.Gly228Arg) rs1005573486 0.00001
NM_001256545.2(MEGF10):c.726T>G (p.Asn242Lys) rs752309579 0.00001
NM_001256545.2(MEGF10):c.780+9C>T rs886059863 0.00001
NM_001256545.2(MEGF10):c.789G>A (p.Val263=) rs1188804374 0.00001
NM_001256545.2(MEGF10):c.808G>A (p.Glu270Lys) rs201393832 0.00001
NM_001256545.2(MEGF10):c.833C>T (p.Ser278Phe) rs1301558900 0.00001
NM_001256545.2(MEGF10):c.899C>G (p.Pro300Arg) rs760972764 0.00001
NM_001256545.2(MEGF10):c.914A>T (p.Glu305Val) rs902150958 0.00001
NM_001256545.2(MEGF10):c.935C>T (p.Pro312Leu) rs199702225 0.00001
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=) rs145870973 0.00001
NM_001256545.2(MEGF10):c.985G>A (p.Gly329Arg) rs148583278 0.00001
NM_001267550.2(TTN):c.*183A>G rs534998626 0.00001
NM_001267550.2(TTN):c.*280A>G rs549242855 0.00001
NM_001267550.2(TTN):c.*504G>A rs957184446 0.00001
NM_001267550.2(TTN):c.*633C>T rs1242028803 0.00001
NM_001267550.2(TTN):c.-217G>A rs886055311 0.00001
NM_001267550.2(TTN):c.100204A>G (p.Thr33402Ala) rs777018654 0.00001
NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr) rs72648283 0.00001
NM_001267550.2(TTN):c.100429G>C (p.Glu33477Gln) rs794729556 0.00001
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp) rs370253076 0.00001
NM_001267550.2(TTN):c.10070C>T (p.Ser3357Phe) rs886042377 0.00001
NM_001267550.2(TTN):c.100745C>G (p.Thr33582Ser) rs1289282264 0.00001
NM_001267550.2(TTN):c.100759G>A (p.Val33587Met) rs1401200720 0.00001
NM_001267550.2(TTN):c.100841G>A (p.Ser33614Asn) rs879230745 0.00001
NM_001267550.2(TTN):c.100903C>T (p.Leu33635Phe) rs879048474 0.00001
NM_001267550.2(TTN):c.100963T>C (p.Phe33655Leu) rs984242810 0.00001
NM_001267550.2(TTN):c.100966C>T (p.Pro33656Ser) rs559295181 0.00001
NM_001267550.2(TTN):c.10099C>T (p.Arg3367Trp) rs762791706 0.00001
NM_001267550.2(TTN):c.101012C>A (p.Ala33671Asp) rs1575296563 0.00001
NM_001267550.2(TTN):c.101144C>T (p.Ser33715Phe) rs755892166 0.00001
NM_001267550.2(TTN):c.101165C>T (p.Thr33722Ile) rs1372744849 0.00001
NM_001267550.2(TTN):c.101284G>A (p.Val33762Ile) rs1385559568 0.00001
NM_001267550.2(TTN):c.101326C>G (p.Pro33776Ala) rs746665837 0.00001
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys) rs1484936368 0.00001
NM_001267550.2(TTN):c.101386G>A (p.Val33796Ile) rs1160027812 0.00001
NM_001267550.2(TTN):c.101387T>C (p.Val33796Ala) rs1454018253 0.00001
NM_001267550.2(TTN):c.101410A>G (p.Met33804Val) rs887802370 0.00001
NM_001267550.2(TTN):c.101429C>G (p.Ser33810Cys) rs1467149853 0.00001
NM_001267550.2(TTN):c.101495T>C (p.Ile33832Thr) rs1476820246 0.00001
NM_001267550.2(TTN):c.101503C>T (p.Arg33835Cys) rs781516399 0.00001
NM_001267550.2(TTN):c.101519C>T (p.Ser33840Phe) rs1202069310 0.00001
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn) rs377406091 0.00001
NM_001267550.2(TTN):c.101551A>C (p.Lys33851Gln) rs1394900631 0.00001
NM_001267550.2(TTN):c.101557A>G (p.Lys33853Glu) rs727505163 0.00001
NM_001267550.2(TTN):c.101572G>C (p.Val33858Leu) rs1060500584 0.00001
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp) rs1172459056 0.00001
NM_001267550.2(TTN):c.101606T>C (p.Ile33869Thr) rs1253957228 0.00001
NM_001267550.2(TTN):c.101655G>T (p.Met33885Ile) rs777177959 0.00001
NM_001267550.2(TTN):c.101679G>C (p.Glu33893Asp) rs764487443 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.101805T>G (p.Ile33935Met) rs76106451 0.00001
NM_001267550.2(TTN):c.101846C>T (p.Thr33949Ile) rs1559040993 0.00001
NM_001267550.2(TTN):c.101866A>C (p.Lys33956Gln) rs1690684721 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.101908G>A (p.Asp33970Asn) rs749832500 0.00001
NM_001267550.2(TTN):c.10191C>A (p.Asp3397Glu) rs773862320 0.00001
NM_001267550.2(TTN):c.102011T>A (p.Leu34004Gln) rs727504897 0.00001
NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe) rs760604476 0.00001
NM_001267550.2(TTN):c.102040C>A (p.Pro34014Thr) rs775271604 0.00001
NM_001267550.2(TTN):c.102095A>G (p.Tyr34032Cys) rs1160872040 0.00001
NM_001267550.2(TTN):c.102116T>C (p.Phe34039Ser) rs1553496582 0.00001
NM_001267550.2(TTN):c.102139A>G (p.Met34047Val) rs755244797 0.00001
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His) rs774174825 0.00001
NM_001267550.2(TTN):c.102232G>C (p.Glu34078Gln) rs1454101167 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr) rs786205293 0.00001
NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln) rs565347600 0.00001
NM_001267550.2(TTN):c.102368T>G (p.Val34123Gly) rs1060500587 0.00001
NM_001267550.2(TTN):c.102377C>T (p.Ala34126Val) rs1280930563 0.00001
NM_001267550.2(TTN):c.102397A>C (p.Ile34133Leu) rs1328046092 0.00001
NM_001267550.2(TTN):c.102418G>A (p.Gly34140Arg) rs1294610003 0.00001
NM_001267550.2(TTN):c.102445G>A (p.Glu34149Lys) rs780580255 0.00001
NM_001267550.2(TTN):c.102446A>G (p.Glu34149Gly) rs1165341799 0.00001
NM_001267550.2(TTN):c.102518G>A (p.Gly34173Asp) rs752184554 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile) rs1185169765 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.102697T>C (p.Tyr34233His) rs1460715226 0.00001
NM_001267550.2(TTN):c.102698A>G (p.Tyr34233Cys) rs1461306828 0.00001
NM_001267550.2(TTN):c.102713G>A (p.Arg34238His) rs767961553 0.00001
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn) rs985229219 0.00001
NM_001267550.2(TTN):c.102814G>C (p.Gly34272Arg) rs794729562 0.00001
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr) rs779369864 0.00001
NM_001267550.2(TTN):c.10288A>C (p.Asn3430His) rs376029089 0.00001
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys) rs768930172 0.00001
NM_001267550.2(TTN):c.102940G>C (p.Gly34314Arg) rs772007737 0.00001
NM_001267550.2(TTN):c.102976G>A (p.Asp34326Asn) rs1227502652 0.00001
NM_001267550.2(TTN):c.102985G>A (p.Ala34329Thr) rs749925915 0.00001
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys) rs765213170 0.00001
NM_001267550.2(TTN):c.103087C>T (p.Pro34363Ser) rs771573240 0.00001
NM_001267550.2(TTN):c.103088C>T (p.Pro34363Leu) rs1457631231 0.00001
NM_001267550.2(TTN):c.103121G>T (p.Cys34374Phe) rs368493317 0.00001
NM_001267550.2(TTN):c.103163G>A (p.Gly34388Asp) rs760436734 0.00001
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro) rs947426325 0.00001
NM_001267550.2(TTN):c.103178C>T (p.Thr34393Ile) rs372299779 0.00001
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg) rs371753532 0.00001
NM_001267550.2(TTN):c.103244G>A (p.Gly34415Asp) rs919270464 0.00001
NM_001267550.2(TTN):c.103267A>G (p.Ile34423Val) rs777746298 0.00001
NM_001267550.2(TTN):c.103288G>T (p.Asp34430Tyr) rs751794473 0.00001
NM_001267550.2(TTN):c.10328C>T (p.Thr3443Ile) rs746052197 0.00001
NM_001267550.2(TTN):c.103334C>T (p.Thr34445Ile) rs778587344 0.00001
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn) rs878913368 0.00001
NM_001267550.2(TTN):c.103459C>A (p.Leu34487Ile) rs779924820 0.00001
NM_001267550.2(TTN):c.103540G>A (p.Val34514Ile) rs769311670 0.00001
NM_001267550.2(TTN):c.103583A>G (p.Glu34528Gly) rs745616639 0.00001
NM_001267550.2(TTN):c.103586A>G (p.Glu34529Gly) rs1184132617 0.00001
NM_001267550.2(TTN):c.103633C>A (p.Pro34545Thr) rs533640993 0.00001
NM_001267550.2(TTN):c.103637G>A (p.Arg34546His) rs973169397 0.00001
NM_001267550.2(TTN):c.103661A>G (p.Glu34554Gly) rs1202031815 0.00001
NM_001267550.2(TTN):c.103672C>T (p.Arg34558Cys) rs745743825 0.00001
NM_001267550.2(TTN):c.103680G>C (p.Lys34560Asn) rs778525620 0.00001
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) rs369429739 0.00001
NM_001267550.2(TTN):c.103693A>G (p.Met34565Val) rs1575256217 0.00001
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg) rs727505009 0.00001
NM_001267550.2(TTN):c.103744G>C (p.Gly34582Arg) rs1458830929 0.00001
NM_001267550.2(TTN):c.103762G>T (p.Val34588Leu) rs368889232 0.00001
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys) rs879240376 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.103835C>G (p.Thr34612Arg) rs1433454372 0.00001
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn) rs1430662349 0.00001
NM_001267550.2(TTN):c.104015C>T (p.Ala34672Val) rs79666048 0.00001
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr) rs886042330 0.00001
NM_001267550.2(TTN):c.104044C>T (p.Arg34682Cys) rs1290406597 0.00001
NM_001267550.2(TTN):c.104045G>A (p.Arg34682His) rs190398670 0.00001
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln) rs775049806 0.00001
NM_001267550.2(TTN):c.104064G>C (p.Glu34688Asp) rs1407460166 0.00001
NM_001267550.2(TTN):c.104089A>G (p.Ser34697Gly) rs1177374613 0.00001
NM_001267550.2(TTN):c.104093G>A (p.Arg34698Gln) rs757940030 0.00001
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu) rs757181586 0.00001
NM_001267550.2(TTN):c.104105A>G (p.His34702Arg) rs1190780620 0.00001
NM_001267550.2(TTN):c.104132C>G (p.Ser34711Cys) rs767826322 0.00001
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys) rs773467994 0.00001
NM_001267550.2(TTN):c.104165C>T (p.Thr34722Ile) rs770151999 0.00001
NM_001267550.2(TTN):c.104192A>G (p.Tyr34731Cys) rs397517789 0.00001
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp) rs753769495 0.00001
NM_001267550.2(TTN):c.104195A>G (p.His34732Arg) rs1250361204 0.00001
NM_001267550.2(TTN):c.104213A>C (p.Glu34738Ala) rs372916018 0.00001
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr) rs1344770836 0.00001
NM_001267550.2(TTN):c.104272C>T (p.Pro34758Ser) rs1296833957 0.00001
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln) rs200773170 0.00001
NM_001267550.2(TTN):c.104308G>A (p.Asp34770Asn) rs1689483910 0.00001
NM_001267550.2(TTN):c.104328A>C (p.Pro34776=) rs1575245592 0.00001
NM_001267550.2(TTN):c.104368C>T (p.Leu34790Phe) rs551824963 0.00001
NM_001267550.2(TTN):c.104435T>C (p.Ile34812Thr) rs1427010837 0.00001
NM_001267550.2(TTN):c.104444T>C (p.Ile34815Thr) rs908034780 0.00001
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys) rs766062367 0.00001
NM_001267550.2(TTN):c.104470C>T (p.His34824Tyr) rs1689413849 0.00001
NM_001267550.2(TTN):c.104474C>A (p.Ala34825Asp) rs766157074 0.00001
NM_001267550.2(TTN):c.104505A>T (p.Arg34835Ser) rs1464816261 0.00001
NM_001267550.2(TTN):c.104564C>A (p.Ser34855Tyr) rs886055222 0.00001
NM_001267550.2(TTN):c.104573T>A (p.Ile34858Asn) rs374668326 0.00001
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His) rs777774818 0.00001
NM_001267550.2(TTN):c.104627C>T (p.Ser34876Leu) rs1170097065 0.00001
NM_001267550.2(TTN):c.104741T>A (p.Met34914Lys) rs373257372 0.00001
NM_001267550.2(TTN):c.104745A>C (p.Lys34915Asn) rs1390713685 0.00001
NM_001267550.2(TTN):c.104761C>G (p.Gln34921Glu) rs369190893 0.00001
NM_001267550.2(TTN):c.104821G>A (p.Ala34941Thr) rs1484852266 0.00001
NM_001267550.2(TTN):c.104849C>T (p.Ser34950Leu) rs762789368 0.00001
NM_001267550.2(TTN):c.104867G>A (p.Gly34956Asp) rs145748940 0.00001
NM_001267550.2(TTN):c.104878C>T (p.Arg34960Cys) rs772702110 0.00001
NM_001267550.2(TTN):c.104890A>T (p.Asn34964Tyr) rs779363624 0.00001
NM_001267550.2(TTN):c.104905C>A (p.Pro34969Thr) rs1256480602 0.00001
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser) rs780028847 0.00001
NM_001267550.2(TTN):c.104952A>C (p.Glu34984Asp) rs1434654451 0.00001
NM_001267550.2(TTN):c.104979G>A (p.Thr34993=) rs775644738 0.00001
NM_001267550.2(TTN):c.104981G>A (p.Ser34994Asn) rs774081159 0.00001
NM_001267550.2(TTN):c.104989C>G (p.Leu34997Val) rs771364302 0.00001
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His) rs779484675 0.00001
NM_001267550.2(TTN):c.105049A>G (p.Thr35017Ala) rs368779151 0.00001
NM_001267550.2(TTN):c.105064G>A (p.Glu35022Lys) rs727504977 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp) rs763437247 0.00001
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val) rs1001393566 0.00001
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr) rs376175862 0.00001
NM_001267550.2(TTN):c.1051G>A (p.Val351Met) rs772889673 0.00001
NM_001267550.2(TTN):c.105219G>A (p.Met35073Ile) rs1689052563 0.00001
NM_001267550.2(TTN):c.105311T>C (p.Met35104Thr) rs373073929 0.00001
NM_001267550.2(TTN):c.105370A>C (p.Lys35124Gln) rs760487831 0.00001
NM_001267550.2(TTN):c.105391A>G (p.Ile35131Val) rs779464128 0.00001
NM_001267550.2(TTN):c.105407G>A (p.Arg35136Gln) rs554213990 0.00001
NM_001267550.2(TTN):c.105430G>A (p.Glu35144Lys) rs568472002 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.105457G>A (p.Asp35153Asn) rs778907927 0.00001
NM_001267550.2(TTN):c.105485G>C (p.Trp35162Ser) rs886042795 0.00001
NM_001267550.2(TTN):c.105491G>A (p.Arg35164His) rs768358201 0.00001
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu) rs879156291 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile) rs1290162863 0.00001
NM_001267550.2(TTN):c.105578C>A (p.Ala35193Asp) rs1380574216 0.00001
NM_001267550.2(TTN):c.105601G>A (p.Val35201Met) rs397517797 0.00001
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro) rs769195414 0.00001
NM_001267550.2(TTN):c.105667G>A (p.Val35223Ile) rs1688851195 0.00001
NM_001267550.2(TTN):c.105673G>A (p.Glu35225Lys) rs1688847847 0.00001
NM_001267550.2(TTN):c.105718C>T (p.Arg35240Trp) rs752729073 0.00001
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys) rs1010179080 0.00001
NM_001267550.2(TTN):c.105825G>C (p.Glu35275Asp) rs377219772 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105839T>A (p.Leu35280His) rs1451951231 0.00001
NM_001267550.2(TTN):c.105863T>C (p.Ile35288Thr) rs764713884 0.00001
NM_001267550.2(TTN):c.105873C>A (p.Phe35291Leu) rs1183014419 0.00001
NM_001267550.2(TTN):c.105880G>A (p.Ala35294Thr) rs879080442 0.00001
NM_001267550.2(TTN):c.10589A>T (p.Tyr3530Phe) rs755931621 0.00001
NM_001267550.2(TTN):c.10592C>G (p.Ser3531Ter) rs767420661 0.00001
NM_001267550.2(TTN):c.106055C>G (p.Ser35352Cys) rs746512551 0.00001
NM_001267550.2(TTN):c.106094G>A (p.Gly35365Asp) rs778524334 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr) rs768296130 0.00001
NM_001267550.2(TTN):c.106180A>G (p.Lys35394Glu) rs745753316 0.00001
NM_001267550.2(TTN):c.106210G>A (p.Val35404Ile) rs752846394 0.00001
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser) rs567191587 0.00001
NM_001267550.2(TTN):c.106286C>T (p.Thr35429Ile) rs1241466221 0.00001
NM_001267550.2(TTN):c.106312A>G (p.Lys35438Glu) rs755067124 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.106374+3A>G rs976515961 0.00001
NM_001267550.2(TTN):c.106376C>T (p.Ala35459Val) rs879170800 0.00001
NM_001267550.2(TTN):c.106379T>C (p.Ile35460Thr) rs1398739704 0.00001
NM_001267550.2(TTN):c.106387G>A (p.Gly35463Arg) rs1474079403 0.00001
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His) rs952475900 0.00001
NM_001267550.2(TTN):c.106549G>A (p.Ala35517Thr) rs772279090 0.00001
NM_001267550.2(TTN):c.106556A>G (p.Lys35519Arg) rs1422047351 0.00001
NM_001267550.2(TTN):c.106680G>C (p.Lys35560Asn) rs779206858 0.00001
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg) rs375572802 0.00001
NM_001267550.2(TTN):c.106771G>A (p.Glu35591Lys) rs935554305 0.00001
NM_001267550.2(TTN):c.106831G>C (p.Ala35611Pro) rs1304855425 0.00001
NM_001267550.2(TTN):c.106853T>C (p.Ile35618Thr) rs1575194805 0.00001
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met) rs751243461 0.00001
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys) rs758497512 0.00001
NM_001267550.2(TTN):c.106994A>G (p.Lys35665Arg) rs746841189 0.00001
NM_001267550.2(TTN):c.107081T>C (p.Leu35694Pro) rs761325938 0.00001
NM_001267550.2(TTN):c.107167T>G (p.Cys35723Gly) rs1687597849 0.00001
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys) rs374992991 0.00001
NM_001267550.2(TTN):c.107218C>G (p.Leu35740Val) rs1176056991 0.00001
NM_001267550.2(TTN):c.107270A>G (p.Tyr35757Cys) rs932225386 0.00001
NM_001267550.2(TTN):c.107302G>A (p.Asp35768Asn) rs794729571 0.00001
NM_001267550.2(TTN):c.107320A>G (p.Ile35774Val) rs774401824 0.00001
NM_001267550.2(TTN):c.107338C>T (p.Arg35780Cys) rs1687436055 0.00001
NM_001267550.2(TTN):c.107377+5G>A rs780526209 0.00001
NM_001267550.2(TTN):c.107446T>C (p.Phe35816Leu) rs1687028450 0.00001
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr) rs760758096 0.00001
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288 0.00001
NM_001267550.2(TTN):c.107620A>C (p.Ile35874Leu) rs1210579565 0.00001
NM_001267550.2(TTN):c.107627A>G (p.Asn35876Ser) rs750430860 0.00001
NM_001267550.2(TTN):c.107630T>C (p.Met35877Thr) rs375824821 0.00001
NM_001267550.2(TTN):c.107657A>G (p.Lys35886Arg) rs727504465 0.00001
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile) rs764323200 0.00001
NM_001267550.2(TTN):c.107665A>C (p.Lys35889Gln) rs760849988 0.00001
NM_001267550.2(TTN):c.107692A>G (p.Lys35898Glu) rs1028436080 0.00001
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg) rs977991321 0.00001
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr) rs769141222 0.00001
NM_001267550.2(TTN):c.107774C>T (p.Thr35925Ile) rs755111765 0.00001
NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu) rs763109620 0.00001
NM_001267550.2(TTN):c.107798G>A (p.Gly35933Asp) rs1686762598 0.00001
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg) rs794729572 0.00001
NM_001267550.2(TTN):c.107864C>A (p.Thr35955Asn) rs370267738 0.00001
NM_001267550.2(TTN):c.107900G>A (p.Gly35967Glu) rs780316966 0.00001
NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met) rs1437975298 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.11461A>G (p.Ile3821Val) rs867402675 0.00001
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly) rs1255499093 0.00001
NM_001267550.2(TTN):c.11678T>C (p.Met3893Thr) rs1553941782 0.00001
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn) rs769466475 0.00001
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser) rs1207560844 0.00001
NM_001267550.2(TTN):c.11706A>G (p.Ile3902Met) rs368845723 0.00001
NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile) rs749320093 0.00001
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys) rs753367343 0.00001
NM_001267550.2(TTN):c.12052G>A (p.Gly4018Ser) rs759214389 0.00001
NM_001267550.2(TTN):c.12113C>A (p.Thr4038Asn) rs758968807 0.00001
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys) rs377114166 0.00001
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg) rs72648920 0.00001
NM_001267550.2(TTN):c.12470C>T (p.Ser4157Phe) rs771706692 0.00001
NM_001267550.2(TTN):c.12484T>C (p.Ser4162Pro) rs548726318 0.00001
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr) rs371669309 0.00001
NM_001267550.2(TTN):c.12801A>T (p.Leu4267Phe) rs750553032 0.00001
NM_001267550.2(TTN):c.12830G>A (p.Ser4277Asn) rs878854286 0.00001
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr) rs770187975 0.00001
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val) rs781488193 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.13219G>A (p.Val4407Met) rs539154603 0.00001
NM_001267550.2(TTN):c.13488G>T (p.Gln4496His) rs1383626434 0.00001
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys) rs761901186 0.00001
NM_001267550.2(TTN):c.13555A>G (p.Ile4519Val) rs759140842 0.00001
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly) rs564287456 0.00001
NM_001267550.2(TTN):c.13817C>G (p.Pro4606Arg) rs762079270 0.00001
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe) rs794729602 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu) rs374361492 0.00001
NM_001267550.2(TTN):c.14092+5G>A rs757575983 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser) rs1172448062 0.00001
NM_001267550.2(TTN):c.1429A>T (p.Thr477Ser) rs727503705 0.00001
NM_001267550.2(TTN):c.14464C>T (p.Pro4822Ser) rs762428750 0.00001
NM_001267550.2(TTN):c.1446C>T (p.Ala482=) rs183258737 0.00001
NM_001267550.2(TTN):c.14782C>T (p.Leu4928Phe) rs758924238 0.00001
NM_001267550.2(TTN):c.14983C>T (p.Pro4995Ser) rs776578141 0.00001
NM_001267550.2(TTN):c.15040A>T (p.Thr5014Ser) rs143093473 0.00001
NM_001267550.2(TTN):c.1537-2A>G rs749182164 0.00001
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554 0.00001
NM_001267550.2(TTN):c.15499C>A (p.Pro5167Thr) rs1031284707 0.00001
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln) rs749816144 0.00001
NM_001267550.2(TTN):c.157G>A (p.Gly53Ser) rs150902810 0.00001
NM_001267550.2(TTN):c.15877A>C (p.Lys5293Gln) rs930814645 0.00001
NM_001267550.2(TTN):c.16058G>A (p.Arg5353Gln) rs751653047 0.00001
NM_001267550.2(TTN):c.16090C>T (p.Arg5364Cys) rs886044310 0.00001
NM_001267550.2(TTN):c.16096G>A (p.Val5366Met) rs372176136 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile) rs535319438 0.00001
NM_001267550.2(TTN):c.16743T>C (p.Asp5581=) rs754798297 0.00001
NM_001267550.2(TTN):c.16750A>G (p.Ile5584Val) rs368116422 0.00001
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys) rs763708860 0.00001
NM_001267550.2(TTN):c.17047T>G (p.Tyr5683Asp) rs371062603 0.00001
NM_001267550.2(TTN):c.17182+5G>T rs2080545375 0.00001
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu) rs779187099 0.00001
NM_001267550.2(TTN):c.17216C>T (p.Thr5739Ile) rs751087281 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17320G>A (p.Asp5774Asn) rs752660722 0.00001
NM_001267550.2(TTN):c.17328A>G (p.Ile5776Met) rs928844023 0.00001
NM_001267550.2(TTN):c.17331A>T (p.Arg5777Ser) rs367942154 0.00001
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr) rs1225094303 0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met) rs1041967765 0.00001
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr) rs763665430 0.00001
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr) rs775293848 0.00001
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr) rs1365679296 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu) rs201490999 0.00001
NM_001267550.2(TTN):c.1800+4A>G rs998572909 0.00001
NM_001267550.2(TTN):c.18098C>T (p.Ala6033Val) rs771457862 0.00001
NM_001267550.2(TTN):c.18247A>G (p.Ile6083Val) rs374012753 0.00001
NM_001267550.2(TTN):c.18445A>G (p.Ile6149Val) rs368897297 0.00001
NM_001267550.2(TTN):c.18560C>T (p.Ala6187Val) rs758380777 0.00001
NM_001267550.2(TTN):c.18589+4C>T rs1449021840 0.00001
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln) rs753281535 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.18709A>T (p.Arg6237Trp) rs750368911 0.00001
NM_001267550.2(TTN):c.18782G>A (p.Cys6261Tyr) rs1060500581 0.00001
NM_001267550.2(TTN):c.187G>A (p.Ala63Thr) rs764892312 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.1925T>C (p.Ile642Thr) rs772036467 0.00001
NM_001267550.2(TTN):c.19426G>A (p.Asp6476Asn) rs1399156064 0.00001
NM_001267550.2(TTN):c.19447T>C (p.Phe6483Leu) rs373750655 0.00001
NM_001267550.2(TTN):c.19497T>C (p.His6499=) rs1223390157 0.00001
NM_001267550.2(TTN):c.19715-3T>C rs2079629592 0.00001
NM_001267550.2(TTN):c.19931A>G (p.Tyr6644Cys) rs375417679 0.00001
NM_001267550.2(TTN):c.19949A>G (p.Asn6650Ser) rs751222632 0.00001
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe) rs776748717 0.00001
NM_001267550.2(TTN):c.19994-13C>T rs775393005 0.00001
NM_001267550.2(TTN):c.20041G>A (p.Ala6681Thr) rs779405672 0.00001
NM_001267550.2(TTN):c.20096T>C (p.Val6699Ala) rs907862282 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe) rs189557659 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.20396G>A (p.Arg6799Gln) rs780069933 0.00001
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro) rs767944090 0.00001
NM_001267550.2(TTN):c.20605G>A (p.Glu6869Lys) rs746830456 0.00001
NM_001267550.2(TTN):c.20692A>G (p.Ser6898Gly) rs878854291 0.00001
NM_001267550.2(TTN):c.20696A>G (p.Glu6899Gly) rs777803266 0.00001
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu) rs375262781 0.00001
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met) rs371824963 0.00001
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met) rs765257439 0.00001
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu) rs753725329 0.00001
NM_001267550.2(TTN):c.21028G>A (p.Val7010Ile) rs564660466 0.00001
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter) rs576359448 0.00001
NM_001267550.2(TTN):c.2113G>C (p.Val705Leu) rs1320087550 0.00001
NM_001267550.2(TTN):c.21142C>T (p.Arg7048Ter) rs770579313 0.00001
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln) rs148072021 0.00001
NM_001267550.2(TTN):c.21157A>C (p.Thr7053Pro) rs727504741 0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) rs786205401 0.00001
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val) rs374625641 0.00001
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=) rs878903172 0.00001
NM_001267550.2(TTN):c.21497T>G (p.Phe7166Cys) rs781740874 0.00001
NM_001267550.2(TTN):c.21574G>A (p.Ala7192Thr) rs1212601280 0.00001
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys) rs1156609638 0.00001
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg) rs878854292 0.00001
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile) rs876658043 0.00001
NM_001267550.2(TTN):c.21981G>T (p.Thr7327=) rs775230627 0.00001
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His) rs754432983 0.00001
NM_001267550.2(TTN):c.2206G>A (p.Gly736Arg) rs876658047 0.00001
NM_001267550.2(TTN):c.22240+14A>G rs1288832655 0.00001
NM_001267550.2(TTN):c.22241-7C>G rs749798825 0.00001
NM_001267550.2(TTN):c.22255C>T (p.Pro7419Ser) rs1486377872 0.00001
NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser) rs749750693 0.00001
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu) rs139957325 0.00001
NM_001267550.2(TTN):c.22529-7C>A rs769076842 0.00001
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) rs200677631 0.00001
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter) rs764687326 0.00001
NM_001267550.2(TTN):c.22673G>T (p.Gly7558Val) rs886055294 0.00001
NM_001267550.2(TTN):c.22687A>T (p.Ile7563Phe) rs1321824189 0.00001
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile) rs769333723 0.00001
NM_001267550.2(TTN):c.23005A>G (p.Asn7669Asp) rs1060500486 0.00001
NM_001267550.2(TTN):c.2331C>G (p.Ile777Met) rs1157627413 0.00001
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met) rs144032104 0.00001
NM_001267550.2(TTN):c.2354T>C (p.Met785Thr) rs1060500532 0.00001
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu) rs919783694 0.00001
NM_001267550.2(TTN):c.23578G>A (p.Ala7860Thr) rs138076523 0.00001
NM_001267550.2(TTN):c.23669G>T (p.Arg7890Ile) rs370939248 0.00001
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys) rs786205400 0.00001
NM_001267550.2(TTN):c.2370+3G>A rs377577258 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.23725G>C (p.Glu7909Gln) rs1161435142 0.00001
NM_001267550.2(TTN):c.23747C>G (p.Pro7916Arg) rs764130233 0.00001
NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys) rs1363515138 0.00001
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln) rs757042397 0.00001
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu) rs773761640 0.00001
NM_001267550.2(TTN):c.24322A>G (p.Lys8108Glu) rs776437978 0.00001
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser) rs753025964 0.00001
NM_001267550.2(TTN):c.24493C>A (p.Leu8165Ile) rs1060500582 0.00001
NM_001267550.2(TTN):c.24520G>A (p.Val8174Met) rs727504961 0.00001
NM_001267550.2(TTN):c.24546T>A (p.Val8182=) rs397517508 0.00001
NM_001267550.2(TTN):c.24563T>C (p.Ile8188Thr) rs1184649078 0.00001
NM_001267550.2(TTN):c.24613A>G (p.Ile8205Val) rs747306219 0.00001
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys) rs377762626 0.00001
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu) rs375219172 0.00001
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln) rs759985618 0.00001
NM_001267550.2(TTN):c.2494-5T>C rs370759512 0.00001
NM_001267550.2(TTN):c.25036G>A (p.Ala8346Thr) rs755302381 0.00001
NM_001267550.2(TTN):c.25144C>T (p.Arg8382Cys) rs776519143 0.00001
NM_001267550.2(TTN):c.25215T>A (p.Asn8405Lys) rs371923232 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val) rs1560628327 0.00001
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys) rs369517119 0.00001
NM_001267550.2(TTN):c.25640-4A>G rs886055292 0.00001
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys) rs778578388 0.00001
NM_001267550.2(TTN):c.26116G>A (p.Asp8706Asn) rs377074955 0.00001
NM_001267550.2(TTN):c.26200+5G>A rs727503645 0.00001
NM_001267550.2(TTN):c.26275A>G (p.Ile8759Val) rs1317485542 0.00001
NM_001267550.2(TTN):c.26350T>C (p.Trp8784Arg) rs375067750 0.00001
NM_001267550.2(TTN):c.26444C>G (p.Ala8815Gly) rs1168744166 0.00001
NM_001267550.2(TTN):c.26753A>G (p.Gln8918Arg) rs760040495 0.00001
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile) rs72648993 0.00001
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg) rs766862084 0.00001
NM_001267550.2(TTN):c.26989A>G (p.Thr8997Ala) rs953177976 0.00001
NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu) rs1203714029 0.00001
NM_001267550.2(TTN):c.27158T>C (p.Phe9053Ser) rs761745332 0.00001
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493 0.00001
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00001
NM_001267550.2(TTN):c.27425C>T (p.Ser9142Leu) rs781609380 0.00001
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe) rs186857044 0.00001
NM_001267550.2(TTN):c.2745C>G (p.Arg915=) rs773568773 0.00001
NM_001267550.2(TTN):c.27607G>A (p.Glu9203Lys) rs769097909 0.00001
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val) rs765453217 0.00001
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) rs780101457 0.00001
NM_001267550.2(TTN):c.27667T>C (p.Ser9223Pro) rs201253546 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met) rs745792278 0.00001
NM_001267550.2(TTN):c.27747G>A (p.Thr9249=) rs778970711 0.00001
NM_001267550.2(TTN):c.27856G>T (p.Val9286Phe) rs777547707 0.00001
NM_001267550.2(TTN):c.27872T>C (p.Phe9291Ser) rs754982924 0.00001
NM_001267550.2(TTN):c.27886+5T>C rs876658050 0.00001
NM_001267550.2(TTN):c.27896T>G (p.Leu9299Arg) rs879046044 0.00001
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met) rs367734747 0.00001
NM_001267550.2(TTN):c.28011C>T (p.Asp9337=) rs757848062 0.00001
NM_001267550.2(TTN):c.28132C>T (p.Pro9378Ser) rs879082824 0.00001
NM_001267550.2(TTN):c.28207C>G (p.Leu9403Val) rs752742472 0.00001
NM_001267550.2(TTN):c.28308A>C (p.Glu9436Asp) rs906433178 0.00001
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg) rs397517529 0.00001
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile) rs752246051 0.00001
NM_001267550.2(TTN):c.2841G>A (p.Ser947=) rs774074192 0.00001
NM_001267550.2(TTN):c.28424T>G (p.Val9475Gly) rs1363580617 0.00001
NM_001267550.2(TTN):c.28462+3A>G rs1402065855 0.00001
NM_001267550.2(TTN):c.28495C>T (p.Leu9499Phe) rs1060500573 0.00001
NM_001267550.2(TTN):c.28592A>C (p.Asn9531Thr) rs537464608 0.00001
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp) rs397517530 0.00001
NM_001267550.2(TTN):c.28880G>A (p.Gly9627Asp) rs878908638 0.00001
NM_001267550.2(TTN):c.29134+5G>A rs2075957069 0.00001
NM_001267550.2(TTN):c.29227G>A (p.Gly9743Ser) rs368073588 0.00001
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp) rs775854531 0.00001
NM_001267550.2(TTN):c.295+5G>A rs56310717 0.00001
NM_001267550.2(TTN):c.29502A>G (p.Glu9834=) rs759468315 0.00001
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His) rs558220856 0.00001
NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly) rs794727011 0.00001
NM_001267550.2(TTN):c.2967C>A (p.Phe989Leu) rs376548316 0.00001
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr) rs373651676 0.00001
NM_001267550.2(TTN):c.29777A>C (p.Asn9926Thr) rs377147236 0.00001
NM_001267550.2(TTN):c.29864G>A (p.Arg9955Gln) rs182332374 0.00001
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=) rs781508217 0.00001
NM_001267550.2(TTN):c.30044C>T (p.Pro10015Leu) rs1178694077 0.00001
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln) rs370072382 0.00001
NM_001267550.2(TTN):c.30223+5G>A rs368199297 0.00001
NM_001267550.2(TTN):c.3027C>A (p.Asp1009Glu) rs794729523 0.00001
NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met) rs746275042 0.00001
NM_001267550.2(TTN):c.30511+1G>C rs879082842 0.00001
NM_001267550.2(TTN):c.30605C>T (p.Pro10202Leu) rs769528182 0.00001
NM_001267550.2(TTN):c.30614T>C (p.Val10205Ala) rs1060500449 0.00001
NM_001267550.2(TTN):c.30682+7T>C rs752353097 0.00001
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val) rs727504902 0.00001
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys) rs886055287 0.00001
NM_001267550.2(TTN):c.31274T>C (p.Ile10425Thr) rs1198546466 0.00001
NM_001267550.2(TTN):c.31295A>G (p.Lys10432Arg) rs879134517 0.00001
NM_001267550.2(TTN):c.31453G>T (p.Val10485Phe) rs762572524 0.00001
NM_001267550.2(TTN):c.31710G>C (p.Glu10570Asp) rs1338646609 0.00001
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) rs766441395 0.00001
NM_001267550.2(TTN):c.31787T>C (p.Val10596Ala) rs746313065 0.00001
NM_001267550.2(TTN):c.31865G>A (p.Gly10622Glu) rs2071793480 0.00001
NM_001267550.2(TTN):c.32011+15T>G rs886055285 0.00001
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val) rs759873829 0.00001
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) rs573756163 0.00001
NM_001267550.2(TTN):c.3214G>A (p.Glu1072Lys) rs1263370770 0.00001
NM_001267550.2(TTN):c.32198-9C>A rs555383226 0.00001
NM_001267550.2(TTN):c.32211G>A (p.Glu10737=) rs747597729 0.00001
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met) rs764015733 0.00001
NM_001267550.2(TTN):c.3242C>T (p.Ala1081Val) rs528216574 0.00001
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe) rs753951400 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.32571G>T (p.Lys10857Asn) rs370317568 0.00001
NM_001267550.2(TTN):c.32630C>G (p.Pro10877Arg) rs915579403 0.00001
NM_001267550.2(TTN):c.326G>A (p.Arg109Gln) rs766434493 0.00001
NM_001267550.2(TTN):c.32722+3A>G rs1182220171 0.00001
NM_001267550.2(TTN):c.32781A>T (p.Lys10927Asn) rs1250259159 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val) rs886055284 0.00001
NM_001267550.2(TTN):c.32887+3A>G rs796176592 0.00001
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala) rs776641064 0.00001
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His) rs769393540 0.00001
NM_001267550.2(TTN):c.33172+3A>G rs2069431645 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.33331G>A (p.Ala11111Thr) rs545067681 0.00001
NM_001267550.2(TTN):c.33418+1G>A rs746588865 0.00001
NM_001267550.2(TTN):c.33419-2A>C rs756841034 0.00001
NM_001267550.2(TTN):c.33445C>T (p.Pro11149Ser) rs377760800 0.00001
NM_001267550.2(TTN):c.33580G>A (p.Val11194Met) rs778695102 0.00001
NM_001267550.2(TTN):c.33581-8C>G rs888213772 0.00001
NM_001267550.2(TTN):c.33601C>A (p.Pro11201Thr) rs769195017 0.00001
NM_001267550.2(TTN):c.33788T>C (p.Val11263Ala) rs748148683 0.00001
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu) rs1336824666 0.00001
NM_001267550.2(TTN):c.3386A>G (p.Lys1129Arg) rs181375012 0.00001
NM_001267550.2(TTN):c.33890T>A (p.Val11297Glu) rs768802752 0.00001
NM_001267550.2(TTN):c.33911-7T>C rs397517545 0.00001
NM_001267550.2(TTN):c.33961G>A (p.Val11321Ile) rs878854298 0.00001
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) rs886055281 0.00001
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp) rs864309575 0.00001
NM_001267550.2(TTN):c.34201G>A (p.Glu11401Lys) rs765827814 0.00001
NM_001267550.2(TTN):c.34238C>G (p.Pro11413Arg) rs769658955 0.00001
NM_001267550.2(TTN):c.34240G>A (p.Glu11414Lys) rs748080418 0.00001
NM_001267550.2(TTN):c.34247A>T (p.Glu11416Val) rs886055280 0.00001
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln) rs1298237270 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.34583C>T (p.Pro11528Leu) rs1553815977 0.00001
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503 0.00001
NM_001267550.2(TTN):c.34612+3A>G rs371880098 0.00001
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu) rs887706962 0.00001
NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala) rs371203499 0.00001
NM_001267550.2(TTN):c.34826T>C (p.Val11609Ala) rs767524348 0.00001
NM_001267550.2(TTN):c.34969C>T (p.Arg11657Cys) rs1187808745 0.00001
NM_001267550.2(TTN):c.35265A>G (p.Lys11755=) rs774526152 0.00001
NM_001267550.2(TTN):c.35293G>C (p.Glu11765Gln) rs1060500577 0.00001
NM_001267550.2(TTN):c.35294A>G (p.Glu11765Gly) rs1319484684 0.00001
NM_001267550.2(TTN):c.35384A>C (p.Lys11795Thr) rs890825956 0.00001
NM_001267550.2(TTN):c.35629+3A>G rs751928755 0.00001
NM_001267550.2(TTN):c.35678C>G (p.Thr11893Ser) rs750832804 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.36043+6T>C rs765412168 0.00001
NM_001267550.2(TTN):c.3611A>C (p.Glu1204Ala) rs779302369 0.00001
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) rs200749662 0.00001
NM_001267550.2(TTN):c.36322T>A (p.Ser12108Thr) rs989137248 0.00001
NM_001267550.2(TTN):c.36365-7T>C rs746341489 0.00001
NM_001267550.2(TTN):c.36532G>A (p.Val12178Met) rs1664222065 0.00001
NM_001267550.2(TTN):c.36568A>G (p.Lys12190Glu) rs749339946 0.00001
NM_001267550.2(TTN):c.37208A>C (p.Glu12403Ala) rs878854301 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu) rs1302865780 0.00001
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala) rs1168512202 0.00001
NM_001267550.2(TTN):c.38042C>T (p.Pro12681Leu) rs1553777756 0.00001
NM_001267550.2(TTN):c.38316A>C (p.Glu12772Asp) rs1195550297 0.00001
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu) rs864622709 0.00001
NM_001267550.2(TTN):c.38465-5T>A rs906108078 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.38792-2A>T rs1185808525 0.00001
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr) rs878854302 0.00001
NM_001267550.2(TTN):c.39044-15C>T rs749495580 0.00001
NM_001267550.2(TTN):c.39089C>T (p.Ala13030Val) rs747459623 0.00001
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His) rs770419196 0.00001
NM_001267550.2(TTN):c.39295G>A (p.Val13099Met) rs1394450889 0.00001
NM_001267550.2(TTN):c.39418G>A (p.Ala13140Thr) rs781407045 0.00001
NM_001267550.2(TTN):c.39465G>A (p.Val13155=) rs886055279 0.00001
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys) rs758150185 0.00001
NM_001267550.2(TTN):c.39709+3A>G rs543584748 0.00001
NM_001267550.2(TTN):c.39709+7G>A rs750763722 0.00001
NM_001267550.2(TTN):c.39766A>G (p.Lys13256Glu) rs762177160 0.00001
NM_001267550.2(TTN):c.39835A>G (p.Lys13279Glu) rs2062656094 0.00001
NM_001267550.2(TTN):c.39851A>G (p.Lys13284Arg) rs768562722 0.00001
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr) rs749860520 0.00001
NM_001267550.2(TTN):c.39928A>C (p.Lys13310Gln) rs1317959875 0.00001
NM_001267550.2(TTN):c.40126G>A (p.Val13376Ile) rs1060500428 0.00001
NM_001267550.2(TTN):c.40222+6T>C rs1182693405 0.00001
NM_001267550.2(TTN):c.4031A>G (p.Asp1344Gly) rs1203373476 0.00001
NM_001267550.2(TTN):c.40349C>T (p.Pro13450Leu) rs372424006 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001267550.2(TTN):c.40409-3A>C rs1269069315 0.00001
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu) rs371714559 0.00001
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys) rs528749203 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488 0.00001
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly) rs756446770 0.00001
NM_001267550.2(TTN):c.40690A>G (p.Lys13564Glu) rs758942655 0.00001
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=) rs750761966 0.00001
NM_001267550.2(TTN):c.40723+3A>G rs1468033868 0.00001
NM_001267550.2(TTN):c.40766C>T (p.Pro13589Leu) rs200939270 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.40786+3G>A rs551963261 0.00001
NM_001267550.2(TTN):c.40837G>A (p.Ala13613Thr) rs750346508 0.00001
NM_001267550.2(TTN):c.40877-3C>A rs746615904 0.00001
NM_001267550.2(TTN):c.40946C>T (p.Pro13649Leu) rs771839127 0.00001
NM_001267550.2(TTN):c.40988G>A (p.Ser13663Asn) rs1060500537 0.00001
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro) rs72650078 0.00001
NM_001267550.2(TTN):c.41146A>G (p.Ile13716Val) rs531807386 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.41342G>A (p.Arg13781His) rs370878642 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.41428G>A (p.Val13810Met) rs763668057 0.00001
NM_001267550.2(TTN):c.41540C>T (p.Ala13847Val) rs1439068447 0.00001
NM_001267550.2(TTN):c.41620G>A (p.Asp13874Asn) rs770045249 0.00001
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu) rs144011561 0.00001
NM_001267550.2(TTN):c.416G>A (p.Arg139Gln) rs780003580 0.00001
NM_001267550.2(TTN):c.41745G>A (p.Ala13915=) rs780790022 0.00001
NM_001267550.2(TTN):c.41818G>C (p.Glu13940Gln) rs1172846357 0.00001
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His) rs540582993 0.00001
NM_001267550.2(TTN):c.41894T>G (p.Val13965Gly) rs878854306 0.00001
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr) rs777451130 0.00001
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952 0.00001
NM_001267550.2(TTN):c.42714T>A (p.His14238Gln) rs1438979717 0.00001
NM_001267550.2(TTN):c.42764G>A (p.Ser14255Asn) rs368433387 0.00001
NM_001267550.2(TTN):c.42769G>A (p.Asp14257Asn) rs746571349 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.42946+3G>A rs763647141 0.00001
NM_001267550.2(TTN):c.42979G>A (p.Gly14327Arg) rs375403946 0.00001
NM_001267550.2(TTN):c.4309A>G (p.Met1437Val) rs758098952 0.00001
NM_001267550.2(TTN):c.43100T>C (p.Ile14367Thr) rs397517572 0.00001
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys) rs1018666766 0.00001
NM_001267550.2(TTN):c.43146G>A (p.Leu14382=) rs751236287 0.00001
NM_001267550.2(TTN):c.43249G>A (p.Val14417Ile) rs906675886 0.00001
NM_001267550.2(TTN):c.43460G>A (p.Ser14487Asn) rs770233190 0.00001
NM_001267550.2(TTN):c.43480+3A>T rs1471215133 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43669G>A (p.Asp14557Asn) rs794729431 0.00001
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr) rs745655055 0.00001
NM_001267550.2(TTN):c.43717A>G (p.Met14573Val) rs755610701 0.00001
NM_001267550.2(TTN):c.4373T>G (p.Val1458Gly) rs1164246536 0.00001
NM_001267550.2(TTN):c.43955T>C (p.Ile14652Thr) rs767038885 0.00001
NM_001267550.2(TTN):c.44014G>A (p.Asp14672Asn) rs1339350914 0.00001
NM_001267550.2(TTN):c.44017C>G (p.Arg14673Gly) rs773004022 0.00001
NM_001267550.2(TTN):c.44096C>G (p.Ser14699Cys) rs1293270234 0.00001
NM_001267550.2(TTN):c.44154+6G>T rs794729234 0.00001
NM_001267550.2(TTN):c.44285G>A (p.Arg14762Gln) rs727505019 0.00001
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn) rs753053245 0.00001
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met) rs775225695 0.00001
NM_001267550.2(TTN):c.4453A>G (p.Met1485Val) rs753632784 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.4480G>A (p.Gly1494Ser) rs774506028 0.00001
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly) rs796961766 0.00001
NM_001267550.2(TTN):c.44998A>G (p.Ile15000Val) rs775264673 0.00001
NM_001267550.2(TTN):c.45505G>A (p.Ala15169Thr) rs759247684 0.00001
NM_001267550.2(TTN):c.45589A>G (p.Arg15197Gly) rs748906368 0.00001
NM_001267550.2(TTN):c.4558G>A (p.Ala1520Thr) rs1060500440 0.00001
NM_001267550.2(TTN):c.45653G>A (p.Arg15218Gln) rs548035065 0.00001
NM_001267550.2(TTN):c.45786C>T (p.Tyr15262=) rs532009022 0.00001
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly) rs886055274 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys) rs774339883 0.00001
NM_001267550.2(TTN):c.46160T>C (p.Ile15387Thr) rs397517585 0.00001
NM_001267550.2(TTN):c.46169C>T (p.Pro15390Leu) rs879113967 0.00001
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys) rs753664074 0.00001
NM_001267550.2(TTN):c.46371G>C (p.Glu15457Asp) rs764100235 0.00001
NM_001267550.2(TTN):c.4649T>C (p.Val1550Ala) rs765557850 0.00001
NM_001267550.2(TTN):c.46521G>C (p.Lys15507Asn) rs781291079 0.00001
NM_001267550.2(TTN):c.46702C>T (p.Pro15568Ser) rs561728671 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr) rs145957227 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.47296A>T (p.Thr15766Ser) rs878854312 0.00001
NM_001267550.2(TTN):c.47380G>A (p.Val15794Ile) rs727504878 0.00001
NM_001267550.2(TTN):c.47402C>T (p.Thr15801Ile) rs148808516 0.00001
NM_001267550.2(TTN):c.47498T>A (p.Val15833Glu) rs758495958 0.00001
NM_001267550.2(TTN):c.47530C>G (p.Pro15844Ala) rs760956511 0.00001
NM_001267550.2(TTN):c.47684T>C (p.Ile15895Thr) rs768530598 0.00001
NM_001267550.2(TTN):c.47687T>C (p.Ile15896Thr) rs1411457226 0.00001
NM_001267550.2(TTN):c.47740G>C (p.Val15914Leu) rs764059405 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser) rs1012905833 0.00001
NM_001267550.2(TTN):c.47875+12T>G rs758849410 0.00001
NM_001267550.2(TTN):c.47875+6T>C rs780524253 0.00001
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu) rs727503623 0.00001
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) rs779940754 0.00001
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys) rs758399903 0.00001
NM_001267550.2(TTN):c.48099T>C (p.Tyr16033=) rs760816246 0.00001
NM_001267550.2(TTN):c.48119G>A (p.Arg16040His) rs956699957 0.00001
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser) rs534426018 0.00001
NM_001267550.2(TTN):c.48331G>A (p.Asp16111Asn) rs769898196 0.00001
NM_001267550.2(TTN):c.48337G>A (p.Glu16113Lys) rs548275593 0.00001
NM_001267550.2(TTN):c.48409C>T (p.Pro16137Ser) rs879009898 0.00001
NM_001267550.2(TTN):c.48461C>T (p.Thr16154Met) rs771120250 0.00001
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu) rs1429263816 0.00001
NM_001267550.2(TTN):c.48545A>C (p.Asp16182Ala) rs762913484 0.00001
NM_001267550.2(TTN):c.48560T>G (p.Ile16187Ser) rs777279411 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.48842C>T (p.Thr16281Ile) rs1553703631 0.00001
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile) rs754110019 0.00001
NM_001267550.2(TTN):c.49016G>A (p.Arg16339Gln) rs558487304 0.00001
NM_001267550.2(TTN):c.4903A>G (p.Lys1635Glu) rs776274777 0.00001
NM_001267550.2(TTN):c.49126C>T (p.Arg16376Cys) rs772152172 0.00001
NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys) rs764682084 0.00001
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys) rs397517596 0.00001
NM_001267550.2(TTN):c.49396G>A (p.Ala16466Thr) rs755998484 0.00001
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser) rs879180534 0.00001
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile) rs774495753 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.49834C>T (p.Leu16612Phe) rs750840061 0.00001
NM_001267550.2(TTN):c.49837C>G (p.Pro16613Ala) rs1468557688 0.00001
NM_001267550.2(TTN):c.4995G>A (p.Gly1665=) rs755324231 0.00001
NM_001267550.2(TTN):c.49978G>A (p.Val16660Ile) rs757016105 0.00001
NM_001267550.2(TTN):c.49988T>C (p.Ile16663Thr) rs774556838 0.00001
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys) rs140494897 0.00001
NM_001267550.2(TTN):c.50148T>A (p.Thr16716=) rs374138859 0.00001
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr) rs950940404 0.00001
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599 0.00001
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn) rs794729239 0.00001
NM_001267550.2(TTN):c.50538T>C (p.Ile16846=) rs763711863 0.00001
NM_001267550.2(TTN):c.50549_50551+5dup rs1060500453 0.00001
NM_001267550.2(TTN):c.50554C>T (p.Pro16852Ser) rs752660748 0.00001
NM_001267550.2(TTN):c.5080C>T (p.Leu1694Phe) rs769798880 0.00001
NM_001267550.2(TTN):c.50905G>C (p.Gly16969Arg) rs878854314 0.00001
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn) rs755153359 0.00001
NM_001267550.2(TTN):c.51055C>T (p.Arg17019Cys) rs773394284 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg) rs757728544 0.00001
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu) rs764792715 0.00001
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892 0.00001
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser) rs759285989 0.00001
NM_001267550.2(TTN):c.51593A>G (p.Asn17198Ser) rs766535854 0.00001
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys) rs1060500503 0.00001
NM_001267550.2(TTN):c.51823C>T (p.Pro17275Ser) rs752852690 0.00001
NM_001267550.2(TTN):c.52032T>C (p.His17344=) rs374254751 0.00001
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp) rs759091835 0.00001
NM_001267550.2(TTN):c.52135G>C (p.Glu17379Gln) rs770795675 0.00001
NM_001267550.2(TTN):c.52243G>A (p.Asp17415Asn) rs397517609 0.00001
NM_001267550.2(TTN):c.52304T>A (p.Leu17435Gln) rs1060500542 0.00001
NM_001267550.2(TTN):c.52313G>A (p.Gly17438Glu) rs1356720044 0.00001
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) rs372618781 0.00001
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His) rs886055267 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.52595A>G (p.Asp17532Gly) rs1401966542 0.00001
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556 0.00001
NM_001267550.2(TTN):c.53002+4C>G rs947716496 0.00001
NM_001267550.2(TTN):c.53095C>T (p.Arg17699Cys) rs760963888 0.00001
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys) rs369001587 0.00001
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln) rs766817830 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612 0.00001
NM_001267550.2(TTN):c.53402T>C (p.Ile17801Thr) rs370929667 0.00001
NM_001267550.2(TTN):c.53569G>A (p.Val17857Ile) rs1423994048 0.00001
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys) rs1016726284 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys) rs201052994 0.00001
NM_001267550.2(TTN):c.53839G>A (p.Glu17947Lys) rs1445321949 0.00001
NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys) rs369438623 0.00001
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys) rs554701601 0.00001
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg) rs764772164 0.00001
NM_001267550.2(TTN):c.54697G>A (p.Val18233Ile) rs374996996 0.00001
NM_001267550.2(TTN):c.54698T>A (p.Val18233Asp) rs1060500469 0.00001
NM_001267550.2(TTN):c.54700C>A (p.Pro18234Thr) rs1060500416 0.00001
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His) rs750125113 0.00001
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) rs368858337 0.00001
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met) rs761825854 0.00001
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser) rs1162176452 0.00001
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser) rs774591174 0.00001
NM_001267550.2(TTN):c.55228T>C (p.Ser18410Pro) rs778636992 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55291G>A (p.Glu18431Lys) rs756341923 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.55432+3A>G rs1439287309 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn) rs757839460 0.00001
NM_001267550.2(TTN):c.55727C>T (p.Pro18576Leu) rs1362095957 0.00001
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr) rs727503597 0.00001
NM_001267550.2(TTN):c.55910G>A (p.Arg18637His) rs758627195 0.00001
NM_001267550.2(TTN):c.56050T>C (p.Cys18684Arg) rs761599633 0.00001
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly) rs777956655 0.00001
NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) rs772767570 0.00001
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu) rs745311218 0.00001
NM_001267550.2(TTN):c.56362C>T (p.Pro18788Ser) rs1363268909 0.00001
NM_001267550.2(TTN):c.56433T>C (p.Asp18811=) rs771353550 0.00001
NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg) rs371437953 0.00001
NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr) rs886042564 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.56653C>T (p.Pro18885Ser) rs747971851 0.00001
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro) rs780258242 0.00001
NM_001267550.2(TTN):c.5683C>T (p.His1895Tyr) rs794729577 0.00001
NM_001267550.2(TTN):c.56963-3C>T rs375979145 0.00001
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val) rs876658068 0.00001
NM_001267550.2(TTN):c.5722G>A (p.Gly1908Ser) rs964474432 0.00001
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe) rs727505347 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys) rs375305621 0.00001
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn) rs1009412718 0.00001
NM_001267550.2(TTN):c.57544+4A>G rs869312053 0.00001
NM_001267550.2(TTN):c.5761A>G (p.Ile1921Val) rs879100565 0.00001
NM_001267550.2(TTN):c.57635G>A (p.Gly19212Glu) rs761511119 0.00001
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val) rs56025724 0.00001
NM_001267550.2(TTN):c.5785A>T (p.Ile1929Phe) rs748917796 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001267550.2(TTN):c.58105A>G (p.Lys19369Glu) rs759447234 0.00001
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys) rs747895202 0.00001
NM_001267550.2(TTN):c.58207G>C (p.Ala19403Pro) rs545185154 0.00001
NM_001267550.2(TTN):c.58295G>A (p.Arg19432His) rs745631866 0.00001
NM_001267550.2(TTN):c.583+5G>A rs397517663 0.00001
NM_001267550.2(TTN):c.58371C>T (p.Tyr19457=) rs749167827 0.00001
NM_001267550.2(TTN):c.58447C>G (p.Pro19483Ala) rs367624056 0.00001
NM_001267550.2(TTN):c.5851G>A (p.Val1951Ile) rs765382880 0.00001
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys) rs746319976 0.00001
NM_001267550.2(TTN):c.58616G>T (p.Cys19539Phe) rs539868284 0.00001
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln) rs543279513 0.00001
NM_001267550.2(TTN):c.5867A>G (p.Lys1956Arg) rs1554006239 0.00001
NM_001267550.2(TTN):c.58720A>G (p.Lys19574Glu) rs1032128606 0.00001
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala) rs1215190215 0.00001
NM_001267550.2(TTN):c.59173G>A (p.Glu19725Lys) rs767601396 0.00001
NM_001267550.2(TTN):c.59294A>T (p.Glu19765Val) rs766141647 0.00001
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) rs771610118 0.00001
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly) rs1016296280 0.00001
NM_001267550.2(TTN):c.59858C>T (p.Ala19953Val) rs754149259 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60033A>C (p.Gly20011=) rs761455000 0.00001
NM_001267550.2(TTN):c.60059G>A (p.Gly20020Asp) rs1430427636 0.00001
NM_001267550.2(TTN):c.60062C>T (p.Thr20021Ile) rs760706351 0.00001
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe) rs774488793 0.00001
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala) rs886039085 0.00001
NM_001267550.2(TTN):c.60302T>C (p.Ile20101Thr) rs777610858 0.00001
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met) rs727504208 0.00001
NM_001267550.2(TTN):c.60407T>A (p.Leu20136His) rs1060500492 0.00001
NM_001267550.2(TTN):c.6043G>A (p.Ala2015Thr) rs776534823 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met) rs375155937 0.00001
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg) rs778953994 0.00001
NM_001267550.2(TTN):c.60934G>A (p.Glu20312Lys) rs759127797 0.00001
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp) rs765839032 0.00001
NM_001267550.2(TTN):c.61048C>T (p.Leu20350Phe) rs1162158537 0.00001
NM_001267550.2(TTN):c.61073C>T (p.Pro20358Leu) rs751194376 0.00001
NM_001267550.2(TTN):c.61075A>G (p.Ser20359Gly) rs762408700 0.00001
NM_001267550.2(TTN):c.61224G>A (p.Val20408=) rs566188777 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.61488T>G (p.Ile20496Met) rs886042497 0.00001
NM_001267550.2(TTN):c.61645A>G (p.Ile20549Val) rs750680415 0.00001
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys) rs371014957 0.00001
NM_001267550.2(TTN):c.61813A>G (p.Ile20605Val) rs759096564 0.00001
NM_001267550.2(TTN):c.61814T>C (p.Ile20605Thr) rs140252432 0.00001
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu) rs759437501 0.00001
NM_001267550.2(TTN):c.62057A>G (p.Tyr20686Cys) rs755470129 0.00001
NM_001267550.2(TTN):c.62214T>G (p.Ile20738Met) rs1388003753 0.00001
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.62467C>T (p.Arg20823Cys) rs779686013 0.00001
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val) rs369388581 0.00001
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val) rs1060500518 0.00001
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met) rs371004819 0.00001
NM_001267550.2(TTN):c.62609A>C (p.Asn20870Thr) rs376338324 0.00001
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala) rs538308579 0.00001
NM_001267550.2(TTN):c.62696A>G (p.Tyr20899Cys) rs564111693 0.00001
NM_001267550.2(TTN):c.62699T>C (p.Ile20900Thr) rs770522021 0.00001
NM_001267550.2(TTN):c.62732G>C (p.Trp20911Ser) rs1243863753 0.00001
NM_001267550.2(TTN):c.62779C>T (p.Arg20927Cys) rs547604540 0.00001
NM_001267550.2(TTN):c.62848A>G (p.Thr20950Ala) rs748774963 0.00001
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys) rs767887086 0.00001
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His) rs1174185176 0.00001
NM_001267550.2(TTN):c.63131T>C (p.Ile21044Thr) rs529879601 0.00001
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg) rs547169244 0.00001
NM_001267550.2(TTN):c.63187+3A>C rs948908180 0.00001
NM_001267550.2(TTN):c.63187+5G>T rs1292388582 0.00001
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile) rs972090108 0.00001
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe) rs547033801 0.00001
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His) rs201226615 0.00001
NM_001267550.2(TTN):c.63527T>C (p.Leu21176Ser) rs72646854 0.00001
NM_001267550.2(TTN):c.63535A>G (p.Ser21179Gly) rs772529311 0.00001
NM_001267550.2(TTN):c.63559A>G (p.Arg21187Gly) rs368288863 0.00001
NM_001267550.2(TTN):c.6358C>T (p.Arg2120Trp) rs116158152 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) rs753121509 0.00001
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly) rs1218513536 0.00001
NM_001267550.2(TTN):c.64088C>G (p.Pro21363Arg) rs781561933 0.00001
NM_001267550.2(TTN):c.64453C>A (p.Arg21485=) rs768345594 0.00001
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln) rs746903647 0.00001
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr) rs752724337 0.00001
NM_001267550.2(TTN):c.64615C>T (p.Leu21539Phe) rs1060500431 0.00001
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met) rs765913263 0.00001
NM_001267550.2(TTN):c.64887G>C (p.Glu21629Asp) rs779232091 0.00001
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp) rs749576292 0.00001
NM_001267550.2(TTN):c.64933C>T (p.Pro21645Ser) rs1553632774 0.00001
NM_001267550.2(TTN):c.64973-12C>G rs918265990 0.00001
NM_001267550.2(TTN):c.65022C>T (p.Asp21674=) rs866763453 0.00001
NM_001267550.2(TTN):c.65168G>A (p.Gly21723Asp) rs371802736 0.00001
NM_001267550.2(TTN):c.65179G>A (p.Gly21727Ser) rs756099303 0.00001
NM_001267550.2(TTN):c.6517T>G (p.Leu2173Val) rs760798049 0.00001
NM_001267550.2(TTN):c.65182C>G (p.Leu21728Val) rs781121273 0.00001
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr) rs727503580 0.00001
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg) rs886038921 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=) rs1246746665 0.00001
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg) rs373636513 0.00001
NM_001267550.2(TTN):c.6587G>A (p.Cys2196Tyr) rs878854326 0.00001
NM_001267550.2(TTN):c.66067G>A (p.Gly22023Ser) rs1060500452 0.00001
NM_001267550.2(TTN):c.66085C>T (p.Arg22029Cys) rs769739080 0.00001
NM_001267550.2(TTN):c.6612A>T (p.Lys2204Asn) rs1060500448 0.00001
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr) rs368042545 0.00001
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313 0.00001
NM_001267550.2(TTN):c.662T>C (p.Ile221Thr) rs781543487 0.00001
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln) rs781750042 0.00001
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu) rs777364605 0.00001
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys) rs879016147 0.00001
NM_001267550.2(TTN):c.66552C>T (p.Gly22184=) rs146502705 0.00001
NM_001267550.2(TTN):c.66628C>A (p.Gln22210Lys) rs757047748 0.00001
NM_001267550.2(TTN):c.66668T>C (p.Met22223Thr) rs752794705 0.00001
NM_001267550.2(TTN):c.66669G>A (p.Met22223Ile) rs1049450842 0.00001
NM_001267550.2(TTN):c.66691C>T (p.Arg22231Cys) rs760026147 0.00001
NM_001267550.2(TTN):c.66723T>G (p.Ser22241Arg) rs778956602 0.00001
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met) rs1393150545 0.00001
NM_001267550.2(TTN):c.66769+4A>G rs368682419 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66786A>T (p.Glu22262Asp) rs1022562370 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.67001T>C (p.Leu22334Ser) rs758106978 0.00001
NM_001267550.2(TTN):c.67048A>C (p.Lys22350Gln) rs1370592733 0.00001
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu) rs764048936 0.00001
NM_001267550.2(TTN):c.67063C>T (p.Pro22355Ser) rs794729481 0.00001
NM_001267550.2(TTN):c.67118T>A (p.Val22373Asp) rs774568339 0.00001
NM_001267550.2(TTN):c.67153C>T (p.Pro22385Ser) rs781562260 0.00001
NM_001267550.2(TTN):c.67208C>T (p.Thr22403Ile) rs767363142 0.00001
NM_001267550.2(TTN):c.67226C>T (p.Ser22409Phe) rs1296710770 0.00001
NM_001267550.2(TTN):c.67300T>A (p.Tyr22434Asn) rs1553623044 0.00001
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His) rs1389670032 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.67348+5G>A rs765587170 0.00001
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His) rs144295295 0.00001
NM_001267550.2(TTN):c.67989A>T (p.Leu22663Phe) rs1485610846 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68224+3A>G rs1006017098 0.00001
NM_001267550.2(TTN):c.68248C>T (p.Pro22750Ser) rs764562311 0.00001
NM_001267550.2(TTN):c.68252A>G (p.Asn22751Ser) rs761226149 0.00001
NM_001267550.2(TTN):c.68285T>C (p.Leu22762Pro) rs1359881893 0.00001
NM_001267550.2(TTN):c.6835C>G (p.Pro2279Ala) rs143679901 0.00001
NM_001267550.2(TTN):c.6845A>C (p.Tyr2282Ser) rs754307416 0.00001
NM_001267550.2(TTN):c.68528-8T>C rs746223377 0.00001
NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys) rs373765319 0.00001
NM_001267550.2(TTN):c.68678A>G (p.His22893Arg) rs1039583705 0.00001
NM_001267550.2(TTN):c.68728G>A (p.Gly22910Arg) rs794729245 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro) rs879410317 0.00001
NM_001267550.2(TTN):c.69175C>T (p.Leu23059Phe) rs1394979272 0.00001
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu) rs953796748 0.00001
NM_001267550.2(TTN):c.69458A>C (p.Lys23153Thr) rs879119970 0.00001
NM_001267550.2(TTN):c.69515C>T (p.Thr23172Ile) rs752643010 0.00001
NM_001267550.2(TTN):c.69731C>T (p.Pro23244Leu) rs879056292 0.00001
NM_001267550.2(TTN):c.6979G>T (p.Asp2327Tyr) rs1554002409 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 0.00001
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00001
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser) rs756468956 0.00001
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.70045G>A (p.Glu23349Lys) rs397517682 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 0.00001
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly) rs1194442496 0.00001
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met) rs397517683 0.00001
NM_001267550.2(TTN):c.70240G>T (p.Val23414Phe) rs759158138 0.00001
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70282G>T (p.Val23428Leu) rs794729486 0.00001
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val) rs549938348 0.00001
NM_001267550.2(TTN):c.70564G>A (p.Glu23522Lys) rs561586925 0.00001
NM_001267550.2(TTN):c.70595C>T (p.Ala23532Val) rs1389381134 0.00001
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met) rs754040141 0.00001
NM_001267550.2(TTN):c.70784T>C (p.Leu23595Pro) rs886055249 0.00001
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr) rs794729488 0.00001
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu) rs1060500459 0.00001
NM_001267550.2(TTN):c.71132T>C (p.Ile23711Thr) rs752317656 0.00001
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys) rs754516257 0.00001
NM_001267550.2(TTN):c.71368C>T (p.Arg23790Cys) rs775743818 0.00001
NM_001267550.2(TTN):c.71553T>A (p.Leu23851=) rs373388052 0.00001
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912 0.00001
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn) rs771783837 0.00001
NM_001267550.2(TTN):c.71729G>A (p.Ser23910Asn) rs1060500509 0.00001
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp) rs748041610 0.00001
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr) rs1386956312 0.00001
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu) rs919790172 0.00001
NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile) rs727504188 0.00001
NM_001267550.2(TTN):c.7246G>A (p.Asp2416Asn) rs1383990376 0.00001
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys) rs778284888 0.00001
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly) rs773021696 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.72785G>A (p.Arg24262His) rs372390659 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001267550.2(TTN):c.72863C>G (p.Thr24288Arg) rs878997916 0.00001
NM_001267550.2(TTN):c.72994G>T (p.Val24332Phe) rs876658081 0.00001
NM_001267550.2(TTN):c.73021T>G (p.Ser24341Ala) rs1397935154 0.00001
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val) rs1051443527 0.00001
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu) rs376041680 0.00001
NM_001267550.2(TTN):c.73258G>A (p.Glu24420Lys) rs1265445775 0.00001
NM_001267550.2(TTN):c.73416A>C (p.Lys24472Asn) rs1239070012 0.00001
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly) rs573355547 0.00001
NM_001267550.2(TTN):c.73930G>A (p.Gly24644Arg) rs1553606142 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His) rs376988498 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.74189G>A (p.Gly24730Asp) rs781046518 0.00001
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys) rs369489704 0.00001
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln) rs776673912 0.00001
NM_001267550.2(TTN):c.74482C>G (p.Leu24828Val) rs375181431 0.00001
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) rs765512476 0.00001
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu) rs531281558 0.00001
NM_001267550.2(TTN):c.75016C>T (p.Pro25006Ser) rs1264279589 0.00001
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln) rs369559000 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.75155G>A (p.Arg25052His) rs542720402 0.00001
NM_001267550.2(TTN):c.75158G>C (p.Trp25053Ser) rs748412838 0.00001
NM_001267550.2(TTN):c.7516C>G (p.Arg2506Gly) rs780415493 0.00001
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln) rs758719859 0.00001
NM_001267550.2(TTN):c.75238C>T (p.Arg25080Trp) rs1370877041 0.00001
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln) rs757674072 0.00001
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys) rs116049561 0.00001
NM_001267550.2(TTN):c.75366G>A (p.Val25122=) rs750424357 0.00001
NM_001267550.2(TTN):c.75378T>A (p.Gly25126=) rs886055246 0.00001
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys) rs368339903 0.00001
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=) rs770708534 0.00001
NM_001267550.2(TTN):c.75934G>A (p.Glu25312Lys) rs770655678 0.00001
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) rs201776072 0.00001
NM_001267550.2(TTN):c.75983C>T (p.Pro25328Leu) rs758581188 0.00001
NM_001267550.2(TTN):c.7600A>G (p.Lys2534Glu) rs767167863 0.00001
NM_001267550.2(TTN):c.76030C>T (p.Arg25344Trp) rs371696090 0.00001
NM_001267550.2(TTN):c.76064A>G (p.His25355Arg) rs1399292028 0.00001
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys) rs757511354 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.76168C>T (p.Pro25390Ser) rs878948198 0.00001
NM_001267550.2(TTN):c.76238A>G (p.Lys25413Arg) rs367696053 0.00001
NM_001267550.2(TTN):c.76483G>A (p.Val25495Ile) rs773127796 0.00001
NM_001267550.2(TTN):c.76541T>C (p.Leu25514Pro) rs1553601755 0.00001
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) rs376185524 0.00001
NM_001267550.2(TTN):c.76577G>A (p.Gly25526Asp) rs369344156 0.00001
NM_001267550.2(TTN):c.76672G>T (p.Asp25558Tyr) rs750336110 0.00001
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr) rs747031357 0.00001
NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val) rs760386525 0.00001
NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp) rs886042780 0.00001
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala) rs370768049 0.00001
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys) rs755800765 0.00001
NM_001267550.2(TTN):c.77035A>C (p.Asn25679His) rs770512378 0.00001
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met) rs755225678 0.00001
NM_001267550.2(TTN):c.77188A>G (p.Ile25730Val) rs745981754 0.00001
NM_001267550.2(TTN):c.77329A>G (p.Lys25777Glu) rs778484596 0.00001
NM_001267550.2(TTN):c.77510C>T (p.Pro25837Leu) rs752618930 0.00001
NM_001267550.2(TTN):c.77540C>T (p.Thr25847Ile) rs917984063 0.00001
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile) rs886055245 0.00001
NM_001267550.2(TTN):c.77623G>A (p.Val25875Ile) rs763284241 0.00001
NM_001267550.2(TTN):c.77639C>T (p.Thr25880Ile) rs1332594097 0.00001
NM_001267550.2(TTN):c.77649C>T (p.Ile25883=) rs747430905 0.00001
NM_001267550.2(TTN):c.77652A>T (p.Glu25884Asp) rs748940985 0.00001
NM_001267550.2(TTN):c.77781T>G (p.Ile25927Met) rs1226545466 0.00001
NM_001267550.2(TTN):c.7781T>C (p.Met2594Thr) rs764016233 0.00001
NM_001267550.2(TTN):c.77821G>A (p.Val25941Ile) rs928158833 0.00001
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp) rs745801476 0.00001
NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile) rs794729506 0.00001
NM_001267550.2(TTN):c.7818G>A (p.Ala2606=) rs935809232 0.00001
NM_001267550.2(TTN):c.78231C>A (p.Ser26077Arg) rs1553596375 0.00001
NM_001267550.2(TTN):c.78382C>T (p.Arg26128Cys) rs373530641 0.00001
NM_001267550.2(TTN):c.78577A>C (p.Ile26193Leu) rs727505241 0.00001
NM_001267550.2(TTN):c.78654T>C (p.His26218=) rs886055244 0.00001
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=) rs375454098 0.00001
NM_001267550.2(TTN):c.79145A>C (p.Asn26382Thr) rs727505049 0.00001
NM_001267550.2(TTN):c.79264A>G (p.Ile26422Val) rs1553590996 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) rs775053902 0.00001
NM_001267550.2(TTN):c.79640G>A (p.Arg26547Gln) rs771534555 0.00001
NM_001267550.2(TTN):c.79768C>T (p.Pro26590Ser) rs767838835 0.00001
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln) rs727504673 0.00001
NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile) rs375605062 0.00001
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) rs761074887 0.00001
NM_001267550.2(TTN):c.80170G>A (p.Glu26724Lys) rs367812761 0.00001
NM_001267550.2(TTN):c.80185G>C (p.Ala26729Pro) rs1252013447 0.00001
NM_001267550.2(TTN):c.8018A>G (p.Lys2673Arg) rs1060500389 0.00001
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00001
NM_001267550.2(TTN):c.80399T>C (p.Met26800Thr) rs761384994 0.00001
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala) rs370095455 0.00001
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln) rs898433512 0.00001
NM_001267550.2(TTN):c.80704C>T (p.Pro26902Ser) rs1024262797 0.00001
NM_001267550.2(TTN):c.80726C>T (p.Pro26909Leu) rs1553581878 0.00001
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile) rs780885076 0.00001
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser) rs780082683 0.00001
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=) rs539234338 0.00001
NM_001267550.2(TTN):c.80923C>A (p.Pro26975Thr) rs1283579585 0.00001
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala) rs373857878 0.00001
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val) rs369908251 0.00001
NM_001267550.2(TTN):c.81347G>A (p.Ser27116Asn) rs1234317183 0.00001
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg) rs727504678 0.00001
NM_001267550.2(TTN):c.81523G>A (p.Gly27175Ser) rs749305586 0.00001
NM_001267550.2(TTN):c.81653T>C (p.Met27218Thr) rs1332904652 0.00001
NM_001267550.2(TTN):c.82019T>A (p.Ile27340Lys) rs371592971 0.00001
NM_001267550.2(TTN):c.82021C>T (p.Arg27341Trp) rs746488250 0.00001
NM_001267550.2(TTN):c.82060G>A (p.Val27354Ile) rs878854336 0.00001
NM_001267550.2(TTN):c.82064G>A (p.Gly27355Asp) rs1474733241 0.00001
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg) rs754175266 0.00001
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val) rs886039181 0.00001
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys) rs774715672 0.00001
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) rs886055240 0.00001
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) rs769678793 0.00001
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) rs886055239 0.00001
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg) rs937111656 0.00001
NM_001267550.2(TTN):c.82457T>C (p.Met27486Thr) rs746435098 0.00001
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) rs775673876 0.00001
NM_001267550.2(TTN):c.82561A>G (p.Lys27521Glu) rs1060500417 0.00001
NM_001267550.2(TTN):c.82616C>G (p.Ser27539Cys) rs727503556 0.00001
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) rs72648214 0.00001
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00001
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met) rs748535477 0.00001
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His) rs766522109 0.00001
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) rs373745130 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln) rs776136653 0.00001
NM_001267550.2(TTN):c.83218G>A (p.Asp27740Asn) rs776130801 0.00001
NM_001267550.2(TTN):c.83227C>T (p.Arg27743Trp) rs1185542536 0.00001
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln) rs768262273 0.00001
NM_001267550.2(TTN):c.83252A>G (p.Asn27751Ser) rs775527437 0.00001
NM_001267550.2(TTN):c.83351C>T (p.Thr27784Met) rs140879454 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.83543T>C (p.Ile27848Thr) rs397517723 0.00001
NM_001267550.2(TTN):c.83629C>T (p.Arg27877Cys) rs527624888 0.00001
NM_001267550.2(TTN):c.83649G>C (p.Lys27883Asn) rs878854337 0.00001
NM_001267550.2(TTN):c.83827G>A (p.Gly27943Arg) rs886055236 0.00001
NM_001267550.2(TTN):c.83979T>C (p.Thr27993=) rs755164013 0.00001
NM_001267550.2(TTN):c.83984A>C (p.Asn27995Thr) rs751728774 0.00001
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189 0.00001
NM_001267550.2(TTN):c.84011A>G (p.Lys28004Arg) rs776987640 0.00001
NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val) rs900858263 0.00001
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) rs539595292 0.00001
NM_001267550.2(TTN):c.84335C>T (p.Thr28112Ile) rs1429490203 0.00001
NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr) rs1468127080 0.00001
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser) rs727505053 0.00001
NM_001267550.2(TTN):c.84443C>G (p.Ala28148Gly) rs751860205 0.00001
NM_001267550.2(TTN):c.84497C>T (p.Ala28166Val) rs1553564661 0.00001
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys) rs879123930 0.00001
NM_001267550.2(TTN):c.84650C>T (p.Ser28217Phe) rs888839405 0.00001
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys) rs776756769 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala) rs147895770 0.00001
NM_001267550.2(TTN):c.85036A>C (p.Ile28346Leu) rs912296403 0.00001
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp) rs770787056 0.00001
NM_001267550.2(TTN):c.85204G>A (p.Ala28402Thr) rs1060500439 0.00001
NM_001267550.2(TTN):c.85328T>A (p.Val28443Asp) rs1703365236 0.00001
NM_001267550.2(TTN):c.85383T>C (p.Asn28461=) rs886055235 0.00001
NM_001267550.2(TTN):c.85649T>A (p.Val28550Asp) rs727505194 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.86009T>C (p.Ile28670Thr) rs1703105655 0.00001
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00001
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) rs886055233 0.00001
NM_001267550.2(TTN):c.8648A>G (p.His2883Arg) rs753833148 0.00001
NM_001267550.2(TTN):c.864C>T (p.His288=) rs772543040 0.00001
NM_001267550.2(TTN):c.86821+3A>G rs1010541689 0.00001
NM_001267550.2(TTN):c.86836C>G (p.Pro28946Ala) rs748587720 0.00001
NM_001267550.2(TTN):c.86846T>C (p.Leu28949Pro) rs745542033 0.00001
NM_001267550.2(TTN):c.87001G>A (p.Val29001Ile) rs750591986 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr) rs768120552 0.00001
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met) rs369380469 0.00001
NM_001267550.2(TTN):c.87387C>G (p.Phe29129Leu) rs1335641292 0.00001
NM_001267550.2(TTN):c.87836G>C (p.Arg29279Thr) rs773541746 0.00001
NM_001267550.2(TTN):c.88009+5G>A rs148231754 0.00001
NM_001267550.2(TTN):c.88063T>C (p.Ser29355Pro) rs768443497 0.00001
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys) rs756679529 0.00001
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys) rs727505102 0.00001
NM_001267550.2(TTN):c.88163C>T (p.Thr29388Ile) rs775200192 0.00001
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His) rs143193258 0.00001
NM_001267550.2(TTN):c.88667G>A (p.Arg29556Gln) rs1207034709 0.00001
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln) rs755212831 0.00001
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp) rs750981091 0.00001
NM_001267550.2(TTN):c.88933A>T (p.Ile29645Phe) rs746067385 0.00001
NM_001267550.2(TTN):c.88992T>C (p.Asp29664=) rs201658018 0.00001
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn) rs794729525 0.00001
NM_001267550.2(TTN):c.89114A>G (p.Gln29705Arg) rs752538734 0.00001
NM_001267550.2(TTN):c.89170G>A (p.Glu29724Lys) rs370918981 0.00001
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala) rs1454670479 0.00001
NM_001267550.2(TTN):c.8921T>C (p.Met2974Thr) rs899464143 0.00001
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp) rs112777680 0.00001
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) rs201620815 0.00001
NM_001267550.2(TTN):c.8954C>G (p.Thr2985Ser) rs1553992057 0.00001
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp) rs774885355 0.00001
NM_001267550.2(TTN):c.89628T>G (p.Asp29876Glu) rs397517743 0.00001
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe) rs180798672 0.00001
NM_001267550.2(TTN):c.8987G>T (p.Gly2996Val) rs779053650 0.00001
NM_001267550.2(TTN):c.89924C>T (p.Ala29975Val) rs117097948 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu) rs1359003253 0.00001
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys) rs397517747 0.00001
NM_001267550.2(TTN):c.90149G>C (p.Ser30050Thr) rs752534032 0.00001
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) rs886039117 0.00001
NM_001267550.2(TTN):c.90161C>T (p.Pro30054Leu) rs767891763 0.00001
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del) rs758914867 0.00001
NM_001267550.2(TTN):c.90441C>A (p.His30147Gln) rs72648242 0.00001
NM_001267550.2(TTN):c.90652A>G (p.Thr30218Ala) rs768528782 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91022T>A (p.Met30341Lys) rs1379791737 0.00001
NM_001267550.2(TTN):c.91160C>T (p.Thr30387Ile) rs754591100 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.91277C>T (p.Pro30426Leu) rs774454485 0.00001
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp) rs751610164 0.00001
NM_001267550.2(TTN):c.91361T>C (p.Ile30454Thr) rs878985220 0.00001
NM_001267550.2(TTN):c.91385G>A (p.Arg30462Gln) rs794729529 0.00001
NM_001267550.2(TTN):c.91475A>G (p.Tyr30492Cys) rs769678577 0.00001
NM_001267550.2(TTN):c.91536T>A (p.Ser30512=) rs769873625 0.00001
NM_001267550.2(TTN):c.9163+3A>G rs760597240 0.00001
NM_001267550.2(TTN):c.9164-9del rs752677873 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.91879A>G (p.Ile30627Val) rs535151633 0.00001
NM_001267550.2(TTN):c.91915C>G (p.Leu30639Val) rs373049260 0.00001
NM_001267550.2(TTN):c.9200T>C (p.Ile3067Thr) rs1435097269 0.00001
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095 0.00001
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys) rs376537509 0.00001
NM_001267550.2(TTN):c.92381A>G (p.His30794Arg) rs773998423 0.00001
NM_001267550.2(TTN):c.92449G>C (p.Glu30817Gln) rs529196025 0.00001
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile) rs376287060 0.00001
NM_001267550.2(TTN):c.92520A>T (p.Leu30840Phe) rs772574748 0.00001
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg) rs1206527 0.00001
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr) rs1045877862 0.00001
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr) rs777150584 0.00001
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp) rs754767262 0.00001
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu) rs148676491 0.00001
NM_001267550.2(TTN):c.9305+4A>C rs746628782 0.00001
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln) rs766391515 0.00001
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val) rs1023137329 0.00001
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=) rs1280272876 0.00001
NM_001267550.2(TTN):c.93576T>C (p.Ala31192=) rs377521708 0.00001
NM_001267550.2(TTN):c.93683A>G (p.Lys31228Arg) rs368714667 0.00001
NM_001267550.2(TTN):c.93866C>A (p.Thr31289Asn) rs371666313 0.00001
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly) rs201344229 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser) rs751185223 0.00001
NM_001267550.2(TTN):c.94157A>C (p.Glu31386Ala) rs772833696 0.00001
NM_001267550.2(TTN):c.94187A>C (p.Glu31396Ala) rs768420352 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.9449G>A (p.Arg3150Gln) rs141093658 0.00001
NM_001267550.2(TTN):c.94502T>C (p.Ile31501Thr) rs758756316 0.00001
NM_001267550.2(TTN):c.94559G>A (p.Arg31520Lys) rs879111902 0.00001
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) rs764363274 0.00001
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His) rs920039018 0.00001
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala) rs369870689 0.00001
NM_001267550.2(TTN):c.94773C>T (p.Gly31591=) rs897518524 0.00001
NM_001267550.2(TTN):c.94807G>T (p.Val31603Phe) rs1060500567 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.94985T>A (p.Val31662Asp) rs1164809267 0.00001
NM_001267550.2(TTN):c.9502T>G (p.Phe3168Val) rs746038856 0.00001
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=) rs746787955 0.00001
NM_001267550.2(TTN):c.95111A>G (p.Lys31704Arg) rs754379972 0.00001
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His) rs1360232560 0.00001
NM_001267550.2(TTN):c.9520G>A (p.Asp3174Asn) rs984157404 0.00001
NM_001267550.2(TTN):c.95219T>C (p.Ile31740Thr) rs200781956 0.00001
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly) rs886042114 0.00001
NM_001267550.2(TTN):c.95281G>A (p.Glu31761Lys) rs727505342 0.00001
NM_001267550.2(TTN):c.95368C>T (p.Pro31790Ser) rs1235693684 0.00001
NM_001267550.2(TTN):c.95413T>C (p.Phe31805Leu) rs537065526 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95497T>A (p.Ser31833Thr) rs764271138 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95562G>C (p.Trp31854Cys) rs752756889 0.00001
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg) rs757129504 0.00001
NM_001267550.2(TTN):c.95645G>A (p.Arg31882Gln) rs767746607 0.00001
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser) rs199618831 0.00001
NM_001267550.2(TTN):c.95765C>G (p.Thr31922Ser) rs769771566 0.00001
NM_001267550.2(TTN):c.95824G>A (p.Val31942Ile) rs757627281 0.00001
NM_001267550.2(TTN):c.95829A>G (p.Gly31943=) rs572618111 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu) rs368323634 0.00001
NM_001267550.2(TTN):c.96462A>G (p.Thr32154=) rs776263585 0.00001
NM_001267550.2(TTN):c.96592C>G (p.Leu32198Val) rs752075170 0.00001
NM_001267550.2(TTN):c.96685G>A (p.Asp32229Asn) rs770101398 0.00001
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln) rs755082341 0.00001
NM_001267550.2(TTN):c.96715C>T (p.Leu32239Phe) rs889392294 0.00001
NM_001267550.2(TTN):c.96782A>G (p.Glu32261Gly) rs1060500578 0.00001
NM_001267550.2(TTN):c.96931A>G (p.Met32311Val) rs727504981 0.00001
NM_001267550.2(TTN):c.97003C>T (p.Pro32335Ser) rs779886174 0.00001
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys) rs727504879 0.00001
NM_001267550.2(TTN):c.97112T>G (p.Ile32371Ser) rs748682168 0.00001
NM_001267550.2(TTN):c.97192+4A>G rs370069759 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001267550.2(TTN):c.971C>T (p.Pro324Leu) rs939333996 0.00001
NM_001267550.2(TTN):c.97319G>A (p.Arg32440His) rs750047570 0.00001
NM_001267550.2(TTN):c.97405G>A (p.Glu32469Lys) rs1280768790 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001267550.2(TTN):c.97426G>A (p.Ala32476Thr) rs760169773 0.00001
NM_001267550.2(TTN):c.974T>C (p.Leu325Ser) rs755076118 0.00001
NM_001267550.2(TTN):c.97586C>A (p.Ser32529Tyr) rs1060500480 0.00001
NM_001267550.2(TTN):c.97612C>T (p.Arg32538Cys) rs761050391 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val) rs372075164 0.00001
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile) rs944963846 0.00001
NM_001267550.2(TTN):c.97910T>C (p.Ile32637Thr) rs794729547 0.00001
NM_001267550.2(TTN):c.97943C>A (p.Thr32648Asn) rs775309560 0.00001
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767 0.00001
NM_001267550.2(TTN):c.98169A>C (p.Arg32723Ser) rs753058072 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98237G>A (p.Ser32746Asn) rs1410694267 0.00001
NM_001267550.2(TTN):c.98278C>T (p.Leu32760Phe) rs1060500523 0.00001
NM_001267550.2(TTN):c.98426A>C (p.Gln32809Pro) rs1060500398 0.00001
NM_001267550.2(TTN):c.98615C>G (p.Ala32872Gly) rs150288160 0.00001
NM_001267550.2(TTN):c.98687C>T (p.Pro32896Leu) rs1335232513 0.00001
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly) rs760917372 0.00001
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys) rs1407053984 0.00001
NM_001267550.2(TTN):c.98867T>C (p.Met32956Thr) rs727504962 0.00001
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His) rs1018386868 0.00001
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_001267550.2(TTN):c.99062A>G (p.Lys33021Arg) rs749757136 0.00001
NM_001267550.2(TTN):c.99154C>T (p.Arg33052Cys) rs758109676 0.00001
NM_001267550.2(TTN):c.99160A>C (p.Lys33054Gln) rs1553507202 0.00001
NM_001267550.2(TTN):c.99176C>T (p.Thr33059Ile) rs1038769207 0.00001
NM_001267550.2(TTN):c.9918G>A (p.Ala3306=) rs533798702 0.00001
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile) rs1060500530 0.00001
NM_001267550.2(TTN):c.99836T>G (p.Val33279Gly) rs770098799 0.00001
NM_001267550.2(TTN):c.9983T>C (p.Val3328Ala) rs1060500412 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001267550.2(TTN):c.99913A>G (p.Lys33305Glu) rs1553503789 0.00001
NM_001289808.2(CRYAB):c.*60G>A rs540926728 0.00001
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) rs781915800 0.00001
NM_001368067.1(LDB3):c.405C>A (p.His135Gln) rs928294708 0.00001
NM_001368067.1(LDB3):c.418G>A (p.Val140Met) rs745329859 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_001368067.1(LDB3):c.455C>A (p.Ala152Glu) rs753193786 0.00001
NM_001368067.1(LDB3):c.490G>C (p.Asp164His) rs1000020884 0.00001
NM_001368067.1(LDB3):c.517C>A (p.Gln173Lys) rs1220958570 0.00001
NM_001368067.1(LDB3):c.530A>G (p.Gln177Arg) rs1310394018 0.00001
NM_001368067.1(LDB3):c.545G>A (p.Ser182Asn) rs774522659 0.00001
NM_001368067.1(LDB3):c.766G>A (p.Glu256Lys) rs774307690 0.00001
NM_001368067.1(LDB3):c.772G>C (p.Glu258Gln) rs868365512 0.00001
NM_001368067.1(LDB3):c.776G>A (p.Arg259His) rs557033441 0.00001
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_001377299.1(NDUFS2):c.1215A>G (p.Gly405=) rs886045464 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001377299.1(NDUFS2):c.162A>G (p.Pro54=) rs569128565 0.00001
NM_001378030.1(CCDC78):c.1039C>T (p.His347Tyr) rs369908634 0.00001
NM_001378030.1(CCDC78):c.1052A>G (p.Gln351Arg) rs371921917 0.00001
NM_001378030.1(CCDC78):c.1054-9C>G rs781457535 0.00001
NM_001378030.1(CCDC78):c.1060G>A (p.Gly354Arg) rs199867890 0.00001
NM_001378030.1(CCDC78):c.1112del (p.Gln371fs) rs765483630 0.00001
NM_001378030.1(CCDC78):c.1124C>G (p.Ser375Ter) rs1475409165 0.00001
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp) rs1296158476 0.00001
NM_001378030.1(CCDC78):c.1178G>A (p.Arg393Gln) rs376513788 0.00001
NM_001378030.1(CCDC78):c.1247T>C (p.Met416Thr) rs1180613590 0.00001
NM_001378030.1(CCDC78):c.1299C>A (p.Gly433=) rs1482540009 0.00001
NM_001378030.1(CCDC78):c.1302-1G>C rs764699064 0.00001
NM_001378030.1(CCDC78):c.151C>G (p.Leu51Val) rs1064794620 0.00001
NM_001378030.1(CCDC78):c.169C>A (p.Gln57Lys) rs1180264424 0.00001
NM_001378030.1(CCDC78):c.1A>G (p.Met1Val) rs768740042 0.00001
NM_001378030.1(CCDC78):c.211A>G (p.Thr71Ala) rs750616701 0.00001
NM_001378030.1(CCDC78):c.217C>T (p.His73Tyr) rs1477528084 0.00001
NM_001378030.1(CCDC78):c.238G>A (p.Glu80Lys) rs549450998 0.00001
NM_001378030.1(CCDC78):c.247A>G (p.Ile83Val) rs558878970 0.00001
NM_001378030.1(CCDC78):c.256C>G (p.Leu86Val) rs748438652 0.00001
NM_001378030.1(CCDC78):c.267+3G>A rs749827376 0.00001
NM_001378030.1(CCDC78):c.286C>T (p.Arg96Trp) rs767068294 0.00001
NM_001378030.1(CCDC78):c.307C>T (p.Arg103Ter) rs776512977 0.00001
NM_001378030.1(CCDC78):c.327G>C (p.Gln109His) rs1246634377 0.00001
NM_001378030.1(CCDC78):c.328G>T (p.Gly110Cys) rs777956994 0.00001
NM_001378030.1(CCDC78):c.344T>C (p.Val115Ala) rs779855089 0.00001
NM_001378030.1(CCDC78):c.34G>T (p.Gly12Ter) rs1014643433 0.00001
NM_001378030.1(CCDC78):c.40C>T (p.Pro14Ser) rs2040942356 0.00001
NM_001378030.1(CCDC78):c.433C>T (p.Gln145Ter) rs745710346 0.00001
NM_001378030.1(CCDC78):c.435+7A>G rs751070375 0.00001
NM_001378030.1(CCDC78):c.436-2A>G rs778608633 0.00001
NM_001378030.1(CCDC78):c.492+6T>C rs1283039950 0.00001
NM_001378030.1(CCDC78):c.509A>T (p.Lys170Met) rs1555486210 0.00001
NM_001378030.1(CCDC78):c.536G>A (p.Arg179Gln) rs560987339 0.00001
NM_001378030.1(CCDC78):c.628A>T (p.Thr210Ser) rs375138705 0.00001
NM_001378030.1(CCDC78):c.658G>A (p.Gly220Ser) rs1374522692 0.00001
NM_001378030.1(CCDC78):c.707T>C (p.Leu236Pro) rs1352546137 0.00001
NM_001378030.1(CCDC78):c.736C>G (p.Arg246Gly) rs749095737 0.00001
NM_001378030.1(CCDC78):c.760G>A (p.Ala254Thr) rs1338935088 0.00001
NM_001378030.1(CCDC78):c.763G>A (p.Val255Met) rs763349441 0.00001
NM_001378030.1(CCDC78):c.763_765+5del rs1406110108 0.00001
NM_001378030.1(CCDC78):c.767A>G (p.Glu256Gly) rs1374510953 0.00001
NM_001378030.1(CCDC78):c.772G>A (p.Ala258Thr) rs778696812 0.00001
NM_001378030.1(CCDC78):c.844C>T (p.Arg282Trp) rs747752625 0.00001
NM_001378030.1(CCDC78):c.851C>T (p.Ala284Val) rs749614530 0.00001
NM_001378030.1(CCDC78):c.886G>A (p.Ala296Thr) rs1395442564 0.00001
NM_001378030.1(CCDC78):c.910G>C (p.Val304Leu) rs1014754418 0.00001
NM_001378030.1(CCDC78):c.923G>A (p.Arg308His) rs151049173 0.00001
NM_001378030.1(CCDC78):c.930T>G (p.His310Gln) rs750273057 0.00001
NM_001378030.1(CCDC78):c.934G>A (p.Glu312Lys) rs767319981 0.00001
NM_001382567.1(STIM1):c.1025A>G (p.Tyr342Cys) rs1565170451 0.00001
NM_001382567.1(STIM1):c.1075G>C (p.Val359Leu) rs1565170474 0.00001
NM_001382567.1(STIM1):c.107C>T (p.Ser36Leu) rs200907515 0.00001
NM_001382567.1(STIM1):c.1137+3G>A rs199831332 0.00001
NM_001382567.1(STIM1):c.1154A>G (p.Lys385Arg) rs768311695 0.00001
NM_001382567.1(STIM1):c.1175G>C (p.Gly392Ala) rs1464170461 0.00001
NM_001382567.1(STIM1):c.1186G>A (p.Val396Met) rs1430915758 0.00001
NM_001382567.1(STIM1):c.1206G>A (p.Leu402=) rs760051786 0.00001
NM_001382567.1(STIM1):c.1252G>A (p.Glu418Lys) rs774565443 0.00001
NM_001382567.1(STIM1):c.1270C>T (p.Arg424Trp) rs200892145 0.00001
NM_001382567.1(STIM1):c.1291C>A (p.Gln431Lys) rs199666087 0.00001
NM_001382567.1(STIM1):c.1337G>A (p.Gly446Asp) rs1411280995 0.00001
NM_001382567.1(STIM1):c.1429G>A (p.Val477Met) rs199963821 0.00001
NM_001382567.1(STIM1):c.1439T>C (p.Met480Thr) rs762820296 0.00001
NM_001382567.1(STIM1):c.1447G>A (p.Glu483Lys) rs1449184284 0.00001
NM_001382567.1(STIM1):c.149G>A (p.Arg50Gln) rs201245746 0.00001
NM_001382567.1(STIM1):c.1615C>T (p.His539Tyr) rs1343386197 0.00001
NM_001382567.1(STIM1):c.1616A>G (p.His539Arg) rs2094494239 0.00001
NM_001382567.1(STIM1):c.1636G>T (p.Asp546Tyr) rs534419041 0.00001
NM_001382567.1(STIM1):c.1655C>T (p.Ser552Leu) rs745539009 0.00001
NM_001382567.1(STIM1):c.1682G>A (p.Arg561His) rs746517083 0.00001
NM_001382567.1(STIM1):c.1687C>T (p.Arg563Cys) rs202166909 0.00001
NM_001382567.1(STIM1):c.1688G>A (p.Arg563His) rs771442242 0.00001
NM_001382567.1(STIM1):c.1718G>A (p.Arg573His) rs202147687 0.00001
NM_001382567.1(STIM1):c.1754A>G (p.Asn585Ser) rs748820994 0.00001
NM_001382567.1(STIM1):c.1774G>A (p.Glu592Lys) rs200557274 0.00001
NM_001382567.1(STIM1):c.1822G>A (p.Ala608Thr) rs2094524790 0.00001
NM_001382567.1(STIM1):c.1873C>T (p.His625Tyr) rs201838782 0.00001
NM_001382567.1(STIM1):c.1892G>A (p.Ser631Asn) rs376050145 0.00001
NM_001382567.1(STIM1):c.1901C>T (p.Ala634Val) rs749622475 0.00001
NM_001382567.1(STIM1):c.1912G>A (p.Gly638Ser) rs200324378 0.00001
NM_001382567.1(STIM1):c.1960G>A (p.Asp654Asn) rs765041336 0.00001
NM_001382567.1(STIM1):c.2011C>T (p.Arg671Ter) rs930699942 0.00001
NM_001382567.1(STIM1):c.2012G>A (p.Arg671Gln) rs769001716 0.00001
NM_001382567.1(STIM1):c.2017A>G (p.Thr673Ala) rs1018411314 0.00001
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala) rs1164327463 0.00001
NM_001382567.1(STIM1):c.205C>T (p.Arg69Cys) rs201061396 0.00001
NM_001382567.1(STIM1):c.2062G>A (p.Asp688Asn) rs142357642 0.00001
NM_001382567.1(STIM1):c.2093C>G (p.Ser698Cys) rs766934652 0.00001
NM_001382567.1(STIM1):c.2102G>A (p.Gly701Asp) rs1355379737 0.00001
NM_001382567.1(STIM1):c.2124A>T (p.Lys708Asn) rs1346205421 0.00001
NM_001382567.1(STIM1):c.2125A>T (p.Ile709Phe) rs747118337 0.00001
NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr) rs751520286 0.00001
NM_001382567.1(STIM1):c.238A>G (p.Asn80Asp) rs1029278195 0.00001
NM_001382567.1(STIM1):c.295C>T (p.His99Tyr) rs1440304974 0.00001
NM_001382567.1(STIM1):c.340C>T (p.Leu114Phe) rs201767533 0.00001
NM_001382567.1(STIM1):c.400G>A (p.Val134Met) rs200351944 0.00001
NM_001382567.1(STIM1):c.463C>T (p.Arg155Trp) rs747832260 0.00001
NM_001382567.1(STIM1):c.498-4A>G rs977105613 0.00001
NM_001382567.1(STIM1):c.551G>A (p.Arg184Gln) rs766441391 0.00001
NM_001382567.1(STIM1):c.580G>T (p.Ala194Ser) rs1371053190 0.00001
NM_001382567.1(STIM1):c.605C>T (p.Pro202Leu) rs1242032695 0.00001
NM_001382567.1(STIM1):c.626A>G (p.Asn209Ser) rs763916693 0.00001
NM_001382567.1(STIM1):c.62A>G (p.Gln21Arg) rs201500852 0.00001
NM_001382567.1(STIM1):c.670G>A (p.Val224Met) rs1159817252 0.00001
NM_001382567.1(STIM1):c.704G>A (p.Arg235His) rs764002968 0.00001
NM_001382567.1(STIM1):c.733A>G (p.Met245Val) rs755714206 0.00001
NM_001382567.1(STIM1):c.767A>G (p.Gln256Arg) rs201576757 0.00001
NM_001382567.1(STIM1):c.798C>A (p.His266Gln) rs199615736 0.00001
NM_001382567.1(STIM1):c.818G>A (p.Arg273His) rs765987346 0.00001
NM_001382567.1(STIM1):c.931C>T (p.Arg311Trp) rs770698758 0.00001
NM_001382567.1(STIM1):c.937C>T (p.Arg313Cys) rs1248955977 0.00001
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile) rs1309343033 0.00001
NM_001458.5(FLNC):c.1054G>A (p.Val352Met) rs773023988 0.00001
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala) rs1324323411 0.00001
NM_001458.5(FLNC):c.1171G>A (p.Val391Met) rs757887021 0.00001
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala) rs1437029966 0.00001
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) rs1343684536 0.00001
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser) rs777706683 0.00001
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val) rs1808207788 0.00001
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val) rs777210524 0.00001
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val) rs765622614 0.00001
NM_001458.5(FLNC):c.1412-3del rs765490580 0.00001
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser) rs747289343 0.00001
NM_001458.5(FLNC):c.1433G>A (p.Arg478His) rs749593461 0.00001
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) rs1422233407 0.00001
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp) rs1483134760 0.00001
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg) rs1807854319 0.00001
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp) rs1168879153 0.00001
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser) rs779855512 0.00001
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp) rs760471547 0.00001
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp) rs1032152678 0.00001
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln) rs769870285 0.00001
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr) rs1163059574 0.00001
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly) rs757878206 0.00001
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu) rs780098760 0.00001
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn) rs768829742 0.00001
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys) rs758389160 0.00001
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr) rs746183882 0.00001
NM_001458.5(FLNC):c.185G>A (p.Arg62His) rs1308771065 0.00001
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn) rs912680912 0.00001
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn) rs1256634062 0.00001
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly) rs770606675 0.00001
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr) rs1373245749 0.00001
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu) rs775292418 0.00001
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser) rs1227192105 0.00001
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val) rs772223832 0.00001
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) rs1446694237 0.00001
NM_001458.5(FLNC):c.2121+4G>A rs372098008 0.00001
NM_001458.5(FLNC):c.2121+5G>A rs376348610 0.00001
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr) rs1554398541 0.00001
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr) rs751548628 0.00001
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser) rs764774528 0.00001
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys) rs752627571 0.00001
NM_001458.5(FLNC):c.2212C>G (p.His738Asp) rs1236577531 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln) rs781101985 0.00001
NM_001458.5(FLNC):c.2265+5G>A rs1049500135 0.00001
NM_001458.5(FLNC):c.227T>G (p.Val76Gly) rs1011301530 0.00001
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys) rs373798394 0.00001
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg) rs1322212555 0.00001
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp) rs1055062421 0.00001
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala) rs1808384296 0.00001
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu) rs1471063024 0.00001
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met) rs1010774264 0.00001
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile) rs1227658348 0.00001
NM_001458.5(FLNC):c.2376C>T (p.Ser792=) rs754097557 0.00001
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr) rs1198975298 0.00001
NM_001458.5(FLNC):c.2389+4C>T rs1057523921 0.00001
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg) rs748717566 0.00001
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser) rs371398126 0.00001
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr) rs1386986739 0.00001
NM_001458.5(FLNC):c.2424C>T (p.Gly808=) rs764991202 0.00001
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile) rs1367245869 0.00001
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp) rs940353148 0.00001
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys) rs771092335 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile) rs1324832799 0.00001
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln) rs1807860720 0.00001
NM_001458.5(FLNC):c.2642-3C>T rs1808423104 0.00001
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val) rs377095070 0.00001
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe) rs770379589 0.00001
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg) rs769110628 0.00001
NM_001458.5(FLNC):c.2666A>G (p.His889Arg) rs1808424297 0.00001
NM_001458.5(FLNC):c.2674G>A (p.Val892Met) rs200986712 0.00001
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser) rs1212936871 0.00001
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) rs762095761 0.00001
NM_001458.5(FLNC):c.2767A>C (p.Asn923His) rs1420123492 0.00001
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe) rs1585158690 0.00001
NM_001458.5(FLNC):c.2811+4C>T rs146715204 0.00001
NM_001458.5(FLNC):c.2811+5G>A rs781538211 0.00001
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr) rs1334463747 0.00001
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln) rs1195481399 0.00001
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg) rs1808450221 0.00001
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile) rs933349270 0.00001
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser) rs752053093 0.00001
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu) rs752448040 0.00001
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro) rs376107866 0.00001
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His) rs904161285 0.00001
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val) rs369078760 0.00001
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val) rs759012932 0.00001
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu) rs768820218 0.00001
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu) rs546130026 0.00001
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu) rs1258543242 0.00001
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser) rs751887771 0.00001
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu) rs756192123 0.00001
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn) rs768725458 0.00001
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp) rs760500171 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser) rs769490872 0.00001
NM_001458.5(FLNC):c.352+3C>T rs750255204 0.00001
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys) rs912926530 0.00001
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg) rs753812010 0.00001
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn) rs774968828 0.00001
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu) rs757144162 0.00001
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile) rs368102638 0.00001
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly) rs772667448 0.00001
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val) rs1256859746 0.00001
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu) rs771575526 0.00001
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val) rs1064796931 0.00001
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser) rs767079356 0.00001
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly) rs766330686 0.00001
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys) rs1808556919 0.00001
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met) rs374127804 0.00001
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile) rs1321855034 0.00001
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly) rs138193236 0.00001
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val) rs1276975364 0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) rs761881020 0.00001
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met) rs1159994552 0.00001
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val) rs748008658 0.00001
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg) rs766513255 0.00001
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu) rs1430761286 0.00001
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met) rs375366821 0.00001
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn) rs778951900 0.00001
NM_001458.5(FLNC):c.4232C>T (p.Pro1411Leu) rs1808589575 0.00001
NM_001458.5(FLNC):c.4288+3G>A rs1199950013 0.00001
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu) rs1427806742 0.00001
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala) rs754170282 0.00001
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly) rs762257502 0.00001
NM_001458.5(FLNC):c.439A>G (p.Met147Val) rs539316555 0.00001
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser) rs1263243888 0.00001
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln) rs376380652 0.00001
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met) rs186904046 0.00001
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys) rs71581926 0.00001
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn) rs748265400 0.00001
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile) rs532654321 0.00001
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln) rs778417108 0.00001
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys) rs746275035 0.00001
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His) rs374729872 0.00001
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly) rs747642919 0.00001
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg) rs756526090 0.00001
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn) rs778534100 0.00001
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile) rs1554399973 0.00001
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr) rs777526166 0.00001
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn) rs1449992399 0.00001
NM_001458.5(FLNC):c.470G>A (p.Arg157His) rs752919962 0.00001
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr) rs972936640 0.00001
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys) rs948081935 0.00001
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met) rs753742681 0.00001
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala) rs2643767 0.00001
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser) rs770231264 0.00001
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser) rs367824027 0.00001
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr) rs1479430297 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp) rs762493974 0.00001
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His) rs1297786780 0.00001
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu) rs1385628312 0.00001
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) rs748879903 0.00001
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys) rs773260834 0.00001
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys) rs764500516 0.00001
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser) rs1380018208 0.00001
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys) rs1585165163 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser) rs892618706 0.00001
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys) rs1585165259 0.00001
NM_001458.5(FLNC):c.5293C>T (p.His1765Tyr) rs1263073740 0.00001
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg) rs778860499 0.00001
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser) rs370823820 0.00001
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val) rs1347090077 0.00001
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val) rs540112341 0.00001
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile) rs1035403005 0.00001
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro) rs1243600050 0.00001
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu) rs1224086145 0.00001
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val) rs1168575419 0.00001
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn) rs1198641168 0.00001
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr) rs373146637 0.00001
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys) rs762869314 0.00001
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser) rs763930207 0.00001
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile) rs1175006964 0.00001
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser) rs756880490 0.00001
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr) rs751937921 0.00001
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met) rs370076553 0.00001
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile) rs376413798 0.00001
NM_001458.5(FLNC):c.5842+6G>A rs1010018310 0.00001
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr) rs567595947 0.00001
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser) rs1008787584 0.00001
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr) rs766127245 0.00001
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys) rs1288953274 0.00001
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln) rs1346364708 0.00001
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala) rs1478918808 0.00001
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln) rs1254027067 0.00001
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu) rs772621794 0.00001
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met) rs775231810 0.00001
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met) rs1019545678 0.00001
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg) rs1808882683 0.00001
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val) rs773543205 0.00001
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu) rs1261109029 0.00001
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His) rs776520014 0.00001
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr) rs780762913 0.00001
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val) rs1438491751 0.00001
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr) rs760120511 0.00001
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val) rs1236042892 0.00001
NM_001458.5(FLNC):c.6361G>A (p.Gly2121Arg) rs1328507446 0.00001
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser) rs375778608 0.00001
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys) rs757511370 0.00001
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His) rs1808925531 0.00001
NM_001458.5(FLNC):c.6484+6A>T rs764061858 0.00001
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys) rs767250474 0.00001
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala) rs1285672775 0.00001
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr) rs777415462 0.00001
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys) rs747336635 0.00001
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp) rs931787034 0.00001
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys) rs1474675847 0.00001
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln) rs760535041 0.00001
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys) rs758838323 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys) rs1476564683 0.00001
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser) rs1431110219 0.00001
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg) rs1310201356 0.00001
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val) rs370839908 0.00001
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys) rs1265897548 0.00001
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp) rs1311623651 0.00001
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr) rs963272191 0.00001
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile) rs1375490850 0.00001
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) rs571239463 0.00001
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His) rs1034483511 0.00001
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser) rs756870838 0.00001
NM_001458.5(FLNC):c.699+5A>G rs1808129501 0.00001
NM_001458.5(FLNC):c.6997+4A>G rs1227552125 0.00001
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr) rs529917784 0.00001
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg) rs751765487 0.00001
NM_001458.5(FLNC):c.7135+6C>T rs774739675 0.00001
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe) rs1219809283 0.00001
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr) rs376257910 0.00001
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp) rs1020489966 0.00001
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser) rs773579752 0.00001
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser) rs1160639957 0.00001
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln) rs370293647 0.00001
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile) rs191224002 0.00001
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val) rs1430261045 0.00001
NM_001458.5(FLNC):c.748G>A (p.Val250Ile) rs1562991895 0.00001
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser) rs746969946 0.00001
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile) rs373973635 0.00001
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr) rs749891076 0.00001
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met) rs1317229834 0.00001
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala) rs760694025 0.00001
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu) rs201895675 0.00001
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His) rs771689118 0.00001
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) rs1040102987 0.00001
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp) rs199519281 0.00001
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser) rs1381739439 0.00001
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser) rs566747845 0.00001
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe) rs746685461 0.00001
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys) rs1183050599 0.00001
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met) rs745434129 0.00001
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp) rs1411832198 0.00001
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr) rs1009545372 0.00001
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln) rs760857362 0.00001
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser) rs755387909 0.00001
NM_001458.5(FLNC):c.802G>A (p.Val268Ile) rs1210929657 0.00001
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn) rs1377893206 0.00001
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln) rs1585152863 0.00001
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala) rs1292665355 0.00001
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr) rs553714847 0.00001
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys) rs758271134 0.00001
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe) rs1220183666 0.00001
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys) rs1202164075 0.00001
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys) rs1274480597 0.00001
NM_001458.5(FLNC):c.905C>T (p.Thr302Met) rs776362922 0.00001
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys) rs756104407 0.00001
NM_001458.5(FLNC):c.969+4T>G rs953435954 0.00001
NM_001458.5(FLNC):c.970-3T>C rs1250140261 0.00001
NM_001843.4(CNTN1):c.1228+4A>G rs1183511907 0.00001
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val) rs896129454 0.00001
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys) rs1465154174 0.00001
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly) rs1946191168 0.00001
NM_001843.4(CNTN1):c.1508-3T>C rs768212555 0.00001
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala) rs199754941 0.00001
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val) rs779551448 0.00001
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) rs142561108 0.00001
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) rs1172211353 0.00001
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) rs767086250 0.00001
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) rs755364145 0.00001
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys) rs563858684 0.00001
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala) rs778593974 0.00001
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn) rs1393458031 0.00001
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) rs777561409 0.00001
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) rs770506056 0.00001
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met) rs760051219 0.00001
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser) rs370161709 0.00001
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) rs1033656256 0.00001
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr) rs1004191780 0.00001
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala) rs780316987 0.00001
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp) rs1168401868 0.00001
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu) rs761108267 0.00001
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu) rs777846543 0.00001
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) rs751205601 0.00001
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His) rs761797408 0.00001
NM_001843.4(CNTN1):c.27T>A (p.His9Gln) rs745850349 0.00001
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met) rs141213968 0.00001
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser) rs771084573 0.00001
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser) rs745975456 0.00001
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser) rs766058382 0.00001
NM_001843.4(CNTN1):c.304A>C (p.Asn102His) rs749864561 0.00001
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu) rs755559017 0.00001
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu) rs184703177 0.00001
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val) rs1481545617 0.00001
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu) rs775149768 0.00001
NM_001843.4(CNTN1):c.61+5G>A rs1944916936 0.00001
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe) rs1229864034 0.00001
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr) rs1379159066 0.00001
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) rs1478025106 0.00001
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser) rs139270901 0.00001
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) rs1458269504 0.00001
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile) rs1363438018 0.00001
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu) rs145955800 0.00001
NM_001843.4(CNTN1):c.985+6T>C rs202118617 0.00001
NM_001848.3(COL6A1):c.1002+6T>C rs13052179 0.00001
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr) rs2077773578 0.00001
NM_001848.3(COL6A1):c.1182+5G>C rs1473206283 0.00001
NM_001848.3(COL6A1):c.1236+3G>A rs968780030 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr) rs1436272876 0.00001
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser) rs2077714741 0.00001
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser) rs1235742792 0.00001
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly) rs2077813854 0.00001
NM_001848.3(COL6A1):c.1575+4A>G rs1306019240 0.00001
NM_001848.3(COL6A1):c.1575+6T>C rs745511169 0.00001
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys) rs2077819024 0.00001
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser) rs771012175 0.00001
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg) rs886043521 0.00001
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys) rs887316220 0.00001
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser) rs778884385 0.00001
NM_001848.3(COL6A1):c.1740+3G>C rs1314703448 0.00001
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala) rs1462355816 0.00001
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe) rs368925441 0.00001
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=) rs750677675 0.00001
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly) rs1255698056 0.00001
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln) rs766956281 0.00001
NM_001848.3(COL6A1):c.2147C>T (p.Pro716Leu) rs755589190 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.2309A>G (p.Asn770Ser) rs886042972 0.00001
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu) rs936641232 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001848.3(COL6A1):c.3052C>T (p.His1018Tyr) rs2077865867 0.00001
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro) rs2077725343 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys) rs1305504243 0.00001
NM_001848.3(COL6A1):c.717+1G>A rs113969925 0.00001
NM_001848.3(COL6A1):c.79A>T (p.Arg27Trp) rs1031520613 0.00001
NM_001848.3(COL6A1):c.903+5G>A rs759468291 0.00001
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser) rs2078489585 0.00001
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser) rs1218992420 0.00001
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys) rs1473389233 0.00001
NM_001849.4(COL6A2):c.1111G>A (p.Gly371Ser) rs768542626 0.00001
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=) rs762160379 0.00001
NM_001849.4(COL6A2):c.1117-3C>T rs772428654 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser) rs1328612494 0.00001
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr) rs760573983 0.00001
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys) rs781742477 0.00001
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr) rs144735844 0.00001
NM_001849.4(COL6A2):c.1395+6G>A rs886042454 0.00001
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter) rs374669775 0.00001
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln) rs746541506 0.00001
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser) rs369945453 0.00001
NM_001849.4(COL6A2):c.1458+3C>T rs794727186 0.00001
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe) rs755539822 0.00001
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser) rs553174831 0.00001
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His) rs770222615 0.00001
NM_001849.4(COL6A2):c.1521+5G>A rs760353646 0.00001
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser) rs780177226 0.00001
NM_001849.4(COL6A2):c.1562G>A (p.Arg521Gln) rs367693258 0.00001
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=) rs552356380 0.00001
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser) rs1307667500 0.00001
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val) rs376303610 0.00001
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu) rs370775804 0.00001
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser) rs750533442 0.00001
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg) rs917875281 0.00001
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala) rs1487977724 0.00001
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr) rs1420375071 0.00001
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=) rs778401356 0.00001
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys) rs387906607 0.00001
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr) rs766374821 0.00001
NM_001849.4(COL6A2):c.1895C>T (p.Thr632Ile) rs1042338524 0.00001
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala) rs760227367 0.00001
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp) rs2078657536 0.00001
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys) rs139627965 0.00001
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg) rs886042922 0.00001
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His) rs749451502 0.00001
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn) rs1348937334 0.00001
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val) rs761863452 0.00001
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu) rs750009012 0.00001
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser) rs773338647 0.00001
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro) rs982360912 0.00001
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg) rs727502834 0.00001
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser) rs1044778936 0.00001
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala) rs886044025 0.00001
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu) rs775748752 0.00001
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr) rs11554667 0.00001
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met) rs755782924 0.00001
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu) rs727502835 0.00001
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys) rs932129947 0.00001
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys) rs775590810 0.00001
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp) rs752291709 0.00001
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser) rs780908409 0.00001
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser) rs1228163562 0.00001
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met) rs771341779 0.00001
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn) rs773974101 0.00001
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val) rs201842315 0.00001
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser) rs1337272208 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.2891T>C (p.Met964Thr) rs1427750922 0.00001
NM_001849.4(COL6A2):c.2923G>A (p.Ala975Thr) rs777494468 0.00001
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser) rs370593484 0.00001
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val) rs754518986 0.00001
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu) rs1555877365 0.00001
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn) rs750682710 0.00001
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys) rs1051148162 0.00001
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=) rs751470018 0.00001
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp) rs776732203 0.00001
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn) rs969934621 0.00001
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys) rs557545831 0.00001
NM_001849.4(COL6A2):c.389G>A (p.Arg130His) rs200387819 0.00001
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val) rs886044462 0.00001
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr) rs1454146707 0.00001
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile) rs886044102 0.00001
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys) rs766523982 0.00001
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg) rs751632108 0.00001
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn) rs776631856 0.00001
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp) rs779287707 0.00001
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys) rs1379543505 0.00001
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile) rs752359061 0.00001
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu) rs777108595 0.00001
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys) rs1159588931 0.00001
NM_001849.4(COL6A2):c.901-3C>T rs112317259 0.00001
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn) rs759838639 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_001927.4(DES):c.*428G>C rs886055654 0.00001
NM_001927.4(DES):c.1023+6T>G rs1039179103 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile) rs375005961 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.10G>A (p.Ala4Thr) rs1239304442 0.00001
NM_001927.4(DES):c.1103C>T (p.Ala368Val) rs371830218 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1142T>C (p.Met381Thr) rs779749720 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1156C>T (p.Arg386Cys) rs369765867 0.00001
NM_001927.4(DES):c.1189G>T (p.Ala397Ser) rs727502951 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1250A>G (p.Asn417Ser) rs376141178 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1300G>A (p.Glu434Lys) rs952020807 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_001927.4(DES):c.146T>C (p.Val49Ala) rs794728989 0.00001
NM_001927.4(DES):c.155G>C (p.Arg52Pro) rs1372689272 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.280G>A (p.Ala94Thr) rs1163703259 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.28C>T (p.Arg10Cys) rs1196125127 0.00001
NM_001927.4(DES):c.298G>A (p.Glu100Lys) rs1434605523 0.00001
NM_001927.4(DES):c.29G>A (p.Arg10His) rs757839952 0.00001
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.371A>G (p.Glu124Gly) rs564121737 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.469G>A (p.Glu157Lys) rs1265299630 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.49A>T (p.Thr17Ser) rs1342928312 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472 0.00001
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.560T>G (p.Leu187Arg) rs1248833348 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.58G>A (p.Gly20Arg) rs759306707 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.603G>C (p.Lys201Asn) rs765376573 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.694C>T (p.Leu232Phe) rs764764823 0.00001
NM_001927.4(DES):c.710C>T (p.Ala237Val) rs374144840 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.746A>C (p.Glu249Ala) rs1256488465 0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr) rs1457398926 0.00001
NM_001927.4(DES):c.797C>T (p.Ser266Phe) rs1316058461 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.817G>A (p.Ala273Thr) rs770258461 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986 0.00001
NM_001927.4(DES):c.897+4G>A rs1329171337 0.00001
NM_001927.4(DES):c.91A>T (p.Ser31Cys) rs1553603207 0.00001
NM_001927.4(DES):c.943C>T (p.Arg315Cys) rs748742357 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) rs1085307802 0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) rs752674133 0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) rs1159355069 0.00001
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) rs863224249 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=) rs373478014 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_001953.5(TYMP):c.930G>A (p.Gly310=) rs773100466 0.00001
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) rs397515422 0.00001
NM_002469.3(MYF6):c.17T>G (p.Phe6Cys) rs1346404270 0.00001
NM_002469.3(MYF6):c.193C>T (p.Pro65Ser) rs1187510400 0.00001
NM_002469.3(MYF6):c.46G>A (p.Asp16Asn) rs749523828 0.00001
NM_002469.3(MYF6):c.520-3C>T rs1035326012 0.00001
NM_002469.3(MYF6):c.649C>T (p.Arg217Ter) rs779208935 0.00001
NM_002469.3(MYF6):c.91T>C (p.Ser31Pro) rs1443837642 0.00001
NM_002488.4(NDUFA2):c.-145T>A rs886060017 0.00001
NM_002495.4(NDUFS4):c.512_514dup (p.Arg171_Val172insGly) rs1425486695 0.00001
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.1328G>A (p.Arg443His) rs796052903 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.1669G>C (p.Glu557Gln) rs1481695998 0.00001
NM_002693.3(POLG):c.1882C>T (p.Arg628Trp) rs754245040 0.00001
NM_002693.3(POLG):c.1907C>G (p.Thr636Arg) rs917815816 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.1936G>T (p.Val646Phe) rs757131755 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2257C>T (p.Pro753Ser) rs1446536384 0.00001
NM_002693.3(POLG):c.2510A>G (p.Tyr837Cys) rs778190998 0.00001
NM_002693.3(POLG):c.2608G>C (p.Val870Leu) rs1329611992 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys) rs762593265 0.00001
NM_002693.3(POLG):c.3227G>A (p.Gly1076Asp) rs1381291951 0.00001
NM_002693.3(POLG):c.3273+17G>A rs368578878 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.3442C>T (p.Arg1148Cys) rs149099318 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NM_002693.3(POLG):c.856-3C>T rs576339221 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_002693.3(POLG):c.869G>A (p.Arg290His) rs146603953 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.3(POLG):c.995C>T (p.Ser332Phe) rs1567192290 0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val) rs202101384 0.00001
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly) rs751000085 0.00001
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys) rs1045881797 0.00001
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro) rs1131691046 0.00001
NM_003000.3(SDHB):c.749C>T (p.Thr250Ile) rs1057517537 0.00001
NM_003002.4(SDHD):c.148C>T (p.His50Tyr) rs779249550 0.00001
NM_003002.4(SDHD):c.217A>G (p.Ser73Gly) rs748545223 0.00001
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684 0.00001
NM_003002.4(SDHD):c.328G>A (p.Val110Ile) rs1060503771 0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003002.4(SDHD):c.353A>G (p.Asp118Gly) rs750857413 0.00001
NM_003002.4(SDHD):c.356C>T (p.Ala119Val) rs758784300 0.00001
NM_003002.4(SDHD):c.35G>A (p.Gly12Asp) rs764384503 0.00001
NM_003002.4(SDHD):c.388G>C (p.Ala130Pro) rs1312671864 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003002.4(SDHD):c.421T>C (p.Tyr141His) rs1394514096 0.00001
NM_003002.4(SDHD):c.428A>G (p.Asn143Ser) rs770909248 0.00001
NM_003002.4(SDHD):c.430T>C (p.Tyr144His) rs774243340 0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys) rs745732631 0.00001
NM_003002.4(SDHD):c.433C>A (p.His145Asn) rs121908984 0.00001
NM_003002.4(SDHD):c.82C>A (p.Pro28Thr) rs541477171 0.00001
NM_003002.4(SDHD):c.85G>C (p.Ala29Pro) rs776930864 0.00001
NM_003283.6(TNNT1):c.128+5G>A rs769428135 0.00001
NM_003283.6(TNNT1):c.136G>A (p.Val46Met) rs778199645 0.00001
NM_003283.6(TNNT1):c.202C>T (p.Arg68Cys) rs1317953556 0.00001
NM_003283.6(TNNT1):c.284A>G (p.Glu95Gly) rs1308212644 0.00001
NM_003283.6(TNNT1):c.308T>C (p.Ile103Thr) rs1050413432 0.00001
NM_003283.6(TNNT1):c.34G>C (p.Glu12Gln) rs748000993 0.00001
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) rs375999352 0.00001
NM_003283.6(TNNT1):c.387G>A (p.Ala129=) rs1415980730 0.00001
NM_003283.6(TNNT1):c.409G>A (p.Glu137Lys) rs1266457771 0.00001
NM_003283.6(TNNT1):c.515G>A (p.Arg172His) rs749691780 0.00001
NM_003283.6(TNNT1):c.530C>T (p.Thr177Met) rs781338289 0.00001
NM_003283.6(TNNT1):c.535C>T (p.Arg179Trp) rs757227738 0.00001
NM_003283.6(TNNT1):c.550C>T (p.Arg184Cys) rs12976760 0.00001
NM_003283.6(TNNT1):c.565C>T (p.Arg189Cys) rs780429876 0.00001
NM_003283.6(TNNT1):c.592A>G (p.Met198Val) rs757782018 0.00001
NM_003283.6(TNNT1):c.611G>A (p.Arg204Gln) rs765133367 0.00001
NM_003283.6(TNNT1):c.616C>T (p.Arg206Trp) rs748222508 0.00001
NM_003283.6(TNNT1):c.631C>A (p.Pro211Thr) rs766147911 0.00001
NM_003283.6(TNNT1):c.644C>T (p.Pro215Leu) rs1243419099 0.00001
NM_003283.6(TNNT1):c.71A>G (p.Glu24Gly) rs1391760195 0.00001
NM_003283.6(TNNT1):c.723G>A (p.Met241Ile) rs2085298945 0.00001
NM_003283.6(TNNT1):c.757G>A (p.Val253Met) rs572119503 0.00001
NM_003283.6(TNNT1):c.77C>A (p.Pro26His) rs1049167818 0.00001
NM_003283.6(TNNT1):c.788A>G (p.Lys263Arg) rs377276702 0.00001
NM_003283.6(TNNT1):c.817G>A (p.Val273Ile) rs774212109 0.00001
NM_003283.6(TNNT1):c.826C>T (p.Arg276Cys) rs201409131 0.00001
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_004168.4(SDHA):c.1000G>A (p.Ala334Thr) rs1401459296 0.00001
NM_004168.4(SDHA):c.1016C>T (p.Ser339Phe) rs1553999043 0.00001
NM_004168.4(SDHA):c.101A>G (p.His34Arg) rs757478250 0.00001
NM_004168.4(SDHA):c.1031C>T (p.Ser344Phe) rs1735563548 0.00001
NM_004168.4(SDHA):c.1033C>T (p.Arg345Trp) rs760598746 0.00001
NM_004168.4(SDHA):c.1041G>A (p.Met347Ile) rs1560994934 0.00001
NM_004168.4(SDHA):c.1075C>T (p.Pro359Ser) rs758817818 0.00001
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys) rs766779919 0.00001
NM_004168.4(SDHA):c.107C>T (p.Thr36Ile) rs1440814662 0.00001
NM_004168.4(SDHA):c.1090G>A (p.Val364Ile) rs372738835 0.00001
NM_004168.4(SDHA):c.1099C>G (p.Gln367Glu) rs780941330 0.00001
NM_004168.4(SDHA):c.10G>T (p.Val4Phe) rs778069799 0.00001
NM_004168.4(SDHA):c.1122G>T (p.Glu374Asp) rs377283167 0.00001
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) rs1433477205 0.00001
NM_004168.4(SDHA):c.1132A>G (p.Thr378Ala) rs1224187912 0.00001
NM_004168.4(SDHA):c.1133C>T (p.Thr378Met) rs777420907 0.00001
NM_004168.4(SDHA):c.1144G>A (p.Gly382Ser) rs1272640628 0.00001
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362 0.00001
NM_004168.4(SDHA):c.1157C>T (p.Thr386Ile) rs773218958 0.00001
NM_004168.4(SDHA):c.1165A>G (p.Ile389Val) rs1316310818 0.00001
NM_004168.4(SDHA):c.1187C>T (p.Thr396Met) rs757251714 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.1190A>C (p.Lys397Thr) rs745798689 0.00001
NM_004168.4(SDHA):c.1196C>A (p.Pro399Gln) rs878854625 0.00001
NM_004168.4(SDHA):c.1196C>T (p.Pro399Leu) rs878854625 0.00001
NM_004168.4(SDHA):c.1210C>T (p.Pro404Ser) rs769936006 0.00001
NM_004168.4(SDHA):c.121A>C (p.Lys41Gln) rs1061520 0.00001
NM_004168.4(SDHA):c.1220A>G (p.His407Arg) rs374087393 0.00001
NM_004168.4(SDHA):c.1225A>C (p.Asn409His) rs1404377989 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1250A>G (p.Tyr417Cys) rs528628545 0.00001
NM_004168.4(SDHA):c.125G>A (p.Arg42Lys) rs747557411 0.00001
NM_004168.4(SDHA):c.1260+4A>G rs1060503702 0.00001
NM_004168.4(SDHA):c.1276A>C (p.Asn426His) rs1735781689 0.00001
NM_004168.4(SDHA):c.127G>A (p.Ala43Thr) rs1579379865 0.00001
NM_004168.4(SDHA):c.1298C>T (p.Pro433Leu) rs747488969 0.00001
NM_004168.4(SDHA):c.1300G>A (p.Gly434Ser) rs529198317 0.00001
NM_004168.4(SDHA):c.1306T>C (p.Tyr436His) rs772729820 0.00001
NM_004168.4(SDHA):c.1358G>A (p.Gly453Glu) rs1169286790 0.00001
NM_004168.4(SDHA):c.1381G>T (p.Val461Phe) rs373021394 0.00001
NM_004168.4(SDHA):c.1382T>C (p.Val461Ala) rs767452676 0.00001
NM_004168.4(SDHA):c.1393C>T (p.Arg465Trp) rs752461029 0.00001
NM_004168.4(SDHA):c.1414G>A (p.Glu472Lys) rs143798161 0.00001
NM_004168.4(SDHA):c.1424G>A (p.Cys475Tyr) rs748567636 0.00001
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser) rs770506764 0.00001
NM_004168.4(SDHA):c.1430C>T (p.Pro477Leu) rs146990772 0.00001
NM_004168.4(SDHA):c.1445C>A (p.Pro482His) rs759661610 0.00001
NM_004168.4(SDHA):c.1450A>G (p.Ile484Val) rs1224049828 0.00001
NM_004168.4(SDHA):c.1456C>A (p.Pro486Thr) rs1060503706 0.00001
NM_004168.4(SDHA):c.1459A>C (p.Asn487His) rs1208182306 0.00001
NM_004168.4(SDHA):c.1472A>C (p.Glu491Ala) rs754324916 0.00001
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp) rs757663708 0.00001
NM_004168.4(SDHA):c.1546C>G (p.Gln516Glu) rs1251348764 0.00001
NM_004168.4(SDHA):c.1551G>A (p.Lys517=) rs772822136 0.00001
NM_004168.4(SDHA):c.1552-3C>T rs1222778933 0.00001
NM_004168.4(SDHA):c.1579C>T (p.Arg527Cys) rs138723511 0.00001
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His) rs1339009840 0.00001
NM_004168.4(SDHA):c.1628A>G (p.Tyr543Cys) rs778670859 0.00001
NM_004168.4(SDHA):c.1630G>A (p.Gly544Arg) rs1338347881 0.00001
NM_004168.4(SDHA):c.1641G>C (p.Lys547Asn) rs1267429398 0.00001
NM_004168.4(SDHA):c.1687G>A (p.Val563Met) rs1736814459 0.00001
NM_004168.4(SDHA):c.1696C>G (p.Leu566Val) rs142936520 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NM_004168.4(SDHA):c.1739A>G (p.Tyr580Cys) rs372707443 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1772C>T (p.Ala591Val) rs367621815 0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655 0.00001
NM_004168.4(SDHA):c.1787A>G (p.Asp596Gly) rs1126557 0.00001
NM_004168.4(SDHA):c.1795-3C>G rs544544409 0.00001
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp) rs878854630 0.00001
NM_004168.4(SDHA):c.1813G>A (p.Asp605Asn) rs771593214 0.00001
NM_004168.4(SDHA):c.1819T>C (p.Ser607Pro) rs1183122120 0.00001
NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) rs750865703 0.00001
NM_004168.4(SDHA):c.1889T>C (p.Val630Ala) rs1392791825 0.00001
NM_004168.4(SDHA):c.1908+5G>C rs759574062 0.00001
NM_004168.4(SDHA):c.1908+6T>C rs1359050908 0.00001
NM_004168.4(SDHA):c.1913C>T (p.Thr638Ile) rs370133236 0.00001
NM_004168.4(SDHA):c.1915C>G (p.Leu639Val) rs1126697 0.00001
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg) rs1060503717 0.00001
NM_004168.4(SDHA):c.1943C>G (p.Thr648Ser) rs1420345359 0.00001
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser) rs1485747007 0.00001
NM_004168.4(SDHA):c.1960T>G (p.Cys654Gly) rs60587941 0.00001
NM_004168.4(SDHA):c.1978G>A (p.Ala660Thr) rs1554002911 0.00001
NM_004168.4(SDHA):c.224G>A (p.Arg75Gln) rs751645963 0.00001
NM_004168.4(SDHA):c.23C>G (p.Ser8Trp) rs878854631 0.00001
NM_004168.4(SDHA):c.25C>T (p.Arg9Trp) rs776218604 0.00001
NM_004168.4(SDHA):c.260C>T (p.Thr87Ile) rs756543943 0.00001
NM_004168.4(SDHA):c.312+5G>A rs1384659459 0.00001
NM_004168.4(SDHA):c.313-5T>G rs1060503705 0.00001
NM_004168.4(SDHA):c.323A>G (p.Asn108Ser) rs758086385 0.00001
NM_004168.4(SDHA):c.328G>C (p.Ala110Pro) rs786205209 0.00001
NM_004168.4(SDHA):c.340A>G (p.Met114Val) rs933414586 0.00001
NM_004168.4(SDHA):c.371A>G (p.Tyr124Cys) rs935241830 0.00001
NM_004168.4(SDHA):c.373G>A (p.Asp125Asn) rs780654623 0.00001
NM_004168.4(SDHA):c.379G>A (p.Val127Met) rs777600956 0.00001
NM_004168.4(SDHA):c.420C>G (p.His140Gln) rs747232441 0.00001
NM_004168.4(SDHA):c.422A>G (p.Tyr141Cys) rs1377816261 0.00001
NM_004168.4(SDHA):c.433C>G (p.Gln145Glu) rs765784494 0.00001
NM_004168.4(SDHA):c.439C>T (p.Pro147Ser) rs1734963793 0.00001
NM_004168.4(SDHA):c.451G>A (p.Val151Ile) rs143148642 0.00001
NM_004168.4(SDHA):c.461A>G (p.Glu154Gly) rs777873911 0.00001
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp) rs569384870 0.00001
NM_004168.4(SDHA):c.478T>C (p.Phe160Leu) rs775074528 0.00001
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) rs375067326 0.00001
NM_004168.4(SDHA):c.493G>A (p.Asp165Asn) rs1734989215 0.00001
NM_004168.4(SDHA):c.499A>C (p.Lys167Gln) rs763578369 0.00001
NM_004168.4(SDHA):c.511C>T (p.Arg171Cys) rs776193478 0.00001
NM_004168.4(SDHA):c.530G>C (p.Ser177Thr) rs1553997783 0.00001
NM_004168.4(SDHA):c.541G>C (p.Gly181Arg) rs1305547879 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.560A>G (p.His187Arg) rs1236616384 0.00001
NM_004168.4(SDHA):c.568T>C (p.Cys190Arg) rs908267345 0.00001
NM_004168.4(SDHA):c.572G>A (p.Cys191Tyr) rs1393298155 0.00001
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln) rs762956849 0.00001
NM_004168.4(SDHA):c.595T>A (p.Ser199Thr) rs770407681 0.00001
NM_004168.4(SDHA):c.596C>T (p.Ser199Leu) rs878854633 0.00001
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) rs762108779 0.00001
NM_004168.4(SDHA):c.632A>G (p.Tyr211Cys) rs1235961098 0.00001
NM_004168.4(SDHA):c.640A>G (p.Ser214Gly) rs752144637 0.00001
NM_004168.4(SDHA):c.666G>T (p.Leu222Phe) rs778256616 0.00001
NM_004168.4(SDHA):c.685G>A (p.Gly229Arg) rs41495051 0.00001
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635 0.00001
NM_004168.4(SDHA):c.707C>T (p.Ala236Val) rs1060503703 0.00001
NM_004168.4(SDHA):c.715A>T (p.Ile239Leu) rs760106352 0.00001
NM_004168.4(SDHA):c.724G>A (p.Gly242Arg) rs764534044 0.00001
NM_004168.4(SDHA):c.730A>G (p.Ile244Val) rs1162393515 0.00001
NM_004168.4(SDHA):c.752A>C (p.Asn251Thr) rs1318566276 0.00001
NM_004168.4(SDHA):c.753C>G (p.Asn251Lys) rs1126411 0.00001
NM_004168.4(SDHA):c.766A>G (p.Thr256Ala) rs1409070000 0.00001
NM_004168.4(SDHA):c.776A>G (p.Tyr259Cys) rs1579397049 0.00001
NM_004168.4(SDHA):c.781C>T (p.Arg261Cys) rs143484394 0.00001
NM_004168.4(SDHA):c.782G>A (p.Arg261His) rs769228279 0.00001
NM_004168.4(SDHA):c.792C>G (p.Phe264Leu) rs1237513803 0.00001
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464 0.00001
NM_004168.4(SDHA):c.832G>A (p.Ala278Thr) rs1178613645 0.00001
NM_004168.4(SDHA):c.835A>G (p.Met279Val) rs755913710 0.00001
NM_004168.4(SDHA):c.853C>T (p.Leu285Phe) rs747045191 0.00001
NM_004168.4(SDHA):c.861C>G (p.Cys287Trp) rs140797184 0.00001
NM_004168.4(SDHA):c.869T>C (p.Leu290Pro) rs1333787672 0.00001
NM_004168.4(SDHA):c.86G>A (p.Gly29Glu) rs1436200566 0.00001
NM_004168.4(SDHA):c.889C>T (p.Pro297Ser) rs1224049075 0.00001
NM_004168.4(SDHA):c.896-11G>T rs774043076 0.00001
NM_004168.4(SDHA):c.901T>C (p.Tyr301His) rs1060503713 0.00001
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys) rs182055219 0.00001
NM_004168.4(SDHA):c.914G>A (p.Cys305Tyr) rs878854638 0.00001
NM_004168.4(SDHA):c.919A>G (p.Ile307Val) rs200632016 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004168.4(SDHA):c.962G>T (p.Ser321Ile) rs751896104 0.00001
NM_004168.4(SDHA):c.973A>T (p.Arg325Trp) rs1735554095 0.00001
NM_004168.4(SDHA):c.986G>A (p.Arg329Gln) rs138265892 0.00001
NM_004168.4(SDHA):c.997G>A (p.Val333Ile) rs1062468 0.00001
NM_004281.4(BAG3):c.1012C>T (p.Pro338Ser) rs1319754171 0.00001
NM_004281.4(BAG3):c.101C>T (p.Thr34Ile) rs1387616851 0.00001
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys) rs768613403 0.00001
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp) rs1057522401 0.00001
NM_004281.4(BAG3):c.103G>A (p.Gly35Ser) rs200072558 0.00001
NM_004281.4(BAG3):c.1058A>G (p.Gln353Arg) rs764432849 0.00001
NM_004281.4(BAG3):c.1085T>C (p.Val362Ala) rs200812717 0.00001
NM_004281.4(BAG3):c.109C>T (p.Pro37Ser) rs764177199 0.00001
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) rs786205347 0.00001
NM_004281.4(BAG3):c.1109C>T (p.Pro370Leu) rs746602007 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004281.4(BAG3):c.1139C>T (p.Pro380Leu) rs769467386 0.00001
NM_004281.4(BAG3):c.1141T>C (p.Ser381Pro) rs763427403 0.00001
NM_004281.4(BAG3):c.1160C>T (p.Pro387Leu) rs1060502816 0.00001
NM_004281.4(BAG3):c.1168G>A (p.Val390Met) rs1847242044 0.00001
NM_004281.4(BAG3):c.1169T>C (p.Val390Ala) rs1421913723 0.00001
NM_004281.4(BAG3):c.1184G>A (p.Arg395Lys) rs111787446 0.00001
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly) rs775153939 0.00001
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile) rs727502900 0.00001
NM_004281.4(BAG3):c.1231G>A (p.Gly411Arg) rs750627409 0.00001
NM_004281.4(BAG3):c.1250C>A (p.Pro417Gln) rs751558069 0.00001
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys) rs774713887 0.00001
NM_004281.4(BAG3):c.1289A>T (p.Glu430Val) rs748744340 0.00001
NM_004281.4(BAG3):c.1323C>A (p.Asn441Lys) rs1325704409 0.00001
NM_004281.4(BAG3):c.1407C>A (p.Asp469Glu) rs1381722756 0.00001
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln) rs150156178 0.00001
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys) rs775645671 0.00001
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser) rs570294713 0.00001
NM_004281.4(BAG3):c.1469T>C (p.Ile490Thr) rs1251253467 0.00001
NM_004281.4(BAG3):c.1477A>G (p.Lys493Glu) rs1362214797 0.00001
NM_004281.4(BAG3):c.1570A>G (p.Ile524Val) rs764925485 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004281.4(BAG3):c.1582G>C (p.Gly528Arg) rs752007619 0.00001
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly) rs369690617 0.00001
NM_004281.4(BAG3):c.1623T>A (p.Asn541Lys) rs774573497 0.00001
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser) rs760485616 0.00001
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla) rs1847251591 0.00001
NM_004281.4(BAG3):c.1637A>T (p.His546Leu) rs1334550097 0.00001
NM_004281.4(BAG3):c.1639A>C (p.Thr547Pro) rs1057523768 0.00001
NM_004281.4(BAG3):c.1642G>C (p.Glu548Gln) rs1335289497 0.00001
NM_004281.4(BAG3):c.164C>T (p.Pro55Leu) rs1277623691 0.00001
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys) rs577455773 0.00001
NM_004281.4(BAG3):c.1664C>A (p.Thr555Lys) rs1322157514 0.00001
NM_004281.4(BAG3):c.1685C>T (p.Pro562Leu) rs1188545828 0.00001
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala) rs1407009048 0.00001
NM_004281.4(BAG3):c.1720G>T (p.Ala574Ser) rs779083262 0.00001
NM_004281.4(BAG3):c.1724C>T (p.Pro575Leu) rs748233260 0.00001
NM_004281.4(BAG3):c.179A>G (p.Lys60Arg) rs1212877946 0.00001
NM_004281.4(BAG3):c.181G>A (p.Glu61Lys) rs187116556 0.00001
NM_004281.4(BAG3):c.283C>G (p.Pro95Ala) rs727502898 0.00001
NM_004281.4(BAG3):c.299A>G (p.His100Arg) rs1847122709 0.00001
NM_004281.4(BAG3):c.305G>A (p.Gly102Asp) rs1554877016 0.00001
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr) rs774085716 0.00001
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys) rs566015884 0.00001
NM_004281.4(BAG3):c.322G>A (p.Val108Met) rs730880053 0.00001
NM_004281.4(BAG3):c.325C>T (p.His109Tyr) rs753302310 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004281.4(BAG3):c.341A>G (p.Tyr114Cys) rs769813479 0.00001
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser) rs774241343 0.00001
NM_004281.4(BAG3):c.348G>C (p.Gln116His) rs761808716 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln) rs769913236 0.00001
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser) rs780169403 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.460G>C (p.Val154Leu) rs376198104 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp) rs1474784659 0.00001
NM_004281.4(BAG3):c.473C>T (p.Ala158Val) rs369981590 0.00001
NM_004281.4(BAG3):c.50G>C (p.Gly17Ala) rs1846842565 0.00001
NM_004281.4(BAG3):c.515A>G (p.Gln172Arg) rs1847160177 0.00001
NM_004281.4(BAG3):c.524C>T (p.Ala175Val) rs1847160512 0.00001
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe) rs1482925321 0.00001
NM_004281.4(BAG3):c.557C>T (p.Ala186Val) rs766766600 0.00001
NM_004281.4(BAG3):c.55C>T (p.Arg19Cys) rs727502896 0.00001
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys) rs752722473 0.00001
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp) rs1047671466 0.00001
NM_004281.4(BAG3):c.646G>A (p.Val216Ile) rs148282376 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.692C>T (p.Thr231Met) rs747454279 0.00001
NM_004281.4(BAG3):c.704C>T (p.Ala235Val) rs371731106 0.00001
NM_004281.4(BAG3):c.710A>G (p.Gln237Arg) rs1589630230 0.00001
NM_004281.4(BAG3):c.71C>G (p.Pro24Arg) rs771609568 0.00001
NM_004281.4(BAG3):c.770C>T (p.Pro257Leu) rs765142940 0.00001
NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) rs375687199 0.00001
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu) rs769034041 0.00001
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp) rs759573189 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.838C>T (p.Pro280Ser) rs1210697765 0.00001
NM_004281.4(BAG3):c.841G>A (p.Ala281Thr) rs1248777510 0.00001
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly) rs1847167969 0.00001
NM_004281.4(BAG3):c.881G>A (p.Arg294His) rs151335530 0.00001
NM_004281.4(BAG3):c.88A>G (p.Ile30Val) rs766796091 0.00001
NM_004281.4(BAG3):c.905C>T (p.Pro302Leu) rs201416791 0.00001
NM_004281.4(BAG3):c.909+4C>T rs376351857 0.00001
NM_004281.4(BAG3):c.910-2A>C rs762944997 0.00001
NM_004281.4(BAG3):c.944C>T (p.Ser315Phe) rs1060502818 0.00001
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg) rs1246603543 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser) rs762376423 0.00001
NM_004281.4(BAG3):c.997C>T (p.Pro333Ser) rs1393181351 0.00001
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His) rs140510298 0.00001
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met) rs1464663206 0.00001
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly) rs114235473 0.00001
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr) rs146429448 0.00001
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val) rs181264679 0.00001
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys) rs779588195 0.00001
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile) rs776324215 0.00001
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met) rs1386395959 0.00001
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys) rs188510971 0.00001
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala) rs770496206 0.00001
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His) rs993649247 0.00001
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser) rs780262157 0.00001
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val) rs756181209 0.00001
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His) rs539057609 0.00001
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys) rs1278327904 0.00001
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val) rs753189030 0.00001
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser) rs2077990679 0.00001
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn) rs886043408 0.00001
NM_004369.4(COL6A3):c.1897+6G>A rs1189511183 0.00001
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu) rs1347014329 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys) rs763798987 0.00001
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr) rs759150949 0.00001
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly) rs773202559 0.00001
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu) rs747957874 0.00001
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile) rs768905903 0.00001
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg) rs200887514 0.00001
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val) rs771091001 0.00001
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly) rs1326943912 0.00001
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys) rs201327438 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe) rs1370199768 0.00001
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp) rs149310819 0.00001
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe) rs1441141878 0.00001
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro) rs1339733240 0.00001
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His) rs775993027 0.00001
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser) rs1226873582 0.00001
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser) rs375167315 0.00001
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser) rs556864605 0.00001
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser) rs1465296993 0.00001
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser) rs748313591 0.00001
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His) rs768971873 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp) rs2078395425 0.00001
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile) rs761490778 0.00001
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys) rs1425555208 0.00001
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp) rs745854120 0.00001
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp) rs1574710031 0.00001
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp) rs769494656 0.00001
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe) rs2077785777 0.00001
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn) rs777599612 0.00001
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn) rs369994205 0.00001
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile) rs949598599 0.00001
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys) rs886042393 0.00001
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser) rs1321693848 0.00001
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn) rs563617159 0.00001
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln) rs1057518127 0.00001
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu) rs372089952 0.00001
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr) rs35799634 0.00001
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala) rs1480888719 0.00001
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val) rs780669785 0.00001
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln) rs1210132500 0.00001
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His) rs1168273415 0.00001
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His) rs115765346 0.00001
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu) rs911848582 0.00001
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys) rs1386145634 0.00001
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys) rs931661932 0.00001
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile) rs1341078916 0.00001
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val) rs757496683 0.00001
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg) rs1026210962 0.00001
NM_004369.4(COL6A3):c.5085C>G (p.Asp1695Glu) rs886044181 0.00001
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr) rs886042488 0.00001
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu) rs779425587 0.00001
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly) rs1365983591 0.00001
NM_004369.4(COL6A3):c.514G>A (p.Val172Met) rs1270503233 0.00001
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile) rs772640905 0.00001
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu) rs769177221 0.00001
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=) rs886043174 0.00001
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu) rs764975992 0.00001
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val) rs1477823319 0.00001
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser) rs750040219 0.00001
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys) rs886044508 0.00001
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg) rs751626953 0.00001
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr) rs2077562058 0.00001
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val) rs747200439 0.00001
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn) rs78904746 0.00001
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His) rs748330667 0.00001
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu) rs1423516861 0.00001
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) rs760532694 0.00001
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys) rs1159000538 0.00001
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu) rs563800854 0.00001
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met) rs763172498 0.00001
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala) rs1293700251 0.00001
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln) rs767725940 0.00001
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe) rs763429012 0.00001
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys) rs1001689383 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp) rs765647487 0.00001
NM_004369.4(COL6A3):c.6211-9del rs1280994015 0.00001
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser) rs1364892747 0.00001
NM_004369.4(COL6A3):c.6309+4T>G rs1421626951 0.00001
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp) rs1235042491 0.00001
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala) rs746104217 0.00001
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=) rs1349524156 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu) rs761812649 0.00001
NM_004369.4(COL6A3):c.6592-3C>T rs760143724 0.00001
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser) rs1257553370 0.00001
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile) rs376621780 0.00001
NM_004369.4(COL6A3):c.6691-3C>T rs757686067 0.00001
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser) rs1330724943 0.00001
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser) rs749855513 0.00001
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu) rs773775745 0.00001
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr) rs779359869 0.00001
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln) rs777794580 0.00001
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526 0.00001
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala) rs886043576 0.00001
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr) rs778845754 0.00001
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys) rs1282952198 0.00001
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser) rs886044392 0.00001
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys) rs1435064229 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) rs367725413 0.00001
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr) rs886043065 0.00001
NM_004369.4(COL6A3):c.709+4A>G rs1458579992 0.00001
NM_004369.4(COL6A3):c.709+8C>T rs779535244 0.00001
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn) rs778371231 0.00001
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) rs377084627 0.00001
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln) rs748029252 0.00001
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val) rs1462967965 0.00001
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys) rs900113844 0.00001
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg) rs781087176 0.00001
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn) rs1269973980 0.00001
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met) rs747074064 0.00001
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg) rs1445471566 0.00001
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu) rs756868798 0.00001
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) rs794727591 0.00001
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser) rs1009561726 0.00001
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu) rs886055804 0.00001
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala) rs767993846 0.00001
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn) rs756654349 0.00001
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg) rs886044041 0.00001
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe) rs572430889 0.00001
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu) rs778195223 0.00001
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val) rs762902561 0.00001
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln) rs111764507 0.00001
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe) rs141344389 0.00001
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr) rs775790310 0.00001
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly) rs779036168 0.00001
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly) rs886044347 0.00001
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser) rs1335582737 0.00001
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys) rs371361651 0.00001
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg) rs146131332 0.00001
NM_004369.4(COL6A3):c.8465G>A (p.Ser2822Asn) rs1334499975 0.00001
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys) rs755510736 0.00001
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu) rs1296360526 0.00001
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala) rs1218467207 0.00001
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu) rs766551222 0.00001
NM_004369.4(COL6A3):c.8966-6T>C rs756239147 0.00001
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr) rs745651769 0.00001
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg) rs1370564126 0.00001
NM_004369.4(COL6A3):c.9229+4A>C rs749872311 0.00001
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) rs760496428 0.00001
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser) rs1468004640 0.00001
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro) rs886042363 0.00001
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys) rs755613566 0.00001
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser) rs1699901008 0.00001
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu) rs371468515 0.00001
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg) rs781141962 0.00001
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu) rs747183950 0.00001
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile) rs780955667 0.00001
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val) rs780247302 0.00001
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys) rs1769480073 0.00001
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile) rs922525519 0.00001
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg) rs1210901422 0.00001
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro) rs779083996 0.00001
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala) rs1310849098 0.00001
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys) rs970722197 0.00001
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn) rs369309158 0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala) rs201343487 0.00001
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr) rs377285294 0.00001
NM_004370.6(COL12A1):c.1289-3C>T rs375570066 0.00001
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser) rs771816024 0.00001
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile) rs368199250 0.00001
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu) rs770461984 0.00001
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His) rs762385473 0.00001
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly) rs1445434863 0.00001
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp) rs371505180 0.00001
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala) rs753897086 0.00001
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr) rs1292052246 0.00001
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys) rs1440470491 0.00001
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val) rs538463802 0.00001
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile) rs758637945 0.00001
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn) rs370544100 0.00001
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln) rs1478514196 0.00001
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro) rs1202194413 0.00001
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe) rs1031869609 0.00001
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met) rs749609293 0.00001
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala) rs758201181 0.00001
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe) rs756368336 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile) rs1318884120 0.00001
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn) rs1198986280 0.00001
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=) rs370677855 0.00001
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys) rs1341266694 0.00001
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp) rs931765391 0.00001
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala) rs941358850 0.00001
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met) rs1369556861 0.00001
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu) rs368537733 0.00001
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu) rs375671490 0.00001
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met) rs780466316 0.00001
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu) rs539562135 0.00001
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr) rs568432319 0.00001
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly) rs371518967 0.00001
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr) rs1415214085 0.00001
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val) rs774904567 0.00001
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His) rs1768261055 0.00001
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His) rs370188326 0.00001
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His) rs1477957297 0.00001
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser) rs944768236 0.00001
NM_004370.6(COL12A1):c.2983+5G>A rs1064794720 0.00001
NM_004370.6(COL12A1):c.2984-3C>T rs1394199507 0.00001
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys) rs774087407 0.00001
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys) rs760621245 0.00001
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala) rs200490883 0.00001
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile) rs1376226675 0.00001
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val) rs751589202 0.00001
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter) rs1329022055 0.00001
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala) rs1767720355 0.00001
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys) rs1337121359 0.00001
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp) rs749832842 0.00001
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val) rs770692332 0.00001
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu) rs753747530 0.00001
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn) rs1003693918 0.00001
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu) rs990441297 0.00001
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr) rs752018748 0.00001
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met) rs1305647848 0.00001
NM_004370.6(COL12A1):c.3751T>G (p.Trp1251Gly) rs1767529569 0.00001
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile) rs751811370 0.00001
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg) rs1179021269 0.00001
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val) rs759722280 0.00001
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val) rs371419803 0.00001
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe) rs1346687171 0.00001
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe) rs377551270 0.00001
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp) rs1183950908 0.00001
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val) rs1056626609 0.00001
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser) rs750010185 0.00001
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val) rs1353013260 0.00001
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser) rs1220345277 0.00001
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val) rs1267769116 0.00001
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu) rs763614780 0.00001
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile) rs767232468 0.00001
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile) rs771220392 0.00001
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu) rs74383804 0.00001
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser) rs1044813586 0.00001
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn) rs780006734 0.00001
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu) rs1246397590 0.00001
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln) rs775117257 0.00001
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val) rs1172593477 0.00001
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu) rs751657895 0.00001
NM_004370.6(COL12A1):c.511G>C (p.Asp171His) rs748076280 0.00001
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile) rs370108747 0.00001
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser) rs1329724602 0.00001
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg) rs377226722 0.00001
NM_004370.6(COL12A1):c.5251+4A>G rs781348212 0.00001
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys) rs374747725 0.00001
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile) rs201205563 0.00001
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys) rs760210784 0.00001
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys) rs368526865 0.00001
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg) rs558214604 0.00001
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala) rs1461567926 0.00001
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser) rs749681990 0.00001
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr) rs1479368774 0.00001
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg) rs371970739 0.00001
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala) rs750426294 0.00001
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile) rs1239883407 0.00001
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly) rs1370422060 0.00001
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His) rs1766439644 0.00001
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val) rs1416074718 0.00001
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala) rs767796362 0.00001
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr) rs1162295476 0.00001
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg) rs755452261 0.00001
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu) rs1179773170 0.00001
NM_004370.6(COL12A1):c.5888A>G (p.Gln1963Arg) rs1766321428 0.00001
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His) rs1769820873 0.00001
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met) rs376487916 0.00001
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln) rs748657616 0.00001
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met) rs181357263 0.00001
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro) rs1023244422 0.00001
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu) rs776981761 0.00001
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu) rs780058273 0.00001
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu) rs1488658209 0.00001
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp) rs947116571 0.00001
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu) rs373325814 0.00001
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile) rs1385786827 0.00001
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala) rs1390899930 0.00001
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln) rs1769819268 0.00001
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp) rs1366474005 0.00001
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu) rs1366573056 0.00001
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val) rs1339963289 0.00001
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu) rs1467078008 0.00001
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His) rs374545461 0.00001
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro) rs1298620930 0.00001
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile) rs1158867383 0.00001
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu) rs775646975 0.00001
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met) rs1434449708 0.00001
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu) rs1302398240 0.00001
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser) rs1474542485 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys) rs1233096096 0.00001
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val) rs372896052 0.00001
NM_004370.6(COL12A1):c.7210+4T>G rs201950823 0.00001
NM_004370.6(COL12A1):c.7211-3T>C rs766034760 0.00001
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu) rs755614789 0.00001
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys) rs781647177 0.00001
NM_004370.6(COL12A1):c.747G>A (p.Thr249=) rs553802363 0.00001
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala) rs770874037 0.00001
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val) rs761234963 0.00001
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val) rs780133855 0.00001
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu) rs775522044 0.00001
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg) rs770613686 0.00001
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val) rs781269301 0.00001
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly) rs1263587165 0.00001
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser) rs994920789 0.00001
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr) rs767580803 0.00001
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys) rs1384761865 0.00001
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile) rs775684324 0.00001
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe) rs1391973492 0.00001
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val) rs749287325 0.00001
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly) rs1011310040 0.00001
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu) rs755342579 0.00001
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly) rs368105517 0.00001
NM_004370.6(COL12A1):c.8470-3C>A rs1169467662 0.00001
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser) rs376931672 0.00001
NM_004370.6(COL12A1):c.8524-3T>C rs755782718 0.00001
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala) rs758378155 0.00001
NM_004370.6(COL12A1):c.8609C>G (p.Pro2870Arg) rs751638930 0.00001
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr) rs1427337137 0.00001
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val) rs769818518 0.00001
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile) rs1273649550 0.00001
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala) rs761885492 0.00001
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser) rs1216270127 0.00001
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu) rs771010070 0.00001
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His) rs748714098 0.00001
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln) rs778638053 0.00001
NM_004370.6(COL12A1):c.997+6T>C rs377225744 0.00001
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile) rs1426761655 0.00001
NM_004544.4(NDUFA10):c.*105G>A rs886055825 0.00001
NM_004544.4(NDUFA10):c.*1262C>T rs759194775 0.00001
NM_004544.4(NDUFA10):c.*1709T>C rs562457080 0.00001
NM_004544.4(NDUFA10):c.*1927G>C rs1227609332 0.00001
NM_004544.4(NDUFA10):c.*1930C>G rs535714073 0.00001
NM_004544.4(NDUFA10):c.*2192T>A rs886055817 0.00001
NM_004544.4(NDUFA10):c.*2350G>A rs1218747092 0.00001
NM_004544.4(NDUFA10):c.*3143C>T rs1357789210 0.00001
NM_004544.4(NDUFA10):c.*3711A>G rs1466622883 0.00001
NM_004544.4(NDUFA10):c.*445C>G rs563264912 0.00001
NM_004544.4(NDUFA10):c.*489A>G rs886055824 0.00001
NM_004544.4(NDUFA10):c.*804T>C rs1422021026 0.00001
NM_004544.4(NDUFA10):c.*857G>C rs1303822860 0.00001
NM_004544.4(NDUFA10):c.460+5A>G rs1158773739 0.00001
NM_004544.4(NDUFA10):c.63C>G (p.Gly21=) rs980893132 0.00001
NM_004544.4(NDUFA10):c.985C>T (p.His329Tyr) rs1188020120 0.00001
NM_004550.5(NDUFS2):c.-159C>A rs886045456 0.00001
NM_004551.2(NDUFS3):c.-41T>C rs750965789 0.00001
NM_004551.3(NDUFS3):c.34C>T (p.Arg12Cys) rs201457989 0.00001
NM_004551.3(NDUFS3):c.425G>A (p.Arg142His) rs780005953 0.00001
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839 0.00001
NM_004551.3(NDUFS3):c.657G>A (p.Val219=) rs377323760 0.00001
NM_004551.3(NDUFS3):c.737G>A (p.Arg246His) rs201371939 0.00001
NM_004551.3(NDUFS3):c.91T>C (p.Leu31=) rs770306617 0.00001
NM_004553.6(NDUFS6):c.27G>C (p.Arg9=) rs886060512 0.00001
NM_004553.6(NDUFS6):c.306C>T (p.Asn102=) rs773991515 0.00001
NM_004553.6(NDUFS6):c.353A>G (p.Gln118Arg) rs748728259 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) rs1214589149 0.00001
NM_005006.7(NDUFS1):c.*641A>G rs886055501 0.00001
NM_005006.7(NDUFS1):c.*756A>T rs755460274 0.00001
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly) rs1127567 0.00001
NM_005006.7(NDUFS1):c.1363A>G (p.Ile455Val) rs758095913 0.00001
NM_005006.7(NDUFS1):c.1525G>T (p.Asp509Tyr) rs1434275816 0.00001
NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) rs762228459 0.00001
NM_005006.7(NDUFS1):c.2092+9T>C rs1173129542 0.00001
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr) rs765677840 0.00001
NM_005006.7(NDUFS1):c.261+6T>C rs748906579 0.00001
NM_005006.7(NDUFS1):c.280A>G (p.Met94Val) rs763697779 0.00001
NM_005006.7(NDUFS1):c.361T>C (p.Leu121=) rs780235386 0.00001
NM_005006.7(NDUFS1):c.396C>A (p.Asp132Glu) rs757139275 0.00001
NM_005006.7(NDUFS1):c.63T>C (p.Val21=) rs756632601 0.00001
NM_005138.3(SCO2):c.-51C>T rs886057631 0.00001
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) rs781539081 0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) rs747642461 0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) rs780314255 0.00001
NM_005876.5(SPEG):c.1149C>T (p.Arg383=) rs1295142218 0.00001
NM_005876.5(SPEG):c.1612C>T (p.Arg538Trp) rs1381276826 0.00001
NM_005876.5(SPEG):c.2763G>T (p.Glu921Asp) rs956843160 0.00001
NM_005876.5(SPEG):c.3134C>T (p.Thr1045Met) rs62191886 0.00001
NM_005876.5(SPEG):c.3163C>T (p.Arg1055Trp) rs1202116887 0.00001
NM_005876.5(SPEG):c.4129G>A (p.Val1377Met) rs1352203937 0.00001
NM_005876.5(SPEG):c.7442C>T (p.Ser2481Leu) rs1343314943 0.00001
NM_005876.5(SPEG):c.8239C>T (p.Arg2747Cys) rs757903145 0.00001
NM_006063.3(KLHL41):c.1075A>G (p.Asn359Asp) rs143883202 0.00001
NM_006063.3(KLHL41):c.1147C>A (p.Pro383Thr) rs760973350 0.00001
NM_006063.3(KLHL41):c.1174G>A (p.Gly392Ser) rs374204816 0.00001
NM_006063.3(KLHL41):c.1346T>C (p.Ile449Thr) rs1410868438 0.00001
NM_006063.3(KLHL41):c.1460T>C (p.Met487Thr) rs753046029 0.00001
NM_006063.3(KLHL41):c.14G>A (p.Arg5Gln) rs747822404 0.00001
NM_006063.3(KLHL41):c.1516G>T (p.Asp506Tyr) rs746755443 0.00001
NM_006063.3(KLHL41):c.1696A>G (p.Asn566Asp) rs1237694295 0.00001
NM_006063.3(KLHL41):c.1745T>C (p.Leu582Ser) rs940060854 0.00001
NM_006063.3(KLHL41):c.176G>A (p.Arg59His) rs759521852 0.00001
NM_006063.3(KLHL41):c.1794A>C (p.Leu598Phe) rs893355163 0.00001
NM_006063.3(KLHL41):c.193G>A (p.Glu65Lys) rs772174002 0.00001
NM_006063.3(KLHL41):c.209A>T (p.Lys70Ile) rs751688698 0.00001
NM_006063.3(KLHL41):c.437A>C (p.Asp146Ala) rs553091070 0.00001
NM_006063.3(KLHL41):c.530A>C (p.Gln177Pro) rs1053056040 0.00001
NM_006063.3(KLHL41):c.581A>C (p.Glu194Ala) rs201591782 0.00001
NM_006063.3(KLHL41):c.751A>G (p.Lys251Glu) rs777151398 0.00001
NM_006063.3(KLHL41):c.778G>A (p.Ala260Thr) rs766071573 0.00001
NM_006063.3(KLHL41):c.812C>T (p.Ala271Val) rs1304097331 0.00001
NM_006063.3(KLHL41):c.843T>G (p.Asp281Glu) rs773869984 0.00001
NM_006063.3(KLHL41):c.883A>G (p.Ile295Val) rs774846657 0.00001
NM_006063.3(KLHL41):c.959C>T (p.Thr320Met) rs781536513 0.00001
NM_006063.3(KLHL41):c.994C>A (p.Gln332Lys) rs756595110 0.00001
NM_006790.3(MYOT):c.*167A>G rs886059969 0.00001
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1025-3T>C rs1410370327 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) rs902179316 0.00001
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) rs761659382 0.00001
NM_006790.3(MYOT):c.1191C>T (p.Ser397=) rs1430285102 0.00001
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) rs147239483 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) rs587780396 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) rs192257955 0.00001
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) rs755203621 0.00001
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) rs777693396 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu) rs766736443 0.00001
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) rs375274205 0.00001
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) rs757233743 0.00001
NM_006790.3(MYOT):c.191T>A (p.Met64Lys) rs763147610 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu) rs779568205 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala) rs148166751 0.00001
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe) rs997275341 0.00001
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) rs1304612966 0.00001
NM_006790.3(MYOT):c.560G>A (p.Arg187His) rs200273223 0.00001
NM_006790.3(MYOT):c.650A>G (p.His217Arg) rs758565747 0.00001
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) rs781249546 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys) rs760118881 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.816+5G>T rs750433300 0.00001
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) rs374221793 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NM_007078.3(LDB3):c.-20C>T rs531819676 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro) rs755329877 0.00001
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val) rs747011937 0.00001
NM_007078.3(LDB3):c.1129G>A (p.Ala377Thr) rs794729061 0.00001
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser) rs373546361 0.00001
NM_007078.3(LDB3):c.1147A>G (p.Ser383Gly) rs752615115 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1168G>A (p.Ala390Thr) rs748672176 0.00001
NM_007078.3(LDB3):c.11G>A (p.Ser4Asn) rs766405051 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1269T>G (p.Asn423Lys) rs375894985 0.00001
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu) rs776138543 0.00001
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn) rs767914340 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1418C>A (p.Pro473His) rs780427609 0.00001
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu) rs1011836119 0.00001
NM_007078.3(LDB3):c.1446G>A (p.Ala482=) rs745655908 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1480G>A (p.Asp494Asn) rs773233738 0.00001
NM_007078.3(LDB3):c.1486T>G (p.Phe496Val) rs141652573 0.00001
NM_007078.3(LDB3):c.1497G>T (p.Lys499Asn) rs1278770988 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1556C>A (p.Pro519Gln) rs1309491635 0.00001
NM_007078.3(LDB3):c.158A>G (p.Asp53Gly) rs935307586 0.00001
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly) rs1370639524 0.00001
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser) rs760635362 0.00001
NM_007078.3(LDB3):c.1677-19C>T rs749512075 0.00001
NM_007078.3(LDB3):c.1690G>A (p.Val564Ile) rs962296772 0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn) rs730880127 0.00001
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) rs199749907 0.00001
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys) rs1263835922 0.00001
NM_007078.3(LDB3):c.1786G>A (p.Val596Ile) rs727503130 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.1799G>A (p.Arg600Gln) rs747523570 0.00001
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser) rs1349969494 0.00001
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg) rs773554501 0.00001
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala) rs770525232 0.00001
NM_007078.3(LDB3):c.1978G>A (p.Asp660Asn) rs1442071380 0.00001
NM_007078.3(LDB3):c.2026G>A (p.Val676Met) rs549994359 0.00001
NM_007078.3(LDB3):c.2037C>T (p.Gly679=) rs754386652 0.00001
NM_007078.3(LDB3):c.2056C>G (p.Leu686Val) rs910863988 0.00001
NM_007078.3(LDB3):c.2060G>A (p.Gly687Asp) rs1230240655 0.00001
NM_007078.3(LDB3):c.2094+10T>C rs769802374 0.00001
NM_007078.3(LDB3):c.2094+5G>A rs1847251877 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.2123C>T (p.Pro708Leu) rs774815578 0.00001
NM_007078.3(LDB3):c.2135A>G (p.Lys712Arg) rs1451712853 0.00001
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu) rs1054918785 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile) rs397517221 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.269C>G (p.Ser90Cys) rs765975330 0.00001
NM_007078.3(LDB3):c.272C>T (p.Thr91Met) rs769237367 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.30C>G (p.Pro10=) rs766817285 0.00001
NM_007078.3(LDB3):c.31G>A (p.Gly11Arg) rs370493508 0.00001
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu) rs1322226509 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.368G>A (p.Ser123Asn) rs754266629 0.00001
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys) rs1365412037 0.00001
NM_007078.3(LDB3):c.395C>T (p.Thr132Ile) rs146527589 0.00001
NM_007078.3(LDB3):c.415A>G (p.Arg139Gly) rs199801766 0.00001
NM_007078.3(LDB3):c.433G>T (p.Ala145Ser) rs758814399 0.00001
NM_007078.3(LDB3):c.437T>C (p.Phe146Ser) rs1480923559 0.00001
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp) rs536186237 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007078.3(LDB3):c.467C>T (p.Ala156Val) rs1243384140 0.00001
NM_007078.3(LDB3):c.488C>G (p.Pro163Arg) rs776608362 0.00001
NM_007078.3(LDB3):c.501C>A (p.Ser167Arg) rs1183240131 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.54G>T (p.Gln18His) rs149348427 0.00001
NM_007078.3(LDB3):c.56G>C (p.Gly19Ala) rs753314972 0.00001
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu) rs758182278 0.00001
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser) rs1060501318 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007078.3(LDB3):c.650G>A (p.Ser217Asn) rs1246502816 0.00001
NM_007078.3(LDB3):c.689+3902G>A rs1057521576 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys) rs1323002546 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.778G>A (p.Ala260Thr) rs777637914 0.00001
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala) rs1285921374 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys) rs141116920 0.00001
NM_007078.3(LDB3):c.827G>A (p.Arg276His) rs774519585 0.00001
NM_007078.3(LDB3):c.829A>T (p.Ile277Phe) rs78680509 0.00001
NM_007078.3(LDB3):c.845C>T (p.Thr282Met) rs199811186 0.00001
NM_007078.3(LDB3):c.858C>T (p.Phe286=) rs764056994 0.00001
NM_007078.3(LDB3):c.859A>G (p.Met287Val) rs1353972543 0.00001
NM_007078.3(LDB3):c.869C>T (p.Pro290Leu) rs775180716 0.00001
NM_007078.3(LDB3):c.890G>A (p.Arg297Lys) rs1266510625 0.00001
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala) rs953198544 0.00001
NM_007078.3(LDB3):c.896+5G>A rs368078924 0.00001
NM_007078.3(LDB3):c.897-11C>G rs766463668 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.897-6719C>T rs975012427 0.00001
NM_007078.3(LDB3):c.897-6861G>A rs1458669091 0.00001
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu) rs544084461 0.00001
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu) rs955622381 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile) rs367882377 0.00001
NM_007078.3(LDB3):c.940A>G (p.Thr314Ala) rs756910859 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007078.3(LDB3):c.991G>A (p.Ala331Thr) rs749520121 0.00001
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.1308+7A>T rs767679135 0.00001
NM_007103.4(NDUFV1):c.343G>A (p.Val115Met) rs751551838 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys) rs1017020344 0.00001
NM_007215.4(POLG2):c.1444G>T (p.Ala482Ser) rs376087529 0.00001
NM_007215.4(POLG2):c.367G>A (p.Glu123Lys) rs377428467 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007215.4(POLG2):c.562G>C (p.Gly188Arg) rs1339478122 0.00001
NM_014165.4(NDUFAF4):c.*1728G>A rs1775284209 0.00001
NM_014165.4(NDUFAF4):c.*1748T>C rs886061823 0.00001
NM_014165.4(NDUFAF4):c.189G>C (p.Ser63=) rs760918613 0.00001
NM_015602.4(TOR1AIP1):c.1010G>A (p.Arg337Gln) rs576474780 0.00001
NM_015602.4(TOR1AIP1):c.1012T>C (p.Trp338Arg) rs769461759 0.00001
NM_015602.4(TOR1AIP1):c.101C>A (p.Pro34His) rs771167764 0.00001
NM_015602.4(TOR1AIP1):c.112G>A (p.Gly38Ser) rs777102321 0.00001
NM_015602.4(TOR1AIP1):c.1163A>C (p.Lys388Thr) rs367617812 0.00001
NM_015602.4(TOR1AIP1):c.1241C>G (p.Ala414Gly) rs757678339 0.00001
NM_015602.4(TOR1AIP1):c.1282C>G (p.Gln428Glu) rs772076024 0.00001
NM_015602.4(TOR1AIP1):c.1327C>T (p.Arg443Trp) rs763037095 0.00001
NM_015602.4(TOR1AIP1):c.139A>C (p.Thr47Pro) rs1553240716 0.00001
NM_015602.4(TOR1AIP1):c.142C>T (p.Pro48Ser) rs765495241 0.00001
NM_015602.4(TOR1AIP1):c.1465A>G (p.Thr489Ala) rs375127929 0.00001
NM_015602.4(TOR1AIP1):c.1711G>T (p.Val571Leu) rs908965605 0.00001
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr) rs775375281 0.00001
NM_015602.4(TOR1AIP1):c.286A>G (p.Lys96Glu) rs1647762682 0.00001
NM_015602.4(TOR1AIP1):c.308C>T (p.Ala103Val) rs777465166 0.00001
NM_015602.4(TOR1AIP1):c.35G>A (p.Arg12Gln) rs780125585 0.00001
NM_015602.4(TOR1AIP1):c.366G>A (p.Met122Ile) rs766817911 0.00001
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met) rs377375784 0.00001
NM_015602.4(TOR1AIP1):c.380C>T (p.Thr127Ile) rs200812894 0.00001
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu) rs760733600 0.00001
NM_015602.4(TOR1AIP1):c.43T>C (p.Trp15Arg) rs748263394 0.00001
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr) rs1376862055 0.00001
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln) rs773422033 0.00001
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn) rs1647780800 0.00001
NM_015602.4(TOR1AIP1):c.47G>T (p.Gly16Val) rs773770986 0.00001
NM_015602.4(TOR1AIP1):c.581G>A (p.Arg194His) rs761858266 0.00001
NM_015602.4(TOR1AIP1):c.755C>T (p.Ser252Leu) rs1198939008 0.00001
NM_015602.4(TOR1AIP1):c.794A>G (p.Gln265Arg) rs768807943 0.00001
NM_015602.4(TOR1AIP1):c.79G>A (p.Glu27Lys) rs750432849 0.00001
NM_015602.4(TOR1AIP1):c.80A>T (p.Glu27Val) rs1647741420 0.00001
NM_015602.4(TOR1AIP1):c.83G>A (p.Gly28Glu) rs1008146553 0.00001
NM_015602.4(TOR1AIP1):c.88G>C (p.Gly30Arg) rs779312410 0.00001
NM_015602.4(TOR1AIP1):c.907A>G (p.Asn303Asp) rs770895707 0.00001
NM_015602.4(TOR1AIP1):c.962G>A (p.Arg321Gln) rs1045988718 0.00001
NM_015602.4(TOR1AIP1):c.964+5G>A rs561816881 0.00001
NM_015602.4(TOR1AIP1):c.965-3T>C rs755443913 0.00001
NM_015713.5(RRM2B):c.*1522A>G rs889321989 0.00001
NM_015713.5(RRM2B):c.*1664T>A rs1810545907 0.00001
NM_015713.5(RRM2B):c.*2960G>A rs886062561 0.00001
NM_015713.5(RRM2B):c.*3125T>C rs886062560 0.00001
NM_015713.5(RRM2B):c.*3289A>G rs569359604 0.00001
NM_015713.5(RRM2B):c.-1G>C rs1437655477 0.00001
NM_015713.5(RRM2B):c.119G>A (p.Arg40His) rs765953819 0.00001
NM_015713.5(RRM2B):c.162A>G (p.Lys54=) rs746927643 0.00001
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser) rs751231428 0.00001
NM_015713.5(RRM2B):c.503A>G (p.Lys168Arg) rs886062571 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NM_016013.4(NDUFAF1):c.238G>C (p.Val80Leu) rs1406147170 0.00001
NM_016013.4(NDUFAF1):c.284G>A (p.Arg95Lys) rs759057658 0.00001
NM_016013.4(NDUFAF1):c.429G>A (p.Thr143=) rs764849578 0.00001
NM_016013.4(NDUFAF1):c.701A>G (p.Asn234Ser) rs759432475 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 0.00001
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp) rs774619141 0.00001
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln) rs761981569 0.00001
NM_017534.6(MYH2):c.*131T>C rs1407636374 0.00001
NM_017534.6(MYH2):c.1046A>G (p.Lys349Arg) rs748792149 0.00001
NM_017534.6(MYH2):c.112G>A (p.Val38Ile) rs1273237983 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.1267G>A (p.Val423Met) rs1433670000 0.00001
NM_017534.6(MYH2):c.1306G>A (p.Glu436Lys) rs756281353 0.00001
NM_017534.6(MYH2):c.130A>G (p.Lys44Glu) rs769767111 0.00001
NM_017534.6(MYH2):c.1381G>A (p.Gly461Arg) rs1238892450 0.00001
NM_017534.6(MYH2):c.1492G>A (p.Val498Met) rs374726398 0.00001
NM_017534.6(MYH2):c.1543G>A (p.Asp515Asn) rs372386851 0.00001
NM_017534.6(MYH2):c.1546T>G (p.Phe516Val) rs894307740 0.00001
NM_017534.6(MYH2):c.1711G>A (p.Val571Met) rs778226679 0.00001
NM_017534.6(MYH2):c.1741G>A (p.Ala581Thr) rs757972369 0.00001
NM_017534.6(MYH2):c.1763T>C (p.Val588Ala) rs753668463 0.00001
NM_017534.6(MYH2):c.1879G>T (p.Ala627Ser) rs778516827 0.00001
NM_017534.6(MYH2):c.1927G>A (p.Gly643Ser) rs781153789 0.00001
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser) rs761148856 0.00001
NM_017534.6(MYH2):c.2057C>A (p.Thr686Asn) rs767880435 0.00001
NM_017534.6(MYH2):c.2071G>A (p.Glu691Lys) rs972757672 0.00001
NM_017534.6(MYH2):c.2077G>A (p.Glu693Lys) rs1426839625 0.00001
NM_017534.6(MYH2):c.2092C>G (p.Gln698Glu) rs142443410 0.00001
NM_017534.6(MYH2):c.212C>T (p.Thr71Ile) rs145472283 0.00001
NM_017534.6(MYH2):c.2273A>C (p.Asp758Ala) rs758731503 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.2390G>T (p.Arg797Met) rs771139007 0.00001
NM_017534.6(MYH2):c.239T>C (p.Met80Thr) rs764144162 0.00001
NM_017534.6(MYH2):c.2468A>G (p.Asn823Ser) rs1378547305 0.00001
NM_017534.6(MYH2):c.2602G>A (p.Glu868Lys) rs267604724 0.00001
NM_017534.6(MYH2):c.2617G>A (p.Glu873Lys) rs770099846 0.00001
NM_017534.6(MYH2):c.2654C>T (p.Thr885Met) rs150566222 0.00001
NM_017534.6(MYH2):c.2671A>G (p.Asn891Asp) rs763476894 0.00001
NM_017534.6(MYH2):c.2789A>G (p.Glu930Gly) rs1335748239 0.00001
NM_017534.6(MYH2):c.2800G>A (p.Asp934Asn) rs201945489 0.00001
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys) rs1373237213 0.00001
NM_017534.6(MYH2):c.2940G>C (p.Lys980Asn) rs2073403461 0.00001
NM_017534.6(MYH2):c.2963T>A (p.Met988Lys) rs749824406 0.00001
NM_017534.6(MYH2):c.2987C>T (p.Ala996Val) rs201793838 0.00001
NM_017534.6(MYH2):c.3027C>G (p.His1009Gln) rs761382091 0.00001
NM_017534.6(MYH2):c.3046C>G (p.Leu1016Val) rs771807032 0.00001
NM_017534.6(MYH2):c.3124G>A (p.Gly1042Arg) rs2073398000 0.00001
NM_017534.6(MYH2):c.3214A>T (p.Ile1072Leu) rs2073396485 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.3354+6T>C rs759993294 0.00001
NM_017534.6(MYH2):c.3358C>T (p.Arg1120Cys) rs756255059 0.00001
NM_017534.6(MYH2):c.3395G>A (p.Arg1132Gln) rs778993350 0.00001
NM_017534.6(MYH2):c.3424C>T (p.Arg1142Cys) rs752906702 0.00001
NM_017534.6(MYH2):c.3430G>C (p.Asp1144His) rs2073390411 0.00001
NM_017534.6(MYH2):c.348C>T (p.Tyr116=) rs570034593 0.00001
NM_017534.6(MYH2):c.3518G>A (p.Arg1173Gln) rs886043621 0.00001
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys) rs201768483 0.00001
NM_017534.6(MYH2):c.3567A>G (p.Leu1189=) rs886052565 0.00001
NM_017534.6(MYH2):c.3571C>T (p.His1191Tyr) rs938797010 0.00001
NM_017534.6(MYH2):c.3574G>A (p.Glu1192Lys) rs780122233 0.00001
NM_017534.6(MYH2):c.3584C>T (p.Ala1195Val) rs373108053 0.00001
NM_017534.6(MYH2):c.3604C>T (p.His1202Tyr) rs764501722 0.00001
NM_017534.6(MYH2):c.3611A>G (p.Asp1204Gly) rs2073386786 0.00001
NM_017534.6(MYH2):c.3622G>A (p.Glu1208Lys) rs546948489 0.00001
NM_017534.6(MYH2):c.3653G>A (p.Arg1218Gln) rs139755852 0.00001
NM_017534.6(MYH2):c.3745-3T>C rs1305490194 0.00001
NM_017534.6(MYH2):c.3767G>A (p.Arg1256Gln) rs141448415 0.00001
NM_017534.6(MYH2):c.3785T>G (p.Leu1262Arg) rs1178928941 0.00001
NM_017534.6(MYH2):c.3839C>T (p.Thr1280Ile) rs886052564 0.00001
NM_017534.6(MYH2):c.3842C>T (p.Ala1281Val) rs756055649 0.00001
NM_017534.6(MYH2):c.3941T>C (p.Phe1314Ser) rs766227489 0.00001
NM_017534.6(MYH2):c.3946C>A (p.Gln1316Lys) rs554431336 0.00001
NM_017534.6(MYH2):c.3950A>C (p.Gln1317Pro) rs1380534578 0.00001
NM_017534.6(MYH2):c.4084G>A (p.Glu1362Lys) rs772043473 0.00001
NM_017534.6(MYH2):c.4103C>T (p.Ser1368Phe) rs754037459 0.00001
NM_017534.6(MYH2):c.4117G>A (p.Glu1373Lys) rs374190003 0.00001
NM_017534.6(MYH2):c.4144G>A (p.Glu1382Lys) rs2073357858 0.00001
NM_017534.6(MYH2):c.4154C>T (p.Ala1385Val) rs1406857706 0.00001
NM_017534.6(MYH2):c.4158C>A (p.Ile1386=) rs778626880 0.00001
NM_017534.6(MYH2):c.4162C>T (p.Arg1388Cys) rs140775405 0.00001
NM_017534.6(MYH2):c.4199C>T (p.Ala1400Val) rs770023922 0.00001
NM_017534.6(MYH2):c.4243G>A (p.Ala1415Thr) rs755848527 0.00001
NM_017534.6(MYH2):c.4252G>T (p.Ala1418Ser) rs752335450 0.00001
NM_017534.6(MYH2):c.4261G>A (p.Glu1421Lys) rs368304404 0.00001
NM_017534.6(MYH2):c.4291G>A (p.Val1431Ile) rs776820408 0.00001
NM_017534.6(MYH2):c.4294G>A (p.Glu1432Lys) rs747081221 0.00001
NM_017534.6(MYH2):c.4330G>A (p.Ala1444Thr) rs142908651 0.00001
NM_017534.6(MYH2):c.4366G>A (p.Asp1456Asn) rs761573741 0.00001
NM_017534.6(MYH2):c.4369A>G (p.Lys1457Glu) rs776886264 0.00001
NM_017534.6(MYH2):c.4424C>A (p.Ala1475Asp) rs938120515 0.00001
NM_017534.6(MYH2):c.4441C>T (p.Arg1481Cys) rs990939157 0.00001
NM_017534.6(MYH2):c.4517G>A (p.Arg1506Gln) rs1049022189 0.00001
NM_017534.6(MYH2):c.4696C>T (p.Arg1566Cys) rs529367667 0.00001
NM_017534.6(MYH2):c.474C>G (p.Ile158Met) rs780719632 0.00001
NM_017534.6(MYH2):c.4817C>T (p.Thr1606Met) rs768621451 0.00001
NM_017534.6(MYH2):c.4919G>A (p.Arg1640His) rs772914345 0.00001
NM_017534.6(MYH2):c.4961G>C (p.Gly1654Ala) rs1126556 0.00001
NM_017534.6(MYH2):c.4966C>T (p.Leu1656Phe) rs369083161 0.00001
NM_017534.6(MYH2):c.5030T>G (p.Leu1677Arg) rs2073325642 0.00001
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln) rs1321342402 0.00001
NM_017534.6(MYH2):c.509G>A (p.Arg170Gln) rs778801023 0.00001
NM_017534.6(MYH2):c.5149G>A (p.Glu1717Lys) rs1479754797 0.00001
NM_017534.6(MYH2):c.5192A>G (p.Asn1731Ser) rs776712165 0.00001
NM_017534.6(MYH2):c.5210A>C (p.Glu1737Ala) rs760648896 0.00001
NM_017534.6(MYH2):c.5261C>T (p.Ala1754Val) rs747877150 0.00001
NM_017534.6(MYH2):c.5294T>A (p.Ile1765Asn) rs139621607 0.00001
NM_017534.6(MYH2):c.52C>T (p.Arg18Ter) rs769712128 0.00001
NM_017534.6(MYH2):c.5323C>G (p.Leu1775Val) rs753602134 0.00001
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile) rs756953958 0.00001
NM_017534.6(MYH2):c.5345G>A (p.Ser1782Asn) rs1178820376 0.00001
NM_017534.6(MYH2):c.5347G>A (p.Ala1783Thr) rs759668950 0.00001
NM_017534.6(MYH2):c.5360G>A (p.Arg1787Gln) rs770182875 0.00001
NM_017534.6(MYH2):c.5362A>G (p.Met1788Val) rs572874607 0.00001
NM_017534.6(MYH2):c.5386G>A (p.Val1796Met) rs778350338 0.00001
NM_017534.6(MYH2):c.5404C>T (p.Arg1802Cys) rs746710734 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017534.6(MYH2):c.5545C>T (p.His1849Tyr) rs1555569647 0.00001
NM_017534.6(MYH2):c.5564A>G (p.Glu1855Gly) rs200726747 0.00001
NM_017534.6(MYH2):c.5566C>T (p.Leu1856Phe) rs1488236141 0.00001
NM_017534.6(MYH2):c.5607G>C (p.Arg1869Ser) rs370387304 0.00001
NM_017534.6(MYH2):c.5707C>T (p.Arg1903Cys) rs777766586 0.00001
NM_017534.6(MYH2):c.571C>T (p.Arg191Cys) rs770369215 0.00001
NM_017534.6(MYH2):c.572G>A (p.Arg191His) rs778659452 0.00001
NM_017534.6(MYH2):c.5737G>A (p.Glu1913Lys) rs1350545511 0.00001
NM_017534.6(MYH2):c.5765A>G (p.Gln1922Arg) rs1350620712 0.00001
NM_017534.6(MYH2):c.5777T>G (p.Leu1926Arg) rs756130400 0.00001
NM_017534.6(MYH2):c.5786A>G (p.Lys1929Arg) rs1197611302 0.00001
NM_017534.6(MYH2):c.5792G>A (p.Arg1931Gln) rs763107075 0.00001
NM_017534.6(MYH2):c.620A>T (p.Lys207Met) rs373306322 0.00001
NM_017534.6(MYH2):c.649G>A (p.Gly217Arg) rs1204821136 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017534.6(MYH2):c.713C>T (p.Thr238Ile) rs965291972 0.00001
NM_017534.6(MYH2):c.737G>A (p.Arg246His) rs773713563 0.00001
NM_017534.6(MYH2):c.814G>C (p.Glu272Gln) rs2073575845 0.00001
NM_017534.6(MYH2):c.881C>T (p.Ser294Leu) rs2073575109 0.00001
NM_017534.6(MYH2):c.986A>G (p.Gln329Arg) rs1023760701 0.00001
NM_017547.4(FOXRED1):c.*211T>C rs1245337651 0.00001
NM_017547.4(FOXRED1):c.*392G>A rs886047983 0.00001
NM_017547.4(FOXRED1):c.*85T>C rs372575072 0.00001
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) rs1036245067 0.00001
NM_017547.4(FOXRED1):c.307-14T>C rs541684918 0.00001
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) rs140745629 0.00001
NM_017547.4(FOXRED1):c.537-11G>A rs199599636 0.00001
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680 0.00001
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982 0.00001
NM_018116.4(MSTO1):c.1024G>A (p.Val342Ile) rs764746264 0.00001
NM_020451.3(SELENON):c.1055G>A (p.Ser352Asn) rs749342493 0.00001
NM_020451.3(SELENON):c.1082A>G (p.Tyr361Cys) rs749968347 0.00001
NM_020451.3(SELENON):c.1243G>A (p.Ala415Thr) rs953899916 0.00001
NM_020451.3(SELENON):c.1246C>T (p.Arg416Trp) rs369207232 0.00001
NM_020451.3(SELENON):c.1281+15_1281+25dup rs1402844279 0.00001
NM_020451.3(SELENON):c.1337T>C (p.Leu446Pro) rs1257737257 0.00001
NM_020451.3(SELENON):c.1348A>G (p.Ile450Val) rs1472493197 0.00001
NM_020451.3(SELENON):c.1378T>C (p.Ser460Pro) rs1227306514 0.00001
NM_020451.3(SELENON):c.1387+6G>A rs1318995344 0.00001
NM_020451.3(SELENON):c.1421A>G (p.Glu474Gly) rs772460886 0.00001
NM_020451.3(SELENON):c.1495C>G (p.Leu499Val) rs760671117 0.00001
NM_020451.3(SELENON):c.1498C>G (p.Gln500Glu) rs763724398 0.00001
NM_020451.3(SELENON):c.1500+6C>T rs1245353353 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.1607A>G (p.His536Arg) rs758653293 0.00001
NM_020451.3(SELENON):c.1663G>A (p.Glu555Lys) rs1187861214 0.00001
NM_020451.3(SELENON):c.1735G>A (p.Glu579Lys) rs765368764 0.00001
NM_020451.3(SELENON):c.1748G>A (p.Arg583His) rs771563318 0.00001
NM_020451.3(SELENON):c.1765C>T (p.Gln589Ter) rs374398346 0.00001
NM_020451.3(SELENON):c.176C>A (p.Ala59Glu) rs970390100 0.00001
NM_020451.3(SELENON):c.205G>C (p.Gly69Arg) rs779935621 0.00001
NM_020451.3(SELENON):c.206G>A (p.Gly69Glu) rs746738124 0.00001
NM_020451.3(SELENON):c.28G>C (p.Gly10Arg) rs1174797000 0.00001
NM_020451.3(SELENON):c.372G>A (p.Trp124Ter) rs934913626 0.00001
NM_020451.3(SELENON):c.482G>A (p.Arg161Gln) rs765749301 0.00001
NM_020451.3(SELENON):c.521A>C (p.Lys174Thr) rs770305372 0.00001
NM_020451.3(SELENON):c.581C>T (p.Ala194Val) rs727504148 0.00001
NM_020451.3(SELENON):c.608C>T (p.Thr203Ile) rs755740382 0.00001
NM_020451.3(SELENON):c.610C>T (p.Arg204Cys) rs754161311 0.00001
NM_020451.3(SELENON):c.611G>A (p.Arg204His) rs757780272 0.00001
NM_020451.3(SELENON):c.715C>T (p.Arg239Cys) rs749100423 0.00001
NM_020451.3(SELENON):c.730C>T (p.Pro244Ser) rs775003175 0.00001
NM_020451.3(SELENON):c.761G>A (p.Arg254Gln) rs779808108 0.00001
NM_020451.3(SELENON):c.781C>T (p.Pro261Ser) rs1270929673 0.00001
NM_020451.3(SELENON):c.784C>T (p.Arg262Trp) rs746994841 0.00001
NM_020451.3(SELENON):c.793G>A (p.Val265Met) rs1364075867 0.00001
NM_020451.3(SELENON):c.847G>A (p.Asp283Asn) rs760149813 0.00001
NM_020451.3(SELENON):c.871C>T (p.Arg291Trp) rs757446463 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020451.3(SELENON):c.935A>G (p.Gln312Arg) rs775897489 0.00001
NM_020451.3(SELENON):c.976G>A (p.Val326Ile) rs764032922 0.00001
NM_020451.3(SELENON):c.979C>T (p.Arg327Cys) rs753400008 0.00001
NM_020451.3(SELENON):c.982G>A (p.Asp328Asn) rs771240009 0.00001
NM_021074.4(NDUFV2):c.-98G>T rs886054123 0.00001
NM_021074.5(NDUFV2):c.*57C>T rs977177603 0.00001
NM_021074.5(NDUFV2):c.120+1G>C rs749991624 0.00001
NM_021074.5(NDUFV2):c.435dup (p.Asp146Ter) rs771236417 0.00001
NM_021074.5(NDUFV2):c.6C>T (p.Phe2=) rs547252886 0.00001
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_024407.5(NDUFS7):c.*8G>A rs756081375 0.00001
NM_024407.5(NDUFS7):c.*94G>A rs1329105128 0.00001
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388 0.00001
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=) rs1193585808 0.00001
NM_025152.2(NUBPL):c.-39G>A rs886050446 0.00001
NM_025152.3(NUBPL):c.*135T>G rs377738028 0.00001
NM_025152.3(NUBPL):c.*1963C>A rs1164142579 0.00001
NM_025152.3(NUBPL):c.*527G>A rs560274677 0.00001
NM_025152.3(NUBPL):c.*638C>G rs886050454 0.00001
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450 0.00001
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447 0.00001
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) rs765747555 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110 0.00001
NM_025215.5(PUS1):c.-457G>C rs1033621386 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_032578.4(MYPN):c.1306G>A (p.Val436Met) rs1172083148 0.00001
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg) rs770366905 0.00001
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe) rs749716693 0.00001
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp) rs935247269 0.00001
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly) rs767800921 0.00001
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys) rs794729072 0.00001
NM_032578.4(MYPN):c.2051C>G (p.Ser684Cys) rs577089308 0.00001
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr) rs1386715407 0.00001
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp) rs529221329 0.00001
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr) rs200432306 0.00001
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln) rs771428473 0.00001
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr) rs763043084 0.00001
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu) rs1477487826 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn) rs769591145 0.00001
NM_032578.4(MYPN):c.308A>T (p.Asp103Val) rs758026056 0.00001
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro) rs374007615 0.00001
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg) rs900098416 0.00001
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His) rs763362861 0.00001
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser) rs748574829 0.00001
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg) rs752302519 0.00001
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg) rs763805681 0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr) rs869025490 0.00001
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly) rs2043722325 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu) rs781048271 0.00001
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr) rs755212697 0.00001
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys) rs1265232754 0.00001
NM_032578.4(MYPN):c.865G>T (p.Asp289Tyr) rs201460662 0.00001
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys) rs1299051222 0.00001
NM_032608.7(MYO18B):c.2135G>A (p.Arg712His) rs772067339 0.00001
NM_032608.7(MYO18B):c.2488A>G (p.Ile830Val) rs544705080 0.00001
NM_032608.7(MYO18B):c.7157G>T (p.Cys2386Phe) rs754267663 0.00001
NM_032608.7(MYO18B):c.988G>A (p.Gly330Ser) rs764491130 0.00001
NM_032790.4(ORAI1):c.649G>A (p.Ala217Thr) rs782438034 0.00001
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile) rs139322919 0.00001
NM_133379.5(TTN):c.11360del (p.Glu3787fs) rs1309605744 0.00001
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu) rs200512885 0.00001
NM_133379.5(TTN):c.14139C>T (p.Asp4713=) rs371388583 0.00001
NM_133379.5(TTN):c.15379A>G (p.Thr5127Ala) rs745702519 0.00001
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter) rs397517821 0.00001
NM_133379.5(TTN):c.16529del (p.Val5510fs) rs774991940 0.00001
NM_138638.5(CFL2):c.*1070G>A rs767101584 0.00001
NM_138638.5(CFL2):c.*2248G>A rs1315039573 0.00001
NM_138638.5(CFL2):c.17C>G (p.Thr6Arg) rs758040099 0.00001
NM_138638.5(CFL2):c.4-172C>T rs190226324 0.00001
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala) rs1004680147 0.00001
NM_139343.2(BIN1):c.-272G>A rs886054842 0.00001
NM_139343.3(BIN1):c.*243T>G rs886054831 0.00001
NM_139343.3(BIN1):c.*413G>A rs886054829 0.00001
NM_139343.3(BIN1):c.*449G>A rs369704619 0.00001
NM_139343.3(BIN1):c.1018C>T (p.Pro340Ser) rs1405949552 0.00001
NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) rs775494528 0.00001
NM_139343.3(BIN1):c.1072A>G (p.Ile358Val) rs1355424178 0.00001
NM_139343.3(BIN1):c.1075C>T (p.Leu359Phe) rs965561469 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1094C>T (p.Thr365Met) rs577812854 0.00001
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1156G>A (p.Glu386Lys) rs1268978517 0.00001
NM_139343.3(BIN1):c.1198C>A (p.Pro400Thr) rs769252326 0.00001
NM_139343.3(BIN1):c.1240T>G (p.Ser414Ala) rs777951748 0.00001
NM_139343.3(BIN1):c.1271A>G (p.Glu424Gly) rs1468092156 0.00001
NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) rs886054834 0.00001
NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile) rs769199881 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_139343.3(BIN1):c.1461+6A>T rs972060066 0.00001
NM_139343.3(BIN1):c.1516G>A (p.Val506Met) rs371571307 0.00001
NM_139343.3(BIN1):c.1537G>A (p.Gly513Arg) rs777452575 0.00001
NM_139343.3(BIN1):c.1538G>A (p.Gly513Glu) rs755351031 0.00001
NM_139343.3(BIN1):c.1545G>T (p.Leu515Phe) rs763458588 0.00001
NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg) rs765354438 0.00001
NM_139343.3(BIN1):c.155A>G (p.Asn52Ser) rs369549551 0.00001
NM_139343.3(BIN1):c.165+6T>C rs763931802 0.00001
NM_139343.3(BIN1):c.1670A>T (p.Glu557Val) rs774321875 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.1691T>C (p.Met564Thr) rs1682474004 0.00001
NM_139343.3(BIN1):c.1696G>A (p.Val566Met) rs761759946 0.00001
NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) rs759691190 0.00001
NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser) rs1466748456 0.00001
NM_139343.3(BIN1):c.322G>A (p.Asp108Asn) rs532260569 0.00001
NM_139343.3(BIN1):c.330G>A (p.Leu110=) rs746946704 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.434G>A (p.Arg145His) rs1219115067 0.00001
NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) rs764377144 0.00001
NM_139343.3(BIN1):c.519+4A>G rs1429919147 0.00001
NM_139343.3(BIN1):c.520-3C>A rs1455432609 0.00001
NM_139343.3(BIN1):c.527C>T (p.Ser176Leu) rs776075897 0.00001
NM_139343.3(BIN1):c.550C>G (p.Gln184Glu) rs777940512 0.00001
NM_139343.3(BIN1):c.57G>C (p.Gln19His) rs142657993 0.00001
NM_139343.3(BIN1):c.604C>T (p.Arg202Ter) rs762897872 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_139343.3(BIN1):c.730A>G (p.Ser244Gly) rs777898974 0.00001
NM_139343.3(BIN1):c.767T>C (p.Met256Thr) rs975404965 0.00001
NM_139343.3(BIN1):c.784A>C (p.Asn262His) rs1331854784 0.00001
NM_139343.3(BIN1):c.84+1G>A rs1364583460 0.00001
NM_139343.3(BIN1):c.85-5G>A rs371593265 0.00001
NM_139343.3(BIN1):c.887G>A (p.Ser296Asn) rs1490772170 0.00001
NM_139343.3(BIN1):c.889C>A (p.Pro297Thr) rs1160778854 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NM_139343.3(BIN1):c.946C>T (p.Pro316Ser) rs748381039 0.00001
NM_139343.3(BIN1):c.952C>T (p.Pro318Ser) rs781377841 0.00001
NM_139343.3(BIN1):c.967A>T (p.Thr323Ser) rs753614814 0.00001
NM_145064.3(STAC3):c.170G>T (p.Gly57Val) rs1027548586 0.00001
NM_145064.3(STAC3):c.187A>G (p.Ile63Val) rs772643404 0.00001
NM_145064.3(STAC3):c.259G>A (p.Asp87Asn) rs776406787 0.00001
NM_145064.3(STAC3):c.280G>A (p.Asp94Asn) rs368386121 0.00001
NM_145064.3(STAC3):c.339C>A (p.Asn113Lys) rs763684159 0.00001
NM_145064.3(STAC3):c.393_395dup (p.Cys131_Gln132insHis) rs765764018 0.00001
NM_145064.3(STAC3):c.436C>G (p.Pro146Ala) rs754562509 0.00001
NM_145064.3(STAC3):c.517C>T (p.Arg173Cys) rs1404488985 0.00001
NM_145064.3(STAC3):c.521A>G (p.Asn174Ser) rs1038718298 0.00001
NM_145064.3(STAC3):c.574C>T (p.Arg192Trp) rs1202021365 0.00001
NM_145064.3(STAC3):c.630G>T (p.Glu210Asp) rs758788446 0.00001
NM_145064.3(STAC3):c.670+3del rs1236144994 0.00001
NM_145064.3(STAC3):c.774C>G (p.Phe258Leu) rs922499167 0.00001
NM_152263.4(TPM3):c.*1097C>T rs886045310 0.00001
NM_152263.4(TPM3):c.*1152C>T rs535068015 0.00001
NM_152263.4(TPM3):c.*1521G>T rs949522786 0.00001
NM_152263.4(TPM3):c.*1652G>A rs543538969 0.00001
NM_152263.4(TPM3):c.*2053G>C rs969372773 0.00001
NM_152263.4(TPM3):c.*2116T>C rs886045307 0.00001
NM_152263.4(TPM3):c.*2240C>T rs561949016 0.00001
NM_152263.4(TPM3):c.*254G>A rs1286827899 0.00001
NM_152263.4(TPM3):c.*2630T>A rs767983989 0.00001
NM_152263.4(TPM3):c.*283G>C rs886045316 0.00001
NM_152263.4(TPM3):c.*312A>G rs1251165733 0.00001
NM_152263.4(TPM3):c.*4287A>G rs1383649289 0.00001
NM_152263.4(TPM3):c.*4525G>T rs886045295 0.00001
NM_152263.4(TPM3):c.*46C>T rs777118586 0.00001
NM_152263.4(TPM3):c.*4872A>G rs1660550689 0.00001
NM_152263.4(TPM3):c.*5437G>A rs929840818 0.00001
NM_152263.4(TPM3):c.*5901G>C rs1287850337 0.00001
NM_152263.4(TPM3):c.*88G>T rs1306456266 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.642+4G>T rs1462764945 0.00001
NM_152263.4(TPM3):c.643-3C>T rs529845435 0.00001
NM_152263.4(TPM3):c.65G>A (p.Arg22Gln) rs1553251640 0.00001
NM_152263.4(TPM3):c.680A>G (p.Lys227Arg) rs201202440 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.788C>G (p.Ala263Gly) rs1455676920 0.00001
NM_152263.4(TPM3):c.816C>G (p.Ser272Arg) rs536564074 0.00001
NM_152263.4(TPM3):c.829C>A (p.His277Asn) rs747794605 0.00001
NM_152263.4(TPM3):c.832G>A (p.Ala278Thr) rs377438824 0.00001
NM_152263.4(TPM3):c.835C>G (p.Leu279Val) rs186253666 0.00001
NM_152263.4(TPM3):c.844A>G (p.Met282Val) rs1661325667 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_152393.4(KLHL40):c.1019G>C (p.Cys340Ser) rs758244161 0.00001
NM_152393.4(KLHL40):c.1097G>A (p.Gly366Asp) rs952832025 0.00001
NM_152393.4(KLHL40):c.1152+4C>T rs1553680497 0.00001
NM_152393.4(KLHL40):c.1196C>T (p.Pro399Leu) rs770413516 0.00001
NM_152393.4(KLHL40):c.1246G>A (p.Val416Met) rs759198473 0.00001
NM_152393.4(KLHL40):c.1276G>A (p.Glu426Lys) rs760403231 0.00001
NM_152393.4(KLHL40):c.1312C>T (p.Leu438=) rs200589852 0.00001
NM_152393.4(KLHL40):c.1334C>T (p.Ser445Leu) rs375891897 0.00001
NM_152393.4(KLHL40):c.1345C>T (p.Pro449Ser) rs1194342086 0.00001
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val) rs776547008 0.00001
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) rs773720799 0.00001
NM_152393.4(KLHL40):c.1615C>T (p.Pro539Ser) rs758550223 0.00001
NM_152393.4(KLHL40):c.1616C>T (p.Pro539Leu) rs780261738 0.00001
NM_152393.4(KLHL40):c.1652G>A (p.Ser551Asn) rs373194829 0.00001
NM_152393.4(KLHL40):c.1673C>A (p.Thr558Asn) rs775375049 0.00001
NM_152393.4(KLHL40):c.1735G>A (p.Glu579Lys) rs756584441 0.00001
NM_152393.4(KLHL40):c.1810G>T (p.Ala604Ser) rs1274671626 0.00001
NM_152393.4(KLHL40):c.1844T>C (p.Val615Ala) rs1383540575 0.00001
NM_152393.4(KLHL40):c.193G>A (p.Glu65Lys) rs779869498 0.00001
NM_152393.4(KLHL40):c.211G>A (p.Glu71Lys) rs375331819 0.00001
NM_152393.4(KLHL40):c.248C>G (p.Ala83Gly) rs1246685748 0.00001
NM_152393.4(KLHL40):c.251A>G (p.Gln84Arg) rs780835485 0.00001
NM_152393.4(KLHL40):c.296C>T (p.Ala99Val) rs915743218 0.00001
NM_152393.4(KLHL40):c.300C>A (p.Ser100Arg) rs765609919 0.00001
NM_152393.4(KLHL40):c.341C>T (p.Pro114Leu) rs1333354759 0.00001
NM_152393.4(KLHL40):c.344C>T (p.Ser115Phe) rs371748730 0.00001
NM_152393.4(KLHL40):c.385T>G (p.Cys129Gly) rs765939784 0.00001
NM_152393.4(KLHL40):c.386G>C (p.Cys129Ser) rs751036389 0.00001
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser) rs767039942 0.00001
NM_152393.4(KLHL40):c.416T>C (p.Leu139Pro) rs1328688864 0.00001
NM_152393.4(KLHL40):c.427C>T (p.Leu143Phe) rs780332509 0.00001
NM_152393.4(KLHL40):c.430G>C (p.Asp144His) rs374038735 0.00001
NM_152393.4(KLHL40):c.472G>T (p.Ala158Ser) rs562925616 0.00001
NM_152393.4(KLHL40):c.523G>A (p.Asp175Asn) rs771551921 0.00001
NM_152393.4(KLHL40):c.553G>C (p.Gly185Arg) rs921432594 0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His) rs777496833 0.00001
NM_152393.4(KLHL40):c.610A>G (p.Ser204Gly) rs560260717 0.00001
NM_152393.4(KLHL40):c.611G>A (p.Ser204Asn) rs879858391 0.00001
NM_152393.4(KLHL40):c.619G>A (p.Ala207Thr) rs1479459996 0.00001
NM_152393.4(KLHL40):c.710G>A (p.Arg237His) rs1697272315 0.00001
NM_152393.4(KLHL40):c.712G>A (p.Val238Met) rs1478443086 0.00001
NM_152393.4(KLHL40):c.724C>G (p.Pro242Ala) rs1312120521 0.00001
NM_152393.4(KLHL40):c.752T>A (p.Leu251Gln) rs928500134 0.00001
NM_152393.4(KLHL40):c.759G>C (p.Lys253Asn) rs370186438 0.00001
NM_152393.4(KLHL40):c.86A>G (p.His29Arg) rs375788187 0.00001
NM_152393.4(KLHL40):c.885T>G (p.Asp295Glu) rs1229392663 0.00001
NM_152393.4(KLHL40):c.921T>G (p.Asn307Lys) rs746903692 0.00001
NM_174889.5(NDUFAF2):c.100T>C (p.Tyr34His) rs773988847 0.00001
NM_174889.5(NDUFAF2):c.18T>G (p.Asp6Glu) rs886060726 0.00001
NM_175614.5(NDUFA11):c.345C>T (p.Cys115=) rs536499962 0.00001
NM_175614.5(NDUFA11):c.64G>T (p.Ala22Ser) rs1192917919 0.00001
NM_198271.5(LMOD3):c.1031G>A (p.Arg344Gln) rs558303713 0.00001
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg) rs1217215656 0.00001
NM_198271.5(LMOD3):c.1152G>A (p.Met384Ile) rs1424776785 0.00001
NM_198271.5(LMOD3):c.1213C>G (p.Gln405Glu) rs920889036 0.00001
NM_198271.5(LMOD3):c.1235A>G (p.Glu412Gly) rs962387541 0.00001
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys) rs1239339268 0.00001
NM_198271.5(LMOD3):c.1298T>A (p.Leu433Gln) rs371262604 0.00001
NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu) rs750436069 0.00001
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu) rs1323958359 0.00001
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) rs768340380 0.00001
NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu) rs751389222 0.00001
NM_198271.5(LMOD3):c.142C>G (p.Leu48Val) rs777262094 0.00001
NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn) rs750502860 0.00001
NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala) rs745318870 0.00001
NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met) rs375665119 0.00001
NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del) rs752216316 0.00001
NM_198271.5(LMOD3):c.1484G>A (p.Arg495His) rs780071005 0.00001
NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly) rs764972614 0.00001
NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn) rs747837263 0.00001
NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala) rs764451589 0.00001
NM_198271.5(LMOD3):c.155T>C (p.Met52Thr) rs1252489316 0.00001
NM_198271.5(LMOD3):c.1628G>A (p.Arg543His) rs199655993 0.00001
NM_198271.5(LMOD3):c.1656+1G>C rs1306800094 0.00001
NM_198271.5(LMOD3):c.1657G>A (p.Val553Met) rs762946989 0.00001
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) rs1469953832 0.00001
NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln) rs749851437 0.00001
NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln) rs771330798 0.00001
NM_198271.5(LMOD3):c.296A>G (p.Glu99Gly) rs1258289949 0.00001
NM_198271.5(LMOD3):c.366G>T (p.Lys122Asn) rs759804680 0.00001
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg) rs779719094 0.00001
NM_198271.5(LMOD3):c.400T>G (p.Ser134Ala) rs1283065889 0.00001
NM_198271.5(LMOD3):c.463G>A (p.Asp155Asn) rs767649855 0.00001
NM_198271.5(LMOD3):c.464A>G (p.Asp155Gly) rs2092399198 0.00001
NM_198271.5(LMOD3):c.472G>A (p.Glu158Lys) rs988718606 0.00001
NM_198271.5(LMOD3):c.484G>A (p.Asp162Asn) rs551988491 0.00001
NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp) rs1488501537 0.00001
NM_198271.5(LMOD3):c.510C>G (p.Asn170Lys) rs1280888308 0.00001
NM_198271.5(LMOD3):c.52A>G (p.Ile18Val) rs1165265351 0.00001
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile) rs1408867451 0.00001
NM_198271.5(LMOD3):c.656A>G (p.Lys219Arg) rs190038977 0.00001
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp) rs541421744 0.00001
NM_198271.5(LMOD3):c.817G>T (p.Asp273Tyr) rs757466929 0.00001
NM_198271.5(LMOD3):c.823G>A (p.Val275Ile) rs777811622 0.00001
NM_198271.5(LMOD3):c.832A>G (p.Met278Val) rs755520605 0.00001
NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser) rs768467240 0.00001
NM_198271.5(LMOD3):c.895G>A (p.Ala299Thr) rs758653889 0.00001
NM_198859.4(PRICKLE2):c.1004G>A (p.Arg335Gln) rs754654816 0.00001
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp) rs776851070 0.00001
NM_198859.4(PRICKLE2):c.1102G>A (p.Asp368Asn) rs544405738 0.00001
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val) rs751445312 0.00001
NM_198859.4(PRICKLE2):c.1134G>A (p.Met378Ile) rs368695262 0.00001
NM_198859.4(PRICKLE2):c.1139G>T (p.Ser380Ile) rs1345969937 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln) rs550384726 0.00001
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys) rs780771241 0.00001
NM_198859.4(PRICKLE2):c.1367C>T (p.Ala456Val) rs1441238911 0.00001
NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile) rs201170479 0.00001
NM_198859.4(PRICKLE2):c.144+3A>G rs746978790 0.00001
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys) rs777124617 0.00001
NM_198859.4(PRICKLE2):c.1568C>A (p.Pro523His) rs2077464822 0.00001
NM_198859.4(PRICKLE2):c.1576T>C (p.Ser526Pro) rs1054433686 0.00001
NM_198859.4(PRICKLE2):c.1658C>T (p.Thr553Ile) rs372225003 0.00001
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr) rs1205407393 0.00001
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys) rs1277522148 0.00001
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg) rs372175446 0.00001
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr) rs757993759 0.00001
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His) rs1227637171 0.00001
NM_198859.4(PRICKLE2):c.194A>G (p.Asn65Ser) rs1338458844 0.00001
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly) rs748599215 0.00001
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu) rs2076619479 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys) rs766598630 0.00001
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg) rs1180228524 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met) rs137975846 0.00001
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) rs762399074 0.00001
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804 0.00001
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser) rs1247504361 0.00001
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206 0.00001
NM_198859.4(PRICKLE2):c.63G>C (p.Gln21His) rs752000702 0.00001
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg) rs765912174 0.00001
NM_199069.2(NDUFAF3):c.258G>A (p.Val86=) rs759189660 0.00001
NM_199069.2(NDUFAF3):c.312C>A (p.Leu104=) rs770941671 0.00001
NM_199069.2(NDUFAF3):c.551A>G (p.Gln184Arg) rs886058668 0.00001
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser) rs1197412497 0.00001
NM_213720.3(CHCHD10):c.106C>T (p.Pro36Ser) rs1259379217 0.00001
NM_213720.3(CHCHD10):c.10G>C (p.Gly4Arg) rs945463572 0.00001
NM_213720.3(CHCHD10):c.16C>G (p.Arg6Gly) rs751472303 0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr) rs542541060 0.00001
NM_213720.3(CHCHD10):c.354C>A (p.Asp118Glu) rs780959799 0.00001
NM_213720.3(CHCHD10):c.365G>T (p.Cys122Phe) rs1358742335 0.00001
NM_213720.3(CHCHD10):c.408T>C (p.His136=) rs113677828 0.00001
NM_213720.3(CHCHD10):c.410G>T (p.Gly137Val) rs1197865297 0.00001
NM_213720.3(CHCHD10):c.46C>T (p.Pro16Ser) rs927168789 0.00001
NM_213720.3(CHCHD10):c.53C>T (p.Ala18Val) rs1244878740 0.00001
NM_213720.3(CHCHD10):c.79C>T (p.Pro27Ser) rs1297070374 0.00001
GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0
GRCh38/hg38 2q31.2(chr2:178655529-178662529)x1
NC_000001.10:g.(?_115215735)_(115218644_?)del
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154141771)_(154148734_?)del
NC_000001.10:g.(?_179876938)_(179877828_?)del
NC_000001.10:g.(?_229567246)_(232172577_?)dup
NC_000001.10:g.(?_26128487)_(26128628_?)dup
NC_000001.11:g.(?_154191166)_(154192038_?)del
NC_000001.11:g.(?_229431489)_(229433125_?)dup
NC_000001.11:g.114695548C>A
NC_000001.11:g.114695560C>T
NC_000001.11:g.229432790C>G rs727503798
NC_000001.11:g.25812791A>G rs1557433091
NC_000002.11:g.(?_127804599)_(127865903_?)del
NC_000002.11:g.(?_127806092)_(127834292_?)dup
NC_000002.11:g.(?_127806102)_(127864519_?)dup
NC_000002.11:g.(?_127806102)_(128432598_?)del
NC_000002.11:g.(?_127815029)_(127864539_?)dup
NC_000002.11:g.(?_127821127)_(127834302_?)dup
NC_000002.11:g.(?_127825719)_(127828412_?)dup
NC_000002.11:g.(?_127834182)_(127864519_?)dup
NC_000002.11:g.(?_127864416)_(127864519_?)dup
NC_000002.11:g.(?_152342274)_(152432888_?)dup
NC_000002.11:g.(?_152369227)_(152376302_?)del
NC_000002.11:g.(?_152466303)_(152477560_?)dup
NC_000002.11:g.(?_152466303)_(152499887_?)dup
NC_000002.11:g.(?_152484352)_152490482del
NC_000002.11:g.(?_170366289)_(170382206_?)dup
NC_000002.11:g.(?_170382075)_(170382206_?)del
NC_000002.11:g.(?_179296804)_(179454920_?)dup
NC_000002.11:g.(?_179296824)_(179623919_?)dup
NC_000002.11:g.(?_179296824)_(179914668_?)dup
NC_000002.11:g.(?_179389716)_(179673150_?)dup
NC_000002.11:g.(?_179392981)_(179393966_?)del
NC_000002.11:g.(?_179432520)_(179439230_?)del
NC_000002.11:g.(?_179434909)_(179455669_?)dup
NC_000002.11:g.(?_179460214)_(179487514_?)dup
NC_000002.11:g.(?_179480014)_(179501546_?)dup
NC_000002.11:g.(?_179480024)_(179501536_?)dup
NC_000002.11:g.(?_179485809)_(179486755_?)dup
NC_000002.11:g.(?_179485819)_(179486745_?)dup
NC_000002.11:g.(?_179485829)_(179486735_?)dup
NC_000002.11:g.(?_179489182)_(179501536_?)del
NC_000002.11:g.(?_179504005)_(179560850_?)del
NC_000002.11:g.(?_179505958)_(179515008_?)dup
NC_000002.11:g.(?_179505968)_(179514998_?)dup
NC_000002.11:g.(?_179511192)_(179518254_?)del
NC_000002.11:g.(?_179513965)_(179514068_?)del
NC_000002.11:g.(?_179515458)_(179528845_?)del
NC_000002.11:g.(?_179516160)_(179518254_?)dup
NC_000002.11:g.(?_179516591)_(179548829_?)del
NC_000002.11:g.(?_179516803)_(179518254_?)del
NC_000002.11:g.(?_179517005)_(179517288_?)del
NC_000002.11:g.(?_179517165)_(179517483_?)dup
NC_000002.11:g.(?_179517165)_(179518254_?)dup
NC_000002.11:g.(?_179517945)_(179528263_?)del
NC_000002.11:g.(?_179528140)_(179559653_?)del
NC_000002.11:g.(?_179533394)_(179534341_?)del
NC_000002.11:g.(?_179534935)_(179669369_?)del
NC_000002.11:g.(?_179542328)_(179542955_?)del
NC_000002.11:g.(?_179542832)_(179617927_?)del
NC_000002.11:g.(?_179544193)_(179549076_?)del
NC_000002.11:g.(?_179549037)_(179550345_?)del
NC_000002.11:g.(?_179549960)_(179550345_?)del
NC_000002.11:g.(?_179550235)_(179550335_?)del
NC_000002.11:g.(?_179552818)_(179563661_?)dup
NC_000002.11:g.(?_179552838)_(179669369_?)del
NC_000002.11:g.(?_179555009)_(179560143_?)del
NC_000002.11:g.(?_179557204)_(179600821_?)dup
NC_000002.11:g.(?_179557214)_(179600811_?)dup
NC_000002.11:g.(?_179563550)_(179565950_?)del
NC_000002.11:g.(?_179565827)_(179567410_?)del
NC_000002.11:g.(?_179581802)_(179589285_?)dup
NC_000002.11:g.(?_179583571)_(179667566_?)del
NC_000002.11:g.(?_179599275)_(179603834_?)del
NC_000002.11:g.(?_179605162)_(179607529_?)del
NC_000002.11:g.(?_179623691)_(179639949_?)dup
NC_000002.11:g.(?_179648902)_(179655378_?)del
NC_000002.11:g.(?_179656837)_(179658806_?)del
NC_000002.11:g.(?_179659854)_(179661632_?)del
NC_000002.11:g.(?_179664194)_(179669369_?)del
NC_000002.11:g.(?_179669259)_(179669369_?)del
NC_000002.11:g.(?_220283185)_(220314013_?)dup
NC_000002.11:g.(?_220283513)_(220299541_?)del
NC_000002.11:g.(?_220286089)_(220292091_?)del
NC_000002.11:g.(?_220288441)_(220288541_?)dup
NC_000002.11:g.(?_237481970)_(238305480_?)dup
NC_000002.11:g.(?_238233407)_(238305470_?)dup
NC_000002.11:g.(?_238233417)_(238305460_?)dup
NC_000002.11:g.(?_238233417)_(238428692_?)dup
NC_000002.11:g.(?_238242073)_(238243552_?)del
NC_000002.11:g.(?_238272973)_(238281000_?)del
NC_000002.11:g.(?_238274642)_(238275889_?)del
NC_000002.11:g.(?_238289548)_(238296837_?)del
NC_000002.11:g.(?_26414119)_(26418121_?)dup
NC_000002.11:g.(?_26512766)_(26512821_?)del
NC_000002.11:g.179534118_179534119insAlu
NC_000002.12:g.(?_127106850)_(127106953_?)dup
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NC_000002.12:g.(?_151496931)_(151497043_?)del
NC_000002.12:g.(?_169509769)_(169525706_?)dup
NC_000002.12:g.(?_178535972)_(178536585_?)del
NC_000002.12:g.(?_178595497)_(178622777_?)dup
NC_000002.12:g.(?_178624445)_(178636819_?)del
NC_000002.12:g.(?_178652244)_(178653527_?)del
NC_000002.12:g.(?_178663423)_(178804652_?)del
NC_000002.12:g.(?_178671080)_(178672713_?)del
NC_000002.12:g.(?_178693912)_(178698924_?)del
NC_000002.12:g.(?_178709546)_(178711369_?)del
NC_000002.12:g.(?_178783700)_(178786161_?)del
NC_000002.12:g.(?_178804532)_(178804662_?)del
NC_000002.12:g.(?_219420241)_(219426000_?)dup
NC_000002.12:g.(?_219420485)_(219426000_?)dup
NC_000002.12:g.(?_236573327)_(237388194_?)dup
NC_000002.12:g.(?_237333450)_(237334889_?)del
NC_000002.12:g.151535786TATACT[1] rs1553683577
NC_000002.12:g.178565578_178565579delinsAA rs397517716
NC_000002.12:g.178725363C>T rs1064796629
NC_000003.11:g.(?_42727101)_(42733495_?)dup
NC_000003.11:g.(?_42727111)_(42729814_?)dup
NC_000003.11:g.(?_42727111)_(42733485_?)dup
NC_000003.11:g.(?_42733354)_(42733485_?)dup
NC_000003.11:g.(?_69158246)_(69171537_?)dup
NC_000005.10:g.137881974_137881979del
NC_000005.9:g.(?_126769035)_(126778838_?)dup
NC_000005.9:g.(?_126783229)_(126784934_?)del
NC_000005.9:g.(?_137216485)_(137221922_?)del
NC_000005.9:g.(?_137221717)_(137223074_?)del
NC_000006.11:g.(?_75796253)_(75855181_?)del
NC_000006.11:g.(?_75796263)_(75813546_?)dup
NC_000006.11:g.(?_75806949)_(75807042_?)del
NC_000006.11:g.(?_75827078)_(75912508_?)dup
NC_000006.11:g.(?_75827078)_(76640888_?)dup
NC_000006.11:g.(?_75833644)_(75847315_?)del
NC_000006.11:g.(?_75858054)_(75912508_?)dup
NC_000006.11:g.(?_75875203)_(75875515_?)dup
NC_000006.11:g.(?_75901397)_(75912508_?)dup
NC_000006.12:g.(?_75086537)_(75202802_?)dup
NC_000007.13:g.(?_128470672)_(128498597_?)dup
NC_000007.13:g.(?_128470692)_(128482448_?)dup
NC_000007.13:g.(?_128470692)_(128694824_?)dup
NC_000007.13:g.(?_128498042)_(128498291_?)dup
NC_000007.13:g.(?_128498042)_(128498577_?)dup
NC_000007.13:g.(?_128498042)_(128498597_?)dup
NC_000007.13:g.(?_128498052)_(128498587_?)dup
NC_000007.14:g.(?_128830628)_(128858533_?)dup
NC_000007.14:g.(?_128835316)_(128858533_?)dup
NC_000007.14:g.(?_128842221)_(128850084_?)del
NC_000007.14:g.(?_128852581)_(128858533_?)del
NC_000007.14:g.(?_128858326)_(128858533_?)del
NC_000010.10:g.(?_121410882)_(121429689_?)dup
NC_000010.10:g.(?_121411168)_(121429709_?)dup
NC_000010.10:g.(?_121411168)_(121436814_?)dup
NC_000010.10:g.(?_121411178)_(121436804_?)dup
NC_000010.10:g.(?_121411188)_(121432188_?)dup
NC_000010.10:g.(?_121411188)_(121436794_?)dup
NC_000010.10:g.(?_121429343)_(121432188_?)del
NC_000010.10:g.(?_121429343)_(121432188_?)dup
NC_000010.10:g.(?_121429353)_(121429699_?)dup
NC_000010.10:g.(?_121429353)_(121437012_?)dup
NC_000010.10:g.(?_121431747)_(121436794_?)dup
NC_000010.10:g.(?_121435956)_(121436794_?)dup
NC_000010.10:g.(?_88428443)_(88428547_?)dup
NC_000010.10:g.(?_88428449)_(88428561_?)dup
NC_000010.10:g.(?_88428449)_(88492733_?)del
NC_000010.10:g.(?_88428449)_(88659903_?)dup
NC_000010.10:g.(?_88445415)_(88451842_?)del
NC_000010.10:g.(?_88469642)_(88469827_?)del
NC_000010.10:g.(?_88469652)_(88492743_?)dup
NC_000010.11:g.(?_119669831)_(119670197_?)del
NC_000010.11:g.(?_86668564)_(86700053_?)del
NC_000010.11:g.(?_86668672)_(86710070_?)del
NC_000011.10:g.(?_3856251)_(3856429_?)dup
NC_000011.10:g.(?_3856251)_(4091818_?)dup
NC_000011.10:g.(?_3967532)_(4091818_?)dup
NC_000011.9:g.(?_3832490)_(4113028_?)dup
NC_000011.9:g.(?_3845093)_(4045237_?)dup
NC_000011.9:g.(?_3877491)_(3877649_?)dup
NC_000011.9:g.(?_3877501)_(4113028_?)dup
NC_000011.9:g.(?_4104092)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113028_?)dup
NC_000011.9:g.(?_4112492)_(4113048_?)dup
NC_000012.11:g.(?_122064648)_(122079549_?)dup
NC_000012.11:g.(?_122078927)_(122079549_?)dup
NC_000012.11:g.(?_41302215)_(41365335_?)dup
NC_000012.11:g.(?_41408010)_(41423041_?)del
NC_000012.11:g.(?_57640567)_(57642001_?)del
NC_000012.11:g.(?_80128594)_(81102759_?)del
NC_000012.12:g.(?_40691442)_(41073412_?)dup
NC_000012.12:g.(?_57243443)_(57249646_?)dup
NC_000012.12:g.121626743A>C
NC_000012.12:g.121626747A>G rs2136841279
NC_000012.12:g.121626748T>G rs1594204338
NC_000012.12:g.121626749C>T rs1594204339
NC_000012.12:g.121626750C>A
NC_000012.12:g.121626758G>C
NC_000012.12:g.121626758G>T
NC_000012.12:g.121626759C>T rs2136841307
NC_000012.12:g.121626759_121626760delinsTT rs2136841311
NC_000012.12:g.121626764C>G
NC_000012.12:g.121626764C>T rs1356450700
NC_000012.12:g.121626773C>T rs1892784662
NC_000012.12:g.121626774G>T
NC_000012.12:g.121626776A>C rs1349225419
NC_000012.12:g.121626779A>C
NC_000012.12:g.121626782C>G rs1892784896
NC_000012.12:g.121626785G>A rs1321846731
NC_000012.12:g.121626786A>T
NC_000012.12:g.121626789T>G
NC_000012.12:g.121626794C>G
NC_000012.12:g.121626800G>T
NC_000012.12:g.121626803G>T
NC_000012.12:g.121626818G>A
NC_000012.12:g.121626827C>T rs1413893402
NC_000012.12:g.121626830A>G rs2136841468
NC_000012.12:g.121626831G>A rs1389191128
NC_000012.12:g.121626836C>A
NC_000012.12:g.121626839C>G rs1892787893
NC_000012.12:g.121626840G>A rs1465865018
NC_000012.12:g.121626843G>T
NC_000012.12:g.121626851G>A rs2136841564
NC_000012.12:g.121626857C>A
NC_000012.12:g.121626857C>G rs782531427
NC_000012.12:g.121626871G>T rs782427834
NC_000012.12:g.121626872C>G
NC_000012.12:g.121626872C>T rs1212609439
NC_000012.12:g.121626879_121626882delinsGCCGT rs1892790744
NC_000012.12:g.121626879_121626884delACCGCC
NC_000012.12:g.121626883C>T
NC_000012.12:g.121626887C>A
NC_000012.12:g.121626887C>G rs781855511
NC_000012.12:g.121626890C>T rs2136841806
NC_000012.12:g.121626893C>G
NC_000012.12:g.121626893C>T
NC_000012.12:g.121626904C>T
NC_000012.12:g.121626908A>G
NC_000012.12:g.121626911G>A
NC_000012.12:g.121626915C>G rs1892792431
NC_000012.12:g.121626916G>A rs1412190366
NC_000012.12:g.121626917G>A rs370688474
NC_000012.12:g.121626919C>T
NC_000012.12:g.121626921G>C
NC_000012.12:g.121626941G>A rs782424304
NC_000012.12:g.121626941G>T rs782424304
NC_000012.12:g.121626947A>G
NC_000012.12:g.121626947_121626957delinsTG
NC_000012.12:g.121626971C>G
NC_000012.12:g.121627002G>C
NC_000012.12:g.121627013C>G rs1892795100
NC_000012.12:g.121627034T>C
NC_000012.12:g.121641044G>A
NC_000012.12:g.121641068G>A rs529121117
NC_000012.12:g.121641087C>G rs782088694
NC_000012.12:g.121641087C>T
NC_000012.12:g.121641110G>T
NC_000012.12:g.121641114G>A rs2136852559
NC_000012.12:g.121641131G>A rs2136852590
NC_000012.12:g.121641149C>T rs786204797
NC_000012.12:g.121641159G>T
NC_000012.12:g.121641167A>C
NC_000012.12:g.121641182G>A
NC_000012.12:g.121641197G>A
NC_000012.12:g.121641204A>G rs1893052177
NC_000012.12:g.121641215G>T
NC_000012.12:g.121641235G>T rs781910070
NC_000012.12:g.121641237G>A
NC_000012.12:g.121641237G>T
NC_000012.12:g.121641240T>C
NC_000012.12:g.121641241G>A rs1416832738
NC_000012.12:g.121641246G>A
NC_000012.12:g.121641261C>T
NC_000012.12:g.121641278G>A
NC_000012.12:g.121641281A>G
NC_000012.12:g.121641284G>A rs2136852917
NC_000012.12:g.121641288C>T
NC_000012.12:g.121641315T>C
NC_000012.12:g.121641329A>G
NC_000012.12:g.121641348A>T
NC_000012.12:g.121641353C>G
NC_000012.12:g.121641353C>T
NC_000012.12:g.121641362C>T
NC_000012.12:g.121641371A>G rs2136853101
NC_000012.12:g.121641371A>T rs2136853101
NC_000012.12:g.121641395G>A
NC_000012.12:g.121641407G>A rs782722476
NC_000012.12:g.121641407G>T
NC_000012.12:g.121641417G>A
NC_000012.12:g.121641477G>A rs2136853394
NC_000012.12:g.121641480T>A
NC_000012.12:g.121641485T>G
NC_000012.12:g.121641503C>G
NC_000012.12:g.121641510A>G
NC_000012.12:g.121641521G>A
NC_000012.12:g.121641533A>G
NC_000012.12:g.121641533A>T rs1555324156
NC_000012.12:g.121641540G>A
NC_000012.12:g.121641559C>A rs782201078
NC_000012.12:g.121641560G>C rs368440417
NC_000012.12:g.121641579G>A
NC_000012.12:g.121641582T>A rs1566472954
NC_000012.12:g.121641584C>T
NC_000012.12:g.121641585A>G
NC_000012.12:g.121641596G>C rs1555324170
NC_000012.12:g.121641615_121641616delinsAG
NC_000012.12:g.121641633A>G
NC_000014.8:g.(?_35182051)_(35183766_?)dup
NC_000014.9:g.(?_34710372)_(34713686_?)dup
NC_000015.9:g.(?_65255951)_(65370540_?)del
NC_000015.9:g.(?_65369154)_(65370530_?)dup
NC_000016.10:g.(?_722760)_(726377_?)dup
NC_000016.9:g.(?_772770)_(776367_?)dup
NC_000017.10:g.(?_10424587)_(10428392_?)del
NC_000017.10:g.(?_10424597)_(10431211_?)del
NC_000017.10:g.(?_10424597)_(10433077_?)del
NC_000017.10:g.(?_10424597)_(10433411_?)del
NC_000017.10:g.(?_10424597)_(10441172_?)dup
NC_000017.10:g.(?_10424597)_(10446498_?)del
NC_000017.10:g.(?_10431997)_(10433401_?)dup
NC_000017.10:g.(?_10432459)_(10433077_?)dup
NC_000017.10:g.(?_10432459)_(10433411_?)dup
NC_000017.10:g.(?_10432861)_(10433411_?)del
NC_000017.10:g.(?_10436582)_(10600824_?)dup
NC_000017.11:g.(?_10509485)_(10537835_?)del
NC_000017.11:g.(?_10521270)_(10537845_?)del
NC_000017.11:g.(?_10529152)_(10530084_?)dup
NC_000019.9:g.(?_55644273)_(55768277_?)dup
NC_000019.9:g.(?_55644283)_(55668957_?)dup
NC_000021.8:g.(?_47400663)_(47425963_?)dup
NC_000021.8:g.(?_47401745)_(47532511_?)dup
NC_000021.8:g.(?_47401755)_(47546465_?)dup
NC_000021.8:g.(?_47407504)_(47421320_?)dup
NC_000021.8:g.(?_47410282)_(47410965_?)dup
NC_000021.8:g.(?_47410677)_(47410965_?)dup
NC_000021.8:g.(?_47417315)_(47423927_?)dup
NC_000021.8:g.(?_47422421)_(47423927_?)del
NC_000021.8:g.(?_47423046)_(47429562_?)del
NC_000021.8:g.(?_47517033)_(47553763_?)dup
NC_000021.8:g.(?_47518024)_47552476dup
NC_000021.8:g.(?_47531391)_(47537387_?)dup
NC_000021.8:g.(?_47536545)_(47536748_?)dup
NC_000021.8:g.(?_47551848)_(47575437_?)dup
NC_000021.8:g.(?_47551858)_(47552476_?)dup
NC_000021.9:g.(?_45981831)_(46004033_?)dup
NC_000021.9:g.(?_46111467)_(46112834_?)dup
NC_000021.9:g.(?_46113998)_(46116063_?)dup
NC_000022.10:g.(?_24108011)_(24110169_?)dup
NC_000022.10:g.(?_24108174)_(24110081_?)dup
NC_000022.10:g.(?_24108194)_(24108482_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)del
NC_000022.10:g.(?_24108194)_(24110061_?)dup
NC_000022.10:g.(?_24109541)_(24110061_?)del
NC_000022.10:g.(?_24109541)_(24110081_?)del
NC_000022.11:g.(?_23765824)_(23767603_?)del
NC_000022.11:g.(?_23767364)_(23767982_?)del
NC_000023.10:g.(?_149613783)_(149840068_?)dup
NC_000023.10:g.(?_149761067)_(150573540_?)dup
NC_000023.10:g.(?_149761077)_(149787632_?)dup
NC_000023.10:g.(?_149783052)_(149840078_?)dup
NC_000023.10:g.(?_149807406)_(149814354_?)dup
NC_000023.10:g.(?_149839891)_(149840078_?)del
NC_000023.10:g.(?_153592370)_(153775961_?)dup
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153642547_?)dup
NC_000023.10:g.(?_153640181)_(153775961_?)dup
NC_000023.10:g.(?_153641545)_(153648084_?)dup
NC_000023.10:g.(?_153647862)_(153649343_?)dup
NC_000023.11:g.150657936T>A rs727504019
NC_012920.1(MT-CO3):m.9247G>C
NC_012920.1(MT-CYB):m.15096T>C rs1057516073
NC_012920.1(MT-CYB):m.15437G>A rs878853058
NC_012920.1(MT-CYB):m.579T>C rs1603218447
NC_012920.1(MT-CYB):m.588T>C rs1603218449
NC_012920.1(MT-CYB):m.624C>T rs1603218465
NC_012920.1(MT-CYB):m.628C>T rs1603218467
NC_012920.1(MT-CYB):m.643A>G rs1603218472
NC_012920.1(MT-ND1):m.1608G>A rs1603218582
NC_012920.1(MT-ND1):m.1616A>G rs2124591018
NC_012920.1(MT-ND1):m.1619_1620insT rs1603218585
NC_012920.1(MT-ND1):m.1629A>G rs1603218587
NC_012920.1(MT-ND1):m.1630A>G rs1603218588
NC_012920.1(MT-ND1):m.1631C>T rs1603218590
NC_012920.1(MT-ND1):m.1636A>G rs1603218591
NC_012920.1(MT-ND1):m.1638T>C rs1603218592
NC_012920.1(MT-ND1):m.1641G>A rs28416113
NC_012920.1(MT-ND1):m.1643A>G rs1603218595
NC_012920.1(MT-ND1):m.1654T>C rs1603218602
NC_012920.1(MT-ND1):m.1658T>C rs1603218607
NC_012920.1(MT-ND5):m.12858C>A rs879012050
NC_012920.1(MT-ND5):m.13289G>A
NC_012920.1(MT-ND5):m.13912C>T
NC_012920.1(MT-ND5):m.14021T>C
NC_012920.1(MT-TA):m.5590G>A rs28619345
NC_012920.1(MT-TA):m.5607T>C rs1603220054
NC_012920.1(MT-TA):m.5609T>C rs1603220058
NC_012920.1(MT-TA):m.5619G>A rs1603220062
NC_012920.1(MT-TA):m.5645G>A rs1603220068
NC_012920.1(MT-TA):m.5654T>C rs1603220072
NC_012920.1(MT-TC):m.5791G>A rs1603220121
NC_012920.1(MT-TC):m.5793A>G rs1603220122
NC_012920.1(MT-TC):m.5802T>C rs1603220128
NC_012920.1(MT-TC):m.5804A>G rs1603220130
NC_012920.1(MT-TC):m.5809G>A rs1603220134
NC_012920.1(MT-TC):m.5819T>C rs1603220139
NC_012920.1(MT-TD):m.7518A>G rs1603220992
NC_012920.1(MT-TD):m.7520G>A rs1603220993
NC_012920.1(MT-TD):m.7525T>C rs1603220995
NC_012920.1(MT-TD):m.7538T>C rs1603221004
NC_012920.1(MT-TD):m.7555T>C rs1603221010
NC_012920.1(MT-TD):m.7562A>G rs1603221015
NC_012920.1(MT-TD):m.7568dup rs1603221020
NC_012920.1(MT-TD):m.7577T>C rs1603221025
NC_012920.1(MT-TD):m.7582C>T rs1603221026
NC_012920.1(MT-TE):m.14681G>A rs1603224827
NC_012920.1(MT-TE):m.14729T>C rs1603224848
NC_012920.1(MT-TG):m.10005A>T rs1603222621
NC_012920.1(MT-TG):m.10008A>G rs1603222626
NC_012920.1(MT-TG):m.10014G>A rs1603222629
NC_012920.1(MT-TG):m.10015T>C rs28374827
NC_012920.1(MT-TG):m.10020T>C rs1603222636
NC_012920.1(MT-TG):m.10027T>C rs1603222638
NC_012920.1(MT-TG):m.10043del rs1603222645
NC_012920.1(MT-TG):m.10048A>G rs878957961
NC_012920.1(MT-TG):m.10055A>G rs1603222653
NC_012920.1(MT-TG):m.9993T>C rs1603222613
NC_012920.1(MT-TG):m.9996T>C rs1556423755
NC_012920.1(MT-TH):m.12143T>C rs1603223568
NC_012920.1(MT-TH):m.12144A>G rs1603223569
NC_012920.1(MT-TH):m.12150T>C rs1603223574
NC_012920.1(MT-TH):m.12163A>G rs1603223581
NC_012920.1(MT-TH):m.12173T>A rs1556424075
NC_012920.1(MT-TH):m.12176G>A rs1603223594
NC_012920.1(MT-TH):m.12184A>G rs1603223603
NC_012920.1(MT-TH):m.12185G>A rs1603223607
NC_012920.1(MT-TH):m.12201T>C rs387906733
NC_012920.1(MT-TH):m.12202T>C rs1603223613
NC_012920.1(MT-TH):m.12204A>C rs1603223614
NC_012920.1(MT-TH):m.12205C>T rs1603223615
NC_012920.1(MT-TI):m.4264G>A rs1603219385
NC_012920.1(MT-TI):m.4290T>C rs121434469
NC_012920.1(MT-TI):m.4320C>A rs1603219406
NC_012920.1(MT-TI):m.4320C>T rs1603219406
NC_012920.1(MT-TI):m.4327T>C rs1603219411
NC_012920.1(MT-TK):m.8301A>G rs1603221396
NC_012920.1(MT-TK):m.8311T>A rs371589230
NC_012920.1(MT-TK):m.8319A>G rs1603221401
NC_012920.1(MT-TK):m.8340_8341insT rs1603221409
NC_012920.1(MT-TK):m.8358A>G rs1603221421
NC_012920.1(MT-TK):m.8364A>T rs1603221428
NC_012920.1(MT-TL1):m.3248G>A rs879110136
NC_012920.1(MT-TL1):m.3249G>A rs199474667
NC_012920.1(MT-TL1):m.3250T>C rs199474664
NC_012920.1(MT-TL1):m.3252A>T rs199474661
NC_012920.1(MT-TL1):m.3263C>T rs1603218860
NC_012920.1(MT-TL1):m.3269A>G rs1603218862
NC_012920.1(MT-TL1):m.3272T>C rs1603218865
NC_012920.1(MT-TL1):m.3274A>G rs199474666
NC_012920.1(MT-TL2):m.12278T>C rs1603223646
NC_012920.1(MT-TL2):m.12291T>C rs1603223653
NC_012920.1(MT-TL2):m.12293G>A rs1603223654
NC_012920.1(MT-TL2):m.12302C>A rs1603223658
NC_012920.1(MT-TL2):m.12302C>T rs1603223658
NC_012920.1(MT-TL2):m.12318G>A rs1603223664
NC_012920.1(MT-TM):m.4429G>A rs1603219456
NC_012920.1(MT-TM):m.4451T>G rs1603219461
NC_012920.1(MT-TM):m.4455A>G rs878986264
NC_012920.1(MT-TM):m.4456C>T rs1603219465
NC_012920.1(MT-TM):m.4466A>G rs1603219467
NC_012920.1(MT-TN):m.5661A>G rs1603220076
NC_012920.1(MT-TN):m.5669G>A rs1603220083
NC_012920.1(MT-TN):m.5672T>C rs1603220085
NC_012920.1(MT-TN):m.5693T>C rs1603220092
NC_012920.1(MT-TN):m.5708C>A rs1603220094
NC_012920.1(MT-TP):m.15976T>C rs1603225620
NC_012920.1(MT-TP):m.15983T>C rs1603225623
NC_012920.1(MT-TP):m.15984T>C rs1603225624
NC_012920.1(MT-TP):m.15994A>G rs1603225627
NC_012920.1(MT-TP):m.15995G>A rs1603225630
NC_012920.1(MT-TP):m.16003T>C rs1603225634
NC_012920.1(MT-TP):m.16013A>G rs1603225636
NC_012920.1(MT-TP):m.16018_16032dup rs1603225639
NC_012920.1(MT-TP):m.16021C>T rs1603225641
NC_012920.1(MT-TQ):m.4339G>A rs1603219415
NC_012920.1(MT-TQ):m.4360G>A rs1603219422
NC_012920.1(MT-TQ):m.4399T>C rs1603219445
NC_012920.1(MT-TQ):m.4400A>G rs1603219449
NC_012920.1(MT-TR):m.10405T>C rs1603222825
NC_012920.1(MT-TR):m.10457T>C rs1603222845
NC_012920.1(MT-TR):m.10462T>C rs1603222850
NC_012920.1(MT-TS1):m.7478G>A rs1603220977
NC_012920.1(MT-TS1):m.7479G>A rs1603220980
NC_012920.1(MT-TS1):m.7486G>A rs1556423295
NC_012920.1(MT-TS1):m.7487C>T rs1603220981
NC_012920.1(MT-TS1):m.7496T>C rs1057516061
NC_012920.1(MT-TS1):m.7499C>A rs1603220989
NC_012920.1(MT-TS2):m.12213G>A rs1603223616
NC_012920.1(MT-TS2):m.12218C>A rs1603223621
NC_012920.1(MT-TS2):m.12230A>G rs1603223625
NC_012920.1(MT-TS2):m.12241dup rs1603223633
NC_012920.1(MT-TS2):m.12247T>C rs1603223637
NC_012920.1(MT-TS2):m.12250C>T rs1603223639
NC_012920.1(MT-TS2):m.12255T>C rs1603223640
NC_012920.1(MT-TT):m.15888G>A rs1603225568
NC_012920.1(MT-TT):m.15890C>T rs527236196
NC_012920.1(MT-TT):m.15897G>A rs1603225575
NC_012920.1(MT-TT):m.15909A>T rs1556424690
NC_012920.1(MT-TT):m.15921T>C rs1603225593
NC_012920.1(MT-TT):m.15950G>A rs118203890
NC_012920.1(MT-TW):m.5524T>C rs1603220004
NC_012920.1(MT-TW):m.5542C>T rs1603220015
NC_012920.1(MT-TW):m.5544T>C rs1603220018
NC_012920.1(MT-TW):m.5550C>T rs1603220019
NC_012920.1(MT-TW):m.5559A>G rs1556423008
NC_012920.1(MT-TW):m.5560G>A rs1603220026
NC_012920.1(MT-TW):m.5573A>G rs1603220033
NC_012920.1(MT-TW):m.5575T>C rs1603220034
NC_012920.1(MT-TY):m.5837G>A rs1603220147
NC_012920.1(MT-TY):m.5840C>A rs1603220149
NC_012920.1(MT-TY):m.5841T>C rs1603220150
NC_012920.1(MT-TY):m.5852T>C rs1603220153
NC_012920.1(MT-TY):m.5858T>C rs1603220157
NC_012920.1(MT-TY):m.5864G>A rs1603220158
NC_012920.1(MT-TY):m.5865T>C rs1603220159
NC_012920.1(MT-TY):m.5885T>C rs1603220164
NC_012920.1(MT-TY):m.5889A>G rs1603220167
NC_012920.1:m.14563C>T rs1057516069
NC_012920.1:m.14854C>T rs1057516071
NM_000036.3(AMPD1):c.-15A>G
NM_000036.3(AMPD1):c.-33T>G
NM_000036.3(AMPD1):c.-42C>T
NM_000036.3(AMPD1):c.-45CTT[1]
NM_000036.3(AMPD1):c.-60dup rs770393080
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile)
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile) rs377513152
NM_000036.3(AMPD1):c.104G>A (p.Arg35His) rs147972392
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu) rs147972392
NM_000036.3(AMPD1):c.1067_1073del (p.Thr356fs)
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter) rs746801564
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro)
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile)
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly)
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu) rs769460760
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu)
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.1166A>G (p.Asp389Gly)
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val)
NM_000036.3(AMPD1):c.1220T>C (p.Ile407Thr)
NM_000036.3(AMPD1):c.1224+6G>A
NM_000036.3(AMPD1):c.1224+6G>T
NM_000036.3(AMPD1):c.1225-16T>A
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg) rs1207724365
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala) rs2101713600
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val) rs1658021879
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu)
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly)
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile)
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser)
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter) rs1447749222
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu)
NM_000036.3(AMPD1):c.1378C>T (p.Pro460Ser)
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser)
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) rs746166547
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) rs1371202947
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly)
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr)
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr)
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn)
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys) rs1570838359
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr)
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu)
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu) rs966578460
NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr)
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly)
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn)
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro) rs1156760290
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser)
NM_000036.3(AMPD1):c.157G>A (p.Glu53Lys)
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu)
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys)
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile) rs1657954756
NM_000036.3(AMPD1):c.1679+1G>T
NM_000036.3(AMPD1):c.1680-9T>C
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln)
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr)
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg) rs2101711121
NM_000036.3(AMPD1):c.1732G>A (p.Ala578Thr)
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile)
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu)
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr)
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala)
NM_000036.3(AMPD1):c.1801-5T>G
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly)
NM_000036.3(AMPD1):c.1811T>G (p.Leu604Arg)
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys) rs1354176888
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter) rs1354176888
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr)
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp) rs1017107552
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val)
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys)
NM_000036.3(AMPD1):c.1895A>T (p.Asn632Ile)
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs)
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr)
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys)
NM_000036.3(AMPD1):c.1974+1G>C rs145328844
NM_000036.3(AMPD1):c.1974+7T>C
NM_000036.3(AMPD1):c.1979C>A (p.Pro660His) rs267597931
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu) rs267597931
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr) rs1657899229
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly) rs2101710015
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr)
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys)
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2086-3T>C
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu)
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) rs759824860
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn)
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val)
NM_000036.3(AMPD1):c.2126G>A (p.Gly709Asp)
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu)
NM_000036.3(AMPD1):c.215+1G>A
NM_000036.3(AMPD1):c.215+6T>C
NM_000036.3(AMPD1):c.216-17T>G
NM_000036.3(AMPD1):c.216-2del
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro)
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu) rs146036570
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.2185T>G (p.Tyr729Asp)
NM_000036.3(AMPD1):c.21A>C (p.Pro7=)
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg)
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp) rs749940824
NM_000036.3(AMPD1):c.285A>C (p.Lys95Asn)
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg) rs2101730071
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln)
NM_000036.3(AMPD1):c.301G>T (p.Glu101Ter)
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr)
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile) rs547487220
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu) rs1284363894
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.34+3G>A
NM_000036.3(AMPD1):c.34+5G>A
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile)
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.35-3T>C
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs)
NM_000036.3(AMPD1):c.381G>A (p.Gly127=)
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu)
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu)
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp)
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser)
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) rs542684385
NM_000036.3(AMPD1):c.50T>C (p.Met17Thr)
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg)
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu)
NM_000036.3(AMPD1):c.548-3_548-2del
NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter) rs775029965
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala)
NM_000036.3(AMPD1):c.592G>C (p.Asp198His) rs267597934
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr)
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val) rs1570852851
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val)
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile) rs1165630426
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu)
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile)
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr)
NM_000036.3(AMPD1):c.740dup (p.Leu247fs)
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val)
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser)
NM_000036.3(AMPD1):c.759A>T (p.Gln253His)
NM_000036.3(AMPD1):c.767+3_767+6del rs749694988
NM_000036.3(AMPD1):c.768-2A>G
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln) rs750114853
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile) rs1161639285
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro)
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe) rs2101715947
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu) rs145030449
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln) rs2101715885
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter)
NM_000036.3(AMPD1):c.890G>A (p.Cys297Tyr)
NM_000036.3(AMPD1):c.89A>T (p.Lys30Ile)
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile)
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val)
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr)
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr)
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly) rs201837665
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val)
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly)
NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) rs1174671318
NM_000069.3(CACNA1S):c.1138G>A (p.Asp380Asn)
NM_000069.3(CACNA1S):c.1150+3T>C rs770379814
NM_000069.3(CACNA1S):c.1150+6G>T
NM_000069.3(CACNA1S):c.1160C>G (p.Ser387Cys)
NM_000069.3(CACNA1S):c.1188G>C (p.Glu396Asp)
NM_000069.3(CACNA1S):c.1190G>T (p.Ser397Ile)
NM_000069.3(CACNA1S):c.11C>T (p.Ser4Phe)
NM_000069.3(CACNA1S):c.1205C>A (p.Ala402Glu)
NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)
NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)
NM_000069.3(CACNA1S):c.1271A>G (p.Lys424Arg)
NM_000069.3(CACNA1S):c.1273T>G (p.Cys425Gly)
NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) rs749572656
NM_000069.3(CACNA1S):c.1354G>A (p.Glu452Lys)
NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) rs1235626524
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala) rs977298165
NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr) rs1411108885
NM_000069.3(CACNA1S):c.1483A>G (p.Ile495Val)
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) rs772738139
NM_000069.3(CACNA1S):c.1511T>G (p.Val504Gly)
NM_000069.3(CACNA1S):c.1514G>A (p.Cys505Tyr)
NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp) rs2102144073
NM_000069.3(CACNA1S):c.1598T>C (p.Leu533Pro)
NM_000069.3(CACNA1S):c.1619+4A>C
NM_000069.3(CACNA1S):c.1619+4A>G
NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) rs569061608
NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) rs1661653168
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)
NM_000069.3(CACNA1S):c.1754A>C (p.Tyr585Ser)
NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)
NM_000069.3(CACNA1S):c.1862A>G (p.Tyr621Cys)
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)
NM_000069.3(CACNA1S):c.1906C>T (p.Leu636Phe)
NM_000069.3(CACNA1S):c.191A>G (p.Asn64Ser)
NM_000069.3(CACNA1S):c.1961A>G (p.Asn654Ser)
NM_000069.3(CACNA1S):c.1981G>A (p.Val661Met) rs764736462
NM_000069.3(CACNA1S):c.2057T>C (p.Met686Thr) rs1661536110
NM_000069.3(CACNA1S):c.2063+16G>A
NM_000069.3(CACNA1S):c.2063A>G (p.Lys688Arg)
NM_000069.3(CACNA1S):c.2086GAG[1] (p.Glu697del) rs1225367412
NM_000069.3(CACNA1S):c.2144C>T (p.Pro715Leu)
NM_000069.3(CACNA1S):c.2188A>G (p.Asn730Asp)
NM_000069.3(CACNA1S):c.2257C>T (p.Pro753Ser)
NM_000069.3(CACNA1S):c.2311G>T (p.Val771Leu)
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)
NM_000069.3(CACNA1S):c.2343C>G (p.Ile781Met)
NM_000069.3(CACNA1S):c.2360A>T (p.Lys787Met)
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)
NM_000069.3(CACNA1S):c.2399G>T (p.Trp800Leu)
NM_000069.3(CACNA1S):c.240C>G (p.Asn80Lys)
NM_000069.3(CACNA1S):c.2424C>A (p.Phe808Leu)
NM_000069.3(CACNA1S):c.2443G>A (p.Ala815Thr)
NM_000069.3(CACNA1S):c.245T>C (p.Leu82Pro)
NM_000069.3(CACNA1S):c.250C>T (p.Leu84Phe)
NM_000069.3(CACNA1S):c.2558C>T (p.Thr853Ile)
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) rs553593355
NM_000069.3(CACNA1S):c.2745+3G>A
NM_000069.3(CACNA1S):c.2756A>G (p.Gln919Arg)
NM_000069.3(CACNA1S):c.2903G>T (p.Cys968Phe)
NM_000069.3(CACNA1S):c.2908G>A (p.Gly970Ser)
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)
NM_000069.3(CACNA1S):c.2970G>C (p.Trp990Cys)
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg) rs146497999
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)
NM_000069.3(CACNA1S):c.2991C>A (p.Phe997Leu)
NM_000069.3(CACNA1S):c.3011T>C (p.Met1004Thr)
NM_000069.3(CACNA1S):c.3040G>C (p.Glu1014Gln) rs776712220
NM_000069.3(CACNA1S):c.3056T>A (p.Leu1019Gln)
NM_000069.3(CACNA1S):c.3076_3090del (p.Ser1026_Asp1030del)
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr) rs562504992
NM_000069.3(CACNA1S):c.3140T>C (p.Ile1047Thr)
NM_000069.3(CACNA1S):c.3203T>G (p.Phe1068Cys)
NM_000069.3(CACNA1S):c.320C>T (p.Ala107Val)
NM_000069.3(CACNA1S):c.3244G>A (p.Asp1082Asn)
NM_000069.3(CACNA1S):c.3244G>T (p.Asp1082Tyr)
NM_000069.3(CACNA1S):c.3255+10C>T rs1572035084
NM_000069.3(CACNA1S):c.3256-17T>A
NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) rs80338782
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)
NM_000069.3(CACNA1S):c.3274G>A (p.Ala1092Thr)
NM_000069.3(CACNA1S):c.3284C>T (p.Ala1095Val)
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)
NM_000069.3(CACNA1S):c.3353C>A (p.Ser1118Tyr)
NM_000069.3(CACNA1S):c.3397A>G (p.Ile1133Val)
NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp) rs375919164
NM_000069.3(CACNA1S):c.3427T>C (p.Ser1143Pro)
NM_000069.3(CACNA1S):c.3461A>C (p.Asn1154Thr)
NM_000069.3(CACNA1S):c.346G>A (p.Ala116Thr)
NM_000069.3(CACNA1S):c.3511G>A (p.Ala1171Thr)
NM_000069.3(CACNA1S):c.3559T>G (p.Phe1187Val)
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3595C>T (p.Leu1199Phe)
NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)
NM_000069.3(CACNA1S):c.3632G>A (p.Gly1211Glu)
NM_000069.3(CACNA1S):c.3667-3C>T
NM_000069.3(CACNA1S):c.3667-5C>G
NM_000069.3(CACNA1S):c.3698C>A (p.Ala1233Asp)
NM_000069.3(CACNA1S):c.3707G>T (p.Arg1236Leu)
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) rs28930068
NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del) rs1283443722
NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met) rs1660730259
NM_000069.3(CACNA1S):c.3757G>C (p.Val1253Leu)
NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly) rs200034567
NM_000069.3(CACNA1S):c.3764C>T (p.Thr1255Ile)
NM_000069.3(CACNA1S):c.3786G>C (p.Lys1262Asn)
NM_000069.3(CACNA1S):c.3796G>T (p.Ala1266Ser)
NM_000069.3(CACNA1S):c.3802C>T (p.Pro1268Ser) rs921262693
NM_000069.3(CACNA1S):c.3806A>G (p.Tyr1269Cys)
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser) rs774300377
NM_000069.3(CACNA1S):c.3850A>G (p.Ile1284Val)
NM_000069.3(CACNA1S):c.3858G>C (p.Met1286Ile)
NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) rs1660695433
NM_000069.3(CACNA1S):c.3908A>G (p.Asn1303Ser)
NM_000069.3(CACNA1S):c.3953+5G>A rs752722907
NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn) rs1030338556
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)
NM_000069.3(CACNA1S):c.4099C>T (p.Leu1367Phe)
NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)
NM_000069.3(CACNA1S):c.4150T>A (p.Phe1384Ile)
NM_000069.3(CACNA1S):c.4168G>T (p.Asp1390Tyr)
NM_000069.3(CACNA1S):c.4171T>A (p.Trp1391Arg) rs200062688
NM_000069.3(CACNA1S):c.4172G>T (p.Trp1391Leu)
NM_000069.3(CACNA1S):c.4196T>G (p.Leu1399Arg)
NM_000069.3(CACNA1S):c.4199A>T (p.Asp1400Val)
NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=) rs769933784
NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)
NM_000069.3(CACNA1S):c.4359G>T (p.Met1453Ile)
NM_000069.3(CACNA1S):c.4388T>C (p.Phe1463Ser)
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)
NM_000069.3(CACNA1S):c.451C>G (p.Pro151Ala)
NM_000069.3(CACNA1S):c.4543+5G>A
NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu) rs995172326
NM_000069.3(CACNA1S):c.4573G>A (p.Ala1525Thr) rs760097708
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His) rs774256022
NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu) rs774256022
NM_000069.3(CACNA1S):c.4637A>G (p.Tyr1546Cys)
NM_000069.3(CACNA1S):c.4656T>G (p.Ile1552Met)
NM_000069.3(CACNA1S):c.4664T>C (p.Ile1555Thr)
NM_000069.3(CACNA1S):c.4678C>G (p.Arg1560Gly)
NM_000069.3(CACNA1S):c.4685T>C (p.Ile1562Thr)
NM_000069.3(CACNA1S):c.4798-7C>A
NM_000069.3(CACNA1S):c.4841G>A (p.Arg1614Lys)
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)
NM_000069.3(CACNA1S):c.4915G>A (p.Glu1639Lys) rs758332515
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)
NM_000069.3(CACNA1S):c.4933G>C (p.Glu1645Gln)
NM_000069.3(CACNA1S):c.4940T>C (p.Phe1647Ser) rs2102547613
NM_000069.3(CACNA1S):c.4941C>A (p.Phe1647Leu)
NM_000069.3(CACNA1S):c.4955G>C (p.Arg1652Pro)
NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr) rs1553248123
NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His) rs886045794
NM_000069.3(CACNA1S):c.5049-12C>G
NM_000069.3(CACNA1S):c.5054A>G (p.His1685Arg)
NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)
NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) rs1660204682
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln) rs201310235
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro) rs201310235
NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly) rs1660201407
NM_000069.3(CACNA1S):c.5182C>G (p.Gln1728Glu)
NM_000069.3(CACNA1S):c.5219C>T (p.Pro1740Leu)
NM_000069.3(CACNA1S):c.5251C>A (p.Pro1751Thr)
NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn) rs777977731
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) rs200434921
NM_000069.3(CACNA1S):c.5300C>T (p.Pro1767Leu)
NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg) rs1255660415
NM_000069.3(CACNA1S):c.535G>A (p.Val179Met)
NM_000069.3(CACNA1S):c.5370+1del
NM_000069.3(CACNA1S):c.541+3G>T
NM_000069.3(CACNA1S):c.5419A>T (p.Ile1807Phe)
NM_000069.3(CACNA1S):c.5459T>C (p.Met1820Thr)
NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly) rs1057524423
NM_000069.3(CACNA1S):c.5480T>A (p.Ile1827Asn) rs373693197
NM_000069.3(CACNA1S):c.5504G>A (p.Gly1835Glu)
NM_000069.3(CACNA1S):c.5506C>T (p.Arg1836Ter)
NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly) rs1057524424
NM_000069.3(CACNA1S):c.5585_5602del (p.Gln1862_Thr1867del)
NM_000069.3(CACNA1S):c.5602C>T (p.Leu1868Phe)
NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser)
NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)
NM_000069.3(CACNA1S):c.731C>A (p.Pro244His)
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)
NM_000069.3(CACNA1S):c.83C>G (p.Pro28Arg)
NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)
NM_000069.3(CACNA1S):c.858_860dup (p.Tyr286_Gln287insHis) rs2102160234
NM_000069.3(CACNA1S):c.872T>C (p.Met291Thr)
NM_000069.3(CACNA1S):c.887A>T (p.Asp296Val)
NM_000069.3(CACNA1S):c.900+5G>A
NM_000069.3(CACNA1S):c.932G>T (p.Trp311Leu)
NM_000069.3(CACNA1S):c.982C>A (p.Leu328Met) rs1558078309
NM_000083.3(CLCN1):c.1251+11G>T rs780748786
NM_000083.3(CLCN1):c.1251+14G>A rs1027351084
NM_000083.3(CLCN1):c.1254G>C (p.Leu418Phe) rs1472138354
NM_000083.3(CLCN1):c.1396A>C (p.Met466Leu) rs776848644
NM_000083.3(CLCN1):c.156C>T (p.Pro52=) rs886062032
NM_000083.3(CLCN1):c.1796+2_1796+6del rs1563084796
NM_000083.3(CLCN1):c.1867G>A (p.Gly623Arg) rs886062035
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2192dup (p.His732fs) rs1563087702
NM_000083.3(CLCN1):c.2264C>T (p.Pro755Leu) rs1803241372
NM_000083.3(CLCN1):c.2615G>A (p.Gly872Glu) rs1803406966
NM_000083.3(CLCN1):c.2713G>A (p.Glu905Lys) rs886062036
NM_000083.3(CLCN1):c.2815C>G (p.Pro939Ala) rs574104250
NM_000083.3(CLCN1):c.546C>G (p.Ile182Met) rs980845093
NM_000083.3(CLCN1):c.563-13T>G rs1802439916
NM_000083.3(CLCN1):c.57C>A (p.Asp19Glu) rs886062031
NM_000116.5(TAFAZZIN):c.*165T>A rs2068620449
NM_000116.5(TAFAZZIN):c.*387C>T rs1057515819
NM_000116.5(TAFAZZIN):c.*648A>C rs1413243483
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
NM_000116.5(TAFAZZIN):c.110-18C>T
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
NM_000116.5(TAFAZZIN):c.13G>A (p.Val5Met)
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser) rs2068328744
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu) rs1322365208
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn) rs2068329796
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe) rs2068330347
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
NM_000116.5(TAFAZZIN):c.223G>T (p.Asp75Tyr)
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu) rs878853654
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg) rs794729173
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
NM_000116.5(TAFAZZIN):c.238+6C>T rs781786197
NM_000116.5(TAFAZZIN):c.243C>G (p.Ile81Met)
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
NM_000116.5(TAFAZZIN):c.284+3G>C rs1569552708
NM_000116.5(TAFAZZIN):c.284+4A>T rs1603377638
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
NM_000116.5(TAFAZZIN):c.293C>T (p.Ala98Val)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu) rs1281729528
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
NM_000116.5(TAFAZZIN):c.370+2T>A
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys) rs2068411768
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
NM_000116.5(TAFAZZIN):c.387A>G (p.Gln129=)
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
NM_000116.5(TAFAZZIN):c.408T>G (p.Gly136=)
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile) rs2068412679
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val) rs1603378339
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs) rs782253789
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg) rs2068414496
NM_000116.5(TAFAZZIN):c.461-10_461-5del
NM_000116.5(TAFAZZIN):c.461-3C>A
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser) rs1227132566
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg) rs2068313278
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys) rs1603376560
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
NM_000116.5(TAFAZZIN):c.541+13_541+28del
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
NM_000116.5(TAFAZZIN):c.541+5G>A rs2068571041
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.542-9T>C
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu) rs2068574531
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.572G>A (p.Arg191His) rs876661034
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
NM_000116.5(TAFAZZIN):c.583+5G>A
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
NM_000116.5(TAFAZZIN):c.586A>G (p.Ile196Val)
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His) rs2148212627
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
NM_000116.5(TAFAZZIN):c.646+5G>T
NM_000116.5(TAFAZZIN):c.647-6C>T rs901353067
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu) rs727504431
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu) rs140751478
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
NM_000116.5(TAFAZZIN):c.696A>G (p.Gly232=)
NM_000116.5(TAFAZZIN):c.699+6T>G
NM_000116.5(TAFAZZIN):c.699+6del
NM_000116.5(TAFAZZIN):c.700-13G>A
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
NM_000116.5(TAFAZZIN):c.709G>A (p.Val237Met)
NM_000116.5(TAFAZZIN):c.718G>T (p.Gly240Trp)
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly) rs372689133
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp) rs2068605582
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu) rs2068606445
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
NM_000116.5(TAFAZZIN):c.777+3G>A rs2068606988
NM_000116.5(TAFAZZIN):c.777+6T>C rs782175712
NM_000116.5(TAFAZZIN):c.787C>T (p.Arg263Trp)
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.796C>G (p.Leu266Val) rs1557194499
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000116.5(TAFAZZIN):c.804del (p.Phe269fs)
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
NM_000116.5(TAFAZZIN):c.81G>T (p.Leu27Phe)
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His) rs1025920600
NM_000116.5(TAFAZZIN):c.84G>A (p.Val28=)
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
NM_000116.5(TAFAZZIN):c.872G>A (p.Gly291Glu)
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile) rs2068315101
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
NM_000116.5(TAFAZZIN):c.98G>T (p.Cys33Phe)
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.1039G>A (p.Val347Ile)
NM_000182.5(HADHA):c.1049A>G (p.Lys350Arg) rs757845324
NM_000182.5(HADHA):c.1085+5G>A
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) rs370054250
NM_000182.5(HADHA):c.116C>G (p.Thr39Ser)
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu) rs770219903
NM_000182.5(HADHA):c.130G>A (p.Gly44Arg)
NM_000182.5(HADHA):c.134T>G (p.Val45Gly)
NM_000182.5(HADHA):c.1393-3C>T
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu) rs1226499517
NM_000182.5(HADHA):c.13C>T (p.Arg5Trp)
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro) rs1669713015
NM_000182.5(HADHA):c.1480-139C>G
NM_000182.5(HADHA):c.1480-3C>T
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
NM_000182.5(HADHA):c.161T>G (p.Ile54Ser) rs2147785483
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys) rs2147753043
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.1703C>T (p.Pro568Leu)
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
NM_000182.5(HADHA):c.173A>G (p.Asn58Ser)
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala) rs1574602341
NM_000182.5(HADHA):c.1748G>A (p.Gly583Asp)
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly) rs1574602310
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser) rs374174659
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe) rs1669530829
NM_000182.5(HADHA):c.2000+5G>C
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala) rs1669507749
NM_000182.5(HADHA):c.2009A>G (p.Asp670Gly)
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu) rs1204190984
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile) rs2147749338
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000182.5(HADHA):c.2146+19G>C
NM_000182.5(HADHA):c.2147-2A>G
NM_000182.5(HADHA):c.217T>C (p.Ser73Pro)
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
NM_000182.5(HADHA):c.2213C>T (p.Ala738Val)
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.230A>G (p.Asn77Ser)
NM_000182.5(HADHA):c.242C>T (p.Ala81Val)
NM_000182.5(HADHA):c.252A>C (p.Gln84His) rs2147784410
NM_000182.5(HADHA):c.265G>A (p.Val89Ile)
NM_000182.5(HADHA):c.269T>G (p.Leu90Arg) rs2147784395
NM_000182.5(HADHA):c.282G>C (p.Lys94Asn)
NM_000182.5(HADHA):c.362A>G (p.Gln121Arg)
NM_000182.5(HADHA):c.431C>T (p.Ser144Phe) rs758107197
NM_000182.5(HADHA):c.453G>A (p.Glu151=)
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.467G>A (p.Cys156Tyr) rs1670643151
NM_000182.5(HADHA):c.496A>G (p.Lys166Glu)
NM_000182.5(HADHA):c.512C>T (p.Thr171Ile)
NM_000182.5(HADHA):c.560G>A (p.Arg187Lys)
NM_000182.5(HADHA):c.573G>A (p.Met191Ile) rs2147781167
NM_000182.5(HADHA):c.623G>A (p.Arg208His)
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.704G>A (p.Arg235Gln)
NM_000182.5(HADHA):c.711A>G (p.Ile237Met)
NM_000182.5(HADHA):c.713A>C (p.Glu238Ala)
NM_000182.5(HADHA):c.734T>G (p.Ile245Ser)
NM_000182.5(HADHA):c.73A>G (p.Ile25Val)
NM_000182.5(HADHA):c.743C>T (p.Ala248Val) rs199688741
NM_000182.5(HADHA):c.767T>A (p.Ile256Asn) rs1490396477
NM_000182.5(HADHA):c.785A>C (p.Lys262Thr)
NM_000182.5(HADHA):c.799+5G>A
NM_000182.5(HADHA):c.800A>G (p.Lys267Arg)
NM_000182.5(HADHA):c.808G>A (p.Ala270Thr) rs1574615066
NM_000182.5(HADHA):c.80G>A (p.Arg27His) rs200145855
NM_000182.5(HADHA):c.901C>A (p.Pro301Thr)
NM_000182.5(HADHA):c.918+5G>A
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862
NM_000182.5(HADHA):c.944G>A (p.Gly315Glu)
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.995T>C (p.Met332Thr)
NM_000182.5(HADHA):c.995T>G (p.Met332Arg) rs752285354
NM_000183.3(HADHB):c.*241T>G rs886055867
NM_000183.3(HADHB):c.*244T>G rs886055868
NM_000183.3(HADHB):c.*268G>A rs886055869
NM_000183.3(HADHB):c.*380A>G rs886055870
NM_000183.3(HADHB):c.-9+11G>C rs886055866
NM_000183.3(HADHB):c.1044A>C (p.Lys348Asn) rs1038882025
NM_000183.3(HADHB):c.1048C>A (p.Gln350Lys)
NM_000183.3(HADHB):c.1061+3A>G
NM_000183.3(HADHB):c.1064C>T (p.Pro355Leu) rs2147831289
NM_000183.3(HADHB):c.106C>T (p.Pro36Ser)
NM_000183.3(HADHB):c.109+4C>T rs769724590
NM_000183.3(HADHB):c.109+5A>G
NM_000183.3(HADHB):c.109G>C (p.Ala37Pro)
NM_000183.3(HADHB):c.1110G>C (p.Met370Ile)
NM_000183.3(HADHB):c.1123G>A (p.Ala375Thr) rs1558360702
NM_000183.3(HADHB):c.1128T>G (p.Phe376Leu) rs2147831395
NM_000183.3(HADHB):c.112G>T (p.Val38Phe)
NM_000183.3(HADHB):c.1142C>T (p.Ala381Val) rs774703599
NM_000183.3(HADHB):c.1149+4A>G rs2303893
NM_000183.3(HADHB):c.1180G>T (p.Asp394Tyr)
NM_000183.3(HADHB):c.1186G>T (p.Asp396Tyr) rs2147832336
NM_000183.3(HADHB):c.1189T>C (p.Trp397Arg)
NM_000183.3(HADHB):c.1203C>A (p.Asn401Lys)
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1279G>A (p.Gly427Arg)
NM_000183.3(HADHB):c.1319C>G (p.Ala440Gly)
NM_000183.3(HADHB):c.1321G>A (p.Ala441Thr)
NM_000183.3(HADHB):c.1357G>A (p.Gly453Ser)
NM_000183.3(HADHB):c.1369G>A (p.Ala457Thr)
NM_000183.3(HADHB):c.1387C>G (p.Gln463Glu)
NM_000183.3(HADHB):c.1390-515_1390-499del
NM_000183.3(HADHB):c.1397C>T (p.Ala466Val)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_000183.3(HADHB):c.1399A>G (p.Met467Val)
NM_000183.3(HADHB):c.1405G>A (p.Val469Met) rs1673196031
NM_000183.3(HADHB):c.1409A>C (p.Glu470Ala) rs2147837732
NM_000183.3(HADHB):c.149A>T (p.Asn50Ile)
NM_000183.3(HADHB):c.150T>A (p.Asn50Lys)
NM_000183.3(HADHB):c.166G>T (p.Val56Leu)
NM_000183.3(HADHB):c.206C>G (p.Thr69Ser)
NM_000183.3(HADHB):c.210-17T>A
NM_000183.3(HADHB):c.210-5C>A rs763169112
NM_000183.3(HADHB):c.214A>G (p.Lys72Glu)
NM_000183.3(HADHB):c.221T>G (p.Leu74Arg)
NM_000183.3(HADHB):c.223A>T (p.Met75Leu)
NM_000183.3(HADHB):c.248C>T (p.Ala83Val)
NM_000183.3(HADHB):c.254C>T (p.Thr85Met)
NM_000183.3(HADHB):c.260T>C (p.Leu87Ser) rs1171889657
NM_000183.3(HADHB):c.299A>G (p.Tyr100Cys)
NM_000183.3(HADHB):c.32T>C (p.Leu11Pro)
NM_000183.3(HADHB):c.341A>G (p.Asn114Ser)
NM_000183.3(HADHB):c.346G>T (p.Ala116Ser) rs766228457
NM_000183.3(HADHB):c.355-12T>C
NM_000183.3(HADHB):c.388C>T (p.Pro130Ser)
NM_000183.3(HADHB):c.431C>T (p.Ala144Val) rs1672561193
NM_000183.3(HADHB):c.443-10T>A
NM_000183.3(HADHB):c.469T>G (p.Cys157Gly)
NM_000183.3(HADHB):c.481G>A (p.Val161Met)
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_000183.3(HADHB):c.496G>A (p.Glu166Lys)
NM_000183.3(HADHB):c.508G>A (p.Asp170Asn)
NM_000183.3(HADHB):c.556C>G (p.Leu186Val)
NM_000183.3(HADHB):c.632T>A (p.Leu211His) rs1446857112
NM_000183.3(HADHB):c.652T>C (p.Ser218Pro)
NM_000183.3(HADHB):c.658A>G (p.Ser220Gly)
NM_000183.3(HADHB):c.65C>G (p.Ser22Cys) rs1671530038
NM_000183.3(HADHB):c.679G>A (p.Ala227Thr)
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.694G>T (p.Ala232Ser) rs987203346
NM_000183.3(HADHB):c.710C>G (p.Ser237Cys)
NM_000183.3(HADHB):c.716T>C (p.Leu239Pro)
NM_000183.3(HADHB):c.754G>A (p.Ala252Thr) rs770044899
NM_000183.3(HADHB):c.80G>C (p.Ser27Thr)
NM_000183.3(HADHB):c.832G>C (p.Asp278His) rs982733832
NM_000183.3(HADHB):c.863A>G (p.Gln288Arg)
NM_000183.3(HADHB):c.91C>G (p.Gln31Glu)
NM_000183.3(HADHB):c.923C>A (p.Ser308Tyr)
NM_000183.3(HADHB):c.930C>A (p.Phe310Leu)
NM_000183.3(HADHB):c.933+6del
NM_000183.3(HADHB):c.944C>T (p.Ala315Val)
NM_000183.3(HADHB):c.953T>G (p.Met318Arg) rs2147829865
NM_000183.3(HADHB):c.965C>A (p.Ala322Glu)
NM_000183.3(HADHB):c.982G>A (p.Ala328Thr)
NM_000183.3(HADHB):c.989G>A (p.Gly330Asp) rs1349682003
NM_000183.3(HADHB):c.994A>G (p.Lys332Glu) rs777680722
NM_000252.3(MTM1):c.1049T>C (p.Ile350Thr)
NM_000252.3(MTM1):c.1053+5G>A rs1557414132
NM_000252.3(MTM1):c.1053+5G>T rs1557414132
NM_000252.3(MTM1):c.1084G>C (p.Asp362His) rs2148508579
NM_000252.3(MTM1):c.1107T>A (p.Ser369Arg) rs2148508637
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) rs2040151430
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu) rs1569565526
NM_000252.3(MTM1):c.1234A>C (p.Ile412Leu)
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1340A>G (p.Gln447Arg)
NM_000252.3(MTM1):c.1353+4A>C
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.136+172T>C
NM_000252.3(MTM1):c.136+5G>A
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.3(MTM1):c.1369G>A (p.Glu457Lys) rs398123269
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.1389G>T (p.Leu463Phe)
NM_000252.3(MTM1):c.1406A>C (p.His469Pro) rs587783789
NM_000252.3(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.3(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.3(MTM1):c.1423T>C (p.Phe475Leu)
NM_000252.3(MTM1):c.1429A>G (p.Thr477Ala) rs2040200948
NM_000252.3(MTM1):c.1438T>C (p.Phe480Leu)
NM_000252.3(MTM1):c.144A>G (p.Glu48=)
NM_000252.3(MTM1):c.145G>A (p.Val49Ile) rs587783796
NM_000252.3(MTM1):c.1464A>C (p.Arg488Ser)
NM_000252.3(MTM1):c.1469A>G (p.Lys490Arg) rs781948606
NM_000252.3(MTM1):c.1470G>T (p.Lys490Asn)
NM_000252.3(MTM1):c.1475C>T (p.Thr492Ile)
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg) rs587783801
NM_000252.3(MTM1):c.1525T>C (p.Phe509Leu) rs2040257723
NM_000252.3(MTM1):c.1529A>G (p.Lys510Arg) rs2148515610
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000252.3(MTM1):c.1546A>G (p.Lys516Glu) rs868972342
NM_000252.3(MTM1):c.156A>G (p.Ile52Met)
NM_000252.3(MTM1):c.1573G>T (p.Val525Phe)
NM_000252.3(MTM1):c.1604T>A (p.Val535Glu) rs2148515723
NM_000252.3(MTM1):c.1627C>A (p.Pro543Thr)
NM_000252.3(MTM1):c.1627C>T (p.Pro543Ser)
NM_000252.3(MTM1):c.1649C>T (p.Pro550Leu)
NM_000252.3(MTM1):c.1666C>T (p.Arg556Cys) rs1603214706
NM_000252.3(MTM1):c.1667G>A (p.Arg556His) rs372735301
NM_000252.3(MTM1):c.1673T>C (p.Met558Thr)
NM_000252.3(MTM1):c.1693G>A (p.Asp565Asn)
NM_000252.3(MTM1):c.1697A>G (p.Glu566Gly)
NM_000252.3(MTM1):c.1724A>C (p.Gln575Pro) rs1347335331
NM_000252.3(MTM1):c.1733A>C (p.Asn578Thr)
NM_000252.3(MTM1):c.1748C>T (p.Ser583Phe)
NM_000252.3(MTM1):c.1753C>G (p.Pro585Ala) rs1195705222
NM_000252.3(MTM1):c.1759A>G (p.Thr587Ala)
NM_000252.3(MTM1):c.1778C>T (p.Ser593Leu)
NM_000252.3(MTM1):c.232G>C (p.Asp78His)
NM_000252.3(MTM1):c.271_272delinsAT (p.Ser91Met)
NM_000252.3(MTM1):c.295G>A (p.Ala99Thr)
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly) rs587783818
NM_000252.3(MTM1):c.32C>T (p.Ser11Leu)
NM_000252.3(MTM1):c.335C>G (p.Thr112Ser)
NM_000252.3(MTM1):c.359G>A (p.Arg120Lys)
NM_000252.3(MTM1):c.364G>T (p.Ala122Ser)
NM_000252.3(MTM1):c.397A>G (p.Met133Val) rs2039434563
NM_000252.3(MTM1):c.410T>C (p.Leu137Pro) rs2148461766
NM_000252.3(MTM1):c.421G>C (p.Ala141Pro) rs1557413215
NM_000252.3(MTM1):c.439A>G (p.Ser147Gly) rs964287315
NM_000252.3(MTM1):c.463A>T (p.Asn155Tyr)
NM_000252.3(MTM1):c.469G>C (p.Glu157Gln)
NM_000252.3(MTM1):c.520A>G (p.Arg174Gly)
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_000252.3(MTM1):c.528G>A (p.Gln176=)
NM_000252.3(MTM1):c.530G>T (p.Gly177Val) rs1603187659
NM_000252.3(MTM1):c.535C>A (p.Pro179Thr) rs587783832
NM_000252.3(MTM1):c.543C>G (p.His181Gln) rs1603187692
NM_000252.3(MTM1):c.544C>T (p.His182Tyr) rs2148488398
NM_000252.3(MTM1):c.553A>T (p.Ile185Leu) rs2148488427
NM_000252.3(MTM1):c.560T>C (p.Phe187Ser)
NM_000252.3(MTM1):c.562A>C (p.Ile188Leu)
NM_000252.3(MTM1):c.5C>T (p.Ala2Val) rs1603118990
NM_000252.3(MTM1):c.606G>T (p.Leu202Phe)
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly) rs587783842
NM_000252.3(MTM1):c.629A>T (p.Asp210Val)
NM_000252.3(MTM1):c.62G>A (p.Arg21Lys) rs2148425592
NM_000252.3(MTM1):c.640C>T (p.Arg214Trp)
NM_000252.3(MTM1):c.641G>A (p.Arg214Gln)
NM_000252.3(MTM1):c.665G>A (p.Arg222Gln)
NM_000252.3(MTM1):c.678+5G>A
NM_000252.3(MTM1):c.678+6T>A rs2039847628
NM_000252.3(MTM1):c.678A>G (p.Pro226=)
NM_000252.3(MTM1):c.71G>A (p.Arg24Gln)
NM_000252.3(MTM1):c.71G>C (p.Arg24Pro)
NM_000252.3(MTM1):c.727A>G (p.Ser243Gly) rs2148493156
NM_000252.3(MTM1):c.734C>T (p.Pro245Leu) rs1557413958
NM_000252.3(MTM1):c.74A>G (p.Asp25Gly)
NM_000252.3(MTM1):c.76_90del (p.Gly26_Asp30del) rs1603124011
NM_000252.3(MTM1):c.770A>G (p.Asp257Gly)
NM_000252.3(MTM1):c.800C>T (p.Thr267Ile)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg) rs2148493317
NM_000252.3(MTM1):c.83A>G (p.Asn28Ser)
NM_000252.3(MTM1):c.898G>A (p.Ala300Thr) rs2148497733
NM_000252.3(MTM1):c.905A>G (p.His302Arg) rs2148497756
NM_000252.3(MTM1):c.913G>C (p.Glu305Gln) rs587783861
NM_000252.3(MTM1):c.944A>G (p.His315Arg) rs2148497817
NM_000252.3(MTM1):c.946G>A (p.Val316Ile) rs2148497828
NM_000252.3(MTM1):c.952C>T (p.Arg318Trp) rs2039989751
NM_000252.3(MTM1):c.963A>T (p.Leu321Phe)
NM_000252.3(MTM1):c.989C>T (p.Pro330Leu) rs2148497898
NM_000257.4(MYH7):c.-39C>A rs886050424
NM_000257.4(MYH7):c.-47G>T rs886050425
NM_000257.4(MYH7):c.1138+7G>A rs886050423
NM_000257.4(MYH7):c.1287G>C (p.Lys429Asn)
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val) rs730880873
NM_000257.4(MYH7):c.1482T>G (p.Phe494Leu)
NM_000257.4(MYH7):c.1671G>T (p.Leu557=) rs149386750
NM_000257.4(MYH7):c.1755C>A (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2053del (p.Asp685fs) rs1566532860
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr) rs769396106
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys) rs1427104281
NM_000257.4(MYH7):c.2424-7C>T rs759141144
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr) rs2138665874
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly) rs1236517740
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr) rs1566530777
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met) rs1892589863
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu) rs1350140484
NM_000257.4(MYH7):c.2869C>A (p.Leu957Met)
NM_000257.4(MYH7):c.2877G>A (p.Leu959=) rs886039162
NM_000257.4(MYH7):c.2923-6C>A rs587781082
NM_000257.4(MYH7):c.2923G>A (p.Val975Met) rs1892576769
NM_000257.4(MYH7):c.292G>A (p.Glu98Lys) rs1440846436
NM_000257.4(MYH7):c.2936C>G (p.Thr979Arg) rs886050421
NM_000257.4(MYH7):c.2955G>A (p.Leu985=) rs886050420
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr) rs753137666
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) rs1892572355
NM_000257.4(MYH7):c.3030T>G (p.Leu1010=) rs747004925
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu) rs1000681552
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg) rs763760498
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=) rs730880767
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser) rs1555337299
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr) rs759256990
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His) rs375323916
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA rs1892420744
NM_000257.4(MYH7):c.3363G>C (p.Glu1121Asp) rs886041113
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser) rs1211784451
NM_000257.4(MYH7):c.3558G>A (p.Glu1186=) rs1415340981
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn) rs730880780
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser) rs757538583
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3789G>T (p.Ala1263=) rs137918672
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val) rs886050419
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4169+6T>G rs886050417
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4285_4287del (p.Met1429del) rs1892274161
NM_000257.4(MYH7):c.4395G>A (p.Ser1465=) rs397516213
NM_000257.4(MYH7):c.4451T>C (p.Leu1484Pro) rs1595074765
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly) rs879196018
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val) rs1555336580
NM_000257.4(MYH7):c.4631T>C (p.Leu1544Pro) rs1892234748
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val) rs730880804
NM_000257.4(MYH7):c.4644+5G>C rs730880797
NM_000257.4(MYH7):c.4691A>C (p.Glu1564Ala)
NM_000257.4(MYH7):c.4729G>A (p.Ala1577Thr) rs1892202753
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr) rs1595073523
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly) rs1892196940
NM_000257.4(MYH7):c.4828G>A (p.Glu1610Lys) rs730880810
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4953+4C>T rs933520031
NM_000257.4(MYH7):c.4953+6C>A rs1892187663
NM_000257.4(MYH7):c.4978G>C (p.Ala1660Pro) rs1892176969
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) rs1006534868
NM_000257.4(MYH7):c.5087A>G (p.Glu1696Gly) rs1892168471
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5208G>C (p.Gln1736His) rs886050416
NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro) rs1892139406
NM_000257.4(MYH7):c.5361A>C (p.Glu1787Asp)
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly) rs145734640
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly) rs1595071680
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr) rs886050415
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5503G>C (p.Glu1835Gln) rs758436258
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys) rs1057522617
NM_000257.4(MYH7):c.5655+4A>T
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile) rs2138635423
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp) rs146796870
NM_000257.4(MYH7):c.5793C>T (p.Gly1931=) rs148420672
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu) rs779190577
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.805G>A (p.Glu269Lys)
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg) rs878853843
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.899T>C (p.Met300Thr) rs1892892787
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu) rs771522982
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr) rs372731424
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe) rs1566536367
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu) rs1893043424
NM_000334.4(SCN4A):c.*1345A>G rs1908450197
NM_000334.4(SCN4A):c.*1497C>T rs1908443762
NM_000334.4(SCN4A):c.*1505G>T rs1908443410
NM_000334.4(SCN4A):c.*1599A>G rs1908440330
NM_000334.4(SCN4A):c.*1875A>G rs886053239
NM_000334.4(SCN4A):c.*1890C>A rs886053238
NM_000334.4(SCN4A):c.*1986G>A
NM_000334.4(SCN4A):c.*203T>G rs1908484940
NM_000334.4(SCN4A):c.*2169C>G rs191754378
NM_000334.4(SCN4A):c.*315C>T rs886053245
NM_000334.4(SCN4A):c.-5C>T
NM_000334.4(SCN4A):c.-67G>A rs191783461
NM_000334.4(SCN4A):c.1030G>A (p.Asp344Asn)
NM_000334.4(SCN4A):c.109G>A (p.Ala37Thr)
NM_000334.4(SCN4A):c.1121A>C (p.Glu374Ala)
NM_000334.4(SCN4A):c.1132A>G (p.Thr378Ala) rs2144807432
NM_000334.4(SCN4A):c.1138C>T (p.Arg380Trp)
NM_000334.4(SCN4A):c.1242+6G>T
NM_000334.4(SCN4A):c.1250G>A (p.Arg417Gln)
NM_000334.4(SCN4A):c.1270A>G (p.Met424Val)
NM_000334.4(SCN4A):c.1282G>T (p.Val428Leu) rs532921435
NM_000334.4(SCN4A):c.1301G>C (p.Gly434Ala)
NM_000334.4(SCN4A):c.1339G>A (p.Ala447Thr)
NM_000334.4(SCN4A):c.1356G>C (p.Glu452Asp) rs749394640
NM_000334.4(SCN4A):c.1362T>A (p.Asn454Lys)
NM_000334.4(SCN4A):c.1366G>A (p.Ala456Thr)
NM_000334.4(SCN4A):c.1380G>A (p.Glu460=)
NM_000334.4(SCN4A):c.1393GAG[2] (p.Glu467del)
NM_000334.4(SCN4A):c.1438G>C (p.Glu480Gln)
NM_000334.4(SCN4A):c.1480G>A (p.Gly494Arg)
NM_000334.4(SCN4A):c.1505A>G (p.His502Arg)
NM_000334.4(SCN4A):c.1533C>A (p.Asp511Glu)
NM_000334.4(SCN4A):c.1543G>A (p.Gly515Arg) rs1003243368
NM_000334.4(SCN4A):c.1553G>A (p.Gly518Glu) rs778649637
NM_000334.4(SCN4A):c.1559C>G (p.Pro520Arg) rs753391449
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser) rs143457794
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys) rs143457794
NM_000334.4(SCN4A):c.1607A>T (p.Glu536Val)
NM_000334.4(SCN4A):c.1619C>T (p.Ala540Val)
NM_000334.4(SCN4A):c.1636C>T (p.Pro546Ser)
NM_000334.4(SCN4A):c.1666C>T (p.Leu556Phe)
NM_000334.4(SCN4A):c.1711A>G (p.Ile571Val) rs1703227330
NM_000334.4(SCN4A):c.1758C>G (p.Ile586Met)
NM_000334.4(SCN4A):c.1823A>G (p.Asn608Ser)
NM_000334.4(SCN4A):c.188A>G (p.Asn63Ser)
NM_000334.4(SCN4A):c.1897G>T (p.Asp633Tyr)
NM_000334.4(SCN4A):c.190C>G (p.Leu64Val) rs1480788895
NM_000334.4(SCN4A):c.1999G>A (p.Val667Met) rs1487941051
NM_000334.4(SCN4A):c.215C>T (p.Pro72Leu) rs1303471186
NM_000334.4(SCN4A):c.2214C>A (p.Asn738Lys)
NM_000334.4(SCN4A):c.2222G>A (p.Arg741His)
NM_000334.4(SCN4A):c.2297T>C (p.Met766Thr)
NM_000334.4(SCN4A):c.2303A>G (p.Asp768Gly)
NM_000334.4(SCN4A):c.2375T>C (p.Val792Ala)
NM_000334.4(SCN4A):c.2377-9A>C
NM_000334.4(SCN4A):c.2377G>T (p.Val793Phe)
NM_000334.4(SCN4A):c.2479G>T (p.Gly827Trp) rs1028907866
NM_000334.4(SCN4A):c.2482C>A (p.Arg828Ser)
NM_000334.4(SCN4A):c.2575G>A (p.Gly859Arg)
NM_000334.4(SCN4A):c.2576G>A (p.Gly859Glu) rs886053248
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg) rs752159625
NM_000334.4(SCN4A):c.2599_2616dup (p.864_866AGE[5]) rs768289095
NM_000334.4(SCN4A):c.2612G>A (p.Gly871Glu) rs1908916464
NM_000334.4(SCN4A):c.2623C>G (p.Pro875Ala) rs201148948
NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del) rs760403755
NM_000334.4(SCN4A):c.2689A>G (p.Met897Val)
NM_000334.4(SCN4A):c.2690T>A (p.Met897Lys) rs370879135
NM_000334.4(SCN4A):c.2690T>C (p.Met897Thr) rs370879135
NM_000334.4(SCN4A):c.2711C>A (p.Pro904Gln) rs867372759
NM_000334.4(SCN4A):c.274-20C>G
NM_000334.4(SCN4A):c.283G>A (p.Val95Ile)
NM_000334.4(SCN4A):c.2863C>A (p.Gln955Lys) rs1185395150
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp) rs757322725
NM_000334.4(SCN4A):c.2912A>G (p.Lys971Arg)
NM_000334.4(SCN4A):c.2960G>A (p.Gly987Glu)
NM_000334.4(SCN4A):c.2968C>A (p.Pro990Thr)
NM_000334.4(SCN4A):c.3037C>G (p.Arg1013Gly)
NM_000334.4(SCN4A):c.3037C>T (p.Arg1013Cys) rs1351279439
NM_000334.4(SCN4A):c.3046A>C (p.Lys1016Gln)
NM_000334.4(SCN4A):c.3050G>C (p.Trp1017Ser)
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His) rs770497876
NM_000334.4(SCN4A):c.3095G>C (p.Trp1032Ser)
NM_000334.4(SCN4A):c.3096G>T (p.Trp1032Cys)
NM_000334.4(SCN4A):c.3110T>C (p.Ile1037Thr)
NM_000334.4(SCN4A):c.3163A>C (p.Ile1055Leu)
NM_000334.4(SCN4A):c.3203C>T (p.Ala1068Val)
NM_000334.4(SCN4A):c.3210G>A (p.Lys1070=) rs749973882
NM_000334.4(SCN4A):c.3249A>G (p.Lys1083=) rs1597971116
NM_000334.4(SCN4A):c.3253G>T (p.Val1085Leu)
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3284A>G (p.Asn1095Ser)
NM_000334.4(SCN4A):c.32C>T (p.Pro11Leu)
NM_000334.4(SCN4A):c.3310A>G (p.Ile1104Val)
NM_000334.4(SCN4A):c.3313G>A (p.Val1105Met) rs756884948
NM_000334.4(SCN4A):c.3333C>G (p.Ser1111Arg)
NM_000334.4(SCN4A):c.3377A>G (p.Lys1126Arg)
NM_000334.4(SCN4A):c.3380C>T (p.Ser1127Phe)
NM_000334.4(SCN4A):c.3424C>G (p.Arg1142Gly)
NM_000334.4(SCN4A):c.343A>G (p.Ser115Gly)
NM_000334.4(SCN4A):c.3442-10T>A
NM_000334.4(SCN4A):c.3454G>A (p.Ala1152Thr)
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3578C>T (p.Thr1193Ile)
NM_000334.4(SCN4A):c.3623A>G (p.Glu1208Gly)
NM_000334.4(SCN4A):c.3628G>C (p.Glu1210Gln)
NM_000334.4(SCN4A):c.3633C>A (p.Ser1211Arg)
NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)
NM_000334.4(SCN4A):c.3637A>T (p.Met1213Leu)
NM_000334.4(SCN4A):c.365G>T (p.Arg122Leu) rs374529559
NM_000334.4(SCN4A):c.3679T>C (p.Tyr1227His) rs1908682760
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.3732G>A (p.Lys1244=)
NM_000334.4(SCN4A):c.3772G>A (p.Glu1258Lys) rs886053246
NM_000334.4(SCN4A):c.383T>A (p.Leu128His)
NM_000334.4(SCN4A):c.3872T>A (p.Ile1291Asn)
NM_000334.4(SCN4A):c.387C>G (p.Ile129Met) rs377620351
NM_000334.4(SCN4A):c.3891C>T (p.Asn1297=)
NM_000334.4(SCN4A):c.3986A>G (p.Lys1329Arg)
NM_000334.4(SCN4A):c.4065C>A (p.Phe1355Leu) rs578214396
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.412A>G (p.Met138Val)
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser) rs118047588
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys) rs118047588
NM_000334.4(SCN4A):c.4223G>A (p.Arg1408His)
NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)
NM_000334.4(SCN4A):c.4258G>A (p.Asp1420Asn) rs1908587972
NM_000334.4(SCN4A):c.428C>A (p.Thr143Asn) rs1909633732
NM_000334.4(SCN4A):c.4305C>T (p.Asp1435=)
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=) rs879253789
NM_000334.4(SCN4A):c.4489T>C (p.Ser1497Pro)
NM_000334.4(SCN4A):c.4498G>A (p.Gly1500Ser)
NM_000334.4(SCN4A):c.4527G>C (p.Lys1509Asn)
NM_000334.4(SCN4A):c.4538T>C (p.Ile1513Thr)
NM_000334.4(SCN4A):c.4549T>A (p.Phe1517Ile)
NM_000334.4(SCN4A):c.4558G>A (p.Glu1520Lys) rs898253712
NM_000334.4(SCN4A):c.4573A>G (p.Ser1525Gly)
NM_000334.4(SCN4A):c.4621C>A (p.Leu1541Ile)
NM_000334.4(SCN4A):c.4668C>G (p.Asn1556Lys)
NM_000334.4(SCN4A):c.4678C>T (p.Pro1560Ser)
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser) rs773541890
NM_000334.4(SCN4A):c.4754C>T (p.Ser1585Phe)
NM_000334.4(SCN4A):c.4764C>G (p.Ile1588Met)
NM_000334.4(SCN4A):c.4765G>T (p.Val1589Leu)
NM_000334.4(SCN4A):c.483-3C>G rs759754258
NM_000334.4(SCN4A):c.483-3dup rs753162147
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4831C>A (p.Pro1611Thr)
NM_000334.4(SCN4A):c.4837G>C (p.Gly1613Arg)
NM_000334.4(SCN4A):c.4886C>A (p.Pro1629His)
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val) rs770647690
NM_000334.4(SCN4A):c.4916G>T (p.Arg1639Leu)
NM_000334.4(SCN4A):c.4930G>T (p.Val1644Leu)
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4955G>T (p.Arg1652Met)
NM_000334.4(SCN4A):c.5009C>T (p.Pro1670Leu)
NM_000334.4(SCN4A):c.506C>A (p.Thr169Asn)
NM_000334.4(SCN4A):c.5146G>A (p.Glu1716Lys)
NM_000334.4(SCN4A):c.5152A>G (p.Ile1718Val)
NM_000334.4(SCN4A):c.5156C>A (p.Thr1719Asn)
NM_000334.4(SCN4A):c.5188T>C (p.Cys1730Arg) rs1567815888
NM_000334.4(SCN4A):c.5192C>T (p.Ala1731Val)
NM_000334.4(SCN4A):c.51G>T (p.Leu17Phe)
NM_000334.4(SCN4A):c.5210C>T (p.Ala1737Val)
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys) rs758293600
NM_000334.4(SCN4A):c.527T>C (p.Ile176Thr) rs1909617747
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5294C>G (p.Ala1765Gly) rs748434431
NM_000334.4(SCN4A):c.5297C>T (p.Pro1766Leu)
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys) rs78592515
NM_000334.4(SCN4A):c.5327T>C (p.Met1776Thr)
NM_000334.4(SCN4A):c.5359AGC[1] (p.Ser1789del)
NM_000334.4(SCN4A):c.5372G>T (p.Ser1791Ile) rs1908500124
NM_000334.4(SCN4A):c.5398G>A (p.Asp1800Asn)
NM_000334.4(SCN4A):c.5398G>T (p.Asp1800Tyr)
NM_000334.4(SCN4A):c.5420_5425del6 rs781515976
NM_000334.4(SCN4A):c.5468C>T (p.Pro1823Leu)
NM_000334.4(SCN4A):c.5474A>T (p.Gln1825Leu)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala) rs772628295
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser) rs772628295
NM_000334.4(SCN4A):c.569G>A (p.Arg190Gln)
NM_000334.4(SCN4A):c.641A>G (p.Asn214Ser)
NM_000334.4(SCN4A):c.721G>C (p.Gly241Arg)
NM_000334.4(SCN4A):c.788T>C (p.Val263Ala)
NM_000334.4(SCN4A):c.794C>T (p.Ala265Val)
NM_000334.4(SCN4A):c.870_878del (p.Asn291_Thr293del)
NM_000334.4(SCN4A):c.872A>G (p.Asn291Ser) rs781129876
NM_000334.4(SCN4A):c.886_903dup (p.Ser296_Tyr301dup) rs769414184
NM_000334.4(SCN4A):c.897GTGGTACGGCAATGACAC[3] (p.Asn309_Glu310insAspThrTrpTyrGlyAsnAspThrTrpTyrGlyAsn)
NM_000334.4(SCN4A):c.940G>A (p.Gly314Ser)
NM_000334.4(SCN4A):c.944A>G (p.Asn315Ser)
NM_000334.4(SCN4A):c.95C>A (p.Ala32Glu) rs765525226
NM_000384.3(APOB):c.5266A>T (p.Ser1756Cys)
NM_000398.7(CYB5R3):c.493T>C (p.Ser165Pro)
NM_000431.4(MVK):c.788C>G (p.Pro263Arg)
NM_000432.4(MYL2):c.*84C>T rs867853414
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu) rs1064796377
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) rs2136777356
NM_000540.3(RYR1):c.-61A>C rs1192726936
NM_000540.3(RYR1):c.-65G>C rs1204515719
NM_000540.3(RYR1):c.-69T>C rs886054377
NM_000540.3(RYR1):c.-70dup rs886054376
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.-81dup rs886054374
NM_000540.3(RYR1):c.10009C>T (p.Arg3337Trp)
NM_000540.3(RYR1):c.10010G>T (p.Arg3337Leu)
NM_000540.3(RYR1):c.1011G>T (p.Glu337Asp)
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10466C>G (p.Ser3489Trp) rs764263987
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp) rs147058802
NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=) rs1971495978
NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)
NM_000540.3(RYR1):c.10910G>A (p.Arg3637His) rs747528384
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr) rs2145723708
NM_000540.3(RYR1):c.10961T>C (p.Leu3654Pro)
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser) rs765145018
NM_000540.3(RYR1):c.11021T>C (p.Ile3674Thr)
NM_000540.3(RYR1):c.11119C>T (p.Arg3707Cys) rs781379239
NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)
NM_000540.3(RYR1):c.11138A>G (p.Lys3713Arg) rs1971614117
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr) rs377558801
NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)
NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)
NM_000540.3(RYR1):c.11524G>C (p.Asp3842His)
NM_000540.3(RYR1):c.11531A>T (p.Asn3844Ile)
NM_000540.3(RYR1):c.11623G>A (p.Ala3875Thr) rs764309886
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)
NM_000540.3(RYR1):c.11819A>G (p.Asp3940Gly) rs1972296147
NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys) rs748748397
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.11990A>G (p.His3997Arg)
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.12015C>A (p.Asp4005Glu)
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro) rs1972430121
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.3(RYR1):c.12094+4A>G rs1972431144
NM_000540.3(RYR1):c.12218C>G (p.Ser4073Cys)
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu) rs1568562966
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile) rs1568575693
NM_000540.3(RYR1):c.12373G>A (p.Glu4125Lys) rs1973119741
NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr) rs1213878810
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del) rs1176364208
NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp) rs982601268
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser) rs199660276
NM_000540.3(RYR1):c.125G>A (p.Gly42Asp) rs1972639264
NM_000540.3(RYR1):c.12619C>A (p.Pro4207Thr) rs886054403
NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del) rs2145843330
NM_000540.3(RYR1):c.12754G>C (p.Glu4252Gln) rs1973328675
NM_000540.3(RYR1):c.12779ACGAGG[1] (p.4260DE[1]) rs746833347
NM_000540.3(RYR1):c.12779ACGAGG[3] (p.4260DE[3]) rs746833347
NM_000540.3(RYR1):c.12787G>A (p.Glu4263Lys) rs1471120810
NM_000540.3(RYR1):c.12803_12817del (p.Ala4268_Ala4272del) rs938670458
NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup) rs1339923680
NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup) rs1599634685
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu) rs1973345393
NM_000540.3(RYR1):c.12907C>T (p.Arg4303Trp) rs1027792397
NM_000540.3(RYR1):c.12951GCGGCGGCT[1] (p.4318RRL[1]) rs193922846
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.12955C>T (p.Arg4319Trp) rs1973350586
NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg) rs752855919
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr) rs1204041410
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3]) rs1036726331
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.13060G>A (p.Ala4354Thr) rs1214553487
NM_000540.3(RYR1):c.13091G>C (p.Gly4364Ala) rs1973361809
NM_000540.3(RYR1):c.13104G>A (p.Val4368=) rs1357186643
NM_000540.3(RYR1):c.13128G>A (p.Val4376=) rs886054406
NM_000540.3(RYR1):c.13145G>A (p.Gly4382Asp) rs1973365556
NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys) rs1413644550
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=) rs543458339
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg) rs1472582325
NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg) rs1183376732
NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr) rs1973378079
NM_000540.3(RYR1):c.13281C>G (p.His4427Gln) rs1396461166
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13342C>T (p.Pro4448Ser) rs886054407
NM_000540.3(RYR1):c.13352C>A (p.Ala4451Asp) rs886054408
NM_000540.3(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup) rs886054409
NM_000540.3(RYR1):c.13363G>A (p.Gly4455Arg)
NM_000540.3(RYR1):c.13409G>T (p.Gly4470Val) rs1261297305
NM_000540.3(RYR1):c.13437+14C>A rs771599721
NM_000540.3(RYR1):c.13437+14C>T rs771599721
NM_000540.3(RYR1):c.13467AGAGCC[3] (p.4489PE[6]) rs751816707
NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys) rs1967156624
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.13565C>A (p.Pro4522His) rs145167688
NM_000540.3(RYR1):c.13565C>G (p.Pro4522Arg) rs145167688
NM_000540.3(RYR1):c.13579C>T (p.Pro4527Ser) rs1049222611
NM_000540.3(RYR1):c.13616G>A (p.Gly4539Asp) rs1599641292
NM_000540.3(RYR1):c.13628G>C (p.Gly4543Ala) rs200002274
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13699G>T (p.Ala4567Ser) rs371441593
NM_000540.3(RYR1):c.13746+4C>G rs1973676634
NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser) rs2145869414
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)
NM_000540.3(RYR1):c.14173G>C (p.Val4725Leu) rs1049117716
NM_000540.3(RYR1):c.14200G>A (p.Gly4734Arg) rs1456212776
NM_000540.3(RYR1):c.14288C>A (p.Pro4763Gln) rs1974035851
NM_000540.3(RYR1):c.14291G>A (p.Gly4764Glu) rs1974036074
NM_000540.3(RYR1):c.14304-6C>A rs794728693
NM_000540.3(RYR1):c.14364+1G>T rs1974046221
NM_000540.3(RYR1):c.1440+13C>T rs774459267
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu) rs2145896441
NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)
NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) rs1008860336
NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14647-3C>G rs1974401494
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000540.3(RYR1):c.14725G>A (p.Glu4909Lys)
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser)
NM_000540.3(RYR1):c.14981T>C (p.Met4994Thr) rs886054412
NM_000540.3(RYR1):c.15036G>T (p.Trp5012Cys)
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.3(RYR1):c.1609G>A (p.Ala537Thr) rs774229699
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu) rs1032364286
NM_000540.3(RYR1):c.1808G>A (p.Cys603Tyr) rs886054380
NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)
NM_000540.3(RYR1):c.1888C>G (p.Leu630Val) rs2145406736
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser) rs1316726339
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.2164A>G (p.Thr722Ala) rs1183569355
NM_000540.3(RYR1):c.2172C>G (p.His724Gln)
NM_000540.3(RYR1):c.2384G>A (p.Arg795His) rs201635585
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly) rs150633775
NM_000540.3(RYR1):c.24C>A (p.Asp8Glu) rs1331891798
NM_000540.3(RYR1):c.251C>G (p.Thr84Arg) rs186983396
NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro) rs1555772266
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu) rs370634440
NM_000540.3(RYR1):c.2682G>C (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)
NM_000540.3(RYR1):c.2812G>T (p.Val938Leu)
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala) rs143331857
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly) rs374477216
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met) rs540088339
NM_000540.3(RYR1):c.3149A>G (p.Tyr1050Cys)
NM_000540.3(RYR1):c.334C>T (p.His112Tyr)
NM_000540.3(RYR1):c.3391T>G (p.Trp1131Gly)
NM_000540.3(RYR1):c.3410C>T (p.Pro1137Leu) rs1225931762
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3498G>C (p.Glu1166Asp) rs546323484
NM_000540.3(RYR1):c.3505A>G (p.Met1169Val) rs139069946
NM_000540.3(RYR1):c.3556G>A (p.Gly1186Ser) rs1568465251
NM_000540.3(RYR1):c.3658G>A (p.Glu1220Lys) rs757687986
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu) rs1363931971
NM_000540.3(RYR1):c.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.3(RYR1):c.3820C>G (p.Arg1274Gly) rs1425575552
NM_000540.3(RYR1):c.3823A>G (p.Thr1275Ala) rs1568469574
NM_000540.3(RYR1):c.3946C>T (p.Pro1316Ser) rs200894780
NM_000540.3(RYR1):c.4054G>A (p.Ala1352Thr)
NM_000540.3(RYR1):c.4066G>A (p.Ala1356Thr) rs933347966
NM_000540.3(RYR1):c.4090G>T (p.Gly1364Trp) rs35869497
NM_000540.3(RYR1):c.4160+8G>T rs886054383
NM_000540.3(RYR1):c.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4322G>T (p.Gly1441Val) rs1968805897
NM_000540.3(RYR1):c.4342T>C (p.Trp1448Arg) rs886054386
NM_000540.3(RYR1):c.4366T>C (p.Tyr1456His) rs2145502626
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala) rs767928113
NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)
NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly)
NM_000540.3(RYR1):c.4592A>G (p.Asn1531Ser) rs1968860939
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser) rs118192161
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.3(RYR1):c.5055C>G (p.Cys1685Trp) rs761393058
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser) rs1568484483
NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)
NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) rs377476955
NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu) rs1335007839
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
NM_000540.3(RYR1):c.5504A>C (p.Glu1835Ala)
NM_000540.3(RYR1):c.5525T>C (p.Leu1842Pro) rs886054390
NM_000540.3(RYR1):c.5584A>C (p.Ile1862Leu) rs886054391
NM_000540.3(RYR1):c.5607G>T (p.Glu1869Asp) rs1043076830
NM_000540.3(RYR1):c.5620G>A (p.Glu1874Lys) rs1969440508
NM_000540.3(RYR1):c.5910G>A (p.Gln1970=) rs1555780327
NM_000540.3(RYR1):c.5G>C (p.Gly2Ala) rs886054378
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.6082C>G (p.Arg2028Gly) rs773540275
NM_000540.3(RYR1):c.6128-13T>G rs1969594703
NM_000540.3(RYR1):c.6262G>A (p.Glu2088Lys) rs587784378
NM_000540.3(RYR1):c.6272C>A (p.Pro2091His) rs1555781055
NM_000540.3(RYR1):c.6284A>C (p.Gln2095Pro) rs1369035565
NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.6304G>T (p.Val2102Leu) rs770593660
NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro) rs201649680
NM_000540.3(RYR1):c.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.6599C>G (p.Ala2200Gly) rs193922791
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.663C>T (p.Leu221=) rs761319979
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys) rs772803714
NM_000540.3(RYR1):c.6799A>G (p.Met2267Val) rs886054393
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg) rs765088913
NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=) rs748167551
NM_000540.3(RYR1):c.7136C>A (p.Ala2379Asp) rs886054394
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly) rs368013861
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)
NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)
NM_000540.3(RYR1):c.7679C>T (p.Pro2560Leu)
NM_000540.3(RYR1):c.7684A>G (p.Ile2562Val) rs1359576805
NM_000540.3(RYR1):c.76A>C (p.Thr26Pro) rs1972635177
NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys) rs1970183094
NM_000540.3(RYR1):c.7729A>G (p.Ile2577Val) rs567321458
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7787C>G (p.Thr2596Ser) rs193922824
NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly) rs770719689
NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)
NM_000540.3(RYR1):c.7836-3C>T rs1345584460
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7841T>G (p.Ile2614Ser)
NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)
NM_000540.3(RYR1):c.7874G>T (p.Arg2625Leu) rs751301767
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly) rs747337318
NM_000540.3(RYR1):c.7888G>C (p.Val2630Leu) rs193922825
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.7992C>G (p.Phe2664Leu) rs150620191
NM_000540.3(RYR1):c.8042G>C (p.Gly2681Ala) rs1970341837
NM_000540.3(RYR1):c.8068-3C>G
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp) rs1970371040
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del) rs767722812
NM_000540.3(RYR1):c.8546A>G (p.Tyr2849Cys) rs1970446266
NM_000540.3(RYR1):c.8557G>A (p.Glu2853Lys)
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg) rs201292282
NM_000540.3(RYR1):c.8662C>T (p.Arg2888Trp) rs1234488220
NM_000540.3(RYR1):c.874C>T (p.Leu292Phe) rs1966901541
NM_000540.3(RYR1):c.8773G>A (p.Glu2925Lys) rs2145638522
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp) rs759514075
NM_000540.3(RYR1):c.8901G>A (p.Met2967Ile) rs1970544424
NM_000540.3(RYR1):c.9001-15C>A rs372702492
NM_000540.3(RYR1):c.9007C>G (p.Leu3003Val) rs1970687243
NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe) rs1970687243
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9257A>T (p.Glu3086Val)
NM_000540.3(RYR1):c.9277C>T (p.Arg3093Cys) rs1064797039
NM_000540.3(RYR1):c.9356G>A (p.Arg3119His) rs193922833
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu) rs193922833
NM_000540.3(RYR1):c.947G>A (p.Arg316His) rs193922761
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9581T>C (p.Leu3194Pro) rs1970955432
NM_000540.3(RYR1):c.9603G>A (p.Met3201Ile) rs373611044
NM_000540.3(RYR1):c.9619G>A (p.Glu3207Lys) rs2145677238
NM_000540.3(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=) rs1971019633
NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)
NM_000540.3(RYR1):c.9784C>T (p.Arg3262Cys) rs557030813
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu) rs201588259
NM_000540.3(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_000540.3(RYR1):c.985G>A (p.Asp329Asn) rs1966919745
NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys) rs112151058
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser) rs2145682498
NM_000540.3(RYR1):c.9970G>T (p.Val3324Phe) rs761241693
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.-122G>A rs886054139
NM_001005361.3(DNM2):c.-19G>T rs753599004
NM_001005361.3(DNM2):c.1090C>T (p.Arg364Cys) rs1568304333
NM_001005361.3(DNM2):c.1196+647G>T rs2146025928
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.161G>A (p.Arg54Gln)
NM_001005361.3(DNM2):c.1799T>C (p.Leu600Pro)
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2292-8C>A rs757620658
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del) rs2073289554
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.37G>C (p.Val13Leu)
NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser) rs2068817566
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu) rs1057518858
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001025389.2(AMPD3):c.*1181dup rs765400983
NM_001025389.2(AMPD3):c.*121del rs886047589
NM_001025389.2(AMPD3):c.*1297T>C rs886047592
NM_001025389.2(AMPD3):c.*1381C>T rs1207427717
NM_001025389.2(AMPD3):c.*1672TAAA[1] rs752754496
NM_001025389.2(AMPD3):c.*1681T>C rs551737295
NM_001025389.2(AMPD3):c.*603G>A rs1849717914
NM_001025389.2(AMPD3):c.-48_-43del rs547362583
NM_001025389.2(AMPD3):c.-5-6T>G rs540683532
NM_001025389.2(AMPD3):c.-9G>A rs779381507
NM_001025389.2(AMPD3):c.1135-5C>A rs202231572
NM_001025389.2(AMPD3):c.1135-5C>T rs202231572
NM_001025389.2(AMPD3):c.1135-6C>G rs180912663
NM_001025389.2(AMPD3):c.1276C>T (p.Arg426Trp) rs143114453
NM_001025389.2(AMPD3):c.1317G>T (p.Arg439=) rs370322247
NM_001025389.2(AMPD3):c.1388A>T (p.Tyr463Phe) rs766302802
NM_001025389.2(AMPD3):c.1516A>G (p.Asn506Asp) rs886047588
NM_001025389.2(AMPD3):c.1549C>G (p.Leu517Val) rs1849421091
NM_001025389.2(AMPD3):c.1709A>G (p.Asn570Ser) rs1849538120
NM_001025389.2(AMPD3):c.1891A>C (p.Met631Leu) rs1007093143
NM_001025389.2(AMPD3):c.1982C>T (p.Ser661Phe) rs1849617242
NM_001025389.2(AMPD3):c.2101G>T (p.Val701Leu) rs764421503
NM_001025389.2(AMPD3):c.271C>T (p.Pro91Ser) rs201551496
NM_001025389.2(AMPD3):c.325A>G (p.Thr109Ala) rs774974291
NM_001025389.2(AMPD3):c.353C>T (p.Ser118Phe) rs758624728
NM_001025389.2(AMPD3):c.56T>C (p.Leu19Pro) rs1848271993
NM_001025389.2(AMPD3):c.702C>T (p.Asn234=) rs987924771
NM_001025389.2(AMPD3):c.745C>T (p.Pro249Ser)
NM_001025389.2(AMPD3):c.81A>C (p.Lys27Asn) rs933731212
NM_001025389.2(AMPD3):c.931G>A (p.Val311Met) rs117706710
NM_001025389.2(AMPD3):c.981G>T (p.Lys327Asn) rs555477655
NM_001036.6(RYR3):c.10063C>T (p.Arg3355Trp)
NM_001036.6(RYR3):c.10495C>A (p.Leu3499Met)
NM_001036.6(RYR3):c.11914G>T (p.Asp3972Tyr)
NM_001036.6(RYR3):c.11G>C (p.Gly4Ala) rs375998723
NM_001036.6(RYR3):c.12785C>A (p.Thr4262Asn)
NM_001036.6(RYR3):c.2371A>T (p.Met791Leu)
NM_001036.6(RYR3):c.4006G>C (p.Ala1336Pro)
NM_001036.6(RYR3):c.4298C>G (p.Thr1433Ser)
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.514G>A (p.Asp172Asn)
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042631.3(SDHAF1):c.*248C>T rs552373950
NM_001042631.3(SDHAF1):c.*323C>G rs757546678
NM_001042631.3(SDHAF1):c.*5C>A rs1234271175
NM_001042631.3(SDHAF1):c.*66G>A rs1976659752
NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro) rs1599670818
NM_001042631.3(SDHAF1):c.3G>A (p.Met1Ile) rs1976651034
NM_001042631.3(SDHAF1):c.43T>G (p.Tyr15Asp)
NM_001042631.3(SDHAF1):c.49G>A (p.Asp17Asn) rs538225779
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767
NM_001077525.3(MTMR14):c.1174T>C (p.Phe392Leu) rs2076010767
NM_001077525.3(MTMR14):c.1888G>A (p.Gly630Arg)
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_001080449.3(DNA2):c.1450del (p.Arg484fs) rs2133386949
NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)
NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)
NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly) rs2051684928
NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val) rs2133361857
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001080449.3(DNA2):c.940-1G>A rs1590064469
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
NM_001100.4(ACTA1):c.1000C>G (p.Pro334Ala)
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) rs2102735016
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) rs2102736568
NM_001100.4(ACTA1):c.1052T>C (p.Leu351Pro)
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) rs1659934469
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) rs745494410
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) rs1659984455
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) rs1429699993
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.129+4A>T
NM_001100.4(ACTA1):c.130-11C>A
NM_001100.4(ACTA1):c.130-11_130-10delinsTC
NM_001100.4(ACTA1):c.130-3C>T
NM_001100.4(ACTA1):c.130-5T>A
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys) rs1131691941
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) rs1558082125
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) rs398123562
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.4(ACTA1):c.153G>C (p.Gln51His) rs2102736429
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) rs2102736424
NM_001100.4(ACTA1):c.176A>T (p.Glu59Val)
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) rs2102736399
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) rs1659988389
NM_001100.4(ACTA1):c.210G>A (p.Lys70=)
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
NM_001100.4(ACTA1):c.280_282del (p.Asn94del)
NM_001100.4(ACTA1):c.299C>A (p.Pro100His)
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) rs1659976518
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) rs146508471
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) rs1659975786
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001100.4(ACTA1):c.391G>A (p.Val131Met) rs1273559032
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
NM_001100.4(ACTA1):c.3G>C (p.Met1Ile)
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) rs2102736617
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) rs1553255482
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) rs1659973054
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) rs398123563
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) rs398123564
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) rs2102736155
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.455-11C>A
NM_001100.4(ACTA1):c.455-20TC[2]
NM_001100.4(ACTA1):c.455-7C>A
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) rs587780272
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) rs2102735941
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr) rs1057523333
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) rs2102735869
NM_001100.4(ACTA1):c.616+4C>G rs371799971
NM_001100.4(ACTA1):c.616+4C>T rs371799971
NM_001100.4(ACTA1):c.617-5C>A rs199804338
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr) rs1659986179
NM_001100.4(ACTA1):c.622C>T (p.Arg208Cys)
NM_001100.4(ACTA1):c.627G>C (p.Glu209Asp)
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
NM_001100.4(ACTA1):c.650A>G (p.Lys217Arg)
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) rs1571893107
NM_001100.4(ACTA1):c.661G>T (p.Val221Leu)
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.670G>C (p.Asp224His)
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) rs1057521118
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) rs2102735641
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) rs1571893051
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
NM_001100.4(ACTA1):c.739G>T (p.Gly247Trp)
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) rs1659954634
NM_001100.4(ACTA1):c.745G>T (p.Val249Phe)
NM_001100.4(ACTA1):c.74G>A (p.Gly25Glu)
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) rs2102735572
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) rs2102735536
NM_001100.4(ACTA1):c.802T>G (p.Phe268Val)
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
NM_001100.4(ACTA1):c.808+3G>A rs549268481
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.809-19_809-18insA rs1659946693
NM_001100.4(ACTA1):c.809-9G>A
NM_001100.4(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu) rs1553255533
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) rs546670743
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) rs2102736585
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) rs1659943773
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
NM_001100.4(ACTA1):c.887A>G (p.Tyr296Cys)
NM_001100.4(ACTA1):c.890C>T (p.Ala297Val)
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) rs533868659
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) rs2102735242
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) rs2102735230
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.937G>C (p.Asp313His)
NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) rs1659940726
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) rs1571892527
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
NM_001100.4(ACTA1):c.970C>A (p.Pro324Thr)
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) rs1659939983
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
NM_001100.4(ACTA1):c.990+3G>T
NM_001100.4(ACTA1):c.991-2A>G
NM_001101362.3(KBTBD13):c.*1306T>G rs541447859
NM_001101362.3(KBTBD13):c.*1323A>T rs992471402
NM_001101362.3(KBTBD13):c.*1514T>C rs189406063
NM_001101362.3(KBTBD13):c.*33C>T rs886051336
NM_001101362.3(KBTBD13):c.*71C>T rs886051337
NM_001101362.3(KBTBD13):c.*846G>C rs17804968
NM_001101362.3(KBTBD13):c.-20_265del (p.Met1_Gln89del) rs2086974277
NM_001101362.3(KBTBD13):c.1001C>A (p.Ala334Asp)
NM_001101362.3(KBTBD13):c.1001C>T (p.Ala334Val) rs200804273
NM_001101362.3(KBTBD13):c.1003G>A (p.Glu335Lys)
NM_001101362.3(KBTBD13):c.1005_1006delinsAA (p.Leu336Met) rs2140545326
NM_001101362.3(KBTBD13):c.1006C>A (p.Leu336Met) rs1131691634
NM_001101362.3(KBTBD13):c.1006C>G (p.Leu336Val) rs1131691634
NM_001101362.3(KBTBD13):c.100G>A (p.Gly34Ser)
NM_001101362.3(KBTBD13):c.1012C>T (p.Arg338Cys)
NM_001101362.3(KBTBD13):c.1019A>C (p.Gln340Pro)
NM_001101362.3(KBTBD13):c.1020G>C (p.Gln340His)
NM_001101362.3(KBTBD13):c.1025A>G (p.Tyr342Cys)
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101362.3(KBTBD13):c.1034G>C (p.Cys345Ser)
NM_001101362.3(KBTBD13):c.103C>T (p.Leu35Phe)
NM_001101362.3(KBTBD13):c.1044C>G (p.Ala348=)
NM_001101362.3(KBTBD13):c.1048C>G (p.Arg350Gly) rs779744493
NM_001101362.3(KBTBD13):c.1048C>T (p.Arg350Cys)
NM_001101362.3(KBTBD13):c.1066G>C (p.Val356Leu)
NM_001101362.3(KBTBD13):c.1069C>T (p.Arg357Cys)
NM_001101362.3(KBTBD13):c.1075G>A (p.Gly359Arg)
NM_001101362.3(KBTBD13):c.1089C>T (p.Asp363=)
NM_001101362.3(KBTBD13):c.1101C>T (p.Cys367=) rs543844534
NM_001101362.3(KBTBD13):c.1108G>C (p.Asp370His) rs779342567
NM_001101362.3(KBTBD13):c.110_111delinsAG (p.Arg37Gln)
NM_001101362.3(KBTBD13):c.110_112dup (p.Arg37_Ser38insCys)
NM_001101362.3(KBTBD13):c.1139C>T (p.Thr380Met) rs769627742
NM_001101362.3(KBTBD13):c.113C>G (p.Ser38Cys)
NM_001101362.3(KBTBD13):c.1150G>A (p.Gly384Ser)
NM_001101362.3(KBTBD13):c.1158C>G (p.Phe386Leu)
NM_001101362.3(KBTBD13):c.115G>T (p.Gly39Cys) rs201420126
NM_001101362.3(KBTBD13):c.1166G>A (p.Ser389Asn)
NM_001101362.3(KBTBD13):c.1171G>A (p.Gly391Arg)
NM_001101362.3(KBTBD13):c.1175C>T (p.Ala392Val) rs1296754906
NM_001101362.3(KBTBD13):c.1183A>C (p.Thr395Pro) rs2087005220
NM_001101362.3(KBTBD13):c.1184C>G (p.Thr395Arg) rs758995387
NM_001101362.3(KBTBD13):c.1187C>T (p.Ala396Val)
NM_001101362.3(KBTBD13):c.118A>G (p.Met40Val) rs1479237002
NM_001101362.3(KBTBD13):c.1196G>A (p.Arg399His)
NM_001101362.3(KBTBD13):c.1209C>G (p.Val403=)
NM_001101362.3(KBTBD13):c.1222dup (p.Arg408fs)
NM_001101362.3(KBTBD13):c.1240T>C (p.Tyr414His) rs1555407759
NM_001101362.3(KBTBD13):c.1249G>C (p.Glu417Gln)
NM_001101362.3(KBTBD13):c.1250A>T (p.Glu417Val)
NM_001101362.3(KBTBD13):c.1269G>A (p.Leu423=)
NM_001101362.3(KBTBD13):c.1274G>C (p.Arg425Thr)
NM_001101362.3(KBTBD13):c.1292C>T (p.Pro431Leu)
NM_001101362.3(KBTBD13):c.1297C>T (p.Pro433Ser) rs1555407773
NM_001101362.3(KBTBD13):c.1304C>T (p.Ser435Phe)
NM_001101362.3(KBTBD13):c.1307T>A (p.Leu436Ter) rs2140546093
NM_001101362.3(KBTBD13):c.1310A>G (p.Gln437Arg)
NM_001101362.3(KBTBD13):c.1318C>T (p.Leu440Phe)
NM_001101362.3(KBTBD13):c.1322T>A (p.Leu441Gln)
NM_001101362.3(KBTBD13):c.1334C>A (p.Pro445His) rs192406963
NM_001101362.3(KBTBD13):c.1338C>T (p.Gly446=)
NM_001101362.3(KBTBD13):c.1356T>G (p.Thr452=)
NM_001101362.3(KBTBD13):c.1358C>G (p.Ser453Trp)
NM_001101362.3(KBTBD13):c.1361C>T (p.Thr454Ile)
NM_001101362.3(KBTBD13):c.1366del (p.Ala456fs)
NM_001101362.3(KBTBD13):c.136G>C (p.Ala46Pro)
NM_001101362.3(KBTBD13):c.1373T>C (p.Leu458Pro) rs2140546272
NM_001101362.3(KBTBD13):c.139G>A (p.Glu47Lys)
NM_001101362.3(KBTBD13):c.13C>G (p.Pro5Ala) rs2086975088
NM_001101362.3(KBTBD13):c.140A>G (p.Glu47Gly)
NM_001101362.3(KBTBD13):c.143T>C (p.Val48Ala)
NM_001101362.3(KBTBD13):c.145C>T (p.Arg49Cys)
NM_001101362.3(KBTBD13):c.146G>C (p.Arg49Pro)
NM_001101362.3(KBTBD13):c.146G>T (p.Arg49Leu) rs1027726798
NM_001101362.3(KBTBD13):c.152G>C (p.Gly51Ala)
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.164C>T (p.Ala55Val) rs757684085
NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)
NM_001101362.3(KBTBD13):c.170del (p.Gly57fs) rs1555407559
NM_001101362.3(KBTBD13):c.174C>A (p.Phe58Leu)
NM_001101362.3(KBTBD13):c.175C>G (p.Arg59Gly)
NM_001101362.3(KBTBD13):c.175C>T (p.Arg59Cys) rs1406748219
NM_001101362.3(KBTBD13):c.176G>A (p.Arg59His)
NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)
NM_001101362.3(KBTBD13):c.178G>C (p.Ala60Pro)
NM_001101362.3(KBTBD13):c.179C>A (p.Ala60Asp)
NM_001101362.3(KBTBD13):c.182C>T (p.Thr61Met)
NM_001101362.3(KBTBD13):c.191T>G (p.Val64Gly)
NM_001101362.3(KBTBD13):c.194T>C (p.Leu65Pro)
NM_001101362.3(KBTBD13):c.195G>A (p.Leu65=)
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.199G>A (p.Gly67Ser)
NM_001101362.3(KBTBD13):c.19A>C (p.Thr7Pro)
NM_001101362.3(KBTBD13):c.204C>T (p.Asp68=)
NM_001101362.3(KBTBD13):c.205C>G (p.Arg69Gly)
NM_001101362.3(KBTBD13):c.206G>C (p.Arg69Pro)
NM_001101362.3(KBTBD13):c.209C>G (p.Pro70Arg) rs766269932
NM_001101362.3(KBTBD13):c.209C>T (p.Pro70Leu) rs766269932
NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)
NM_001101362.3(KBTBD13):c.212C>G (p.Ala71Gly)
NM_001101362.3(KBTBD13):c.217G>A (p.Ala73Thr) rs1313295854
NM_001101362.3(KBTBD13):c.218C>A (p.Ala73Glu)
NM_001101362.3(KBTBD13):c.221C>G (p.Ala74Gly)
NM_001101362.3(KBTBD13):c.223del (p.Glu75fs)
NM_001101362.3(KBTBD13):c.225G>C (p.Glu75Asp)
NM_001101362.3(KBTBD13):c.226G>A (p.Asp76Asn) rs1258831129
NM_001101362.3(KBTBD13):c.229G>C (p.Glu77Gln)
NM_001101362.3(KBTBD13):c.229G>T (p.Glu77Ter)
NM_001101362.3(KBTBD13):c.229_271dup (p.Pro91fs) rs1401828622
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.23T>C (p.Leu8Pro)
NM_001101362.3(KBTBD13):c.23T>G (p.Leu8Arg)
NM_001101362.3(KBTBD13):c.241_242insTCGTGGAGTGCGCCGCCTTCCTCCAGGCGCCGGCGCTGGCGGCGGAGGACGAGCTGCTGCAGG (p.Gln80_Ala81insValValGluCysAlaAlaPheLeuGlnAlaProAlaLeuAlaAlaGluAspGluLeuLeuGln)
NM_001101362.3(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.3(KBTBD13):c.245T>A (p.Val82Glu)
NM_001101362.3(KBTBD13):c.247G>T (p.Glu83Ter) rs781438362
NM_001101362.3(KBTBD13):c.253G>A (p.Ala85Thr) rs1595912432
NM_001101362.3(KBTBD13):c.257C>A (p.Ala86Asp)
NM_001101362.3(KBTBD13):c.25G>T (p.Val9Leu)
NM_001101362.3(KBTBD13):c.261C>A (p.Phe87Leu)
NM_001101362.3(KBTBD13):c.263T>A (p.Leu88His)
NM_001101362.3(KBTBD13):c.269C>T (p.Ala90Val)
NM_001101362.3(KBTBD13):c.272_286dup (p.Arg95_Phe96insSerAlaLeuAlaArg)
NM_001101362.3(KBTBD13):c.27G>A (p.Val9=)
NM_001101362.3(KBTBD13):c.283C>T (p.Arg95Cys)
NM_001101362.3(KBTBD13):c.291G>C (p.Leu97=)
NM_001101362.3(KBTBD13):c.292G>A (p.Glu98Lys) rs752222694
NM_001101362.3(KBTBD13):c.292G>C (p.Glu98Gln)
NM_001101362.3(KBTBD13):c.292G>T (p.Glu98Ter)
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101362.3(KBTBD13):c.314A>T (p.Asn105Ile) rs2086983386
NM_001101362.3(KBTBD13):c.31G>A (p.Val11Met)
NM_001101362.3(KBTBD13):c.320C>G (p.Ala107Gly) rs1264692363
NM_001101362.3(KBTBD13):c.325_327dup (p.Leu109_Cys110insLeu)
NM_001101362.3(KBTBD13):c.331G>C (p.Asp111His)
NM_001101362.3(KBTBD13):c.331G>T (p.Asp111Tyr)
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.340G>C (p.Ala114Pro) rs1344068633
NM_001101362.3(KBTBD13):c.348C>A (p.Phe116Leu) rs1222501717
NM_001101362.3(KBTBD13):c.34T>G (p.Trp12Gly)
NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)
NM_001101362.3(KBTBD13):c.350_351delinsCA (p.Gly117Ala) rs2086984445
NM_001101362.3(KBTBD13):c.355C>G (p.Arg119Gly) rs1222805926
NM_001101362.3(KBTBD13):c.35G>A (p.Trp12Ter)
NM_001101362.3(KBTBD13):c.360C>G (p.Asp120Glu)
NM_001101362.3(KBTBD13):c.374C>G (p.Ala125Gly) rs575149903
NM_001101362.3(KBTBD13):c.381_382dup (p.Phe128fs)
NM_001101362.3(KBTBD13):c.387C>G (p.Ile129Met) rs1246047806
NM_001101362.3(KBTBD13):c.389G>C (p.Cys130Ser) rs1316788781
NM_001101362.3(KBTBD13):c.391G>C (p.Asp131His)
NM_001101362.3(KBTBD13):c.392A>C (p.Asp131Ala)
NM_001101362.3(KBTBD13):c.396C>T (p.Gly132=)
NM_001101362.3(KBTBD13):c.397G>A (p.Glu133Lys) rs192935606
NM_001101362.3(KBTBD13):c.400C>G (p.Arg134Gly)
NM_001101362.3(KBTBD13):c.405G>C (p.Glu135Asp) rs2086986320
NM_001101362.3(KBTBD13):c.40G>A (p.Gly14Ser)
NM_001101362.3(KBTBD13):c.412_423dup (p.Ala138_Ala141dup) rs2086986389
NM_001101362.3(KBTBD13):c.415G>A (p.Glu139Lys) rs1244821047
NM_001101362.3(KBTBD13):c.423G>A (p.Ala141=)
NM_001101362.3(KBTBD13):c.424C>A (p.Leu142Met) rs1476921965
NM_001101362.3(KBTBD13):c.432G>C (p.Glu144Asp)
NM_001101362.3(KBTBD13):c.434C>A (p.Ala145Asp)
NM_001101362.3(KBTBD13):c.436C>G (p.Arg146Gly)
NM_001101362.3(KBTBD13):c.437G>C (p.Arg146Pro)
NM_001101362.3(KBTBD13):c.439G>A (p.Ala147Thr)
NM_001101362.3(KBTBD13):c.442T>C (p.Tyr148His)
NM_001101362.3(KBTBD13):c.444C>G (p.Tyr148Ter)
NM_001101362.3(KBTBD13):c.449C>T (p.Ala150Val)
NM_001101362.3(KBTBD13):c.454C>T (p.Leu152=)
NM_001101362.3(KBTBD13):c.455_462dup (p.Ser155fs)
NM_001101362.3(KBTBD13):c.470A>T (p.Tyr157Phe) rs1481116487
NM_001101362.3(KBTBD13):c.471C>G (p.Tyr157Ter) rs550724858
NM_001101362.3(KBTBD13):c.472G>A (p.Ala158Thr)
NM_001101362.3(KBTBD13):c.473_474del (p.Ala158fs)
NM_001101362.3(KBTBD13):c.475G>A (p.Ala159Thr) rs2140544169
NM_001101362.3(KBTBD13):c.475_478dup (p.Val160fs)
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.3(KBTBD13):c.481A>T (p.Ser161Cys)
NM_001101362.3(KBTBD13):c.484A>G (p.Thr162Ala)
NM_001101362.3(KBTBD13):c.485C>A (p.Thr162Lys) rs1269389678
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.512A>C (p.Glu171Ala)
NM_001101362.3(KBTBD13):c.521C>G (p.Ser174Trp) rs772025364
NM_001101362.3(KBTBD13):c.521C>T (p.Ser174Leu) rs772025364
NM_001101362.3(KBTBD13):c.524G>C (p.Arg175Pro) rs1226640143
NM_001101362.3(KBTBD13):c.527C>T (p.Thr176Met)
NM_001101362.3(KBTBD13):c.531G>A (p.Leu177=)
NM_001101362.3(KBTBD13):c.537C>G (p.Tyr179Ter) rs1465166108
NM_001101362.3(KBTBD13):c.541G>T (p.Asp181Tyr)
NM_001101362.3(KBTBD13):c.544G>T (p.Glu182Ter) rs952061379
NM_001101362.3(KBTBD13):c.552G>C (p.Glu184Asp) rs1595912705
NM_001101362.3(KBTBD13):c.555C>T (p.Asp185=)
NM_001101362.3(KBTBD13):c.556G>C (p.Ala186Pro)
NM_001101362.3(KBTBD13):c.556G>T (p.Ala186Ser)
NM_001101362.3(KBTBD13):c.563G>A (p.Arg188His)
NM_001101362.3(KBTBD13):c.571G>C (p.Ala191Pro) rs2086990576
NM_001101362.3(KBTBD13):c.572C>G (p.Ala191Gly) rs1014978095
NM_001101362.3(KBTBD13):c.575_585del (p.Ala192fs)
NM_001101362.3(KBTBD13):c.580C>T (p.Pro194Ser)
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.589G>A (p.Ala197Thr)
NM_001101362.3(KBTBD13):c.592A>G (p.Ser198Gly)
NM_001101362.3(KBTBD13):c.594C>G (p.Ser198Arg) rs1365801743
NM_001101362.3(KBTBD13):c.607G>A (p.Gly203Arg) rs944113571
NM_001101362.3(KBTBD13):c.607_615del (p.Gly203_Ala205del) rs1595912738
NM_001101362.3(KBTBD13):c.610G>A (p.Val204Met)
NM_001101362.3(KBTBD13):c.614C>T (p.Ala205Val)
NM_001101362.3(KBTBD13):c.623G>A (p.Gly208Asp) rs1198118426
NM_001101362.3(KBTBD13):c.624C>T (p.Gly208=)
NM_001101362.3(KBTBD13):c.625A>T (p.Asn209Tyr)
NM_001101362.3(KBTBD13):c.626A>G (p.Asn209Ser) rs1039913863
NM_001101362.3(KBTBD13):c.627C>T (p.Asn209=)
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.640G>A (p.Val214Met)
NM_001101362.3(KBTBD13):c.644G>A (p.Gly215Glu)
NM_001101362.3(KBTBD13):c.653G>A (p.Arg218His)
NM_001101362.3(KBTBD13):c.656G>C (p.Gly219Ala)
NM_001101362.3(KBTBD13):c.65G>T (p.Arg22Leu)
NM_001101362.3(KBTBD13):c.675dup (p.Glu226fs)
NM_001101362.3(KBTBD13):c.697C>A (p.Pro233Thr)
NM_001101362.3(KBTBD13):c.700G>A (p.Asp234Asn)
NM_001101362.3(KBTBD13):c.702C>G (p.Asp234Glu) rs761192296
NM_001101362.3(KBTBD13):c.703G>A (p.Gly235Ser) rs1278649126
NM_001101362.3(KBTBD13):c.705_711del (p.Trp238fs)
NM_001101362.3(KBTBD13):c.706G>A (p.Gly236Ser)
NM_001101362.3(KBTBD13):c.711G>C (p.Thr237=)
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001101362.3(KBTBD13):c.71T>G (p.Leu24Arg)
NM_001101362.3(KBTBD13):c.730C>T (p.Pro244Ser)
NM_001101362.3(KBTBD13):c.738G>A (p.Gln246=)
NM_001101362.3(KBTBD13):c.740C>G (p.Pro247Arg)
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.746A>G (p.Tyr249Cys)
NM_001101362.3(KBTBD13):c.751A>C (p.Thr251Pro)
NM_001101362.3(KBTBD13):c.752_753del (p.Thr251fs) rs770027984
NM_001101362.3(KBTBD13):c.75_76delinsCT (p.Val26Leu) rs2140543014
NM_001101362.3(KBTBD13):c.766T>G (p.Phe256Val)
NM_001101362.3(KBTBD13):c.768C>A (p.Phe256Leu)
NM_001101362.3(KBTBD13):c.769G>A (p.Asp257Asn) rs568675071
NM_001101362.3(KBTBD13):c.76G>A (p.Val26Met) rs775846405
NM_001101362.3(KBTBD13):c.782A>G (p.Tyr261Cys) rs958756775
NM_001101362.3(KBTBD13):c.784G>A (p.Ala262Thr)
NM_001101362.3(KBTBD13):c.797_798delinsTG (p.Glu266Val)
NM_001101362.3(KBTBD13):c.815T>G (p.Ile272Ser)
NM_001101362.3(KBTBD13):c.81G>A (p.Glu27=)
NM_001101362.3(KBTBD13):c.822C>G (p.Ser274=)
NM_001101362.3(KBTBD13):c.823G>C (p.Val275Leu) rs1566960251
NM_001101362.3(KBTBD13):c.829C>G (p.Arg277Gly) rs754708028
NM_001101362.3(KBTBD13):c.83A>G (p.His28Arg)
NM_001101362.3(KBTBD13):c.842C>T (p.Ala281Val) rs1171797812
NM_001101362.3(KBTBD13):c.843C>T (p.Ala281=)
NM_001101362.3(KBTBD13):c.847G>A (p.Gly283Ser) rs770737413
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) rs2140545005
NM_001101362.3(KBTBD13):c.84C>T (p.His28=)
NM_001101362.3(KBTBD13):c.861C>G (p.Phe287Leu) rs777259450
NM_001101362.3(KBTBD13):c.862G>A (p.Val288Met)
NM_001101362.3(KBTBD13):c.86del (p.Cys29fs) rs1191393272
NM_001101362.3(KBTBD13):c.877_878delinsAG (p.Gln293Arg)
NM_001101362.3(KBTBD13):c.886G>A (p.Ala296Thr)
NM_001101362.3(KBTBD13):c.887C>T (p.Ala296Val) rs1469851032
NM_001101362.3(KBTBD13):c.888del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.890del (p.Gly297fs)
NM_001101362.3(KBTBD13):c.924C>T (p.Phe308=) rs886051335
NM_001101362.3(KBTBD13):c.925G>C (p.Val309Leu) rs532324778
NM_001101362.3(KBTBD13):c.938G>T (p.Arg313Leu) rs1399367095
NM_001101362.3(KBTBD13):c.939_940delinsAT (p.Pro314Ser) rs2086999390
NM_001101362.3(KBTBD13):c.946G>A (p.Asp316Asn) rs2140545192
NM_001101362.3(KBTBD13):c.949del (p.Thr317fs) rs2140545202
NM_001101362.3(KBTBD13):c.958G>C (p.Val320Leu)
NM_001101362.3(KBTBD13):c.965_975del (p.Glu322fs) rs2087000027
NM_001101362.3(KBTBD13):c.970G>A (p.Ala324Thr) rs1216341966
NM_001101362.3(KBTBD13):c.975G>A (p.Val325=)
NM_001101362.3(KBTBD13):c.977G>C (p.Arg326Pro) rs779729198
NM_001101362.3(KBTBD13):c.97C>G (p.Arg33Gly)
NM_001101362.3(KBTBD13):c.97C>T (p.Arg33Ter)
NM_001101362.3(KBTBD13):c.985G>T (p.Ala329Ser) rs1158844505
NM_001101362.3(KBTBD13):c.988T>A (p.Trp330Arg)
NM_001101362.3(KBTBD13):c.98G>A (p.Arg33Gln) rs200548009
NM_001101362.3(KBTBD13):c.990G>C (p.Trp330Cys) rs1064797021
NM_001103.4(ACTN2):c.*286T>C rs190536248
NM_001103.4(ACTN2):c.*979C>A rs181615071
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly) rs1234368540
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro) rs1572137003
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln) rs764031568
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys) rs1659393136
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu) rs773915011
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala) rs200631005
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val) rs377650301
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly) rs1010571438
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.21C>T (p.Gly7=) rs1387972965
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys) rs770335717
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu) rs397516577
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro) rs863224691
NM_001103.4(ACTN2):c.307G>A (p.Ala103Thr)
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp) rs141793230
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys) rs1572132678
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
NM_001135254.2(PAX7):c.1402+91T>G rs2089708295
NM_001135254.2(PAX7):c.398T>C (p.Ile133Thr) rs1427053032
NM_001135254.2(PAX7):c.739C>T (p.Arg247Cys)
NM_001151.4(SLC25A4):c.*1378A>G rs868358526
NM_001151.4(SLC25A4):c.*2150G>T rs894890311
NM_001151.4(SLC25A4):c.*2363G>A rs753110221
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*2499G>T rs1579212062
NM_001151.4(SLC25A4):c.*2510T>C rs1579212069
NM_001151.4(SLC25A4):c.*2713G>A rs886059275
NM_001151.4(SLC25A4):c.*2720G>A rs559222593
NM_001151.4(SLC25A4):c.*2802C>T rs1031240359
NM_001151.4(SLC25A4):c.*424A>G rs886059269
NM_001151.4(SLC25A4):c.*482G>C rs1734462158
NM_001151.4(SLC25A4):c.*571T>G rs370688019
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.448G>A (p.Ala150Thr)
NM_001151.4(SLC25A4):c.47G>A (p.Gly16Asp)
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) rs886059266
NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) rs755597294
NM_001151.4(SLC25A4):c.787A>G (p.Lys263Glu)
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys) rs2148376111
NM_001159699.2(FHL1):c.704A>T (p.Lys235Met)
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001164507.2(NEB):c.21316A>G (p.Lys7106Glu) rs2092606329
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu) rs199934793
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001164508.2(NEB):c.*316C>T rs2049611427
NM_001164508.2(NEB):c.10007T>C (p.Leu3336Pro) rs1392434296
NM_001164508.2(NEB):c.10012G>A (p.Val3338Met) rs534475193
NM_001164508.2(NEB):c.10015G>T (p.Val3339Leu)
NM_001164508.2(NEB):c.10021G>T (p.Ala3341Ser) rs1574279999
NM_001164508.2(NEB):c.10036A>G (p.Thr3346Ala) rs2098550963
NM_001164508.2(NEB):c.10048G>A (p.Asp3350Asn) rs377180119
NM_001164508.2(NEB):c.1004T>A (p.Met335Lys)
NM_001164508.2(NEB):c.10056C>G (p.Asp3352Glu)
NM_001164508.2(NEB):c.10058A>G (p.Tyr3353Cys)
NM_001164508.2(NEB):c.10061A>G (p.Lys3354Arg)
NM_001164508.2(NEB):c.10080G>T (p.Trp3360Cys) rs1574278301
NM_001164508.2(NEB):c.10087C>A (p.Leu3363Met) rs2098550303
NM_001164508.2(NEB):c.10143+5G>C rs1158552388
NM_001164508.2(NEB):c.10143+9T>G
NM_001164508.2(NEB):c.10144-10_10144-9delinsG rs1553928417
NM_001164508.2(NEB):c.10154A>T (p.Lys3385Ile)
NM_001164508.2(NEB):c.1015del (p.Ala339fs) rs2150017687
NM_001164508.2(NEB):c.1016C>T (p.Ala339Val)
NM_001164508.2(NEB):c.10211T>G (p.Val3404Gly) rs2154058359
NM_001164508.2(NEB):c.10213G>T (p.Val3405Phe) rs1553927988
NM_001164508.2(NEB):c.10217A>G (p.Lys3406Arg) rs1574259964
NM_001164508.2(NEB):c.10228G>A (p.Ala3410Thr) rs1298375132
NM_001164508.2(NEB):c.10231G>T (p.Ala3411Ser) rs727504034
NM_001164508.2(NEB):c.10259G>A (p.Arg3420His)
NM_001164508.2(NEB):c.10289G>A (p.Ser3430Asn) rs1370385550
NM_001164508.2(NEB):c.10303C>G (p.Leu3435Val) rs768451216
NM_001164508.2(NEB):c.10316T>C (p.Leu3439Pro) rs2154058008
NM_001164508.2(NEB):c.1031G>A (p.Ser344Asn) rs1224318643
NM_001164508.2(NEB):c.10326C>G (p.Asn3442Lys)
NM_001164508.2(NEB):c.10347+3G>A rs1226603362
NM_001164508.2(NEB):c.10347G>A (p.Lys3449=) rs1051033510
NM_001164508.2(NEB):c.10349G>A (p.Arg3450His)
NM_001164508.2(NEB):c.1035+6A>G rs1577251081
NM_001164508.2(NEB):c.10358C>A (p.Thr3453Lys) rs781408732
NM_001164508.2(NEB):c.10369G>A (p.Asp3457Asn) rs1319060772
NM_001164508.2(NEB):c.10373A>C (p.Lys3458Thr)
NM_001164508.2(NEB):c.10381A>G (p.Thr3461Ala)
NM_001164508.2(NEB):c.10393A>G (p.Ile3465Val) rs535926481
NM_001164508.2(NEB):c.10419G>T (p.Met3473Ile) rs368842783
NM_001164508.2(NEB):c.10423G>T (p.Ala3475Ser) rs2098506984
NM_001164508.2(NEB):c.10433A>G (p.Asn3478Ser) rs1246003078
NM_001164508.2(NEB):c.10447A>G (p.Ser3483Gly)
NM_001164508.2(NEB):c.10452+3A>G rs2154051876
NM_001164508.2(NEB):c.10453A>T (p.Ser3485Cys) rs2154027931
NM_001164508.2(NEB):c.10462C>T (p.Arg3488Cys) rs765175171
NM_001164508.2(NEB):c.10519C>T (p.Pro3507Ser)
NM_001164508.2(NEB):c.10537G>A (p.Ala3513Thr) rs1560541262
NM_001164508.2(NEB):c.10555A>C (p.Ser3519Arg)
NM_001164508.2(NEB):c.10560+4A>G
NM_001164508.2(NEB):c.10599C>A (p.His3533Gln)
NM_001164508.2(NEB):c.10603A>T (p.Ile3535Phe)
NM_001164508.2(NEB):c.10613G>T (p.Arg3538Leu)
NM_001164508.2(NEB):c.10624G>A (p.Asp3542Asn) rs777939660
NM_001164508.2(NEB):c.10624G>C (p.Asp3542His)
NM_001164508.2(NEB):c.1063A>G (p.Asn355Asp)
NM_001164508.2(NEB):c.10654A>T (p.Ile3552Phe)
NM_001164508.2(NEB):c.10657G>T (p.Ala3553Ser) rs1372803594
NM_001164508.2(NEB):c.10660A>G (p.Lys3554Glu) rs1553912139
NM_001164508.2(NEB):c.10687A>G (p.Lys3563Glu)
NM_001164508.2(NEB):c.10706A>G (p.Lys3569Arg) rs371572709
NM_001164508.2(NEB):c.10709C>T (p.Thr3570Ile)
NM_001164508.2(NEB):c.1070G>A (p.Gly357Glu) rs1221725692
NM_001164508.2(NEB):c.10712G>A (p.Arg3571Lys) rs761487598
NM_001164508.2(NEB):c.1074A>G (p.Lys358=) rs2099709094
NM_001164508.2(NEB):c.10783G>A (p.Asp3595Asn)
NM_001164508.2(NEB):c.10792C>T (p.His3598Tyr)
NM_001164508.2(NEB):c.107CAA[1] (p.Thr37del) rs1553698850
NM_001164508.2(NEB):c.10802A>C (p.His3601Pro)
NM_001164508.2(NEB):c.10807T>C (p.Trp3603Arg)
NM_001164508.2(NEB):c.10809_10810delinsCG (p.Trp3603_Ile3604delinsCysVal) rs1573936944
NM_001164508.2(NEB):c.10817T>C (p.Leu3606Pro)
NM_001164508.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001164508.2(NEB):c.10819C>A (p.Pro3607Thr) rs2098331597
NM_001164508.2(NEB):c.10822G>A (p.Asp3608Asn)
NM_001164508.2(NEB):c.10833CAT[1] (p.Ile3613del) rs773748212
NM_001164508.2(NEB):c.10855T>C (p.Tyr3619His)
NM_001164508.2(NEB):c.10861C>G (p.Leu3621Val) rs1573934764
NM_001164508.2(NEB):c.10870G>A (p.Asp3624Asn)
NM_001164508.2(NEB):c.10872+4A>G
NM_001164508.2(NEB):c.10872C>A (p.Asp3624Glu) rs781328083
NM_001164508.2(NEB):c.10880A>G (p.Tyr3627Cys) rs573537251
NM_001164508.2(NEB):c.10884G>T (p.Lys3628Asn) rs2154017407
NM_001164508.2(NEB):c.10913G>C (p.Gly3638Ala)
NM_001164508.2(NEB):c.10955G>A (p.Arg3652Lys) rs1553908653
NM_001164508.2(NEB):c.10957G>A (p.Ala3653Thr)
NM_001164508.2(NEB):c.10972A>G (p.Ser3658Gly) rs2154016610
NM_001164508.2(NEB):c.10982T>C (p.Ile3661Thr) rs886940194
NM_001164508.2(NEB):c.11022A>G (p.Ile3674Met)
NM_001164508.2(NEB):c.11032C>G (p.Pro3678Ala) rs879255369
NM_001164508.2(NEB):c.11054A>G (p.Asn3685Ser)
NM_001164508.2(NEB):c.11068A>G (p.Met3690Val)
NM_001164508.2(NEB):c.1106A>G (p.Asn369Ser) rs2099709000
NM_001164508.2(NEB):c.11077-18_11077-17insTCTCTC
NM_001164508.2(NEB):c.11119C>T (p.His3707Tyr)
NM_001164508.2(NEB):c.11132A>T (p.Asp3711Val)
NM_001164508.2(NEB):c.11147T>C (p.Met3716Thr) rs2098235987
NM_001164508.2(NEB):c.11164C>A (p.Arg3722=) rs928945364
NM_001164508.2(NEB):c.11164C>G (p.Arg3722Gly)
NM_001164508.2(NEB):c.11173T>C (p.Tyr3725His)
NM_001164508.2(NEB):c.11177G>A (p.Ser3726Asn)
NM_001164508.2(NEB):c.11207A>T (p.Glu3736Val)
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
NM_001164508.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001164508.2(NEB):c.1121A>G (p.Gln374Arg)
NM_001164508.2(NEB):c.11234G>A (p.Arg3745His)
NM_001164508.2(NEB):c.11239G>T (p.Asp3747Tyr)
NM_001164508.2(NEB):c.11248C>T (p.Pro3750Ser)
NM_001164508.2(NEB):c.11249C>A (p.Pro3750Gln) rs2098183275
NM_001164508.2(NEB):c.11253C>G (p.Ile3751Met)
NM_001164508.2(NEB):c.11288A>G (p.Asp3763Gly)
NM_001164508.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001164508.2(NEB):c.11312G>T (p.Arg3771Leu) rs374486286
NM_001164508.2(NEB):c.11324G>A (p.Gly3775Asp)
NM_001164508.2(NEB):c.11339C>A (p.Ala3780Asp)
NM_001164508.2(NEB):c.11342G>A (p.Arg3781Gln)
NM_001164508.2(NEB):c.11360C>G (p.Pro3787Arg)
NM_001164508.2(NEB):c.11360C>T (p.Pro3787Leu)
NM_001164508.2(NEB):c.11367G>T (p.Met3789Ile) rs1256861153
NM_001164508.2(NEB):c.11371T>C (p.Trp3791Arg) rs2098127092
NM_001164508.2(NEB):c.11403C>G (p.Asp3801Glu)
NM_001164508.2(NEB):c.11417A>G (p.Lys3806Arg) rs2098126289
NM_001164508.2(NEB):c.11440A>G (p.Lys3814Glu) rs1553897365
NM_001164508.2(NEB):c.11441A>G (p.Lys3814Arg)
NM_001164508.2(NEB):c.11450G>A (p.Ser3817Asn) rs776337697
NM_001164508.2(NEB):c.11459A>T (p.Asp3820Val) rs1008059245
NM_001164508.2(NEB):c.11461A>T (p.Met3821Leu) rs1057524782
NM_001164508.2(NEB):c.11467G>C (p.Gly3823Arg) rs1489953672
NM_001164508.2(NEB):c.11468G>C (p.Gly3823Ala)
NM_001164508.2(NEB):c.11479G>A (p.Ala3827Thr) rs1404351594
NM_001164508.2(NEB):c.11498T>C (p.Leu3833Pro) rs2098124760
NM_001164508.2(NEB):c.11515T>C (p.Tyr3839His)
NM_001164508.2(NEB):c.11516A>G (p.Tyr3839Cys)
NM_001164508.2(NEB):c.1152+6T>C
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile) rs542092706
NM_001164508.2(NEB):c.11581G>A (p.Ala3861Thr)
NM_001164508.2(NEB):c.11585A>G (p.Tyr3862Cys)
NM_001164508.2(NEB):c.11601+5G>A
NM_001164508.2(NEB):c.11602-13A>T rs886054941
NM_001164508.2(NEB):c.11612A>C (p.Lys3871Thr)
NM_001164508.2(NEB):c.11612A>T (p.Lys3871Ile)
NM_001164508.2(NEB):c.11615C>G (p.Ser3872Cys) rs886054940
NM_001164508.2(NEB):c.11621T>C (p.Leu3874Pro) rs1131691534
NM_001164508.2(NEB):c.1162A>G (p.Lys388Glu) rs1159204491
NM_001164508.2(NEB):c.11636G>A (p.Gly3879Asp) rs199766288
NM_001164508.2(NEB):c.11654T>A (p.Ile3885Asn) rs1367960856
NM_001164508.2(NEB):c.11668G>T (p.Val3890Phe)
NM_001164508.2(NEB):c.11686G>C (p.Ala3896Pro)
NM_001164508.2(NEB):c.11690G>A (p.Gly3897Glu) rs777129630
NM_001164508.2(NEB):c.1169A>G (p.Asn390Ser)
NM_001164508.2(NEB):c.11708G>A (p.Arg3903Lys) rs2098010006
NM_001164508.2(NEB):c.11730C>G (p.Asp3910Glu)
NM_001164508.2(NEB):c.11755G>A (p.Asp3919Asn) rs201483656
NM_001164508.2(NEB):c.11755G>T (p.Asp3919Tyr) rs201483656
NM_001164508.2(NEB):c.11756A>G (p.Asp3919Gly) rs2098007899
NM_001164508.2(NEB):c.11826G>C (p.Trp3942Cys) rs759613419
NM_001164508.2(NEB):c.11836A>G (p.Lys3946Glu)
NM_001164508.2(NEB):c.11873T>C (p.Ile3958Thr)
NM_001164508.2(NEB):c.11889T>A (p.Ser3963Arg) rs773708904
NM_001164508.2(NEB):c.11890A>G (p.Asn3964Asp)
NM_001164508.2(NEB):c.11891A>T (p.Asn3964Ile) rs1560398552
NM_001164508.2(NEB):c.11902A>G (p.Ile3968Val)
NM_001164508.2(NEB):c.11910+3A>G rs2097920067
NM_001164508.2(NEB):c.11911-12T>G rs2153974946
NM_001164508.2(NEB):c.11911A>G (p.Lys3971Glu) rs762228870
NM_001164508.2(NEB):c.11932G>T (p.Asp3978Tyr) rs2097912400
NM_001164508.2(NEB):c.11948A>G (p.Lys3983Arg)
NM_001164508.2(NEB):c.11949_11957dup (p.Tyr3985_Asp3986insGluAspTyr) rs753048510
NM_001164508.2(NEB):c.11977T>C (p.Ser3993Pro) rs2153974640
NM_001164508.2(NEB):c.11980A>G (p.Ile3994Val) rs751650751
NM_001164508.2(NEB):c.12010G>C (p.Ala4004Pro)
NM_001164508.2(NEB):c.12013A>T (p.Ser4005Cys)
NM_001164508.2(NEB):c.12018+8C>G rs2097909628
NM_001164508.2(NEB):c.12018C>T (p.Asp4006=)
NM_001164508.2(NEB):c.12020A>C (p.Tyr4007Ser) rs758528247
NM_001164508.2(NEB):c.12020A>G (p.Tyr4007Cys) rs758528247
NM_001164508.2(NEB):c.12041A>G (p.Glu4014Gly) rs2153972362
NM_001164508.2(NEB):c.1204T>G (p.Cys402Gly)
NM_001164508.2(NEB):c.12072G>T (p.Gln4024His)
NM_001164508.2(NEB):c.12080A>G (p.Glu4027Gly) rs1188050770
NM_001164508.2(NEB):c.12082G>A (p.Asp4028Asn) rs2153972179
NM_001164508.2(NEB):c.1209G>T (p.Glu403Asp) rs1576715880
NM_001164508.2(NEB):c.12100T>A (p.Cys4034Ser) rs973939120
NM_001164508.2(NEB):c.12103G>A (p.Ala4035Thr) rs2097889020
NM_001164508.2(NEB):c.12137A>G (p.Glu4046Gly)
NM_001164508.2(NEB):c.12151T>C (p.Phe4051Leu)
NM_001164508.2(NEB):c.12158A>C (p.Lys4053Thr)
NM_001164508.2(NEB):c.12185T>C (p.Val4062Ala)
NM_001164508.2(NEB):c.12206T>C (p.Leu4069Pro)
NM_001164508.2(NEB):c.12218G>A (p.Cys4073Tyr)
NM_001164508.2(NEB):c.12218G>C (p.Cys4073Ser) rs1316221324
NM_001164508.2(NEB):c.12221A>T (p.Gln4074Leu) rs1257852959
NM_001164508.2(NEB):c.12244T>C (p.Tyr4082His)
NM_001164508.2(NEB):c.12251A>G (p.Asn4084Ser) rs761668198
NM_001164508.2(NEB):c.12260A>G (p.His4087Arg) rs199683595
NM_001164508.2(NEB):c.12262G>C (p.Glu4088Gln)
NM_001164508.2(NEB):c.12274A>G (p.Met4092Val)
NM_001164508.2(NEB):c.12275T>G (p.Met4092Arg)
NM_001164508.2(NEB):c.12278C>G (p.Pro4093Arg) rs749270501
NM_001164508.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001164508.2(NEB):c.12288C>A (p.Asn4096Lys) rs755521679
NM_001164508.2(NEB):c.12297C>G (p.Ile4099Met) rs1442726188
NM_001164508.2(NEB):c.1229A>C (p.Asp410Ala) rs1576715183
NM_001164508.2(NEB):c.12304A>C (p.Lys4102Gln) rs2153971169
NM_001164508.2(NEB):c.12309G>C (p.Lys4103Asn)
NM_001164508.2(NEB):c.12310G>A (p.Ala4104Thr)
NM_001164508.2(NEB):c.12311C>T (p.Ala4104Val)
NM_001164508.2(NEB):c.12312C>G (p.Ala4104=)
NM_001164508.2(NEB):c.12314A>G (p.Tyr4105Cys)
NM_001164508.2(NEB):c.1231A>T (p.Thr411Ser) rs2099605512
NM_001164508.2(NEB):c.12326G>C (p.Ser4109Thr)
NM_001164508.2(NEB):c.12362G>A (p.Arg4121His) rs1310133597
NM_001164508.2(NEB):c.12369C>G (p.Ile4123Met) rs1277282343
NM_001164508.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001164508.2(NEB):c.12370G>A (p.Gly4124Ser) rs1227592399
NM_001164508.2(NEB):c.12382G>A (p.Glu4128Lys) rs1553877949
NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys) rs2153960539
NM_001164508.2(NEB):c.12395A>G (p.Glu4132Gly) rs1553877904
NM_001164508.2(NEB):c.12406G>A (p.Val4136Met) rs1553877868
NM_001164508.2(NEB):c.12407T>G (p.Val4136Gly) rs1553877860
NM_001164508.2(NEB):c.12413T>G (p.Val4138Gly) rs1553877811
NM_001164508.2(NEB):c.12443A>G (p.Tyr4148Cys) rs1553877721
NM_001164508.2(NEB):c.12490C>T (p.Pro4164Ser) rs1553877565
NM_001164508.2(NEB):c.12529A>T (p.Ser4177Cys) rs1553877493
NM_001164508.2(NEB):c.12534+3A>C
NM_001164508.2(NEB):c.12534+3A>G rs2097772131
NM_001164508.2(NEB):c.12535-10C>T rs2097760296
NM_001164508.2(NEB):c.12535-3C>T rs2153958050
NM_001164508.2(NEB):c.12550G>A (p.Ala4184Thr) rs1553877049
NM_001164508.2(NEB):c.1257+3A>G
NM_001164508.2(NEB):c.12601A>T (p.Met4201Leu) rs1553876833
NM_001164508.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001164508.2(NEB):c.12638A>G (p.Asn4213Ser) rs2097758270
NM_001164508.2(NEB):c.12639+4A>G
NM_001164508.2(NEB):c.12662A>G (p.Asn4221Ser) rs1553875590
NM_001164508.2(NEB):c.1267A>G (p.Lys423Glu) rs2099604411
NM_001164508.2(NEB):c.12686A>G (p.Asp4229Gly) rs1553875409
NM_001164508.2(NEB):c.12718G>T (p.Ala4240Ser) rs561736266
NM_001164508.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001164508.2(NEB):c.1273T>G (p.Ser425Ala) rs1270235018
NM_001164508.2(NEB):c.12747+5G>A rs1251007091
NM_001164508.2(NEB):c.12784C>T (p.His4262Tyr) rs2097628697
NM_001164508.2(NEB):c.127G>C (p.Glu43Gln) rs1578040162
NM_001164508.2(NEB):c.12800G>A (p.Arg4267His) rs1049044616
NM_001164508.2(NEB):c.12808C>A (p.Gln4270Lys) rs1057524648
NM_001164508.2(NEB):c.12832G>T (p.Ala4278Ser) rs1578941825
NM_001164508.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001164508.2(NEB):c.128A>C (p.Glu43Ala) rs752660824
NM_001164508.2(NEB):c.12902A>T (p.His4301Leu) rs1553872062
NM_001164508.2(NEB):c.12911C>T (p.Pro4304Leu) rs1456001729
NM_001164508.2(NEB):c.12922A>G (p.Met4308Val) rs1553871982
NM_001164508.2(NEB):c.12977G>A (p.Arg4326His) rs1429486273
NM_001164508.2(NEB):c.12998C>A (p.Thr4333Lys) rs1319674362
NM_001164508.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001164508.2(NEB):c.129G>T (p.Glu43Asp) rs1290183134
NM_001164508.2(NEB):c.1303G>T (p.Val435Leu) rs763255052
NM_001164508.2(NEB):c.13052A>G (p.Gln4351Arg) rs1553871396
NM_001164508.2(NEB):c.13056C>A (p.Ser4352Arg) rs1468240932
NM_001164508.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001164508.2(NEB):c.13059+5G>A
NM_001164508.2(NEB):c.1310G>A (p.Ser437Asn) rs1466400136
NM_001164508.2(NEB):c.1314C>G (p.Phe438Leu) rs765769921
NM_001164508.2(NEB):c.1315G>C (p.Glu439Gln)
NM_001164508.2(NEB):c.1316A>G (p.Glu439Gly) rs1553608272
NM_001164508.2(NEB):c.13218C>A (p.Thr4406=) rs1553867144
NM_001164508.2(NEB):c.13236A>G (p.Ala4412=) rs1578890458
NM_001164508.2(NEB):c.13263+4A>G rs2097566924
NM_001164508.2(NEB):c.13263+8C>T rs1553866957
NM_001164508.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001164508.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001164508.2(NEB):c.1333C>T (p.His445Tyr) rs771832822
NM_001164508.2(NEB):c.13349_13353delinsGTGCT (p.Asn4450Ser) rs1553865895
NM_001164508.2(NEB):c.13367A>G (p.Asn4456Ser) rs2097549978
NM_001164508.2(NEB):c.13368+6A>G rs886038433
NM_001164508.2(NEB):c.13369-14CT[2] rs1553865749
NM_001164508.2(NEB):c.13370A>C (p.Lys4457Thr) rs1057521174
NM_001164508.2(NEB):c.13406C>T (p.Thr4469Ile) rs1192545815
NM_001164508.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001164508.2(NEB):c.13457C>T (p.Ser4486Phe) rs2097548401
NM_001164508.2(NEB):c.13460G>T (p.Arg4487Met) rs1553865625
NM_001164508.2(NEB):c.13465A>C (p.Ile4489Leu) rs1553865611
NM_001164508.2(NEB):c.13466T>C (p.Ile4489Thr) rs1433188091
NM_001164508.2(NEB):c.13475_13476delinsTT (p.Asp4492Val) rs1553865579
NM_001164508.2(NEB):c.13476+6A>C
NM_001164508.2(NEB):c.13477-7C>T rs1328191142
NM_001164508.2(NEB):c.13520T>C (p.Ile4507Thr) rs1553862732
NM_001164508.2(NEB):c.13593G>C (p.Arg4531Ser) rs2097451987
NM_001164508.2(NEB):c.13615G>A (p.Asp4539Asn) rs1578802735
NM_001164508.2(NEB):c.13651G>A (p.Val4551Met) rs1553862399
NM_001164508.2(NEB):c.13651G>C (p.Val4551Leu) rs1553862399
NM_001164508.2(NEB):c.1366-17A>G
NM_001164508.2(NEB):c.1366-3T>C
NM_001164508.2(NEB):c.13670A>G (p.Lys4557Arg)
NM_001164508.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001164508.2(NEB):c.13706G>A (p.Arg4569His) rs1216367965
NM_001164508.2(NEB):c.13717C>T (p.His4573Tyr) rs1553862206
NM_001164508.2(NEB):c.13719_13721delinsTCG (p.His4574Arg) rs2153902861
NM_001164508.2(NEB):c.1372T>C (p.Tyr458His) rs2149353691
NM_001164508.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001164508.2(NEB):c.13754T>C (p.Ile4585Thr) rs1553862132
NM_001164508.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001164508.2(NEB):c.13788+2dup rs2153902530
NM_001164508.2(NEB):c.1396A>G (p.Arg466Gly)
NM_001164508.2(NEB):c.1404A>G (p.Lys468=) rs2099602836
NM_001164508.2(NEB):c.1405G>T (p.Gly469Cys)
NM_001164508.2(NEB):c.1406G>C (p.Gly469Ala)
NM_001164508.2(NEB):c.1419G>T (p.Gln473His) rs761722604
NM_001164508.2(NEB):c.1434A>G (p.Glu478=) rs2149351968
NM_001164508.2(NEB):c.1435T>C (p.Tyr479His)
NM_001164508.2(NEB):c.1444A>G (p.Ile482Val) rs945055152
NM_001164508.2(NEB):c.1461G>T (p.Gln487His)
NM_001164508.2(NEB):c.1462T>A (p.Cys488Ser) rs749228422
NM_001164508.2(NEB):c.1471-3C>T
NM_001164508.2(NEB):c.1531C>G (p.Leu511Val)
NM_001164508.2(NEB):c.1535T>A (p.Leu512Gln) rs2099599001
NM_001164508.2(NEB):c.153_167del (p.52LAQPA[1]) rs757726895
NM_001164508.2(NEB):c.1545A>C (p.Gln515His)
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[3] (p.52LAQPA[3]) rs377452683
NM_001164508.2(NEB):c.155T>G (p.Leu52Arg)
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.1569+3A>T rs1576671314
NM_001164508.2(NEB):c.1580A>G (p.Lys527Arg) rs773132178
NM_001164508.2(NEB):c.1618C>G (p.Pro540Ala) rs1271816542
NM_001164508.2(NEB):c.1624G>T (p.Asp542Tyr)
NM_001164508.2(NEB):c.1654A>G (p.Asn552Asp) rs2099590400
NM_001164508.2(NEB):c.16704+1G>A rs1227806763
NM_001164508.2(NEB):c.16708C>T (p.Leu5570Phe)
NM_001164508.2(NEB):c.16725G>T (p.Leu5575Phe) rs2153808846
NM_001164508.2(NEB):c.16736G>A (p.Arg5579His)
NM_001164508.2(NEB):c.16739G>T (p.Gly5580Val)
NM_001164508.2(NEB):c.1674+3A>C rs2099590253
NM_001164508.2(NEB):c.16765C>T (p.Pro5589Ser) rs1490534583
NM_001164508.2(NEB):c.16780G>A (p.Val5594Ile)
NM_001164508.2(NEB):c.16789G>A (p.Ala5597Thr) rs749713442
NM_001164508.2(NEB):c.16789G>T (p.Ala5597Ser) rs749713442
NM_001164508.2(NEB):c.16792C>A (p.Gln5598Lys)
NM_001164508.2(NEB):c.16837C>G (p.Leu5613Val)
NM_001164508.2(NEB):c.1684A>G (p.Lys562Glu)
NM_001164508.2(NEB):c.16908+3_16908+6del
NM_001164508.2(NEB):c.16932C>A (p.Asp5644Glu)
NM_001164508.2(NEB):c.16934A>G (p.Lys5645Arg) rs2096805812
NM_001164508.2(NEB):c.16949T>C (p.Ile5650Thr) rs202009284
NM_001164508.2(NEB):c.1696G>A (p.Glu566Lys)
NM_001164508.2(NEB):c.16991C>A (p.Ala5664Glu)
NM_001164508.2(NEB):c.16994A>C (p.Asn5665Thr) rs2153806253
NM_001164508.2(NEB):c.17009G>T (p.Ser5670Ile)
NM_001164508.2(NEB):c.1700A>T (p.Lys567Met) rs1360278350
NM_001164508.2(NEB):c.17012A>G (p.Asn5671Ser) rs1390168520
NM_001164508.2(NEB):c.17018T>G (p.Leu5673Arg) rs2096589517
NM_001164508.2(NEB):c.17023C>G (p.Arg5675Gly) rs547231033
NM_001164508.2(NEB):c.17038G>A (p.Glu5680Lys)
NM_001164508.2(NEB):c.17047G>A (p.Ala5683Thr)
NM_001164508.2(NEB):c.17054G>C (p.Cys5685Ser)
NM_001164508.2(NEB):c.17063G>T (p.Arg5688Leu)
NM_001164508.2(NEB):c.17069A>G (p.Asp5690Gly)
NM_001164508.2(NEB):c.17078C>T (p.Pro5693Leu) rs2096588016
NM_001164508.2(NEB):c.17087C>A (p.Ala5696Asp)
NM_001164508.2(NEB):c.17118C>A (p.Asp5706Glu) rs769476760
NM_001164508.2(NEB):c.17119-21_17119-5del rs2153759284
NM_001164508.2(NEB):c.17173A>C (p.Thr5725Pro) rs2096580140
NM_001164508.2(NEB):c.17180G>C (p.Arg5727Thr) rs533494950
NM_001164508.2(NEB):c.17183A>G (p.Asp5728Gly) rs756098317
NM_001164508.2(NEB):c.17188A>G (p.Asn5730Asp)
NM_001164508.2(NEB):c.17189A>G (p.Asn5730Ser)
NM_001164508.2(NEB):c.17198G>A (p.Arg5733His) rs371681892
NM_001164508.2(NEB):c.17198G>T (p.Arg5733Leu) rs371681892
NM_001164508.2(NEB):c.17228A>G (p.Asn5743Ser) rs1022255644
NM_001164508.2(NEB):c.17234G>A (p.Arg5745Gln) rs773556106
NM_001164508.2(NEB):c.1724T>C (p.Ile575Thr)
NM_001164508.2(NEB):c.17251T>G (p.Trp5751Gly) rs2096578090
NM_001164508.2(NEB):c.17258A>G (p.Lys5753Arg) rs2153754800
NM_001164508.2(NEB):c.17277G>C (p.Gln5759His)
NM_001164508.2(NEB):c.17281C>G (p.Pro5761Ala) rs2153753928
NM_001164508.2(NEB):c.17297C>T (p.Ser5766Phe) rs745836611
NM_001164508.2(NEB):c.1729G>A (p.Val577Met) rs1419317928
NM_001164508.2(NEB):c.17333G>A (p.Ser5778Asn) rs2153752911
NM_001164508.2(NEB):c.17341G>C (p.Asp5781His) rs897368602
NM_001164508.2(NEB):c.17341G>T (p.Asp5781Tyr)
NM_001164508.2(NEB):c.17348G>A (p.Arg5783His)
NM_001164508.2(NEB):c.17367G>C (p.Trp5789Cys)
NM_001164508.2(NEB):c.17373C>T (p.Cys5791=)
NM_001164508.2(NEB):c.17377C>T (p.Pro5793Ser)
NM_001164508.2(NEB):c.17396T>C (p.Ile5799Thr) rs1262861131
NM_001164508.2(NEB):c.17404AAG[1] (p.Lys5803del) rs1553787578
NM_001164508.2(NEB):c.17408A>C (p.Lys5803Thr)
NM_001164508.2(NEB):c.1741C>T (p.Pro581Ser)
NM_001164508.2(NEB):c.17452G>C (p.Glu5818Gln) rs1193153766
NM_001164508.2(NEB):c.17468T>C (p.Ile5823Thr) rs768866431
NM_001164508.2(NEB):c.17479C>T (p.Pro5827Ser) rs1560050173
NM_001164508.2(NEB):c.17491G>A (p.Val5831Met) rs772168965
NM_001164508.2(NEB):c.17498T>C (p.Val5833Ala)
NM_001164508.2(NEB):c.1750G>T (p.Ala584Ser)
NM_001164508.2(NEB):c.17535+3A>G rs1553784210
NM_001164508.2(NEB):c.17536-3T>C
NM_001164508.2(NEB):c.17543A>G (p.Tyr5848Cys) rs1577949283
NM_001164508.2(NEB):c.17546G>T (p.Arg5849Leu)
NM_001164508.2(NEB):c.1754C>T (p.Ala585Val) rs2099581852
NM_001164508.2(NEB):c.1756A>G (p.Lys586Glu) rs1576598655
NM_001164508.2(NEB):c.175C>G (p.Gln59Glu) rs867732907
NM_001164508.2(NEB):c.17608A>C (p.Lys5870Gln)
NM_001164508.2(NEB):c.17619C>T (p.Gly5873=) rs767518298
NM_001164508.2(NEB):c.17627T>C (p.Leu5876Pro) rs1181510782
NM_001164508.2(NEB):c.17629G>T (p.Asp5877Tyr)
NM_001164508.2(NEB):c.1763A>G (p.Asn588Ser) rs2099581808
NM_001164508.2(NEB):c.17647A>C (p.Lys5883Gln)
NM_001164508.2(NEB):c.17648A>G (p.Lys5883Arg)
NM_001164508.2(NEB):c.17678C>A (p.Thr5893Asn)
NM_001164508.2(NEB):c.17681T>A (p.Leu5894His) rs201072996
NM_001164508.2(NEB):c.17681T>G (p.Leu5894Arg)
NM_001164508.2(NEB):c.17690C>G (p.Thr5897Ser)
NM_001164508.2(NEB):c.17705C>T (p.Thr5902Ile)
NM_001164508.2(NEB):c.17708C>T (p.Ala5903Val) rs2153745118
NM_001164508.2(NEB):c.17724G>C (p.Arg5908Ser)
NM_001164508.2(NEB):c.17738A>G (p.Tyr5913Cys) rs2096492304
NM_001164508.2(NEB):c.17744A>G (p.Tyr5915Cys)
NM_001164508.2(NEB):c.17789C>T (p.Pro5930Leu)
NM_001164508.2(NEB):c.1778G>A (p.Ser593Asn) rs2099581746
NM_001164508.2(NEB):c.177G>C (p.Gln59His) rs200990309
NM_001164508.2(NEB):c.1780G>A (p.Asp594Asn)
NM_001164508.2(NEB):c.1781A>T (p.Asp594Val)
NM_001164508.2(NEB):c.1782+4_1782+5del rs398124168
NM_001164508.2(NEB):c.1782+5G>A
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
NM_001164508.2(NEB):c.17845-3C>G rs2153740439
NM_001164508.2(NEB):c.17848A>G (p.Lys5950Glu)
NM_001164508.2(NEB):c.17865T>G (p.His5955Gln) rs1394078245
NM_001164508.2(NEB):c.17872C>A (p.Gln5958Lys)
NM_001164508.2(NEB):c.17896C>G (p.Pro5966Ala) rs2096453351
NM_001164508.2(NEB):c.17903T>A (p.Met5968Lys)
NM_001164508.2(NEB):c.17914C>T (p.Pro5972Ser)
NM_001164508.2(NEB):c.17915C>A (p.Pro5972His) rs4327235
NM_001164508.2(NEB):c.17915C>T (p.Pro5972Leu) rs4327235
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001164508.2(NEB):c.17939C>A (p.Ala5980Glu) rs143582290
NM_001164508.2(NEB):c.17942G>T (p.Gly5981Val)
NM_001164508.2(NEB):c.17948T>G (p.Ile5983Ser)
NM_001164508.2(NEB):c.17965T>A (p.Tyr5989Asn) rs752113075
NM_001164508.2(NEB):c.17980C>G (p.His5994Asp) rs764985237
NM_001164508.2(NEB):c.17999T>A (p.Ile6000Asn)
NM_001164508.2(NEB):c.18008C>G (p.Pro6003Arg) rs2096449520
NM_001164508.2(NEB):c.1800C>A (p.Asp600Glu)
NM_001164508.2(NEB):c.18034G>A (p.Ala6012Thr)
NM_001164508.2(NEB):c.18037A>C (p.Lys6013Gln) rs2096448727
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.1806A>T (p.Glu602Asp)
NM_001164508.2(NEB):c.18070T>G (p.Tyr6024Asp)
NM_001164508.2(NEB):c.18080A>G (p.Tyr6027Cys)
NM_001164508.2(NEB):c.18096G>A (p.Met6032Ile) rs764679933
NM_001164508.2(NEB):c.18106G>C (p.Asp6036His)
NM_001164508.2(NEB):c.1810A>G (p.Asn604Asp)
NM_001164508.2(NEB):c.18110A>G (p.Gln6037Arg)
NM_001164508.2(NEB):c.18122T>C (p.Ile6041Thr) rs2096445948
NM_001164508.2(NEB):c.18127G>A (p.Ala6043Thr) rs1553775860
NM_001164508.2(NEB):c.1812C>A (p.Asn604Lys) rs772151546
NM_001164508.2(NEB):c.18136G>C (p.Ala6046Pro) rs2096445433
NM_001164508.2(NEB):c.18149A>C (p.Gln6050Pro)
NM_001164508.2(NEB):c.18149A>G (p.Gln6050Arg)
NM_001164508.2(NEB):c.18152G>A (p.Ser6051Asn) rs1577885822
NM_001164508.2(NEB):c.18160G>A (p.Val6054Ile) rs975134897
NM_001164508.2(NEB):c.18161T>C (p.Val6054Ala) rs1362288800
NM_001164508.2(NEB):c.18188G>A (p.Arg6063Gln)
NM_001164508.2(NEB):c.18191G>T (p.Gly6064Val)
NM_001164508.2(NEB):c.18194T>C (p.Ile6065Thr)
NM_001164508.2(NEB):c.1824G>A (p.Met608Ile)
NM_001164508.2(NEB):c.18261+19_18261+21del rs1319324645
NM_001164508.2(NEB):c.18261+4C>G rs757739475
NM_001164508.2(NEB):c.18261+4C>T
NM_001164508.2(NEB):c.18261+5G>A rs375167899
NM_001164508.2(NEB):c.18262-3C>T
NM_001164508.2(NEB):c.182C>G (p.Ala61Gly) rs2099795617
NM_001164508.2(NEB):c.18302T>C (p.Phe6101Ser) rs2153729845
NM_001164508.2(NEB):c.18310G>C (p.Val6104Leu) rs1253544291
NM_001164508.2(NEB):c.18310G>T (p.Val6104Leu)
NM_001164508.2(NEB):c.18314T>C (p.Val6105Ala) rs2096324310
NM_001164508.2(NEB):c.18327G>T (p.Glu6109Asp) rs2096323303
NM_001164508.2(NEB):c.18374A>G (p.Tyr6125Cys) rs2096294914
NM_001164508.2(NEB):c.18376A>G (p.Lys6126Glu)
NM_001164508.2(NEB):c.18406T>C (p.Tyr6136His)
NM_001164508.2(NEB):c.18407A>G (p.Tyr6136Cys)
NM_001164508.2(NEB):c.18408T>C (p.Tyr6136=) rs757188494
NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu) rs2153726853
NM_001164508.2(NEB):c.18422A>T (p.Asp6141Val)
NM_001164508.2(NEB):c.18425C>A (p.Thr6142Lys) rs377179553
NM_001164508.2(NEB):c.18436T>C (p.Ser6146Pro) rs1231291915
NM_001164508.2(NEB):c.18496G>A (p.Gly6166Ser) rs1239862833
NM_001164508.2(NEB):c.1849G>A (p.Asp617Asn)
NM_001164508.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001164508.2(NEB):c.18515A>G (p.Tyr6172Cys)
NM_001164508.2(NEB):c.18517A>C (p.Thr6173Pro)
NM_001164508.2(NEB):c.18523G>A (p.Asp6175Asn)
NM_001164508.2(NEB):c.18538C>T (p.Pro6180Ser)
NM_001164508.2(NEB):c.18541A>T (p.Ile6181Phe)
NM_001164508.2(NEB):c.18559G>A (p.Ala6187Thr) rs994460843
NM_001164508.2(NEB):c.18572A>G (p.Asn6191Ser) rs2096236392
NM_001164508.2(NEB):c.18575G>C (p.Ser6192Thr)
NM_001164508.2(NEB):c.18579+11C>T rs567282220
NM_001164508.2(NEB):c.18579+15T>C rs2096234308
NM_001164508.2(NEB):c.18596C>T (p.Thr6199Ile) rs1331648772
NM_001164508.2(NEB):c.18603G>C (p.Glu6201Asp)
NM_001164508.2(NEB):c.18656T>G (p.Val6219Gly) rs753261774
NM_001164508.2(NEB):c.18683T>A (p.Met6228Lys)
NM_001164508.2(NEB):c.18693+5G>C rs377482159
NM_001164508.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001164508.2(NEB):c.18701A>G (p.Tyr6234Cys)
NM_001164508.2(NEB):c.18724A>G (p.Lys6242Glu) rs886054937
NM_001164508.2(NEB):c.1874A>C (p.Lys625Thr)
NM_001164508.2(NEB):c.18751A>G (p.Met6251Val)
NM_001164508.2(NEB):c.18763G>T (p.Val6255Leu) rs781706876
NM_001164508.2(NEB):c.18787A>G (p.Ile6263Val)
NM_001164508.2(NEB):c.18804G>C (p.Glu6268Asp)
NM_001164508.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001164508.2(NEB):c.18814T>C (p.Tyr6272His) rs921387109
NM_001164508.2(NEB):c.18823C>A (p.Gln6275Lys)
NM_001164508.2(NEB):c.1883A>C (p.Lys628Thr) rs1176664285
NM_001164508.2(NEB):c.1883A>G (p.Lys628Arg) rs1176664285
NM_001164508.2(NEB):c.18847C>T (p.Pro6283Ser)
NM_001164508.2(NEB):c.18862G>T (p.Val6288Phe)
NM_001164508.2(NEB):c.18872C>T (p.Ala6291Val)
NM_001164508.2(NEB):c.18893A>G (p.Asn6298Ser) rs781054657
NM_001164508.2(NEB):c.18893A>T (p.Asn6298Ile)
NM_001164508.2(NEB):c.18908A>C (p.Asp6303Ala)
NM_001164508.2(NEB):c.18909C>A (p.Asp6303Glu)
NM_001164508.2(NEB):c.18918G>T (p.Trp6306Cys) rs1559952676
NM_001164508.2(NEB):c.18940G>A (p.Val6314Ile) rs764044045
NM_001164508.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001164508.2(NEB):c.1896+4_1896+5del
NM_001164508.2(NEB):c.18962T>A (p.Leu6321His)
NM_001164508.2(NEB):c.19001A>T (p.Gln6334Leu)
NM_001164508.2(NEB):c.1900T>C (p.Leu634=) rs1576526817
NM_001164508.2(NEB):c.19016G>A (p.Gly6339Asp)
NM_001164508.2(NEB):c.19030C>A (p.Gln6344Lys)
NM_001164508.2(NEB):c.19030C>T (p.Gln6344Ter) rs1559940778
NM_001164508.2(NEB):c.19064A>G (p.Tyr6355Cys) rs968608271
NM_001164508.2(NEB):c.19075G>C (p.Val6359Leu)
NM_001164508.2(NEB):c.19092T>A (p.Asn6364Lys) rs2096022022
NM_001164508.2(NEB):c.19097G>A (p.Ser6366Asn) rs191579691
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.19102G>A (p.Val6368Ile)
NM_001164508.2(NEB):c.19117A>T (p.Asn6373Tyr)
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001164508.2(NEB):c.19144A>G (p.Thr6382Ala)
NM_001164508.2(NEB):c.19162G>A (p.Val6388Met) rs2096008692
NM_001164508.2(NEB):c.1916A>G (p.Tyr639Cys) rs1559315113
NM_001164508.2(NEB):c.19207-20_19207-18del rs768751352
NM_001164508.2(NEB):c.19211T>C (p.Leu6404Pro)
NM_001164508.2(NEB):c.19223C>T (p.Ala6408Val)
NM_001164508.2(NEB):c.19234G>T (p.Val6412Leu) rs2095980616
NM_001164508.2(NEB):c.1925C>A (p.Thr642Lys)
NM_001164508.2(NEB):c.19284C>G (p.His6428Gln) rs201005449
NM_001164508.2(NEB):c.19286C>T (p.Ala6429Val)
NM_001164508.2(NEB):c.19301A>C (p.His6434Pro) rs1577553776
NM_001164508.2(NEB):c.19315-3T>C rs756491764
NM_001164508.2(NEB):c.19337A>G (p.Glu6446Gly) rs2153666324
NM_001164508.2(NEB):c.19357A>G (p.Thr6453Ala) rs968182845
NM_001164508.2(NEB):c.19382_19383delinsTG (p.Asp6461Val)
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001164508.2(NEB):c.19400G>C (p.Cys6467Ser) rs1577306997
NM_001164508.2(NEB):c.19406G>C (p.Arg6469Pro) rs556624010
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.19429C>A (p.Arg6477Ser)
NM_001164508.2(NEB):c.19429C>T (p.Arg6477Cys) rs765181095
NM_001164508.2(NEB):c.19483G>A (p.Asp6495Asn)
NM_001164508.2(NEB):c.1948T>C (p.Cys650Arg)
NM_001164508.2(NEB):c.19495A>G (p.Met6499Val) rs2095482134
NM_001164508.2(NEB):c.19499T>G (p.Val6500Gly)
NM_001164508.2(NEB):c.1949G>A (p.Cys650Tyr)
NM_001164508.2(NEB):c.19518GAA[1] (p.Lys6508del) rs1553736221
NM_001164508.2(NEB):c.19529G>A (p.Ser6510Asn)
NM_001164508.2(NEB):c.1952A>T (p.Glu651Val) rs1553592436
NM_001164508.2(NEB):c.19534A>G (p.Ile6512Val) rs2095480638
NM_001164508.2(NEB):c.19573C>T (p.Pro6525Ser)
NM_001164508.2(NEB):c.19583A>C (p.Gln6528Pro) rs2153660026
NM_001164508.2(NEB):c.19583A>G (p.Gln6528Arg)
NM_001164508.2(NEB):c.19593T>C (p.Asp6531=) rs886054935
NM_001164508.2(NEB):c.19603A>G (p.Lys6535Glu) rs898837153
NM_001164508.2(NEB):c.19624_19625insGTA (p.Asp6542delinsGlyAsn) rs2153659819
NM_001164508.2(NEB):c.19686T>G (p.Thr6562=) rs886054934
NM_001164508.2(NEB):c.19724G>T (p.Arg6575Leu) rs185999504
NM_001164508.2(NEB):c.19728T>A (p.Asp6576Glu)
NM_001164508.2(NEB):c.19729G>A (p.Asp6577Asn) rs2095448833
NM_001164508.2(NEB):c.19736A>G (p.Lys6579Arg)
NM_001164508.2(NEB):c.19739A>G (p.Tyr6580Cys) rs2095414762
NM_001164508.2(NEB):c.19751T>C (p.Met6584Thr) rs190605644
NM_001164508.2(NEB):c.19756A>G (p.Lys6586Glu) rs2153653983
NM_001164508.2(NEB):c.19763G>A (p.Arg6588Lys)
NM_001164508.2(NEB):c.19799A>T (p.Tyr6600Phe) rs2095412773
NM_001164508.2(NEB):c.19814A>G (p.Lys6605Arg) rs2095412206
NM_001164508.2(NEB):c.19826A>T (p.Gln6609Leu) rs1553730155
NM_001164508.2(NEB):c.19836+6T>C rs2153653644
NM_001164508.2(NEB):c.19837-2A>G
NM_001164508.2(NEB):c.19868T>G (p.Val6623Gly)
NM_001164508.2(NEB):c.19903G>T (p.Asp6635Tyr) rs534519331
NM_001164508.2(NEB):c.19912C>T (p.Arg6638Trp) rs771483221
NM_001164508.2(NEB):c.19915G>A (p.Ala6639Thr) rs2095356884
NM_001164508.2(NEB):c.19916C>A (p.Ala6639Asp) rs2153647567
NM_001164508.2(NEB):c.19918C>T (p.Leu6640Phe) rs2095356788
NM_001164508.2(NEB):c.19919T>C (p.Leu6640Pro)
NM_001164508.2(NEB):c.19919T>G (p.Leu6640Arg) rs886054932
NM_001164508.2(NEB):c.19923T>G (p.His6641Gln) rs773870323
NM_001164508.2(NEB):c.19934T>G (p.Leu6645Arg)
NM_001164508.2(NEB):c.19944+6_19944+12del rs2153647219
NM_001164508.2(NEB):c.19945-3C>G rs1206840358
NM_001164508.2(NEB):c.19976C>G (p.Pro6659Arg) rs2153633083
NM_001164508.2(NEB):c.20003C>G (p.Thr6668Ser) rs2153632972
NM_001164508.2(NEB):c.20018A>C (p.His6673Pro) rs763237724
NM_001164508.2(NEB):c.20021_20023del (p.Ile6674del) rs1577105410
NM_001164508.2(NEB):c.20038A>G (p.Met6680Val) rs1265237421
NM_001164508.2(NEB):c.20044A>G (p.Ser6682Gly)
NM_001164508.2(NEB):c.20050-3C>T
NM_001164508.2(NEB):c.20056T>C (p.Tyr6686His) rs2153624429
NM_001164508.2(NEB):c.20104C>T (p.Pro6702Ser)
NM_001164508.2(NEB):c.20108A>G (p.Lys6703Arg)
NM_001164508.2(NEB):c.2011G>C (p.Asp671His)
NM_001164508.2(NEB):c.20122G>A (p.Val6708Ile)
NM_001164508.2(NEB):c.2013C>G (p.Asp671Glu)
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20165A>T (p.Tyr6722Phe) rs2153618365
NM_001164508.2(NEB):c.2017T>C (p.Tyr673His)
NM_001164508.2(NEB):c.20191G>T (p.Asp6731Tyr)
NM_001164508.2(NEB):c.20195A>G (p.Lys6732Arg)
NM_001164508.2(NEB):c.20216C>T (p.Thr6739Ile)
NM_001164508.2(NEB):c.20220T>A (p.Pro6740=)
NM_001164508.2(NEB):c.20241G>T (p.Lys6747Asn) rs2153617719
NM_001164508.2(NEB):c.20302A>G (p.Met6768Val) rs780579848
NM_001164508.2(NEB):c.20308T>C (p.Ser6770Pro)
NM_001164508.2(NEB):c.20315C>T (p.Pro6772Leu) rs1559782362
NM_001164508.2(NEB):c.20323C>T (p.Pro6775Ser)
NM_001164508.2(NEB):c.20327A>G (p.Gln6776Arg) rs1377556613
NM_001164508.2(NEB):c.20351G>C (p.Gly6784Ala)
NM_001164508.2(NEB):c.20359A>G (p.Thr6787Ala) rs1028441065
NM_001164508.2(NEB):c.20367+13T>G
NM_001164508.2(NEB):c.20367+3A>G
NM_001164508.2(NEB):c.20369T>A (p.Ile6790Asn)
NM_001164508.2(NEB):c.20384A>G (p.Asp6795Gly)
NM_001164508.2(NEB):c.20385C>G (p.Asp6795Glu) rs2153608107
NM_001164508.2(NEB):c.2038C>A (p.His680Asn) rs773702715
NM_001164508.2(NEB):c.20401G>A (p.Gly6801Arg)
NM_001164508.2(NEB):c.20407G>A (p.Gly6803Ser)
NM_001164508.2(NEB):c.20437G>T (p.Val6813Phe)
NM_001164508.2(NEB):c.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.20465G>C (p.Trp6822Ser) rs2153607705
NM_001164508.2(NEB):c.20466+5G>C rs2094687409
NM_001164508.2(NEB):c.20467-3A>G rs1463738651
NM_001164508.2(NEB):c.2056G>A (p.Glu686Lys)
NM_001164508.2(NEB):c.20578-6G>A rs376710012
NM_001164508.2(NEB):c.20591C>T (p.Ala6864Val)
NM_001164508.2(NEB):c.20606A>T (p.Gln6869Leu)
NM_001164508.2(NEB):c.2062C>G (p.Pro688Ala) rs750276279
NM_001164508.2(NEB):c.2062C>T (p.Pro688Ser) rs750276279
NM_001164508.2(NEB):c.20653G>T (p.Ala6885Ser) rs1201503713
NM_001164508.2(NEB):c.20670G>C (p.Lys6890Asn) rs768041857
NM_001164508.2(NEB):c.20692G>A (p.Val6898Ile)
NM_001164508.2(NEB):c.20711A>G (p.Glu6904Gly) rs886054930
NM_001164508.2(NEB):c.20719C>T (p.His6907Tyr)
NM_001164508.2(NEB):c.20721T>A (p.His6907Gln) rs2093933909
NM_001164508.2(NEB):c.20721TCA[1] (p.His6909del) rs1553696713
NM_001164508.2(NEB):c.20728G>T (p.Ala6910Ser)
NM_001164508.2(NEB):c.20752A>C (p.Lys6918Gln)
NM_001164508.2(NEB):c.20755C>T (p.His6919Tyr) rs2093931355
NM_001164508.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001164508.2(NEB):c.20765A>T (p.Asp6922Val) rs2093930817
NM_001164508.2(NEB):c.20776A>G (p.Met6926Val) rs1559707924
NM_001164508.2(NEB):c.2080A>C (p.Met694Leu)
NM_001164508.2(NEB):c.20822A>G (p.Asp6941Gly)
NM_001164508.2(NEB):c.20827T>C (p.Tyr6943His)
NM_001164508.2(NEB):c.20851A>G (p.Ile6951Val) rs1168345348
NM_001164508.2(NEB):c.20863G>A (p.Ala6955Thr) rs2153567154
NM_001164508.2(NEB):c.20892T>A (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20892T>G (p.Asp6964Glu) rs1553694845
NM_001164508.2(NEB):c.20894T>A (p.Leu6965Gln) rs1239615497
NM_001164508.2(NEB):c.20906A>T (p.Glu6969Val) rs371680259
NM_001164508.2(NEB):c.20928G>T (p.Gly6976=)
NM_001164508.2(NEB):c.20933A>G (p.Tyr6978Cys) rs761780939
NM_001164508.2(NEB):c.20966A>G (p.Tyr6989Cys)
NM_001164508.2(NEB):c.20968C>T (p.His6990Tyr) rs1383294380
NM_001164508.2(NEB):c.20974A>G (p.Lys6992Glu)
NM_001164508.2(NEB):c.2098A>G (p.Asn700Asp)
NM_001164508.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001164508.2(NEB):c.21021G>A (p.Met7007Ile)
NM_001164508.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001164508.2(NEB):c.21037T>G (p.Trp7013Gly) rs2153551039
NM_001164508.2(NEB):c.21058C>A (p.Pro7020Thr)
NM_001164508.2(NEB):c.2106+3A>C rs1553589058
NM_001164508.2(NEB):c.2107A>G (p.Lys703Glu)
NM_001164508.2(NEB):c.21094G>C (p.Val7032Leu)
NM_001164508.2(NEB):c.21097A>C (p.Ser7033Arg)
NM_001164508.2(NEB):c.21102+5G>A
NM_001164508.2(NEB):c.21102T>C (p.Asp7034=) rs531711771
NM_001164508.2(NEB):c.21115G>C (p.Glu7039Gln)
NM_001164508.2(NEB):c.2111G>A (p.Ser704Asn)
NM_001164508.2(NEB):c.21194C>T (p.Thr7065Ile)
NM_001164508.2(NEB):c.21197T>C (p.Leu7066Pro)
NM_001164508.2(NEB):c.21207+4T>C
NM_001164508.2(NEB):c.21207+6T>C
NM_001164508.2(NEB):c.21212A>C (p.Lys7071Thr)
NM_001164508.2(NEB):c.21212A>G (p.Lys7071Arg) rs2093050726
NM_001164508.2(NEB):c.21221A>G (p.Glu7074Gly) rs1190090108
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys) rs1553587676
NM_001164508.2(NEB):c.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001164508.2(NEB):c.21245A>G (p.Asp7082Gly)
NM_001164508.2(NEB):c.21246T>G (p.Asp7082Glu) rs2153534764
NM_001164508.2(NEB):c.21287A>G (p.Lys7096Arg)
NM_001164508.2(NEB):c.2128G>A (p.Glu710Lys)
NM_001164508.2(NEB):c.21296C>G (p.Thr7099Ser)
NM_001164508.2(NEB):c.21313-795_21313-793del
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro) rs1003798007
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.2136T>G (p.Asp712Glu) rs1359338282
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys) rs1343837039
NM_001164508.2(NEB):c.21417+3A>T
NM_001164508.2(NEB):c.2141G>A (p.Gly714Glu)
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu) rs2153501624
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val) rs2153501601
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu) rs1576490497
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser) rs771050596
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro) rs16830171
NM_001164508.2(NEB):c.214A>G (p.Ile72Val) rs1553698165
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21543CAA[1] (p.Asn7182del) rs758160111
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys) rs149510427
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=) rs2090436424
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn) rs2090430591
NM_001164508.2(NEB):c.2161A>G (p.Thr721Ala)
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile) rs2153475893
NM_001164508.2(NEB):c.2164A>G (p.Ile722Val)
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
NM_001164508.2(NEB):c.21694C>T (p.His7232Tyr)
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys) rs2153463102
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
NM_001164508.2(NEB):c.2182G>A (p.Ala728Thr) rs1187124982
NM_001164508.2(NEB):c.21859C>G (p.Arg7287Gly) rs376072545
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys) rs768693028
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg) rs374819736
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
NM_001164508.2(NEB):c.21946-2del rs1553647715
NM_001164508.2(NEB):c.21973G>A (p.Glu7325Lys) rs747662624
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala) rs751167749
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.22099ACA[1] (p.Thr7368del) rs1553646403
NM_001164508.2(NEB):c.2211+4A>C rs2099553895
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.22114A>T (p.Thr7372Ser) rs750642580
NM_001164508.2(NEB):c.2211T>C (p.Asp737=) rs765620977
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile) rs1195608964
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC rs2153451799
NM_001164508.2(NEB):c.2216C>A (p.Thr739Asn) rs2099542868
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn) rs2085025144
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val) rs2153447751
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp) rs1576243073
NM_001164508.2(NEB):c.22241A>G (p.His7414Arg) rs757621514
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu) rs369642754
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22273-5T>C rs886054929
NM_001164508.2(NEB):c.22273-6_22273-2dup rs758609054
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe) rs752028559
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
NM_001164508.2(NEB):c.2230C>T (p.Pro744Ser)
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile) rs2153439522
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro) rs2084210932
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
NM_001164508.2(NEB):c.22339AAG[1] (p.Lys7448del) rs1553641943
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
NM_001164508.2(NEB):c.2234A>G (p.Asp745Gly) rs1436329266
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu) rs2084197089
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val) rs2153439115
NM_001164508.2(NEB):c.22372G>A (p.Glu7458Lys) rs2084187419
NM_001164508.2(NEB):c.22374+13_22374+33dup rs1553641788
NM_001164508.2(NEB):c.2240C>A (p.Thr747Asn)
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.2243A>G (p.Lys748Arg)
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg) rs2084038575
NM_001164508.2(NEB):c.22479+4A>C
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu) rs780741468
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp) rs2153396290
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22543A>G (p.Ser7515Gly)
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu) rs2080605863
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His) rs2153395893
NM_001164508.2(NEB):c.22590+5G>A
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
NM_001164508.2(NEB):c.2263T>C (p.Ser755Pro)
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del) rs1553629857
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile) rs2080067943
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=) rs778662915
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly) rs749222946
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.2272C>A (p.Leu758Met) rs866369010
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser) rs2153380639
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu) rs1182955893
NM_001164508.2(NEB):c.22905+2dup rs1553623381
NM_001164508.2(NEB):c.22905G>T (p.Gly7635=)
NM_001164508.2(NEB):c.22906-6_22906-2del rs1014710501
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys) rs2153320948
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
NM_001164508.2(NEB):c.23010A>T (p.Ala7670=) rs2076734268
NM_001164508.2(NEB):c.23016+3A>G rs1194138148
NM_001164508.2(NEB):c.23016+4G>A
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
NM_001164508.2(NEB):c.23050C>T (p.Arg7684Cys) rs762019205
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
NM_001164508.2(NEB):c.230A>G (p.Asp77Gly)
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
NM_001164508.2(NEB):c.2310T>C (p.Asp770=)
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys) rs947053462
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val) rs2075994673
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser) rs1179461829
NM_001164508.2(NEB):c.23242-3C>G rs2075506324
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val) rs767590150
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr) rs2075487458
NM_001164508.2(NEB):c.23315A>G (p.His7772Arg) rs776379234
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr) rs1553614160
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly) rs745794892
NM_001164508.2(NEB):c.23346+2dup rs2153272570
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23378_23380del (p.Met7793_Ser7794delinsThr) rs1553603652
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile) rs780379101
NM_001164508.2(NEB):c.23452-14C>G
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
NM_001164508.2(NEB):c.2348A>G (p.Lys783Arg) rs2099519230
NM_001164508.2(NEB):c.23497GTT[1] (p.Val7834del) rs1553601408
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser) rs184516994
NM_001164508.2(NEB):c.2353C>A (p.His785Asn) rs2099519209
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val) rs1454960791
NM_001164508.2(NEB):c.23638_23640del (p.His7880del) rs1553598770
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp) rs202191938
NM_001164508.2(NEB):c.2368_2370dup (p.Ala790dup) rs2148990366
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu) rs758478063
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val) rs1322894219
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
NM_001164508.2(NEB):c.23835+20A>G rs2066191302
NM_001164508.2(NEB):c.23848_23850del (p.Glu7950del) rs1553576655
NM_001164508.2(NEB):c.2384A>G (p.Gln795Arg)
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr) rs933996254
NM_001164508.2(NEB):c.23872_23874dup (p.Thr7958dup) rs764993333
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
NM_001164508.2(NEB):c.2390G>T (p.Arg797Ile)
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr) rs2065743787
NM_001164508.2(NEB):c.23929-12_23929-11del
NM_001164508.2(NEB):c.23929-1_23930dup rs1427250696
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.23929-7CA[2] rs1217738625
NM_001164508.2(NEB):c.23937C>G (p.Tyr7979Ter) rs779173742
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe) rs2153073370
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn) rs1189932875
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
NM_001164508.2(NEB):c.23AGG[1] (p.Glu9del) rs1553711235
NM_001164508.2(NEB):c.24003_24006del (p.Asn8001fs) rs1553568447
NM_001164508.2(NEB):c.24012_24014dup (p.Phe8005dup) rs1553568381
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24017G>C (p.Ser8006Thr)
NM_001164508.2(NEB):c.24022-10T>G
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His) rs555681348
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg) rs2153021543
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24115-151C>A rs1575076895
NM_001164508.2(NEB):c.2415+2dup rs1553567814
NM_001164508.2(NEB):c.2415+6T>C rs760614044
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr) rs2061739053
NM_001164508.2(NEB):c.24207+12_24207+16dup rs1559228786
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.2432A>T (p.Asp811Val) rs896028175
NM_001164508.2(NEB):c.24331dup (p.Thr8111fs)
NM_001164508.2(NEB):c.24332C>A (p.Thr8111Asn)
NM_001164508.2(NEB):c.24332C>T (p.Thr8111Ile)
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup) rs942843328
NM_001164508.2(NEB):c.24375_24377dup (p.Asn8125_Gln8126insHis) rs1372551649
NM_001164508.2(NEB):c.24386_24388dup (p.Ile8129dup) rs767474018
NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr) rs2152954710
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys) rs1385464726
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly) rs763364977
NM_001164508.2(NEB):c.24472_24474del (p.Glu8158del) rs1553544463
NM_001164508.2(NEB):c.24486+10G>A rs755064162
NM_001164508.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
NM_001164508.2(NEB):c.2456A>G (p.Lys819Arg)
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly) rs2152863881
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala) rs1680474922
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala) rs201243201
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys) rs2058061871
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
NM_001164508.2(NEB):c.24706C>G (p.Pro8236Ala)
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu) rs2152851388
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg) rs778196202
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly) rs2152851090
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly) rs2058041442
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
NM_001164508.2(NEB):c.2477C>T (p.Ala826Val)
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu) rs2152828559
NM_001164508.2(NEB):c.2479A>G (p.Ile827Val)
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His) rs2152828148
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
NM_001164508.2(NEB):c.24859C>T (p.Arg8287Trp) rs200804762
NM_001164508.2(NEB):c.2485C>G (p.Leu829Val) rs2099513616
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
NM_001164508.2(NEB):c.24883_24885del (p.His8295del) rs1553527955
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg) rs780925059
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
NM_001164508.2(NEB):c.24919C>A (p.Pro8307Thr) rs886054927
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu) rs1401528056
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile) rs1341580706
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del) rs755822172
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.24983A>G (p.Asn8328Ser)
NM_001164508.2(NEB):c.24989G>A (p.Arg8330Gln)
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala) rs1574651626
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly) rs2057127460
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg) rs2057118708
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile) rs2057112732
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
NM_001164508.2(NEB):c.25150+1G>C
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
NM_001164508.2(NEB):c.25182_25187del (p.Arg8395_Ser8396del) rs1553520388
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu) rs779983347
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly) rs1308512715
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val) rs768811942
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.2523+6T>C rs2099513341
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
NM_001164508.2(NEB):c.25258T>C (p.Ser8420Pro) rs886054925
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
NM_001164508.2(NEB):c.25345_25347del (p.Ser8449del) rs1553519071
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
NM_001164508.2(NEB):c.25390C>A (p.Pro8464Thr) rs376984481
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala) rs2152762849
NM_001164508.2(NEB):c.25405-1G>C rs1553508368
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr) rs1280701887
NM_001164508.2(NEB):c.2542T>C (p.Tyr848His)
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His) rs993833092
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn) rs1574251962
NM_001164508.2(NEB):c.254A>G (p.Tyr85Cys) rs1201662596
NM_001164508.2(NEB):c.25501G>T (p.Glu8501Ter) rs1304300842
NM_001164508.2(NEB):c.25508G>A (p.Trp8503Ter) rs1206080778
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
NM_001164508.2(NEB):c.2552G>A (p.Ser851Asn)
NM_001164508.2(NEB):c.25534G>A (p.Gly8512Ser) rs751394716
NM_001164508.2(NEB):c.25534_25535insTATGCACTGTGCAGAGGACTG (p.Thr8511_Gly8512insValCysThrValGlnArgThr) rs1211056097
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp) rs2152614968
NM_001164508.2(NEB):c.25543G>T (p.Gly8515Ter) rs776932788
NM_001164508.2(NEB):c.25544del (p.Gly8515fs) rs1205824305
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe) rs117861109
NM_001164508.2(NEB):c.25573A>G (p.Ile8525Val) rs2049766133
NM_001164508.2(NEB):c.25576T>G (p.Ter8526Glu)
NM_001164508.2(NEB):c.2567T>C (p.Ile856Thr)
NM_001164508.2(NEB):c.2569G>A (p.Gly857Arg) rs1559253666
NM_001164508.2(NEB):c.2572G>A (p.Ala858Thr)
NM_001164508.2(NEB):c.2581A>G (p.Ile861Val) rs755695934
NM_001164508.2(NEB):c.2586T>A (p.Asn862Lys)
NM_001164508.2(NEB):c.25G>A (p.Glu9Lys) rs2151148401
NM_001164508.2(NEB):c.2609C>T (p.Ser870Phe) rs896068588
NM_001164508.2(NEB):c.2618C>T (p.Thr873Ile)
NM_001164508.2(NEB):c.2624A>G (p.Lys875Arg)
NM_001164508.2(NEB):c.2630A>T (p.Gln877Leu) rs373892420
NM_001164508.2(NEB):c.2637+3G>C
NM_001164508.2(NEB):c.2659G>A (p.Glu887Lys) rs1553558398
NM_001164508.2(NEB):c.2678A>G (p.Tyr893Cys)
NM_001164508.2(NEB):c.2681C>A (p.Thr894Lys)
NM_001164508.2(NEB):c.2681C>T (p.Thr894Met)
NM_001164508.2(NEB):c.2762T>C (p.Leu921Ser) rs2099480203
NM_001164508.2(NEB):c.2822C>T (p.Ala941Val) rs765478068
NM_001164508.2(NEB):c.2833G>A (p.Asp945Asn)
NM_001164508.2(NEB):c.2833G>T (p.Asp945Tyr) rs549231016
NM_001164508.2(NEB):c.2835+5G>C rs2148837364
NM_001164508.2(NEB):c.2866A>T (p.Met956Leu)
NM_001164508.2(NEB):c.2875_2877del (p.Cys959del) rs766232587
NM_001164508.2(NEB):c.2881T>C (p.Trp961Arg)
NM_001164508.2(NEB):c.2904A>G (p.Glu968=) rs2099429615
NM_001164508.2(NEB):c.2906T>G (p.Met969Arg) rs2099429603
NM_001164508.2(NEB):c.2921G>T (p.Arg974Leu) rs368642083
NM_001164508.2(NEB):c.2942A>G (p.Glu981Gly) rs1225494274
NM_001164508.2(NEB):c.2943+5dup rs2099429370
NM_001164508.2(NEB):c.2957A>G (p.Gln986Arg) rs781465553
NM_001164508.2(NEB):c.296A>T (p.Asn99Ile)
NM_001164508.2(NEB):c.2975A>T (p.Lys992Met)
NM_001164508.2(NEB):c.2987T>C (p.Ile996Thr) rs753691207
NM_001164508.2(NEB):c.2998C>G (p.Pro1000Ala) rs763910385
NM_001164508.2(NEB):c.3022A>G (p.Asn1008Asp) rs1576128802
NM_001164508.2(NEB):c.3028G>C (p.Ala1010Pro) rs770003609
NM_001164508.2(NEB):c.3042+3_3042+6del rs2099408346
NM_001164508.2(NEB):c.3047C>T (p.Ala1016Val) rs2148609477
NM_001164508.2(NEB):c.3071T>C (p.Ile1024Thr)
NM_001164508.2(NEB):c.3098A>G (p.Asp1033Gly)
NM_001164508.2(NEB):c.3101T>C (p.Leu1034Pro)
NM_001164508.2(NEB):c.3103C>T (p.Pro1035Ser)
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.3147+5G>T
NM_001164508.2(NEB):c.3148-3C>A
NM_001164508.2(NEB):c.3154T>C (p.Tyr1052His) rs1553539456
NM_001164508.2(NEB):c.3165C>G (p.Asp1055Glu)
NM_001164508.2(NEB):c.3183G>C (p.Lys1061Asn)
NM_001164508.2(NEB):c.3190T>A (p.Tyr1064Asn) rs2148596836
NM_001164508.2(NEB):c.3209C>G (p.Ala1070Gly) rs371710158
NM_001164508.2(NEB):c.3209C>T (p.Ala1070Val) rs371710158
NM_001164508.2(NEB):c.3218_3226dup (p.Ala1075_Ala1076insValArgAla) rs1553539039
NM_001164508.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001164508.2(NEB):c.3223G>A (p.Ala1075Thr)
NM_001164508.2(NEB):c.3230A>G (p.Lys1077Arg) rs2099400877
NM_001164508.2(NEB):c.3235G>T (p.Ala1079Ser) rs1576082029
NM_001164508.2(NEB):c.3238_3239insAACCTGCCA (p.Ala1079_Arg1080insLysProAla) rs2099400833
NM_001164508.2(NEB):c.3253G>A (p.Asp1085Asn) rs2099400725
NM_001164508.2(NEB):c.3286A>G (p.Lys1096Glu)
NM_001164508.2(NEB):c.3320A>T (p.Asp1107Val)
NM_001164508.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001164508.2(NEB):c.3359T>C (p.Ile1120Thr)
NM_001164508.2(NEB):c.3362A>G (p.Gln1121Arg) rs1559152642
NM_001164508.2(NEB):c.3397A>G (p.Thr1133Ala) rs1294520829
NM_001164508.2(NEB):c.3424G>A (p.Asp1142Asn) rs747102490
NM_001164508.2(NEB):c.3428T>A (p.Met1143Lys) rs1428000725
NM_001164508.2(NEB):c.3443C>A (p.Ala1148Glu) rs200637566
NM_001164508.2(NEB):c.3445G>T (p.Ala1149Ser) rs752178904
NM_001164508.2(NEB):c.3474T>G (p.Asn1158Lys)
NM_001164508.2(NEB):c.3500A>G (p.His1167Arg) rs2154210444
NM_001164508.2(NEB):c.352G>T (p.Asp118Tyr)
NM_001164508.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001164508.2(NEB):c.3551T>C (p.Met1184Thr) rs1308063415
NM_001164508.2(NEB):c.3567+3_3567+6del rs1553534336
NM_001164508.2(NEB):c.3568-15_3568-14insGCCCTCACTCCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC
NM_001164508.2(NEB):c.36+2dup
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3616A>G (p.Ile1206Val)
NM_001164508.2(NEB):c.3630T>G (p.Ser1210Arg)
NM_001164508.2(NEB):c.3649A>G (p.Lys1217Glu)
NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)
NM_001164508.2(NEB):c.3664G>T (p.Ala1222Ser)
NM_001164508.2(NEB):c.3676AAG[1] (p.Lys1227del) rs1553532187
NM_001164508.2(NEB):c.3677A>G (p.Lys1226Arg) rs2099381015
NM_001164508.2(NEB):c.3681G>T (p.Lys1227Asn)
NM_001164508.2(NEB):c.3694C>G (p.Pro1232Ala) rs776796255
NM_001164508.2(NEB):c.3698A>G (p.Asp1233Gly)
NM_001164508.2(NEB):c.3700A>G (p.Thr1234Ala)
NM_001164508.2(NEB):c.3713C>T (p.Thr1238Ile) rs1311528896
NM_001164508.2(NEB):c.3715A>C (p.Ser1239Arg) rs759109957
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg) rs765671775
NM_001164508.2(NEB):c.3724G>A (p.Asp1242Asn)
NM_001164508.2(NEB):c.3728C>T (p.Ser1243Phe)
NM_001164508.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001164508.2(NEB):c.3774+4A>C rs1026503983
NM_001164508.2(NEB):c.3776T>C (p.Ile1259Thr) rs1553522143
NM_001164508.2(NEB):c.3786G>T (p.Lys1262Asn)
NM_001164508.2(NEB):c.3788C>A (p.Ala1263Asp) rs1575886894
NM_001164508.2(NEB):c.3795AGA[1] (p.Glu1266del) rs1553522046
NM_001164508.2(NEB):c.37T>C (p.Tyr13His)
NM_001164508.2(NEB):c.3807A>C (p.Lys1269Asn)
NM_001164508.2(NEB):c.3815A>G (p.Tyr1272Cys) rs925465070
NM_001164508.2(NEB):c.3853A>G (p.Lys1285Glu)
NM_001164508.2(NEB):c.3862G>A (p.Ala1288Thr) rs775943165
NM_001164508.2(NEB):c.3869A>G (p.Asn1290Ser)
NM_001164508.2(NEB):c.3871A>G (p.Ile1291Val)
NM_001164508.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001164508.2(NEB):c.3879+2dup rs2099350895
NM_001164508.2(NEB):c.3879C>T (p.Asp1293=)
NM_001164508.2(NEB):c.3896A>T (p.Asp1299Val)
NM_001164508.2(NEB):c.3910A>G (p.Ile1304Val)
NM_001164508.2(NEB):c.3918G>T (p.Lys1306Asn)
NM_001164508.2(NEB):c.3938A>G (p.Asp1313Gly) rs2154198103
NM_001164508.2(NEB):c.3940G>A (p.Ala1314Thr) rs2154198100
NM_001164508.2(NEB):c.3943A>G (p.Ile1315Val)
NM_001164508.2(NEB):c.3943_3945delinsTGG (p.Ile1315Trp)
NM_001164508.2(NEB):c.394C>T (p.Leu132Phe) rs2099787743
NM_001164508.2(NEB):c.4010A>G (p.Glu1337Gly) rs921890762
NM_001164508.2(NEB):c.4016C>T (p.Ser1339Leu)
NM_001164508.2(NEB):c.401A>G (p.Glu134Gly) rs2150794998
NM_001164508.2(NEB):c.402+4G>A rs1162289427
NM_001164508.2(NEB):c.402+4_402+27del
NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)
NM_001164508.2(NEB):c.4034G>A (p.Gly1345Asp)
NM_001164508.2(NEB):c.4042A>G (p.Ser1348Gly)
NM_001164508.2(NEB):c.4073A>G (p.Tyr1358Cys) rs1223706560
NM_001164508.2(NEB):c.4100A>T (p.Asp1367Val)
NM_001164508.2(NEB):c.4119C>A (p.Asn1373Lys) rs377653217
NM_001164508.2(NEB):c.4144C>G (p.His1382Asp) rs2099313352
NM_001164508.2(NEB):c.4153G>C (p.Gly1385Arg)
NM_001164508.2(NEB):c.4160T>C (p.Met1387Thr) rs760822809
NM_001164508.2(NEB):c.4185G>A (p.Met1395Ile)
NM_001164508.2(NEB):c.4192G>T (p.Asp1398Tyr)
NM_001164508.2(NEB):c.4214A>G (p.Tyr1405Cys)
NM_001164508.2(NEB):c.422G>A (p.Gly141Asp) rs973669056
NM_001164508.2(NEB):c.4235A>T (p.Tyr1412Phe)
NM_001164508.2(NEB):c.4244T>A (p.Leu1415Gln) rs2099312411
NM_001164508.2(NEB):c.4264G>C (p.Glu1422Gln) rs921972170
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.4298A>C (p.Asp1433Ala)
NM_001164508.2(NEB):c.4300-3C>T rs2154190807
NM_001164508.2(NEB):c.4325G>T (p.Ser1442Ile)
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val) rs541803470
NM_001164508.2(NEB):c.4339A>G (p.Ile1447Val)
NM_001164508.2(NEB):c.4372G>A (p.Glu1458Lys) rs1559073472
NM_001164508.2(NEB):c.43A>G (p.Thr15Ala) rs918736685
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.4415A>G (p.Tyr1472Cys)
NM_001164508.2(NEB):c.441A>G (p.Ile147Met) rs2099785798
NM_001164508.2(NEB):c.4424A>G (p.His1475Arg) rs2154190465
NM_001164508.2(NEB):c.4432A>G (p.Thr1478Ala) rs2099279650
NM_001164508.2(NEB):c.4439A>C (p.Lys1480Thr)
NM_001164508.2(NEB):c.4448G>A (p.Ser1483Asn) rs1417148362
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val) rs74482326
NM_001164508.2(NEB):c.446A>G (p.His149Arg) rs2150762228
NM_001164508.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001164508.2(NEB):c.4498C>T (p.Leu1500=)
NM_001164508.2(NEB):c.4506+4A>G
NM_001164508.2(NEB):c.4507-3del rs767772701
NM_001164508.2(NEB):c.4520T>G (p.Val1507Gly)
NM_001164508.2(NEB):c.4523A>G (p.Glu1508Gly)
NM_001164508.2(NEB):c.4526G>A (p.Gly1509Glu) rs2154185771
NM_001164508.2(NEB):c.452A>G (p.Asp151Gly)
NM_001164508.2(NEB):c.4568C>T (p.Pro1523Leu)
NM_001164508.2(NEB):c.4583C>T (p.Ala1528Val) rs1023227996
NM_001164508.2(NEB):c.4595C>A (p.Ala1532Asp) rs1456966310
NM_001164508.2(NEB):c.4603A>G (p.Met1535Val)
NM_001164508.2(NEB):c.4611T>C (p.Asp1537=) rs2099254265
NM_001164508.2(NEB):c.4652G>A (p.Gly1551Asp) rs2099240158
NM_001164508.2(NEB):c.4684G>T (p.Val1562Phe)
NM_001164508.2(NEB):c.4694A>C (p.Lys1565Thr)
NM_001164508.2(NEB):c.4703G>A (p.Arg1568Lys)
NM_001164508.2(NEB):c.4736C>T (p.Ala1579Val) rs751602407
NM_001164508.2(NEB):c.4738T>C (p.Tyr1580His) rs2154179233
NM_001164508.2(NEB):c.476A>G (p.His159Arg)
NM_001164508.2(NEB):c.4775G>C (p.Ser1592Thr)
NM_001164508.2(NEB):c.47A>G (p.Glu16Gly)
NM_001164508.2(NEB):c.47AAG[1] (p.Glu17del) rs760256873
NM_001164508.2(NEB):c.4802A>G (p.His1601Arg)
NM_001164508.2(NEB):c.4819A>G (p.Lys1607Glu)
NM_001164508.2(NEB):c.481A>G (p.Lys161Glu) rs1440684786
NM_001164508.2(NEB):c.4834C>A (p.Arg1612Ser) rs200545007
NM_001164508.2(NEB):c.4835G>C (p.Arg1612Pro)
NM_001164508.2(NEB):c.4835G>T (p.Arg1612Leu) rs534531948
NM_001164508.2(NEB):c.4843A>G (p.Lys1615Glu) rs1237432906
NM_001164508.2(NEB):c.4847A>G (p.Lys1616Arg)
NM_001164508.2(NEB):c.4853A>G (p.Tyr1618Cys) rs759773612
NM_001164508.2(NEB):c.4868C>G (p.Thr1623Ser)
NM_001164508.2(NEB):c.4880C>T (p.Thr1627Ile) rs1651215974
NM_001164508.2(NEB):c.4934C>A (p.Thr1645Asn)
NM_001164508.2(NEB):c.4937A>G (p.Asn1646Ser)
NM_001164508.2(NEB):c.4938C>A (p.Asn1646Lys)
NM_001164508.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001164508.2(NEB):c.4960C>A (p.His1654Asn) rs2154178833
NM_001164508.2(NEB):c.4964A>G (p.His1655Arg) rs2099214775
NM_001164508.2(NEB):c.4970C>G (p.Thr1657Ser)
NM_001164508.2(NEB):c.4978C>T (p.Pro1660Ser) rs776231831
NM_001164508.2(NEB):c.4985C>A (p.Ala1662Asp) rs2154178777
NM_001164508.2(NEB):c.4987T>A (p.Leu1663Met) rs2154178771
NM_001164508.2(NEB):c.499G>C (p.Val167Leu)
NM_001164508.2(NEB):c.5024A>G (p.Gln1675Arg) rs2099214265
NM_001164508.2(NEB):c.5029G>A (p.Asp1677Asn) rs778722719
NM_001164508.2(NEB):c.5030A>G (p.Asp1677Gly)
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164508.2(NEB):c.5039_5044del (p.Tyr1680_Lys1681del) rs1300563797
NM_001164508.2(NEB):c.5074G>A (p.Gly1692Ser) rs764638678
NM_001164508.2(NEB):c.5075G>T (p.Gly1692Val)
NM_001164508.2(NEB):c.508-6G>A rs374227241
NM_001164508.2(NEB):c.5104G>A (p.Glu1702Lys)
NM_001164508.2(NEB):c.5120C>A (p.Ala1707Glu) rs1575576650
NM_001164508.2(NEB):c.5132T>C (p.Leu1711Pro) rs2099203051
NM_001164508.2(NEB):c.5140AAG[1] (p.Lys1715del) rs1553492424
NM_001164508.2(NEB):c.5150G>T (p.Arg1717Leu) rs747091795
NM_001164508.2(NEB):c.5153A>T (p.Gln1718Leu) rs1064796520
NM_001164508.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
NM_001164508.2(NEB):c.5211_5213del (p.Asn1737del) rs1553491789
NM_001164508.2(NEB):c.5224C>T (p.Leu1742=) rs886054947
NM_001164508.2(NEB):c.5238+1G>A
NM_001164508.2(NEB):c.5239A>G (p.Arg1747Gly) rs1272476034
NM_001164508.2(NEB):c.5257T>C (p.Trp1753Arg)
NM_001164508.2(NEB):c.5261A>G (p.Asn1754Ser)
NM_001164508.2(NEB):c.5264A>T (p.Lys1755Met)
NM_001164508.2(NEB):c.5279T>G (p.Ile1760Ser)
NM_001164508.2(NEB):c.529G>A (p.Glu177Lys) rs1403433350
NM_001164508.2(NEB):c.52G>C (p.Val18Leu) rs2150994592
NM_001164508.2(NEB):c.5304T>A (p.Asp1768Glu)
NM_001164508.2(NEB):c.5311C>T (p.Leu1771Phe)
NM_001164508.2(NEB):c.5329A>G (p.Ile1777Val)
NM_001164508.2(NEB):c.5332A>T (p.Thr1778Ser) rs2099190635
NM_001164508.2(NEB):c.5335A>T (p.Met1779Leu) rs962698882
NM_001164508.2(NEB):c.5337G>A (p.Met1779Ile)
NM_001164508.2(NEB):c.5345A>C (p.Lys1782Thr)
NM_001164508.2(NEB):c.5348T>C (p.Leu1783Pro)
NM_001164508.2(NEB):c.5365G>A (p.Glu1789Lys) rs774196513
NM_001164508.2(NEB):c.5395A>C (p.Arg1799=) rs2099187669
NM_001164508.2(NEB):c.5403T>G (p.Asp1801Glu)
NM_001164508.2(NEB):c.5405C>A (p.Ala1802Asp)
NM_001164508.2(NEB):c.5419G>C (p.Ala1807Pro)
NM_001164508.2(NEB):c.5419G>T (p.Ala1807Ser) rs374677022
NM_001164508.2(NEB):c.5420C>G (p.Ala1807Gly) rs373790988
NM_001164508.2(NEB):c.5432C>G (p.Ser1811Cys)
NM_001164508.2(NEB):c.5436A>C (p.Arg1812Ser)
NM_001164508.2(NEB):c.5437G>A (p.Asp1813Asn) rs2099187269
NM_001164508.2(NEB):c.5444C>G (p.Ala1815Gly) rs767491081
NM_001164508.2(NEB):c.5451T>C (p.Asp1817=)
NM_001164508.2(NEB):c.5467G>T (p.Ala1823Ser) rs2099173290
NM_001164508.2(NEB):c.54_56dup (p.Val19dup) rs1553702754
NM_001164508.2(NEB):c.5515G>A (p.Asp1839Asn) rs2099172820
NM_001164508.2(NEB):c.5525A>G (p.Lys1842Arg) rs2099172694
NM_001164508.2(NEB):c.5535C>G (p.His1845Gln)
NM_001164508.2(NEB):c.5555T>C (p.Met1852Thr) rs144180493
NM_001164508.2(NEB):c.5558A>C (p.Gln1853Pro) rs748760784
NM_001164508.2(NEB):c.5561C>T (p.Ser1854Leu) rs1553485582
NM_001164508.2(NEB):c.5587G>A (p.Glu1863Lys)
NM_001164508.2(NEB):c.5596A>G (p.Lys1866Glu)
NM_001164508.2(NEB):c.5612C>A (p.Thr1871Asn) rs753865894
NM_001164508.2(NEB):c.5630G>T (p.Ser1877Ile)
NM_001164508.2(NEB):c.5641_5642delinsAG (p.Ala1881Ser) rs2154172447
NM_001164508.2(NEB):c.5669A>T (p.Asn1890Ile)
NM_001164508.2(NEB):c.5678A>G (p.Tyr1893Cys)
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.5682G>C (p.Arg1894Ser)
NM_001164508.2(NEB):c.5683A>C (p.Asn1895His)
NM_001164508.2(NEB):c.5698_5703del (p.Tyr1900_Asn1901del) rs775531807
NM_001164508.2(NEB):c.5699A>T (p.Tyr1900Phe)
NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val) rs2099170735
NM_001164508.2(NEB):c.5719A>G (p.Met1907Val)
NM_001164508.2(NEB):c.5720T>G (p.Met1907Arg)
NM_001164508.2(NEB):c.5754T>G (p.Ile1918Met)
NM_001164508.2(NEB):c.5767C>G (p.Gln1923Glu) rs2154169026
NM_001164508.2(NEB):c.5771A>C (p.Tyr1924Ser)
NM_001164508.2(NEB):c.5771A>G (p.Tyr1924Cys) rs747326135
NM_001164508.2(NEB):c.5806G>A (p.Gly1936Arg) rs997951612
NM_001164508.2(NEB):c.5816C>T (p.Pro1939Leu) rs1486289467
NM_001164508.2(NEB):c.5824T>A (p.Ser1942Thr) rs2154168846
NM_001164508.2(NEB):c.5828T>A (p.Leu1943Gln) rs531692437
NM_001164508.2(NEB):c.5836G>A (p.Glu1946Lys)
NM_001164508.2(NEB):c.5843A>T (p.Asn1948Ile) rs2154168814
NM_001164508.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.5864T>C (p.Ile1955Thr)
NM_001164508.2(NEB):c.5895C>A (p.Asp1965Glu)
NM_001164508.2(NEB):c.5924C>T (p.Ser1975Leu)
NM_001164508.2(NEB):c.5935G>C (p.Val1979Leu) rs771329756
NM_001164508.2(NEB):c.5936T>C (p.Val1979Ala) rs749553879
NM_001164508.2(NEB):c.5945A>C (p.Gln1982Pro) rs1212716508
NM_001164508.2(NEB):c.5973T>A (p.His1991Gln)
NM_001164508.2(NEB):c.5986G>A (p.Ala1996Thr)
NM_001164508.2(NEB):c.5986G>C (p.Ala1996Pro)
NM_001164508.2(NEB):c.5987C>A (p.Ala1996Glu)
NM_001164508.2(NEB):c.5992G>C (p.Glu1998Gln)
NM_001164508.2(NEB):c.6031C>T (p.Pro2011Ser)
NM_001164508.2(NEB):c.6032C>T (p.Pro2011Leu) rs2099118243
NM_001164508.2(NEB):c.6035A>G (p.Gln2012Arg) rs2154157733
NM_001164508.2(NEB):c.6046G>C (p.Ala2016Pro) rs1558927613
NM_001164508.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001164508.2(NEB):c.6075+3A>T rs986325764
NM_001164508.2(NEB):c.6077A>G (p.Lys2026Arg)
NM_001164508.2(NEB):c.6080T>A (p.Leu2027His)
NM_001164508.2(NEB):c.6085A>C (p.Lys2029Gln) rs1387009037
NM_001164508.2(NEB):c.6086A>T (p.Lys2029Ile) rs747575539
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001164508.2(NEB):c.6143C>T (p.Pro2048Leu)
NM_001164508.2(NEB):c.6179G>T (p.Ser2060Ile)
NM_001164508.2(NEB):c.617T>G (p.Leu206Arg)
NM_001164508.2(NEB):c.6195_6200del (p.2063KY[1]) rs767681176
NM_001164508.2(NEB):c.6226G>A (p.Val2076Ile)
NM_001164508.2(NEB):c.6241C>T (p.Leu2081Phe)
NM_001164508.2(NEB):c.6242T>G (p.Leu2081Arg) rs2099085781
NM_001164508.2(NEB):c.6254C>T (p.Pro2085Leu) rs773025267
NM_001164508.2(NEB):c.6263T>C (p.Val2088Ala)
NM_001164508.2(NEB):c.6271A>C (p.Met2091Leu)
NM_001164508.2(NEB):c.6288G>A (p.Met2096Ile) rs2154149119
NM_001164508.2(NEB):c.6299G>A (p.Arg2100Gln) rs752836728
NM_001164508.2(NEB):c.6323A>G (p.Asn2108Ser) rs1558891493
NM_001164508.2(NEB):c.6340C>T (p.His2114Tyr)
NM_001164508.2(NEB):c.6355A>G (p.Met2119Val)
NM_001164508.2(NEB):c.6394A>G (p.Ile2132Val) rs755394940
NM_001164508.2(NEB):c.6403A>G (p.Thr2135Ala)
NM_001164508.2(NEB):c.6430T>G (p.Tyr2144Asp)
NM_001164508.2(NEB):c.6455A>G (p.Asn2152Ser)
NM_001164508.2(NEB):c.6467C>G (p.Thr2156Ser)
NM_001164508.2(NEB):c.6493G>A (p.Asp2165Asn) rs1234273631
NM_001164508.2(NEB):c.6493G>C (p.Asp2165His) rs1234273631
NM_001164508.2(NEB):c.64G>A (p.Glu22Lys) rs2150994058
NM_001164508.2(NEB):c.6502T>C (p.Tyr2168His)
NM_001164508.2(NEB):c.6547C>A (p.Pro2183Thr)
NM_001164508.2(NEB):c.6554G>T (p.Gly2185Val) rs373439650
NM_001164508.2(NEB):c.6568G>A (p.Glu2190Lys) rs2099082027
NM_001164508.2(NEB):c.6577A>G (p.Lys2193Glu)
NM_001164508.2(NEB):c.6578A>G (p.Lys2193Arg) rs2099081977
NM_001164508.2(NEB):c.6583G>A (p.Ala2195Thr) rs2099081952
NM_001164508.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001164508.2(NEB):c.6629A>C (p.Asn2210Thr) rs768864684
NM_001164508.2(NEB):c.6629A>G (p.Asn2210Ser) rs768864684
NM_001164508.2(NEB):c.662A>G (p.Tyr221Cys) rs571230045
NM_001164508.2(NEB):c.6660G>A (p.Met2220Ile) rs199766131
NM_001164508.2(NEB):c.6679C>G (p.Gln2227Glu)
NM_001164508.2(NEB):c.6695T>A (p.Met2232Lys)
NM_001164508.2(NEB):c.6713C>G (p.Thr2238Ser)
NM_001164508.2(NEB):c.6713C>T (p.Thr2238Ile)
NM_001164508.2(NEB):c.6719A>G (p.Asp2240Gly) rs1362776689
NM_001164508.2(NEB):c.6730G>A (p.Asp2244Asn)
NM_001164508.2(NEB):c.6778G>A (p.Ala2260Thr)
NM_001164508.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.6828G>C (p.Trp2276Cys) rs2099059984
NM_001164508.2(NEB):c.682A>T (p.Arg228Trp) rs1363435897
NM_001164508.2(NEB):c.6851A>C (p.Tyr2284Ser) rs778637750
NM_001164508.2(NEB):c.6867_6869dup (p.Ala2290_Ile2291insAla)
NM_001164508.2(NEB):c.6873T>G (p.Ile2291Met) rs1265000238
NM_001164508.2(NEB):c.6884T>C (p.Leu2295Pro) rs2099059670
NM_001164508.2(NEB):c.6914A>T (p.Asp2305Val)
NM_001164508.2(NEB):c.6916-16_6916-8del rs2099021798
NM_001164508.2(NEB):c.6922T>A (p.Tyr2308Asn)
NM_001164508.2(NEB):c.6923A>G (p.Tyr2308Cys)
NM_001164508.2(NEB):c.6926A>C (p.Lys2309Thr)
NM_001164508.2(NEB):c.6928C>A (p.Gln2310Lys)
NM_001164508.2(NEB):c.6928C>G (p.Gln2310Glu)
NM_001164508.2(NEB):c.6931G>A (p.Gly2311Ser) rs757526825
NM_001164508.2(NEB):c.6935A>G (p.Tyr2312Cys)
NM_001164508.2(NEB):c.6946C>G (p.Leu2316Val)
NM_001164508.2(NEB):c.6954C>G (p.His2318Gln)
NM_001164508.2(NEB):c.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001164508.2(NEB):c.6961G>A (p.Gly2321Arg) rs1575132924
NM_001164508.2(NEB):c.6999G>T (p.Leu2333Phe)
NM_001164508.2(NEB):c.7003A>G (p.Met2335Val)
NM_001164508.2(NEB):c.7004T>C (p.Met2335Thr) rs769646337
NM_001164508.2(NEB):c.7025G>C (p.Ser2342Thr) rs372132667
NM_001164508.2(NEB):c.7033G>C (p.Glu2345Gln)
NM_001164508.2(NEB):c.7039A>G (p.Lys2347Glu)
NM_001164508.2(NEB):c.706G>C (p.Ala236Pro)
NM_001164508.2(NEB):c.709C>T (p.Leu237Phe)
NM_001164508.2(NEB):c.7102C>G (p.Leu2368Val) rs1553449170
NM_001164508.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001164508.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
NM_001164508.2(NEB):c.7144A>G (p.Lys2382Glu)
NM_001164508.2(NEB):c.7158T>C (p.His2386=) rs1051050497
NM_001164508.2(NEB):c.7160A>G (p.Gln2387Arg) rs2099020273
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001164508.2(NEB):c.7197A>C (p.Gln2399His) rs2099020027
NM_001164508.2(NEB):c.7198G>A (p.Ala2400Thr)
NM_001164508.2(NEB):c.71C>A (p.Pro24Gln)
NM_001164508.2(NEB):c.7207G>C (p.Val2403Leu)
NM_001164508.2(NEB):c.7228-3C>G rs577996029
NM_001164508.2(NEB):c.7235A>G (p.Tyr2412Cys) rs1575122611
NM_001164508.2(NEB):c.7265T>G (p.Ile2422Arg)
NM_001164508.2(NEB):c.727A>G (p.Lys243Glu)
NM_001164508.2(NEB):c.728A>G (p.Lys243Arg) rs1031592589
NM_001164508.2(NEB):c.7310G>T (p.Arg2437Leu) rs61730780
NM_001164508.2(NEB):c.7312G>A (p.Ala2438Thr) rs202233025
NM_001164508.2(NEB):c.7318G>A (p.Glu2440Lys)
NM_001164508.2(NEB):c.7324A>G (p.Ile2442Val) rs1553447698
NM_001164508.2(NEB):c.7328G>T (p.Ser2443Ile)
NM_001164508.2(NEB):c.7339T>C (p.Tyr2447His)
NM_001164508.2(NEB):c.7362C>G (p.Asn2454Lys) rs1057518861
NM_001164508.2(NEB):c.7369A>C (p.Thr2457Pro)
NM_001164508.2(NEB):c.7372A>G (p.Ser2458Gly)
NM_001164508.2(NEB):c.7373_7374delinsAA (p.Ser2458Lys)
NM_001164508.2(NEB):c.7421A>C (p.Asn2474Thr)
NM_001164508.2(NEB):c.7434A>C (p.Arg2478Ser)
NM_001164508.2(NEB):c.7434A>T (p.Arg2478Ser)
NM_001164508.2(NEB):c.7469A>C (p.Gln2490Pro) rs1446110323
NM_001164508.2(NEB):c.7487A>G (p.Asp2496Gly) rs767734665
NM_001164508.2(NEB):c.74G>A (p.Gly25Glu)
NM_001164508.2(NEB):c.751G>C (p.Ala251Pro)
NM_001164508.2(NEB):c.7523T>C (p.Ile2508Thr)
NM_001164508.2(NEB):c.752C>G (p.Ala251Gly)
NM_001164508.2(NEB):c.7537-3C>A rs886054946
NM_001164508.2(NEB):c.7538A>G (p.Lys2513Arg) rs190059793
NM_001164508.2(NEB):c.7543T>C (p.Tyr2515His)
NM_001164508.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
NM_001164508.2(NEB):c.7569G>C (p.Lys2523Asn)
NM_001164508.2(NEB):c.7588C>T (p.Pro2530Ser)
NM_001164508.2(NEB):c.7603C>A (p.Pro2535Thr)
NM_001164508.2(NEB):c.7644A>G (p.Glu2548=) rs916950454
NM_001164508.2(NEB):c.7645-14T>C rs886054945
NM_001164508.2(NEB):c.7645-6dup
NM_001164508.2(NEB):c.7646A>G (p.Tyr2549Cys) rs1553984101
NM_001164508.2(NEB):c.764C>G (p.Pro255Arg) rs1553663195
NM_001164508.2(NEB):c.7667G>A (p.Arg2556His)
NM_001164508.2(NEB):c.7667G>T (p.Arg2556Leu)
NM_001164508.2(NEB):c.7679G>T (p.Gly2560Val)
NM_001164508.2(NEB):c.7697G>A (p.Arg2566Gln)
NM_001164508.2(NEB):c.7697G>C (p.Arg2566Pro)
NM_001164508.2(NEB):c.7706A>C (p.Glu2569Ala)
NM_001164508.2(NEB):c.7710T>A (p.Asp2570Glu)
NM_001164508.2(NEB):c.771_772inv (p.Asp258Asn)
NM_001164508.2(NEB):c.7733T>C (p.Met2578Thr)
NM_001164508.2(NEB):c.7740G>A (p.Val2580=) rs2098921464
NM_001164508.2(NEB):c.7751A>G (p.Gln2584Arg)
NM_001164508.2(NEB):c.7762G>A (p.Glu2588Lys) rs756738995
NM_001164508.2(NEB):c.7769A>G (p.Lys2590Arg)
NM_001164508.2(NEB):c.776C>T (p.Pro259Leu)
NM_001164508.2(NEB):c.778C>T (p.Pro260Ser) rs1425616065
NM_001164508.2(NEB):c.7802G>A (p.Ser2601Asn)
NM_001164508.2(NEB):c.7837_7839delinsCAC (p.Lys2613His)
NM_001164508.2(NEB):c.7844G>T (p.Cys2615Phe) rs749508488
NM_001164508.2(NEB):c.7865T>C (p.Val2622Ala) rs563691738
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001164508.2(NEB):c.7867G>A (p.Asp2623Asn) rs543795912
NM_001164508.2(NEB):c.7882C>G (p.Leu2628Val) rs1222037893
NM_001164508.2(NEB):c.78G>A (p.Glu26=) rs1553702617
NM_001164508.2(NEB):c.7913_7914delinsAT (p.Ser2638Asn) rs1574937918
NM_001164508.2(NEB):c.7915G>A (p.Asp2639Asn)
NM_001164508.2(NEB):c.7925A>G (p.His2642Arg)
NM_001164508.2(NEB):c.7930C>T (p.Arg2644Trp)
NM_001164508.2(NEB):c.7945C>T (p.Leu2649Phe)
NM_001164508.2(NEB):c.7956+4A>G rs886054944
NM_001164508.2(NEB):c.7957-13C>G
NM_001164508.2(NEB):c.7964A>G (p.Tyr2655Cys) rs1389374032
NM_001164508.2(NEB):c.7968G>C (p.Lys2656Asn)
NM_001164508.2(NEB):c.7983G>T (p.Trp2661Cys) rs756956766
NM_001164508.2(NEB):c.7993A>T (p.Ile2665Phe) rs2098910017
NM_001164508.2(NEB):c.8027A>G (p.Glu2676Gly) rs2154114705
NM_001164508.2(NEB):c.8029A>G (p.Lys2677Glu)
NM_001164508.2(NEB):c.8035A>G (p.Lys2679Glu) rs549227905
NM_001164508.2(NEB):c.8047C>A (p.Gln2683Lys) rs2154114662
NM_001164508.2(NEB):c.8101A>G (p.Ser2701Gly) rs2098908042
NM_001164508.2(NEB):c.8111A>C (p.Asp2704Ala) rs2098907855
NM_001164508.2(NEB):c.8111A>T (p.Asp2704Val)
NM_001164508.2(NEB):c.8146A>G (p.Ile2716Val) rs1574917037
NM_001164508.2(NEB):c.8159A>C (p.His2720Pro)
NM_001164508.2(NEB):c.8161C>A (p.Arg2721Ser)
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_001164508.2(NEB):c.8171C>T (p.Thr2724Ile)
NM_001164508.2(NEB):c.8190T>A (p.Asp2730Glu)
NM_001164508.2(NEB):c.8203C>G (p.His2735Asp) rs759848500
NM_001164508.2(NEB):c.820A>G (p.Lys274Glu)
NM_001164508.2(NEB):c.8213C>T (p.Pro2738Leu)
NM_001164508.2(NEB):c.8219C>A (p.Thr2740Asn)
NM_001164508.2(NEB):c.8219C>T (p.Thr2740Ile) rs763429938
NM_001164508.2(NEB):c.8221C>T (p.Pro2741Ser)
NM_001164508.2(NEB):c.8237C>T (p.Ala2746Val)
NM_001164508.2(NEB):c.8251G>A (p.Val2751Ile)
NM_001164508.2(NEB):c.8305G>A (p.Gly2769Ser)
NM_001164508.2(NEB):c.8306G>T (p.Gly2769Val) rs762272453
NM_001164508.2(NEB):c.8315T>G (p.Met2772Arg) rs1574896797
NM_001164508.2(NEB):c.8326G>C (p.Ala2776Pro) rs2098890629
NM_001164508.2(NEB):c.8333C>T (p.Pro2778Leu) rs2154112954
NM_001164508.2(NEB):c.8335A>T (p.Ile2779Phe) rs114853127
NM_001164508.2(NEB):c.8341G>T (p.Ala2781Ser) rs1160244999
NM_001164508.2(NEB):c.8344_8345delinsTT (p.Ala2782Phe)
NM_001164508.2(NEB):c.834AGA[1] (p.Glu279del) rs1553642771
NM_001164508.2(NEB):c.8350G>A (p.Ala2784Thr)
NM_001164508.2(NEB):c.8353T>C (p.Ser2785Pro) rs398124173
NM_001164508.2(NEB):c.8359G>A (p.Asp2787Asn)
NM_001164508.2(NEB):c.8374-3T>C rs2154105691
NM_001164508.2(NEB):c.8383A>G (p.Lys2795Glu)
NM_001164508.2(NEB):c.8386G>A (p.Glu2796Lys)
NM_001164508.2(NEB):c.8387A>G (p.Glu2796Gly)
NM_001164508.2(NEB):c.8395C>G (p.Arg2799Gly) rs779321118
NM_001164508.2(NEB):c.8395C>T (p.Arg2799Cys)
NM_001164508.2(NEB):c.8398A>G (p.Lys2800Glu)
NM_001164508.2(NEB):c.8422G>T (p.Ala2808Ser)
NM_001164508.2(NEB):c.8434C>A (p.Arg2812Ser) rs747131655
NM_001164508.2(NEB):c.8435G>A (p.Arg2812His)
NM_001164508.2(NEB):c.8461A>G (p.Met2821Val) rs2098834032
NM_001164508.2(NEB):c.8469G>A (p.Val2823=) rs1574818802
NM_001164508.2(NEB):c.8485G>A (p.Asp2829Asn)
NM_001164508.2(NEB):c.8493G>T (p.Glu2831Asp) rs2098833761
NM_001164508.2(NEB):c.8497AAG[1] (p.Lys2834del) rs764523437
NM_001164508.2(NEB):c.8498A>G (p.Lys2833Arg)
NM_001164508.2(NEB):c.8515T>A (p.Trp2839Arg)
NM_001164508.2(NEB):c.8530A>T (p.Ser2844Cys)
NM_001164508.2(NEB):c.8547G>C (p.Met2849Ile) rs2098833299
NM_001164508.2(NEB):c.8554G>T (p.Val2852Leu) rs1256097684
NM_001164508.2(NEB):c.8584G>T (p.Val2862Phe) rs949616238
NM_001164508.2(NEB):c.8590G>T (p.Asp2864Tyr)
NM_001164508.2(NEB):c.8597A>G (p.Asp2866Gly) rs370002964
NM_001164508.2(NEB):c.8598C>G (p.Asp2866Glu) rs1553966356
NM_001164508.2(NEB):c.8599T>C (p.Tyr2867His)
NM_001164508.2(NEB):c.85A>G (p.Thr29Ala)
NM_001164508.2(NEB):c.8609A>G (p.Tyr2870Cys)
NM_001164508.2(NEB):c.8615A>G (p.His2872Arg) rs2098832647
NM_001164508.2(NEB):c.8617C>A (p.Gln2873Lys)
NM_001164508.2(NEB):c.8620T>A (p.Trp2874Arg) rs2154104967
NM_001164508.2(NEB):c.8648T>C (p.Val2883Ala) rs2098832346
NM_001164508.2(NEB):c.8659C>T (p.Arg2887Trp) rs748618562
NM_001164508.2(NEB):c.8660G>A (p.Arg2887Gln) rs781688981
NM_001164508.2(NEB):c.8666C>G (p.Ala2889Gly)
NM_001164508.2(NEB):c.8668T>G (p.Tyr2890Asp)
NM_001164508.2(NEB):c.8680A>C (p.Ser2894Arg)
NM_001164508.2(NEB):c.8681G>A (p.Ser2894Asn) rs1420993227
NM_001164508.2(NEB):c.8682C>A (p.Ser2894Arg) rs373799650
NM_001164508.2(NEB):c.8685+3G>A
NM_001164508.2(NEB):c.8685+4A>T
NM_001164508.2(NEB):c.8686-3C>T rs2098827787
NM_001164508.2(NEB):c.8693A>G (p.Tyr2898Cys)
NM_001164508.2(NEB):c.8717G>C (p.Arg2906Thr) rs2154103510
NM_001164508.2(NEB):c.8718A>C (p.Arg2906Ser) rs753718572
NM_001164508.2(NEB):c.8722A>C (p.Ile2908Leu)
NM_001164508.2(NEB):c.8726G>C (p.Gly2909Ala)
NM_001164508.2(NEB):c.8733_8734inv (p.Ser2912Pro)
NM_001164508.2(NEB):c.8753T>G (p.Val2918Gly) rs2098827193
NM_001164508.2(NEB):c.8789A>G (p.Asp2930Gly) rs979095688
NM_001164508.2(NEB):c.8790T>G (p.Asp2930Glu)
NM_001164508.2(NEB):c.8793A>C (p.Lys2931Asn) rs764708311
NM_001164508.2(NEB):c.8794A>G (p.Ile2932Val) rs2098826922
NM_001164508.2(NEB):c.8796C>A (p.Ile2932=) rs886054943
NM_001164508.2(NEB):c.8831G>A (p.Ser2944Asn)
NM_001164508.2(NEB):c.8851C>G (p.Gln2951Glu) rs2154103068
NM_001164508.2(NEB):c.8876T>A (p.Ile2959Asn) rs1228319024
NM_001164508.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
NM_001164508.2(NEB):c.8891G>A (p.Arg2964His)
NM_001164508.2(NEB):c.8897A>G (p.Tyr2966Cys) rs1560822452
NM_001164508.2(NEB):c.8972T>G (p.Met2991Arg) rs539367087
NM_001164508.2(NEB):c.8982C>G (p.Ile2994Met) rs1251791997
NM_001164508.2(NEB):c.8995A>C (p.Ser2999Arg)
NM_001164508.2(NEB):c.8997T>A (p.Ser2999Arg) rs2154090899
NM_001164508.2(NEB):c.9002A>G (p.Tyr3001Cys) rs1574635522
NM_001164508.2(NEB):c.902_903delinsAT (p.Arg301Asn) rs2099741678
NM_001164508.2(NEB):c.9046C>G (p.Arg3016Gly) rs1057517977
NM_001164508.2(NEB):c.904A>G (p.Met302Val) rs755508128
NM_001164508.2(NEB):c.9052G>T (p.Asp3018Tyr)
NM_001164508.2(NEB):c.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001164508.2(NEB):c.9056C>T (p.Ala3019Val) rs1394119778
NM_001164508.2(NEB):c.906G>A (p.Met302Ile)
NM_001164508.2(NEB):c.9077A>G (p.Lys3026Arg)
NM_001164508.2(NEB):c.9102C>A (p.Asp3034Glu)
NM_001164508.2(NEB):c.9108A>T (p.Lys3036Asn)
NM_001164508.2(NEB):c.9118G>A (p.Gly3040Ser) rs758739517
NM_001164508.2(NEB):c.9124_9125inv (p.Cys3042His)
NM_001164508.2(NEB):c.9176A>G (p.Lys3059Arg)
NM_001164508.2(NEB):c.9193C>T (p.His3065Tyr)
NM_001164508.2(NEB):c.9278T>C (p.Leu3093Pro) rs2098711068
NM_001164508.2(NEB):c.9281G>C (p.Gly3094Ala) rs896120572
NM_001164508.2(NEB):c.9296A>G (p.Lys3099Arg)
NM_001164508.2(NEB):c.9336C>G (p.Asn3112Lys)
NM_001164508.2(NEB):c.9351G>T (p.Trp3117Cys)
NM_001164508.2(NEB):c.9365A>G (p.Asp3122Gly) rs2154080790
NM_001164508.2(NEB):c.9371G>A (p.Ser3124Asn)
NM_001164508.2(NEB):c.9374A>G (p.Asp3125Gly)
NM_001164508.2(NEB):c.9383A>G (p.His3128Arg) rs1460535254
NM_001164508.2(NEB):c.9389G>A (p.Arg3130Gln)
NM_001164508.2(NEB):c.938A>G (p.Gln313Arg) rs1559506055
NM_001164508.2(NEB):c.9398A>G (p.Tyr3133Cys)
NM_001164508.2(NEB):c.9407A>G (p.Gln3136Arg)
NM_001164508.2(NEB):c.9414+5G>A rs2154080637
NM_001164508.2(NEB):c.9439T>G (p.Trp3147Gly) rs2098662413
NM_001164508.2(NEB):c.943G>T (p.Asp315Tyr)
NM_001164508.2(NEB):c.9448G>A (p.Gly3150Ser)
NM_001164508.2(NEB):c.9463C>A (p.Pro3155Thr)
NM_001164508.2(NEB):c.9466A>T (p.Ile3156Phe) rs749280613
NM_001164508.2(NEB):c.9467T>C (p.Ile3156Thr) rs145770770
NM_001164508.2(NEB):c.946T>C (p.Phe316Leu) rs2150019628
NM_001164508.2(NEB):c.9473C>T (p.Ser3158Phe)
NM_001164508.2(NEB):c.9476T>C (p.Met3159Thr)
NM_001164508.2(NEB):c.9479A>C (p.Asp3160Ala) rs1574428058
NM_001164508.2(NEB):c.9481G>A (p.Val3161Met) rs1560693635
NM_001164508.2(NEB):c.9488A>G (p.Lys3163Arg)
NM_001164508.2(NEB):c.9490T>C (p.Cys3164Arg) rs1292713138
NM_001164508.2(NEB):c.9494A>G (p.Lys3165Arg) rs771512413
NM_001164508.2(NEB):c.9503C>T (p.Thr3168Ile) rs2098661076
NM_001164508.2(NEB):c.9530G>A (p.Arg3177His)
NM_001164508.2(NEB):c.9536C>T (p.Pro3179Leu)
NM_001164508.2(NEB):c.9542A>C (p.Asp3181Ala) rs767042929
NM_001164508.2(NEB):c.9542A>G (p.Asp3181Gly)
NM_001164508.2(NEB):c.9550A>G (p.Lys3184Glu)
NM_001164508.2(NEB):c.9551A>T (p.Lys3184Ile) rs2154073147
NM_001164508.2(NEB):c.9556A>T (p.Thr3186Ser) rs2154073125
NM_001164508.2(NEB):c.955A>G (p.Met319Val) rs1269690979
NM_001164508.2(NEB):c.9562G>A (p.Val3188Met)
NM_001164508.2(NEB):c.9586C>G (p.Leu3196Val)
NM_001164508.2(NEB):c.9587T>G (p.Leu3196Arg) rs754001835
NM_001164508.2(NEB):c.9590C>T (p.Ala3197Val) rs778131603
NM_001164508.2(NEB):c.9619C>A (p.Arg3207Ser) rs200351671
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9620G>T (p.Arg3207Leu) rs111841612
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
NM_001164508.2(NEB):c.9643A>G (p.Lys3215Glu)
NM_001164508.2(NEB):c.9659T>G (p.Ile3220Ser) rs2098651541
NM_001164508.2(NEB):c.9679C>G (p.Pro3227Ala) rs778571060
NM_001164508.2(NEB):c.9690G>A (p.Met3230Ile)
NM_001164508.2(NEB):c.9694G>A (p.Ala3232Thr) rs1329330602
NM_001164508.2(NEB):c.9704A>G (p.Asn3235Ser)
NM_001164508.2(NEB):c.9712A>G (p.Asn3238Asp)
NM_001164508.2(NEB):c.9723+4G>A rs577635321
NM_001164508.2(NEB):c.9725C>G (p.Thr3242Ser)
NM_001164508.2(NEB):c.9749A>C (p.Glu3250Ala)
NM_001164508.2(NEB):c.9751G>A (p.Ala3251Thr)
NM_001164508.2(NEB):c.9754A>C (p.Lys3252Gln)
NM_001164508.2(NEB):c.9760A>C (p.Lys3254Gln)
NM_001164508.2(NEB):c.9776G>A (p.Arg3259Gln) rs200930670
NM_001164508.2(NEB):c.9790C>G (p.Pro3264Ala) rs755708498
NM_001164508.2(NEB):c.9819_9820insAGG (p.Asp3273_Val3274insArg) rs1553934027
NM_001164508.2(NEB):c.9836A>G (p.Lys3279Arg) rs772766917
NM_001164508.2(NEB):c.9848G>T (p.Gly3283Val) rs2098553051
NM_001164508.2(NEB):c.985G>A (p.Glu329Lys) rs753638647
NM_001164508.2(NEB):c.9868C>T (p.His3290Tyr)
NM_001164508.2(NEB):c.9871C>G (p.His3291Asp) rs2154061498
NM_001164508.2(NEB):c.9889A>G (p.Ile3297Val) rs1245785481
NM_001164508.2(NEB):c.9917C>T (p.Ser3306Phe) rs2154061189
NM_001164508.2(NEB):c.9919A>G (p.Met3307Val)
NM_001164508.2(NEB):c.9921G>A (p.Met3307Ile) rs756185799
NM_001164508.2(NEB):c.9922C>T (p.His3308Tyr) rs1369787156
NM_001164508.2(NEB):c.9925G>A (p.Val3309Met)
NM_001164508.2(NEB):c.9947G>A (p.Arg3316Lys)
NM_001164508.2(NEB):c.9959A>T (p.Lys3320Met) rs373285394
NM_001164508.2(NEB):c.9960G>C (p.Lys3320Asn)
NM_001164508.2(NEB):c.9972G>T (p.Lys3324Asn) rs747709979
NM_001206641.3(COA6):c.272C>G (p.Ala91Gly)
NM_001256007.3(PNPLA8):c.1441G>A (p.Gly481Ser)
NM_001256007.3(PNPLA8):c.1452A>C (p.Thr484=)
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.1904C>T (p.Pro635Leu) rs2154514825
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) rs1859698620
NM_001256007.3(PNPLA8):c.692G>A (p.Arg231Gln)
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001256545.2(MEGF10):c.*1375A>G rs1212226492
NM_001256545.2(MEGF10):c.*1746T>G rs886059870
NM_001256545.2(MEGF10):c.*1866C>T rs886059871
NM_001256545.2(MEGF10):c.*186C>A rs765310112
NM_001256545.2(MEGF10):c.*2002A>T rs191111952
NM_001256545.2(MEGF10):c.*2113A>G rs183376722
NM_001256545.2(MEGF10):c.*2555A>G rs886059873
NM_001256545.2(MEGF10):c.*2852T>C rs997154382
NM_001256545.2(MEGF10):c.*2868G>A rs1332548047
NM_001256545.2(MEGF10):c.*2911T>G rs182225709
NM_001256545.2(MEGF10):c.*2972T>C rs886059874
NM_001256545.2(MEGF10):c.*3238A>C rs1580899331
NM_001256545.2(MEGF10):c.*3313T>C rs886059875
NM_001256545.2(MEGF10):c.*3461A>G rs886059876
NM_001256545.2(MEGF10):c.*3614C>T rs1414203140
NM_001256545.2(MEGF10):c.*3669C>A rs886059879
NM_001256545.2(MEGF10):c.*3865T>C rs1766546392
NM_001256545.2(MEGF10):c.*3868G>A rs886059881
NM_001256545.2(MEGF10):c.*551G>A rs1025283407
NM_001256545.2(MEGF10):c.-197T>C rs886059860
NM_001256545.2(MEGF10):c.-96A>C rs886059861
NM_001256545.2(MEGF10):c.1007G>A (p.Ser336Asn) rs1554098971
NM_001256545.2(MEGF10):c.1012G>C (p.Ala338Pro) rs568794084
NM_001256545.2(MEGF10):c.1012_1013delinsAA (p.Ala338Lys) rs1764513317
NM_001256545.2(MEGF10):c.1036G>A (p.Ala346Thr) rs1764515080
NM_001256545.2(MEGF10):c.1041C>T (p.Gly347=)
NM_001256545.2(MEGF10):c.1070A>G (p.Glu357Gly) rs1353722744
NM_001256545.2(MEGF10):c.1124C>T (p.Thr375Ile)
NM_001256545.2(MEGF10):c.1128T>A (p.His376Gln) rs539382353
NM_001256545.2(MEGF10):c.1130+2dup
NM_001256545.2(MEGF10):c.1136A>T (p.His379Leu) rs1764826026
NM_001256545.2(MEGF10):c.1138C>T (p.Pro380Ser)
NM_001256545.2(MEGF10):c.1168G>T (p.Gly390Cys) rs1289662592
NM_001256545.2(MEGF10):c.1169G>C (p.Gly390Ala)
NM_001256545.2(MEGF10):c.116G>C (p.Ser39Thr) rs1561575721
NM_001256545.2(MEGF10):c.117-13C>G rs965709177
NM_001256545.2(MEGF10):c.117-3C>T rs1166247376
NM_001256545.2(MEGF10):c.1177G>A (p.Gly393Arg)
NM_001256545.2(MEGF10):c.1178G>A (p.Gly393Glu)
NM_001256545.2(MEGF10):c.1187G>A (p.Cys396Tyr)
NM_001256545.2(MEGF10):c.1199G>A (p.Cys400Tyr) rs2126967674
NM_001256545.2(MEGF10):c.1204C>G (p.Pro402Ala) rs2126967681
NM_001256545.2(MEGF10):c.1207G>A (p.Gly403Arg) rs1431165906
NM_001256545.2(MEGF10):c.1214A>G (p.Tyr405Cys)
NM_001256545.2(MEGF10):c.1282T>A (p.Cys428Ser)
NM_001256545.2(MEGF10):c.1300T>G (p.Phe434Val) rs1764833861
NM_001256545.2(MEGF10):c.1343A>G (p.Tyr448Cys) rs1438771856
NM_001256545.2(MEGF10):c.1363C>T (p.Arg455Cys)
NM_001256545.2(MEGF10):c.1369G>A (p.Gly457Ser)
NM_001256545.2(MEGF10):c.1391G>A (p.Cys464Tyr) rs1174965174
NM_001256545.2(MEGF10):c.1424C>T (p.Ala475Val) rs1580846493
NM_001256545.2(MEGF10):c.1426+3A>T rs191468697
NM_001256545.2(MEGF10):c.1433A>T (p.His478Leu) rs1764932467
NM_001256545.2(MEGF10):c.1444T>C (p.Cys482Arg)
NM_001256545.2(MEGF10):c.1460C>G (p.Pro487Arg) rs376778102
NM_001256545.2(MEGF10):c.149A>G (p.His50Arg)
NM_001256545.2(MEGF10):c.1517C>G (p.Ala506Gly) rs1764939557
NM_001256545.2(MEGF10):c.1533C>A (p.Asp511Glu)
NM_001256545.2(MEGF10):c.1533C>G (p.Asp511Glu) rs151266058
NM_001256545.2(MEGF10):c.1534G>A (p.Gly512Arg) rs758236594
NM_001256545.2(MEGF10):c.1540T>A (p.Cys514Ser) rs2126973506
NM_001256545.2(MEGF10):c.1552C>T (p.Pro518Ser)
NM_001256545.2(MEGF10):c.1562G>C (p.Arg521Pro) rs762636054
NM_001256545.2(MEGF10):c.1576G>A (p.Glu526Lys) rs752944860
NM_001256545.2(MEGF10):c.157G>T (p.Asp53Tyr)
NM_001256545.2(MEGF10):c.1598C>A (p.Thr533Lys) rs150043761
NM_001256545.2(MEGF10):c.1598C>T (p.Thr533Met) rs150043761
NM_001256545.2(MEGF10):c.160C>A (p.Gln54Lys) rs1761581164
NM_001256545.2(MEGF10):c.1622G>A (p.Arg541His) rs142664089
NM_001256545.2(MEGF10):c.1657A>C (p.Thr553Pro)
NM_001256545.2(MEGF10):c.1673G>A (p.Arg558His) rs182243856
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu) rs182243856
NM_001256545.2(MEGF10):c.1685G>A (p.Gly562Glu) rs2126979792
NM_001256545.2(MEGF10):c.1687T>C (p.Trp563Arg) rs1580851905
NM_001256545.2(MEGF10):c.1694-3C>G rs2126999832
NM_001256545.2(MEGF10):c.1722G>C (p.Glu574Asp)
NM_001256545.2(MEGF10):c.1727G>A (p.Arg576His) rs201832505
NM_001256545.2(MEGF10):c.1727G>T (p.Arg576Leu) rs201832505
NM_001256545.2(MEGF10):c.1738A>G (p.Asn580Asp)
NM_001256545.2(MEGF10):c.173C>T (p.Thr58Met)
NM_001256545.2(MEGF10):c.1771G>A (p.Ala591Thr)
NM_001256545.2(MEGF10):c.1774T>A (p.Ser592Thr)
NM_001256545.2(MEGF10):c.1792G>C (p.Gly598Arg)
NM_001256545.2(MEGF10):c.1841T>A (p.Ile614Asn)
NM_001256545.2(MEGF10):c.1846T>A (p.Ser616Thr)
NM_001256545.2(MEGF10):c.1847C>T (p.Ser616Phe)
NM_001256545.2(MEGF10):c.1849C>T (p.Pro617Ser) rs752036559
NM_001256545.2(MEGF10):c.1856T>C (p.Phe619Ser)
NM_001256545.2(MEGF10):c.185A>G (p.Asp62Gly)
NM_001256545.2(MEGF10):c.1867C>T (p.Arg623Cys) rs756234600
NM_001256545.2(MEGF10):c.1907G>A (p.Gly636Glu) rs1765500413
NM_001256545.2(MEGF10):c.1910C>A (p.Pro637His) rs1580866586
NM_001256545.2(MEGF10):c.1910C>T (p.Pro637Leu) rs1580866586
NM_001256545.2(MEGF10):c.1958G>A (p.Gly653Asp)
NM_001256545.2(MEGF10):c.195C>G (p.Asn65Lys)
NM_001256545.2(MEGF10):c.1972G>A (p.Glu658Lys) rs1765502480
NM_001256545.2(MEGF10):c.1975G>C (p.Val659Leu) rs1580866706
NM_001256545.2(MEGF10):c.1976-9T>G rs759695616
NM_001256545.2(MEGF10):c.197G>T (p.Trp66Leu)
NM_001256545.2(MEGF10):c.1999A>G (p.Lys667Glu)
NM_001256545.2(MEGF10):c.2000A>G (p.Lys667Arg) rs2127003826
NM_001256545.2(MEGF10):c.2026A>G (p.Thr676Ala) rs1580867525
NM_001256545.2(MEGF10):c.2029A>G (p.Asn677Asp)
NM_001256545.2(MEGF10):c.2031C>A (p.Asn677Lys)
NM_001256545.2(MEGF10):c.2033A>C (p.Asn678Thr) rs1765522424
NM_001256545.2(MEGF10):c.2057G>T (p.Arg686Ile) rs1448285273
NM_001256545.2(MEGF10):c.2065C>A (p.Gln689Lys) rs1765523490
NM_001256545.2(MEGF10):c.2086G>A (p.Gly696Ser)
NM_001256545.2(MEGF10):c.2179T>C (p.Tyr727His) rs1765638849
NM_001256545.2(MEGF10):c.2187G>A (p.Gly729=)
NM_001256545.2(MEGF10):c.219-3T>C rs1357482042
NM_001256545.2(MEGF10):c.2211G>C (p.Trp737Cys) rs1765640354
NM_001256545.2(MEGF10):c.2227A>G (p.Thr743Ala) rs1423139586
NM_001256545.2(MEGF10):c.2281T>C (p.Cys761Arg) rs1765727854
NM_001256545.2(MEGF10):c.2284C>A (p.Gln762Lys) rs886059864
NM_001256545.2(MEGF10):c.2302G>A (p.Asp768Asn)
NM_001256545.2(MEGF10):c.2323A>G (p.Thr775Ala)
NM_001256545.2(MEGF10):c.2330G>T (p.Arg777Leu) rs565304206
NM_001256545.2(MEGF10):c.2333C>G (p.Thr778Ser) rs1419621714
NM_001256545.2(MEGF10):c.2338T>C (p.Phe780Leu)
NM_001256545.2(MEGF10):c.2341A>T (p.Met781Leu)
NM_001256545.2(MEGF10):c.2351A>G (p.His784Arg)
NM_001256545.2(MEGF10):c.2410T>A (p.Cys804Ser) rs2127019985
NM_001256545.2(MEGF10):c.2424C>T (p.Ser808=) rs1765815351
NM_001256545.2(MEGF10):c.2431G>A (p.Asp811Asn) rs1554102007
NM_001256545.2(MEGF10):c.2431G>C (p.Asp811His) rs1554102007
NM_001256545.2(MEGF10):c.2464G>A (p.Gly822Arg) rs1280125525
NM_001256545.2(MEGF10):c.2467T>A (p.Trp823Arg) rs1402417139
NM_001256545.2(MEGF10):c.2476G>A (p.Ala826Thr)
NM_001256545.2(MEGF10):c.2482T>A (p.Cys828Ser)
NM_001256545.2(MEGF10):c.2495G>C (p.Gly832Ala) rs1765907936
NM_001256545.2(MEGF10):c.2531G>C (p.Arg844Pro) rs138372925
NM_001256545.2(MEGF10):c.2539A>C (p.Thr847Pro) rs1765909921
NM_001256545.2(MEGF10):c.2566A>G (p.Ile856Val) rs1765910939
NM_001256545.2(MEGF10):c.2566A>T (p.Ile856Phe) rs1765910939
NM_001256545.2(MEGF10):c.2570G>C (p.Gly857Ala) rs1580880208
NM_001256545.2(MEGF10):c.2582G>A (p.Gly861Asp)
NM_001256545.2(MEGF10):c.2632A>G (p.Ile878Val)
NM_001256545.2(MEGF10):c.2636A>G (p.Tyr879Cys) rs1765915785
NM_001256545.2(MEGF10):c.2674G>A (p.Ala892Thr)
NM_001256545.2(MEGF10):c.2677G>A (p.Val893Ile)
NM_001256545.2(MEGF10):c.267G>T (p.Arg89Ser) rs368073107
NM_001256545.2(MEGF10):c.2687C>A (p.Thr896Asn)
NM_001256545.2(MEGF10):c.2687C>T (p.Thr896Ile) rs1218321550
NM_001256545.2(MEGF10):c.268C>A (p.Arg90Ser)
NM_001256545.2(MEGF10):c.268C>T (p.Arg90Cys)
NM_001256545.2(MEGF10):c.2704G>T (p.Val902Phe) rs138034219
NM_001256545.2(MEGF10):c.2707A>C (p.Asn903His) rs1580880504
NM_001256545.2(MEGF10):c.2743A>C (p.Ser915Arg) rs1387603431
NM_001256545.2(MEGF10):c.2747A>G (p.Asn916Ser)
NM_001256545.2(MEGF10):c.2762A>G (p.Asn921Ser) rs79861077
NM_001256545.2(MEGF10):c.2785A>G (p.Ser929Gly)
NM_001256545.2(MEGF10):c.2810C>T (p.Ala937Val) rs886059865
NM_001256545.2(MEGF10):c.2812A>G (p.Thr938Ala)
NM_001256545.2(MEGF10):c.2821C>T (p.His941Tyr)
NM_001256545.2(MEGF10):c.2838C>A (p.Asp946Glu)
NM_001256545.2(MEGF10):c.2841G>C (p.Arg947Ser)
NM_001256545.2(MEGF10):c.2842A>C (p.Met948Leu) rs1209069765
NM_001256545.2(MEGF10):c.2852C>G (p.Thr951Arg) rs755639288
NM_001256545.2(MEGF10):c.2852C>T (p.Thr951Met) rs755639288
NM_001256545.2(MEGF10):c.2857-14T>A
NM_001256545.2(MEGF10):c.2870A>G (p.Gln957Arg) rs1766057687
NM_001256545.2(MEGF10):c.2878G>A (p.Val960Met)
NM_001256545.2(MEGF10):c.2900C>T (p.Pro967Leu) rs1474577162
NM_001256545.2(MEGF10):c.2930C>T (p.Thr977Ile) rs1209092369
NM_001256545.2(MEGF10):c.2974G>A (p.Glu992Lys) rs753902803
NM_001256545.2(MEGF10):c.2979C>T (p.Leu993=)
NM_001256545.2(MEGF10):c.2998A>G (p.Arg1000Gly)
NM_001256545.2(MEGF10):c.3003C>G (p.Ser1001Arg) rs35159176
NM_001256545.2(MEGF10):c.3005A>G (p.Tyr1002Cys) rs566716623
NM_001256545.2(MEGF10):c.3034A>G (p.Lys1012Glu)
NM_001256545.2(MEGF10):c.3122C>T (p.Pro1041Leu)
NM_001256545.2(MEGF10):c.3151A>G (p.Met1051Val)
NM_001256545.2(MEGF10):c.3161C>T (p.Pro1054Leu)
NM_001256545.2(MEGF10):c.3172G>A (p.Asp1058Asn)
NM_001256545.2(MEGF10):c.3182A>G (p.Tyr1061Cys) rs2127046001
NM_001256545.2(MEGF10):c.3194A>G (p.Asn1065Ser) rs770189857
NM_001256545.2(MEGF10):c.3228_3232+4del
NM_001256545.2(MEGF10):c.3232+1G>A
NM_001256545.2(MEGF10):c.3239C>G (p.Thr1080Arg) rs1018024748
NM_001256545.2(MEGF10):c.3241G>A (p.Val1081Met) rs202070491
NM_001256545.2(MEGF10):c.3244A>C (p.Ser1082Arg)
NM_001256545.2(MEGF10):c.3245G>C (p.Ser1082Thr)
NM_001256545.2(MEGF10):c.3266G>A (p.Ser1089Asn)
NM_001256545.2(MEGF10):c.3312C>A (p.Asn1104Lys)
NM_001256545.2(MEGF10):c.3322C>T (p.Pro1108Ser)
NM_001256545.2(MEGF10):c.3331T>C (p.Tyr1111His) rs1064795277
NM_001256545.2(MEGF10):c.3374A>G (p.Gln1125Arg)
NM_001256545.2(MEGF10):c.3387_3388delinsAA (p.Gly1130Ser) rs1766400841
NM_001256545.2(MEGF10):c.3392G>C (p.Ser1131Thr)
NM_001256545.2(MEGF10):c.3405C>A (p.Ser1135Arg) rs1766402692
NM_001256545.2(MEGF10):c.344A>G (p.His115Arg)
NM_001256545.2(MEGF10):c.349C>T (p.Arg117Cys)
NM_001256545.2(MEGF10):c.3G>T (p.Met1Ile)
NM_001256545.2(MEGF10):c.424G>T (p.Asp142Tyr) rs779874582
NM_001256545.2(MEGF10):c.451C>G (p.Arg151Gly) rs767672691
NM_001256545.2(MEGF10):c.461G>T (p.Cys154Phe) rs1763921776
NM_001256545.2(MEGF10):c.470G>A (p.Gly157Glu)
NM_001256545.2(MEGF10):c.472G>A (p.Ala158Thr) rs1287636458
NM_001256545.2(MEGF10):c.476T>C (p.Leu159Pro) rs2126921767
NM_001256545.2(MEGF10):c.484C>G (p.Pro162Ala)
NM_001256545.2(MEGF10):c.485C>G (p.Pro162Arg) rs2126921820
NM_001256545.2(MEGF10):c.493G>A (p.Gly165Arg)
NM_001256545.2(MEGF10):c.493G>C (p.Gly165Arg) rs765084824
NM_001256545.2(MEGF10):c.505T>G (p.Cys169Gly) rs1223549168
NM_001256545.2(MEGF10):c.533G>T (p.Cys178Phe) rs2126922023
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) rs377547826
NM_001256545.2(MEGF10):c.542G>T (p.Arg181Leu)
NM_001256545.2(MEGF10):c.557C>G (p.Thr186Ser)
NM_001256545.2(MEGF10):c.568G>A (p.Asp190Asn) rs756704626
NM_001256545.2(MEGF10):c.572G>A (p.Cys191Tyr) rs1012722382
NM_001256545.2(MEGF10):c.578A>G (p.Gln193Arg)
NM_001256545.2(MEGF10):c.581G>A (p.Arg194Lys) rs1023202749
NM_001256545.2(MEGF10):c.622G>A (p.Gly208Arg)
NM_001256545.2(MEGF10):c.689A>G (p.His230Arg) rs776233986
NM_001256545.2(MEGF10):c.68C>A (p.Ala23Glu)
NM_001256545.2(MEGF10):c.690T>A (p.His230Gln)
NM_001256545.2(MEGF10):c.700T>A (p.Cys234Ser) rs1156618898
NM_001256545.2(MEGF10):c.706C>A (p.Gln236Lys)
NM_001256545.2(MEGF10):c.733G>A (p.Val245Met) rs755790851
NM_001256545.2(MEGF10):c.740A>G (p.His247Arg) rs767932327
NM_001256545.2(MEGF10):c.743A>G (p.His248Arg) rs1286512106
NM_001256545.2(MEGF10):c.755A>G (p.Glu252Gly) rs779137178
NM_001256545.2(MEGF10):c.769T>C (p.Ser257Pro) rs1482140533
NM_001256545.2(MEGF10):c.778A>C (p.Met260Leu) rs1764021167
NM_001256545.2(MEGF10):c.806C>T (p.Pro269Leu) rs1427203192
NM_001256545.2(MEGF10):c.814C>T (p.Arg272Cys) rs748380473
NM_001256545.2(MEGF10):c.815G>A (p.Arg272His)
NM_001256545.2(MEGF10):c.871G>A (p.Ala291Thr) rs893376574
NM_001256545.2(MEGF10):c.878C>T (p.Thr293Ile)
NM_001256545.2(MEGF10):c.88G>C (p.Asp30His) rs1761253902
NM_001256545.2(MEGF10):c.917G>C (p.Arg306Pro)
NM_001256545.2(MEGF10):c.926A>T (p.Asp309Val) rs1764508104
NM_001256545.2(MEGF10):c.944C>T (p.Thr315Ile) rs1727704535
NM_001256545.2(MEGF10):c.954T>C (p.Val318=) rs1580833127
NM_001256545.2(MEGF10):c.956T>C (p.Leu319Pro) rs991317565
NM_001256545.2(MEGF10):c.966G>C (p.Glu322Asp)
NM_001256545.2(MEGF10):c.980T>C (p.Val327Ala)
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001267052.2(UNC45B):c.2293G>A (p.Glu765Lys)
NM_001267052.2(UNC45B):c.73G>A (p.Ala25Thr)
NM_001267550.2(TTN):c.*274G>A rs886055215
NM_001267550.2(TTN):c.*913C>A rs886055213
NM_001267550.2(TTN):c.-225G>A rs886055312
NM_001267550.2(TTN):c.-38T>G rs886055309
NM_001267550.2(TTN):c.-76A>G rs1575064539
NM_001267550.2(TTN):c.100060G>C (p.Val33354Leu) rs879221791
NM_001267550.2(TTN):c.100133T>G (p.Leu33378Arg) rs1060500454
NM_001267550.2(TTN):c.100171+3G>A
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100194A>T (p.Lys33398Asn) rs1060500553
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100436G>A (p.Ser33479Asn) rs1553501815
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro) rs373484505
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.100771G>A (p.Ala33591Thr)
NM_001267550.2(TTN):c.100779A>G (p.Ile33593Met)
NM_001267550.2(TTN):c.100786C>T (p.Pro33596Ser) rs927922351
NM_001267550.2(TTN):c.100787C>T (p.Pro33596Leu)
NM_001267550.2(TTN):c.100790A>G (p.Lys33597Arg)
NM_001267550.2(TTN):c.100793C>T (p.Thr33598Ile)
NM_001267550.2(TTN):c.100796T>C (p.Leu33599Pro) rs775361062
NM_001267550.2(TTN):c.100800A>C (p.Glu33600Asp) rs1575299834
NM_001267550.2(TTN):c.100804A>G (p.Met33602Val) rs759368043
NM_001267550.2(TTN):c.100811C>T (p.Ala33604Val)
NM_001267550.2(TTN):c.100820C>T (p.Ala33607Val)
NM_001267550.2(TTN):c.100829G>T (p.Gly33610Val) rs373754986
NM_001267550.2(TTN):c.100832A>T (p.Glu33611Val) rs2154136906
NM_001267550.2(TTN):c.100850T>C (p.Ile33617Thr)
NM_001267550.2(TTN):c.100858A>C (p.Ser33620Arg) rs1553500669
NM_001267550.2(TTN):c.100874C>G (p.Pro33625Arg)
NM_001267550.2(TTN):c.100880T>C (p.Ile33627Thr) rs1553500627
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile) rs200085900
NM_001267550.2(TTN):c.100900G>T (p.Asp33634Tyr) rs1691138917
NM_001267550.2(TTN):c.100907T>C (p.Ile33636Thr)
NM_001267550.2(TTN):c.100919G>T (p.Gly33640Val)
NM_001267550.2(TTN):c.100921C>T (p.His33641Tyr) rs1357251504
NM_001267550.2(TTN):c.100923C>G (p.His33641Gln) rs1691127745
NM_001267550.2(TTN):c.100933A>T (p.Ile33645Phe)
NM_001267550.2(TTN):c.100934T>C (p.Ile33645Thr)
NM_001267550.2(TTN):c.100936G>A (p.Val33646Ile)
NM_001267550.2(TTN):c.100957C>T (p.Leu33653Phe) rs1178063403
NM_001267550.2(TTN):c.100958T>C (p.Leu33653Pro) rs1691110010
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser) rs769340667
NM_001267550.2(TTN):c.100973G>C (p.Gly33658Ala) rs2154136811
NM_001267550.2(TTN):c.100976T>C (p.Val33659Ala) rs2154136807
NM_001267550.2(TTN):c.100980G>C (p.Glu33660Asp) rs727503536
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.100994G>A (p.Gly33665Asp)
NM_001267550.2(TTN):c.101003T>C (p.Val33668Ala) rs372534712
NM_001267550.2(TTN):c.101008T>C (p.Cys33670Arg) rs1575296634
NM_001267550.2(TTN):c.101009G>A (p.Cys33670Tyr) rs749219080
NM_001267550.2(TTN):c.101011G>A (p.Ala33671Thr)
NM_001267550.2(TTN):c.101012C>T (p.Ala33671Val)
NM_001267550.2(TTN):c.101021G>C (p.Arg33674Thr)
NM_001267550.2(TTN):c.101030T>C (p.Ile33677Thr)
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu) rs886055226
NM_001267550.2(TTN):c.101045T>C (p.Val33682Ala)
NM_001267550.2(TTN):c.101047G>A (p.Glu33683Lys)
NM_001267550.2(TTN):c.101050C>A (p.Leu33684Met)
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val) rs775824162
NM_001267550.2(TTN):c.101053G>A (p.Asp33685Asn) rs1575295828
NM_001267550.2(TTN):c.101055T>A (p.Asp33685Glu)
NM_001267550.2(TTN):c.101056G>A (p.Val33686Met)
NM_001267550.2(TTN):c.101060C>G (p.Ala33687Gly)
NM_001267550.2(TTN):c.101062G>T (p.Asp33688Tyr)
NM_001267550.2(TTN):c.101068C>A (p.Pro33690Thr) rs886055225
NM_001267550.2(TTN):c.101068C>G (p.Pro33690Ala)
NM_001267550.2(TTN):c.101075C>G (p.Pro33692Arg)
NM_001267550.2(TTN):c.101081G>A (p.Arg33694Lys) rs747732590
NM_001267550.2(TTN):c.101084G>A (p.Gly33695Glu) rs1553499879
NM_001267550.2(TTN):c.101090A>C (p.Lys33697Thr) rs1691033741
NM_001267550.2(TTN):c.101117T>C (p.Val33706Ala) rs1261733710
NM_001267550.2(TTN):c.10112C>T (p.Thr3371Ile) rs1060500429
NM_001267550.2(TTN):c.101130G>T (p.Trp33710Cys)
NM_001267550.2(TTN):c.101134G>A (p.Glu33712Lys)
NM_001267550.2(TTN):c.101136G>C (p.Glu33712Asp) rs1060503937
NM_001267550.2(TTN):c.101137C>T (p.Pro33713Ser)
NM_001267550.2(TTN):c.10114+5G>T rs115985443
NM_001267550.2(TTN):c.101140G>C (p.Ala33714Pro)
NM_001267550.2(TTN):c.101143T>C (p.Ser33715Pro)
NM_001267550.2(TTN):c.101146G>A (p.Asp33716Asn)
NM_001267550.2(TTN):c.10115-6T>C rs886055298
NM_001267550.2(TTN):c.101153G>A (p.Gly33718Asp)
NM_001267550.2(TTN):c.101155A>T (p.Ser33719Cys) rs2154136682
NM_001267550.2(TTN):c.101174T>C (p.Ile33725Thr)
NM_001267550.2(TTN):c.101179G>C (p.Glu33727Gln)
NM_001267550.2(TTN):c.101184A>T (p.Lys33728Asn)
NM_001267550.2(TTN):c.101191A>G (p.Thr33731Ala) rs746383312
NM_001267550.2(TTN):c.101194A>G (p.Thr33732Ala) rs1690986189
NM_001267550.2(TTN):c.101195C>T (p.Thr33732Ile)
NM_001267550.2(TTN):c.101200G>C (p.Glu33734Gln)
NM_001267550.2(TTN):c.101206T>G (p.Trp33736Gly) rs1690982138
NM_001267550.2(TTN):c.101209C>T (p.Leu33737Phe)
NM_001267550.2(TTN):c.101233A>G (p.Thr33745Ala)
NM_001267550.2(TTN):c.101233A>T (p.Thr33745Ser) rs1690964903
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro) rs1575292990
NM_001267550.2(TTN):c.101248A>T (p.Ile33750Phe) rs1690954165
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
NM_001267550.2(TTN):c.101256_101258del (p.Leu33752del) rs1690948347
NM_001267550.2(TTN):c.101258T>C (p.Phe33753Ser)
NM_001267550.2(TTN):c.101291C>G (p.Ala33764Gly) rs773542514
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101305_101306delinsTC (p.Gly33769Ser)
NM_001267550.2(TTN):c.101306G>A (p.Gly33769Asp) rs1553499045
NM_001267550.2(TTN):c.101323G>A (p.Glu33775Lys) rs1690927632
NM_001267550.2(TTN):c.101330C>T (p.Ser33777Leu)
NM_001267550.2(TTN):c.101339C>T (p.Thr33780Ile) rs2154136558
NM_001267550.2(TTN):c.101341A>G (p.Ile33781Val)
NM_001267550.2(TTN):c.101350G>C (p.Glu33784Gln)
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
NM_001267550.2(TTN):c.101355T>A (p.Asp33785Glu)
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys) rs876658097
NM_001267550.2(TTN):c.101374T>C (p.Tyr33792His)
NM_001267550.2(TTN):c.101377G>A (p.Asp33793Asn)
NM_001267550.2(TTN):c.101396C>G (p.Thr33799Ser)
NM_001267550.2(TTN):c.101401G>C (p.Glu33801Gln)
NM_001267550.2(TTN):c.101405T>G (p.Val33802Gly)
NM_001267550.2(TTN):c.101407T>A (p.Ser33803Thr)
NM_001267550.2(TTN):c.101411T>A (p.Met33804Lys)
NM_001267550.2(TTN):c.101417A>C (p.Lys33806Thr)
NM_001267550.2(TTN):c.101420C>T (p.Ala33807Val) rs1351679447
NM_001267550.2(TTN):c.101446T>C (p.Tyr33816His)
NM_001267550.2(TTN):c.101447A>T (p.Tyr33816Phe) rs2154136483
NM_001267550.2(TTN):c.101454A>C (p.Lys33818Asn)
NM_001267550.2(TTN):c.101459T>C (p.Met33820Thr)
NM_001267550.2(TTN):c.101472T>A (p.Asp33824Glu) rs1575290013
NM_001267550.2(TTN):c.101473C>G (p.Leu33825Val)
NM_001267550.2(TTN):c.101476G>C (p.Gly33826Arg)
NM_001267550.2(TTN):c.101479C>A (p.Arg33827Ser)
NM_001267550.2(TTN):c.101483G>A (p.Gly33828Asp)
NM_001267550.2(TTN):c.101486A>T (p.Glu33829Val)
NM_001267550.2(TTN):c.101489T>C (p.Phe33830Ser)
NM_001267550.2(TTN):c.101500C>T (p.His33834Tyr)
NM_001267550.2(TTN):c.101503C>A (p.Arg33835Ser) rs781516399
NM_001267550.2(TTN):c.101506_101508del (p.Cys33836del) rs1690847769
NM_001267550.2(TTN):c.101521T>C (p.Ser33841Pro)
NM_001267550.2(TTN):c.101528A>C (p.Lys33843Thr) rs1690840610
NM_001267550.2(TTN):c.101533T>A (p.Tyr33845Asn)
NM_001267550.2(TTN):c.101533T>C (p.Tyr33845His) rs1227515280
NM_001267550.2(TTN):c.101538G>A (p.Met33846Ile) rs1690830241
NM_001267550.2(TTN):c.101543A>G (p.Lys33848Arg)
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val) rs1690813389
NM_001267550.2(TTN):c.101573T>C (p.Val33858Ala) rs1172459056
NM_001267550.2(TTN):c.101576T>G (p.Leu33859Trp)
NM_001267550.2(TTN):c.101590A>G (p.Ile33864Val)
NM_001267550.2(TTN):c.101591T>C (p.Ile33864Thr)
NM_001267550.2(TTN):c.101596A>C (p.Ile33866Leu)
NM_001267550.2(TTN):c.101609C>G (p.Ala33870Gly)
NM_001267550.2(TTN):c.101612G>A (p.Arg33871Lys)
NM_001267550.2(TTN):c.101613G>T (p.Arg33871Ser)
NM_001267550.2(TTN):c.101614C>A (p.His33872Asn) rs1690791818
NM_001267550.2(TTN):c.101629C>A (p.His33877Asn) rs1690786587
NM_001267550.2(TTN):c.101629C>T (p.His33877Tyr) rs1690786587
NM_001267550.2(TTN):c.101632C>T (p.Leu33878Phe)
NM_001267550.2(TTN):c.101635C>T (p.His33879Tyr)
NM_001267550.2(TTN):c.101636A>G (p.His33879Arg)
NM_001267550.2(TTN):c.101645T>C (p.Phe33882Ser)
NM_001267550.2(TTN):c.101665G>C (p.Val33889Leu) rs34924609
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.101675T>C (p.Phe33892Ser) rs1275405365
NM_001267550.2(TTN):c.101683A>G (p.Ile33895Val)
NM_001267550.2(TTN):c.101685A>G (p.Ile33895Met) rs2154136307
NM_001267550.2(TTN):c.101692C>G (p.Leu33898Val)
NM_001267550.2(TTN):c.101692C>T (p.Leu33898Phe) rs371930491
NM_001267550.2(TTN):c.101693T>C (p.Leu33898Pro) rs1575286611
NM_001267550.2(TTN):c.101696A>G (p.Asp33899Gly) rs794729560
NM_001267550.2(TTN):c.101704G>A (p.Glu33902Lys)
NM_001267550.2(TTN):c.101706G>C (p.Glu33902Asp) rs1559042152
NM_001267550.2(TTN):c.101707C>G (p.Arg33903Gly) rs772574722
NM_001267550.2(TTN):c.101708G>T (p.Arg33903Leu)
NM_001267550.2(TTN):c.101732T>G (p.Leu33911Arg) rs2154136272
NM_001267550.2(TTN):c.101737G>A (p.Glu33913Lys)
NM_001267550.2(TTN):c.101747T>C (p.Ile33916Thr) rs2154136265
NM_001267550.2(TTN):c.101747T>G (p.Ile33916Ser)
NM_001267550.2(TTN):c.101752A>G (p.Ser33918Gly)
NM_001267550.2(TTN):c.101754T>G (p.Ser33918Arg) rs952080555
NM_001267550.2(TTN):c.101761C>T (p.His33921Tyr)
NM_001267550.2(TTN):c.101766G>T (p.Gln33922His)
NM_001267550.2(TTN):c.101768T>C (p.Val33923Ala)
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile) rs752227022
NM_001267550.2(TTN):c.101792A>G (p.His33931Arg)
NM_001267550.2(TTN):c.101800A>G (p.Asn33934Asp)
NM_001267550.2(TTN):c.101804T>C (p.Ile33935Thr)
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
NM_001267550.2(TTN):c.101825C>T (p.Pro33942Leu)
NM_001267550.2(TTN):c.101830A>T (p.Asn33944Tyr)
NM_001267550.2(TTN):c.101831A>G (p.Asn33944Ser) rs2154136201
NM_001267550.2(TTN):c.101833A>G (p.Ile33945Val)
NM_001267550.2(TTN):c.101837T>C (p.Ile33946Thr)
NM_001267550.2(TTN):c.101845A>G (p.Thr33949Ala)
NM_001267550.2(TTN):c.101850A>C (p.Arg33950Ser)
NM_001267550.2(TTN):c.101870T>C (p.Ile33957Thr)
NM_001267550.2(TTN):c.101882G>A (p.Gly33961Asp)
NM_001267550.2(TTN):c.101887G>A (p.Ala33963Thr)
NM_001267550.2(TTN):c.101888C>T (p.Ala33963Val) rs2154136158
NM_001267550.2(TTN):c.101902C>A (p.Pro33968Thr)
NM_001267550.2(TTN):c.101905G>T (p.Gly33969Trp)
NM_001267550.2(TTN):c.101911A>C (p.Asn33971His) rs2154136145
NM_001267550.2(TTN):c.101912A>T (p.Asn33971Ile) rs1553497184
NM_001267550.2(TTN):c.101945A>G (p.Tyr33982Cys)
NM_001267550.2(TTN):c.101947_101948delinsAA (p.Ala33983Lys) rs1690652304
NM_001267550.2(TTN):c.101948C>T (p.Ala33983Val) rs1553497101
NM_001267550.2(TTN):c.101950C>G (p.Pro33984Ala)
NM_001267550.2(TTN):c.101951C>G (p.Pro33984Arg)
NM_001267550.2(TTN):c.101959C>T (p.His33987Tyr)
NM_001267550.2(TTN):c.101964G>C (p.Gln33988His)
NM_001267550.2(TTN):c.101971G>A (p.Val33991Ile)
NM_001267550.2(TTN):c.101971G>T (p.Val33991Phe)
NM_001267550.2(TTN):c.101972T>A (p.Val33991Asp)
NM_001267550.2(TTN):c.101978G>A (p.Ser33993Asn)
NM_001267550.2(TTN):c.101986A>G (p.Thr33996Ala) rs1690632346
NM_001267550.2(TTN):c.101993T>C (p.Met33998Thr) rs1559039438
NM_001267550.2(TTN):c.101997G>C (p.Trp33999Cys) rs764821435
NM_001267550.2(TTN):c.102002T>C (p.Leu34001Pro) rs2154136066
NM_001267550.2(TTN):c.102005G>A (p.Gly34002Glu)
NM_001267550.2(TTN):c.102013G>A (p.Val34005Ile) rs1690621219
NM_001267550.2(TTN):c.102020T>C (p.Val34007Ala)
NM_001267550.2(TTN):c.102038A>C (p.Asn34013Thr) rs1559038960
NM_001267550.2(TTN):c.102040C>T (p.Pro34014Ser)
NM_001267550.2(TTN):c.102041C>A (p.Pro34014Gln)
NM_001267550.2(TTN):c.102043T>C (p.Phe34015Leu)
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
NM_001267550.2(TTN):c.102071T>C (p.Ile34024Thr)
NM_001267550.2(TTN):c.102073G>A (p.Glu34025Lys)
NM_001267550.2(TTN):c.102085A>C (p.Asn34029His) rs1690593497
NM_001267550.2(TTN):c.102087T>A (p.Asn34029Lys) rs1690590871
NM_001267550.2(TTN):c.102094T>A (p.Tyr34032Asn)
NM_001267550.2(TTN):c.102097A>G (p.Thr34033Ala)
NM_001267550.2(TTN):c.102106G>A (p.Glu34036Lys)
NM_001267550.2(TTN):c.102112G>A (p.Ala34038Thr) rs1690579265
NM_001267550.2(TTN):c.102115T>C (p.Phe34039Leu) rs1178807411
NM_001267550.2(TTN):c.102118A>G (p.Lys34040Glu)
NM_001267550.2(TTN):c.102126T>G (p.Ile34042Met)
NM_001267550.2(TTN):c.102129C>A (p.Ser34043Arg) rs2154135970
NM_001267550.2(TTN):c.102130A>C (p.Ile34044Leu) rs1690568887
NM_001267550.2(TTN):c.102130A>G (p.Ile34044Val)
NM_001267550.2(TTN):c.102131T>C (p.Ile34044Thr)
NM_001267550.2(TTN):c.102140T>C (p.Met34047Thr) rs745563787
NM_001267550.2(TTN):c.102140T>G (p.Met34047Arg)
NM_001267550.2(TTN):c.102142G>T (p.Asp34048Tyr)
NM_001267550.2(TTN):c.102148G>A (p.Val34050Ile) rs1575280335
NM_001267550.2(TTN):c.102152A>T (p.Asp34051Val)
NM_001267550.2(TTN):c.102154C>T (p.Arg34052Trp) rs756924372
NM_001267550.2(TTN):c.102171G>C (p.Glu34057Asp)
NM_001267550.2(TTN):c.102174G>C (p.Arg34058Ser)
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro) rs1690528772
NM_001267550.2(TTN):c.102202C>T (p.Leu34068Phe) rs999356407
NM_001267550.2(TTN):c.102212C>G (p.Pro34071Arg)
NM_001267550.2(TTN):c.102221A>G (p.Lys34074Arg)
NM_001267550.2(TTN):c.102222G>C (p.Lys34074Asn)
NM_001267550.2(TTN):c.102223C>G (p.Gln34075Glu)
NM_001267550.2(TTN):c.102230T>C (p.Ile34077Thr) rs1290306844
NM_001267550.2(TTN):c.102232_102233inv (p.Glu34078Ser)
NM_001267550.2(TTN):c.102233A>G (p.Glu34078Gly)
NM_001267550.2(TTN):c.102234A>T (p.Glu34078Asp) rs1043486033
NM_001267550.2(TTN):c.102237A>T (p.Arg34079Ser)
NM_001267550.2(TTN):c.102242G>C (p.Ser34081Thr) rs1690505739
NM_001267550.2(TTN):c.102245C>A (p.Thr34082Asn)
NM_001267550.2(TTN):c.102269A>C (p.His34090Pro)
NM_001267550.2(TTN):c.102269A>G (p.His34090Arg)
NM_001267550.2(TTN):c.102278A>G (p.Tyr34093Cys)
NM_001267550.2(TTN):c.102280T>C (p.Tyr34094His)
NM_001267550.2(TTN):c.102281A>C (p.Tyr34094Ser)
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn) rs375002174
NM_001267550.2(TTN):c.102293T>A (p.Ile34098Asn) rs1480810435
NM_001267550.2(TTN):c.102297G>C (p.Lys34099Asn)
NM_001267550.2(TTN):c.102304C>T (p.Leu34102Phe)
NM_001267550.2(TTN):c.102314T>A (p.Val34105Asp)
NM_001267550.2(TTN):c.102316G>C (p.Val34106Leu)
NM_001267550.2(TTN):c.102329G>C (p.Arg34110Pro) rs565347600
NM_001267550.2(TTN):c.102339T>G (p.Cys34113Trp) rs794729561
NM_001267550.2(TTN):c.102344G>A (p.Gly34115Asp) rs1342246182
NM_001267550.2(TTN):c.102355T>C (p.Ser34119Pro)
NM_001267550.2(TTN):c.102365G>T (p.Gly34122Val)
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
NM_001267550.2(TTN):c.102373G>A (p.Val34125Ile)
NM_001267550.2(TTN):c.102374T>C (p.Val34125Ala)
NM_001267550.2(TTN):c.102381A>C (p.Lys34127Asn)
NM_001267550.2(TTN):c.102391G>C (p.Ala34131Pro)
NM_001267550.2(TTN):c.102403A>G (p.Ile34135Val)
NM_001267550.2(TTN):c.102404T>C (p.Ile34135Thr) rs917268577
NM_001267550.2(TTN):c.102421C>A (p.Gln34141Lys)
NM_001267550.2(TTN):c.102423G>T (p.Gln34141His) rs1553495068
NM_001267550.2(TTN):c.102426A>G (p.Ile34142Met)
NM_001267550.2(TTN):c.102430C>T (p.His34144Tyr) rs560027565
NM_001267550.2(TTN):c.102431A>G (p.His34144Arg) rs1553495003
NM_001267550.2(TTN):c.102437T>C (p.Val34146Ala) rs1690411709
NM_001267550.2(TTN):c.102440G>A (p.Gly34147Asp)
NM_001267550.2(TTN):c.102442G>A (p.Glu34148Lys) rs1372227820
NM_001267550.2(TTN):c.102445G>C (p.Glu34149Gln)
NM_001267550.2(TTN):c.102446A>C (p.Glu34149Ala)
NM_001267550.2(TTN):c.102448G>A (p.Gly34150Arg)
NM_001267550.2(TTN):c.102452G>A (p.Gly34151Glu)
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg)
NM_001267550.2(TTN):c.102456T>A (p.His34152Gln) rs758384544
NM_001267550.2(TTN):c.102456T>G (p.His34152Gln)
NM_001267550.2(TTN):c.102458T>A (p.Val34153Asp) rs2154135691
NM_001267550.2(TTN):c.102464A>G (p.Tyr34155Cys)
NM_001267550.2(TTN):c.102469T>C (p.Cys34157Arg)
NM_001267550.2(TTN):c.102469T>G (p.Cys34157Gly)
NM_001267550.2(TTN):c.102476T>C (p.Ile34159Thr) rs1690397017
NM_001267550.2(TTN):c.102481A>T (p.Asn34161Tyr)
NM_001267550.2(TTN):c.102488A>G (p.Asp34163Gly)
NM_001267550.2(TTN):c.102491A>C (p.Gln34164Pro)
NM_001267550.2(TTN):c.102491A>G (p.Gln34164Arg)
NM_001267550.2(TTN):c.102502G>A (p.Val34168Met) rs2154135668
NM_001267550.2(TTN):c.102503T>C (p.Val34168Ala)
NM_001267550.2(TTN):c.102508T>G (p.Trp34170Gly) rs778786999
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys) rs1559033550
NM_001267550.2(TTN):c.102512A>T (p.Tyr34171Phe)
NM_001267550.2(TTN):c.102515T>C (p.Phe34172Ser)
NM_001267550.2(TTN):c.102529C>A (p.Leu34177Met)
NM_001267550.2(TTN):c.102533A>G (p.Glu34178Gly)
NM_001267550.2(TTN):c.102537C>A (p.Asn34179Lys)
NM_001267550.2(TTN):c.102538_102539inv (p.Ser34180Leu)
NM_001267550.2(TTN):c.102539G>C (p.Ser34180Thr)
NM_001267550.2(TTN):c.102540T>A (p.Ser34180Arg)
NM_001267550.2(TTN):c.102541G>A (p.Glu34181Lys) rs1559033148
NM_001267550.2(TTN):c.102545A>C (p.Lys34182Thr) rs1348175807
NM_001267550.2(TTN):c.102548A>G (p.Tyr34183Cys)
NM_001267550.2(TTN):c.102551A>C (p.Glu34184Ala) rs920777916
NM_001267550.2(TTN):c.102554T>C (p.Ile34185Thr) rs1280013764
NM_001267550.2(TTN):c.10255A>G (p.Ser3419Gly) rs1266502582
NM_001267550.2(TTN):c.10255_10256delinsGA (p.Ser3419Asp) rs2088203924
NM_001267550.2(TTN):c.102566A>T (p.Asp34189Val) rs2154135620
NM_001267550.2(TTN):c.102575C>T (p.Ala34192Val) rs1690350047
NM_001267550.2(TTN):c.102580C>A (p.Leu34194Ile)
NM_001267550.2(TTN):c.102591A>C (p.Lys34197Asn)
NM_001267550.2(TTN):c.102592G>A (p.Asp34198Asn) rs948836784
NM_001267550.2(TTN):c.102594C>G (p.Asp34198Glu)
NM_001267550.2(TTN):c.102607G>C (p.Asp34203His) rs1189437049
NM_001267550.2(TTN):c.102607_102615del (p.Asp34203_Gly34205del) rs1559032218
NM_001267550.2(TTN):c.102610G>A (p.Asp34204Asn)
NM_001267550.2(TTN):c.102612T>A (p.Asp34204Glu) rs2154135586
NM_001267550.2(TTN):c.102626G>A (p.Cys34209Tyr) rs2154135569
NM_001267550.2(TTN):c.102628A>G (p.Lys34210Glu) rs1690321634
NM_001267550.2(TTN):c.102632T>C (p.Val34211Ala) rs2154135563
NM_001267550.2(TTN):c.102642C>G (p.Asp34214Glu) rs766760792
NM_001267550.2(TTN):c.102646G>A (p.Gly34216Ser)
NM_001267550.2(TTN):c.102646G>T (p.Gly34216Cys)
NM_001267550.2(TTN):c.102647G>A (p.Gly34216Asp)
NM_001267550.2(TTN):c.102658T>C (p.Ser34220Pro)
NM_001267550.2(TTN):c.102659C>T (p.Ser34220Phe)
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
NM_001267550.2(TTN):c.102674T>C (p.Phe34225Ser)
NM_001267550.2(TTN):c.102676G>C (p.Val34226Leu)
NM_001267550.2(TTN):c.102683G>A (p.Gly34228Asp)
NM_001267550.2(TTN):c.102683G>T (p.Gly34228Val)
NM_001267550.2(TTN):c.102694G>C (p.Val34232Leu) rs2154135535
NM_001267550.2(TTN):c.102705T>C (p.Tyr34235=) rs1690297479
NM_001267550.2(TTN):c.102712C>T (p.Arg34238Cys)
NM_001267550.2(TTN):c.102713G>T (p.Arg34238Leu)
NM_001267550.2(TTN):c.102721A>G (p.Met34241Val) rs1690291255
NM_001267550.2(TTN):c.102725A>C (p.Lys34242Thr) rs1553493858
NM_001267550.2(TTN):c.102725A>G (p.Lys34242Arg) rs1553493858
NM_001267550.2(TTN):c.102740G>A (p.Arg34247Lys)
NM_001267550.2(TTN):c.102743C>T (p.Thr34248Ile)
NM_001267550.2(TTN):c.102745G>C (p.Asp34249His) rs1575271973
NM_001267550.2(TTN):c.102749C>A (p.Thr34250Lys) rs1575271907
NM_001267550.2(TTN):c.102752T>C (p.Met34251Thr) rs750864230
NM_001267550.2(TTN):c.102772C>T (p.Pro34258Ser) rs752360286
NM_001267550.2(TTN):c.102790C>G (p.Leu34264Val)
NM_001267550.2(TTN):c.102794A>G (p.Tyr34265Cys) rs1559030437
NM_001267550.2(TTN):c.102796A>T (p.Asn34266Tyr)
NM_001267550.2(TTN):c.102797A>G (p.Asn34266Ser)
NM_001267550.2(TTN):c.102800A>T (p.Lys34267Met)
NM_001267550.2(TTN):c.102803C>G (p.Thr34268Arg)
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.102811G>T (p.Val34271Leu) rs794727542
NM_001267550.2(TTN):c.102815G>A (p.Gly34272Asp)
NM_001267550.2(TTN):c.102820A>C (p.Asn34274His)
NM_001267550.2(TTN):c.102838A>G (p.Thr34280Ala)
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu) rs758945559
NM_001267550.2(TTN):c.102853C>T (p.Pro34285Ser)
NM_001267550.2(TTN):c.102874T>C (p.Tyr34292His)
NM_001267550.2(TTN):c.102881C>T (p.Ser34294Leu)
NM_001267550.2(TTN):c.102890A>C (p.Lys34297Thr) rs1559029083
NM_001267550.2(TTN):c.102891A>C (p.Lys34297Asn) rs1019464699
NM_001267550.2(TTN):c.102893T>C (p.Ile34298Thr) rs1690192341
NM_001267550.2(TTN):c.102904G>A (p.Asp34302Asn)
NM_001267550.2(TTN):c.102911A>G (p.Asp34304Gly)
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del) rs762798421
NM_001267550.2(TTN):c.102917A>G (p.Lys34306Arg) rs2154135329
NM_001267550.2(TTN):c.102919T>A (p.Tyr34307Asn)
NM_001267550.2(TTN):c.102926T>C (p.Phe34309Ser)
NM_001267550.2(TTN):c.102929A>G (p.Glu34310Gly)
NM_001267550.2(TTN):c.102934G>A (p.Asp34312Asn) rs1690170603
NM_001267550.2(TTN):c.102938A>C (p.Lys34313Thr)
NM_001267550.2(TTN):c.102938A>G (p.Lys34313Arg) rs1027988280
NM_001267550.2(TTN):c.102940G>T (p.Gly34314Cys)
NM_001267550.2(TTN):c.102955A>G (p.Thr34319Ala)
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.102962A>G (p.Asn34321Ser)
NM_001267550.2(TTN):c.102982G>T (p.Asp34328Tyr)
NM_001267550.2(TTN):c.102986C>T (p.Ala34329Val)
NM_001267550.2(TTN):c.102994A>G (p.Thr34332Ala)
NM_001267550.2(TTN):c.102997G>A (p.Val34333Ile) rs763815899
NM_001267550.2(TTN):c.103000G>A (p.Val34334Met)
NM_001267550.2(TTN):c.103015T>C (p.Tyr34339His)
NM_001267550.2(TTN):c.103018G>A (p.Gly34340Ser)
NM_001267550.2(TTN):c.103018G>T (p.Gly34340Cys)
NM_001267550.2(TTN):c.103019G>A (p.Gly34340Asp)
NM_001267550.2(TTN):c.103026C>G (p.Asp34342Glu) rs1690121378
NM_001267550.2(TTN):c.103048G>A (p.Val34350Ile) rs2154135237
NM_001267550.2(TTN):c.103052C>T (p.Thr34351Ile) rs772319019
NM_001267550.2(TTN):c.103057C>T (p.His34353Tyr)
NM_001267550.2(TTN):c.103059C>A (p.His34353Gln) rs2154135228
NM_001267550.2(TTN):c.103060C>A (p.Pro34354Thr)
NM_001267550.2(TTN):c.103064C>A (p.Pro34355His)
NM_001267550.2(TTN):c.103066C>T (p.Pro34356Ser)
NM_001267550.2(TTN):c.103072G>T (p.Asp34358Tyr) rs1690109376
NM_001267550.2(TTN):c.103076G>C (p.Ser34359Thr)
NM_001267550.2(TTN):c.103084A>G (p.Arg34362Gly)
NM_001267550.2(TTN):c.103091T>C (p.Met34364Thr) rs1057273567
NM_001267550.2(TTN):c.103124AAG[1] (p.Glu34376del)
NM_001267550.2(TTN):c.103126G>A (p.Glu34376Lys)
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro) rs779618819
NM_001267550.2(TTN):c.103137T>A (p.Ser34379Arg)
NM_001267550.2(TTN):c.103138G>C (p.Val34380Leu)
NM_001267550.2(TTN):c.103145T>C (p.Phe34382Ser) rs2154135165
NM_001267550.2(TTN):c.103151T>A (p.Ile34384Asn)
NM_001267550.2(TTN):c.103156G>A (p.Val34386Met)
NM_001267550.2(TTN):c.103156G>C (p.Val34386Leu)
NM_001267550.2(TTN):c.103159T>C (p.Ser34387Pro)
NM_001267550.2(TTN):c.103166T>A (p.Ile34389Asn) rs1575265105
NM_001267550.2(TTN):c.103172C>A (p.Pro34391Gln) rs775343253
NM_001267550.2(TTN):c.103172C>T (p.Pro34391Leu)
NM_001267550.2(TTN):c.103183A>C (p.Lys34395Gln) rs368320079
NM_001267550.2(TTN):c.103188G>T (p.Trp34396Cys)
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser) rs1361480669
NM_001267550.2(TTN):c.103220C>A (p.Pro34407His)
NM_001267550.2(TTN):c.103226T>C (p.Ile34409Thr) rs879013405
NM_001267550.2(TTN):c.103231A>C (p.Ile34411Leu)
NM_001267550.2(TTN):c.103232T>A (p.Ile34411Asn)
NM_001267550.2(TTN):c.103238A>G (p.His34413Arg)
NM_001267550.2(TTN):c.103243G>C (p.Gly34415Arg) rs1170678153
NM_001267550.2(TTN):c.103243G>T (p.Gly34415Cys)
NM_001267550.2(TTN):c.103244G>T (p.Gly34415Val)
NM_001267550.2(TTN):c.103249G>T (p.Asp34417Tyr)
NM_001267550.2(TTN):c.103271G>T (p.Arg34424Met)
NM_001267550.2(TTN):c.103276A>G (p.Thr34426Ala)
NM_001267550.2(TTN):c.103280T>C (p.Leu34427Ser)
NM_001267550.2(TTN):c.103292C>G (p.Thr34431Arg) rs192001910
NM_001267550.2(TTN):c.103294G>A (p.Gly34432Ser)
NM_001267550.2(TTN):c.103309A>G (p.Thr34437Ala)
NM_001267550.2(TTN):c.103327G>A (p.Gly34443Arg)
NM_001267550.2(TTN):c.103340G>A (p.Cys34447Tyr) rs770558110
NM_001267550.2(TTN):c.103351C>G (p.Leu34451Val) rs1559023612
NM_001267550.2(TTN):c.103352T>C (p.Leu34451Pro) rs2154135007
NM_001267550.2(TTN):c.103363C>A (p.Arg34455Ser) rs72629785
NM_001267550.2(TTN):c.103370G>A (p.Arg34457Lys)
NM_001267550.2(TTN):c.103373A>G (p.Tyr34458Cys)
NM_001267550.2(TTN):c.103376A>C (p.Lys34459Thr)
NM_001267550.2(TTN):c.103382A>T (p.Gln34461Leu)
NM_001267550.2(TTN):c.103390A>G (p.Lys34464Glu)
NM_001267550.2(TTN):c.103409A>T (p.Glu34470Val) rs1553491559
NM_001267550.2(TTN):c.103423A>G (p.Lys34475Glu)
NM_001267550.2(TTN):c.103436A>G (p.Lys34479Arg) rs747582398
NM_001267550.2(TTN):c.103439C>A (p.Thr34480Asn)
NM_001267550.2(TTN):c.103439C>T (p.Thr34480Ile)
NM_001267550.2(TTN):c.103441C>T (p.Leu34481Phe) rs1689951104
NM_001267550.2(TTN):c.103445G>T (p.Arg34482Ile) rs1689948996
NM_001267550.2(TTN):c.103447A>G (p.Met34483Val)
NM_001267550.2(TTN):c.103449G>C (p.Met34483Ile) rs1470149812
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro) rs754949098
NM_001267550.2(TTN):c.103451C>T (p.Ala34484Val)
NM_001267550.2(TTN):c.103455A>T (p.Glu34485Asp) rs746863482
NM_001267550.2(TTN):c.103457T>C (p.Ile34486Thr) rs2154134918
NM_001267550.2(TTN):c.103474A>C (p.Ser34492Arg)
NM_001267550.2(TTN):c.103476T>A (p.Ser34492Arg) rs878854283
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile) rs1166346683
NM_001267550.2(TTN):c.103478T>C (p.Val34493Ala) rs1553491321
NM_001267550.2(TTN):c.103492G>A (p.Val34498Ile)
NM_001267550.2(TTN):c.103492G>T (p.Val34498Leu)
NM_001267550.2(TTN):c.103499A>C (p.Lys34500Thr)
NM_001267550.2(TTN):c.1034G>A (p.Trp345Ter) rs1574929972
NM_001267550.2(TTN):c.103502A>C (p.Glu34501Ala) rs1369317965
NM_001267550.2(TTN):c.103504G>T (p.Ala34502Ser)
NM_001267550.2(TTN):c.103505C>A (p.Ala34502Asp)
NM_001267550.2(TTN):c.103514A>G (p.Glu34505Gly)
NM_001267550.2(TTN):c.103523T>C (p.Val34508Ala)
NM_001267550.2(TTN):c.103529A>G (p.Tyr34510Cys)
NM_001267550.2(TTN):c.103537G>C (p.Ala34513Pro)
NM_001267550.2(TTN):c.103540G>T (p.Val34514Leu) rs769311670
NM_001267550.2(TTN):c.103543A>T (p.Ser34515Cys)
NM_001267550.2(TTN):c.103549A>C (p.Lys34517Gln)
NM_001267550.2(TTN):c.103555G>C (p.Val34519Leu)
NM_001267550.2(TTN):c.103564G>A (p.Glu34522Lys) rs1689887445
NM_001267550.2(TTN):c.103579A>C (p.Ile34527Leu) rs1689876003
NM_001267550.2(TTN):c.103582G>A (p.Glu34528Lys) rs2154134838
NM_001267550.2(TTN):c.103582G>C (p.Glu34528Gln)
NM_001267550.2(TTN):c.103597G>C (p.Glu34533Gln)
NM_001267550.2(TTN):c.103598A>G (p.Glu34533Gly) rs1484143627
NM_001267550.2(TTN):c.103612A>T (p.Met34538Leu) rs376233324
NM_001267550.2(TTN):c.103615C>T (p.Pro34539Ser)
NM_001267550.2(TTN):c.103623T>G (p.Asp34541Glu) rs1559020199
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu) rs1575257488
NM_001267550.2(TTN):c.103641G>T (p.Lys34547Asn) rs2154134776
NM_001267550.2(TTN):c.103648C>G (p.Gln34550Glu)
NM_001267550.2(TTN):c.103654A>G (p.Thr34552Ala)
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.103662A>C (p.Glu34554Asp)
NM_001267550.2(TTN):c.103663G>A (p.Glu34555Lys)
NM_001267550.2(TTN):c.103665A>C (p.Glu34555Asp)
NM_001267550.2(TTN):c.103694T>C (p.Met34565Thr)
NM_001267550.2(TTN):c.103696T>A (p.Ser34566Thr)
NM_001267550.2(TTN):c.103696T>G (p.Ser34566Ala) rs556060586
NM_001267550.2(TTN):c.103699G>T (p.Asp34567Tyr)
NM_001267550.2(TTN):c.103702A>G (p.Met34568Val)
NM_001267550.2(TTN):c.103703T>C (p.Met34568Thr) rs1350583693
NM_001267550.2(TTN):c.103721T>G (p.Ile34574Arg) rs2154134707
NM_001267550.2(TTN):c.103723C>A (p.Arg34575Ser) rs190866742
NM_001267550.2(TTN):c.103726G>C (p.Asp34576His)
NM_001267550.2(TTN):c.103730A>T (p.Gln34577Leu)
NM_001267550.2(TTN):c.103736A>C (p.Glu34579Ala) rs1386348360
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg) rs775137392
NM_001267550.2(TTN):c.103742C>G (p.Pro34581Arg) rs1357155692
NM_001267550.2(TTN):c.103750C>T (p.Leu34584Phe) rs1559018367
NM_001267550.2(TTN):c.103759G>A (p.Val34587Ile) rs1188944324
NM_001267550.2(TTN):c.103774C>A (p.Pro34592Thr) rs748291093
NM_001267550.2(TTN):c.103774C>T (p.Pro34592Ser) rs748291093
NM_001267550.2(TTN):c.103777A>C (p.Lys34593Gln) rs1689768170
NM_001267550.2(TTN):c.103796G>C (p.Arg34599Thr) rs1362778188
NM_001267550.2(TTN):c.103801G>A (p.Glu34601Lys)
NM_001267550.2(TTN):c.103804C>G (p.Gln34602Glu) rs727505242
NM_001267550.2(TTN):c.103818G>A (p.Met34606Ile)
NM_001267550.2(TTN):c.10381dup (p.Leu3461fs)
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
NM_001267550.2(TTN):c.103831A>G (p.Ile34611Val)
NM_001267550.2(TTN):c.103840C>G (p.Gln34614Glu) rs2154134587
NM_001267550.2(TTN):c.103865C>T (p.Pro34622Leu) rs762716728
NM_001267550.2(TTN):c.103879G>C (p.Asp34627His)
NM_001267550.2(TTN):c.103882G>T (p.Asp34628Tyr) rs1553490035
NM_001267550.2(TTN):c.103888G>A (p.Glu34630Lys)
NM_001267550.2(TTN):c.103892T>C (p.Ile34631Thr) rs776709904
NM_001267550.2(TTN):c.103892T>G (p.Ile34631Arg) rs776709904
NM_001267550.2(TTN):c.103895T>C (p.Val34632Ala)
NM_001267550.2(TTN):c.103897A>G (p.Arg34633Gly)
NM_001267550.2(TTN):c.103901C>T (p.Pro34634Leu)
NM_001267550.2(TTN):c.103904C>G (p.Ala34635Gly)
NM_001267550.2(TTN):c.103919C>T (p.Pro34640Leu) rs2154134518
NM_001267550.2(TTN):c.10391A>C (p.Lys3464Thr) rs1553970272
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) rs774574734
NM_001267550.2(TTN):c.103924C>A (p.Pro34642Thr)
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del) rs771366227
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
NM_001267550.2(TTN):c.103933G>A (p.Asp34645Asn)
NM_001267550.2(TTN):c.103936T>C (p.Phe34646Leu)
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly) rs1689696229
NM_001267550.2(TTN):c.103948C>A (p.Pro34650Thr) rs879134298
NM_001267550.2(TTN):c.103957C>A (p.Arg34653Ser) rs773002407
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) rs72629786
NM_001267550.2(TTN):c.103958G>T (p.Arg34653Leu) rs72629786
NM_001267550.2(TTN):c.10395del (p.Ser3466fs) rs2087781053
NM_001267550.2(TTN):c.103961C>T (p.Ser34654Phe) rs1689685184
NM_001267550.2(TTN):c.103963C>T (p.Leu34655Phe)
NM_001267550.2(TTN):c.103964T>C (p.Leu34655Pro)
NM_001267550.2(TTN):c.103964T>G (p.Leu34655Arg)
NM_001267550.2(TTN):c.103973T>C (p.Ile34658Thr) rs1689681272
NM_001267550.2(TTN):c.103999A>G (p.Ile34667Val) rs749651526
NM_001267550.2(TTN):c.104006A>C (p.Asp34669Ala)
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys) rs765125364
NM_001267550.2(TTN):c.104024G>C (p.Arg34675Thr)
NM_001267550.2(TTN):c.104031G>C (p.Glu34677Asp) rs2154134425
NM_001267550.2(TTN):c.104038A>G (p.Arg34680Gly)
NM_001267550.2(TTN):c.104039G>A (p.Arg34680Lys) rs753652745
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
NM_001267550.2(TTN):c.104052AGA[1] (p.Glu34686del) rs1689633500
NM_001267550.2(TTN):c.104059C>A (p.Leu34687Ile) rs1575250160
NM_001267550.2(TTN):c.104060T>G (p.Leu34687Arg) rs2154134402
NM_001267550.2(TTN):c.104063A>G (p.Glu34688Gly)
NM_001267550.2(TTN):c.104069G>T (p.Gly34690Val) rs964554853
NM_001267550.2(TTN):c.104072T>C (p.Phe34691Ser) rs886055223
NM_001267550.2(TTN):c.104080T>C (p.Ser34694Pro) rs768203673
NM_001267550.2(TTN):c.104080T>G (p.Ser34694Ala) rs768203673
NM_001267550.2(TTN):c.104090G>C (p.Ser34697Thr)
NM_001267550.2(TTN):c.104098C>A (p.Pro34700Thr) rs778877604
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser) rs778877604
NM_001267550.2(TTN):c.104099C>G (p.Pro34700Arg)
NM_001267550.2(TTN):c.104104C>A (p.His34702Asn)
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
NM_001267550.2(TTN):c.104113C>A (p.Leu34705Ile)
NM_001267550.2(TTN):c.104113C>T (p.Leu34705Phe)
NM_001267550.2(TTN):c.104119A>G (p.Ser34707Gly)
NM_001267550.2(TTN):c.104128T>C (p.Tyr34710His)
NM_001267550.2(TTN):c.104144C>T (p.Ala34715Val)
NM_001267550.2(TTN):c.104147A>G (p.His34716Arg)
NM_001267550.2(TTN):c.104152A>G (p.Lys34718Glu)
NM_001267550.2(TTN):c.104155G>A (p.Val34719Met)
NM_001267550.2(TTN):c.104159A>T (p.Glu34720Val)
NM_001267550.2(TTN):c.10415C>G (p.Ser3472Ter)
NM_001267550.2(TTN):c.104161G>A (p.Glu34721Lys) rs1689557329
NM_001267550.2(TTN):c.104162A>C (p.Glu34721Ala)
NM_001267550.2(TTN):c.104171A>G (p.Lys34724Arg)
NM_001267550.2(TTN):c.104173G>A (p.Asp34725Asn)
NM_001267550.2(TTN):c.104174A>C (p.Asp34725Ala) rs771698375
NM_001267550.2(TTN):c.104174A>G (p.Asp34725Gly)
NM_001267550.2(TTN):c.104180G>A (p.Arg34727Lys)
NM_001267550.2(TTN):c.104181G>T (p.Arg34727Ser)
NM_001267550.2(TTN):c.104188A>G (p.Thr34730Ala) rs949998241
NM_001267550.2(TTN):c.104200C>T (p.Pro34734Ser)
NM_001267550.2(TTN):c.104203A>G (p.Thr34735Ala) rs1451123812
NM_001267550.2(TTN):c.104204C>G (p.Thr34735Arg) rs755986938
NM_001267550.2(TTN):c.104208G>C (p.Lys34736Asn)
NM_001267550.2(TTN):c.104209G>A (p.Ala34737Thr)
NM_001267550.2(TTN):c.104210C>T (p.Ala34737Val)
NM_001267550.2(TTN):c.104215G>C (p.Ala34739Pro) rs796476794
NM_001267550.2(TTN):c.104215G>T (p.Ala34739Ser)
NM_001267550.2(TTN):c.104216C>G (p.Ala34739Gly)
NM_001267550.2(TTN):c.104221A>G (p.Thr34741Ala) rs2154134261
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn) rs765636638
NM_001267550.2(TTN):c.104225G>T (p.Ser34742Ile)
NM_001267550.2(TTN):c.104237_104245del (p.Leu34746_Glu34748del) rs1689509779
NM_001267550.2(TTN):c.104248C>T (p.His34750Tyr)
NM_001267550.2(TTN):c.104258C>T (p.Ala34753Val) rs770515852
NM_001267550.2(TTN):c.104263T>A (p.Tyr34755Asn) rs1553488819
NM_001267550.2(TTN):c.104290A>G (p.Ile34764Val)
NM_001267550.2(TTN):c.104294T>C (p.Met34765Thr)
NM_001267550.2(TTN):c.104306A>T (p.Glu34769Val) rs2154134195
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys) rs2154134190
NM_001267550.2(TTN):c.104318T>C (p.Leu34773Ser)
NM_001267550.2(TTN):c.104323C>T (p.Arg34775Cys)
NM_001267550.2(TTN):c.104327C>T (p.Pro34776Leu)
NM_001267550.2(TTN):c.104332A>G (p.Thr34778Ala) rs765838260
NM_001267550.2(TTN):c.104343G>C (p.Gln34781His)
NM_001267550.2(TTN):c.104357A>G (p.Tyr34786Cys) rs1689457386
NM_001267550.2(TTN):c.104365G>C (p.Glu34789Gln) rs190565627
NM_001267550.2(TTN):c.104369T>C (p.Leu34790Pro)
NM_001267550.2(TTN):c.104379G>C (p.Met34793Ile)
NM_001267550.2(TTN):c.104381C>T (p.Ser34794Leu) rs1302011604
NM_001267550.2(TTN):c.104390A>C (p.Glu34797Ala)
NM_001267550.2(TTN):c.104390A>T (p.Glu34797Val)
NM_001267550.2(TTN):c.104405A>T (p.Lys34802Ile) rs1689437836
NM_001267550.2(TTN):c.104413C>G (p.Arg34805Gly)
NM_001267550.2(TTN):c.104414G>C (p.Arg34805Pro) rs115150240
NM_001267550.2(TTN):c.104417A>C (p.Gln34806Pro)
NM_001267550.2(TTN):c.104420G>A (p.Arg34807Lys) rs973111888
NM_001267550.2(TTN):c.104421A>C (p.Arg34807Ser) rs2154134105
NM_001267550.2(TTN):c.104422G>A (p.Glu34808Lys)
NM_001267550.2(TTN):c.104434A>G (p.Ile34812Val) rs1245438198
NM_001267550.2(TTN):c.104438C>A (p.Thr34813Lys)
NM_001267550.2(TTN):c.104447A>G (p.Glu34816Gly)
NM_001267550.2(TTN):c.104448_104450dup (p.Glu34818_Tyr34819insGlu)
NM_001267550.2(TTN):c.104449G>A (p.Glu34817Lys) rs1553488312
NM_001267550.2(TTN):c.104449GAA[1] (p.Glu34818del) rs780929362
NM_001267550.2(TTN):c.10444G>A (p.Val3482Ile) rs1553970119
NM_001267550.2(TTN):c.104450A>G (p.Glu34817Gly)
NM_001267550.2(TTN):c.104455T>C (p.Tyr34819His) rs1553488294
NM_001267550.2(TTN):c.104474C>G (p.Ala34825Gly) rs766157074
NM_001267550.2(TTN):c.104477A>G (p.Gln34826Arg) rs2154134073
NM_001267550.2(TTN):c.104483A>G (p.Glu34828Gly) rs975412383
NM_001267550.2(TTN):c.104484A>T (p.Glu34828Asp)
NM_001267550.2(TTN):c.104498C>G (p.Ala34833Gly)
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val) rs1164350939
NM_001267550.2(TTN):c.104501C>G (p.Ser34834Cys)
NM_001267550.2(TTN):c.104503A>G (p.Arg34835Gly) rs938452034
NM_001267550.2(TTN):c.104504G>C (p.Arg34835Thr) rs2154134050
NM_001267550.2(TTN):c.104509C>G (p.Leu34837Val)
NM_001267550.2(TTN):c.104513G>A (p.Arg34838Lys)
NM_001267550.2(TTN):c.104531C>T (p.Ser34844Phe)
NM_001267550.2(TTN):c.104545G>A (p.Glu34849Lys)
NM_001267550.2(TTN):c.104546A>C (p.Glu34849Ala) rs1553487855
NM_001267550.2(TTN):c.104548T>A (p.Leu34850Ile)
NM_001267550.2(TTN):c.104584C>T (p.Pro34862Ser) rs2154133959
NM_001267550.2(TTN):c.104599G>A (p.Glu34867Lys) rs1689335929
NM_001267550.2(TTN):c.104623A>G (p.Arg34875Gly) rs377594642
NM_001267550.2(TTN):c.104624G>A (p.Arg34875Lys)
NM_001267550.2(TTN):c.104638G>A (p.Glu34880Lys) rs1404462483
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln) rs1404462483
NM_001267550.2(TTN):c.104647C>T (p.Arg34883Cys) rs1003158162
NM_001267550.2(TTN):c.104657C>T (p.Ser34886Phe)
NM_001267550.2(TTN):c.104659C>T (p.Pro34887Ser) rs1689308742
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.104664C>G (p.Ser34888Arg) rs1365150853
NM_001267550.2(TTN):c.104668G>A (p.Val34890Met)
NM_001267550.2(TTN):c.104668G>C (p.Val34890Leu)
NM_001267550.2(TTN):c.104671T>A (p.Ser34891Thr)
NM_001267550.2(TTN):c.104675G>A (p.Ser34892Asn)
NM_001267550.2(TTN):c.104680A>G (p.Arg34894Gly)
NM_001267550.2(TTN):c.104681G>C (p.Arg34894Thr)
NM_001267550.2(TTN):c.104687T>C (p.Leu34896Pro)
NM_001267550.2(TTN):c.104693G>C (p.Arg34898Thr)
NM_001267550.2(TTN):c.104699A>T (p.Glu34900Val)
NM_001267550.2(TTN):c.104702G>A (p.Arg34901Lys) rs1689282112
NM_001267550.2(TTN):c.104711G>T (p.Arg34904Ile) rs780506196
NM_001267550.2(TTN):c.104712A>T (p.Arg34904Ser)
NM_001267550.2(TTN):c.104713T>C (p.Phe34905Leu) rs2154133865
NM_001267550.2(TTN):c.104717A>G (p.Asp34906Gly)
NM_001267550.2(TTN):c.104717A>T (p.Asp34906Val)
NM_001267550.2(TTN):c.104720T>C (p.Ile34907Thr)
NM_001267550.2(TTN):c.104726C>T (p.Ser34909Phe) rs755637336
NM_001267550.2(TTN):c.104731T>C (p.Tyr34911His)
NM_001267550.2(TTN):c.104738C>T (p.Ser34913Phe) rs2154133838
NM_001267550.2(TTN):c.104746G>A (p.Ala34916Thr)
NM_001267550.2(TTN):c.104747C>T (p.Ala34916Val)
NM_001267550.2(TTN):c.104758A>C (p.Thr34920Pro)
NM_001267550.2(TTN):c.104767A>T (p.Thr34923Ser) rs1689239806
NM_001267550.2(TTN):c.104771C>T (p.Ser34924Leu)
NM_001267550.2(TTN):c.104776A>T (p.Arg34926Trp)
NM_001267550.2(TTN):c.104783A>G (p.Tyr34928Cys) rs1470980085
NM_001267550.2(TTN):c.104792T>G (p.Leu34931Trp)
NM_001267550.2(TTN):c.104794A>G (p.Ser34932Gly)
NM_001267550.2(TTN):c.104796T>G (p.Ser34932Arg) rs794729566
NM_001267550.2(TTN):c.104800C>A (p.Gln34934Lys)
NM_001267550.2(TTN):c.104804C>T (p.Pro34935Leu)
NM_001267550.2(TTN):c.104815G>C (p.Asp34939His) rs752164427
NM_001267550.2(TTN):c.104830A>G (p.Ile34944Val)
NM_001267550.2(TTN):c.104837T>A (p.Leu34946Gln)
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg) rs1185207035
NM_001267550.2(TTN):c.104845C>A (p.Arg34949Ser)
NM_001267550.2(TTN):c.104846G>A (p.Arg34949His)
NM_001267550.2(TTN):c.104848T>C (p.Ser34950Pro)
NM_001267550.2(TTN):c.104854A>G (p.Arg34952Gly)
NM_001267550.2(TTN):c.104855G>A (p.Arg34952Lys)
NM_001267550.2(TTN):c.104857G>A (p.Val34953Ile) rs776593972
NM_001267550.2(TTN):c.104857G>T (p.Val34953Leu)
NM_001267550.2(TTN):c.104860C>T (p.Pro34954Ser)
NM_001267550.2(TTN):c.104861C>T (p.Pro34954Leu) rs1689198573
NM_001267550.2(TTN):c.104863T>C (p.Cys34955Arg)
NM_001267550.2(TTN):c.104863T>G (p.Cys34955Gly)
NM_001267550.2(TTN):c.104865T>G (p.Cys34955Trp)
NM_001267550.2(TTN):c.104876C>A (p.Thr34959Lys)
NM_001267550.2(TTN):c.104879G>A (p.Arg34960His)
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu) rs934181908
NM_001267550.2(TTN):c.104888T>C (p.Leu34963Ser)
NM_001267550.2(TTN):c.104893G>A (p.Val34965Ile)
NM_001267550.2(TTN):c.104904G>C (p.Lys34968Asn) rs1274496471
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg) rs2154133728
NM_001267550.2(TTN):c.104922A>C (p.Lys34974Asn)
NM_001267550.2(TTN):c.104923T>C (p.Trp34975Arg)
NM_001267550.2(TTN):c.104929_104931del (p.His34977del) rs1689167981
NM_001267550.2(TTN):c.104932A>G (p.Asn34978Asp)
NM_001267550.2(TTN):c.104936G>A (p.Gly34979Asp) rs376634193
NM_001267550.2(TTN):c.104945T>C (p.Leu34982Pro)
NM_001267550.2(TTN):c.104949A>C (p.Gln34983His)
NM_001267550.2(TTN):c.104954G>A (p.Ser34985Asn) rs1689156700
NM_001267550.2(TTN):c.104966A>G (p.His34989Arg)
NM_001267550.2(TTN):c.104968T>C (p.Tyr34990His)
NM_001267550.2(TTN):c.104971A>G (p.Thr34991Ala) rs764200285
NM_001267550.2(TTN):c.104972C>T (p.Thr34991Ile)
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
NM_001267550.2(TTN):c.104987T>C (p.Val34996Ala) rs2154133672
NM_001267550.2(TTN):c.104990T>C (p.Leu34997Pro)
NM_001267550.2(TTN):c.104993C>A (p.Thr34998Asn) rs397517794
NM_001267550.2(TTN):c.104993C>T (p.Thr34998Ile) rs397517794
NM_001267550.2(TTN):c.105000A>T (p.Glu35000Asp) rs866303280
NM_001267550.2(TTN):c.105017C>T (p.Thr35006Ile) rs2154133648
NM_001267550.2(TTN):c.105041C>A (p.Ala35014Asp)
NM_001267550.2(TTN):c.105046T>C (p.Cys35016Arg)
NM_001267550.2(TTN):c.10504C>T (p.Gln3502Ter) rs1411783753
NM_001267550.2(TTN):c.105063C>T (p.Gly35021=)
NM_001267550.2(TTN):c.105074A>C (p.Asp35025Ala)
NM_001267550.2(TTN):c.105077A>G (p.Tyr35026Cys)
NM_001267550.2(TTN):c.105088G>A (p.Asp35030Asn)
NM_001267550.2(TTN):c.105091G>C (p.Val35031Leu)
NM_001267550.2(TTN):c.105098G>A (p.Gly35033Glu)
NM_001267550.2(TTN):c.105100G>C (p.Gly35034Arg)
NM_001267550.2(TTN):c.105103G>T (p.Asp35035Tyr) rs794729567
NM_001267550.2(TTN):c.105113C>T (p.Thr35038Ile)
NM_001267550.2(TTN):c.105130A>G (p.Arg35044Gly)
NM_001267550.2(TTN):c.105131G>A (p.Arg35044Lys)
NM_001267550.2(TTN):c.105133G>C (p.Asp35045His)
NM_001267550.2(TTN):c.105138_105164del (p.Glu35047_Glu35055del)
NM_001267550.2(TTN):c.105142G>A (p.Val35048Ile) rs1689087953
NM_001267550.2(TTN):c.105145C>A (p.Pro35049Thr) rs2154133549
NM_001267550.2(TTN):c.105151T>G (p.Ser35051Ala)
NM_001267550.2(TTN):c.105152C>T (p.Ser35051Phe)
NM_001267550.2(TTN):c.105154G>C (p.Val35052Leu) rs751583336
NM_001267550.2(TTN):c.105160C>T (p.Pro35054Ser)
NM_001267550.2(TTN):c.105166C>G (p.Leu35056Val)
NM_001267550.2(TTN):c.105174A>T (p.Arg35058Ser)
NM_001267550.2(TTN):c.105180G>T (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105180_105181delinsCA (p.Glu35060_Ala35061delinsAspThr) rs1689075044
NM_001267550.2(TTN):c.105182C>A (p.Ala35061Glu) rs762136167
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser) rs1689071281
NM_001267550.2(TTN):c.105187G>A (p.Ala35063Thr) rs1558998039
NM_001267550.2(TTN):c.105197C>T (p.Ser35066Leu) rs1346086554
NM_001267550.2(TTN):c.10519C>T (p.Pro3507Ser)
NM_001267550.2(TTN):c.105200T>C (p.Phe35067Ser)
NM_001267550.2(TTN):c.105203A>T (p.Lys35068Met)
NM_001267550.2(TTN):c.105209C>T (p.Thr35070Ile)
NM_001267550.2(TTN):c.105214G>C (p.Glu35072Gln) rs2154133487
NM_001267550.2(TTN):c.105220G>C (p.Glu35074Gln)
NM_001267550.2(TTN):c.105224C>T (p.Ala35075Val)
NM_001267550.2(TTN):c.105235G>A (p.Val35079Ile) rs751678775
NM_001267550.2(TTN):c.105241G>C (p.Glu35081Gln)
NM_001267550.2(TTN):c.105257T>A (p.Met35086Lys) rs886055221
NM_001267550.2(TTN):c.10525A>T (p.Lys3509Ter) rs2154336016
NM_001267550.2(TTN):c.105266C>T (p.Thr35089Ile)
NM_001267550.2(TTN):c.105275G>A (p.Ser35092Asn) rs1689031111
NM_001267550.2(TTN):c.105286T>A (p.Tyr35096Asn)
NM_001267550.2(TTN):c.105291A>T (p.Glu35097Asp)
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
NM_001267550.2(TTN):c.105295T>A (p.Ser35099Thr) rs1311764657
NM_001267550.2(TTN):c.105304G>A (p.Ala35102Thr) rs794729568
NM_001267550.2(TTN):c.105314A>G (p.Lys35105Arg) rs2154133421
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn) rs1575229486
NM_001267550.2(TTN):c.105319G>A (p.Ala35107Thr)
NM_001267550.2(TTN):c.105322G>A (p.Ala35108Thr) rs1689011295
NM_001267550.2(TTN):c.105326T>C (p.Leu35109Ser) rs1689008949
NM_001267550.2(TTN):c.105336_105350dup (p.35109LEEKS[3]) rs1558996383
NM_001267550.2(TTN):c.105340C>G (p.Leu35114Val)
NM_001267550.2(TTN):c.105341T>G (p.Leu35114Arg)
NM_001267550.2(TTN):c.105351A>C (p.Lys35117Asn) rs1689002120
NM_001267550.2(TTN):c.105352T>C (p.Ser35118Pro) rs1689001356
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
NM_001267550.2(TTN):c.105383C>G (p.Ala35128Gly)
NM_001267550.2(TTN):c.105386C>G (p.Ala35129Gly) rs1688988300
NM_001267550.2(TTN):c.105389G>A (p.Arg35130Lys)
NM_001267550.2(TTN):c.105394C>G (p.Leu35132Val)
NM_001267550.2(TTN):c.105398C>T (p.Thr35133Ile)
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly) rs372875128
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105410C>T (p.Ser35137Phe)
NM_001267550.2(TTN):c.105415A>G (p.Thr35139Ala) rs1029303559
NM_001267550.2(TTN):c.105424G>C (p.Glu35142Gln) rs765274398
NM_001267550.2(TTN):c.105434C>A (p.Ser35145Tyr) rs1688961412
NM_001267550.2(TTN):c.105437C>T (p.Ala35146Val) rs2154133306
NM_001267550.2(TTN):c.105439A>G (p.Arg35147Gly) rs2154133304
NM_001267550.2(TTN):c.105464A>G (p.Glu35155Gly)
NM_001267550.2(TTN):c.105497G>A (p.Gly35166Glu)
NM_001267550.2(TTN):c.105497G>T (p.Gly35166Val) rs1060500538
NM_001267550.2(TTN):c.105499C>G (p.Gln35167Glu) rs1558994144
NM_001267550.2(TTN):c.105500A>G (p.Gln35167Arg)
NM_001267550.2(TTN):c.105506T>C (p.Leu35169Pro)
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105515C>A (p.Ser35172Tyr) rs749354699
NM_001267550.2(TTN):c.105515C>T (p.Ser35172Phe)
NM_001267550.2(TTN):c.105525C>G (p.His35175Gln) rs1215297501
NM_001267550.2(TTN):c.105526C>A (p.Gln35176Lys)
NM_001267550.2(TTN):c.105539C>A (p.Thr35180Lys) rs1575225765
NM_001267550.2(TTN):c.105544T>C (p.Tyr35182His) rs886042549
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105554C>T (p.Thr35185Ile) rs781567438
NM_001267550.2(TTN):c.105557T>C (p.Phe35186Ser)
NM_001267550.2(TTN):c.105577G>T (p.Ala35193Ser)
NM_001267550.2(TTN):c.105581C>T (p.Ser35194Phe)
NM_001267550.2(TTN):c.105584A>C (p.Asp35195Ala)
NM_001267550.2(TTN):c.105592A>G (p.Asn35198Asp)
NM_001267550.2(TTN):c.105594T>A (p.Asn35198Lys)
NM_001267550.2(TTN):c.105595T>C (p.Tyr35199His)
NM_001267550.2(TTN):c.105600C>G (p.Ser35200Arg) rs1553485050
NM_001267550.2(TTN):c.105604G>A (p.Val35202Met)
NM_001267550.2(TTN):c.105613_105633del (p.Asn35205_Glu35211del)
NM_001267550.2(TTN):c.105616A>G (p.Ser35206Gly) rs2154133150
NM_001267550.2(TTN):c.105622G>A (p.Gly35208Arg)
NM_001267550.2(TTN):c.105629A>G (p.Gln35210Arg)
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105634G>A (p.Ala35212Thr)
NM_001267550.2(TTN):c.105635C>T (p.Ala35212Val)
NM_001267550.2(TTN):c.105637G>A (p.Glu35213Lys)
NM_001267550.2(TTN):c.105644C>T (p.Thr35215Ile)
NM_001267550.2(TTN):c.105652A>G (p.Ile35218Val)
NM_001267550.2(TTN):c.105661G>A (p.Ala35221Thr)
NM_001267550.2(TTN):c.105662C>A (p.Ala35221Asp) rs1558992011
NM_001267550.2(TTN):c.105664A>G (p.Arg35222Gly) rs2154133116
NM_001267550.2(TTN):c.105665G>A (p.Arg35222Lys)
NM_001267550.2(TTN):c.105665G>C (p.Arg35222Thr)
NM_001267550.2(TTN):c.105670A>T (p.Thr35224Ser) rs1688850382
NM_001267550.2(TTN):c.105686C>T (p.Thr35229Ile)
NM_001267550.2(TTN):c.105689C>T (p.Ser35230Leu)
NM_001267550.2(TTN):c.105691C>T (p.Pro35231Ser)
NM_001267550.2(TTN):c.105694C>T (p.Pro35232Ser)
NM_001267550.2(TTN):c.105698G>C (p.Arg35233Thr)
NM_001267550.2(TTN):c.105706T>C (p.Ser35236Pro)
NM_001267550.2(TTN):c.105715C>T (p.Pro35239Ser)
NM_001267550.2(TTN):c.105719G>T (p.Arg35240Leu)
NM_001267550.2(TTN):c.105721G>A (p.Val35241Met)
NM_001267550.2(TTN):c.105722T>C (p.Val35241Ala)
NM_001267550.2(TTN):c.105731C>T (p.Pro35244Leu) rs2154133075
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.105737C>T (p.Ala35246Val) rs370476812
NM_001267550.2(TTN):c.105748C>A (p.Pro35250Thr)
NM_001267550.2(TTN):c.105772C>A (p.Pro35258Thr) rs886055220
NM_001267550.2(TTN):c.105772C>T (p.Pro35258Ser)
NM_001267550.2(TTN):c.105778C>T (p.His35260Tyr)
NM_001267550.2(TTN):c.105780C>A (p.His35260Gln) rs373486593
NM_001267550.2(TTN):c.105790G>C (p.Val35264Leu) rs770730954
NM_001267550.2(TTN):c.105796C>T (p.Pro35266Ser)
NM_001267550.2(TTN):c.105815C>T (p.Thr35272Ile)
NM_001267550.2(TTN):c.105817C>T (p.Pro35273Ser)
NM_001267550.2(TTN):c.105818C>A (p.Pro35273Gln) rs1553484561
NM_001267550.2(TTN):c.105821C>G (p.Thr35274Arg)
NM_001267550.2(TTN):c.105821C>T (p.Thr35274Ile) rs2857271
NM_001267550.2(TTN):c.105829G>A (p.Val35277Ile)
NM_001267550.2(TTN):c.105829G>T (p.Val35277Phe)
NM_001267550.2(TTN):c.105838C>T (p.Leu35280Phe) rs1688767942
NM_001267550.2(TTN):c.105842C>G (p.Pro35281Arg)
NM_001267550.2(TTN):c.105850G>A (p.Ala35284Thr)
NM_001267550.2(TTN):c.105851C>G (p.Ala35284Gly) rs1553484434
NM_001267550.2(TTN):c.105863T>G (p.Ile35288Ser) rs764713884
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
NM_001267550.2(TTN):c.105881C>G (p.Ala35294Gly) rs569210689
NM_001267550.2(TTN):c.105881C>T (p.Ala35294Val)
NM_001267550.2(TTN):c.105892A>G (p.Lys35298Glu)
NM_001267550.2(TTN):c.105897G>C (p.Glu35299Asp) rs886055219
NM_001267550.2(TTN):c.105899T>C (p.Ile35300Thr)
NM_001267550.2(TTN):c.105904A>G (p.Lys35302Glu)
NM_001267550.2(TTN):c.105906A>T (p.Lys35302Asn)
NM_001267550.2(TTN):c.105908T>C (p.Leu35303Pro)
NM_001267550.2(TTN):c.105911C>T (p.Thr35304Ile)
NM_001267550.2(TTN):c.105923A>C (p.Glu35308Ala)
NM_001267550.2(TTN):c.105927C>G (p.Ser35309Arg)
NM_001267550.2(TTN):c.105928A>C (p.Ser35310Arg)
NM_001267550.2(TTN):c.105929G>A (p.Ser35310Asn) rs1553484229
NM_001267550.2(TTN):c.105929G>C (p.Ser35310Thr) rs1553484229
NM_001267550.2(TTN):c.105931G>A (p.Val35311Ile)
NM_001267550.2(TTN):c.105939G>T (p.Arg35313Ser) rs1688720188
NM_001267550.2(TTN):c.105950T>C (p.Val35317Ala)
NM_001267550.2(TTN):c.105952A>G (p.Thr35318Ala)
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser) rs1688710616
NM_001267550.2(TTN):c.105953C>A (p.Thr35318Asn) rs1391706140
NM_001267550.2(TTN):c.105953C>G (p.Thr35318Ser) rs1391706140
NM_001267550.2(TTN):c.105955T>G (p.Trp35319Gly)
NM_001267550.2(TTN):c.105959A>T (p.Tyr35320Phe)
NM_001267550.2(TTN):c.105964G>C (p.Asp35322His)
NM_001267550.2(TTN):c.105980A>G (p.Lys35327Arg) rs1164792965
NM_001267550.2(TTN):c.105991C>A (p.His35331Asn)
NM_001267550.2(TTN):c.106003C>G (p.His35335Asp)
NM_001267550.2(TTN):c.106006T>G (p.Tyr35336Asp) rs935907208
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser) rs373610666
NM_001267550.2(TTN):c.106019G>C (p.Gly35340Ala)
NM_001267550.2(TTN):c.106019G>T (p.Gly35340Val)
NM_001267550.2(TTN):c.106022C>G (p.Thr35341Ser)
NM_001267550.2(TTN):c.106040A>G (p.Asn35347Ser)
NM_001267550.2(TTN):c.106043A>C (p.Asn35348Thr)
NM_001267550.2(TTN):c.106045C>A (p.Leu35349Ile) rs1220665174
NM_001267550.2(TTN):c.106046T>C (p.Leu35349Pro)
NM_001267550.2(TTN):c.106049C>T (p.Thr35350Ile) rs1688665396
NM_001267550.2(TTN):c.106051G>A (p.Glu35351Lys)
NM_001267550.2(TTN):c.106057G>A (p.Asp35353Asn) rs780037060
NM_001267550.2(TTN):c.106057G>C (p.Asp35353His) rs780037060
NM_001267550.2(TTN):c.106066G>A (p.Glu35356Lys) rs886055218
NM_001267550.2(TTN):c.106069T>C (p.Tyr35357His)
NM_001267550.2(TTN):c.106070A>C (p.Tyr35357Ser)
NM_001267550.2(TTN):c.106072G>A (p.Val35358Ile) rs2154132826
NM_001267550.2(TTN):c.106073T>A (p.Val35358Asp) rs1172243981
NM_001267550.2(TTN):c.106075T>C (p.Cys35359Arg)
NM_001267550.2(TTN):c.106078G>C (p.Glu35360Gln)
NM_001267550.2(TTN):c.106087G>A (p.Gly35363Ser)
NM_001267550.2(TTN):c.106091A>G (p.Glu35364Gly) rs1688643496
NM_001267550.2(TTN):c.106092A>C (p.Glu35364Asp)
NM_001267550.2(TTN):c.106097G>A (p.Gly35366Glu)
NM_001267550.2(TTN):c.10609T>C (p.Tyr3537His) rs1553969617
NM_001267550.2(TTN):c.106102T>C (p.Ser35368Pro) rs1688636055
NM_001267550.2(TTN):c.106103C>G (p.Ser35368Cys)
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
NM_001267550.2(TTN):c.106111A>G (p.Asn35371Asp)
NM_001267550.2(TTN):c.106126G>A (p.Gly35376Arg)
NM_001267550.2(TTN):c.106127G>T (p.Gly35376Val)
NM_001267550.2(TTN):c.106133C>G (p.Ala35378Gly) rs555476312
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106137_106139dup (p.Phe35379_Lys35380insAsn) rs2154132776
NM_001267550.2(TTN):c.106150G>A (p.Glu35384Lys) rs1170470596
NM_001267550.2(TTN):c.106156G>C (p.Val35386Leu)
NM_001267550.2(TTN):c.106179G>C (p.Lys35393Asn)
NM_001267550.2(TTN):c.106184C>T (p.Ser35395Leu)
NM_001267550.2(TTN):c.106186G>A (p.Asp35396Asn)
NM_001267550.2(TTN):c.106188T>A (p.Asp35396Glu) rs770681247
NM_001267550.2(TTN):c.106199C>G (p.Thr35400Ser) rs906681609
NM_001267550.2(TTN):c.106201G>A (p.Glu35401Lys) rs2154132721
NM_001267550.2(TTN):c.106211T>C (p.Val35404Ala) rs1688584053
NM_001267550.2(TTN):c.106214C>G (p.Thr35405Ser) rs1688580203
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr) rs371304729
NM_001267550.2(TTN):c.106219A>G (p.Lys35407Glu) rs1688576388
NM_001267550.2(TTN):c.106223C>A (p.Thr35408Asn) rs1688573613
NM_001267550.2(TTN):c.106228C>T (p.Pro35410Ser)
NM_001267550.2(TTN):c.106229C>G (p.Pro35410Arg) rs1553483445
NM_001267550.2(TTN):c.106233A>T (p.Lys35411Asn)
NM_001267550.2(TTN):c.106234G>C (p.Ala35412Pro) rs766892661
NM_001267550.2(TTN):c.106238C>G (p.Pro35413Arg) rs1688567795
NM_001267550.2(TTN):c.106240G>C (p.Glu35414Gln) rs1558984927
NM_001267550.2(TTN):c.106253C>T (p.Ser35418Leu)
NM_001267550.2(TTN):c.106265T>C (p.Ile35422Thr) rs1688557044
NM_001267550.2(TTN):c.106274G>A (p.Gly35425Glu) rs1204851576
NM_001267550.2(TTN):c.106281G>C (p.Gln35427His)
NM_001267550.2(TTN):c.106285A>T (p.Thr35429Ser)
NM_001267550.2(TTN):c.106289C>A (p.Thr35430Asn)
NM_001267550.2(TTN):c.106302C>G (p.Asp35434Glu)
NM_001267550.2(TTN):c.106313A>T (p.Lys35438Ile)
NM_001267550.2(TTN):c.106325A>G (p.Lys35442Arg) rs1688520726
NM_001267550.2(TTN):c.106327G>A (p.Ala35443Thr)
NM_001267550.2(TTN):c.106330A>G (p.Thr35444Ala) rs1688516881
NM_001267550.2(TTN):c.106330A>T (p.Thr35444Ser) rs1688516881
NM_001267550.2(TTN):c.106349C>T (p.Thr35450Ile) rs371022420
NM_001267550.2(TTN):c.106365A>C (p.Lys35455Asn)
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=) rs2154132585
NM_001267550.2(TTN):c.106375-3C>T rs1688412007
NM_001267550.2(TTN):c.106378A>G (p.Ile35460Val) rs1688408023
NM_001267550.2(TTN):c.106382C>T (p.Thr35461Ile)
NM_001267550.2(TTN):c.106397A>G (p.Tyr35466Cys)
NM_001267550.2(TTN):c.106402C>G (p.Leu35468Val)
NM_001267550.2(TTN):c.106415A>C (p.Lys35472Thr) rs1688385311
NM_001267550.2(TTN):c.106418G>A (p.Gly35473Glu) rs1688381864
NM_001267550.2(TTN):c.106421G>C (p.Gly35474Ala)
NM_001267550.2(TTN):c.106439A>C (p.His35480Pro)
NM_001267550.2(TTN):c.106444A>T (p.Thr35482Ser) rs1423470146
NM_001267550.2(TTN):c.106451C>A (p.Thr35484Asn) rs754163825
NM_001267550.2(TTN):c.106460G>C (p.Ser35487Thr)
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg) rs886039020
NM_001267550.2(TTN):c.106471A>G (p.Thr35491Ala)
NM_001267550.2(TTN):c.106472C>A (p.Thr35491Asn) rs1461069852
NM_001267550.2(TTN):c.106472C>T (p.Thr35491Ile)
NM_001267550.2(TTN):c.106486A>C (p.Asn35496His) rs1688351717
NM_001267550.2(TTN):c.106487A>C (p.Asn35496Thr) rs2154132393
NM_001267550.2(TTN):c.106488T>A (p.Asn35496Lys)
NM_001267550.2(TTN):c.106492G>C (p.Ala35498Pro) rs878879036
NM_001267550.2(TTN):c.106495G>A (p.Gly35499Arg) rs779794234
NM_001267550.2(TTN):c.106496G>A (p.Gly35499Glu)
NM_001267550.2(TTN):c.106511G>T (p.Ser35504Ile)
NM_001267550.2(TTN):c.106514G>A (p.Cys35505Tyr) rs2154132356
NM_001267550.2(TTN):c.106517A>C (p.Lys35506Thr)
NM_001267550.2(TTN):c.106525A>G (p.Ile35509Val) rs1553482514
NM_001267550.2(TTN):c.106526T>C (p.Ile35509Thr) rs1447572736
NM_001267550.2(TTN):c.106531+5G>T
NM_001267550.2(TTN):c.106546G>A (p.Glu35516Lys)
NM_001267550.2(TTN):c.106553A>G (p.Gln35518Arg)
NM_001267550.2(TTN):c.106558G>A (p.Val35520Ile)
NM_001267550.2(TTN):c.106565C>A (p.Thr35522Lys)
NM_001267550.2(TTN):c.106567C>A (p.Gln35523Lys) rs1019567796
NM_001267550.2(TTN):c.106571A>G (p.Lys35524Arg)
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)
NM_001267550.2(TTN):c.106573A>G (p.Thr35525Ala) rs1575198568
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer) rs768256269
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val) rs386653129
NM_001267550.2(TTN):c.10657A>G (p.Thr3553Ala) rs1553969472
NM_001267550.2(TTN):c.106588C>A (p.Pro35530Thr)
NM_001267550.2(TTN):c.106592A>G (p.Gln35531Arg) rs1687861665
NM_001267550.2(TTN):c.106600G>A (p.Ala35534Thr)
NM_001267550.2(TTN):c.106601C>T (p.Ala35534Val) rs878854284
NM_001267550.2(TTN):c.106602TGT[1] (p.Val35536del)
NM_001267550.2(TTN):c.106603G>A (p.Val35535Ile) rs1553481274
NM_001267550.2(TTN):c.106607T>C (p.Val35536Ala)
NM_001267550.2(TTN):c.106610A>G (p.Gln35537Arg)
NM_001267550.2(TTN):c.106612G>C (p.Glu35538Gln) rs968812751
NM_001267550.2(TTN):c.106642G>A (p.Glu35548Lys)
NM_001267550.2(TTN):c.106648A>G (p.Ile35550Val) rs1558973830
NM_001267550.2(TTN):c.106654A>T (p.Met35552Leu)
NM_001267550.2(TTN):c.106655T>G (p.Met35552Arg) rs2154131569
NM_001267550.2(TTN):c.106660G>C (p.Glu35554Gln) rs1165517840
NM_001267550.2(TTN):c.106661A>G (p.Glu35554Gly)
NM_001267550.2(TTN):c.106670C>T (p.Ser35557Phe) rs760531226
NM_001267550.2(TTN):c.106679A>T (p.Lys35560Met)
NM_001267550.2(TTN):c.106681T>A (p.Leu35561Ile)
NM_001267550.2(TTN):c.106691A>G (p.Lys35564Arg)
NM_001267550.2(TTN):c.106708G>A (p.Val35570Ile)
NM_001267550.2(TTN):c.106712T>C (p.Leu35571Pro)
NM_001267550.2(TTN):c.106715T>A (p.Ile35572Asn)
NM_001267550.2(TTN):c.106723G>A (p.Glu35575Lys) rs886055217
NM_001267550.2(TTN):c.106723G>C (p.Glu35575Gln)
NM_001267550.2(TTN):c.106724A>C (p.Glu35575Ala)
NM_001267550.2(TTN):c.106727T>G (p.Val35576Gly) rs144188176
NM_001267550.2(TTN):c.106735T>G (p.Ser35579Ala)
NM_001267550.2(TTN):c.106738G>A (p.Ala35580Thr)
NM_001267550.2(TTN):c.106751T>C (p.Leu35584Pro)
NM_001267550.2(TTN):c.106753G>A (p.Glu35585Lys)
NM_001267550.2(TTN):c.106765G>A (p.Val35589Ile) rs745560169
NM_001267550.2(TTN):c.106766T>C (p.Val35589Ala)
NM_001267550.2(TTN):c.106770T>G (p.His35590Gln) rs1052651705
NM_001267550.2(TTN):c.106771G>C (p.Glu35591Gln) rs935554305
NM_001267550.2(TTN):c.106774G>A (p.Glu35592Lys)
NM_001267550.2(TTN):c.106783A>G (p.Lys35595Glu)
NM_001267550.2(TTN):c.106789T>C (p.Ser35597Pro)
NM_001267550.2(TTN):c.106792C>G (p.Gln35598Glu) rs767339203
NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)
NM_001267550.2(TTN):c.106795G>T (p.Ala35599Ser)
NM_001267550.2(TTN):c.106801G>A (p.Glu35601Lys) rs1558972236
NM_001267550.2(TTN):c.106835T>C (p.Phe35612Ser)
NM_001267550.2(TTN):c.106836T>G (p.Phe35612Leu)
NM_001267550.2(TTN):c.106841C>G (p.Thr35614Ser) rs2154131436
NM_001267550.2(TTN):c.106852A>G (p.Ile35618Val) rs2154131431
NM_001267550.2(TTN):c.106854A>G (p.Ile35618Met)
NM_001267550.2(TTN):c.106857C>A (p.Asn35619Lys) rs116604145
NM_001267550.2(TTN):c.106889T>C (p.Ile35630Thr)
NM_001267550.2(TTN):c.106894G>A (p.Gly35632Ser)
NM_001267550.2(TTN):c.106894G>C (p.Gly35632Arg)
NM_001267550.2(TTN):c.106895G>T (p.Gly35632Val) rs1210557316
NM_001267550.2(TTN):c.106903G>A (p.Asp35635Asn)
NM_001267550.2(TTN):c.106910A>G (p.Lys35637Arg)
NM_001267550.2(TTN):c.106911A>T (p.Lys35637Asn) rs767045071
NM_001267550.2(TTN):c.106912T>C (p.Trp35638Arg) rs1408667252
NM_001267550.2(TTN):c.106915G>A (p.Val35639Ile) rs557752216
NM_001267550.2(TTN):c.106915G>C (p.Val35639Leu)
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro) rs750550267
NM_001267550.2(TTN):c.106919T>G (p.Leu35640Arg)
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.106928T>C (p.Val35643Ala)
NM_001267550.2(TTN):c.106930G>A (p.Glu35644Lys)
NM_001267550.2(TTN):c.106930G>C (p.Glu35644Gln)
NM_001267550.2(TTN):c.106931A>G (p.Glu35644Gly)
NM_001267550.2(TTN):c.106940A>C (p.Asn35647Thr)
NM_001267550.2(TTN):c.106940A>G (p.Asn35647Ser)
NM_001267550.2(TTN):c.106948G>A (p.Glu35650Lys)
NM_001267550.2(TTN):c.106957T>G (p.Tyr35653Asp) rs886042500
NM_001267550.2(TTN):c.106969G>A (p.Gly35657Ser) rs2154131322
NM_001267550.2(TTN):c.106974C>A (p.Ser35658Arg)
NM_001267550.2(TTN):c.106977T>G (p.Asp35659Glu)
NM_001267550.2(TTN):c.106984C>A (p.Leu35662Ile) rs2154131306
NM_001267550.2(TTN):c.106988C>G (p.Thr35663Ser)
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val) rs781108499
NM_001267550.2(TTN):c.106991T>G (p.Ile35664Ser) rs1060500501
NM_001267550.2(TTN):c.106996C>A (p.Gln35666Lys)
NM_001267550.2(TTN):c.107000C>G (p.Ala35667Gly)
NM_001267550.2(TTN):c.107002A>C (p.Ser35668Arg)
NM_001267550.2(TTN):c.107003G>A (p.Ser35668Asn) rs1687674300
NM_001267550.2(TTN):c.107009G>A (p.Arg35670Lys) rs534961012
NM_001267550.2(TTN):c.107023C>T (p.Leu35675Phe)
NM_001267550.2(TTN):c.107027C>T (p.Thr35676Ile)
NM_001267550.2(TTN):c.107032A>G (p.Ile35678Val)
NM_001267550.2(TTN):c.107046G>C (p.Lys35682Asn)
NM_001267550.2(TTN):c.107053A>G (p.Ile35685Val)
NM_001267550.2(TTN):c.107059A>C (p.Lys35687Gln) rs2154131240
NM_001267550.2(TTN):c.107066A>G (p.Gln35689Arg) rs1451601178
NM_001267550.2(TTN):c.107093T>A (p.Leu35698His)
NM_001267550.2(TTN):c.107098G>A (p.Asp35700Asn) rs1575190768
NM_001267550.2(TTN):c.107099A>G (p.Asp35700Gly) rs1060500391
NM_001267550.2(TTN):c.107101G>A (p.Ala35701Thr)
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu) rs71423567
NM_001267550.2(TTN):c.107125A>G (p.Arg35709Gly)
NM_001267550.2(TTN):c.107126G>T (p.Arg35709Ile)
NM_001267550.2(TTN):c.107143G>A (p.Glu35715Lys)
NM_001267550.2(TTN):c.107158C>A (p.Leu35720Ile)
NM_001267550.2(TTN):c.107173A>G (p.Ile35725Val) rs1687594887
NM_001267550.2(TTN):c.107181C>G (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107181C>T (p.Gly35727=) rs762859509
NM_001267550.2(TTN):c.107191C>T (p.Pro35731Ser) rs1687589442
NM_001267550.2(TTN):c.107195A>G (p.Glu35732Gly)
NM_001267550.2(TTN):c.107199C>G (p.Ile35733Met) rs776237176
NM_001267550.2(TTN):c.107209A>C (p.Lys35737Gln) rs1687580805
NM_001267550.2(TTN):c.107217C>A (p.Asn35739Lys)
NM_001267550.2(TTN):c.107221C>G (p.Pro35741Ala) rs1455118621
NM_001267550.2(TTN):c.107223+3A>C rs2154131091
NM_001267550.2(TTN):c.107223A>G (p.Pro35741=)
NM_001267550.2(TTN):c.107225T>C (p.Ile35742Thr) rs1553479315
NM_001267550.2(TTN):c.107234C>A (p.Ser35745Tyr) rs2154130964
NM_001267550.2(TTN):c.107239A>T (p.Asn35747Tyr)
NM_001267550.2(TTN):c.107246G>C (p.Ser35749Thr)
NM_001267550.2(TTN):c.107248A>G (p.Ile35750Val)
NM_001267550.2(TTN):c.107261G>A (p.Arg35754Lys)
NM_001267550.2(TTN):c.107269T>C (p.Tyr35757His) rs2154130935
NM_001267550.2(TTN):c.107273C>T (p.Ser35758Phe)
NM_001267550.2(TTN):c.107288A>C (p.Asn35763Thr) rs1687455146
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser) rs879048717
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg) rs1558965303
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
NM_001267550.2(TTN):c.107314T>C (p.Tyr35772His)
NM_001267550.2(TTN):c.107318C>A (p.Thr35773Lys)
NM_001267550.2(TTN):c.107321T>C (p.Ile35774Thr) rs2154130889
NM_001267550.2(TTN):c.107325_107328delinsAATT (p.Ala35776Ile)
NM_001267550.2(TTN):c.107337C>G (p.Phe35779Leu) rs1687437542
NM_001267550.2(TTN):c.107342G>C (p.Gly35781Ala)
NM_001267550.2(TTN):c.107346G>C (p.Gln35782His)
NM_001267550.2(TTN):c.107348G>T (p.Cys35783Phe) rs1473450556
NM_001267550.2(TTN):c.107353G>T (p.Ala35785Ser)
NM_001267550.2(TTN):c.107356A>G (p.Thr35786Ala)
NM_001267550.2(TTN):c.107366T>C (p.Leu35789Ser)
NM_001267550.2(TTN):c.107370G>C (p.Met35790Ile)
NM_001267550.2(TTN):c.107372T>C (p.Val35791Ala)
NM_001267550.2(TTN):c.107377+3A>G
NM_001267550.2(TTN):c.107377C>T (p.Pro35793Ser) rs1337678636
NM_001267550.2(TTN):c.107378-3C>G rs762133725
NM_001267550.2(TTN):c.107387A>C (p.Glu35796Ala) rs1553478042
NM_001267550.2(TTN):c.107391A>C (p.Glu35797Asp)
NM_001267550.2(TTN):c.107392C>A (p.Pro35798Thr) rs780544430
NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser) rs780544430
NM_001267550.2(TTN):c.107393C>A (p.Pro35798His)
NM_001267550.2(TTN):c.107395T>C (p.Ser35799Pro)
NM_001267550.2(TTN):c.107405T>C (p.Val35802Ala)
NM_001267550.2(TTN):c.107411T>C (p.Leu35804Ser) rs2154130341
NM_001267550.2(TTN):c.107422G>A (p.Gly35808Ser) rs2154130329
NM_001267550.2(TTN):c.107429C>T (p.Thr35810Ile)
NM_001267550.2(TTN):c.107436G>T (p.Leu35812Phe)
NM_001267550.2(TTN):c.107441G>A (p.Gly35814Glu)
NM_001267550.2(TTN):c.107446T>A (p.Phe35816Ile)
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
NM_001267550.2(TTN):c.107468T>C (p.Met35823Thr)
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
NM_001267550.2(TTN):c.107470T>C (p.Ser35824Pro)
NM_001267550.2(TTN):c.107481G>C (p.Lys35827Asn) rs1255811280
NM_001267550.2(TTN):c.107487G>C (p.Glu35829Asp) rs2154130286
NM_001267550.2(TTN):c.107498_107499delinsAA (p.Ser35833Lys) rs1687011687
NM_001267550.2(TTN):c.107501G>A (p.Ser35834Asn)
NM_001267550.2(TTN):c.107504T>G (p.Phe35835Cys) rs1687009141
NM_001267550.2(TTN):c.107506A>C (p.Ser35836Arg) rs1687008231
NM_001267550.2(TTN):c.107509A>T (p.Ser35837Cys) rs1232738337
NM_001267550.2(TTN):c.107510G>A (p.Ser35837Asn) rs2154130270
NM_001267550.2(TTN):c.107512A>G (p.Ser35838Gly) rs1575176926
NM_001267550.2(TTN):c.107516G>A (p.Ser35839Asn)
NM_001267550.2(TTN):c.107524A>G (p.Ser35842Gly)
NM_001267550.2(TTN):c.107529G>A (p.Met35843Ile)
NM_001267550.2(TTN):c.107540A>G (p.Lys35847Arg) rs1575176578
NM_001267550.2(TTN):c.107552T>A (p.Met35851Lys)
NM_001267550.2(TTN):c.107557G>A (p.Ala35853Thr) rs1553477669
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile) rs1053387515
NM_001267550.2(TTN):c.107565C>G (p.Ser35855Arg) rs1469711405
NM_001267550.2(TTN):c.107577G>A (p.Met35859Ile) rs772602914
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del) rs751689670
NM_001267550.2(TTN):c.107590G>C (p.Val35864Leu) rs746430344
NM_001267550.2(TTN):c.107595A>C (p.Glu35865Asp) rs1686972976
NM_001267550.2(TTN):c.107614A>G (p.Met35872Val)
NM_001267550.2(TTN):c.107623T>C (p.Ser35875Pro)
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1575175498
NM_001267550.2(TTN):c.107631G>A (p.Met35877Ile) rs1686957619
NM_001267550.2(TTN):c.107632A>G (p.Thr35878Ala)
NM_001267550.2(TTN):c.107633C>T (p.Thr35878Ile) rs1686956801
NM_001267550.2(TTN):c.107642A>G (p.Glu35881Gly) rs1686954050
NM_001267550.2(TTN):c.107645G>T (p.Ser35882Ile)
NM_001267550.2(TTN):c.107653A>G (p.Ser35885Gly)
NM_001267550.2(TTN):c.107658A>C (p.Lys35886Asn)
NM_001267550.2(TTN):c.107674A>C (p.Ile35892Leu)
NM_001267550.2(TTN):c.107680+4A>C
NM_001267550.2(TTN):c.107681-3A>C
NM_001267550.2(TTN):c.107684T>C (p.Ile35895Thr) rs2154130013
NM_001267550.2(TTN):c.107687C>T (p.Pro35896Leu) rs767565621
NM_001267550.2(TTN):c.107690C>G (p.Pro35897Arg) rs1558956138
NM_001267550.2(TTN):c.107690C>T (p.Pro35897Leu) rs1558956138
NM_001267550.2(TTN):c.107701_107844del (p.Ala35901_Glu35948del) rs1686739585
NM_001267550.2(TTN):c.107702C>T (p.Ala35901Val)
NM_001267550.2(TTN):c.107707C>T (p.Pro35903Ser)
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.107714A>G (p.Asp35905Gly) rs1558955826
NM_001267550.2(TTN):c.107716A>G (p.Ile35906Val) rs1558955770
NM_001267550.2(TTN):c.107717T>C (p.Ile35906Thr) rs1686809478
NM_001267550.2(TTN):c.107726A>G (p.Asp35909Gly) rs1686804657
NM_001267550.2(TTN):c.107727T>A (p.Asp35909Glu)
NM_001267550.2(TTN):c.107741T>C (p.Leu35914Pro)
NM_001267550.2(TTN):c.107743A>C (p.Thr35915Pro)
NM_001267550.2(TTN):c.107746G>C (p.Val35916Leu) rs1686792927
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala) rs2154129959
NM_001267550.2(TTN):c.107762C>A (p.Thr35921Lys) rs749277200
NM_001267550.2(TTN):c.107768A>C (p.Glu35923Ala) rs2154129939
NM_001267550.2(TTN):c.107770C>A (p.Pro35924Thr)
NM_001267550.2(TTN):c.107770C>G (p.Pro35924Ala)
NM_001267550.2(TTN):c.107774C>A (p.Thr35925Asn) rs755111765
NM_001267550.2(TTN):c.107777C>T (p.Pro35926Leu)
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
NM_001267550.2(TTN):c.107786C>A (p.Thr35929Lys)
NM_001267550.2(TTN):c.107788T>C (p.Trp35930Arg) rs1018591024
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg) rs368277535
NM_001267550.2(TTN):c.107810T>G (p.Ile35937Ser)
NM_001267550.2(TTN):c.107811C>G (p.Ile35937Met)
NM_001267550.2(TTN):c.107817T>G (p.Ser35939Arg)
NM_001267550.2(TTN):c.107821G>C (p.Glu35941Gln)
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile) rs1575169924
NM_001267550.2(TTN):c.107835C>G (p.Phe35945Leu) rs2154129860
NM_001267550.2(TTN):c.107836C>T (p.His35946Tyr) rs1686745897
NM_001267550.2(TTN):c.107839A>G (p.Ile35947Val) rs1553476576
NM_001267550.2(TTN):c.107840T>C (p.Ile35947Thr) rs281864928
NM_001267550.2(TTN):c.107840T>G (p.Ile35947Ser) rs281864928
NM_001267550.2(TTN):c.107842_107844dup (p.Glu35948dup) rs2154129846
NM_001267550.2(TTN):c.107844A>C (p.Glu35948Asp)
NM_001267550.2(TTN):c.107851G>T (p.Asp35951Tyr) rs2154129841
NM_001267550.2(TTN):c.107861_107869del (p.Thr35954_Leu35956del)
NM_001267550.2(TTN):c.107864C>T (p.Thr35955Ile) rs370267738
NM_001267550.2(TTN):c.107870T>C (p.Ile35957Thr)
NM_001267550.2(TTN):c.107871C>G (p.Ile35957Met)
NM_001267550.2(TTN):c.107873T>A (p.Ile35958Asn)
NM_001267550.2(TTN):c.107875A>G (p.Met35959Val) rs1220326083
NM_001267550.2(TTN):c.107881G>A (p.Val35961Ile) rs780886524
NM_001267550.2(TTN):c.107903T>C (p.Leu35968Pro) rs1686710377
NM_001267550.2(TTN):c.107903T>G (p.Leu35968Arg) rs1686710377
NM_001267550.2(TTN):c.107909C>T (p.Thr35970Ile) rs765869850
NM_001267550.2(TTN):c.107911_107912del (p.Leu35971fs) rs2154129791
NM_001267550.2(TTN):c.107912T>A (p.Leu35971Gln) rs1686706196
NM_001267550.2(TTN):c.107923A>C (p.Asn35975His)
NM_001267550.2(TTN):c.107926G>T (p.Glu35976Ter) rs1259397789
NM_001267550.2(TTN):c.107933G>A (p.Gly35978Glu) rs2154129775
NM_001267550.2(TTN):c.107947A>C (p.Thr35983Pro)
NM_001267550.2(TTN):c.107960A>G (p.His35987Arg)
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter) rs770506970
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter) rs374300381
NM_001267550.2(TTN):c.10825G>T (p.Glu3609Ter)
NM_001267550.2(TTN):c.10834G>C (p.Val3612Leu) rs1352067592
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.11191del (p.Ser3731fs)
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn) rs1243794346
NM_001267550.2(TTN):c.11252_11253delinsAA (p.Gly3751Glu) rs1553967105
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.11311+1080del rs58651353
NM_001267550.2(TTN):c.11311+1830G>C
NM_001267550.2(TTN):c.11311+1872G>C
NM_001267550.2(TTN):c.11311+2263dup
NM_001267550.2(TTN):c.11311G>A (p.Glu3771Lys)
NM_001267550.2(TTN):c.11324C>T (p.Ser3775Phe) rs892763465
NM_001267550.2(TTN):c.11341G>C (p.Glu3781Gln) rs773793548
NM_001267550.2(TTN):c.11444del (p.Lys3815fs) rs1574099951
NM_001267550.2(TTN):c.11825A>C (p.Lys3942Thr) rs1060500569
NM_001267550.2(TTN):c.11843G>T (p.Arg3948Leu) rs775618077
NM_001267550.2(TTN):c.1185C>A (p.Ala395=) rs372346898
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr) rs200052202
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met) rs1017307763
NM_001267550.2(TTN):c.118T>C (p.Phe40Leu) rs1554045595
NM_001267550.2(TTN):c.11903C>T (p.Thr3968Ile) rs1416083040
NM_001267550.2(TTN):c.12066T>G (p.Cys4022Trp) rs931245340
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser) rs758968807
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)
NM_001267550.2(TTN):c.1224T>C (p.Ala408=) rs2093688642
NM_001267550.2(TTN):c.12319del (p.Leu4107fs) rs2154318463
NM_001267550.2(TTN):c.12321del (p.Pro4108fs)
NM_001267550.2(TTN):c.12347C>A (p.Ser4116Tyr)
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) rs1057518931
NM_001267550.2(TTN):c.12679A>T (p.Thr4227Ser) rs1553939161
NM_001267550.2(TTN):c.12680C>A (p.Thr4227Asn) rs777055785
NM_001267550.2(TTN):c.12766G>A (p.Glu4256Lys) rs1560908997
NM_001267550.2(TTN):c.12817G>A (p.Glu4273Lys) rs1553938808
NM_001267550.2(TTN):c.12823C>T (p.Leu4275Phe) rs773905874
NM_001267550.2(TTN):c.12895G>C (p.Glu4299Gln) rs1430420761
NM_001267550.2(TTN):c.12937A>G (p.Asn4313Asp) rs1553938408
NM_001267550.2(TTN):c.12972del (p.Gly4325fs) rs2082260794
NM_001267550.2(TTN):c.1301A>T (p.Asp434Val) rs1478114976
NM_001267550.2(TTN):c.13075T>C (p.Ser4359Pro) rs1060500434
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs) rs2082227467
NM_001267550.2(TTN):c.13128C>A (p.Asp4376Glu) rs759726422
NM_001267550.2(TTN):c.1318G>A (p.Glu440Lys) rs747410439
NM_001267550.2(TTN):c.13265T>G (p.Ile4422Ser) rs727503656
NM_001267550.2(TTN):c.13435G>A (p.Ala4479Thr) rs776871094
NM_001267550.2(TTN):c.13459A>G (p.Ile4487Val) rs1553937057
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg) rs878854287
NM_001267550.2(TTN):c.13523A>G (p.Asp4508Gly)
NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro) rs2154355944
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) rs200422152
NM_001267550.2(TTN):c.13821G>T (p.Met4607Ile) rs1553936266
NM_001267550.2(TTN):c.13934C>A (p.Pro4645His) rs1553936055
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.13945A>G (p.Lys4649Glu) rs1060500392
NM_001267550.2(TTN):c.1398+320_1624del
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.1398G>A (p.Gln466=)
NM_001267550.2(TTN):c.14014C>A (p.Gln4672Lys) rs1553935908
NM_001267550.2(TTN):c.14118C>G (p.Ile4706Met) rs267599072
NM_001267550.2(TTN):c.14153A>G (p.Lys4718Arg) rs753558755
NM_001267550.2(TTN):c.14171A>G (p.Gln4724Arg) rs1553934896
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=)
NM_001267550.2(TTN):c.14320G>A (p.Ala4774Thr) rs1404878972
NM_001267550.2(TTN):c.14371+3A>G rs2154316576
NM_001267550.2(TTN):c.14371G>A (p.Glu4791Lys)
NM_001267550.2(TTN):c.14372-2A>G
NM_001267550.2(TTN):c.14392C>T (p.Leu4798Phe) rs2081388048
NM_001267550.2(TTN):c.14510C>G (p.Pro4837Arg)
NM_001267550.2(TTN):c.14709G>C (p.Lys4903Asn) rs1060500444
NM_001267550.2(TTN):c.14710A>T (p.Lys4904Ter) rs1560853002
NM_001267550.2(TTN):c.14713G>T (p.Val4905Phe) rs774495507
NM_001267550.2(TTN):c.14753C>T (p.Thr4918Ile) rs749179515
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala) rs201744218
NM_001267550.2(TTN):c.14860G>C (p.Asp4954His) rs1443901302
NM_001267550.2(TTN):c.15007T>A (p.Cys5003Ser) rs1553930348
NM_001267550.2(TTN):c.15113T>C (p.Ile5038Thr)
NM_001267550.2(TTN):c.15177C>A (p.Asp5059Glu) rs74607159
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15181G>T (p.Gly5061Cys) rs1441268700
NM_001267550.2(TTN):c.15224C>T (p.Pro5075Leu) rs1553929816
NM_001267550.2(TTN):c.15263G>A (p.Arg5088Lys) rs766300782
NM_001267550.2(TTN):c.15277C>G (p.Leu5093Val) rs764663290
NM_001267550.2(TTN):c.1536+3G>A rs1414333301
NM_001267550.2(TTN):c.15361T>C (p.Tyr5121His)
NM_001267550.2(TTN):c.1537-1G>C
NM_001267550.2(TTN):c.15464A>C (p.Lys5155Thr) rs727504207
NM_001267550.2(TTN):c.15475A>G (p.Met5159Val) rs1553929310
NM_001267550.2(TTN):c.15496+4A>G
NM_001267550.2(TTN):c.15496+5G>C
NM_001267550.2(TTN):c.15497-2A>G rs1232334931
NM_001267550.2(TTN):c.15497-4C>G rs2080975329
NM_001267550.2(TTN):c.15605T>C (p.Met5202Thr) rs764755768
NM_001267550.2(TTN):c.15942T>C (p.Asn5314=) rs1311178060
NM_001267550.2(TTN):c.15952del (p.Leu5318fs) rs778392667
NM_001267550.2(TTN):c.16023C>A (p.Ser5341Arg) rs1553927522
NM_001267550.2(TTN):c.16055-3C>G
NM_001267550.2(TTN):c.16093A>C (p.Asn5365His) rs878854288
NM_001267550.2(TTN):c.16133G>A (p.Cys5378Tyr) rs754271006
NM_001267550.2(TTN):c.16138A>G (p.Ile5380Val) rs1280725528
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) rs758704167
NM_001267550.2(TTN):c.1621_1622insCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAACTAGAATTTCTG (p.Glu541delinsAlaLeuLeuValPheLeuArgPheValLysAspGlnIleValValAspMetArgHisTyrPheTer) rs2093537697
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=) rs772821743
NM_001267550.2(TTN):c.16342+5G>A
NM_001267550.2(TTN):c.16342+5G>C rs950440116
NM_001267550.2(TTN):c.16446A>G (p.Arg5482=) rs1426268579
NM_001267550.2(TTN):c.16489T>A (p.Tyr5497Asn) rs1279249843
NM_001267550.2(TTN):c.16563A>C (p.Thr5521=) rs886055297
NM_001267550.2(TTN):c.1662+5G>A rs1021479898
NM_001267550.2(TTN):c.16622-3C>G
NM_001267550.2(TTN):c.16693T>C (p.Cys5565Arg) rs1228967454
NM_001267550.2(TTN):c.16776G>A (p.Met5592Ile) rs879188937
NM_001267550.2(TTN):c.16834G>A (p.Gly5612Ser) rs1060500588
NM_001267550.2(TTN):c.1683A>G (p.Ile561Met) rs1321890564
NM_001267550.2(TTN):c.1688C>T (p.Ala563Val) rs2093449486
NM_001267550.2(TTN):c.16907C>T (p.Ser5636Leu) rs1553925181
NM_001267550.2(TTN):c.1696A>G (p.Met566Val) rs987302368
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)
NM_001267550.2(TTN):c.17201AGA[1] (p.Lys5735del) rs1060500441
NM_001267550.2(TTN):c.17213G>A (p.Ser5738Asn) rs1060500502
NM_001267550.2(TTN):c.17278del (p.Thr5760fs) rs2080494323
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile) rs1553924253
NM_001267550.2(TTN):c.17364C>T (p.Tyr5788=) rs2080475152
NM_001267550.2(TTN):c.17396A>G (p.Lys5799Arg) rs572678771
NM_001267550.2(TTN):c.17423C>T (p.Ala5808Val) rs1409068952
NM_001267550.2(TTN):c.17461+5G>C
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile) rs2154308873
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu) rs747286444
NM_001267550.2(TTN):c.17773C>A (p.Leu5925Met) rs750909367
NM_001267550.2(TTN):c.17875A>G (p.Ile5959Val) rs1060500508
NM_001267550.2(TTN):c.17992G>A (p.Gly5998Arg) rs757934638
NM_001267550.2(TTN):c.18001C>T (p.Gln6001Ter) rs765081807
NM_001267550.2(TTN):c.18028+6C>A
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs) rs2080219754
NM_001267550.2(TTN):c.18089A>G (p.Gln6030Arg) rs1560784359
NM_001267550.2(TTN):c.18307G>C (p.Glu6103Gln)
NM_001267550.2(TTN):c.18317A>G (p.Gln6106Arg) rs1553921829
NM_001267550.2(TTN):c.18325A>T (p.Lys6109Ter)
NM_001267550.2(TTN):c.18364T>C (p.Ser6122Pro) rs2080087332
NM_001267550.2(TTN):c.18371C>A (p.Thr6124Lys) rs1280788914
NM_001267550.2(TTN):c.18391_18394del (p.Gly6131fs) rs2154307613
NM_001267550.2(TTN):c.18411_18412insSVAelement
NM_001267550.2(TTN):c.18472G>A (p.Asp6158Asn) rs2080068286
NM_001267550.2(TTN):c.18493A>G (p.Ile6165Val) rs886055296
NM_001267550.2(TTN):c.18589G>A (p.Glu6197Lys)
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) rs794727818
NM_001267550.2(TTN):c.18677C>A (p.Pro6226His) rs746345160
NM_001267550.2(TTN):c.18690C>T (p.Val6230=) rs754536598
NM_001267550.2(TTN):c.18736A>G (p.Thr6246Ala) rs1553920950
NM_001267550.2(TTN):c.18868+5G>C
NM_001267550.2(TTN):c.18887A>G (p.Lys6296Arg) rs1553920476
NM_001267550.2(TTN):c.18950G>T (p.Gly6317Val) rs1060500522
NM_001267550.2(TTN):c.1923A>C (p.Gln641His) rs886055308
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser) rs374964612
NM_001267550.2(TTN):c.19370T>C (p.Phe6457Ser) rs2079785463
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala) rs1560756818
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp) rs763912778
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)
NM_001267550.2(TTN):c.19877G>A (p.Gly6626Glu) rs1362220931
NM_001267550.2(TTN):c.19992A>G (p.Thr6664=) rs1560749476
NM_001267550.2(TTN):c.19993+5G>A rs907914759
NM_001267550.2(TTN):c.19993+6C>T
NM_001267550.2(TTN):c.19994-7T>G rs1292778822
NM_001267550.2(TTN):c.20035G>A (p.Val6679Met) rs1553917765
NM_001267550.2(TTN):c.20185A>G (p.Asn6729Asp) rs794729619
NM_001267550.2(TTN):c.20276-5del rs779654489
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr) rs886055295
NM_001267550.2(TTN):c.20455C>T (p.His6819Tyr) rs1553916130
NM_001267550.2(TTN):c.20484C>G (p.Ile6828Met) rs563320328
NM_001267550.2(TTN):c.20626T>A (p.Ser6876Thr) rs1359024577
NM_001267550.2(TTN):c.20707A>G (p.Ile6903Val) rs571675433
NM_001267550.2(TTN):c.2073A>T (p.Gly691=) rs72647860
NM_001267550.2(TTN):c.2076G>A (p.Lys692=) rs1333188525
NM_001267550.2(TTN):c.20772G>T (p.Lys6924Asn) rs369993514
NM_001267550.2(TTN):c.20836+3del
NM_001267550.2(TTN):c.2083G>T (p.Val695Phe) rs747479318
NM_001267550.2(TTN):c.20904G>T (p.Glu6968Asp) rs2078993063
NM_001267550.2(TTN):c.21068A>C (p.Gln7023Pro)
NM_001267550.2(TTN):c.21114A>C (p.Ser7038=) rs879237670
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys) rs773211607
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile) rs878978917
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.21403+5G>A rs1560709207
NM_001267550.2(TTN):c.21403G>A (p.Glu7135Lys) rs779787316
NM_001267550.2(TTN):c.21488C>A (p.Thr7163Asn) rs370324138
NM_001267550.2(TTN):c.21506A>C (p.Asn7169Thr) rs786205314
NM_001267550.2(TTN):c.2162G>C (p.Gly721Ala) rs1554022851
NM_001267550.2(TTN):c.21641A>G (p.Asn7214Ser) rs755600935
NM_001267550.2(TTN):c.21705A>T (p.Arg7235Ser) rs772506057
NM_001267550.2(TTN):c.21799G>A (p.Gly7267Ser) rs772450876
NM_001267550.2(TTN):c.21907G>C (p.Glu7303Gln) rs774950387
NM_001267550.2(TTN):c.21914A>C (p.Glu7305Ala) rs1553911785
NM_001267550.2(TTN):c.21964C>T (p.Pro7322Ser) rs1553911632
NM_001267550.2(TTN):c.22024T>G (p.Leu7342Val) rs1243764269
NM_001267550.2(TTN):c.22039G>A (p.Ala7347Thr) rs1553911494
NM_001267550.2(TTN):c.22114T>C (p.Tyr7372His)
NM_001267550.2(TTN):c.22163A>G (p.Asn7388Ser) rs1350328102
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.22343T>C (p.Ile7448Thr) rs878854293
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg) rs1060500493
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)
NM_001267550.2(TTN):c.22528+12C>T rs756012779
NM_001267550.2(TTN):c.22528+4del rs1578022549
NM_001267550.2(TTN):c.2254C>A (p.Arg752Ser)
NM_001267550.2(TTN):c.22659G>A (p.Lys7553=) rs2078449618
NM_001267550.2(TTN):c.22693T>C (p.Cys7565Arg) rs757611239
NM_001267550.2(TTN):c.22696G>A (p.Val7566Met) rs2078438102
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs) rs2154301477
NM_001267550.2(TTN):c.22725_22726insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGTTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCCCCGAGAATTCTT (p.Lys7576delinsPhePhePhePhePhePheXaaXaaXaaXaaProSerSerAlaSerLeuThrLeuGlyAlaValAspArgSerCysSerTyrSerAlaIleLeuAlaProProProGluAsnSerTer) rs2154301480
NM_001267550.2(TTN):c.22741G>T (p.Asp7581Tyr) rs1433348204
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs) rs1211248610
NM_001267550.2(TTN):c.22888T>C (p.Cys7630Arg) rs1553908536
NM_001267550.2(TTN):c.22982A>C (p.Asn7661Thr) rs2078278433
NM_001267550.2(TTN):c.23000C>G (p.Thr7667Arg) rs374430623
NM_001267550.2(TTN):c.2300G>A (p.Arg767Lys)
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23068G>T (p.Ala7690Ser) rs763029699
NM_001267550.2(TTN):c.23098+1G>T rs2154300949
NM_001267550.2(TTN):c.23098+3del rs2154300948
NM_001267550.2(TTN):c.23098G>T (p.Ala7700Ser)
NM_001267550.2(TTN):c.23147G>T (p.Gly7716Val) rs751284978
NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup) rs1451740768
NM_001267550.2(TTN):c.2320G>A (p.Glu774Lys) rs1554022511
NM_001267550.2(TTN):c.23305G>A (p.Val7769Ile) rs1553907172
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)
NM_001267550.2(TTN):c.23373C>A (p.Phe7791Leu) rs1553907020
NM_001267550.2(TTN):c.2341G>T (p.Asp781Tyr) rs1554022470
NM_001267550.2(TTN):c.23443C>T (p.Arg7815Trp) rs528264100
NM_001267550.2(TTN):c.23467C>A (p.Pro7823Thr) rs768540966
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.23587T>C (p.Ser7863Pro) rs1553906488
NM_001267550.2(TTN):c.23601A>G (p.Ile7867Met) rs1334032406
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.23654T>C (p.Val7885Ala) rs2078098721
NM_001267550.2(TTN):c.23660-13CTT[2] rs563250569
NM_001267550.2(TTN):c.23694G>A (p.Met7898Ile) rs751897366
NM_001267550.2(TTN):c.2370+5G>A
NM_001267550.2(TTN):c.2370+5G>C rs1554022409
NM_001267550.2(TTN):c.2370G>A (p.Gln790=)
NM_001267550.2(TTN):c.23729G>T (p.Cys7910Phe) rs763596594
NM_001267550.2(TTN):c.23797A>G (p.Ser7933Gly) rs1553905723
NM_001267550.2(TTN):c.23817C>G (p.Phe7939Leu) rs866647945
NM_001267550.2(TTN):c.23854G>A (p.Glu7952Lys)
NM_001267550.2(TTN):c.23938+5G>A
NM_001267550.2(TTN):c.23947G>A (p.Val7983Met) rs1060500564
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.23996G>C (p.Gly7999Ala) rs750389762
NM_001267550.2(TTN):c.24037C>A (p.Pro8013Thr) rs1553904936
NM_001267550.2(TTN):c.24137T>C (p.Leu8046Ser) rs1553904761
NM_001267550.2(TTN):c.24226+5G>T rs2077956888
NM_001267550.2(TTN):c.24226G>A (p.Glu8076Lys)
NM_001267550.2(TTN):c.24253G>A (p.Asp8085Asn) rs1553904192
NM_001267550.2(TTN):c.2435C>T (p.Ala812Val) rs372040052
NM_001267550.2(TTN):c.2447T>C (p.Phe816Ser) rs2093121464
NM_001267550.2(TTN):c.24505+5G>T
NM_001267550.2(TTN):c.24528A>G (p.Arg8176=) rs1162009739
NM_001267550.2(TTN):c.24692T>C (p.Leu8231Pro)
NM_001267550.2(TTN):c.24708_24710del (p.Glu8236del) rs771555243
NM_001267550.2(TTN):c.24784+3G>A rs2154299473
NM_001267550.2(TTN):c.24784+6T>G rs1560640894
NM_001267550.2(TTN):c.24891G>C (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.24891G>T (p.Trp8297Cys) rs727504205
NM_001267550.2(TTN):c.24962T>C (p.Leu8321Ser) rs1577952583
NM_001267550.2(TTN):c.24972C>A (p.Asn8324Lys) rs879030954
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001267550.2(TTN):c.2502A>G (p.Ile834Met) rs752214647
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val) rs747055472
NM_001267550.2(TTN):c.25063+5T>A rs1553902318
NM_001267550.2(TTN):c.2506G>T (p.Gly836Cys) rs751157908
NM_001267550.2(TTN):c.25105G>A (p.Val8369Ile) rs755722481
NM_001267550.2(TTN):c.25154G>C (p.Gly8385Ala) rs775560531
NM_001267550.2(TTN):c.25196T>C (p.Leu8399Pro) rs2077698375
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys) rs750195208
NM_001267550.2(TTN):c.25249C>T (p.Leu8417Phe) rs774234445
NM_001267550.2(TTN):c.25270C>G (p.Gln8424Glu) rs370668637
NM_001267550.2(TTN):c.25351+4A>G
NM_001267550.2(TTN):c.25351+5G>A
NM_001267550.2(TTN):c.25476T>A (p.Asp8492Glu) rs777349143
NM_001267550.2(TTN):c.25521A>G (p.Val8507=) rs886055293
NM_001267550.2(TTN):c.25600G>T (p.Ala8534Ser) rs779163897
NM_001267550.2(TTN):c.25639G>C (p.Glu8547Gln) rs1060500447
NM_001267550.2(TTN):c.25662_25663delinsTT (p.Lys8554Asn) rs1553898915
NM_001267550.2(TTN):c.25699A>G (p.Thr8567Ala) rs777832511
NM_001267550.2(TTN):c.25707_25708inv (p.Glu8570Lys)
NM_001267550.2(TTN):c.2575del (p.Ser858_Val859insTer)
NM_001267550.2(TTN):c.25784A>G (p.Lys8595Arg)
NM_001267550.2(TTN):c.25921+4A>G
NM_001267550.2(TTN):c.25921+6C>T
NM_001267550.2(TTN):c.25921G>A (p.Glu8641Lys) rs1553898323
NM_001267550.2(TTN):c.25937G>T (p.Arg8646Leu) rs144587343
NM_001267550.2(TTN):c.25971A>T (p.Gly8657=) rs1060500547
NM_001267550.2(TTN):c.26012C>T (p.Pro8671Leu) rs2077292301
NM_001267550.2(TTN):c.26068A>C (p.Lys8690Gln) rs1060500411
NM_001267550.2(TTN):c.26081A>C (p.Glu8694Ala) rs1553897407
NM_001267550.2(TTN):c.26093C>G (p.Thr8698Ser) rs1060500461
NM_001267550.2(TTN):c.26144G>T (p.Cys8715Phe) rs183499397
NM_001267550.2(TTN):c.26170G>A (p.Asp8724Asn) rs756034176
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn) rs1060500488
NM_001267550.2(TTN):c.26258T>G (p.Val8753Gly) rs867579263
NM_001267550.2(TTN):c.26261A>T (p.Gln8754Leu) rs1060500568
NM_001267550.2(TTN):c.26305T>G (p.Trp8769Gly) rs779847107
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)
NM_001267550.2(TTN):c.26482+5G>A rs1060500590
NM_001267550.2(TTN):c.26482G>A (p.Glu8828Lys)
NM_001267550.2(TTN):c.26597A>G (p.Asp8866Gly) rs2077094217
NM_001267550.2(TTN):c.26618A>G (p.Asp8873Gly) rs776032171
NM_001267550.2(TTN):c.26624A>T (p.Lys8875Ile)
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser) rs72648991
NM_001267550.2(TTN):c.26719C>G (p.Pro8907Ala) rs764261158
NM_001267550.2(TTN):c.26719C>T (p.Pro8907Ser) rs764261158
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[3] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.26762-9delins34
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe) rs878969676
NM_001267550.2(TTN):c.27030T>A (p.Ser9010Arg) rs774115714
NM_001267550.2(TTN):c.27121A>G (p.Ile9041Val) rs1395755933
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr) rs2076871733
NM_001267550.2(TTN):c.2716A>G (p.Ile906Val) rs1304074202
NM_001267550.2(TTN):c.27292G>A (p.Gly9098Ser)
NM_001267550.2(TTN):c.27310_27314del (p.Thr9104fs)
NM_001267550.2(TTN):c.27328+19C>G rs974890499
NM_001267550.2(TTN):c.27328+1del
NM_001267550.2(TTN):c.27328G>A (p.Ala9110Thr) rs2076840796
NM_001267550.2(TTN):c.27328G>C (p.Ala9110Pro)
NM_001267550.2(TTN):c.27328G>T (p.Ala9110Ser)
NM_001267550.2(TTN):c.27382C>A (p.Pro9128Thr) rs1283675898
NM_001267550.2(TTN):c.27385dup (p.Leu9129fs)
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro) rs376922544
NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn) rs727504202
NM_001267550.2(TTN):c.27532G>T (p.Asp9178Tyr) rs727504202
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr) rs886055307
NM_001267550.2(TTN):c.27602T>C (p.Ile9201Thr) rs911557684
NM_001267550.2(TTN):c.27607+5G>A rs2154295977
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) rs766638714
NM_001267550.2(TTN):c.2775+1G>T rs1057346353
NM_001267550.2(TTN):c.27856G>C (p.Val9286Leu) rs777547707
NM_001267550.2(TTN):c.27886+3G>A rs750753011
NM_001267550.2(TTN):c.278C>G (p.Ala93Gly) rs1473207810
NM_001267550.2(TTN):c.28032C>A (p.Ser9344Arg) rs1338895544
NM_001267550.2(TTN):c.28034C>T (p.Pro9345Leu) rs878854296
NM_001267550.2(TTN):c.28131C>A (p.Asn9377Lys) rs72648997
NM_001267550.2(TTN):c.28151C>G (p.Ser9384Cys) rs760466007
NM_001267550.2(TTN):c.28240G>T (p.Ala9414Ser) rs794729635
NM_001267550.2(TTN):c.2824C>T (p.Pro942Ser) rs1060500550
NM_001267550.2(TTN):c.28317T>C (p.Ser9439=) rs886055290
NM_001267550.2(TTN):c.28328A>T (p.Tyr9443Phe) rs1553888051
NM_001267550.2(TTN):c.28353C>G (p.Ser9451Arg) rs777096848
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro) rs527663092
NM_001267550.2(TTN):c.28383del (p.Gly9462fs) rs2154295037
NM_001267550.2(TTN):c.28391C>T (p.Ser9464Phe) rs1553887984
NM_001267550.2(TTN):c.28399T>C (p.Tyr9467His) rs2076528608
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.28433A>C (p.Asp9478Ala) rs1553887887
NM_001267550.2(TTN):c.28480A>T (p.Ser9494Cys) rs1553886767
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val) rs1060500482
NM_001267550.2(TTN):c.28674G>C (p.Met9558Ile) rs868771235
NM_001267550.2(TTN):c.28726C>G (p.Leu9576Val) rs780753483
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.28795G>A (p.Val9599Ile) rs887090503
NM_001267550.2(TTN):c.2882C>G (p.Thr961Ser) rs1554018432
NM_001267550.2(TTN):c.28856T>C (p.Ile9619Thr)
NM_001267550.2(TTN):c.29041+17_29041+18delinsT
NM_001267550.2(TTN):c.29048C>T (p.Pro9683Leu) rs794729399
NM_001267550.2(TTN):c.29134+3A>G rs2154292612
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser) rs4893852
NM_001267550.2(TTN):c.29185G>T (p.Val9729Phe) rs1060500451
NM_001267550.2(TTN):c.29230C>G (p.Arg9744Gly) rs375266859
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)
NM_001267550.2(TTN):c.29376G>A (p.Lys9792=) rs1560529237
NM_001267550.2(TTN):c.29464G>T (p.Asp9822Tyr) rs758873870
NM_001267550.2(TTN):c.29512_29513insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAATATGAAAAAT (p.Tyr9838delinsTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysArgIleTer) rs2154291624
NM_001267550.2(TTN):c.29597A>G (p.His9866Arg) rs878919397
NM_001267550.2(TTN):c.29694+5A>T
NM_001267550.2(TTN):c.29729C>T (p.Thr9910Ile) rs878854297
NM_001267550.2(TTN):c.29786A>G (p.Glu9929Gly) rs1340062320
NM_001267550.2(TTN):c.29857G>A (p.Gly9953Ser) rs770212603
NM_001267550.2(TTN):c.29965C>A (p.Pro9989Thr) rs1553877891
NM_001267550.2(TTN):c.29984T>A (p.Leu9995His) rs1060500554
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30139A>T (p.Ile10047Phe) rs1553877530
NM_001267550.2(TTN):c.30223+3G>A
NM_001267550.2(TTN):c.30223+5G>C
NM_001267550.2(TTN):c.30223G>C (p.Ala10075Pro)
NM_001267550.2(TTN):c.30224-8T>A
NM_001267550.2(TTN):c.30299A>C (p.Glu10100Ala) rs1060500579
NM_001267550.2(TTN):c.302C>T (p.Thr101Ile) rs879185669
NM_001267550.2(TTN):c.30325A>C (p.Thr10109Pro) rs2075197256
NM_001267550.2(TTN):c.30433+3G>C
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile) rs1553875094
NM_001267550.2(TTN):c.30440A>C (p.Tyr10147Ser) rs1577672002
NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln) rs375796685
NM_001267550.2(TTN):c.30456G>C (p.Arg10152=) rs764333790
NM_001267550.2(TTN):c.30487del (p.Ala10163fs) rs1560498923
NM_001267550.2(TTN):c.30503C>A (p.Thr10168Lys)
NM_001267550.2(TTN):c.30515T>A (p.Ile10172Asn) rs772028677
NM_001267550.2(TTN):c.30538+5G>A
NM_001267550.2(TTN):c.30538G>C (p.Asp10180His)
NM_001267550.2(TTN):c.30583G>T (p.Ala10195Ser) rs1060500585
NM_001267550.2(TTN):c.30598+4A>T rs1560494355
NM_001267550.2(TTN):c.30608C>G (p.Pro10203Arg) rs1344215902
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser) rs747294929
NM_001267550.2(TTN):c.3071T>G (p.Val1024Gly) rs879097187
NM_001267550.2(TTN):c.30754+1G>T rs914288774
NM_001267550.2(TTN):c.30781A>G (p.Thr10261Ala) rs1060500409
NM_001267550.2(TTN):c.30803-14T>C rs2073693398
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys) rs1553864504
NM_001267550.2(TTN):c.30978A>G (p.Val10326=) rs2073654294
NM_001267550.2(TTN):c.30994C>G (p.Pro10332Ala) rs757869762
NM_001267550.2(TTN):c.3100+1_3100+3dup
NM_001267550.2(TTN):c.3100+5G>A rs794729294
NM_001267550.2(TTN):c.31048G>A (p.Val10350Ile) rs1553864204
NM_001267550.2(TTN):c.3109G>T (p.Glu1037Ter)
NM_001267550.2(TTN):c.31207+5G>A rs876658051
NM_001267550.2(TTN):c.31207+5G>C
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser) rs397517537
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.31348+14C>T rs2073303724
NM_001267550.2(TTN):c.31380_31381insGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAAGATTGTTCCACAA (p.Lys10461delinsGlyGluGlyArgLeuCysProAlaAlaProThrGlyLysTer)
NM_001267550.2(TTN):c.31390C>T (p.Arg10464Trp) rs374555701
NM_001267550.2(TTN):c.313A>G (p.Asn105Asp)
NM_001267550.2(TTN):c.31426G>T (p.Val10476Leu)
NM_001267550.2(TTN):c.31433C>G (p.Ala10478Gly)
NM_001267550.2(TTN):c.31462G>A (p.Glu10488Lys) rs1553860513
NM_001267550.2(TTN):c.31473G>A (p.Met10491Ile) rs780137093
NM_001267550.2(TTN):c.31486C>G (p.His10496Asp) rs1553860465
NM_001267550.2(TTN):c.31525C>A (p.Gln10509Lys) rs1553859889
NM_001267550.2(TTN):c.31530G>T (p.Lys10510Asn) rs778911890
NM_001267550.2(TTN):c.31548G>A (p.Glu10516=) rs777887659
NM_001267550.2(TTN):c.31563_31564inv (p.Ile10522Val)
NM_001267550.2(TTN):c.31594G>T (p.Val10532Phe) rs763955552
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu) rs753460621
NM_001267550.2(TTN):c.3165-9T>C rs886055306
NM_001267550.2(TTN):c.31669G>T (p.Ala10557Ser) rs1553857863
NM_001267550.2(TTN):c.31753C>G (p.Pro10585Ala) rs2154280079
NM_001267550.2(TTN):c.31756C>G (p.Pro10586Ala) rs768652249
NM_001267550.2(TTN):c.31757C>G (p.Pro10586Arg) rs200459347
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu) rs200459347
NM_001267550.2(TTN):c.31762+4C>G rs368538884
NM_001267550.2(TTN):c.31762+5G>T rs145387989
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.31847-7C>T
NM_001267550.2(TTN):c.31857A>G (p.Val10619=) rs886055286
NM_001267550.2(TTN):c.31871T>C (p.Val10624Ala) rs2071792935
NM_001267550.2(TTN):c.31927+3A>C
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val) rs886055305
NM_001267550.2(TTN):c.32005C>A (p.Pro10669Thr) rs945424720
NM_001267550.2(TTN):c.32005C>T (p.Pro10669Ser) rs945424720
NM_001267550.2(TTN):c.32018C>G (p.Ala10673Gly) rs773935335
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val) rs794729407
NM_001267550.2(TTN):c.32095+3A>G
NM_001267550.2(TTN):c.32095+5G>C rs869312090
NM_001267550.2(TTN):c.32161G>T (p.Ala10721Ser) rs753365187
NM_001267550.2(TTN):c.32164G>A (p.Val10722Ile) rs763742779
NM_001267550.2(TTN):c.32189G>C (p.Arg10730Pro) rs771054923
NM_001267550.2(TTN):c.32296del (p.Val10766fs)
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met) rs549877654
NM_001267550.2(TTN):c.32371G>C (p.Val10791Leu) rs765062133
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32470+3A>G rs786205543
NM_001267550.2(TTN):c.32554+3A>G rs2070438723
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val) rs200732179
NM_001267550.2(TTN):c.32703G>A (p.Glu10901=) rs397517542
NM_001267550.2(TTN):c.32703_33665-50del
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln) rs73973137
NM_001267550.2(TTN):c.32761G>C (p.Val10921Leu) rs775126784
NM_001267550.2(TTN):c.32806G>A (p.Val10936Met)
NM_001267550.2(TTN):c.32872C>A (p.Pro10958Thr) rs2069920810
NM_001267550.2(TTN):c.32879C>A (p.Pro10960His) rs879029800
NM_001267550.2(TTN):c.32887+1G>T rs546105899
NM_001267550.2(TTN):c.32899A>G (p.Met10967Val) rs1392264858
NM_001267550.2(TTN):c.32930AAG[2] (p.Glu10979del) rs774683936
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33001G>A (p.Glu11001Lys)
NM_001267550.2(TTN):c.33094G>A (p.Glu11032Lys) rs2154271806
NM_001267550.2(TTN):c.33172+3A>T
NM_001267550.2(TTN):c.33172G>A (p.Val11058Met)
NM_001267550.2(TTN):c.33215T>G (p.Ile11072Ser) rs1553836426
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser) rs727504210
NM_001267550.2(TTN):c.33325G>A (p.Glu11109Lys) rs1420096611
NM_001267550.2(TTN):c.33339A>G (p.Lys11113=) rs926306750
NM_001267550.2(TTN):c.33340+1dup rs794729310
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu) rs1328375389
NM_001267550.2(TTN):c.33344C>A (p.Pro11115His) rs1060500394
NM_001267550.2(TTN):c.33377A>C (p.Lys11126Thr) rs760742068
NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala) rs772242510
NM_001267550.2(TTN):c.33418+2T>A rs779749654
NM_001267550.2(TTN):c.33473T>C (p.Val11158Ala) rs1441498569
NM_001267550.2(TTN):c.33501AGA[7] (p.Glu11172_Tyr11173insGluGlu)
NM_001267550.2(TTN):c.33569T>C (p.Ile11190Thr)
NM_001267550.2(TTN):c.33604_33607del (p.Val11202fs)
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu) rs757268986
NM_001267550.2(TTN):c.33694A>G (p.Lys11232Glu)
NM_001267550.2(TTN):c.33742+3A>G
NM_001267550.2(TTN):c.33742+5A>C rs2068798031
NM_001267550.2(TTN):c.33742G>A (p.Val11248Ile) rs996345107
NM_001267550.2(TTN):c.33754C>T (p.Pro11252Ser) rs886055283
NM_001267550.2(TTN):c.33775G>A (p.Glu11259Lys) rs1060500563
NM_001267550.2(TTN):c.337A>G (p.Met113Val) rs1060500430
NM_001267550.2(TTN):c.33826+7G>A rs752099208
NM_001267550.2(TTN):c.33826G>A (p.Val11276Met)
NM_001267550.2(TTN):c.33910+3A>G
NM_001267550.2(TTN):c.33994G>A (p.Val11332Met)
NM_001267550.2(TTN):c.34015G>A (p.Val11339Ile) rs886055282
NM_001267550.2(TTN):c.34075C>G (p.Pro11359Ala) rs1060500464
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[1] (p.11363VLPEEEE[3]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[4] (p.11363VLPEEEE[6]) rs397517548
NM_001267550.2(TTN):c.34108G>A (p.Val11370Ile) rs1060500545
NM_001267550.2(TTN):c.34119G>A (p.Glu11373=) rs548399416
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln) rs878921943
NM_001267550.2(TTN):c.34225G>A (p.Glu11409Lys) rs770657053
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34247_34248delinsTC (p.Glu11416Val) rs1060500408
NM_001267550.2(TTN):c.34248A>C (p.Glu11416Asp) rs780920687
NM_001267550.2(TTN):c.34251_34257del (p.Leu11418fs) rs2154268621
NM_001267550.2(TTN):c.34251_34276delinsG (p.Leu11418fs) rs2154268608
NM_001267550.2(TTN):c.34378+1del rs1462972904
NM_001267550.2(TTN):c.34379-3A>T rs1060500497
NM_001267550.2(TTN):c.34400T>C (p.Val11467Ala) rs981211046
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del) rs754236839
NM_001267550.2(TTN):c.34486A>G (p.Lys11496Glu) rs1034048129
NM_001267550.2(TTN):c.34486A>T (p.Lys11496Ter)
NM_001267550.2(TTN):c.34499dup (p.Pro11501fs) rs1560284392
NM_001267550.2(TTN):c.34592A>G (p.Glu11531Gly) rs1553815943
NM_001267550.2(TTN):c.34618G>A (p.Glu11540Lys)
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34684G>A (p.Val11562Ile) rs1060500397
NM_001267550.2(TTN):c.34696G>T (p.Ala11566Ser) rs556948427
NM_001267550.2(TTN):c.34742C>T (p.Ala11581Val) rs1060500436
NM_001267550.2(TTN):c.34768G>C (p.Glu11590Gln) rs764974634
NM_001267550.2(TTN):c.3476G>A (p.Arg1159His) rs149883066
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.34786+1G>T rs879010418
NM_001267550.2(TTN):c.34786+3del
NM_001267550.2(TTN):c.34786G>A (p.Val11596Met) rs794729415
NM_001267550.2(TTN):c.34801C>T (p.Pro11601Ser) rs1013759400
NM_001267550.2(TTN):c.34816C>T (p.Pro11606Ser) rs1553810609
NM_001267550.2(TTN):c.34823C>T (p.Pro11608Leu) rs1553810583
NM_001267550.2(TTN):c.34855G>A (p.Val11619Met) rs1560262245
NM_001267550.2(TTN):c.34931-10G>A rs1553809647
NM_001267550.2(TTN):c.34979T>C (p.Val11660Ala) rs1553809428
NM_001267550.2(TTN):c.35104T>G (p.Phe11702Val) rs1553809123
NM_001267550.2(TTN):c.35155G>T (p.Val11719Phe) rs754098075
NM_001267550.2(TTN):c.35156T>C (p.Val11719Ala) rs754536506
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)
NM_001267550.2(TTN):c.35227+3A>G rs1577214679
NM_001267550.2(TTN):c.3523+5G>C
NM_001267550.2(TTN):c.35291A>G (p.Lys11764Arg) rs1060500446
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)
NM_001267550.2(TTN):c.35386+3A>C
NM_001267550.2(TTN):c.35471-9T>C rs746940707
NM_001267550.2(TTN):c.35584G>C (p.Val11862Leu) rs1553800435
NM_001267550.2(TTN):c.35621T>C (p.Leu11874Pro)
NM_001267550.2(TTN):c.35662G>A (p.Asp11888Asn) rs1356416507
NM_001267550.2(TTN):c.35676_35679dup (p.Ile11894fs) rs2066170360
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs) rs2066169270
NM_001267550.2(TTN):c.35693G>A (p.Arg11898Lys) rs1553799769
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.35797+3A>G
NM_001267550.2(TTN):c.35797G>A (p.Glu11933Lys) rs769110483
NM_001267550.2(TTN):c.35893G>T (p.Glu11965Ter)
NM_001267550.2(TTN):c.35897T>G (p.Ile11966Ser) rs1553796799
NM_001267550.2(TTN):c.35939T>C (p.Ile11980Thr) rs927982415
NM_001267550.2(TTN):c.35972T>C (p.Met11991Thr) rs1553796242
NM_001267550.2(TTN):c.36035G>A (p.Arg12012His) rs576436744
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs) rs2154260181
NM_001267550.2(TTN):c.36118+3A>G
NM_001267550.2(TTN):c.36202+3A>G
NM_001267550.2(TTN):c.36227T>C (p.Val12076Ala) rs772990799
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36280+3A>G rs2154259799
NM_001267550.2(TTN):c.36280G>A (p.Val12094Met)
NM_001267550.2(TTN):c.36280G>C (p.Val12094Leu)
NM_001267550.2(TTN):c.36280G>T (p.Val12094Leu)
NM_001267550.2(TTN):c.36281-7T>G
NM_001267550.2(TTN):c.36281dup (p.His12095fs) rs2154259448
NM_001267550.2(TTN):c.36342G>C (p.Lys12114Asn) rs766280406
NM_001267550.2(TTN):c.3635C>T (p.Ser1212Phe) rs2154348242
NM_001267550.2(TTN):c.36364+4dup rs949125365
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln) rs1043395012
NM_001267550.2(TTN):c.36448+4_36532+3del rs2154258800
NM_001267550.2(TTN):c.36532+3A>G
NM_001267550.2(TTN):c.36533-1G>A
NM_001267550.2(TTN):c.36685A>G (p.Ser12229Gly) rs1060500531
NM_001267550.2(TTN):c.36696del (p.Glu12233fs) rs1060500458
NM_001267550.2(TTN):c.36701-6T>G rs1060500422
NM_001267550.2(TTN):c.36701-9T>G rs1060500427
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.36790+5G>T rs752204534
NM_001267550.2(TTN):c.36821_36822insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCNNAAAAAAAAAAAAAAAAAAAA (p.Glu12274_Lys12275insAlaGlyArgGlyGlySerArgLeuTer)
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val) rs576019235
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala) rs146313925
NM_001267550.2(TTN):c.3701T>C (p.Val1234Ala) rs1060500401
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=) rs200163049
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs) rs2064831878
NM_001267550.2(TTN):c.37222G>A (p.Val12408Ile) rs1553786445
NM_001267550.2(TTN):c.3729+3G>A
NM_001267550.2(TTN):c.3736C>A (p.His1246Asn) rs1554012975
NM_001267550.2(TTN):c.37370-1G>A
NM_001267550.2(TTN):c.37373C>T (p.Pro12458Leu) rs1553782191
NM_001267550.2(TTN):c.37397C>T (p.Pro12466Leu) rs727503632
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala) rs1060500552
NM_001267550.2(TTN):c.37477G>A (p.Glu12493Lys) rs1426948805
NM_001267550.2(TTN):c.37489G>A (p.Glu12497Lys) rs1553781387
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu) rs1236045684
NM_001267550.2(TTN):c.37576A>T (p.Lys12526Ter) rs1560149950
NM_001267550.2(TTN):c.37616_37627+12del rs1560149416
NM_001267550.2(TTN):c.37651G>A (p.Val12551Ile) rs1437747405
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr) rs1060500468
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met) rs1577039412
NM_001267550.2(TTN):c.37903G>C (p.Glu12635Gln) rs749935074
NM_001267550.2(TTN):c.37949T>C (p.Val12650Ala) rs1553779318
NM_001267550.2(TTN):c.37996C>A (p.Pro12666Thr) rs201684070
NM_001267550.2(TTN):c.38000C>A (p.Ser12667Ter) rs572641259
NM_001267550.2(TTN):c.38101C>T (p.Pro12701Ser) rs1284117197
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) rs202075225
NM_001267550.2(TTN):c.38147T>A (p.Val12716Asp) rs1553777417
NM_001267550.2(TTN):c.38206+6_39295+5del
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys) rs1553777033
NM_001267550.2(TTN):c.38249A>C (p.Lys12750Thr) rs1337231554
NM_001267550.2(TTN):c.38299C>T (p.Pro12767Ser)
NM_001267550.2(TTN):c.38326G>T (p.Glu12776Ter) rs2063658613
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs) rs752101551
NM_001267550.2(TTN):c.38465-8C>A rs937031915
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)
NM_001267550.2(TTN):c.38519A>G (p.Lys12840Arg) rs1250144035
NM_001267550.2(TTN):c.38523del (p.Lys12841fs) rs1457702153
NM_001267550.2(TTN):c.38546-2del rs1486772794
NM_001267550.2(TTN):c.3854A>T (p.Glu1285Val) rs1554012705
NM_001267550.2(TTN):c.38626+4dup rs1260372587
NM_001267550.2(TTN):c.38660del (p.Lys12887fs) rs761617432
NM_001267550.2(TTN):c.38708-15_38723del
NM_001267550.2(TTN):c.38708-2A>C
NM_001267550.2(TTN):c.38723AAG[1] (p.Glu12909del) rs1060500390
NM_001267550.2(TTN):c.38783C>G (p.Pro12928Arg) rs752337495
NM_001267550.2(TTN):c.38791+1G>C
NM_001267550.2(TTN):c.38792-1_38792insA
NM_001267550.2(TTN):c.38875G>T (p.Val12959Leu)
NM_001267550.2(TTN):c.38876-2A>T
NM_001267550.2(TTN):c.38879_38880inv (p.Pro12960Leu)
NM_001267550.2(TTN):c.38915T>C (p.Met12972Thr) rs1060500540
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)
NM_001267550.2(TTN):c.38919del (p.Leu12974fs) rs1359574718
NM_001267550.2(TTN):c.39043+4T>C rs2063256186
NM_001267550.2(TTN):c.39056C>A (p.Pro13019Gln) rs763845436
NM_001267550.2(TTN):c.39057G>C (p.Pro13019=) rs371945519
NM_001267550.2(TTN):c.39058_39141del84 (p.Ala13030_Pro13057del)
NM_001267550.2(TTN):c.39059AAG[1] (p.Glu13021del) rs1298186498
NM_001267550.2(TTN):c.39098C>T (p.Pro13033Leu)
NM_001267550.2(TTN):c.39127+3A>T rs2154250699
NM_001267550.2(TTN):c.39201_39203dup (p.Pro13068dup) rs748388695
NM_001267550.2(TTN):c.39211G>T (p.Val13071Phe) rs1334646153
NM_001267550.2(TTN):c.3926C>T (p.Thr1309Ile)
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del) rs727503631
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr) rs370157162
NM_001267550.2(TTN):c.39355C>T (p.Pro13119Ser) rs2063054787
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del) rs1292233616
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu) rs1060500460
NM_001267550.2(TTN):c.39464-15T>C rs2062964886
NM_001267550.2(TTN):c.39502G>A (p.Val13168Met)
NM_001267550.2(TTN):c.39511G>A (p.Val13171Met) rs780550944
NM_001267550.2(TTN):c.39525G>C (p.Lys13175Asn) rs1060500515
NM_001267550.2(TTN):c.39539del (p.Pro13180fs) rs2062944024
NM_001267550.2(TTN):c.39547+3A>G rs878854370
NM_001267550.2(TTN):c.39547+4T>C rs754899622
NM_001267550.2(TTN):c.39547G>C (p.Val13183Leu) rs2154249791
NM_001267550.2(TTN):c.39563AAG[1] (p.Glu13189del) rs1553769206
NM_001267550.2(TTN):c.3963+3A>G rs2092547968
NM_001267550.2(TTN):c.3963+5A>C
NM_001267550.2(TTN):c.39709+4C>T rs1553768226
NM_001267550.2(TTN):c.3972G>C (p.Trp1324Cys)
NM_001267550.2(TTN):c.39743A>T (p.Glu13248Val) rs1224909860
NM_001267550.2(TTN):c.39817+1G>C rs959064823
NM_001267550.2(TTN):c.39818-4_39821delinsA rs2062659844
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser) rs727503630
NM_001267550.2(TTN):c.39862G>C (p.Val13288Leu) rs878854303
NM_001267550.2(TTN):c.39943G>C (p.Val13315Leu) rs1553766447
NM_001267550.2(TTN):c.39985C>G (p.Pro13329Ala)
NM_001267550.2(TTN):c.39995T>G (p.Leu13332Arg) rs1424568997
NM_001267550.2(TTN):c.40046T>G (p.Leu13349Arg)
NM_001267550.2(TTN):c.40057G>A (p.Val13353Met) rs1422486813
NM_001267550.2(TTN):c.40141+6C>A rs750448649
NM_001267550.2(TTN):c.4017G>C (p.Met1339Ile) rs1561323191
NM_001267550.2(TTN):c.40225C>T (p.Arg13409Cys) rs769146381
NM_001267550.2(TTN):c.40316T>C (p.Val13439Ala) rs1553761103
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40408G>A (p.Ala13470Thr) rs2061858723
NM_001267550.2(TTN):c.40408G>T (p.Ala13470Ser)
NM_001267550.2(TTN):c.40409-8C>A rs1351493193
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del) rs878854304
NM_001267550.2(TTN):c.40633+3A>G
NM_001267550.2(TTN):c.40633+5G>A rs2061194221
NM_001267550.2(TTN):c.40633+5G>T
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys) rs781066709
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val) rs1190002260
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)
NM_001267550.2(TTN):c.40786+1G>T
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.40876+2dup
NM_001267550.2(TTN):c.40876G>C (p.Glu13626Gln)
NM_001267550.2(TTN):c.40877-2A>G
NM_001267550.2(TTN):c.40879G>A (p.Ala13627Thr) rs1060500548
NM_001267550.2(TTN):c.40927+3G>A rs2154233434
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys) rs727504198
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.4102A>C (p.Asn1368His) rs1377114122
NM_001267550.2(TTN):c.41063A>G (p.Glu13688Gly) rs2060476554
NM_001267550.2(TTN):c.41065A>T (p.Ile13689Phe)
NM_001267550.2(TTN):c.41127G>A (p.Leu13709=)
NM_001267550.2(TTN):c.41149A>C (p.Thr13717Pro) rs1553747949
NM_001267550.2(TTN):c.41152A>T (p.Thr13718Ser) rs562561380
NM_001267550.2(TTN):c.41254G>A (p.Asp13752Asn) rs1349773180
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro) rs1060500425
NM_001267550.2(TTN):c.41321T>A (p.Val13774Asp)
NM_001267550.2(TTN):c.41329+2dup
NM_001267550.2(TTN):c.41391_41393del (p.Leu13798del)
NM_001267550.2(TTN):c.41468C>G (p.Pro13823Arg) rs2060403983
NM_001267550.2(TTN):c.41503C>T (p.Arg13835Trp) rs886055278
NM_001267550.2(TTN):c.41542G>A (p.Gly13848Arg) rs1553746427
NM_001267550.2(TTN):c.41548T>C (p.Tyr13850His) rs774281208
NM_001267550.2(TTN):c.4157C>T (p.Pro1386Leu)
NM_001267550.2(TTN):c.41582A>C (p.Glu13861Ala) rs1553746267
NM_001267550.2(TTN):c.41608+4A>C rs2154230052
NM_001267550.2(TTN):c.41608G>A (p.Glu13870Lys)
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.41768T>A (p.Ile13923Lys) rs1553745511
NM_001267550.2(TTN):c.4195G>T (p.Val1399Leu) rs1554011657
NM_001267550.2(TTN):c.42024+4A>G
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser) rs367751077
NM_001267550.2(TTN):c.42046G>C (p.Gly14016Arg) rs367751077
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe) rs1433887768
NM_001267550.2(TTN):c.42134C>T (p.Ala14045Val)
NM_001267550.2(TTN):c.42151+3A>G rs770439451
NM_001267550.2(TTN):c.42355dup (p.Glu14119fs)
NM_001267550.2(TTN):c.42382G>A (p.Gly14128Ser) rs1553743503
NM_001267550.2(TTN):c.42430T>A (p.Phe14144Ile) rs1359996660
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.42447A>G (p.Glu14149=) rs879241728
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys) rs575813993
NM_001267550.2(TTN):c.42646A>T (p.Lys14216Ter)
NM_001267550.2(TTN):c.42682G>C (p.Glu14228Gln)
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser) rs772479207
NM_001267550.2(TTN):c.42714T>G (p.His14238Gln) rs1438979717
NM_001267550.2(TTN):c.42822del (p.Lys14274fs) rs2060064534
NM_001267550.2(TTN):c.42869A>C (p.Lys14290Thr) rs1060500499
NM_001267550.2(TTN):c.42897T>A (p.Tyr14299Ter)
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) rs727505144
NM_001267550.2(TTN):c.43086+3A>G rs2060017452
NM_001267550.2(TTN):c.43086+5G>A
NM_001267550.2(TTN):c.43087-9T>C
NM_001267550.2(TTN):c.43133A>G (p.His14378Arg) rs878854307
NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg)
NM_001267550.2(TTN):c.4319G>T (p.Gly1440Val) rs150579194
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr) rs1296402152
NM_001267550.2(TTN):c.43213+3A>G
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.43351G>A (p.Asp14451Asn) rs768931150
NM_001267550.2(TTN):c.43422A>T (p.Glu14474Asp) rs998106657
NM_001267550.2(TTN):c.43480+4_43480+5del
NM_001267550.2(TTN):c.43666A>G (p.Lys14556Glu) rs1553738199
NM_001267550.2(TTN):c.43747+5G>A rs878854308
NM_001267550.2(TTN):c.43747+5G>C rs878854308
NM_001267550.2(TTN):c.43800A>C (p.Lys14600Asn) rs769967388
NM_001267550.2(TTN):c.43911C>T (p.Gly14637=)
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg) rs878896650
NM_001267550.2(TTN):c.43939G>C (p.Ala14647Pro) rs2059746777
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)
NM_001267550.2(TTN):c.440C>G (p.Ser147Cys) rs2094006092
NM_001267550.2(TTN):c.44154+4A>T rs1576670482
NM_001267550.2(TTN):c.44154+5G>A rs2154220094
NM_001267550.2(TTN):c.44184A>G (p.Ile14728Met) rs572315033
NM_001267550.2(TTN):c.44191C>T (p.Leu14731Phe) rs771361227
NM_001267550.2(TTN):c.44204A>G (p.Asn14735Ser) rs763464756
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44281+2dup rs773570018
NM_001267550.2(TTN):c.44281+5G>A rs2059634223
NM_001267550.2(TTN):c.44285G>C (p.Arg14762Pro) rs727505019
NM_001267550.2(TTN):c.44335G>C (p.Glu14779Gln) rs1262894259
NM_001267550.2(TTN):c.44373T>C (p.Asp14791=) rs772552324
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44375T>C (p.Ile14792Thr) rs747654057
NM_001267550.2(TTN):c.44413C>G (p.Pro14805Ala) rs753926213
NM_001267550.2(TTN):c.44467A>G (p.Arg14823Gly) rs886055277
NM_001267550.2(TTN):c.44472T>G (p.Asp14824Glu) rs377441854
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr) rs886055276
NM_001267550.2(TTN):c.44580G>C (p.Glu14860Asp) rs1060500475
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln) rs762830792
NM_001267550.2(TTN):c.44743A>G (p.Thr14915Ala) rs878854310
NM_001267550.2(TTN):c.4480G>T (p.Gly1494Cys)
NM_001267550.2(TTN):c.44815+14T>C rs2058737403
NM_001267550.2(TTN):c.44815+2_44815+3insTT rs786205392
NM_001267550.2(TTN):c.44850C>A (p.Asp14950Glu) rs371376631
NM_001267550.2(TTN):c.44913+10dup rs745700983
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn) rs757693661
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro) rs1553719829
NM_001267550.2(TTN):c.44999T>C (p.Ile15000Thr) rs886055275
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His) rs373109469
NM_001267550.2(TTN):c.45052G>C (p.Ala15018Pro) rs1060500472
NM_001267550.2(TTN):c.4506C>T (p.Thr1502=) rs185660585
NM_001267550.2(TTN):c.45082+4A>T
NM_001267550.2(TTN):c.45082+5G>A rs2058337645
NM_001267550.2(TTN):c.45349+3A>G rs1553718424
NM_001267550.2(TTN):c.45449T>G (p.Val15150Gly) rs1060500496
NM_001267550.2(TTN):c.45601C>G (p.His15201Asp) rs794729438
NM_001267550.2(TTN):c.45719G>A (p.Trp15240Ter) rs2058162241
NM_001267550.2(TTN):c.45725G>T (p.Arg15242Ile) rs140795503
NM_001267550.2(TTN):c.45737C>T (p.Ala15246Val) rs370233278
NM_001267550.2(TTN):c.45746A>G (p.Asp15249Gly) rs2058157979
NM_001267550.2(TTN):c.45895+5G>C rs1206842325
NM_001267550.2(TTN):c.45897G>C (p.Glu15299Asp) rs760431926
NM_001267550.2(TTN):c.45932T>C (p.Ile15311Thr)
NM_001267550.2(TTN):c.45940A>T (p.Met15314Leu) rs1391292606
NM_001267550.2(TTN):c.45942G>T (p.Met15314Ile) rs2058108323
NM_001267550.2(TTN):c.46025C>T (p.Pro15342Leu)
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=) rs886055273
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys) rs886038861
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46172C>T (p.Thr15391Ile) rs775807236
NM_001267550.2(TTN):c.46205T>C (p.Val15402Ala) rs1559868004
NM_001267550.2(TTN):c.46211A>G (p.Glu15404Gly) rs878854311
NM_001267550.2(TTN):c.4621A>G (p.Ile1541Val) rs1060500580
NM_001267550.2(TTN):c.46226T>C (p.Val15409Ala)
NM_001267550.2(TTN):c.46304+3A>T rs866285912
NM_001267550.2(TTN):c.46304+5G>A rs398124452
NM_001267550.2(TTN):c.46304+6C>T rs772406721
NM_001267550.2(TTN):c.46305-1G>C rs1553714845
NM_001267550.2(TTN):c.46305-3T>C
NM_001267550.2(TTN):c.46354T>G (p.Cys15452Gly) rs2058039119
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr) rs537428006
NM_001267550.2(TTN):c.4651G>A (p.Glu1551Lys) rs762008835
NM_001267550.2(TTN):c.46550T>C (p.Met15517Thr) rs1349699547
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu) rs1553713980
NM_001267550.2(TTN):c.46696+4A>G rs1553713646
NM_001267550.2(TTN):c.46732G>C (p.Val15578Leu) rs1553712552
NM_001267550.2(TTN):c.46773T>C (p.Tyr15591=) rs397517586
NM_001267550.2(TTN):c.46803G>A (p.Trp15601Ter) rs1576521473
NM_001267550.2(TTN):c.468C>T (p.Gly156=)
NM_001267550.2(TTN):c.46909A>C (p.Ile15637Leu)
NM_001267550.2(TTN):c.46943G>A (p.Gly15648Glu) rs1060500413
NM_001267550.2(TTN):c.46945T>G (p.Phe15649Val)
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.47102G>C (p.Arg15701Thr)
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg) rs1553711574
NM_001267550.2(TTN):c.47177T>C (p.Val15726Ala) rs1553711371
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47289G>T (p.Leu15763Phe) rs1553710788
NM_001267550.2(TTN):c.47394_47411del (p.Asp15799_Arg15804del) rs398124453
NM_001267550.2(TTN):c.47515A>G (p.Ile15839Val) rs1553710021
NM_001267550.2(TTN):c.47537C>T (p.Ala15846Val) rs1183139911
NM_001267550.2(TTN):c.47572+3A>T
NM_001267550.2(TTN):c.47626G>A (p.Val15876Ile) rs766025438
NM_001267550.2(TTN):c.4766G>A (p.Trp1589Ter)
NM_001267550.2(TTN):c.47757C>T (p.Tyr15919=) rs1060500551
NM_001267550.2(TTN):c.47761-7A>G rs1365533381
NM_001267550.2(TTN):c.47875+4_47875+7del rs753206674
NM_001267550.2(TTN):c.47875+9A>G rs1553708222
NM_001267550.2(TTN):c.47900C>A (p.Ala15967Glu) rs1553707943
NM_001267550.2(TTN):c.48024G>T (p.Arg16008=) rs780824428
NM_001267550.2(TTN):c.48052G>A (p.Ala16018Thr) rs1451009964
NM_001267550.2(TTN):c.48073A>T (p.Ser16025Cys) rs1185643168
NM_001267550.2(TTN):c.48106A>C (p.Lys16036Gln) rs886055271
NM_001267550.2(TTN):c.4814+3A>C rs567197047
NM_001267550.2(TTN):c.4814+5G>A
NM_001267550.2(TTN):c.4814+6T>C
NM_001267550.2(TTN):c.48160G>A (p.Ala16054Thr) rs1576492463
NM_001267550.2(TTN):c.48161-1G>A
NM_001267550.2(TTN):c.48311A>C (p.Lys16104Thr) rs1060500396
NM_001267550.2(TTN):c.48312+2dup rs776497397
NM_001267550.2(TTN):c.48312+5G>A
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.48399C>A (p.Asn16133Lys) rs1060500470
NM_001267550.2(TTN):c.48426T>A (p.Tyr16142Ter) rs1576476485
NM_001267550.2(TTN):c.48451A>C (p.Thr16151Pro) rs186497293
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser) rs876658063
NM_001267550.2(TTN):c.48557G>A (p.Arg16186His) rs769784536
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48590G>A (p.Arg16197His) rs369826752
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48638+5del rs2057135287
NM_001267550.2(TTN):c.48639-3C>A rs923663993
NM_001267550.2(TTN):c.48668A>C (p.Lys16223Thr) rs1553704101
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) rs886055270
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr) rs72677242
NM_001267550.2(TTN):c.48760+8T>C rs2057012531
NM_001267550.2(TTN):c.48760G>A (p.Glu16254Lys)
NM_001267550.2(TTN):c.48760G>C (p.Glu16254Gln)
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.48862C>T (p.Pro16288Ser) rs894986526
NM_001267550.2(TTN):c.48971G>T (p.Ser16324Ile) rs878948684
NM_001267550.2(TTN):c.49048+4A>G rs766931932
NM_001267550.2(TTN):c.49174G>A (p.Ala16392Thr) rs794729446
NM_001267550.2(TTN):c.49175C>A (p.Ala16392Glu) rs750310775
NM_001267550.2(TTN):c.49183A>G (p.Ser16395Gly) rs2056873203
NM_001267550.2(TTN):c.49211C>T (p.Thr16404Ile) rs2056867382
NM_001267550.2(TTN):c.49241A>G (p.Lys16414Arg) rs1329659749
NM_001267550.2(TTN):c.49265T>C (p.Ile16422Thr) rs746167353
NM_001267550.2(TTN):c.49345+3A>G rs2056845605
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn) rs541307234
NM_001267550.2(TTN):c.49436G>A (p.Gly16479Asp) rs2056796893
NM_001267550.2(TTN):c.49609A>C (p.Ser16537Arg)
NM_001267550.2(TTN):c.49621G>T (p.Glu16541Ter) rs2056671421
NM_001267550.2(TTN):c.49648+5T>C rs759948503
NM_001267550.2(TTN):c.4991G>A (p.Arg1664Gln)
NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys) rs794727352
NM_001267550.2(TTN):c.49964C>A (p.Pro16655Gln)
NM_001267550.2(TTN):c.5001T>C (p.Tyr1667=) rs540957547
NM_001267550.2(TTN):c.5001T>G (p.Tyr1667Ter)
NM_001267550.2(TTN):c.5003G>A (p.Arg1668Lys) rs1554008153
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val) rs763483590
NM_001267550.2(TTN):c.50203G>A (p.Asp16735Asn)
NM_001267550.2(TTN):c.50355-3T>C rs1172932037
NM_001267550.2(TTN):c.5039T>A (p.Leu1680His) rs886055304
NM_001267550.2(TTN):c.50441C>G (p.Thr16814Ser) rs1559783698
NM_001267550.2(TTN):c.5045T>G (p.Leu1682Trp) rs2092276401
NM_001267550.2(TTN):c.50749G>A (p.Gly16917Ser) rs1553696081
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.51136+3A>G
NM_001267550.2(TTN):c.51136+4A>C
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51338C>A (p.Pro17113Gln) rs763635220
NM_001267550.2(TTN):c.51366A>T (p.Lys17122Asn) rs1553693116
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.51436+1del
NM_001267550.2(TTN):c.51436+4A>C
NM_001267550.2(TTN):c.51436+5G>C rs2055951790
NM_001267550.2(TTN):c.51454G>A (p.Val17152Ile) rs1553692607
NM_001267550.2(TTN):c.51633A>T (p.Gly17211=) rs879091553
NM_001267550.2(TTN):c.51634C>T (p.Leu17212Phe) rs1473716049
NM_001267550.2(TTN):c.51672A>C (p.Ala17224=) rs755746120
NM_001267550.2(TTN):c.51739+3A>G
NM_001267550.2(TTN):c.5176C>A (p.Leu1726Ile) rs2092262370
NM_001267550.2(TTN):c.51818G>A (p.Gly17273Glu)
NM_001267550.2(TTN):c.51859G>A (p.Val17287Ile) rs1333508634
NM_001267550.2(TTN):c.51885G>T (p.Lys17295Asn) rs72632861
NM_001267550.2(TTN):c.51928GAA[2] (p.Glu17312del) rs780745206
NM_001267550.2(TTN):c.51938C>A (p.Pro17313Gln) rs372927085
NM_001267550.2(TTN):c.51947T>G (p.Leu17316Arg) rs368529230
NM_001267550.2(TTN):c.51986A>T (p.Lys17329Met) rs1060500490
NM_001267550.2(TTN):c.52062C>A (p.Asp17354Glu) rs886055269
NM_001267550.2(TTN):c.52085G>A (p.Cys17362Tyr) rs1553690569
NM_001267550.2(TTN):c.52102+5G>C rs886042399
NM_001267550.2(TTN):c.52112G>A (p.Gly17371Glu) rs794729455
NM_001267550.2(TTN):c.52385T>A (p.Leu17462His) rs1216814159
NM_001267550.2(TTN):c.52405+4A>G
NM_001267550.2(TTN):c.52428G>A (p.Lys17476=) rs886055268
NM_001267550.2(TTN):c.52515G>A (p.Trp17505Ter) rs1160660090
NM_001267550.2(TTN):c.52524A>T (p.Lys17508Asn) rs1060500466
NM_001267550.2(TTN):c.52530_52535del (p.Glu17510_Asn17512delinsAsp) rs1553688489
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.5260A>G (p.Ile1754Val) rs780379544
NM_001267550.2(TTN):c.52619A>G (p.Tyr17540Cys)
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.52709C>T (p.Pro17570Leu) rs2055350149
NM_001267550.2(TTN):c.52859C>G (p.Thr17620Arg) rs1559743128
NM_001267550.2(TTN):c.53003-36_53045del
NM_001267550.2(TTN):c.53060G>A (p.Gly17687Glu) rs780672348
NM_001267550.2(TTN):c.5309G>A (p.Arg1770Lys) rs1554007509
NM_001267550.2(TTN):c.53100T>C (p.Pro17700=) rs373140387
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53236G>A (p.Ala17746Thr) rs886055266
NM_001267550.2(TTN):c.53287+4A>C rs2055151641
NM_001267550.2(TTN):c.53287G>C (p.Asp17763His) rs2055154464
NM_001267550.2(TTN):c.53322T>G (p.Val17774=) rs886055265
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro) rs777712545
NM_001267550.2(TTN):c.53357C>A (p.Ser17786Tyr) rs1060500485
NM_001267550.2(TTN):c.53526del (p.Lys17842fs) rs2154196732
NM_001267550.2(TTN):c.53581G>A (p.Gly17861Ser) rs1576357395
NM_001267550.2(TTN):c.53609C>T (p.Thr17870Ile) rs1553683359
NM_001267550.2(TTN):c.53641C>G (p.Leu17881Val) rs771801125
NM_001267550.2(TTN):c.53641C>T (p.Leu17881Phe) rs771801125
NM_001267550.2(TTN):c.53659C>T (p.Arg17887Cys) rs771307468
NM_001267550.2(TTN):c.53663G>C (p.Ser17888Thr) rs778009539
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)
NM_001267550.2(TTN):c.53758A>G (p.Thr17920Ala)
NM_001267550.2(TTN):c.53881+1G>A
NM_001267550.2(TTN):c.53881+4C>A rs187632918
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.53881+6G>A rs1553682704
NM_001267550.2(TTN):c.538A>C (p.Asn180His) rs864622712
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro) rs200100660
NM_001267550.2(TTN):c.53965G>A (p.Asp17989Asn) rs1060500481
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.54148C>G (p.Arg18050Gly) rs55734111
NM_001267550.2(TTN):c.54263C>T (p.Ala18088Val) rs2054396232
NM_001267550.2(TTN):c.54290T>C (p.Ile18097Thr) rs1553681465
NM_001267550.2(TTN):c.54320C>G (p.Ala18107Gly) rs794729457
NM_001267550.2(TTN):c.54449G>A (p.Ser18150Asn) rs886055264
NM_001267550.2(TTN):c.54469A>G (p.Lys18157Glu) rs886055263
NM_001267550.2(TTN):c.54496C>T (p.Leu18166Phe) rs878953621
NM_001267550.2(TTN):c.54600C>G (p.Gly18200=)
NM_001267550.2(TTN):c.54613A>G (p.Lys18205Glu)
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) rs397517620
NM_001267550.2(TTN):c.54644G>A (p.Arg18215His)
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val) rs886038866
NM_001267550.2(TTN):c.5468C>T (p.Ala1823Val) rs1554007106
NM_001267550.2(TTN):c.54727C>G (p.Gln18243Glu) rs372447571
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr) rs141213991
NM_001267550.2(TTN):c.54811+8T>C rs747409403
NM_001267550.2(TTN):c.5483T>G (p.Leu1828Arg) rs2092226818
NM_001267550.2(TTN):c.54935AAG[2] (p.Glu18314del) rs1553675991
NM_001267550.2(TTN):c.54976G>C (p.Asp18326His) rs1553675887
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55154A>G (p.Gln18385Arg) rs2053613633
NM_001267550.2(TTN):c.55264A>G (p.Met18422Val) rs2053594072
NM_001267550.2(TTN):c.55269+3A>G
NM_001267550.2(TTN):c.55271A>G (p.Asp18424Gly) rs1553674352
NM_001267550.2(TTN):c.55303-1G>A rs748369265
NM_001267550.2(TTN):c.55345T>C (p.Cys18449Arg) rs2053507157
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.5539C>T (p.Pro1847Ser) rs138778559
NM_001267550.2(TTN):c.55432+10A>G rs751062759
NM_001267550.2(TTN):c.55432+5G>A
NM_001267550.2(TTN):c.55433-4A>G rs1451088765
NM_001267550.2(TTN):c.55485T>G (p.Ser18495Arg) rs1213190093
NM_001267550.2(TTN):c.55522G>A (p.Gly18508Arg) rs1060500511
NM_001267550.2(TTN):c.55610C>T (p.Thr18537Ile) rs1027035888
NM_001267550.2(TTN):c.55615G>A (p.Val18539Ile) rs1060500557
NM_001267550.2(TTN):c.55682T>C (p.Ile18561Thr)
NM_001267550.2(TTN):c.55732+3A>G rs2154192792
NM_001267550.2(TTN):c.55732+4A>G rs2053372615
NM_001267550.2(TTN):c.55732+5G>C rs878854377
NM_001267550.2(TTN):c.55738C>T (p.Pro18580Ser) rs528329600
NM_001267550.2(TTN):c.5576G>A (p.Arg1859Lys) rs777923620
NM_001267550.2(TTN):c.55851G>C (p.Glu18617Asp) rs878854316
NM_001267550.2(TTN):c.55909C>A (p.Arg18637Ser) rs374151130
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys) rs374151130
NM_001267550.2(TTN):c.56067T>A (p.Asp18689Glu) rs1553667022
NM_001267550.2(TTN):c.56191C>A (p.Pro18731Thr) rs751457168
NM_001267550.2(TTN):c.56191C>T (p.Pro18731Ser) rs751457168
NM_001267550.2(TTN):c.56207C>A (p.Thr18736Asn) rs1455791430
NM_001267550.2(TTN):c.56286T>C (p.Tyr18762=) rs886055262
NM_001267550.2(TTN):c.5630A>T (p.Asn1877Ile) rs1554006798
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.56396C>T (p.Ala18799Val) rs753746652
NM_001267550.2(TTN):c.56453C>A (p.Thr18818Lys) rs945270235
NM_001267550.2(TTN):c.56549T>A (p.Leu18850Gln) rs878854317
NM_001267550.2(TTN):c.56595T>C (p.Tyr18865=) rs886055261
NM_001267550.2(TTN):c.56647+6T>C
NM_001267550.2(TTN):c.56685C>T (p.Ser18895=) rs375403059
NM_001267550.2(TTN):c.5672A>G (p.Tyr1891Cys) rs547305291
NM_001267550.2(TTN):c.56855G>T (p.Gly18952Val) rs762735652
NM_001267550.2(TTN):c.56941G>A (p.Ala18981Thr) rs760651904
NM_001267550.2(TTN):c.56962G>A (p.Ala18988Thr)
NM_001267550.2(TTN):c.56986A>C (p.Lys18996Gln)
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del) rs749887998
NM_001267550.2(TTN):c.57103T>G (p.Trp19035Gly)
NM_001267550.2(TTN):c.57111+3A>G rs374844230
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His) rs1477069650
NM_001267550.2(TTN):c.57262G>A (p.Val19088Ile) rs727505347
NM_001267550.2(TTN):c.57263-6T>G rs562237741
NM_001267550.2(TTN):c.57305T>C (p.Ile19102Thr) rs878854319
NM_001267550.2(TTN):c.57323G>A (p.Gly19108Glu) rs774910035
NM_001267550.2(TTN):c.57325G>A (p.Val19109Met) rs945083650
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys) rs375305621
NM_001267550.2(TTN):c.57491T>C (p.Leu19164Pro) rs1553659364
NM_001267550.2(TTN):c.57617T>A (p.Phe19206Tyr) rs1060500418
NM_001267550.2(TTN):c.57719_57720delinsAG (p.Arg19240Gln)
NM_001267550.2(TTN):c.57742C>A (p.Leu19248Ile) rs1553655240
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe) rs1370515925
NM_001267550.2(TTN):c.57833T>C (p.Ile19278Thr) rs1060500546
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del) rs2050997801
NM_001267550.2(TTN):c.58009G>A (p.Asp19337Asn) rs1239348052
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58049AAG[1] (p.Glu19351del) rs397517634
NM_001267550.2(TTN):c.58084G>T (p.Val19362Phe) rs878854321
NM_001267550.2(TTN):c.58141G>A (p.Asp19381Asn) rs1325584288
NM_001267550.2(TTN):c.58150+4T>C
NM_001267550.2(TTN):c.58150+5G>A rs2050944617
NM_001267550.2(TTN):c.58299T>A (p.Thr19433=) rs778334134
NM_001267550.2(TTN):c.58303A>G (p.Ile19435Val) rs749402480
NM_001267550.2(TTN):c.58374T>G (p.Cys19458Trp) rs777855018
NM_001267550.2(TTN):c.58381G>A (p.Val19461Met) rs368431326
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr) rs920055688
NM_001267550.2(TTN):c.58433-15T>G rs2050786898
NM_001267550.2(TTN):c.58445C>T (p.Pro19482Leu) rs746380279
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) rs572691153
NM_001267550.2(TTN):c.58639G>A (p.Gly19547Arg) rs886055260
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys) rs779755661
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.58958G>A (p.Arg19653Gln) rs1398360418
NM_001267550.2(TTN):c.58984A>G (p.Ile19662Val) rs886055259
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=) rs886042123
NM_001267550.2(TTN):c.59035+3A>G
NM_001267550.2(TTN):c.59035+6G>A rs753714590
NM_001267550.2(TTN):c.59035+6_59035+8del rs1553648631
NM_001267550.2(TTN):c.59036C>T (p.Ala19679Val) rs1238012891
NM_001267550.2(TTN):c.59147T>C (p.Ile19716Thr) rs763636451
NM_001267550.2(TTN):c.59200C>T (p.Pro19734Ser) rs563889482
NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg) rs2154185954
NM_001267550.2(TTN):c.59340G>C (p.Arg19780Ser) rs1327554085
NM_001267550.2(TTN):c.59344G>C (p.Glu19782Gln)
NM_001267550.2(TTN):c.59381G>C (p.Arg19794Thr) rs1553647309
NM_001267550.2(TTN):c.59451A>C (p.Lys19817Asn) rs1553647180
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val) rs886055303
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59626G>A (p.Asp19876Asn) rs1244294413
NM_001267550.2(TTN):c.59647G>T (p.Asp19883Tyr) rs1060500395
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn) rs374163882
NM_001267550.2(TTN):c.5981C>A (p.Ser1994Ter) rs758483877
NM_001267550.2(TTN):c.59888T>C (p.Val19963Ala) rs1553645836
NM_001267550.2(TTN):c.59916G>C (p.Leu19972Phe) rs1553645773
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.59965G>C (p.Val19989Leu) rs1021499065
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del) rs886055257
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del) rs761360903
NM_001267550.2(TTN):c.60192T>C (p.Thr20064=) rs1215674180
NM_001267550.2(TTN):c.60220+1G>A
NM_001267550.2(TTN):c.60305T>G (p.Ile20102Arg) rs998020901
NM_001267550.2(TTN):c.60323C>G (p.Pro20108Arg)
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu) rs376618165
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser) rs375009570
NM_001267550.2(TTN):c.60490G>A (p.Val20164Ile) rs72646843
NM_001267550.2(TTN):c.60755T>C (p.Ile20252Thr) rs752999797
NM_001267550.2(TTN):c.60811C>A (p.Pro20271Thr) rs886055256
NM_001267550.2(TTN):c.60844G>C (p.Asp20282His) rs2050065045
NM_001267550.2(TTN):c.60871T>G (p.Ser20291Ala) rs1553643238
NM_001267550.2(TTN):c.60920A>T (p.Tyr20307Phe) rs1553643111
NM_001267550.2(TTN):c.60952G>C (p.Val20318Leu)
NM_001267550.2(TTN):c.60968C>T (p.Thr20323Ile) rs1060500415
NM_001267550.2(TTN):c.60988T>C (p.Phe20330Leu) rs2050031384
NM_001267550.2(TTN):c.60991A>G (p.Arg20331Gly) rs1226541281
NM_001267550.2(TTN):c.61054G>A (p.Gly20352Arg)
NM_001267550.2(TTN):c.61244_61245inv (p.Thr20415Met)
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.61496G>A (p.Arg20499Gln)
NM_001267550.2(TTN):c.6151A>G (p.Lys2051Glu) rs1393006247
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg) rs1472565206
NM_001267550.2(TTN):c.61709C>G (p.Pro20570Arg) rs1559576730
NM_001267550.2(TTN):c.62005C>T (p.Pro20669Ser) rs1553641246
NM_001267550.2(TTN):c.62008G>C (p.Gly20670Arg) rs774150150
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu) rs2049804283
NM_001267550.2(TTN):c.62137G>T (p.Asp20713Tyr) rs1177521349
NM_001267550.2(TTN):c.62165G>A (p.Ser20722Asn) rs568728579
NM_001267550.2(TTN):c.62222T>G (p.Phe20741Cys) rs1553640801
NM_001267550.2(TTN):c.62262G>C (p.Trp20754Cys) rs1060500414
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.62289AGA[1] (p.Glu20764del) rs751783806
NM_001267550.2(TTN):c.62299C>G (p.Gln20767Glu) rs1553640642
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn) rs1218971734
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.62618T>C (p.Ile20873Thr) rs1060500438
NM_001267550.2(TTN):c.62678_62679delinsTT (p.Gly20893Val) rs1060500476
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr) rs370080086
NM_001267550.2(TTN):c.62834G>A (p.Gly20945Asp) rs2049635543
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.62939T>C (p.Met20980Thr) rs757789191
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.63032T>A (p.Val21011Asp) rs1553639384
NM_001267550.2(TTN):c.63047G>C (p.Ser21016Thr) rs1169239147
NM_001267550.2(TTN):c.63064C>T (p.Arg21022Cys) rs779112015
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile) rs1060500596
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln) rs1559561109
NM_001267550.2(TTN):c.63187+5G>A rs1292388582
NM_001267550.2(TTN):c.63250G>A (p.Gly21084Arg) rs1559557623
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe) rs377480514
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup) rs750904641
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.63298G>A (p.Val21100Ile) rs774240012
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.63343G>A (p.Gly21115Ser) rs1559556478
NM_001267550.2(TTN):c.63446A>C (p.Asn21149Thr) rs1060500527
NM_001267550.2(TTN):c.63450A>G (p.Gln21150=) rs2049398530
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63674T>C (p.Val21225Ala) rs1396646735
NM_001267550.2(TTN):c.63793+4G>C rs777513250
NM_001267550.2(TTN):c.63793+5G>A rs2049296291
NM_001267550.2(TTN):c.63793G>T (p.Asp21265Tyr) rs794729474
NM_001267550.2(TTN):c.63822A>G (p.Lys21274=)
NM_001267550.2(TTN):c.63863C>A (p.Ala21288Asp)
NM_001267550.2(TTN):c.64066A>G (p.Lys21356Glu) rs2049196006
NM_001267550.2(TTN):c.64093+4A>C
NM_001267550.2(TTN):c.64093+4_64093+7del rs1437065772
NM_001267550.2(TTN):c.64119A>C (p.Leu21373Phe) rs753245626
NM_001267550.2(TTN):c.64123G>C (p.Val21375Leu) rs371670651
NM_001267550.2(TTN):c.64187C>G (p.Ala21396Gly)
NM_001267550.2(TTN):c.64396+4A>G rs2049020856
NM_001267550.2(TTN):c.64541C>T (p.Ala21514Val) rs1060500520
NM_001267550.2(TTN):c.64672G>A (p.Asp21558Asn)
NM_001267550.2(TTN):c.64672G>T (p.Asp21558Tyr)
NM_001267550.2(TTN):c.64685C>A (p.Pro21562His) rs1213776805
NM_001267550.2(TTN):c.64688C>G (p.Pro21563Arg)
NM_001267550.2(TTN):c.64732T>G (p.Ser21578Ala) rs1553633161
NM_001267550.2(TTN):c.64753C>A (p.Leu21585Met) rs772957708
NM_001267550.2(TTN):c.64781A>C (p.Asn21594Thr) rs1060500570
NM_001267550.2(TTN):c.64860G>C (p.Arg21620Ser) rs373713828
NM_001267550.2(TTN):c.64880G>T (p.Gly21627Val) rs2154180072
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)
NM_001267550.2(TTN):c.64937T>C (p.Leu21646Pro) rs1060500539
NM_001267550.2(TTN):c.64965C>G (p.Phe21655Leu) rs886055255
NM_001267550.2(TTN):c.65024G>A (p.Cys21675Tyr) rs1060500571
NM_001267550.2(TTN):c.65048C>A (p.Pro21683Gln) rs1328998714
NM_001267550.2(TTN):c.65062G>A (p.Gly21688Arg) rs372661193
NM_001267550.2(TTN):c.65072T>C (p.Ile21691Thr) rs1060500388
NM_001267550.2(TTN):c.6509-1G>A
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His) rs371581072
NM_001267550.2(TTN):c.65106_65107del (p.Asn21702fs)
NM_001267550.2(TTN):c.65114T>A (p.Leu21705Gln) rs2154179812
NM_001267550.2(TTN):c.65159C>T (p.Pro21720Leu) rs878854325
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser) rs1320436212
NM_001267550.2(TTN):c.6520A>G (p.Ile2174Val) rs1171508892
NM_001267550.2(TTN):c.65294A>C (p.Glu21765Ala)
NM_001267550.2(TTN):c.65546C>T (p.Ser21849Phe) rs1060500465
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.65812_65863+6del rs2048116266
NM_001267550.2(TTN):c.65863G>A (p.Asp21955Asn) rs1428859947
NM_001267550.2(TTN):c.66160G>T (p.Asp22054Tyr) rs1057523177
NM_001267550.2(TTN):c.66256C>T (p.Pro22086Ser) rs1060500491
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys) rs771219209
NM_001267550.2(TTN):c.66376T>C (p.Tyr22126His) rs1447894010
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp) rs1559507734
NM_001267550.2(TTN):c.66430G>T (p.Ala22144Ser) rs183276016
NM_001267550.2(TTN):c.66463+2dup rs1276825352
NM_001267550.2(TTN):c.66463+4dup
NM_001267550.2(TTN):c.66463+5G>A
NM_001267550.2(TTN):c.66463+5G>C
NM_001267550.2(TTN):c.66565A>G (p.Ile22189Val) rs886055254
NM_001267550.2(TTN):c.66578T>C (p.Val22193Ala) rs775454536
NM_001267550.2(TTN):c.66580G>A (p.Glu22194Lys) rs768049902
NM_001267550.2(TTN):c.6675C>G (p.Asp2225Glu) rs1002616301
NM_001267550.2(TTN):c.66769+4_66769+7del rs727504189
NM_001267550.2(TTN):c.66769+5G>A
NM_001267550.2(TTN):c.66772C>T (p.Pro22258Ser) rs781220405
NM_001267550.2(TTN):c.6688T>C (p.Phe2230Leu) rs1060500424
NM_001267550.2(TTN):c.669+3A>G
NM_001267550.2(TTN):c.66926A>T (p.Asp22309Val) rs1481781346
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr) rs886055253
NM_001267550.2(TTN):c.669G>A (p.Lys223=)
NM_001267550.2(TTN):c.669G>C (p.Lys223Asn)
NM_001267550.2(TTN):c.67056T>C (p.Leu22352=) rs747715690
NM_001267550.2(TTN):c.67057+3A>C
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg) rs201284459
NM_001267550.2(TTN):c.67195A>G (p.Lys22399Glu) rs1060500421
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr) rs1559493839
NM_001267550.2(TTN):c.67541_67542delinsTG (p.Thr22514Met) rs1553622336
NM_001267550.2(TTN):c.67616T>C (p.Val22539Ala) rs1553622176
NM_001267550.2(TTN):c.67636+1G>A
NM_001267550.2(TTN):c.67636+2_67636+3insC rs2047225762
NM_001267550.2(TTN):c.67636G>A (p.Val22546Met) rs794729244
NM_001267550.2(TTN):c.6768G>A (p.Thr2256=) rs886055302
NM_001267550.2(TTN):c.67804T>C (p.Ser22602Pro) rs780276317
NM_001267550.2(TTN):c.67817C>T (p.Thr22606Ile) rs1254285646
NM_001267550.2(TTN):c.67856G>A (p.Gly22619Glu) rs886055252
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67919T>C (p.Val22640Ala) rs1060500506
NM_001267550.2(TTN):c.68066A>G (p.Asn22689Ser) rs375397094
NM_001267550.2(TTN):c.6816A>T (p.Glu2272Asp) rs1554002953
NM_001267550.2(TTN):c.68176G>A (p.Val22726Ile) rs1553620392
NM_001267550.2(TTN):c.68218C>T (p.Pro22740Ser) rs886039082
NM_001267550.2(TTN):c.68224+3_68224+6del
NM_001267550.2(TTN):c.68224+5G>A
NM_001267550.2(TTN):c.68225-1G>C rs1575854773
NM_001267550.2(TTN):c.68230C>A (p.Pro22744Thr)
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68329+2_68329+3insTT rs536078303
NM_001267550.2(TTN):c.68329G>C (p.Gly22777Arg) rs2154174748
NM_001267550.2(TTN):c.68432G>T (p.Gly22811Val) rs78806155
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu) rs876658077
NM_001267550.2(TTN):c.68527G>C (p.Asp22843His)
NM_001267550.2(TTN):c.68555A>T (p.Asn22852Ile)
NM_001267550.2(TTN):c.68824+3A>G
NM_001267550.2(TTN):c.6884T>C (p.Ile2295Thr) rs1561265332
NM_001267550.2(TTN):c.68921A>G (p.Lys22974Arg) rs1559471235
NM_001267550.2(TTN):c.68990C>A (p.Thr22997Asn) rs886043272
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu) rs886055251
NM_001267550.2(TTN):c.69172A>T (p.Thr23058Ser) rs752304059
NM_001267550.2(TTN):c.69212C>T (p.Pro23071Leu) rs367664195
NM_001267550.2(TTN):c.69331A>G (p.Ile23111Val) rs1398776954
NM_001267550.2(TTN):c.69412+5G>A
NM_001267550.2(TTN):c.69490G>A (p.Val23164Met) rs755341733
NM_001267550.2(TTN):c.69506G>T (p.Ser23169Ile) rs879245080
NM_001267550.2(TTN):c.69565G>A (p.Ala23189Thr)
NM_001267550.2(TTN):c.69715+5G>C rs1553615539
NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)
NM_001267550.2(TTN):c.69715_69715+3dup rs2154173093
NM_001267550.2(TTN):c.69748A>T (p.Thr23250Ser) rs1060500455
NM_001267550.2(TTN):c.69837T>A (p.His23279Gln) rs752879532
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro) rs767208489
NM_001267550.2(TTN):c.70120C>G (p.Pro23374Ala) rs1553614524
NM_001267550.2(TTN):c.70153C>G (p.Leu23385Val) rs769672151
NM_001267550.2(TTN):c.70195C>G (p.Leu23399Val) rs1709920958
NM_001267550.2(TTN):c.70244T>A (p.Met23415Lys) rs765861604
NM_001267550.2(TTN):c.70324C>A (p.Leu23442Met) rs1553614105
NM_001267550.2(TTN):c.70480T>C (p.Tyr23494His) rs72646888
NM_001267550.2(TTN):c.7057+5G>T
NM_001267550.2(TTN):c.70579G>A (p.Val23527Ile) rs542004766
NM_001267550.2(TTN):c.70597C>T (p.Pro23533Ser) rs886055250
NM_001267550.2(TTN):c.70655C>T (p.Ala23552Val) rs754742503
NM_001267550.2(TTN):c.70700A>C (p.Tyr23567Ser) rs1004548694
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile) rs397517687
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu) rs368325616
NM_001267550.2(TTN):c.70830C>A (p.Ser23610Arg) rs12464787
NM_001267550.2(TTN):c.70946ACA[1] (p.Asn23650del) rs794729336
NM_001267550.2(TTN):c.71140G>A (p.Glu23714Lys) rs767016969
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp) rs774327480
NM_001267550.2(TTN):c.71249C>T (p.Pro23750Leu)
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
NM_001267550.2(TTN):c.71305A>T (p.Thr23769Ser) rs776889753
NM_001267550.2(TTN):c.71371C>T (p.Leu23791Phe)
NM_001267550.2(TTN):c.71388G>T (p.Glu23796Asp) rs878854330
NM_001267550.2(TTN):c.71408C>T (p.Ala23803Val) rs1553611543
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu) rs377751708
NM_001267550.2(TTN):c.71544T>G (p.His23848Gln)
NM_001267550.2(TTN):c.71568C>A (p.Ser23856Arg) rs1060500519
NM_001267550.2(TTN):c.71612T>C (p.Ile23871Thr) rs770250820
NM_001267550.2(TTN):c.71654T>C (p.Ile23885Thr) rs1488254665
NM_001267550.2(TTN):c.71819C>T (p.Thr23940Ile) rs1553610793
NM_001267550.2(TTN):c.71833T>C (p.Trp23945Arg) rs553796385
NM_001267550.2(TTN):c.71876A>G (p.Tyr23959Cys) rs1709290294
NM_001267550.2(TTN):c.71891G>A (p.Arg23964Lys) rs770679732
NM_001267550.2(TTN):c.718G>T (p.Val240Phe)
NM_001267550.2(TTN):c.71956G>A (p.Val23986Ile) rs754373279
NM_001267550.2(TTN):c.71993G>C (p.Arg23998Pro)
NM_001267550.2(TTN):c.71C>T (p.Thr24Ile) rs536235994
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr) rs760895168
NM_001267550.2(TTN):c.72106A>C (p.Lys24036Gln) rs544263357
NM_001267550.2(TTN):c.72106A>G (p.Lys24036Glu) rs544263357
NM_001267550.2(TTN):c.72149A>G (p.Glu24050Gly) rs771209223
NM_001267550.2(TTN):c.72166C>A (p.Arg24056Ser) rs372662393
NM_001267550.2(TTN):c.72231A>C (p.Glu24077Asp) rs1423712037
NM_001267550.2(TTN):c.7229A>C (p.His2410Pro) rs747828487
NM_001267550.2(TTN):c.72497G>A (p.Ser24166Asn) rs886055248
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp) rs964700696
NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val) rs1709019921
NM_001267550.2(TTN):c.72528A>C (p.Glu24176Asp) rs878854331
NM_001267550.2(TTN):c.72572A>C (p.Asn24191Thr) rs1479698498
NM_001267550.2(TTN):c.72611G>A (p.Gly24204Glu) rs1553609189
NM_001267550.2(TTN):c.72716T>C (p.Met24239Thr) rs750298083
NM_001267550.2(TTN):c.72743C>G (p.Ser24248Cys) rs1060500474
NM_001267550.2(TTN):c.72923C>G (p.Pro24308Arg) rs1553608507
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)
NM_001267550.2(TTN):c.7300C>T (p.Leu2434Phe) rs879004898
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys) rs1553608093
NM_001267550.2(TTN):c.73169C>A (p.Thr24390Lys) rs1060500583
NM_001267550.2(TTN):c.73334C>A (p.Thr24445Asn) rs377334665
NM_001267550.2(TTN):c.73563C>G (p.Gly24521=) rs756809007
NM_001267550.2(TTN):c.73570C>A (p.Gln24524Lys) rs753429609
NM_001267550.2(TTN):c.7365T>G (p.Asn2455Lys) rs777738635
NM_001267550.2(TTN):c.7368G>C (p.Val2456=) rs886055301
NM_001267550.2(TTN):c.73776G>A (p.Arg24592=) rs886055247
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile) rs1060500561
NM_001267550.2(TTN):c.73896_73897insACT (p.Ser24632_Val24633insThr) rs1060500433
NM_001267550.2(TTN):c.73904T>C (p.Leu24635Pro) rs1553606189
NM_001267550.2(TTN):c.73954A>G (p.Ile24652Val) rs760045336
NM_001267550.2(TTN):c.74021C>T (p.Ala24674Val) rs1158950009
NM_001267550.2(TTN):c.74024C>G (p.Thr24675Ser) rs1553606008
NM_001267550.2(TTN):c.7403T>C (p.Val2468Ala) rs886055300
NM_001267550.2(TTN):c.74057C>T (p.Ser24686Phe) rs727504921
NM_001267550.2(TTN):c.7408G>A (p.Val2470Ile) rs1228257559
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile) rs1055906361
NM_001267550.2(TTN):c.74508T>C (p.Asp24836=) rs1060503924
NM_001267550.2(TTN):c.74519C>A (p.Ser24840Tyr) rs1060500559
NM_001267550.2(TTN):c.74573T>C (p.Ile24858Thr) rs1708197097
NM_001267550.2(TTN):c.74608G>C (p.Ala24870Pro) rs768892376
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)
NM_001267550.2(TTN):c.74612G>A (p.Cys24871Tyr) rs1553604956
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.74704G>A (p.Ala24902Thr) rs1260354990
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001267550.2(TTN):c.74830C>A (p.His24944Asn) rs779868325
NM_001267550.2(TTN):c.74895A>G (p.Gln24965=) rs201512527
NM_001267550.2(TTN):c.74988A>C (p.Lys24996Asn) rs933609400
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter) rs1561253718
NM_001267550.2(TTN):c.75020G>A (p.Cys25007Tyr)
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.75161T>C (p.Met25054Thr) rs1553604004
NM_001267550.2(TTN):c.75255T>C (p.Asn25085=) rs1707950573
NM_001267550.2(TTN):c.75277C>G (p.Pro25093Ala) rs748359400
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75311A>T (p.Asp25104Val) rs534319705
NM_001267550.2(TTN):c.75325C>T (p.Pro25109Ser) rs1060500498
NM_001267550.2(TTN):c.75359C>A (p.Thr25120Lys) rs878854333
NM_001267550.2(TTN):c.75489C>T (p.Thr25163=) rs1234238096
NM_001267550.2(TTN):c.75634G>C (p.Val25212Leu) rs1707781335
NM_001267550.2(TTN):c.75653C>T (p.Thr25218Ile) rs1060500521
NM_001267550.2(TTN):c.75706G>A (p.Asp25236Asn) rs1707754880
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro) rs1559388448
NM_001267550.2(TTN):c.75913C>T (p.Pro25305Ser) rs1005621705
NM_001267550.2(TTN):c.7594+3A>G rs769765778
NM_001267550.2(TTN):c.75952A>G (p.Lys25318Glu) rs878854334
NM_001267550.2(TTN):c.75968T>G (p.Val25323Gly) rs781058398
NM_001267550.2(TTN):c.76186T>G (p.Tyr25396Asp) rs771853872
NM_001267550.2(TTN):c.76187A>G (p.Tyr25396Cys) rs1060500403
NM_001267550.2(TTN):c.7624C>T (p.Leu2542Phe) rs762722498
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) rs765136135
NM_001267550.2(TTN):c.7628C>T (p.Thr2543Ile) rs765136135
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp) rs748296171
NM_001267550.2(TTN):c.76492C>A (p.Pro25498Thr) rs377754701
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76607G>T (p.Gly25536Val) rs1021201663
NM_001267550.2(TTN):c.7663G>A (p.Glu2555Lys)
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu) rs1002726225
NM_001267550.2(TTN):c.76711G>A (p.Val25571Ile) rs760782774
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76802C>A (p.Thr25601Lys)
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met) rs374913031
NM_001267550.2(TTN):c.76838T>A (p.Ile25613Asn) rs1553601096
NM_001267550.2(TTN):c.76858A>G (p.Ile25620Val) rs773656560
NM_001267550.2(TTN):c.76931C>T (p.Thr25644Ile) rs1060500456
NM_001267550.2(TTN):c.76981A>G (p.Lys25661Glu) rs1553600919
NM_001267550.2(TTN):c.7705G>A (p.Asp2569Asn) rs2091797961
NM_001267550.2(TTN):c.77182A>G (p.Ser25728Gly) rs1306199809
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.77260C>A (p.Leu25754Ile)
NM_001267550.2(TTN):c.77365A>T (p.Ile25789Leu) rs1253687329
NM_001267550.2(TTN):c.77365dup (p.Ile25789fs)
NM_001267550.2(TTN):c.77389G>C (p.Glu25797Gln)
NM_001267550.2(TTN):c.7744G>A (p.Ala2582Thr) rs1060500576
NM_001267550.2(TTN):c.77618C>T (p.Ala25873Val) rs751402631
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu) rs780196850
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del) rs754571796
NM_001267550.2(TTN):c.7789G>T (p.Asp2597Tyr) rs1553999887
NM_001267550.2(TTN):c.77911T>C (p.Tyr25971His) rs1432174919
NM_001267550.2(TTN):c.78006_78020del (p.Ile26002_Ser26006del) rs1064792913
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile) rs786205378
NM_001267550.2(TTN):c.7807A>G (p.Thr2603Ala) rs775528928
NM_001267550.2(TTN):c.78118G>A (p.Val26040Ile) rs576341346
NM_001267550.2(TTN):c.78193G>A (p.Val26065Met) rs1371536406
NM_001267550.2(TTN):c.78370A>G (p.Ile26124Val) rs397517713
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) rs778290450
NM_001267550.2(TTN):c.78466G>T (p.Asp26156Tyr) rs1553595170
NM_001267550.2(TTN):c.78541C>T (p.Pro26181Ser) rs1553594900
NM_001267550.2(TTN):c.7855+5G>C
NM_001267550.2(TTN):c.7855G>A (p.Gly2619Ser)
NM_001267550.2(TTN):c.7856G>A (p.Gly2619Asp)
NM_001267550.2(TTN):c.7862C>T (p.Ala2621Val) rs753441258
NM_001267550.2(TTN):c.78637C>T (p.Leu26213Phe) rs1553594441
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln) rs754878387
NM_001267550.2(TTN):c.78707A>T (p.Glu26236Val) rs1559361218
NM_001267550.2(TTN):c.78769A>G (p.Ile26257Val)
NM_001267550.2(TTN):c.79106T>C (p.Val26369Ala) rs1706144836
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu) rs727505061
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu) rs1377015752
NM_001267550.2(TTN):c.79264A>C (p.Ile26422Leu) rs1553590996
NM_001267550.2(TTN):c.79333C>T (p.Arg26445Cys) rs780658084
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg) rs745433704
NM_001267550.2(TTN):c.79645G>C (p.Glu26549Gln) rs1705910626
NM_001267550.2(TTN):c.79861_79862inv (p.Thr26621Val)
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.79987_79989del (p.Leu26663del) rs1193943076
NM_001267550.2(TTN):c.80159T>C (p.Ile26720Thr) rs879183549
NM_001267550.2(TTN):c.80252C>T (p.Ala26751Val) rs912122514
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)
NM_001267550.2(TTN):c.80351C>G (p.Pro26784Arg) rs1553584164
NM_001267550.2(TTN):c.80459A>C (p.Gln26820Pro)
NM_001267550.2(TTN):c.80484C>G (p.Ser26828Arg) rs886055243
NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp) rs768259414
NM_001267550.2(TTN):c.80890A>G (p.Asn26964Asp) rs886055242
NM_001267550.2(TTN):c.80906T>G (p.Val26969Gly) rs1705274718
NM_001267550.2(TTN):c.80950G>A (p.Glu26984Lys) rs1060500562
NM_001267550.2(TTN):c.81017G>T (p.Ser27006Ile) rs886055241
NM_001267550.2(TTN):c.81022T>G (p.Tyr27008Asp) rs72648211
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn) rs550999055
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del) rs1163103954
NM_001267550.2(TTN):c.8116+5G>A rs1561231691
NM_001267550.2(TTN):c.81233C>A (p.Thr27078Asn) rs1553578982
NM_001267550.2(TTN):c.81302G>A (p.Gly27101Asp) rs201490050
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln) rs727504735
NM_001267550.2(TTN):c.81373A>C (p.Thr27125Pro) rs1362825687
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile) rs757768218
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly) rs794729512
NM_001267550.2(TTN):c.81509C>T (p.Pro27170Leu) rs774553407
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.81600C>G (p.Ser27200Arg) rs773107849
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup) rs773439628
NM_001267550.2(TTN):c.81875C>T (p.Thr27292Ile) rs1060500393
NM_001267550.2(TTN):c.81905A>G (p.Lys27302Arg) rs2154162241
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg) rs778983249
NM_001267550.2(TTN):c.82183T>G (p.Leu27395Val)
NM_001267550.2(TTN):c.82186_82187delinsGT (p.Gln27396Val) rs2154161773
NM_001267550.2(TTN):c.82193G>A (p.Gly27398Asp) rs1553574305
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82303C>A (p.Leu27435Ile) rs1060500432
NM_001267550.2(TTN):c.82325T>C (p.Phe27442Ser) rs998149958
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala) rs753766297
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)
NM_001267550.2(TTN):c.82720C>T (p.Pro27574Ser) rs2154161353
NM_001267550.2(TTN):c.82796G>A (p.Gly27599Asp) rs1553571755
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg) rs199929362
NM_001267550.2(TTN):c.8285A>T (p.Tyr2762Phe) rs1553995474
NM_001267550.2(TTN):c.8290C>G (p.Leu2764Val)
NM_001267550.2(TTN):c.82919C>G (p.Thr27640Ser) rs1553571185
NM_001267550.2(TTN):c.83095A>C (p.Ile27699Leu) rs1553570628
NM_001267550.2(TTN):c.83165T>G (p.Ile27722Arg) rs794729515
NM_001267550.2(TTN):c.8317G>A (p.Asp2773Asn)
NM_001267550.2(TTN):c.83192T>C (p.Leu27731Ser) rs886055238
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu) rs371788070
NM_001267550.2(TTN):c.83317T>G (p.Leu27773Val) rs376683928
NM_001267550.2(TTN):c.83416C>G (p.Arg27806Gly) rs886055237
NM_001267550.2(TTN):c.83497G>C (p.Gly27833Arg)
NM_001267550.2(TTN):c.83590C>T (p.Pro27864Ser) rs1553568366
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=) rs760755965
NM_001267550.2(TTN):c.8373C>T (p.His2791=) rs566816279
NM_001267550.2(TTN):c.8380+5G>A
NM_001267550.2(TTN):c.8380+5G>T rs2154342828
NM_001267550.2(TTN):c.83939T>C (p.Leu27980Pro) rs1060500536
NM_001267550.2(TTN):c.84004A>C (p.Thr28002Pro) rs369737884
NM_001267550.2(TTN):c.84196G>A (p.Glu28066Lys) rs1703825463
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr) rs200450022
NM_001267550.2(TTN):c.84299C>T (p.Thr28100Ile)
NM_001267550.2(TTN):c.84304T>C (p.Trp28102Arg) rs1553565393
NM_001267550.2(TTN):c.84332G>A (p.Arg28111Lys) rs1060500463
NM_001267550.2(TTN):c.84335C>G (p.Thr28112Arg)
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe) rs753201539
NM_001267550.2(TTN):c.84353G>A (p.Arg28118His) rs72648220
NM_001267550.2(TTN):c.84554G>A (p.Arg28185Gln)
NM_001267550.2(TTN):c.84794C>A (p.Thr28265Lys) rs376874908
NM_001267550.2(TTN):c.84797_84799del (p.Arg28266del) rs1553564204
NM_001267550.2(TTN):c.84968A>G (p.Tyr28323Cys) rs1285180382
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85243T>C (p.Leu28415=) rs1703401045
NM_001267550.2(TTN):c.85327G>A (p.Val28443Ile)
NM_001267550.2(TTN):c.85402T>C (p.Cys28468Arg) rs1553563147
NM_001267550.2(TTN):c.85449C>T (p.Ile28483=) rs758811159
NM_001267550.2(TTN):c.85450G>T (p.Asp28484Tyr) rs56330345
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met) rs886055234
NM_001267550.2(TTN):c.85748C>T (p.Ser28583Phe) rs1553562507
NM_001267550.2(TTN):c.85769G>C (p.Arg28590Pro) rs375667028
NM_001267550.2(TTN):c.8576C>T (p.Ser2859Leu) rs1574564600
NM_001267550.2(TTN):c.85853G>A (p.Gly28618Glu)
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His) rs1477861188
NM_001267550.2(TTN):c.86030T>C (p.Phe28677Ser) rs1553561985
NM_001267550.2(TTN):c.86242A>G (p.Arg28748Gly) rs1553561470
NM_001267550.2(TTN):c.86248G>A (p.Glu28750Lys)
NM_001267550.2(TTN):c.86290T>A (p.Leu28764Met) rs1553561353
NM_001267550.2(TTN):c.86292G>C (p.Leu28764Phe) rs1553561345
NM_001267550.2(TTN):c.86294T>C (p.Ile28765Thr) rs1553561335
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu) rs561319491
NM_001267550.2(TTN):c.86377A>G (p.Thr28793Ala) rs727505234
NM_001267550.2(TTN):c.86417C>T (p.Ser28806Phe) rs1060500445
NM_001267550.2(TTN):c.86419C>T (p.Arg28807Cys) rs765632053
NM_001267550.2(TTN):c.86456A>C (p.Asp28819Ala)
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe) rs794729519
NM_001267550.2(TTN):c.86727dup (p.Gln28910fs)
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86762G>A (p.Gly28921Glu) rs1553559912
NM_001267550.2(TTN):c.86822-1G>C
NM_001267550.2(TTN):c.86822-8T>G
NM_001267550.2(TTN):c.86851G>C (p.Val28951Leu) rs878854426
NM_001267550.2(TTN):c.8687C>T (p.Thr2896Ile) rs72647884
NM_001267550.2(TTN):c.86974T>G (p.Cys28992Gly) rs769162510
NM_001267550.2(TTN):c.87119-1G>C
NM_001267550.2(TTN):c.87145T>C (p.Phe29049Leu) rs1553556217
NM_001267550.2(TTN):c.87329C>T (p.Ala29110Val) rs763682832
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His) rs1181280302
NM_001267550.2(TTN):c.87407A>C (p.Asp29136Ala) rs768756948
NM_001267550.2(TTN):c.87445G>A (p.Asp29149Asn)
NM_001267550.2(TTN):c.87535G>C (p.Glu29179Gln) rs1553554743
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del) rs753636173
NM_001267550.2(TTN):c.87706+1G>C
NM_001267550.2(TTN):c.87733T>C (p.Trp29245Arg) rs771722716
NM_001267550.2(TTN):c.87781C>T (p.Pro29261Ser)
NM_001267550.2(TTN):c.87904A>T (p.Ile29302Phe) rs1553552999
NM_001267550.2(TTN):c.88010-2dup rs1701799962
NM_001267550.2(TTN):c.88033A>G (p.Thr29345Ala) rs878854427
NM_001267550.2(TTN):c.88047G>A (p.Lys29349=) rs748102856
NM_001267550.2(TTN):c.88047G>C (p.Lys29349Asn) rs748102856
NM_001267550.2(TTN):c.88106G>A (p.Gly29369Asp) rs55898359
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.88238G>A (p.Arg29413Lys) rs1553551467
NM_001267550.2(TTN):c.88280G>A (p.Gly29427Glu) rs1188741659
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.88593T>C (p.Leu29531=) rs1553547141
NM_001267550.2(TTN):c.88594+5G>T
NM_001267550.2(TTN):c.88694A>C (p.Lys29565Thr) rs1263180064
NM_001267550.2(TTN):c.88708A>C (p.Ile29570Leu) rs139506970
NM_001267550.2(TTN):c.88774A>G (p.Ile29592Val) rs1700602244
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys) rs1553545836
NM_001267550.2(TTN):c.88829C>A (p.Ala29610Asp) rs1060500410
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys) rs767347782
NM_001267550.2(TTN):c.88851C>T (p.Gly29617=) rs201241167
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys) rs879222602
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala) rs766178585
NM_001267550.2(TTN):c.88894+5G>A rs2154152920
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys) rs1221486073
NM_001267550.2(TTN):c.88951A>G (p.Thr29651Ala) rs879233366
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu) rs200639218
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del) rs771616392
NM_001267550.2(TTN):c.8902C>G (p.Pro2968Ala) rs773875566
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
NM_001267550.2(TTN):c.89195T>A (p.Ile29732Asn) rs769020530
NM_001267550.2(TTN):c.89197+2dup rs2154152416
NM_001267550.2(TTN):c.89197+5G>A rs1060500534
NM_001267550.2(TTN):c.89392T>A (p.Ser29798Thr) rs886055232
NM_001267550.2(TTN):c.89458G>A (p.Glu29820Lys)
NM_001267550.2(TTN):c.89479C>G (p.Pro29827Ala) rs201620815
NM_001267550.2(TTN):c.89494G>C (p.Asp29832His) rs878854430
NM_001267550.2(TTN):c.89500C>G (p.Leu29834Val) rs761591533
NM_001267550.2(TTN):c.89503+5G>T rs2154152059
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly) rs1700105269
NM_001267550.2(TTN):c.89704G>A (p.Val29902Ile)
NM_001267550.2(TTN):c.89711G>T (p.Arg29904Leu) rs397517744
NM_001267550.2(TTN):c.89716G>A (p.Asp29906Asn) rs770892973
NM_001267550.2(TTN):c.89776G>A (p.Val29926Met) rs1553541468
NM_001267550.2(TTN):c.89857C>T (p.Leu29953Phe)
NM_001267550.2(TTN):c.8989A>G (p.Ile2997Val) rs879242806
NM_001267550.2(TTN):c.89953C>T (p.His29985Tyr) rs557248616
NM_001267550.2(TTN):c.89G>A (p.Ser30Asn) rs767153909
NM_001267550.2(TTN):c.90244A>G (p.Ile30082Val) rs777636306
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe) rs750520740
NM_001267550.2(TTN):c.90512C>T (p.Pro30171Leu) rs2154151253
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly) rs769360937
NM_001267550.2(TTN):c.90614T>C (p.Ile30205Thr) rs1283032526
NM_001267550.2(TTN):c.90656T>A (p.Val30219Asp) rs1060500535
NM_001267550.2(TTN):c.9065C>T (p.Thr3022Ile)
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.90814T>A (p.Trp30272Arg) rs777716014
NM_001267550.2(TTN):c.90819G>T (p.Lys30273Asn) rs1307577297
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg) rs397517751
NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) rs786205537
NM_001267550.2(TTN):c.90941G>C (p.Ser30314Thr) rs763875418
NM_001267550.2(TTN):c.90944T>C (p.Ile30315Thr) rs755698637
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr) rs11887722
NM_001267550.2(TTN):c.91+5G>C
NM_001267550.2(TTN):c.91+5G>T
NM_001267550.2(TTN):c.91153A>G (p.Arg30385Gly)
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn) rs774523194
NM_001267550.2(TTN):c.91270+4A>G rs1699482474
NM_001267550.2(TTN):c.91288G>A (p.Asp30430Asn) rs1060500406
NM_001267550.2(TTN):c.91316T>C (p.Ile30439Thr) rs561319486
NM_001267550.2(TTN):c.914+3A>G
NM_001267550.2(TTN):c.914+4A>C
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.91514T>C (p.Ile30505Thr) rs1699227127
NM_001267550.2(TTN):c.91542TAT[1] (p.Ile30515del) rs748002494
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91564+5G>A rs758591518
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)
NM_001267550.2(TTN):c.91707G>C (p.Lys30569Asn) rs1060500543
NM_001267550.2(TTN):c.91753T>G (p.Phe30585Val) rs1060500507
NM_001267550.2(TTN):c.91760_91762del (p.Arg30587_Asp30588delinsAsn) rs1060500517
NM_001267550.2(TTN):c.91852+3A>G
NM_001267550.2(TTN):c.91871T>C (p.Val30624Ala) rs886055231
NM_001267550.2(TTN):c.91999T>C (p.Trp30667Arg) rs72648246
NM_001267550.2(TTN):c.92336G>C (p.Arg30779Thr) rs1289817129
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg) rs979303656
NM_001267550.2(TTN):c.92417C>A (p.Ala30806Glu) rs1060500407
NM_001267550.2(TTN):c.92434C>A (p.Leu30812Ile) rs776239659
NM_001267550.2(TTN):c.92645C>A (p.Thr30882Lys) rs1698296911
NM_001267550.2(TTN):c.92691T>A (p.Ser30897Arg) rs1553532921
NM_001267550.2(TTN):c.92755C>T (p.Arg30919Trp)
NM_001267550.2(TTN):c.92756G>A (p.Arg30919Gln)
NM_001267550.2(TTN):c.92785G>A (p.Ala30929Thr) rs1192451781
NM_001267550.2(TTN):c.92871T>G (p.Ala30957=)
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.92944A>G (p.Thr30982Ala) rs1060500555
NM_001267550.2(TTN):c.92979A>C (p.Lys30993Asn) rs754893239
NM_001267550.2(TTN):c.92991T>C (p.Thr30997=) rs1553531443
NM_001267550.2(TTN):c.93040C>G (p.Leu31014Val) rs1060500404
NM_001267550.2(TTN):c.93043G>C (p.Asp31015His)
NM_001267550.2(TTN):c.93047C>T (p.Thr31016Ile) rs1553531270
NM_001267550.2(TTN):c.9305+4A>G rs746628782
NM_001267550.2(TTN):c.93071C>T (p.Thr31024Ile)
NM_001267550.2(TTN):c.93105G>T (p.Leu31035Phe) rs1553531017
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys) rs750213547
NM_001267550.2(TTN):c.93178C>T (p.Arg31060Cys) rs750303653
NM_001267550.2(TTN):c.93601T>C (p.Phe31201Leu) rs1553528695
NM_001267550.2(TTN):c.93607T>C (p.Ser31203Pro) rs1553528649
NM_001267550.2(TTN):c.93646G>A (p.Asp31216Asn) rs1321355074
NM_001267550.2(TTN):c.93665A>G (p.Asn31222Ser) rs1559164640
NM_001267550.2(TTN):c.93680G>A (p.Cys31227Tyr) rs1260979974
NM_001267550.2(TTN):c.93692G>A (p.Ser31231Asn) rs1060500565
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr) rs1246425366
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg) rs1553527043
NM_001267550.2(TTN):c.94039G>C (p.Glu31347Gln) rs886055230
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu) rs794729536
NM_001267550.2(TTN):c.94180C>T (p.Pro31394Ser) rs1321500671
NM_001267550.2(TTN):c.94239C>A (p.Thr31413=) rs1042759526
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.94282C>G (p.Arg31428Gly) rs190282707
NM_001267550.2(TTN):c.94282C>T (p.Arg31428Cys) rs190282707
NM_001267550.2(TTN):c.94285T>A (p.Trp31429Arg)
NM_001267550.2(TTN):c.94349G>A (p.Arg31450His) rs751985617
NM_001267550.2(TTN):c.94399A>C (p.Asn31467His) rs1553524710
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys) rs879013044
NM_001267550.2(TTN):c.9448C>G (p.Arg3150Gly) rs146572907
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)
NM_001267550.2(TTN):c.94522+5G>T rs767084102
NM_001267550.2(TTN):c.94523A>G (p.Asp31508Gly) rs772571812
NM_001267550.2(TTN):c.94747C>T (p.Arg31583Cys)
NM_001267550.2(TTN):c.94771G>C (p.Gly31591Arg) rs1697305563
NM_001267550.2(TTN):c.94864G>A (p.Gly31622Ser) rs1385680314
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001267550.2(TTN):c.95119+5G>A
NM_001267550.2(TTN):c.95132C>T (p.Pro31711Leu)
NM_001267550.2(TTN):c.95146A>G (p.Thr31716Ala) rs1575444115
NM_001267550.2(TTN):c.95152A>C (p.Ser31718Arg) rs781462223
NM_001267550.2(TTN):c.95158G>A (p.Val31720Ile) rs1575443877
NM_001267550.2(TTN):c.95163A>G (p.Thr31721=) rs376944872
NM_001267550.2(TTN):c.95173T>C (p.Cys31725Arg)
NM_001267550.2(TTN):c.95174G>A (p.Cys31725Tyr)
NM_001267550.2(TTN):c.95179T>G (p.Leu31727Val)
NM_001267550.2(TTN):c.95182G>A (p.Ala31728Thr)
NM_001267550.2(TTN):c.95188A>T (p.Ser31730Cys) rs1213250473
NM_001267550.2(TTN):c.95190C>A (p.Ser31730Arg) rs1696951026
NM_001267550.2(TTN):c.95191C>T (p.Leu31731Phe) rs1364685585
NM_001267550.2(TTN):c.95206G>A (p.Gly31736Arg) rs771799061
NM_001267550.2(TTN):c.95207G>C (p.Gly31736Ala) rs1401862112
NM_001267550.2(TTN):c.95222C>T (p.Thr31741Ile) rs1553521179
NM_001267550.2(TTN):c.95224C>G (p.His31742Asp)
NM_001267550.2(TTN):c.95237A>G (p.Glu31746Gly)
NM_001267550.2(TTN):c.95240G>A (p.Arg31747Lys)
NM_001267550.2(TTN):c.95258T>C (p.Leu31753Pro)
NM_001267550.2(TTN):c.95265G>T (p.Trp31755Cys)
NM_001267550.2(TTN):c.95272G>C (p.Val31758Leu) rs1696907299
NM_001267550.2(TTN):c.95279G>A (p.Gly31760Asp) rs1696902914
NM_001267550.2(TTN):c.95290A>G (p.Thr31764Ala) rs1175551497
NM_001267550.2(TTN):c.95300A>G (p.Tyr31767Cys) rs1431446089
NM_001267550.2(TTN):c.95302G>A (p.Val31768Ile)
NM_001267550.2(TTN):c.95302G>C (p.Val31768Leu) rs1696890603
NM_001267550.2(TTN):c.95314C>T (p.Leu31772Phe) rs2154145497
NM_001267550.2(TTN):c.95326A>T (p.Asn31776Tyr) rs2154145486
NM_001267550.2(TTN):c.95327A>G (p.Asn31776Ser) rs1696881072
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu) rs886039071
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) rs1334781459
NM_001267550.2(TTN):c.95342G>A (p.Arg31781Gln) rs748984928
NM_001267550.2(TTN):c.95342G>C (p.Arg31781Pro) rs748984928
NM_001267550.2(TTN):c.95350G>A (p.Ala31784Thr)
NM_001267550.2(TTN):c.95351C>A (p.Ala31784Glu)
NM_001267550.2(TTN):c.95353G>A (p.Val31785Ile)
NM_001267550.2(TTN):c.95357A>G (p.Asn31786Ser) rs1696865626
NM_001267550.2(TTN):c.95361A>T (p.Lys31787Asn)
NM_001267550.2(TTN):c.95368C>G (p.Pro31790Ala)
NM_001267550.2(TTN):c.95371G>C (p.Gly31791Arg) rs1696856005
NM_001267550.2(TTN):c.95372G>C (p.Gly31791Ala) rs869320744
NM_001267550.2(TTN):c.95374G>A (p.Val31792Met)
NM_001267550.2(TTN):c.95375T>G (p.Val31792Gly)
NM_001267550.2(TTN):c.95377C>A (p.Pro31793Thr) rs1466581888
NM_001267550.2(TTN):c.9538T>C (p.Tyr3180His) rs1553987902
NM_001267550.2(TTN):c.95396T>C (p.Ile31799Thr)
NM_001267550.2(TTN):c.95404A>G (p.Arg31802Gly)
NM_001267550.2(TTN):c.95415C>G (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.95416+5G>T rs1696830213
NM_001267550.2(TTN):c.95480A>T (p.Gln31827Leu) rs1553520567
NM_001267550.2(TTN):c.95484G>C (p.Trp31828Cys) rs1553520556
NM_001267550.2(TTN):c.95490A>G (p.Lys31830=) rs1696713042
NM_001267550.2(TTN):c.9551T>C (p.Ile3184Thr) rs1553987863
NM_001267550.2(TTN):c.95540G>C (p.Arg31847Pro) rs771179752
NM_001267550.2(TTN):c.95543AGA[2] (p.Lys31850del) rs727504556
NM_001267550.2(TTN):c.95560T>C (p.Trp31854Arg)
NM_001267550.2(TTN):c.95698T>C (p.Phe31900Leu) rs1553520146
NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys) rs33997263
NM_001267550.2(TTN):c.95722+3G>T
NM_001267550.2(TTN):c.95931G>A (p.Met31977Ile) rs1575423808
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.96011A>G (p.Glu32004Gly) rs1553519065
NM_001267550.2(TTN):c.96026T>G (p.Ile32009Arg) rs375368824
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.96303_96310+4del
NM_001267550.2(TTN):c.96378G>C (p.Trp32126Cys) rs794729542
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96406C>T (p.Pro32136Ser) rs1553518099
NM_001267550.2(TTN):c.96445A>G (p.Met32149Val) rs972033083
NM_001267550.2(TTN):c.96491A>G (p.Tyr32164Cys) rs886055229
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro) rs2154143527
NM_001267550.2(TTN):c.96563G>A (p.Gly32188Glu)
NM_001267550.2(TTN):c.96676C>A (p.Pro32226Thr) rs1060500595
NM_001267550.2(TTN):c.96743G>A (p.Arg32248Lys) rs967418486
NM_001267550.2(TTN):c.96868G>A (p.Glu32290Lys) rs1060500512
NM_001267550.2(TTN):c.96887C>T (p.Thr32296Ile) rs773279450
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.96904G>A (p.Val32302Met) rs1339368168
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met) rs956461857
NM_001267550.2(TTN):c.9703+5G>A rs2090429977
NM_001267550.2(TTN):c.97045G>A (p.Glu32349Lys) rs1695237277
NM_001267550.2(TTN):c.97054C>G (p.Arg32352Gly) rs753874904
NM_001267550.2(TTN):c.97192+5G>A rs2154142801
NM_001267550.2(TTN):c.97204_97205delinsAG (p.Pro32402Arg) rs864622675
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp) rs1060500592
NM_001267550.2(TTN):c.97318C>T (p.Arg32440Cys) rs759932470
NM_001267550.2(TTN):c.97388G>A (p.Arg32463Lys) rs1257117887
NM_001267550.2(TTN):c.97410T>C (p.Tyr32470=) rs886055228
NM_001267550.2(TTN):c.97524A>G (p.Ile32508Met) rs755848026
NM_001267550.2(TTN):c.97592T>A (p.Val32531Glu) rs1060500477
NM_001267550.2(TTN):c.97592T>C (p.Val32531Ala) rs1060500477
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr) rs766499138
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.97795G>A (p.Ala32599Thr) rs1694398754
NM_001267550.2(TTN):c.97888T>G (p.Ser32630Ala) rs1553512070
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser) rs1693772565
NM_001267550.2(TTN):c.97978T>G (p.Tyr32660Asp) rs781416687
NM_001267550.2(TTN):c.97992C>A (p.His32664Gln) rs794729549
NM_001267550.2(TTN):c.98051G>C (p.Gly32684Ala) rs774041992
NM_001267550.2(TTN):c.98098G>C (p.Glu32700Gln)
NM_001267550.2(TTN):c.98164A>C (p.Ile32722Leu) rs72648270
NM_001267550.2(TTN):c.98214G>C (p.Trp32738Cys) rs764039252
NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn) rs886042542
NM_001267550.2(TTN):c.98218A>G (p.Lys32740Glu) rs1553510781
NM_001267550.2(TTN):c.98299A>G (p.Arg32767Gly) rs1553510330
NM_001267550.2(TTN):c.9839C>A (p.Ser3280Tyr) rs747768723
NM_001267550.2(TTN):c.9849C>G (p.Phe3283Leu) rs780860026
NM_001267550.2(TTN):c.98515C>A (p.Pro32839Thr) rs949917519
NM_001267550.2(TTN):c.98524G>T (p.Ala32842Ser) rs199647622
NM_001267550.2(TTN):c.98617G>A (p.Glu32873Lys) rs1575354700
NM_001267550.2(TTN):c.98660C>A (p.Pro32887Gln)
NM_001267550.2(TTN):c.98683+3A>C rs1693285723
NM_001267550.2(TTN):c.98683+3A>G rs1693285723
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp) rs755031142
NM_001267550.2(TTN):c.9875A>G (p.Gln3292Arg) rs794729586
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.98990-8T>C rs1553507751
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp) rs1060500594
NM_001267550.2(TTN):c.99162G>C (p.Lys33054Asn) rs368686031
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly) rs1172364516
NM_001267550.2(TTN):c.99239G>A (p.Gly33080Glu) rs762905152
NM_001267550.2(TTN):c.99265_99266del (p.Met33089fs)
NM_001267550.2(TTN):c.99277A>T (p.Thr33093Ser) rs748796464
NM_001267550.2(TTN):c.99289T>C (p.Ser33097Pro)
NM_001267550.2(TTN):c.99371T>C (p.Ile33124Thr)
NM_001267550.2(TTN):c.99412G>C (p.Gly33138Arg)
NM_001267550.2(TTN):c.99506G>A (p.Gly33169Asp)
NM_001267550.2(TTN):c.99515C>A (p.Thr33172Asn) rs1060500510
NM_001267550.2(TTN):c.99536T>A (p.Val33179Asp) rs576759867
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg) rs1553504950
NM_001267550.2(TTN):c.99631G>A (p.Gly33211Ser) rs1553504771
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)
NM_001267550.2(TTN):c.99667C>T (p.Arg33223Cys)
NM_001267550.2(TTN):c.99727A>G (p.Ile33243Val) rs1553504488
NM_001267550.2(TTN):c.99774T>A (p.Asn33258Lys) rs758792040
NM_001267550.2(TTN):c.99787A>G (p.Thr33263Ala) rs369648529
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe) rs397517780
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99865+2T>C
NM_001267550.2(TTN):c.99865+3A>T rs1692081223
NM_001267550.2(TTN):c.99877_99878delinsGT (p.Lys33293Val) rs2154138101
NM_001267550.2(TTN):c.9988G>T (p.Val3330Phe) rs2090011986
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=) rs886055227
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001271208.1(NEB):c.7651_7656del6 rs1553983947
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
NM_001289808.2(CRYAB):c.*107A>G rs886047686
NM_001289808.2(CRYAB):c.*38G>C rs781853968
NM_001289808.2(CRYAB):c.*39T>C rs782808506
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
NM_001289808.2(CRYAB):c.176G>A (p.Ser59Asn) rs1555165546
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) rs782520163
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) rs781902168
NM_001289808.2(CRYAB):c.327T>G (p.Asp109Glu)
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) rs1555165594
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly) rs2137378339
NM_001289808.2(CRYAB):c.519del (p.Lys174fs) rs1566402173
NM_001368067.1(LDB3):c.322-1G>A
NM_001368067.1(LDB3):c.323T>C (p.Val108Ala)
NM_001368067.1(LDB3):c.326T>G (p.Val109Gly) rs2132390366
NM_001368067.1(LDB3):c.332A>G (p.Asn111Ser) rs1845427971
NM_001368067.1(LDB3):c.338C>T (p.Pro113Leu)
NM_001368067.1(LDB3):c.344+2T>C rs1264291601
NM_001368067.1(LDB3):c.349G>C (p.Asp117His) rs121908338
NM_001368067.1(LDB3):c.353A>C (p.Tyr118Ser) rs1845519689
NM_001368067.1(LDB3):c.355C>T (p.Gln119Ter) rs1564639205
NM_001368067.1(LDB3):c.358G>A (p.Glu120Lys) rs773370724
NM_001368067.1(LDB3):c.362G>A (p.Arg121His)
NM_001368067.1(LDB3):c.364T>A (p.Phe122Ile) rs1845520743
NM_001368067.1(LDB3):c.369C>A (p.Asn123Lys)
NM_001368067.1(LDB3):c.371C>T (p.Pro124Leu)
NM_001368067.1(LDB3):c.374G>A (p.Ser125Asn)
NM_001368067.1(LDB3):c.380T>C (p.Leu127Pro)
NM_001368067.1(LDB3):c.382A>C (p.Lys128Gln) rs2132396809
NM_001368067.1(LDB3):c.389C>T (p.Ser130Leu)
NM_001368067.1(LDB3):c.405C>G (p.His135Gln) rs928294708
NM_001368067.1(LDB3):c.410C>A (p.Pro137His)
NM_001368067.1(LDB3):c.413T>A (p.Ile138Asn)
NM_001368067.1(LDB3):c.433G>C (p.Gly145Arg)
NM_001368067.1(LDB3):c.440C>G (p.Ala147Gly)
NM_001368067.1(LDB3):c.443C>T (p.Thr148Ile)
NM_001368067.1(LDB3):c.448A>G (p.Ile150Val)
NM_001368067.1(LDB3):c.452A>G (p.His151Arg)
NM_001368067.1(LDB3):c.455C>T (p.Ala152Val) rs753193786
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001368067.1(LDB3):c.467C>T (p.Thr156Met) rs778658354
NM_001368067.1(LDB3):c.472A>G (p.Ile158Val) rs1845528164
NM_001368067.1(LDB3):c.480G>A (p.Met160Ile) rs1413446799
NM_001368067.1(LDB3):c.490G>A (p.Asp164Asn)
NM_001368067.1(LDB3):c.491A>G (p.Asp164Gly)
NM_001368067.1(LDB3):c.503A>T (p.Asp168Val)
NM_001368067.1(LDB3):c.511G>T (p.Ala171Ser) rs373632943
NM_001368067.1(LDB3):c.518A>T (p.Gln173Leu)
NM_001368067.1(LDB3):c.544A>C (p.Ser182Arg)
NM_001368067.1(LDB3):c.772G>A (p.Glu258Lys) rs868365512
NM_001368067.1(LDB3):c.775C>T (p.Arg259Cys)
NM_001368067.1(LDB3):c.776G>T (p.Arg259Leu)
NM_001368067.1(LDB3):c.779A>C (p.Asn260Thr)
NM_001368067.1(LDB3):c.779A>G (p.Asn260Ser) rs1299041306
NM_001368067.1(LDB3):c.779A>T (p.Asn260Ile) rs1299041306
NM_001368067.1(LDB3):c.790T>A (p.Phe264Ile)
NM_001368067.1(LDB3):c.802C>G (p.Arg268Gly) rs121908335
NM_001368067.1(LDB3):c.810G>A (p.Trp270Ter) rs1428065968
NM_001368067.1(LDB3):c.829C>A (p.Gln277Lys)
NM_001368067.1(LDB3):c.830A>C (p.Gln277Pro) rs1589656313
NM_001368067.1(LDB3):c.841G>A (p.Val281Ile) rs1846156698
NM_001368067.1(LDB3):c.847del (p.Ser283fs)
NM_001368067.1(LDB3):c.848G>A (p.Ser283Asn)
NM_001377299.1(NDUFS2):c.*108_*109dup rs886045468
NM_001377299.1(NDUFS2):c.*187G>A rs886045469
NM_001377299.1(NDUFS2):c.*71_*76delinsTGCGTCTGTGTGTG rs886045465
NM_001377299.1(NDUFS2):c.*78GT[14] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[16] rs10629771
NM_001377299.1(NDUFS2):c.*78GT[18] rs10629771
NM_001377299.1(NDUFS2):c.1213-9del rs750838845
NM_001377299.1(NDUFS2):c.495_496del (p.Arg166fs) rs1558084765
NM_001377299.1(NDUFS2):c.628-17del rs775653766
NM_001377299.1(NDUFS2):c.702+14_702+17dup rs776704187
NM_001377299.1(NDUFS2):c.703-11T>G rs770054202
NM_001377299.1(NDUFS2):c.867T>C (p.Ser289=) rs886045461
NM_001377299.1(NDUFS2):c.903C>T (p.Asp301=) rs886045462
NM_001377299.1(NDUFS2):c.98G>A (p.Gly33Asp) rs886045459
NM_001378030.1(CCDC78):c.1003G>C (p.Glu335Gln)
NM_001378030.1(CCDC78):c.1012C>A (p.Pro338Thr) rs951170993
NM_001378030.1(CCDC78):c.1015G>A (p.Val339Met)
NM_001378030.1(CCDC78):c.1015G>T (p.Val339Leu) rs759037918
NM_001378030.1(CCDC78):c.101G>A (p.Gly34Glu) rs2040894714
NM_001378030.1(CCDC78):c.1033T>C (p.Phe345Leu) rs2040580658
NM_001378030.1(CCDC78):c.1037G>A (p.Ser346Asn)
NM_001378030.1(CCDC78):c.1042C>T (p.Arg348Trp)
NM_001378030.1(CCDC78):c.1043G>T (p.Arg348Leu) rs142170929
NM_001378030.1(CCDC78):c.1053+1G>A
NM_001378030.1(CCDC78):c.1053G>A (p.Gln351=)
NM_001378030.1(CCDC78):c.1066G>A (p.Gly356Arg)
NM_001378030.1(CCDC78):c.1067G>A (p.Gly356Glu) rs1567315670
NM_001378030.1(CCDC78):c.1070C>A (p.Ala357Glu)
NM_001378030.1(CCDC78):c.1070C>T (p.Ala357Val) rs767325446
NM_001378030.1(CCDC78):c.1075C>G (p.Leu359Val)
NM_001378030.1(CCDC78):c.1078T>C (p.Ser360Pro)
NM_001378030.1(CCDC78):c.107C>G (p.Thr36Ser) rs2040893951
NM_001378030.1(CCDC78):c.1081T>C (p.Ser361Pro)
NM_001378030.1(CCDC78):c.1090A>G (p.Lys364Glu)
NM_001378030.1(CCDC78):c.1099G>A (p.Gly367Ser) rs1021626011
NM_001378030.1(CCDC78):c.1102G>A (p.Gly368Arg)
NM_001378030.1(CCDC78):c.1113G>C (p.Gln371His)
NM_001378030.1(CCDC78):c.1114G>A (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1114G>C (p.Gly372Arg) rs780209156
NM_001378030.1(CCDC78):c.1120A>G (p.Thr374Ala)
NM_001378030.1(CCDC78):c.1133+3G>C
NM_001378030.1(CCDC78):c.1133+5G>C rs751889492
NM_001378030.1(CCDC78):c.1134-19C>T rs1320283995
NM_001378030.1(CCDC78):c.1144G>A (p.Ala382Thr)
NM_001378030.1(CCDC78):c.1174C>T (p.Leu392Phe)
NM_001378030.1(CCDC78):c.1178G>C (p.Arg393Pro) rs376513788
NM_001378030.1(CCDC78):c.1180G>A (p.Asp394Asn)
NM_001378030.1(CCDC78):c.1181A>G (p.Asp394Gly)
NM_001378030.1(CCDC78):c.1184T>C (p.Phe395Ser)
NM_001378030.1(CCDC78):c.1187C>G (p.Ser396Cys)
NM_001378030.1(CCDC78):c.1190G>C (p.Arg397Pro)
NM_001378030.1(CCDC78):c.1200+14_1200+18del
NM_001378030.1(CCDC78):c.1235T>G (p.Val412Gly)
NM_001378030.1(CCDC78):c.1277A>C (p.Glu426Ala) rs761180576
NM_001378030.1(CCDC78):c.1278_1286del (p.Glu426_Val428del)
NM_001378030.1(CCDC78):c.1287C>T (p.Asp429=) rs1403494570
NM_001378030.1(CCDC78):c.1292A>G (p.His431Arg)
NM_001378030.1(CCDC78):c.1298G>A (p.Gly433Asp)
NM_001378030.1(CCDC78):c.1301+2T>C
NM_001378030.1(CCDC78):c.1302-2_1302-1insC
NM_001378030.1(CCDC78):c.1307A>G (p.Lys436Arg)
NM_001378030.1(CCDC78):c.1308G>A (p.Lys436=)
NM_001378030.1(CCDC78):c.1311C>G (p.His437Gln)
NM_001378030.1(CCDC78):c.1311C>T (p.His437=) rs775569629
NM_001378030.1(CCDC78):c.1319T>C (p.Leu440Pro)
NM_001378030.1(CCDC78):c.139G>A (p.Val47Ile) rs892740041
NM_001378030.1(CCDC78):c.13G>C (p.Ala5Pro)
NM_001378030.1(CCDC78):c.14C>T (p.Ala5Val) rs2151579428
NM_001378030.1(CCDC78):c.15dup (p.Thr6fs) rs1389255956
NM_001378030.1(CCDC78):c.178C>G (p.Gln60Glu)
NM_001378030.1(CCDC78):c.180+3G>T rs1483977509
NM_001378030.1(CCDC78):c.191_194dup (p.Val66fs) rs2040863479
NM_001378030.1(CCDC78):c.197T>G (p.Val66Gly)
NM_001378030.1(CCDC78):c.199G>A (p.Asp67Asn) rs374105211
NM_001378030.1(CCDC78):c.20C>T (p.Thr7Ile)
NM_001378030.1(CCDC78):c.220C>T (p.His74Tyr) rs1248260858
NM_001378030.1(CCDC78):c.224T>C (p.Leu75Pro)
NM_001378030.1(CCDC78):c.229G>A (p.Glu77Lys)
NM_001378030.1(CCDC78):c.252C>G (p.Phe84Leu) rs766553371
NM_001378030.1(CCDC78):c.253C>T (p.Gln85Ter)
NM_001378030.1(CCDC78):c.259A>G (p.Lys87Glu)
NM_001378030.1(CCDC78):c.265G>A (p.Glu89Lys)
NM_001378030.1(CCDC78):c.267+1G>A
NM_001378030.1(CCDC78):c.267+1G>C
NM_001378030.1(CCDC78):c.267G>A (p.Glu89=) rs1246932109
NM_001378030.1(CCDC78):c.268-2_272del
NM_001378030.1(CCDC78):c.26C>T (p.Pro9Leu) rs1432188387
NM_001378030.1(CCDC78):c.275G>A (p.Arg92Gln) rs766279961
NM_001378030.1(CCDC78):c.283A>G (p.Ser95Gly)
NM_001378030.1(CCDC78):c.285C>G (p.Ser95Arg)
NM_001378030.1(CCDC78):c.287G>A (p.Arg96Gln)
NM_001378030.1(CCDC78):c.295GAGCTG[3] (p.Leu102_Arg103insGluLeu)
NM_001378030.1(CCDC78):c.310G>T (p.Gly104Ter)
NM_001378030.1(CCDC78):c.325C>T (p.Gln109Ter) rs1042253618
NM_001378030.1(CCDC78):c.328G>A (p.Gly110Ser)
NM_001378030.1(CCDC78):c.329G>A (p.Gly110Asp)
NM_001378030.1(CCDC78):c.329G>T (p.Gly110Val) rs369153172
NM_001378030.1(CCDC78):c.341C>G (p.Pro114Arg) rs749051279
NM_001378030.1(CCDC78):c.356C>A (p.Pro119His) rs750379614
NM_001378030.1(CCDC78):c.356C>G (p.Pro119Arg) rs750379614
NM_001378030.1(CCDC78):c.371C>A (p.Ala124Glu)
NM_001378030.1(CCDC78):c.377C>T (p.Ala126Val)
NM_001378030.1(CCDC78):c.379C>G (p.Gln127Glu)
NM_001378030.1(CCDC78):c.385C>A (p.Leu129Ile)
NM_001378030.1(CCDC78):c.400del (p.Gln134fs) rs758119082
NM_001378030.1(CCDC78):c.402G>A (p.Gln134=)
NM_001378030.1(CCDC78):c.406C>T (p.Pro136Ser)
NM_001378030.1(CCDC78):c.416C>T (p.Ser139Phe) rs374382609
NM_001378030.1(CCDC78):c.426_427del (p.His142fs)
NM_001378030.1(CCDC78):c.436-7C>G rs1567323012
NM_001378030.1(CCDC78):c.439C>T (p.Gln147Ter)
NM_001378030.1(CCDC78):c.452C>T (p.Thr151Ile)
NM_001378030.1(CCDC78):c.463G>A (p.Glu155Lys) rs369344548
NM_001378030.1(CCDC78):c.467A>G (p.Asn156Ser) rs2151564305
NM_001378030.1(CCDC78):c.46C>G (p.Arg16Gly) rs746792512
NM_001378030.1(CCDC78):c.46C>T (p.Arg16Trp) rs746792512
NM_001378030.1(CCDC78):c.477C>G (p.His159Gln)
NM_001378030.1(CCDC78):c.477C>T (p.His159=)
NM_001378030.1(CCDC78):c.47G>C (p.Arg16Pro) rs117949611
NM_001378030.1(CCDC78):c.488del (p.Ser163fs)
NM_001378030.1(CCDC78):c.493C>T (p.Leu165=) rs1361254201
NM_001378030.1(CCDC78):c.499G>A (p.Gly167Arg) rs2040740740
NM_001378030.1(CCDC78):c.49C>G (p.Arg17Gly)
NM_001378030.1(CCDC78):c.502G>C (p.Glu168Gln) rs777794522
NM_001378030.1(CCDC78):c.508_512del (p.Lys170fs) rs1466789176
NM_001378030.1(CCDC78):c.509A>G (p.Lys170Arg) rs1555486210
NM_001378030.1(CCDC78):c.50G>A (p.Arg17Gln) rs1046402338
NM_001378030.1(CCDC78):c.50G>C (p.Arg17Pro)
NM_001378030.1(CCDC78):c.50G>T (p.Arg17Leu) rs1046402338
NM_001378030.1(CCDC78):c.515C>T (p.Ala172Val)
NM_001378030.1(CCDC78):c.517C>G (p.Leu173Val)
NM_001378030.1(CCDC78):c.523C>G (p.His175Asp)
NM_001378030.1(CCDC78):c.545C>T (p.Ala182Val) rs1000549010
NM_001378030.1(CCDC78):c.548T>C (p.Leu183Pro)
NM_001378030.1(CCDC78):c.548_549delinsGA (p.Leu183Arg) rs2151561882
NM_001378030.1(CCDC78):c.553_554delinsTA (p.Thr185Ter)
NM_001378030.1(CCDC78):c.560_560+3del
NM_001378030.1(CCDC78):c.571_582del (p.Gly191_Leu194del) rs1035417733
NM_001378030.1(CCDC78):c.592C>T (p.Arg198Ter)
NM_001378030.1(CCDC78):c.598G>A (p.Glu200Lys) rs1031306587
NM_001378030.1(CCDC78):c.60+2T>C rs1289274795
NM_001378030.1(CCDC78):c.60+3G>A
NM_001378030.1(CCDC78):c.604A>G (p.Arg202Gly)
NM_001378030.1(CCDC78):c.61-13G>A
NM_001378030.1(CCDC78):c.61-16G>A
NM_001378030.1(CCDC78):c.61-2A>G
NM_001378030.1(CCDC78):c.61-6C>A
NM_001378030.1(CCDC78):c.611C>A (p.Ala204Asp) rs2040706093
NM_001378030.1(CCDC78):c.616C>T (p.Gln206Ter)
NM_001378030.1(CCDC78):c.619C>T (p.Arg207Ter)
NM_001378030.1(CCDC78):c.620G>C (p.Arg207Pro)
NM_001378030.1(CCDC78):c.639+4A>G
NM_001378030.1(CCDC78):c.667C>T (p.Arg223Cys)
NM_001378030.1(CCDC78):c.668G>T (p.Arg223Leu)
NM_001378030.1(CCDC78):c.671A>G (p.Gln224Arg)
NM_001378030.1(CCDC78):c.679G>T (p.Ala227Ser)
NM_001378030.1(CCDC78):c.680C>T (p.Ala227Val)
NM_001378030.1(CCDC78):c.688G>A (p.Ala230Thr)
NM_001378030.1(CCDC78):c.691C>G (p.Arg231Gly) rs527479144
NM_001378030.1(CCDC78):c.691C>T (p.Arg231Trp)
NM_001378030.1(CCDC78):c.692G>T (p.Arg231Leu) rs147504073
NM_001378030.1(CCDC78):c.703_708dup (p.233QL[3]) rs1392358219
NM_001378030.1(CCDC78):c.71G>A (p.Arg24Gln)
NM_001378030.1(CCDC78):c.736C>T (p.Arg246Trp) rs749095737
NM_001378030.1(CCDC78):c.73G>A (p.Ala25Thr)
NM_001378030.1(CCDC78):c.752C>A (p.Ala251Asp)
NM_001378030.1(CCDC78):c.758A>G (p.Gln253Arg) rs1438721597
NM_001378030.1(CCDC78):c.769C>T (p.His257Tyr) rs1160240030
NM_001378030.1(CCDC78):c.771C>G (p.His257Gln) rs747763912
NM_001378030.1(CCDC78):c.778G>A (p.Gly260Ser)
NM_001378030.1(CCDC78):c.782C>G (p.Ala261Gly) rs1328091861
NM_001378030.1(CCDC78):c.791C>T (p.Ala264Val)
NM_001378030.1(CCDC78):c.805del (p.Ala269fs)
NM_001378030.1(CCDC78):c.80A>G (p.Asp27Gly) rs2040895994
NM_001378030.1(CCDC78):c.838G>A (p.Asp280Asn)
NM_001378030.1(CCDC78):c.844C>G (p.Arg282Gly) rs747752625
NM_001378030.1(CCDC78):c.860G>A (p.Ser287Asn)
NM_001378030.1(CCDC78):c.860G>C (p.Ser287Thr) rs1688583528
NM_001378030.1(CCDC78):c.862C>A (p.Arg288Ser)
NM_001378030.1(CCDC78):c.886G>T (p.Ala296Ser)
NM_001378030.1(CCDC78):c.893G>C (p.Ser298Thr) rs770130604
NM_001378030.1(CCDC78):c.897C>A (p.Tyr299Ter) rs1203607617
NM_001378030.1(CCDC78):c.898_900del (p.His300del) rs771582682
NM_001378030.1(CCDC78):c.902A>G (p.Lys301Arg) rs2040618422
NM_001378030.1(CCDC78):c.913G>T (p.Asp305Tyr)
NM_001378030.1(CCDC78):c.922_923delinsGA (p.Arg308Asp)
NM_001378030.1(CCDC78):c.929A>G (p.His310Arg) rs2040614811
NM_001378030.1(CCDC78):c.947C>T (p.Ala316Val) rs2151553309
NM_001378030.1(CCDC78):c.94G>A (p.Ala32Thr)
NM_001378030.1(CCDC78):c.953+1G>A
NM_001378030.1(CCDC78):c.953+3G>A rs2040612115
NM_001378030.1(CCDC78):c.953+4G>A
NM_001378030.1(CCDC78):c.953+6C>T
NM_001378030.1(CCDC78):c.954G>A (p.Arg318=) rs2040592459
NM_001378030.1(CCDC78):c.955_956delinsAA (p.Ala319Lys) rs2040592043
NM_001378030.1(CCDC78):c.958C>T (p.Pro320Ser)
NM_001378030.1(CCDC78):c.959C>T (p.Pro320Leu)
NM_001378030.1(CCDC78):c.986T>C (p.Ile329Thr)
NM_001378030.1(CCDC78):c.991A>G (p.Ser331Gly)
NM_001378030.1(CCDC78):c.999C>G (p.Asp333Glu) rs1450643801
NM_001382567.1(STIM1):c.100A>T (p.Thr34Ser) rs1565091023
NM_001382567.1(STIM1):c.1010C>G (p.Ser337Cys) rs1038392859
NM_001382567.1(STIM1):c.101C>G (p.Thr34Ser)
NM_001382567.1(STIM1):c.101C>T (p.Thr34Ile) rs771348972
NM_001382567.1(STIM1):c.1031C>T (p.Pro344Leu) rs2094469076
NM_001382567.1(STIM1):c.1036G>A (p.Ala346Thr)
NM_001382567.1(STIM1):c.1063C>G (p.His355Asp)
NM_001382567.1(STIM1):c.1063C>T (p.His355Tyr) rs2094469160
NM_001382567.1(STIM1):c.1069G>T (p.Val357Leu) rs918568638
NM_001382567.1(STIM1):c.1079_1080delinsGG (p.Gln360Arg) rs2094469326
NM_001382567.1(STIM1):c.107C>G (p.Ser36Trp)
NM_001382567.1(STIM1):c.1092C>G (p.Ile364Met)
NM_001382567.1(STIM1):c.1123G>C (p.Val375Leu)
NM_001382567.1(STIM1):c.112G>A (p.Ala38Thr)
NM_001382567.1(STIM1):c.1135G>C (p.Gly379Arg) rs201447973
NM_001382567.1(STIM1):c.1138G>A (p.Ala380Thr)
NM_001382567.1(STIM1):c.1148T>C (p.Ile383Thr)
NM_001382567.1(STIM1):c.116A>G (p.Asn39Ser) rs2135171193
NM_001382567.1(STIM1):c.1180T>C (p.Phe394Leu) rs771694025
NM_001382567.1(STIM1):c.1184A>G (p.His395Arg) rs1565170778
NM_001382567.1(STIM1):c.118T>A (p.Ser40Thr)
NM_001382567.1(STIM1):c.1196G>A (p.Ser399Asn) rs2094473055
NM_001382567.1(STIM1):c.1213G>A (p.Val405Ile)
NM_001382567.1(STIM1):c.1232C>G (p.Thr411Arg)
NM_001382567.1(STIM1):c.1239G>A (p.Lys413=)
NM_001382567.1(STIM1):c.124G>A (p.Glu42Lys) rs2135171279
NM_001382567.1(STIM1):c.1250G>A (p.Ser417Asn) rs1025014749
NM_001382567.1(STIM1):c.1271G>A (p.Arg424Gln)
NM_001382567.1(STIM1):c.1276C>T (p.Arg426Cys) rs1057519505
NM_001382567.1(STIM1):c.127T>C (p.Ser43Pro) rs947448351
NM_001382567.1(STIM1):c.1282C>T (p.His428Tyr)
NM_001382567.1(STIM1):c.1284C>A (p.His428Gln)
NM_001382567.1(STIM1):c.1296G>T (p.Gln432His) rs2133226066
NM_001382567.1(STIM1):c.1300G>A (p.Glu434Lys)
NM_001382567.1(STIM1):c.1334C>T (p.Pro445Leu) rs925534511
NM_001382567.1(STIM1):c.1342C>T (p.His448Tyr)
NM_001382567.1(STIM1):c.1344C>G (p.His448Gln)
NM_001382567.1(STIM1):c.134C>G (p.Ala45Gly)
NM_001382567.1(STIM1):c.1357G>T (p.Ala453Ser)
NM_001382567.1(STIM1):c.1367T>C (p.Ile456Thr) rs371655991
NM_001382567.1(STIM1):c.1371C>A (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1371C>G (p.Asp457Glu) rs777537168
NM_001382567.1(STIM1):c.1373C>G (p.Pro458Arg)
NM_001382567.1(STIM1):c.1377C>G (p.Ser459Arg) rs1565171050
NM_001382567.1(STIM1):c.1378T>G (p.Trp460Gly) rs2094475504
NM_001382567.1(STIM1):c.139+4A>G rs755753617
NM_001382567.1(STIM1):c.1396C>T (p.Pro466Ser) rs2133226679
NM_001382567.1(STIM1):c.13G>A (p.Val5Ile) rs150529970
NM_001382567.1(STIM1):c.1400A>G (p.Asn467Ser)
NM_001382567.1(STIM1):c.1412T>A (p.Phe471Tyr)
NM_001382567.1(STIM1):c.1434T>G (p.Asp478Glu)
NM_001382567.1(STIM1):c.1436A>G (p.Asp479Gly)
NM_001382567.1(STIM1):c.143T>A (p.Phe48Tyr)
NM_001382567.1(STIM1):c.1453G>A (p.Val485Met)
NM_001382567.1(STIM1):c.1457C>T (p.Ser486Phe) rs2133227042
NM_001382567.1(STIM1):c.1459C>G (p.Pro487Ala)
NM_001382567.1(STIM1):c.1459C>T (p.Pro487Ser) rs2094476134
NM_001382567.1(STIM1):c.146G>A (p.Cys49Tyr) rs1590608659
NM_001382567.1(STIM1):c.1474+16_1474+17delinsTG
NM_001382567.1(STIM1):c.1474+17_1474+18delinsGT
NM_001382567.1(STIM1):c.1580A>G (p.Gln527Arg)
NM_001382567.1(STIM1):c.1583G>A (p.Ser528Asn)
NM_001382567.1(STIM1):c.1586G>C (p.Ser529Thr)
NM_001382567.1(STIM1):c.1592G>A (p.Arg531Gln)
NM_001382567.1(STIM1):c.1594C>A (p.Gln532Lys) rs753214223
NM_001382567.1(STIM1):c.1594C>T (p.Gln532Ter)
NM_001382567.1(STIM1):c.1598G>A (p.Arg533His) rs555016539
NM_001382567.1(STIM1):c.1601T>C (p.Leu534Pro) rs1565172165
NM_001382567.1(STIM1):c.1609C>G (p.Pro537Ala) rs1228842060
NM_001382567.1(STIM1):c.1609C>T (p.Pro537Ser)
NM_001382567.1(STIM1):c.160C>A (p.Pro54Thr)
NM_001382567.1(STIM1):c.1612C>G (p.Gln538Glu) rs2133240605
NM_001382567.1(STIM1):c.1613A>G (p.Gln538Arg)
NM_001382567.1(STIM1):c.1628C>T (p.Ser543Phe)
NM_001382567.1(STIM1):c.1632G>C (p.Gln544His) rs2094494375
NM_001382567.1(STIM1):c.1634+1G>A
NM_001382567.1(STIM1):c.1634+1G>T rs1427379864
NM_001382567.1(STIM1):c.1642A>G (p.Thr548Ala)
NM_001382567.1(STIM1):c.1646A>C (p.His549Pro) rs751432488
NM_001382567.1(STIM1):c.1649C>A (p.Ser550Tyr) rs1590703131
NM_001382567.1(STIM1):c.1673T>A (p.Met558Lys)
NM_001382567.1(STIM1):c.1675A>G (p.Ser559Gly) rs2094523397
NM_001382567.1(STIM1):c.1688G>C (p.Arg563Pro) rs771442242
NM_001382567.1(STIM1):c.1694C>T (p.Ala565Val) rs1382628661
NM_001382567.1(STIM1):c.1703C>G (p.Pro568Arg)
NM_001382567.1(STIM1):c.1703CTC[1] (p.Pro569del) rs754674804
NM_001382567.1(STIM1):c.1717C>A (p.Arg573Ser)
NM_001382567.1(STIM1):c.1717C>T (p.Arg573Cys) rs370846246
NM_001382567.1(STIM1):c.1721C>T (p.Ala574Val)
NM_001382567.1(STIM1):c.1735C>T (p.Leu579Phe)
NM_001382567.1(STIM1):c.1738A>G (p.Asn580Asp) rs755851829
NM_001382567.1(STIM1):c.1741G>A (p.Ala581Thr)
NM_001382567.1(STIM1):c.1744A>G (p.Met582Val)
NM_001382567.1(STIM1):c.1745T>C (p.Met582Thr)
NM_001382567.1(STIM1):c.1751C>T (p.Ser584Phe)
NM_001382567.1(STIM1):c.1757G>T (p.Gly586Val) rs200525396
NM_001382567.1(STIM1):c.175G>C (p.Glu59Gln)
NM_001382567.1(STIM1):c.1762C>A (p.His588Asn)
NM_001382567.1(STIM1):c.1775A>G (p.Glu592Gly) rs2133264174
NM_001382567.1(STIM1):c.1777G>C (p.Gly593Arg)
NM_001382567.1(STIM1):c.1781T>G (p.Val594Gly)
NM_001382567.1(STIM1):c.1783C>T (p.His595Tyr)
NM_001382567.1(STIM1):c.1786C>T (p.Pro596Ser)
NM_001382567.1(STIM1):c.1790G>A (p.Gly597Glu)
NM_001382567.1(STIM1):c.1793C>A (p.Ser598Tyr) rs201520428
NM_001382567.1(STIM1):c.1798G>T (p.Val600Leu) rs527880533
NM_001382567.1(STIM1):c.1805A>G (p.Lys602Arg) rs1554972161
NM_001382567.1(STIM1):c.1818C>A (p.Ser606Arg)
NM_001382567.1(STIM1):c.1818_1819delinsTA (p.Pro607Thr)
NM_001382567.1(STIM1):c.1820C>T (p.Pro607Leu) rs2094524774
NM_001382567.1(STIM1):c.1822G>T (p.Ala608Ser)
NM_001382567.1(STIM1):c.1837G>A (p.Ala613Thr) rs2133264567
NM_001382567.1(STIM1):c.1838C>T (p.Ala613Val) rs1590703419
NM_001382567.1(STIM1):c.1846G>A (p.Ala616Thr)
NM_001382567.1(STIM1):c.1850T>C (p.Leu617Pro)
NM_001382567.1(STIM1):c.1855C>A (p.His619Asn)
NM_001382567.1(STIM1):c.1855C>T (p.His619Tyr)
NM_001382567.1(STIM1):c.1859G>C (p.Gly620Ala) rs2094525006
NM_001382567.1(STIM1):c.1870G>T (p.Ala624Ser)
NM_001382567.1(STIM1):c.1882A>G (p.Met628Val)
NM_001382567.1(STIM1):c.1883T>C (p.Met628Thr)
NM_001382567.1(STIM1):c.1885G>A (p.Glu629Lys) rs2094525182
NM_001382567.1(STIM1):c.1887G>C (p.Glu629Asp) rs199874116
NM_001382567.1(STIM1):c.1895C>T (p.Pro632Leu)
NM_001382567.1(STIM1):c.1900G>T (p.Ala634Ser)
NM_001382567.1(STIM1):c.1909G>C (p.Gly637Arg) rs771983048
NM_001382567.1(STIM1):c.1913G>C (p.Gly638Ala)
NM_001382567.1(STIM1):c.1931C>T (p.Ser644Phe)
NM_001382567.1(STIM1):c.1943A>T (p.His648Leu) rs2133265240
NM_001382567.1(STIM1):c.1947C>A (p.Ser649Arg)
NM_001382567.1(STIM1):c.1969A>G (p.Thr657Ala) rs2094525733
NM_001382567.1(STIM1):c.1970C>T (p.Thr657Ile)
NM_001382567.1(STIM1):c.1981G>C (p.Val661Leu) rs1590703566
NM_001382567.1(STIM1):c.1982T>C (p.Val661Ala)
NM_001382567.1(STIM1):c.1991G>A (p.Ser664Asn)
NM_001382567.1(STIM1):c.1993C>T (p.Arg665Ter) rs756617504
NM_001382567.1(STIM1):c.1999C>A (p.Leu667Met) rs2094526007
NM_001382567.1(STIM1):c.199G>A (p.Ala67Thr)
NM_001382567.1(STIM1):c.2012G>T (p.Arg671Leu) rs769001716
NM_001382567.1(STIM1):c.2020C>T (p.Arg674Cys) rs779108452
NM_001382567.1(STIM1):c.2024T>C (p.Ile675Thr) rs2133265767
NM_001382567.1(STIM1):c.2035G>A (p.Ala679Thr) rs1447309539
NM_001382567.1(STIM1):c.2042A>G (p.Lys681Arg)
NM_001382567.1(STIM1):c.2047G>T (p.Ala683Ser) rs201992816
NM_001382567.1(STIM1):c.2054C>T (p.Ala685Val) rs1590703662
NM_001382567.1(STIM1):c.2058GGA[1] (p.Glu687del)
NM_001382567.1(STIM1):c.2062G>C (p.Asp688His)
NM_001382567.1(STIM1):c.2063A>C (p.Asp688Ala)
NM_001382567.1(STIM1):c.2065A>G (p.Asn689Asp)
NM_001382567.1(STIM1):c.2068G>A (p.Gly690Ser)
NM_001382567.1(STIM1):c.2069G>A (p.Gly690Asp)
NM_001382567.1(STIM1):c.206G>A (p.Arg69His)
NM_001382567.1(STIM1):c.2074A>G (p.Ile692Val)
NM_001382567.1(STIM1):c.2074A>T (p.Ile692Phe)
NM_001382567.1(STIM1):c.2075T>C (p.Ile692Thr)
NM_001382567.1(STIM1):c.2080G>A (p.Glu694Lys)
NM_001382567.1(STIM1):c.2086A>G (p.Thr696Ala)
NM_001382567.1(STIM1):c.2092T>C (p.Ser698Pro)
NM_001382567.1(STIM1):c.2092T>G (p.Ser698Ala)
NM_001382567.1(STIM1):c.2098C>T (p.Pro700Ser)
NM_001382567.1(STIM1):c.20T>C (p.Leu7Pro)
NM_001382567.1(STIM1):c.2105G>A (p.Arg702Gln) rs779204802
NM_001382567.1(STIM1):c.2108A>G (p.Lys703Arg)
NM_001382567.1(STIM1):c.2109G>T (p.Lys703Asn)
NM_001382567.1(STIM1):c.2123A>G (p.Lys708Arg) rs2133266402
NM_001382567.1(STIM1):c.2131AAG[1] (p.Lys712del) rs2094526893
NM_001382567.1(STIM1):c.2143AAG[1] (p.Lys716del)
NM_001382567.1(STIM1):c.2149T>C (p.Ter717Gln)
NM_001382567.1(STIM1):c.218A>G (p.Lys73Arg)
NM_001382567.1(STIM1):c.250G>A (p.Asp84Asn)
NM_001382567.1(STIM1):c.267T>A (p.Asp89Glu)
NM_001382567.1(STIM1):c.270+5G>T
NM_001382567.1(STIM1):c.270G>C (p.Glu90Asp)
NM_001382567.1(STIM1):c.271-14C>G rs2136018670
NM_001382567.1(STIM1):c.271-3C>T rs561797617
NM_001382567.1(STIM1):c.272T>A (p.Phe91Tyr)
NM_001382567.1(STIM1):c.295C>G (p.His99Asp) rs1440304974
NM_001382567.1(STIM1):c.296A>G (p.His99Arg)
NM_001382567.1(STIM1):c.301C>G (p.Pro101Ala) rs2136018813
NM_001382567.1(STIM1):c.304A>G (p.Thr102Ala) rs2093978275
NM_001382567.1(STIM1):c.313C>A (p.His105Asn)
NM_001382567.1(STIM1):c.313C>G (p.His105Asp)
NM_001382567.1(STIM1):c.314A>C (p.His105Pro)
NM_001382567.1(STIM1):c.317G>A (p.Ser106Asn)
NM_001382567.1(STIM1):c.31CTC[3] (p.Leu12_Trp13insLeu)
NM_001382567.1(STIM1):c.349G>T (p.Val117Leu)
NM_001382567.1(STIM1):c.350T>A (p.Val117Glu)
NM_001382567.1(STIM1):c.383A>T (p.Glu128Val) rs2136019150
NM_001382567.1(STIM1):c.388T>C (p.Tyr130His)
NM_001382567.1(STIM1):c.398C>T (p.Thr133Ile) rs1590678408
NM_001382567.1(STIM1):c.406G>A (p.Glu136Lys) rs1590678420
NM_001382567.1(STIM1):c.409G>A (p.Val137Met)
NM_001382567.1(STIM1):c.425T>C (p.Ile142Thr)
NM_001382567.1(STIM1):c.45CCT[1] (p.Leu17del)
NM_001382567.1(STIM1):c.464G>A (p.Arg155Gln) rs771484089
NM_001382567.1(STIM1):c.464G>T (p.Arg155Leu)
NM_001382567.1(STIM1):c.46C>T (p.Leu16Phe)
NM_001382567.1(STIM1):c.473A>C (p.Gln158Pro) rs899854132
NM_001382567.1(STIM1):c.482G>A (p.Gly161Asp) rs2133084204
NM_001382567.1(STIM1):c.485A>G (p.His162Arg)
NM_001382567.1(STIM1):c.490A>G (p.Met164Val) rs776121110
NM_001382567.1(STIM1):c.498G>A (p.Arg166=)
NM_001382567.1(STIM1):c.4G>A (p.Asp2Asn) rs2090364498
NM_001382567.1(STIM1):c.50T>C (p.Leu17Pro)
NM_001382567.1(STIM1):c.50T>G (p.Leu17Arg) rs2090367397
NM_001382567.1(STIM1):c.515C>T (p.Thr172Ile) rs200912784
NM_001382567.1(STIM1):c.518C>T (p.Thr173Ile)
NM_001382567.1(STIM1):c.524C>G (p.Thr175Arg)
NM_001382567.1(STIM1):c.527G>C (p.Gly176Ala)
NM_001382567.1(STIM1):c.530C>T (p.Thr177Ile)
NM_001382567.1(STIM1):c.532G>T (p.Val178Leu) rs1351131329
NM_001382567.1(STIM1):c.541A>G (p.Met181Val) rs2094314118
NM_001382567.1(STIM1):c.545C>A (p.Thr182Lys)
NM_001382567.1(STIM1):c.550C>T (p.Arg184Trp) rs368391164
NM_001382567.1(STIM1):c.560G>A (p.Arg187Gln)
NM_001382567.1(STIM1):c.57G>C (p.Gln19His) rs1554949765
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser) rs2135170451
NM_001382567.1(STIM1):c.610C>T (p.Leu204Phe) rs1375399301
NM_001382567.1(STIM1):c.612C>T (p.Leu204=) rs2094314742
NM_001382567.1(STIM1):c.614T>C (p.Leu205Ser) rs2133161173
NM_001382567.1(STIM1):c.620G>A (p.Arg207His)
NM_001382567.1(STIM1):c.622C>T (p.His208Tyr) rs2133161238
NM_001382567.1(STIM1):c.623A>G (p.His208Arg) rs2094394104
NM_001382567.1(STIM1):c.630C>G (p.His210Gln)
NM_001382567.1(STIM1):c.642C>G (p.Phe214Leu)
NM_001382567.1(STIM1):c.64A>G (p.Ser22Gly)
NM_001382567.1(STIM1):c.658A>G (p.Ile220Val) rs2094394322
NM_001382567.1(STIM1):c.661G>A (p.Val221Ile)
NM_001382567.1(STIM1):c.673G>T (p.Gly225Cys)
NM_001382567.1(STIM1):c.67C>T (p.Leu23Phe)
NM_001382567.1(STIM1):c.684G>T (p.Trp228Cys)
NM_001382567.1(STIM1):c.68T>A (p.Leu23His)
NM_001382567.1(STIM1):c.692A>G (p.Tyr231Cys) rs765230033
NM_001382567.1(STIM1):c.692A>T (p.Tyr231Phe)
NM_001382567.1(STIM1):c.703C>G (p.Arg235Gly)
NM_001382567.1(STIM1):c.710C>T (p.Ser237Phe) rs751364519
NM_001382567.1(STIM1):c.718C>T (p.His240Tyr)
NM_001382567.1(STIM1):c.722T>C (p.Met241Thr) rs1057013806
NM_001382567.1(STIM1):c.723G>A (p.Met241Ile)
NM_001382567.1(STIM1):c.725AGA[1] (p.Lys243del) rs1424195254
NM_001382567.1(STIM1):c.731TGA[1] (p.Met245del) rs2094394895
NM_001382567.1(STIM1):c.733A>C (p.Met245Leu) rs755714206
NM_001382567.1(STIM1):c.738G>C (p.Lys246Asn) rs536528954
NM_001382567.1(STIM1):c.746A>G (p.Glu249Gly)
NM_001382567.1(STIM1):c.747G>T (p.Glu249Asp)
NM_001382567.1(STIM1):c.752T>C (p.Leu251Ser) rs2094395092
NM_001382567.1(STIM1):c.764A>G (p.Glu255Gly)
NM_001382567.1(STIM1):c.769A>G (p.Ser257Gly)
NM_001382567.1(STIM1):c.76A>G (p.Ser26Gly)
NM_001382567.1(STIM1):c.776A>G (p.His259Arg) rs1359363776
NM_001382567.1(STIM1):c.792-3C>A rs201348785
NM_001382567.1(STIM1):c.792-3C>G rs201348785
NM_001382567.1(STIM1):c.792-3C>T
NM_001382567.1(STIM1):c.792-3del rs764247879
NM_001382567.1(STIM1):c.792-5C>G
NM_001382567.1(STIM1):c.796C>T (p.His266Tyr) rs2133185569
NM_001382567.1(STIM1):c.79C>G (p.His27Asp)
NM_001382567.1(STIM1):c.7G>A (p.Val3Ile) rs1060499904
NM_001382567.1(STIM1):c.803C>T (p.Ala268Val) rs2094425773
NM_001382567.1(STIM1):c.81C>A (p.His27Gln) rs1393963653
NM_001382567.1(STIM1):c.835A>G (p.Lys279Glu)
NM_001382567.1(STIM1):c.859C>A (p.Arg287Ser) rs1034949340
NM_001382567.1(STIM1):c.859C>T (p.Arg287Cys) rs1034949340
NM_001382567.1(STIM1):c.860G>A (p.Arg287His) rs1565168009
NM_001382567.1(STIM1):c.863A>C (p.Asp288Ala) rs900508637
NM_001382567.1(STIM1):c.872A>C (p.Asn291Thr) rs138848040
NM_001382567.1(STIM1):c.877G>A (p.Ala293Thr)
NM_001382567.1(STIM1):c.902A>G (p.Lys301Arg)
NM_001382567.1(STIM1):c.919A>G (p.Thr307Ala)
NM_001382567.1(STIM1):c.92C>T (p.Ala31Val)
NM_001382567.1(STIM1):c.932G>A (p.Arg311Gln)
NM_001382567.1(STIM1):c.938G>A (p.Arg313His) rs776331076
NM_001382567.1(STIM1):c.952GAG[2] (p.Glu320del) rs2133186642
NM_001382567.1(STIM1):c.961T>A (p.Leu321Met)
NM_001382567.1(STIM1):c.970G>A (p.Val324Ile)
NM_001382567.1(STIM1):c.974G>A (p.Arg325Gln)
NM_001382567.1(STIM1):c.974G>T (p.Arg325Leu) rs746960459
NM_001382567.1(STIM1):c.979G>A (p.Ala327Thr)
NM_001382567.1(STIM1):c.979G>C (p.Ala327Pro)
NM_001382567.1(STIM1):c.98G>A (p.Gly33Glu)
NM_001395058.1(MYO15B):c.2651+2T>A
NM_001395058.1(MYO15B):c.8109T>G (p.Asp2703Glu)
NM_001397406.1(FDX2):c.1A>T (p.Met1Leu) rs587777600
NM_001397406.1(FDX2):c.200+4A>G
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys) rs372497581
NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)
NM_001458.5(FLNC):c.1003A>G (p.Thr335Ala)
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys) rs748723761
NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)
NM_001458.5(FLNC):c.1012G>A (p.Val338Ile) rs2128934331
NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser) rs1554397631
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr) rs2128934341
NM_001458.5(FLNC):c.1043A>C (p.His348Pro)
NM_001458.5(FLNC):c.1043A>G (p.His348Arg)
NM_001458.5(FLNC):c.1047+3A>G
NM_001458.5(FLNC):c.1049T>C (p.Val350Ala)
NM_001458.5(FLNC):c.1062T>G (p.Phe354Leu)
NM_001458.5(FLNC):c.1064C>T (p.Ala355Val) rs1231559702
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser) rs1808183705
NM_001458.5(FLNC):c.1067G>A (p.Gly356Asp)
NM_001458.5(FLNC):c.1076T>C (p.Ile359Thr)
NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr) rs2128934398
NM_001458.5(FLNC):c.1087C>T (p.Pro363Ser)
NM_001458.5(FLNC):c.109A>G (p.Ile37Val)
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu) rs781718076
NM_001458.5(FLNC):c.1102G>T (p.Val368Leu)
NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala) rs754733061
NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)
NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)
NM_001458.5(FLNC):c.1120G>A (p.Asp374Asn)
NM_001458.5(FLNC):c.1127A>G (p.Asn376Ser)
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu) rs1035933787
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn) rs1396483415
NM_001458.5(FLNC):c.1132G>A (p.Val378Met)
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala) rs746992457
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu) rs1585147708
NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly) rs770692923
NM_001458.5(FLNC):c.114G>T (p.Gln38His)
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln) rs1204536261
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg) rs765434369
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu) rs1484540724
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp) rs1808189981
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn) rs2128934429
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr) rs1562992604
NM_001458.5(FLNC):c.11A>G (p.Asn4Ser)
NM_001458.5(FLNC):c.1207G>T (p.Ala403Ser)
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu) rs777199447
NM_001458.5(FLNC):c.1210+4G>A rs2128934436
NM_001458.5(FLNC):c.1210+5G>A rs770923888
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser) rs2128934484
NM_001458.5(FLNC):c.122C>T (p.Thr41Ile)
NM_001458.5(FLNC):c.1234G>C (p.Val412Leu)
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)
NM_001458.5(FLNC):c.1248C>A (p.Asp416Glu)
NM_001458.5(FLNC):c.1250C>A (p.Pro417Gln)
NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)
NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys) rs777706683
NM_001458.5(FLNC):c.1265A>G (p.Asp422Gly)
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro) rs1807852947
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val) rs1585154042
NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala) rs1031308521
NM_001458.5(FLNC):c.1295G>A (p.Gly432Asp)
NM_001458.5(FLNC):c.1295G>T (p.Gly432Val) rs750350780
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn) rs1585154054
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala) rs1808206478
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly) rs374847180
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys) rs2128932137
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu) rs1807853136
NM_001458.5(FLNC):c.1325C>A (p.Pro442His) rs1554397822
NM_001458.5(FLNC):c.1331T>C (p.Met444Thr)
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile) rs1343786191
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)
NM_001458.5(FLNC):c.1352A>C (p.His451Pro) rs1808209347
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr) rs369747694
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg) rs1808210779
NM_001458.5(FLNC):c.1382G>A (p.Arg461His) rs377587489
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu) rs377587489
NM_001458.5(FLNC):c.1393C>T (p.Pro465Ser)
NM_001458.5(FLNC):c.1394C>T (p.Pro465Leu)
NM_001458.5(FLNC):c.139A>G (p.Asn47Asp)
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly) rs2128932075
NM_001458.5(FLNC):c.1402G>T (p.Val468Leu)
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)
NM_001458.5(FLNC):c.1412-3T>C
NM_001458.5(FLNC):c.1415G>A (p.Cys472Tyr)
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser) rs1562993431
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup) rs1807853629
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln) rs770337434
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp) rs1562993476
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg) rs1012536919
NM_001458.5(FLNC):c.1462G>A (p.Gly488Ser)
NM_001458.5(FLNC):c.1465G>A (p.Val489Ile)
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu) rs1046320257
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu) rs770264114
NM_001458.5(FLNC):c.147_148delinsTT (p.Leu50Phe)
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)
NM_001458.5(FLNC):c.1484C>T (p.Ala495Val)
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser) rs2128934879
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) rs794727967
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val) rs1483134760
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr) rs1562993551
NM_001458.5(FLNC):c.1514G>A (p.Gly505Asp)
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn) rs1554398094
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)
NM_001458.5(FLNC):c.1525C>T (p.Leu509Phe)
NM_001458.5(FLNC):c.1529A>T (p.Lys510Met)
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys) rs775538827
NM_001458.5(FLNC):c.1539_1540delinsTC (p.Lys514Gln)
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr) rs375881193
NM_001458.5(FLNC):c.1543G>A (p.Gly515Arg)
NM_001458.5(FLNC):c.1544G>A (p.Gly515Glu)
NM_001458.5(FLNC):c.1546C>T (p.Pro516Ser)
NM_001458.5(FLNC):c.1552G>A (p.Gly518Ser)
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala) rs1808287052
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)
NM_001458.5(FLNC):c.157G>T (p.Val53Leu)
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val) rs2128935018
NM_001458.5(FLNC):c.1588G>A (p.Asp530Asn)
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu) rs768072902
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln) rs201905890
NM_001458.5(FLNC):c.1603T>C (p.Cys535Arg)
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly) rs1808289781
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly) rs2128935033
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu) rs551472827
NM_001458.5(FLNC):c.161G>T (p.Gly54Val) rs1032152678
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu) rs1221769888
NM_001458.5(FLNC):c.1640T>C (p.Val547Ala)
NM_001458.5(FLNC):c.1646T>C (p.Ile549Thr)
NM_001458.5(FLNC):c.1649C>A (p.Thr550Lys)
NM_001458.5(FLNC):c.1651T>C (p.Trp551Arg)
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)
NM_001458.5(FLNC):c.1655G>T (p.Gly552Val)
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys) rs370326975
NM_001458.5(FLNC):c.1676+2dup rs2128935058
NM_001458.5(FLNC):c.1676+3G>A
NM_001458.5(FLNC):c.1677-3C>G
NM_001458.5(FLNC):c.1682T>C (p.Phe561Ser)
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala) rs774963796
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)
NM_001458.5(FLNC):c.1693G>T (p.Val565Leu)
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser) rs1284761356
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg) rs1284761356
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val) rs2128935115
NM_001458.5(FLNC):c.1709G>C (p.Gly570Ala)
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro) rs1585147774
NM_001458.5(FLNC):c.1711G>A (p.Val571Met) rs1194021325
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala) rs750817835
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp) rs761117952
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro) rs764751276
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr) rs1808303402
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile) rs2128935128
NM_001458.5(FLNC):c.1756G>T (p.Val586Leu)
NM_001458.5(FLNC):c.1774T>C (p.Phe592Leu)
NM_001458.5(FLNC):c.1778T>C (p.Val593Ala)
NM_001458.5(FLNC):c.1790T>C (p.Ile597Thr)
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln) rs1807855891
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)
NM_001458.5(FLNC):c.17G>A (p.Gly6Asp)
NM_001458.5(FLNC):c.1801G>A (p.Val601Met) rs762652248
NM_001458.5(FLNC):c.1810C>A (p.Leu604Met)
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser) rs1562994122
NM_001458.5(FLNC):c.1814-3C>G rs1162747854
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val) rs1808316775
NM_001458.5(FLNC):c.1822A>T (p.Ile608Phe)
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met) rs753007069
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln) rs758389160
NM_001458.5(FLNC):c.1831C>T (p.Pro611Ser)
NM_001458.5(FLNC):c.1844A>C (p.Lys615Thr)
NM_001458.5(FLNC):c.1847T>A (p.Ile616Asn)
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met) rs770173704
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp) rs199715890
NM_001458.5(FLNC):c.1855GAC[1] (p.Asp620del)
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu) rs771469976
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn) rs567514134
NM_001458.5(FLNC):c.1858G>C (p.Asp620His) rs567514134
NM_001458.5(FLNC):c.1862A>G (p.Lys621Arg)
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys) rs1808320936
NM_001458.5(FLNC):c.1895C>A (p.Pro632His) rs1482049894
NM_001458.5(FLNC):c.1902G>T (p.Glu634Asp)
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr) rs1175392094
NM_001458.5(FLNC):c.1915G>T (p.Ala639Ser)
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu) rs1808322583
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val) rs1808322583
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala) rs1554398369
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) rs765300084
NM_001458.5(FLNC):c.1936G>C (p.Asp646His) rs372668691
NM_001458.5(FLNC):c.193A>G (p.Ser65Gly)
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup) rs1554398377
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu) rs1808324139
NM_001458.5(FLNC):c.195C>A (p.Ser65Arg)
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val) rs2128935277
NM_001458.5(FLNC):c.1972A>G (p.Ile658Val)
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)
NM_001458.5(FLNC):c.197A>C (p.Asp66Ala)
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)
NM_001458.5(FLNC):c.198C>A (p.Asp66Glu)
NM_001458.5(FLNC):c.1990G>A (p.Asp664Asn)
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
NM_001458.5(FLNC):c.199G>A (p.Gly67Arg)
NM_001458.5(FLNC):c.2007+6G>A rs757293841
NM_001458.5(FLNC):c.2007+6G>C
NM_001458.5(FLNC):c.2008-3C>T
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)
NM_001458.5(FLNC):c.200G>T (p.Gly67Val) rs1807857687
NM_001458.5(FLNC):c.2027G>A (p.Gly676Asp)
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly) rs1232073461
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser) rs1808331792
NM_001458.5(FLNC):c.2036C>A (p.Pro679His)
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) rs975517733
NM_001458.5(FLNC):c.2047A>G (p.Ile683Val)
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu) rs769221710
NM_001458.5(FLNC):c.2053G>A (p.Asp685Asn)
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr) rs774194364
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro) rs774194364
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser) rs774194364
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile) rs2128935358
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)
NM_001458.5(FLNC):c.2084G>A (p.Arg695His) rs766592492
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu) rs766592492
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser) rs1461903090
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp) rs1562994518
NM_001458.5(FLNC):c.2094C>T (p.Gly698=) rs1585156683
NM_001458.5(FLNC):c.2099G>A (p.Gly700Glu)
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg) rs753914864
NM_001458.5(FLNC):c.211A>G (p.Ile71Val) rs1250893880
NM_001458.5(FLNC):c.2122-15G>A
NM_001458.5(FLNC):c.2122-6C>G rs1808361488
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu) rs187481700
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr) rs1554396387
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu) rs778781499
NM_001458.5(FLNC):c.2131G>C (p.Gly711Arg)
NM_001458.5(FLNC):c.2131_2145del (p.Gly711_Asp715del)
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met) rs199595235
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val) rs1808363671
NM_001458.5(FLNC):c.2149A>G (p.Lys717Glu)
NM_001458.5(FLNC):c.214G>C (p.Ala72Pro)
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe) rs1808363999
NM_001458.5(FLNC):c.215C>T (p.Ala72Val) rs893814984
NM_001458.5(FLNC):c.2165G>T (p.Gly722Val)
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val) rs1808365040
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp) rs1554398553
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)
NM_001458.5(FLNC):c.217C>G (p.Leu73Val)
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del) rs2128935556
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser) rs1562994905
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg) rs1585157281
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn) rs769984017
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val) rs2128935565
NM_001458.5(FLNC):c.2212C>A (p.His738Asn)
NM_001458.5(FLNC):c.2218A>G (p.Ile740Val)
NM_001458.5(FLNC):c.2218ATC[2] (p.Ile742del)
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr) rs2128935573
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val) rs769224072
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del) rs2128935577
NM_001458.5(FLNC):c.2230T>C (p.Trp744Arg)
NM_001458.5(FLNC):c.223G>C (p.Glu75Gln)
NM_001458.5(FLNC):c.2244C>A (p.Asn748Lys) rs752145129
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu) rs763901270
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu) rs932445396
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala) rs1808369718
NM_001458.5(FLNC):c.2249C>A (p.Pro750His)
NM_001458.5(FLNC):c.2249C>T (p.Pro750Leu)
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)
NM_001458.5(FLNC):c.2255G>T (p.Ser752Ile)
NM_001458.5(FLNC):c.2265+11_2265+12delinsTG
NM_001458.5(FLNC):c.2272G>C (p.Val758Leu)
NM_001458.5(FLNC):c.2275G>C (p.Gly759Arg)
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg) rs1160582987
NM_001458.5(FLNC):c.2287C>A (p.His763Asn)
NM_001458.5(FLNC):c.2293G>C (p.Glu765Gln)
NM_001458.5(FLNC):c.2305G>A (p.Val769Met)
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys) rs2128932197
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala) rs1808383222
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly) rs746082496
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe) rs2128935691
NM_001458.5(FLNC):c.2338A>G (p.Lys780Glu)
NM_001458.5(FLNC):c.2347G>A (p.Glu783Lys)
NM_001458.5(FLNC):c.234C>A (p.Ser78Arg)
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet) rs2128932203
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg) rs2128935692
NM_001458.5(FLNC):c.2354C>T (p.Thr785Ile)
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)
NM_001458.5(FLNC):c.2360T>A (p.Phe787Tyr)
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser) rs760513917
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg) rs1010774264
NM_001458.5(FLNC):c.2368G>A (p.Asp790Asn)
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg) rs1196887010
NM_001458.5(FLNC):c.2389+18G>A
NM_001458.5(FLNC):c.2389G>A (p.Gly797Ser)
NM_001458.5(FLNC):c.2390-3C>T
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr) rs778594252
NM_001458.5(FLNC):c.2395G>A (p.Val799Met) rs1345929888
NM_001458.5(FLNC):c.2401A>T (p.Ile801Phe)
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)
NM_001458.5(FLNC):c.2415C>G (p.Cys805Trp)
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys) rs1374458008
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del) rs1585157919
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu) rs763153223
NM_001458.5(FLNC):c.2432G>C (p.Gly811Ala)
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser) rs1808396338
NM_001458.5(FLNC):c.2443G>A (p.Ala815Thr)
NM_001458.5(FLNC):c.2444C>T (p.Ala815Val)
NM_001458.5(FLNC):c.2449A>G (p.Ile817Val)
NM_001458.5(FLNC):c.244A>C (p.Met82Leu) rs2128932209
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val) rs886044638
NM_001458.5(FLNC):c.245T>A (p.Met82Lys) rs1807859917
NM_001458.5(FLNC):c.245T>G (p.Met82Arg) rs1807859917
NM_001458.5(FLNC):c.2460C>A (p.Asp820Glu)
NM_001458.5(FLNC):c.246G>A (p.Met82Ile) rs1554396403
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr) rs1562995383
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly) rs559621589
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del) rs1188205440
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
NM_001458.5(FLNC):c.2483C>A (p.Thr828Asn)
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val) rs758056957
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln) rs2128935786
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser) rs1422445527
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu) rs199652368
NM_001458.5(FLNC):c.250C>G (p.Arg84Gly)
NM_001458.5(FLNC):c.2510G>C (p.Gly837Ala)
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr) rs1808400610
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)
NM_001458.5(FLNC):c.251G>C (p.Arg84Pro)
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His) rs2128935808
NM_001458.5(FLNC):c.2525C>T (p.Thr842Ile)
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe) rs973425855
NM_001458.5(FLNC):c.2528T>C (p.Ile843Thr)
NM_001458.5(FLNC):c.2531T>C (p.Met844Thr)
NM_001458.5(FLNC):c.2533G>T (p.Val845Leu)
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser) rs755425307
NM_001458.5(FLNC):c.2550+3A>T
NM_001458.5(FLNC):c.2550+3dup
NM_001458.5(FLNC):c.2550+4C>G
NM_001458.5(FLNC):c.2550G>A (p.Gln850=) rs1585158097
NM_001458.5(FLNC):c.2551-3C>T rs1293024920
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr) rs111482519
NM_001458.5(FLNC):c.2565C>G (p.Ser855Arg)
NM_001458.5(FLNC):c.2579A>G (p.Lys860Arg)
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly) rs749269317
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser) rs754750752
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg) rs2128935920
NM_001458.5(FLNC):c.2608G>A (p.Val870Ile)
NM_001458.5(FLNC):c.2611A>G (p.Lys871Glu)
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp) rs2128935929
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg) rs1418979185
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)
NM_001458.5(FLNC):c.2641+16_2642-28delinsCCTG
NM_001458.5(FLNC):c.2641+5G>C rs2128935942
NM_001458.5(FLNC):c.2642-2dup
NM_001458.5(FLNC):c.2642G>A (p.Gly881Asp)
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)
NM_001458.5(FLNC):c.266G>A (p.Arg89His) rs1554396410
NM_001458.5(FLNC):c.2699C>T (p.Ala900Val)
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg) rs1807861341
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln) rs2128935990
NM_001458.5(FLNC):c.2702A>C (p.Lys901Thr)
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn) rs1554398845
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn) rs781591239
NM_001458.5(FLNC):c.2707G>C (p.Asp903His)
NM_001458.5(FLNC):c.2710G>A (p.Val904Met) rs1340231541
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly) rs2128935993
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)
NM_001458.5(FLNC):c.2718T>G (p.Phe906Leu)
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr) rs886042565
NM_001458.5(FLNC):c.272A>G (p.Asn91Ser)
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser) rs1808427228
NM_001458.5(FLNC):c.2735G>A (p.Gly912Asp)
NM_001458.5(FLNC):c.2738A>G (p.Glu913Gly)
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys) rs1807861563
NM_001458.5(FLNC):c.2744T>C (p.Val915Ala)
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu) rs143720860
NM_001458.5(FLNC):c.2763A>G (p.Ile921Met)
NM_001458.5(FLNC):c.2771A>C (p.His924Pro)
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp) rs1808429467
NM_001458.5(FLNC):c.2779T>A (p.Ser927Thr)
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys) rs762326127
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr) rs1585158690
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del) rs1808429673
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn) rs1808429909
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His) rs1808429909
NM_001458.5(FLNC):c.2792A>G (p.Lys931Arg)
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn) rs1808430365
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro) rs2128936026
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu) rs2128936027
NM_001458.5(FLNC):c.2811+3G>A
NM_001458.5(FLNC):c.2812-4A>G
NM_001458.5(FLNC):c.2812-8C>G
NM_001458.5(FLNC):c.2813G>C (p.Gly938Ala)
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys) rs2128936077
NM_001458.5(FLNC):c.2820G>T (p.Met940Ile)
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala) rs1808440244
NM_001458.5(FLNC):c.2830G>A (p.Val944Met) rs2128936081
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr) rs761905908
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu) rs1808441944
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu) rs1808441944
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe) rs760566825
NM_001458.5(FLNC):c.2855C>T (p.Pro952Leu)
NM_001458.5(FLNC):c.2857A>G (p.Lys953Glu)
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg) rs766581831
NM_001458.5(FLNC):c.2876A>G (p.Asn959Ser)
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala) rs568452175
NM_001458.5(FLNC):c.2884C>T (p.Pro962Ser)
NM_001458.5(FLNC):c.2885C>A (p.Pro962His)
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met) rs1562996103
NM_001458.5(FLNC):c.2891T>C (p.Leu964Pro)
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro) rs2128936106
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
NM_001458.5(FLNC):c.2900G>C (p.Ser967Thr)
NM_001458.5(FLNC):c.2907C>G (p.Ile969Met)
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro) rs1585147935
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg) rs1585147935
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu) rs548199973
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser) rs2128936113
NM_001458.5(FLNC):c.2929+5G>A
NM_001458.5(FLNC):c.2929+5G>C
NM_001458.5(FLNC):c.2929+6T>G rs2128936121
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys) rs1195481399
NM_001458.5(FLNC):c.2930-5C>G rs371599113
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)
NM_001458.5(FLNC):c.2950C>G (p.Gln984Glu)
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr) rs1179474749
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu) rs1419637272
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val) rs2128936160
NM_001458.5(FLNC):c.297C>G (p.Asn99Lys)
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp) rs1808452430
NM_001458.5(FLNC):c.3005G>T (p.Arg1002Leu)
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu) rs1808453806
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn) rs2128932233
NM_001458.5(FLNC):c.3022C>A (p.Arg1008Ser)
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln) rs375445167
NM_001458.5(FLNC):c.3026G>T (p.Arg1009Leu)
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe) rs1554396416
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr) rs1808454823
NM_001458.5(FLNC):c.3035C>T (p.Pro1012Leu)
NM_001458.5(FLNC):c.3037T>C (p.Cys1013Arg)
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser) rs2128936181
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001458.5(FLNC):c.3056G>A (p.Gly1019Asp)
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg) rs2128936185
NM_001458.5(FLNC):c.3064G>A (p.Glu1022Lys)
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala) rs1808455747
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr) rs376107866
NM_001458.5(FLNC):c.3071A>G (p.Gln1024Arg)
NM_001458.5(FLNC):c.3076G>A (p.Val1026Met) rs1808456380
NM_001458.5(FLNC):c.3079C>A (p.Arg1027Ser)
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr) rs1554399034
NM_001458.5(FLNC):c.3088C>T (p.Pro1030Ser)
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg) rs2128936198
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg) rs372467579
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
NM_001458.5(FLNC):c.3107A>C (p.Tyr1036Ser)
NM_001458.5(FLNC):c.3109A>G (p.Lys1037Glu)
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn) rs1808458838
NM_001458.5(FLNC):c.3118A>T (p.Ile1040Phe)
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile) rs557380928
NM_001458.5(FLNC):c.3129T>G (p.Asp1043Glu)
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala) rs749099313
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu) rs2128936216
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe) rs1585159401
NM_001458.5(FLNC):c.3151C>T (p.Pro1051Ser)
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser) rs1287987501
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp) rs763807492
NM_001458.5(FLNC):c.316T>G (p.Phe106Val)
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala) rs767119310
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala) rs2128936236
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)
NM_001458.5(FLNC):c.3197G>A (p.Cys1066Tyr)
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys) rs370512642
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln) rs2128936345
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn) rs2128936356
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser) rs950648783
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile) rs1354409050
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu) rs1354409050
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn) rs369398096
NM_001458.5(FLNC):c.3257A>T (p.Asp1086Val)
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val) rs2128936367
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser) rs2128932240
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg) rs1554399171
NM_001458.5(FLNC):c.326G>A (p.Arg109His)
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys) rs1405189650
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp) rs1374868566
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr) rs1238364459
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys) rs781352216
NM_001458.5(FLNC):c.332A>G (p.His111Arg)
NM_001458.5(FLNC):c.3341A>G (p.Asp1114Gly)
NM_001458.5(FLNC):c.3343G>T (p.Gly1115Cys)
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp) rs2128936401
NM_001458.5(FLNC):c.3349T>C (p.Cys1117Arg)
NM_001458.5(FLNC):c.3349T>G (p.Cys1117Gly)
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly) rs749637616
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys) rs375013141
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met) rs375013141
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg) rs1808488088
NM_001458.5(FLNC):c.3380G>A (p.Gly1127Asp)
NM_001458.5(FLNC):c.338A>G (p.Lys113Arg)
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val) rs773110786
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser) rs2128936421
NM_001458.5(FLNC):c.3405T>G (p.Phe1135Leu)
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr) rs1562996847
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val) rs2128936425
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro) rs1807864684
NM_001458.5(FLNC):c.3421C>T (p.Pro1141Ser)
NM_001458.5(FLNC):c.3424G>T (p.Gly1142Cys)
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser) rs1585160095
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu) rs200723434
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)
NM_001458.5(FLNC):c.343G>T (p.Val115Leu)
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile) rs2128936430
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp) rs779184516
NM_001458.5(FLNC):c.3451C>T (p.Pro1151Ser)
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu) rs1396046243
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala) rs745361779
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly) rs760500171
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln) rs377489161
NM_001458.5(FLNC):c.3490G>T (p.Gly1164Cys)
NM_001458.5(FLNC):c.3496G>A (p.Glu1166Lys)
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys) rs199814952
NM_001458.5(FLNC):c.3507G>C (p.Lys1169Asn)
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys) rs769490872
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp) rs1298622480
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)
NM_001458.5(FLNC):c.3516G>T (p.Glu1172Asp)
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val) rs1229255608
NM_001458.5(FLNC):c.352+4A>G
NM_001458.5(FLNC):c.352G>A (p.Asp118Asn)
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
NM_001458.5(FLNC):c.3539G>C (p.Cys1180Ser)
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe) rs1319931619
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro) rs2128936467
NM_001458.5(FLNC):c.3551G>A (p.Gly1184Asp) rs2128936473
NM_001458.5(FLNC):c.3556G>A (p.Ala1186Thr)
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val) rs1259241248
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly) rs772055432
NM_001458.5(FLNC):c.3587C>T (p.Ala1196Val)
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys) rs751963297
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln) rs751963297
NM_001458.5(FLNC):c.3613C>T (p.His1205Tyr)
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys) rs1039623010
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys) rs117864464
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)
NM_001458.5(FLNC):c.3638A>G (p.His1213Arg)
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro) rs2128936501
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val) rs775551445
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr) rs2128933606
NM_001458.5(FLNC):c.3671A>G (p.Tyr1224Cys)
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val) rs1808506817
NM_001458.5(FLNC):c.367G>A (p.Val123Met)
NM_001458.5(FLNC):c.3689A>C (p.Tyr1230Ser)
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) rs863225116
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp) rs1808507457
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup) rs1808507351
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) rs754533053
NM_001458.5(FLNC):c.3700C>T (p.Pro1234Ser)
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met) rs1208885010
NM_001458.5(FLNC):c.3703G>T (p.Val1235Leu)
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr) rs1808053038
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys) rs777798089
NM_001458.5(FLNC):c.371A>C (p.Asp124Ala)
NM_001458.5(FLNC):c.3725T>C (p.Val1242Ala)
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)
NM_001458.5(FLNC):c.3739G>A (p.Ala1247Thr)
NM_001458.5(FLNC):c.3740C>A (p.Ala1247Glu)
NM_001458.5(FLNC):c.3761A>C (p.Lys1254Thr)
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln) rs747033771
NM_001458.5(FLNC):c.3790+5G>C rs199917473
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys) rs201335143
NM_001458.5(FLNC):c.3799C>G (p.Arg1267Gly) rs371483562
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp) rs371483562
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser) rs760318519
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg) rs760318519
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly) rs1585161164
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu) rs1808547668
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)
NM_001458.5(FLNC):c.3820A>G (p.Thr1274Ala)
NM_001458.5(FLNC):c.3823G>C (p.Val1275Leu)
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr) rs1808548777
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser) rs1808548777
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro) rs1562997744
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile) rs776862347
NM_001458.5(FLNC):c.3848C>T (p.Thr1283Ile)
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met) rs750415476
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu) rs750415476
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser) rs944103680
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile) rs944103680
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys) rs1808552408
NM_001458.5(FLNC):c.3883C>G (p.Pro1295Ala)
NM_001458.5(FLNC):c.3884C>T (p.Pro1295Leu)
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp) rs747587140
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile) rs746249435
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup) rs756167665
NM_001458.5(FLNC):c.3908A>G (p.Tyr1303Cys)
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe) rs1808553804
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp) rs1808554442
NM_001458.5(FLNC):c.3920A>G (p.Asn1307Ser)
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro) rs199804244
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys) rs2128936781
NM_001458.5(FLNC):c.3950C>G (p.Thr1317Ser)
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser) rs777939926
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
NM_001458.5(FLNC):c.3961G>C (p.Glu1321Gln)
NM_001458.5(FLNC):c.3964+5G>A rs2128936793
NM_001458.5(FLNC):c.3964G>C (p.Gly1322Arg)
NM_001458.5(FLNC):c.3965-9G>A
NM_001458.5(FLNC):c.3965G>A (p.Gly1322Asp)
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met) rs771676134
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly) rs2128936843
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile) rs1585161584
NM_001458.5(FLNC):c.3989A>T (p.Tyr1330Phe)
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro) rs1808053502
NM_001458.5(FLNC):c.3996G>T (p.Glu1332Asp)
NM_001458.5(FLNC):c.3997G>A (p.Val1333Ile)
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln) rs1554399580
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu) rs1808566825
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val) rs775383465
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)
NM_001458.5(FLNC):c.4043G>A (p.Cys1348Tyr)
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile) rs1585161671
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu) rs746731567
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys) rs2128933620
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)
NM_001458.5(FLNC):c.406A>G (p.Thr136Ala)
NM_001458.5(FLNC):c.4076G>T (p.Gly1359Val)
NM_001458.5(FLNC):c.4087G>A (p.Gly1363Ser)
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe) rs768635501
NM_001458.5(FLNC):c.4102G>C (p.Ala1368Pro)
NM_001458.5(FLNC):c.4102G>T (p.Ala1368Ser)
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val) rs896305338
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser) rs1554399615
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly) rs1342121466
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)
NM_001458.5(FLNC):c.4127+5C>A
NM_001458.5(FLNC):c.4127+5C>T rs2128936919
NM_001458.5(FLNC):c.4128G>A (p.Arg1376=)
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg) rs768725407
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)
NM_001458.5(FLNC):c.4132G>T (p.Ala1378Ser)
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp) rs766513255
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu) rs2128937018
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp) rs1808586180
NM_001458.5(FLNC):c.4159A>C (p.Ile1387Leu)
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val) rs1032003580
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)
NM_001458.5(FLNC):c.4171_4227del (p.Ser1391_Tyr1409del)
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys) rs1372801269
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile) rs2128937035
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del) rs1167620763
NM_001458.5(FLNC):c.4201A>G (p.Lys1401Glu)
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr) rs1808588600
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg) rs1808588600
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)
NM_001458.5(FLNC):c.4240C>T (p.Pro1414Ser)
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile) rs1432229476
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala) rs2128937054
NM_001458.5(FLNC):c.4257C>A (p.Val1419=)
NM_001458.5(FLNC):c.4271G>C (p.Gly1424Ala)
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro) rs764452839
NM_001458.5(FLNC):c.4279C>T (p.Pro1427Ser)
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu) rs1192906461
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=) rs1808591761
NM_001458.5(FLNC):c.4288G>A (p.Gly1430Arg)
NM_001458.5(FLNC):c.4289-3C>A
NM_001458.5(FLNC):c.4292G>T (p.Ser1431Ile)
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr) rs2128937234
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His) rs143623535
NM_001458.5(FLNC):c.4301G>C (p.Arg1434Pro)
NM_001458.5(FLNC):c.4309G>A (p.Val1437Met)
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu) rs1445187487
NM_001458.5(FLNC):c.4312A>G (p.Lys1438Glu)
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn) rs1562998835
NM_001458.5(FLNC):c.4318G>A (p.Val1440Met)
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe) rs1225645939
NM_001458.5(FLNC):c.4321G>A (p.Val1441Met)
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu) rs1458536220
NM_001458.5(FLNC):c.4337T>C (p.Val1446Ala)
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg) rs976487545
NM_001458.5(FLNC):c.4346C>T (p.Ser1449Leu)
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)
NM_001458.5(FLNC):c.4364C>T (p.Ala1455Val)
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu) rs1808623920
NM_001458.5(FLNC):c.4391C>T (p.Thr1464Ile)
NM_001458.5(FLNC):c.4399G>A (p.Val1467Met)
NM_001458.5(FLNC):c.4411C>G (p.Gln1471Glu)
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp) rs1174959724
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser) rs982026083
NM_001458.5(FLNC):c.4426C>A (p.Pro1476Thr)
NM_001458.5(FLNC):c.4427C>T (p.Pro1476Leu)
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)
NM_001458.5(FLNC):c.446A>T (p.Glu149Val) rs1808055544
NM_001458.5(FLNC):c.4472T>C (p.Val1491Ala)
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln) rs1241325618
NM_001458.5(FLNC):c.4484A>G (p.Asp1495Gly)
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)
NM_001458.5(FLNC):c.4492G>T (p.Asp1498Tyr)
NM_001458.5(FLNC):c.4493A>G (p.Asp1498Gly)
NM_001458.5(FLNC):c.4496G>A (p.Gly1499Asp)
NM_001458.5(FLNC):c.44G>A (p.Gly15Asp)
NM_001458.5(FLNC):c.4504A>G (p.Thr1502Ala)
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala) rs771974318
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser) rs1808634430
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)
NM_001458.5(FLNC):c.4519C>G (p.Pro1507Ala)
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys) rs1354261792
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg) rs1445118718
NM_001458.5(FLNC):c.4534C>T (p.Pro1512Ser)
NM_001458.5(FLNC):c.4537T>C (p.Tyr1513His)
NM_001458.5(FLNC):c.4540A>G (p.Thr1514Ala)
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)
NM_001458.5(FLNC):c.4550T>G (p.Val1517Gly)
NM_001458.5(FLNC):c.4562A>C (p.Asp1521Ala)
NM_001458.5(FLNC):c.4564C>A (p.Gln1522Lys)
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) rs559667295
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met) rs1358403336
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly) rs746275035
NM_001458.5(FLNC):c.4580+4A>G
NM_001458.5(FLNC):c.4580+5G>A
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg) rs2128937518
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met) rs371988433
NM_001458.5(FLNC):c.4598T>A (p.Val1533Asp)
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val) rs1808665032
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val) rs770746660
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)
NM_001458.5(FLNC):c.4631C>A (p.Ala1544Asp)
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile) rs2128937535
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys) rs774263134
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser) rs2128937538
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe) rs2128937539
NM_001458.5(FLNC):c.4649A>G (p.Asn1550Ser)
NM_001458.5(FLNC):c.4655C>T (p.Ser1552Phe)
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met) rs1351915127
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro) rs1490741362
NM_001458.5(FLNC):c.4690A>G (p.Ile1564Val)
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly) rs1808670044
NM_001458.5(FLNC):c.4697C>T (p.Ala1566Val)
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp) rs2128937563
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly) rs759739899
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr) rs1807849615
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu) rs2291569
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys) rs1562999563
NM_001458.5(FLNC):c.472A>C (p.Lys158Gln)
NM_001458.5(FLNC):c.4732A>G (p.Ile1578Val)
NM_001458.5(FLNC):c.4737+5G>A rs1808673722
NM_001458.5(FLNC):c.4738-4_4738-3delinsAT
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His) rs1365087680
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser) rs2128937618
NM_001458.5(FLNC):c.4748G>C (p.Gly1583Ala)
NM_001458.5(FLNC):c.4768A>G (p.Ile1590Val)
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser) rs1808679455
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly) rs1808679952
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn) rs780133859
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile) rs2128937641
NM_001458.5(FLNC):c.4808T>C (p.Leu1603Pro)
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu) rs778021239
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys) rs1808683017
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly) rs374756527
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln) rs1168628508
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile) rs1025308371
NM_001458.5(FLNC):c.4838C>A (p.Thr1613Asn)
NM_001458.5(FLNC):c.4847A>G (p.Tyr1616Cys)
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys) rs1808685152
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys) rs1585164018
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser) rs2128937664
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu) rs1585164029
NM_001458.5(FLNC):c.4877T>A (p.Phe1626Tyr)
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu) rs751592993
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln) rs1585164043
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser) rs1479430297
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile) rs756074974
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=) rs1808689032
NM_001458.5(FLNC):c.4927+3G>A rs2128937684
NM_001458.5(FLNC):c.4927+5G>A rs1808689249
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys) rs1808699932
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser) rs748563858
NM_001458.5(FLNC):c.4940G>T (p.Gly1647Val)
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly) rs1563000044
NM_001458.5(FLNC):c.4970G>T (p.Arg1657Leu)
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg) rs2128937796
NM_001458.5(FLNC):c.4988A>G (p.Glu1663Gly)
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)
NM_001458.5(FLNC):c.4A>G (p.Met2Val)
NM_001458.5(FLNC):c.5000C>G (p.Thr1667Arg)
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu) rs1563000088
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)
NM_001458.5(FLNC):c.5014G>A (p.Ala1672Thr)
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg) rs1585164542
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln) rs1554400214
NM_001458.5(FLNC):c.5032G>T (p.Val1678Leu)
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys) rs1364205864
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser) rs552930634
NM_001458.5(FLNC):c.5041A>G (p.Thr1681Ala)
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)
NM_001458.5(FLNC):c.5045T>G (p.Val1682Gly)
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg) rs1808713041
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup) rs1808713133
NM_001458.5(FLNC):c.5083G>A (p.Val1695Ile)
NM_001458.5(FLNC):c.5084T>C (p.Val1695Ala)
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp) rs1563000172
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val) rs2128937827
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val) rs1011817473
NM_001458.5(FLNC):c.5126C>T (p.Pro1709Leu)
NM_001458.5(FLNC):c.5135G>A (p.Gly1712Asp)
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala) rs2128937832
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)
NM_001458.5(FLNC):c.515A>C (p.Lys172Thr)
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg) rs759786433
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu) rs1181189567
NM_001458.5(FLNC):c.5163G>A (p.Gly1721=)
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser) rs765591354
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr) rs2128937841
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp) rs2128937845
NM_001458.5(FLNC):c.5180A>G (p.Asn1727Ser) rs1808718121
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly) rs1554400248
NM_001458.5(FLNC):c.5183G>A (p.Ser1728Asn)
NM_001458.5(FLNC):c.5184C>A (p.Ser1728Arg)
NM_001458.5(FLNC):c.5191C>G (p.His1731Asp)
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)
NM_001458.5(FLNC):c.5199+6T>G
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del) rs1808059318
NM_001458.5(FLNC):c.5200-18C>G
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr) rs1359496906
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val) rs751149867
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu) rs1291689149
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser) rs1350019040
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln) rs745650222
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp) rs1563000552
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met) rs764373507
NM_001458.5(FLNC):c.5246A>C (p.Gln1749Pro)
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
NM_001458.5(FLNC):c.525G>C (p.Gln175His)
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys) rs1330454582
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val) rs1286156977
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del) rs1808740121
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly) rs369187211
NM_001458.5(FLNC):c.5273G>T (p.Arg1758Leu)
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp) rs1808741985
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)
NM_001458.5(FLNC):c.5299-17C>G
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)
NM_001458.5(FLNC):c.5306_5314del (p.Glu1769_Pro1771del) rs2128938073
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp) rs1808756761
NM_001458.5(FLNC):c.5311C>A (p.Pro1771Thr)
NM_001458.5(FLNC):c.5314G>A (p.Val1772Met)
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg) rs1273796039
NM_001458.5(FLNC):c.5323G>A (p.Val1775Met)
NM_001458.5(FLNC):c.5323G>T (p.Val1775Leu)
NM_001458.5(FLNC):c.5328G>C (p.Glu1776Asp)
NM_001458.5(FLNC):c.532A>G (p.Ile178Val)
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)
NM_001458.5(FLNC):c.5333T>C (p.Met1778Thr)
NM_001458.5(FLNC):c.5339C>A (p.Ser1780Tyr)
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile) rs1554400464
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser) rs1808758860
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys) rs1311819055
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe) rs1808759348
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr) rs2128938095
NM_001458.5(FLNC):c.5375C>G (p.Ala1792Gly)
NM_001458.5(FLNC):c.5390A>G (p.Glu1797Gly)
NM_001458.5(FLNC):c.5398+6G>T
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg) rs2128938108
NM_001458.5(FLNC):c.5399G>A (p.Gly1800Glu)
NM_001458.5(FLNC):c.5412G>C (p.Met1804Ile)
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr) rs1808775264
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu) rs2128938211
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile) rs1361160043
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del) rs1312829675
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn) rs1808778177
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr) rs1808778177
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val) rs2128938237
NM_001458.5(FLNC):c.5459G>A (p.Gly1820Asp)
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
NM_001458.5(FLNC):c.5464A>T (p.Ile1822Phe)
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met) rs1808779198
NM_001458.5(FLNC):c.5472G>A (p.Val1824=)
NM_001458.5(FLNC):c.5482C>T (p.Pro1828Ser)
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu) rs2128938246
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile) rs1585166066
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu) rs374126692
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val) rs1808780127
NM_001458.5(FLNC):c.5501A>C (p.His1834Pro)
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu) rs1808780678
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)
NM_001458.5(FLNC):c.5528A>G (p.Asn1843Ser)
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)
NM_001458.5(FLNC):c.5535C>G (p.Ile1845Met)
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu) rs1408298919
NM_001458.5(FLNC):c.5538T>C (p.Pro1846=)
NM_001458.5(FLNC):c.5542A>G (p.Ser1848Gly)
NM_001458.5(FLNC):c.5544C>A (p.Ser1848Arg)
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr) rs1808798354
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
NM_001458.5(FLNC):c.5552A>G (p.Gln1851Arg)
NM_001458.5(FLNC):c.5558A>G (p.Tyr1853Cys)
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)
NM_001458.5(FLNC):c.5564A>G (p.Asp1855Gly)
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)
NM_001458.5(FLNC):c.5576G>A (p.Ser1859Asn)
NM_001458.5(FLNC):c.5581C>T (p.His1861Tyr)
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn) rs1224825896
NM_001458.5(FLNC):c.5590G>A (p.Ala1864Thr)
NM_001458.5(FLNC):c.5602G>A (p.Gly1868Ser)
NM_001458.5(FLNC):c.5602G>T (p.Gly1868Cys)
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys) rs1808801511
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser) rs1808801761
NM_001458.5(FLNC):c.5651C>T (p.Thr1884Ile) rs1064796546
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)
NM_001458.5(FLNC):c.5668+3G>A rs1563001474
NM_001458.5(FLNC):c.5668+6G>A rs773119692
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp) rs1808803000
NM_001458.5(FLNC):c.5669-3C>T
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys) rs2128938427
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp) rs1808808728
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del) rs1425063581
NM_001458.5(FLNC):c.5681T>G (p.Leu1894Arg) rs2128938434
NM_001458.5(FLNC):c.5687T>G (p.Val1896Gly)
NM_001458.5(FLNC):c.5690A>G (p.Glu1897Gly)
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp) rs1808809802
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)
NM_001458.5(FLNC):c.5698T>C (p.Ser1900Pro)
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)
NM_001458.5(FLNC):c.5705C>A (p.Ala1902Glu)
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala) rs1808810815
NM_001458.5(FLNC):c.5714C>G (p.Thr1905Ser)
NM_001458.5(FLNC):c.5714C>T (p.Thr1905Ile)
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg) rs1585166667
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala) rs2128938447
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu) rs2128938449
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del) rs780830196
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)
NM_001458.5(FLNC):c.574G>A (p.Gly192Ser)
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys) rs1808812647
NM_001458.5(FLNC):c.5756T>C (p.Leu1919Pro)
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg) rs1585166739
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp) rs1808814546
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly) rs369518785
NM_001458.5(FLNC):c.5785A>G (p.Ile1929Val)
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn) rs762297336
NM_001458.5(FLNC):c.5797G>T (p.Asp1933Tyr)
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu) rs1808817011
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro) rs1454768847
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu) rs764747370
NM_001458.5(FLNC):c.5819G>A (p.Ser1940Asn)
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile) rs2128938494
NM_001458.5(FLNC):c.5821C>T (p.Pro1941Ser)
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu) rs1808818042
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu) rs567779611
NM_001458.5(FLNC):c.5834A>G (p.Lys1945Arg)
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val) rs2128938499
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr) rs1808818903
NM_001458.5(FLNC):c.583G>A (p.Val195Met) rs770955703
NM_001458.5(FLNC):c.5842+3G>A rs2128938504
NM_001458.5(FLNC):c.5842+5G>C rs1254947768
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)
NM_001458.5(FLNC):c.5874T>A (p.Asn1958Lys)
NM_001458.5(FLNC):c.5875G>A (p.Val1959Met)
NM_001458.5(FLNC):c.587A>T (p.Asp196Val) rs2128933694
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile) rs1808867682
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys) rs772580545
NM_001458.5(FLNC):c.5891A>G (p.Asp1964Gly)
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met) rs771255247
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly) rs1585167670
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile) rs1563002254
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu) rs767053963
NM_001458.5(FLNC):c.592T>C (p.Cys198Arg)
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val) rs1808870602
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr) rs1410315376
NM_001458.5(FLNC):c.5968C>T (p.Pro1990Ser)
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg) rs1808872550
NM_001458.5(FLNC):c.598C>G (p.Pro200Ala)
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)
NM_001458.5(FLNC):c.5993A>C (p.Asn1998Thr)
NM_001458.5(FLNC):c.5994C>A (p.Asn1998Lys)
NM_001458.5(FLNC):c.5T>C (p.Met2Thr)
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr) rs1554400940
NM_001458.5(FLNC):c.6004+3G>A
NM_001458.5(FLNC):c.6005-14C>G rs1012108263
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)
NM_001458.5(FLNC):c.6008T>C (p.Ile2003Thr)
NM_001458.5(FLNC):c.601+4A>G
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser) rs1808062939
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)
NM_001458.5(FLNC):c.602-3C>T rs774453069
NM_001458.5(FLNC):c.6020C>G (p.Pro2007Arg)
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu) rs2128938868
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu) rs772477251
NM_001458.5(FLNC):c.6049G>T (p.Val2017Leu)
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly) rs2128938884
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys) rs537114122
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp) rs1439304519
NM_001458.5(FLNC):c.6063C>T (p.Gly2021=)
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile) rs767695121
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro) rs1554400980
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu) rs1808884606
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu) rs2128938907
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met) rs559639511
NM_001458.5(FLNC):c.6118G>T (p.Asp2040Tyr)
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr) rs745842738
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser) rs745842738
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp) rs1585168065
NM_001458.5(FLNC):c.6129G>T (p.Lys2043Asn)
NM_001458.5(FLNC):c.6130G>T (p.Val2044Leu)
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=) rs762748670
NM_001458.5(FLNC):c.6133C>T (p.Arg2045Trp)
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)
NM_001458.5(FLNC):c.6136G>T (p.Val2046Phe)
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg) rs1585168103
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg) rs2128938929
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg) rs1808887627
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala) rs1808887741
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser) rs1554400996
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)
NM_001458.5(FLNC):c.6178G>A (p.Ala2060Thr)
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys) rs754160175
NM_001458.5(FLNC):c.6202A>C (p.Asn2068His)
NM_001458.5(FLNC):c.6205G>A (p.Ala2069Thr) rs368562957
NM_001458.5(FLNC):c.6208+3A>G rs1585168169
NM_001458.5(FLNC):c.6208+4C>T rs1554401011
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)
NM_001458.5(FLNC):c.6209G>A (p.Gly2070Asp)
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys) rs2128939068
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg) rs2128939071
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys) rs1366093926
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala) rs922864783
NM_001458.5(FLNC):c.622G>C (p.Ala208Pro)
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg) rs1808912488
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp) rs2128939083
NM_001458.5(FLNC):c.623C>A (p.Ala208Asp)
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg) rs2128939089
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr) rs2128939092
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu) rs2128939097
NM_001458.5(FLNC):c.6256A>G (p.Ile2086Val)
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr) rs1808913302
NM_001458.5(FLNC):c.6260A>G (p.Asn2087Ser)
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)
NM_001458.5(FLNC):c.6263G>A (p.Cys2088Tyr)
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly) rs1808914162
NM_001458.5(FLNC):c.6277G>A (p.Asp2093Asn)
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala) rs749292393
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser) rs373022507
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile) rs2128939110
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu) rs2128939110
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn) rs771090404
NM_001458.5(FLNC):c.6307A>G (p.Thr2103Ala)
NM_001458.5(FLNC):c.6308C>T (p.Thr2103Ile)
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys) rs753069149
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln) rs753069149
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)
NM_001458.5(FLNC):c.6320C>G (p.Thr2107Ser)
NM_001458.5(FLNC):c.6322T>C (p.Tyr2108His)
NM_001458.5(FLNC):c.6330C>G (p.Ile2110Met)
NM_001458.5(FLNC):c.6340T>C (p.Phe2114Leu)
NM_001458.5(FLNC):c.6346G>A (p.Asp2116Asn)
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
NM_001458.5(FLNC):c.6352C>T (p.His2118Tyr)
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)
NM_001458.5(FLNC):c.6358C>T (p.Pro2120Ser)
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg) rs1808918849
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile) rs756723697
NM_001458.5(FLNC):c.6360T>C (p.Pro2120=)
NM_001458.5(FLNC):c.6361+3A>G
NM_001458.5(FLNC):c.6361+5G>A rs1808919247
NM_001458.5(FLNC):c.6362-3C>T
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser) rs371455516
NM_001458.5(FLNC):c.6381G>C (p.Lys2127Asn)
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup) rs1808924597
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys) rs1186464414
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu) rs1808925531
NM_001458.5(FLNC):c.6402G>A (p.Met2134Ile)
NM_001458.5(FLNC):c.6416C>G (p.Thr2139Ser)
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp) rs1808926604
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln) rs769106207
NM_001458.5(FLNC):c.6434C>T (p.Pro2145Leu)
NM_001458.5(FLNC):c.6442G>A (p.Ala2148Thr)
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) rs1563003159
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys) rs1563003159
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser) rs1554401153
NM_001458.5(FLNC):c.6472C>T (p.Leu2158Phe)
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe) rs879255640
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg) rs1808936908
NM_001458.5(FLNC):c.6491G>T (p.Trp2164Leu)
NM_001458.5(FLNC):c.6492G>C (p.Trp2164Cys)
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val) rs2128939248
NM_001458.5(FLNC):c.6500T>C (p.Met2167Thr)
NM_001458.5(FLNC):c.6501G>A (p.Met2167Ile)
NM_001458.5(FLNC):c.6517C>A (p.Arg2173Ser)
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
NM_001458.5(FLNC):c.6521T>A (p.Leu2174Gln)
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys) rs376885778
NM_001458.5(FLNC):c.6530C>T (p.Thr2177Ile)
NM_001458.5(FLNC):c.6531C>T (p.Thr2177=)
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser) rs1554401204
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His) rs1554401209
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro) rs1554401209
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
NM_001458.5(FLNC):c.6544A>G (p.Ser2182Gly)
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3]) rs1808941149
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)
NM_001458.5(FLNC):c.6560G>T (p.Arg2187Leu)
NM_001458.5(FLNC):c.6563C>A (p.Thr2188Lys)
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser) rs1474675847
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)
NM_001458.5(FLNC):c.6574G>A (p.Glu2192Lys)
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp) rs1808943188
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln) rs2128934071
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile) rs1585169205
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly) rs758838323
NM_001458.5(FLNC):c.6613G>T (p.Val2205Leu)
NM_001458.5(FLNC):c.6616C>G (p.Arg2206Gly)
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp) rs867032077
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln) rs781671804
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro) rs781671804
NM_001458.5(FLNC):c.6618G>T (p.Arg2206=)
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr) rs1585152566
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del) rs2128939305
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile) rs1808946811
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn) rs1808947656
NM_001458.5(FLNC):c.664A>T (p.Met222Leu) rs2128934074
NM_001458.5(FLNC):c.6650C>T (p.Pro2217Leu)
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His) rs1808948567
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met) rs1198252355
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala) rs2128939339
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser) rs1554401281
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp) rs1196014760
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)
NM_001458.5(FLNC):c.6688C>T (p.Arg2230Cys) rs374186437
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr) rs1808951957
NM_001458.5(FLNC):c.6712A>G (p.Thr2238Ala)
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile) rs1043618669
NM_001458.5(FLNC):c.6715C>G (p.Arg2239Gly)
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln) rs1350832784
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) rs1350832784
NM_001458.5(FLNC):c.671A>C (p.Gln224Pro)
NM_001458.5(FLNC):c.6727+5G>A
NM_001458.5(FLNC):c.6728-3C>T
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys) rs1340208212
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)
NM_001458.5(FLNC):c.6737G>C (p.Ser2246Thr)
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser) rs1808127026
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)
NM_001458.5(FLNC):c.6752C>T (p.Thr2251Ile)
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)
NM_001458.5(FLNC):c.6791_6796dup (p.Glu2265_Ile2266insThrGlu)
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile) rs758080422
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met) rs1207179287
NM_001458.5(FLNC):c.6826G>T (p.Val2276Leu)
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His) rs1186556555
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=) rs2128939497
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly) rs1808970524
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr) rs1174754248
NM_001458.5(FLNC):c.6856C>T (p.His2286Tyr)
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu) rs953084143
NM_001458.5(FLNC):c.6872A>G (p.Lys2291Arg)
NM_001458.5(FLNC):c.6888C>G (p.His2296Gln)
NM_001458.5(FLNC):c.6893C>A (p.Pro2298His)
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu) rs1382734231
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)
NM_001458.5(FLNC):c.6937G>A (p.Gly2313Ser)
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp) rs1808975955
NM_001458.5(FLNC):c.6946A>G (p.Lys2316Glu)
NM_001458.5(FLNC):c.6947A>G (p.Lys2316Arg) rs1563003855
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)
NM_001458.5(FLNC):c.6949G>C (p.Val2317Leu)
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)
NM_001458.5(FLNC):c.6989G>A (p.Gly2330Asp)
NM_001458.5(FLNC):c.699+3_699+7del
NM_001458.5(FLNC):c.699+4C>T
NM_001458.5(FLNC):c.6998-9T>A
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys) rs1808984299
NM_001458.5(FLNC):c.7002G>C (p.Glu2334Asp)
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)
NM_001458.5(FLNC):c.7013G>T (p.Trp2338Leu)
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile) rs1554401463
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp) rs2128939610
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val) rs2128939613
NM_001458.5(FLNC):c.7028G>A (p.Gly2343Asp)
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro) rs529917784
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)
NM_001458.5(FLNC):c.7065C>A (p.Ser2355Arg)
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu) rs2128939626
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val) rs765841097
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del) rs1554401479
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val) rs1554401481
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr) rs1390516682
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)
NM_001458.5(FLNC):c.707C>T (p.Ala236Val) rs771789906
NM_001458.5(FLNC):c.7082T>C (p.Phe2361Ser)
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser) rs374973240
NM_001458.5(FLNC):c.7099G>A (p.Gly2367Ser)
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr) rs2128939641
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe) rs1021731214
NM_001458.5(FLNC):c.7136G>C (p.Gly2379Ala)
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn) rs1334300883
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His) rs1334300883
NM_001458.5(FLNC):c.7142A>G (p.Tyr2381Cys)
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr) rs1554401558
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met) rs1585170543
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala) rs1554401559
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu) rs2128939746
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His) rs1554401561
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser) rs1809007749
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met) rs2128939752
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser) rs1390223951
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr) rs778626535
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys) rs1251048006
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe) rs764034824
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu) rs2128939759
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)
NM_001458.5(FLNC):c.7252-12T>C
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His) rs2128940112
NM_001458.5(FLNC):c.7276_7281del (p.Pro2426_Ala2427del)
NM_001458.5(FLNC):c.7289C>A (p.Ala2430Asp)
NM_001458.5(FLNC):c.728C>G (p.Pro243Arg)
NM_001458.5(FLNC):c.7292T>G (p.Val2431Gly)
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp) rs2128940134
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup) rs1554401762
NM_001458.5(FLNC):c.7318A>G (p.Ile2440Val)
NM_001458.5(FLNC):c.7318A>T (p.Ile2440Phe)
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr) rs764628080
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp) rs1585171621
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro) rs370293647
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr) rs1554401770
NM_001458.5(FLNC):c.7340C>T (p.Pro2447Leu)
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala) rs2128940146
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu) rs1322256692
NM_001458.5(FLNC):c.7348G>A (p.Ala2450Thr)
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp) rs1809071622
NM_001458.5(FLNC):c.7356G>T (p.Glu2452Asp)
NM_001458.5(FLNC):c.7361G>A (p.Cys2454Tyr)
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys) rs2128940160
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly) rs2128940164
NM_001458.5(FLNC):c.7385-3C>A
NM_001458.5(FLNC):c.7385-3C>G
NM_001458.5(FLNC):c.7385-3_7385-2del
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu) rs2128940208
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro) rs775910704
NM_001458.5(FLNC):c.7402T>A (p.Phe2468Ile)
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)
NM_001458.5(FLNC):c.7421G>T (p.Gly2474Val)
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg) rs1563005164
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe) rs2128940229
NM_001458.5(FLNC):c.7439T>G (p.Val2480Gly)
NM_001458.5(FLNC):c.743A>T (p.His248Leu)
NM_001458.5(FLNC):c.7454C>T (p.Ala2485Val)
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser) rs1563005191
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu) rs2128940243
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe) rs200295337
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala) rs1284210024
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr) rs2128940257
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg) rs2128940258
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
NM_001458.5(FLNC):c.7513C>A (p.Pro2505Thr)
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser) rs1809085479
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg) rs1809085479
NM_001458.5(FLNC):c.751A>G (p.Met251Val)
NM_001458.5(FLNC):c.7522G>C (p.Val2508Leu)
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly) rs2128940265
NM_001458.5(FLNC):c.7528G>C (p.Ala2510Pro)
NM_001458.5(FLNC):c.7553G>A (p.Gly2518Asp)
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)
NM_001458.5(FLNC):c.7561+3G>A
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
NM_001458.5(FLNC):c.7562-2_7581dup rs1809097279
NM_001458.5(FLNC):c.7562-3C>G
NM_001458.5(FLNC):c.7562-3C>T rs1358745378
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser) rs749891076
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys) rs377522797
NM_001458.5(FLNC):c.7597G>A (p.Ala2533Thr)
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
NM_001458.5(FLNC):c.7600G>A (p.Gly2534Ser)
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys) rs372504725
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val) rs778822005
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg) rs1809100312
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg) rs1809100312
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp) rs1394723230
NM_001458.5(FLNC):c.7624A>G (p.Ile2542Val)
NM_001458.5(FLNC):c.7625T>C (p.Ile2542Thr)
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met) rs1554401890
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser) rs2128940366
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr) rs200673841
NM_001458.5(FLNC):c.7649T>C (p.Leu2550Pro)
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser) rs1585172407
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala) rs765967888
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu) rs1809104361
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala) rs931678640
NM_001458.5(FLNC):c.7682T>C (p.Val2561Ala)
NM_001458.5(FLNC):c.7690A>C (p.Thr2564Pro)
NM_001458.5(FLNC):c.7690A>T (p.Thr2564Ser)
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile) rs1405868407
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser) rs1554401906
NM_001458.5(FLNC):c.7696A>G (p.Met2566Val)
NM_001458.5(FLNC):c.7697T>C (p.Met2566Thr)
NM_001458.5(FLNC):c.7699G>A (p.Ala2567Thr)
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu) rs1562988843
NM_001458.5(FLNC):c.7703C>G (p.Pro2568Arg)
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr) rs1554401912
NM_001458.5(FLNC):c.7728G>T (p.Lys2576Asn)
NM_001458.5(FLNC):c.7733G>A (p.Gly2578Asp)
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu) rs1809109347
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser) rs1354641654
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe) rs1268909811
NM_001458.5(FLNC):c.7779T>C (p.Thr2593=)
NM_001458.5(FLNC):c.7780+1G>T
NM_001458.5(FLNC):c.7780+3G>C
NM_001458.5(FLNC):c.7781-3C>T rs1444704657
NM_001458.5(FLNC):c.7781-8C>G rs1363938739
NM_001458.5(FLNC):c.7798G>A (p.Gly2600Ser)
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr) rs2128932111
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys) rs1480530077
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala) rs1809143753
NM_001458.5(FLNC):c.7820C>T (p.Ser2607Phe)
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly) rs2128940575
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn) rs976229219
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr) rs1585172975
NM_001458.5(FLNC):c.7858A>T (p.Ser2620Cys)
NM_001458.5(FLNC):c.7862G>C (p.Arg2621Pro)
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys) rs2128940583
NM_001458.5(FLNC):c.7885C>T (p.Pro2629Ser)
NM_001458.5(FLNC):c.7886C>A (p.Pro2629His)
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del) rs767277303
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys) rs1563005954
NM_001458.5(FLNC):c.7907G>A (p.Ser2636Asn)
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile) rs1424306829
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001458.5(FLNC):c.7912G>A (p.Val2638Met)
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met) rs2128940599
NM_001458.5(FLNC):c.7916T>C (p.Val2639Ala)
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp) rs750629528
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala) rs2128940603
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)
NM_001458.5(FLNC):c.7956G>C (p.Gln2652His)
NM_001458.5(FLNC):c.7963T>C (p.Ser2655Pro)
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)
NM_001458.5(FLNC):c.7975G>T (p.Asp2659Tyr)
NM_001458.5(FLNC):c.7979G>A (p.Cys2660Tyr)
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
NM_001458.5(FLNC):c.7990+11G>A
NM_001458.5(FLNC):c.7991-3C>T
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del) rs1809158348
NM_001458.5(FLNC):c.799C>T (p.Pro267Ser)
NM_001458.5(FLNC):c.8002A>G (p.Met2668Val)
NM_001458.5(FLNC):c.8007G>A (p.Met2669Ile)
NM_001458.5(FLNC):c.8009T>C (p.Val2670Ala)
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln) rs112180788
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser) rs1563006093
NM_001458.5(FLNC):c.8026A>G (p.Lys2676Glu)
NM_001458.5(FLNC):c.8027A>G (p.Lys2676Arg)
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)
NM_001458.5(FLNC):c.8042A>G (p.Glu2681Gly)
NM_001458.5(FLNC):c.8050G>A (p.Val2684Met)
NM_001458.5(FLNC):c.8050G>C (p.Val2684Leu)
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala) rs1585173265
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
NM_001458.5(FLNC):c.8067C>G (p.Asn2689Lys)
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln) rs1585173273
NM_001458.5(FLNC):c.8078A>T (p.Asn2693Ile)
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys) rs2128940675
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys) rs2128940691
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu) rs1809164297
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu) rs1809164468
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro) rs2128940703
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met) rs28437296
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser) rs1809165876
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys) rs1809165876
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs) rs1554402084
NM_001458.5(FLNC):c.8141G>A (p.Ser2714Asn)
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe) rs370832402
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu) rs1585173375
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn) rs2128940727
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala) rs770027151
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg) rs2128940731
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu) rs2128940731
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp) rs1563006225
NM_001458.5(FLNC):c.824C>A (p.Pro275His) rs1249075788
NM_001458.5(FLNC):c.835A>G (p.Ile279Val) rs1243812099
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)
NM_001458.5(FLNC):c.847C>T (p.Pro283Ser)
NM_001458.5(FLNC):c.849T>C (p.Pro283=)
NM_001458.5(FLNC):c.850+12C>T
NM_001458.5(FLNC):c.850+4T>C rs368602593
NM_001458.5(FLNC):c.850+4T>G rs368602593
NM_001458.5(FLNC):c.850+5G>A rs2128934199
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln) rs1274480597
NM_001458.5(FLNC):c.860C>T (p.Pro287Leu)
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys) rs1808151858
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg) rs1808151950
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp) rs1329109141
NM_001458.5(FLNC):c.869A>G (p.Asn290Ser)
NM_001458.5(FLNC):c.86C>T (p.Ala29Val) rs2128932114
NM_001458.5(FLNC):c.874G>T (p.Val292Leu) rs1275499234
NM_001458.5(FLNC):c.878_901dup (p.Val300_Gln301insLeuGlnProAlaHisPheThrVal)
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)
NM_001458.5(FLNC):c.886G>T (p.Ala296Ser)
NM_001458.5(FLNC):c.887C>A (p.Ala296Asp)
NM_001458.5(FLNC):c.887C>T (p.Ala296Val) rs2128934235
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys) rs2128932116
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile) rs1562992080
NM_001458.5(FLNC):c.899T>G (p.Val300Gly) rs2128934238
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_001458.5(FLNC):c.907G>A (p.Val303Met) rs1554397562
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr) rs1312282118
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly) rs966097091
NM_001458.5(FLNC):c.914C>T (p.Ala305Val)
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)
NM_001458.5(FLNC):c.934G>A (p.Val312Ile) rs2128934250
NM_001458.5(FLNC):c.935T>G (p.Val312Gly) rs1808156535
NM_001458.5(FLNC):c.946G>C (p.Asp316His)
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr) rs1562992145
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala) rs2128934254
NM_001458.5(FLNC):c.956G>T (p.Gly319Val)
NM_001458.5(FLNC):c.95C>T (p.Ala32Val) rs2128932120
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys) rs1562992158
NM_001458.5(FLNC):c.970G>A (p.Ala324Thr)
NM_001458.5(FLNC):c.97C>T (p.Pro33Ser)
NM_001458.5(FLNC):c.982C>T (p.Pro328Ser) rs1808168813
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys) rs1808169217
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly) rs1808169515
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr) rs2136929850
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val) rs1451321171
NM_001843.4(CNTN1):c.1110+8T>A
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) rs770501938
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) rs1565989995
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) rs1946186464
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr) rs1269192212
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys) rs756198153
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu) rs748101740
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val) rs1945329610
NM_001843.4(CNTN1):c.1334A>T (p.Lys445Met)
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu) rs1337032945
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) rs1946336293
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del) rs2136950735
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) rs745586631
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) rs199754941
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) rs1167071121
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys) rs1945330731
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn) rs1805062496
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val) rs2136952998
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) rs747622764
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) rs770173257
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys) rs1286090767
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val) rs2137007039
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val) rs555223029
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)
NM_001843.4(CNTN1):c.1804+5G>A
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) rs1592357953
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)
NM_001843.4(CNTN1):c.1877G>A (p.Arg626His)
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) rs199886411
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser) rs1555193694
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu) rs1947806765
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser) rs2120504473
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser) rs1948132905
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln) rs2136857338
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu) rs201782849
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=) rs764189993
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu) rs1948790119
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg) rs1355732702
NM_001843.4(CNTN1):c.228-3_228-2del rs1945468731
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp) rs1555199605
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln) rs267603461
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp) rs2120747529
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr) rs771483189
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val) rs1250582749
NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val)
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=)
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly) rs780316987
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser) rs1205621429
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)
NM_001843.4(CNTN1):c.2523+5G>A
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val) rs2120816290
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His) rs781106271
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val) rs1390271155
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro) rs769577018
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly) rs1945470430
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu) rs1253543758
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val) rs1248588484
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly) rs1592428509
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu) rs768617895
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala) rs2121173738
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr) rs145406782
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro) rs758820625
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val) rs1944915906
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)
NM_001843.4(CNTN1):c.497-7C>A rs2136906588
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn) rs1285012875
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu) rs201037986
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly) rs2136817438
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) rs1555182848
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu) rs868602241
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) rs763560467
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala) rs1945827865
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)
NM_001843.4(CNTN1):c.703+4_703+7del
NM_001843.4(CNTN1):c.704-3T>C
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr) rs758956439
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile) rs2136919426
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp) rs1592279096
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys) rs1945970839
NM_001843.4(CNTN1):c.775G>A (p.Val259Met) rs1945970944
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) rs1158555477
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His) rs2136817543
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) rs1487254662
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala) rs1283320182
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) rs756830197
NM_001843.4(CNTN1):c.94+4A>G
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu) rs1945984350
NM_001848.2(COL6A1):c.1568_1575+1dup rs2077817384
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA rs2077768137
NM_001848.3(COL6A1):c.1002+6_1002+89del
NM_001848.3(COL6A1):c.1002+6_1003-135del rs2123472135
NM_001848.3(COL6A1):c.1002G>A (p.Lys334=)
NM_001848.3(COL6A1):c.1003-3C>G rs1171069767
NM_001848.3(COL6A1):c.1003G>T (p.Gly335Trp)
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) rs794727121
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg) rs1569518250
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp) rs142882745
NM_001848.3(COL6A1):c.1052T>G (p.Phe351Cys)
NM_001848.3(COL6A1):c.1056+4A>C rs886043433
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr) rs762443936
NM_001848.3(COL6A1):c.1072C>T (p.Pro358Ser)
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn) rs886042646
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr) rs1603589147
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln) rs144677931
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
NM_001848.3(COL6A1):c.1123G>A (p.Glu375Lys)
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr) rs2123474648
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala) rs2123474665
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
NM_001848.3(COL6A1):c.117C>A (p.Phe39Leu)
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=) rs1423443362
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr) rs983326119
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp) rs772775334
NM_001848.3(COL6A1):c.1226C>A (p.Ala409Glu) rs765826390
NM_001848.3(COL6A1):c.1236+5G>C rs376327142
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1272+3G>A rs2123475120
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser) rs2077783907
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
NM_001848.3(COL6A1):c.131C>T (p.Thr44Ile)
NM_001848.3(COL6A1):c.1335+3G>A
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys) rs762989478
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe) rs375452881
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys) rs1235513102
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg) rs766667205
NM_001848.3(COL6A1):c.1418G>A (p.Gly473Glu)
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp) rs117340427
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr) rs760275915
NM_001848.3(COL6A1):c.14G>A (p.Arg5His) rs1556423460
NM_001848.3(COL6A1):c.1504C>T (p.Pro502Ser)
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu) rs1556428597
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser) rs2123482543
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser) rs2123483067
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu) rs2077817452
NM_001848.3(COL6A1):c.1573C>T (p.Pro525Ser)
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT rs758434455
NM_001848.3(COL6A1):c.1575+2dup rs758434455
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1609A>G (p.Asn537Asp)
NM_001848.3(COL6A1):c.1611+16_1611+17delinsAT
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) rs200023632
NM_001848.3(COL6A1):c.1612-3C>T rs767913216
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg) rs1603593300
NM_001848.3(COL6A1):c.1625A>T (p.Tyr542Phe)
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr) rs1397088680
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
NM_001848.3(COL6A1):c.1659_1667dup (p.Pro555_Asp557dup) rs2123484082
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
NM_001848.3(COL6A1):c.1674+3_1674+6del
NM_001848.3(COL6A1):c.1675-5T>G
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr) rs775182845
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp) rs755214430
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg) rs1359915404
NM_001848.3(COL6A1):c.1740+3G>A
NM_001848.3(COL6A1):c.1740+5G>A
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu) rs1188795991
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
NM_001848.3(COL6A1):c.1765C>T (p.Pro589Ser)
NM_001848.3(COL6A1):c.1768G>A (p.Gly590Arg)
NM_001848.3(COL6A1):c.1769G>A (p.Gly590Glu)
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr) rs2123460260
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
NM_001848.3(COL6A1):c.1813+3_1813+6del
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA rs2077839436
NM_001848.3(COL6A1):c.1814C>T (p.Ser605Phe)
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
NM_001848.3(COL6A1):c.1820G>A (p.Cys607Tyr) rs886042538
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val) rs1222901174
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe) rs1423091612
NM_001848.3(COL6A1):c.1855G>C (p.Val619Leu)
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu) rs150938324
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly) rs1603589342
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu) rs552239546
NM_001848.3(COL6A1):c.1921G>T (p.Val641Phe)
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
NM_001848.3(COL6A1):c.1956+5G>T
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu) rs112104768
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu) rs1260709010
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
NM_001848.3(COL6A1):c.1991A>G (p.Gln664Arg)
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu) rs2123459059
NM_001848.3(COL6A1):c.2024G>C (p.Ser675Thr) rs2077848878
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu) rs373731596
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg) rs2123490353
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.211G>A (p.Asp71Asn)
NM_001848.3(COL6A1):c.2129C>G (p.Thr710Arg)
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup) rs2123490613
NM_001848.3(COL6A1):c.2218C>T (p.Pro740Ser)
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
NM_001848.3(COL6A1):c.2237G>T (p.Ser746Ile)
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
NM_001848.3(COL6A1):c.2250G>A (p.Gln750=)
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
NM_001848.3(COL6A1):c.2251-11_2251-8del
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=) rs1434098396
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr) rs2077853664
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu) rs1203093809
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer) rs2077854422
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC rs2123491106
NM_001848.3(COL6A1):c.2434+14_2434+15inv
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC rs2123491242
NM_001848.3(COL6A1):c.2434+4C>T rs202147670
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2437AAG[1] (p.Lys814del)
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln) rs2123491909
NM_001848.3(COL6A1):c.2464+1G>A rs113290209
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
NM_001848.3(COL6A1):c.2506G>A (p.Gly836Ser)
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val) rs1486288129
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro) rs748327110
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
NM_001848.3(COL6A1):c.2654G>C (p.Arg885Pro)
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro) rs2077862405
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met) rs1226903258
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly) rs766517983
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del) rs2123492948
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
NM_001848.3(COL6A1):c.2742del (p.Asp915fs)
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2782C>A (p.Arg928Ser)
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu) rs769795690
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr) rs1569519253
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val) rs1316734507
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp) rs1603595132
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys) rs201456885
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs) rs766289958
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
NM_001848.3(COL6A1):c.322G>A (p.Gly108Ser)
NM_001848.3(COL6A1):c.340A>C (p.Lys114Gln)
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn) rs1603589594
NM_001848.3(COL6A1):c.376G>A (p.Gly126Ser) rs886043738
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val) rs1300015385
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr) rs1454397058
NM_001848.3(COL6A1):c.424G>A (p.Val142Met) rs144282452
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val) rs2077739763
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
NM_001848.3(COL6A1):c.462T>G (p.Ile154Met)
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg) rs1471465037
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg) rs980266782
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala) rs1309872535
NM_001848.3(COL6A1):c.511G>T (p.Gly171Trp)
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val) rs1385535913
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr) rs2077740453
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr) rs1556424938
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala) rs766184155
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
NM_001848.3(COL6A1):c.569C>T (p.Ala190Val)
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val) rs1273238821
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr) rs2077740811
NM_001848.3(COL6A1):c.588+12_588+13delinsTA rs2123466169
NM_001848.3(COL6A1):c.589-3C>T rs1288681930
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu) rs780638665
NM_001848.3(COL6A1):c.677A>C (p.Glu226Ala)
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
NM_001848.3(COL6A1):c.696C>G (p.Ile232Met)
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr) rs2077743440
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn) rs2123466789
NM_001848.3(COL6A1):c.717+9C>G
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
NM_001848.3(COL6A1):c.720A>G (p.Lys240=) rs147612667
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
NM_001848.3(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.3(COL6A1):c.760-3C>T
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
NM_001848.3(COL6A1):c.805-11_805-5del
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001848.3(COL6A1):c.858+5G>A rs2123470416
NM_001848.3(COL6A1):c.858+5G>T
NM_001848.3(COL6A1):c.859-19_859-18delinsGA
NM_001848.3(COL6A1):c.85G>A (p.Val29Met) rs766057159
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu) rs2077761954
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala) rs777764932
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
NM_001848.3(COL6A1):c.894G>C (p.Gln298His) rs371989252
NM_001848.3(COL6A1):c.904-10G>A rs794727027
NM_001848.3(COL6A1):c.904-39A>T rs1569518138
NM_001848.3(COL6A1):c.904-3T>G
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val) rs2077763346
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
NM_001848.3(COL6A1):c.930+20G>A
NM_001848.3(COL6A1):c.938G>T (p.Arg313Met)
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu) rs1556425679
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val) rs1556425679
NM_001848.3(COL6A1):c.957+4A>T
NM_001848.3(COL6A1):c.958-3_958-2del
NM_001848.3(COL6A1):c.96G>C (p.Gln32His)
NM_001848.3(COL6A1):c.98-6G>A rs886042599
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
NM_001849.3(COL6A2):c.-91_3071dup
NM_001849.4(COL6A2):c.1004A>G (p.Lys335Arg)
NM_001849.4(COL6A2):c.1007T>C (p.Leu336Pro)
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg) rs2123631275
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
NM_001849.4(COL6A2):c.1015A>G (p.Ile339Val) rs2123631317
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val) rs1568930426
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg) rs2078490056
NM_001849.4(COL6A2):c.1046_1053+1del
NM_001849.4(COL6A2):c.1053+3A>T rs1555873388
NM_001849.4(COL6A2):c.1053+4dup
NM_001849.4(COL6A2):c.1055delG rs1555873507
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu) rs199929757
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser) rs1555873523
NM_001849.4(COL6A2):c.1079C>G (p.Ala360Gly) rs2078500027
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val) rs2078500027
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp) rs374673302
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val) rs1601229481
NM_001849.4(COL6A2):c.1116+6T>G
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg) rs753834270
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1]) rs2123635719
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser) rs2078399168
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
NM_001849.4(COL6A2):c.115+5C>T
NM_001849.4(COL6A2):c.115+6A>G rs886042882
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
NM_001849.4(COL6A2):c.1165G>A (p.Ala389Thr)
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala) rs756966358
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val) rs1555873827
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg) rs1568931875
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly) rs1248584370
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu) rs371383704
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg) rs2123637568
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu) rs761030439
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=) rs144136807
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys) rs761330909
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del) rs2078532600
NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) rs535007570
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser) rs1269914621
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
NM_001849.4(COL6A2):c.1395+5G>C rs1373123496
NM_001849.4(COL6A2):c.1396-26_1396-10del rs1601237036
NM_001849.4(COL6A2):c.1396-8_1396-5del
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn) rs1464567484
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu) rs746541506
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala) rs2123614177
NM_001849.4(COL6A2):c.1415G>C (p.Gly472Ala)
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His) rs1472257957
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp) rs2123645059
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
NM_001849.4(COL6A2):c.1458+3_1458+6del rs765084926
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His) rs2078559618
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly) rs727502829
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro) rs61735828
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser) rs778917725
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del) rs2123646706
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
NM_001849.4(COL6A2):c.1521+4C>T rs886043036
NM_001849.4(COL6A2):c.1522-3C>T
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala) rs756315481
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His) rs2078576778
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly) rs769563817
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser) rs2078577021
NM_001849.4(COL6A2):c.1572+5G>A
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
NM_001849.4(COL6A2):c.1601G>A (p.Gly534Asp)
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val) rs2123650884
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys) rs2123650926
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del) rs1555874762
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3]) rs773493556
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser) rs2078589816
NM_001849.4(COL6A2):c.1671+4_1671+7del rs2078589929
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=) rs2078589880
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn) rs1555871311
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr) rs1035008109
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser) rs1172190604
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg) rs2078631679
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser) rs2078397289
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu) rs2123658612
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
NM_001849.4(COL6A2):c.1718_1719inv (p.Gly573Val)
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
NM_001849.4(COL6A2):c.1735G>C (p.Gly579Arg)
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr) rs779979272
NM_001849.4(COL6A2):c.1750C>T (p.Pro584Ser) rs779979272
NM_001849.4(COL6A2):c.1751_1770+24dup rs2078635959
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu) rs1568938716
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys) rs142709940
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
NM_001849.4(COL6A2):c.1793T>C (p.Val598Ala) rs2078643208
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro) rs147892526
NM_001849.4(COL6A2):c.1802C>T (p.Thr601Ile)
NM_001849.4(COL6A2):c.1805G>A (p.Cys602Tyr)
NM_001849.4(COL6A2):c.1814G>A (p.Cys605Tyr)
NM_001849.4(COL6A2):c.1816+3G>A
NM_001849.4(COL6A2):c.1816+6G>A
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn) rs747602311
NM_001849.4(COL6A2):c.1817-16C>G
NM_001849.4(COL6A2):c.1817-2dup
NM_001849.4(COL6A2):c.1817-3C>A rs112645828
NM_001849.4(COL6A2):c.1817-3C>G rs112645828
NM_001849.4(COL6A2):c.1817-3C>T rs112645828
NM_001849.4(COL6A2):c.1832G>A (p.Cys611Tyr)
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu) rs746193653
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn) rs2078648587
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr) rs2123662036
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del) rs1568939674
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala) rs141919484
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly) rs141919484
NM_001849.4(COL6A2):c.1915A>G (p.Ile639Val)
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
NM_001849.4(COL6A2):c.1969+4A>G rs775997945
NM_001849.4(COL6A2):c.1970-3C>T rs201879417
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys) rs727502830
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro) rs558005986
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met) rs2123663062
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe) rs2078406730
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg) rs1245904841
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn) rs886042884
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
NM_001849.4(COL6A2):c.201C>T (p.Leu67=) rs1601216910
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
NM_001849.4(COL6A2):c.2043C>G (p.Ile681Met)
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe) rs1258904789
NM_001849.4(COL6A2):c.2051T>C (p.Leu684Pro)
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp) rs564873527
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del) rs2078657129
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln) rs377376395
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
NM_001849.4(COL6A2):c.20C>T (p.Ser7Phe)
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) rs794727417
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro) rs2123663738
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp) rs1555875708
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val) rs1555875708
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met) rs2123663867
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu) rs1555875749
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser) rs1555875759
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.219C>G (p.Phe73Leu)
NM_001849.4(COL6A2):c.2207A>C (p.Asp736Ala)
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly) rs2078660025
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr) rs2123664136
NM_001849.4(COL6A2):c.220_231dup (p.Phe77_Ile78insValProGlnPhe)
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp) rs2123664140
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn) rs375884809
NM_001849.4(COL6A2):c.2253C>A (p.Asp751Glu)
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile) rs886042625
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
NM_001849.4(COL6A2):c.2297A>G (p.Lys766Arg)
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His) rs2078662932
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser) rs1601251344
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
NM_001849.4(COL6A2):c.2325C>G (p.Ile775Met)
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu) rs764165623
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met) rs1194893303
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro) rs75120695
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser) rs746466184
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn) rs1273249543
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro) rs1568940864
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del) rs747378168
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn) rs1312736604
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr) rs749043206
NM_001849.4(COL6A2):c.2423-3C>T
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
NM_001849.4(COL6A2):c.2433C>G (p.Ile811Met)
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
NM_001849.4(COL6A2):c.2462-3C>T rs766469768
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala) rs1259128571
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr) rs778134390
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro) rs2078765932
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg) rs2078765932
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
NM_001849.4(COL6A2):c.2512C>G (p.Leu838Val)
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro) rs1568947214
NM_001849.4(COL6A2):c.2519G>A (p.Gly840Asp) rs2123454544
NM_001849.4(COL6A2):c.2537A>T (p.Glu846Val)
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val) rs2078767000
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly) rs759689002
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala) rs886044689
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla) rs753952104
NM_001849.4(COL6A2):c.257A>C (p.Tyr86Ser)
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys) rs200488881
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys) rs865872231
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg) rs770956606
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
NM_001849.4(COL6A2):c.267G>C (p.Gln89His) rs1452398707
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn) rs112139050
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
NM_001849.4(COL6A2):c.2716G>A (p.Glu906Lys)
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
NM_001849.4(COL6A2):c.2731C>G (p.Leu911Val)
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del) rs777696289
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro) rs1290912034
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr) rs2123455277
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu) rs398123650
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg) rs2123455354
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln) rs140419176
NM_001849.4(COL6A2):c.2776_2784dup (p.Ile928_Val929insAsnAlaIle)
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu) rs1426096612
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys) rs1321329142
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu) rs374384263
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
NM_001849.4(COL6A2):c.2825T>C (p.Leu942Pro)
NM_001849.4(COL6A2):c.2833G>A (p.Val945Met)
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu) rs2123455553
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg) rs367980010
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup) rs775193167
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe) rs111630733
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg) rs147670858
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met) rs147670858
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp) rs1274304291
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro) rs2123455695
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn) rs373184224
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala) rs771847588
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser) rs201188174
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup) rs1568948073
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met) rs763443381
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu) rs763443381
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro) rs754429992
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.292G>A (p.Gly98Ser)
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup) rs762259160
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val) rs781544781
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His) rs2123456038
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=) rs6652
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu) rs1555877365
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del) rs750794022
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
NM_001849.4(COL6A2):c.3000G>C (p.Lys1000Asn)
NM_001849.4(COL6A2):c.3005A>C (p.Tyr1002Ser)
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn) rs1601270126
NM_001849.4(COL6A2):c.300C>G (p.His100Gln) rs765941470
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del) rs2078776370
NM_001849.4(COL6A2):c.3034G>T (p.Asp1012Tyr)
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys) rs2078776827
NM_001849.4(COL6A2):c.3058T>G (p.Ter1020Glu)
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
NM_001849.4(COL6A2):c.3059_*1dup (p.Ter1020=)
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg) rs1365013453
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser) rs561771249
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile) rs2078397134
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr) rs982087527
NM_001849.4(COL6A2):c.415G>T (p.Ala139Ser)
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly) rs749711324
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr) rs1568925911
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
NM_001849.4(COL6A2):c.445C>T (p.Arg149Cys)
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
NM_001849.4(COL6A2):c.454G>A (p.Gly152Ser)
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn) rs1216448596
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del) rs2078413886
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu) rs376291264
NM_001849.4(COL6A2):c.565G>A (p.Ala189Thr)
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser) rs765361834
NM_001849.4(COL6A2):c.566C>T (p.Ala189Val)
NM_001849.4(COL6A2):c.582G>C (p.Gln194His) rs1601218622
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr) rs2078398153
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg) rs760395633
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met) rs760395633
NM_001849.4(COL6A2):c.626A>T (p.His209Leu) rs1413478268
NM_001849.4(COL6A2):c.627C>G (p.His209Gln) rs545218705
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
NM_001849.4(COL6A2):c.655A>G (p.Met219Val)
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met) rs773058625
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro) rs1208218678
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe) rs2078418524
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del) rs775693562
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
NM_001849.4(COL6A2):c.679G>C (p.Asp227His) rs35881321
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
NM_001849.4(COL6A2):c.735+6T>C rs2078423797
NM_001849.4(COL6A2):c.736-6T>C
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile) rs2123612816
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
NM_001849.4(COL6A2):c.745G>A (p.Val249Met) rs1454103225
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
NM_001849.4(COL6A2):c.767G>T (p.Gly256Val)
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln) rs753370790
NM_001849.4(COL6A2):c.801+2dup rs2123620848
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg) rs778546141
NM_001849.4(COL6A2):c.851G>A (p.Arg284Lys)
NM_001849.4(COL6A2):c.854A>G (p.Gln285Arg)
NM_001849.4(COL6A2):c.855+38_856-32del
NM_001849.4(COL6A2):c.855G>A (p.Gln285=)
NM_001849.4(COL6A2):c.856-24_856-10del
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr) rs1568928972
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu) rs2123626180
NM_001849.4(COL6A2):c.900+5G>A
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu) rs1472672400
NM_001849.4(COL6A2):c.927+5G>C
NM_001849.4(COL6A2):c.927+6G>A
NM_001849.4(COL6A2):c.949C>T (p.Arg317Cys)
NM_001849.4(COL6A2):c.954+3A>G rs2123628260
NM_001849.4(COL6A2):c.955-3C>G rs1208931749
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val) rs1444127463
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
NM_001849.4(COL6A2):c.999+6G>A
NM_001927.4(DES):c.*295G>A rs1954536782
NM_001927.4(DES):c.-54C>T rs1954355610
NM_001927.4(DES):c.-74C>T rs886055653
NM_001927.4(DES):c.1000G>A (p.Glu334Lys) rs1227068284
NM_001927.4(DES):c.1002G>T (p.Glu334Asp)
NM_001927.4(DES):c.1004T>C (p.Ile335Thr) rs1954429245
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1009G>T (p.Ala337Ser) rs59962885
NM_001927.4(DES):c.100G>A (p.Val34Met)
NM_001927.4(DES):c.1010C>A (p.Ala337Asp) rs1954429477
NM_001927.4(DES):c.1017G>C (p.Lys339Asn) rs1954429823
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1022C>T (p.Thr341Ile) rs1338606921
NM_001927.4(DES):c.1023+5G>A
NM_001927.4(DES):c.1023+5G>C
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
NM_001927.4(DES):c.1043A>T (p.Gln348Leu) rs1411703397
NM_001927.4(DES):c.1045A>G (p.Met349Val)
NM_001927.4(DES):c.1049G>T (p.Arg350Leu) rs57965306
NM_001927.4(DES):c.104T>C (p.Phe35Ser) rs1575012999
NM_001927.4(DES):c.105C>G (p.Phe35Leu) rs768166041
NM_001927.4(DES):c.1062C>A (p.Asp354Glu)
NM_001927.4(DES):c.1063C>G (p.Arg355Gly) rs762808690
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.1084G>A (p.Gly362Ser)
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1092G>T (p.Gln364His)
NM_001927.4(DES):c.1093G>C (p.Asp365His)
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val) rs2125168708
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys) rs2125168717
NM_001927.4(DES):c.1106G>A (p.Arg369His)
NM_001927.4(DES):c.1106G>T (p.Arg369Leu) rs1168604493
NM_001927.4(DES):c.110G>T (p.Arg37Leu) rs1954363342
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del) rs2125168730
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
NM_001927.4(DES):c.1119A>C (p.Glu373Asp) rs780628142
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
NM_001927.4(DES):c.1126C>G (p.His376Asp)
NM_001927.4(DES):c.1127A>G (p.His376Arg)
NM_001927.4(DES):c.1133A>G (p.Lys378Arg) rs202010947
NM_001927.4(DES):c.1144G>A (p.Ala382Thr) rs1954441688
NM_001927.4(DES):c.1147C>A (p.Arg383Ser) rs748945548
NM_001927.4(DES):c.1148G>C (p.Arg383Pro) rs1292042317
NM_001927.4(DES):c.1151A>C (p.His384Pro)
NM_001927.4(DES):c.1153C>G (p.Leu385Val) rs1393155504
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.1158_1160del (p.Glu387del) rs1559353314
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) rs865961434
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
NM_001927.4(DES):c.116G>A (p.Gly39Asp)
NM_001927.4(DES):c.116G>C (p.Gly39Ala)
NM_001927.4(DES):c.1172T>C (p.Leu391Pro) rs1954443135
NM_001927.4(DES):c.1172T>G (p.Leu391Arg) rs1954443135
NM_001927.4(DES):c.1175T>G (p.Leu392Arg)
NM_001927.4(DES):c.1180G>T (p.Val394Leu) rs776786349
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1193T>C (p.Leu398Pro) rs796115330
NM_001927.4(DES):c.1193del (p.Leu398fs) rs2125168879
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1205T>G (p.Ile402Ser) rs1553603571
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
NM_001927.4(DES):c.1213T>C (p.Tyr405His)
NM_001927.4(DES):c.1218G>T (p.Arg406=)
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) rs1553603573
NM_001927.4(DES):c.1228G>A (p.Glu410Lys) rs2125168940
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
NM_001927.4(DES):c.1238A>G (p.Glu413Gly) rs1954445270
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) rs751942358
NM_001927.4(DES):c.1243del (p.Arg415fs) rs1954445390
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1245G>A (p.Arg415=)
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) rs62635763
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
NM_001927.4(DES):c.1262A>G (p.Gln421Arg) rs756613339
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr) rs1954488237
NM_001927.4(DES):c.1285del (p.Arg429fs) rs1954488513
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1288G>A (p.Glu430Lys)
NM_001927.4(DES):c.1288G>C (p.Glu430Gln) rs1042793960
NM_001927.4(DES):c.1289-3C>T
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
NM_001927.4(DES):c.130G>A (p.Gly44Ser) rs1064794869
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) rs878854471
NM_001927.4(DES):c.1312T>G (p.Ser438Ala) rs1553603818
NM_001927.4(DES):c.1313C>A (p.Ser438Tyr)
NM_001927.4(DES):c.131G>T (p.Gly44Val) rs1954364360
NM_001927.4(DES):c.1322A>C (p.His441Pro)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1323T>G (p.His441Gln) rs751325263
NM_001927.4(DES):c.1324A>C (p.Thr442Pro) rs794728995
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) rs1060503171
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
NM_001927.4(DES):c.1364A>T (p.Asp455Val) rs2125172066
NM_001927.4(DES):c.1365del (p.Asp455fs)
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1371+1G>T
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1371+3A>T
NM_001927.4(DES):c.1372-1G>A
NM_001927.4(DES):c.1372-2A>G
NM_001927.4(DES):c.1372-3C>T
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
NM_001927.4(DES):c.1390C>T (p.Gln464Ter) rs2125172262
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) rs1060503172
NM_001927.4(DES):c.1409T>C (p.Leu470Pro) rs1954528633
NM_001927.4(DES):c.140G>T (p.Ser47Ile) rs2125165917
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) rs794728991
NM_001927.4(DES):c.141C>A (p.Ser47Arg) rs749028181
NM_001927.4(DES):c.152C>A (p.Ser51Tyr)
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.155G>A (p.Arg52His) rs1372689272
NM_001927.4(DES):c.157G>A (p.Val53Met) rs1393972560
NM_001927.4(DES):c.157G>T (p.Val53Leu) rs1393972560
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
NM_001927.4(DES):c.166G>T (p.Val56Leu)
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
NM_001927.4(DES):c.176C>T (p.Thr59Met) rs773826073
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.17C>T (p.Ser6Leu) rs1214936508
NM_001927.4(DES):c.182G>A (p.Gly61Asp) rs1447436485
NM_001927.4(DES):c.185G>C (p.Gly62Ala)
NM_001927.4(DES):c.188C>T (p.Ala63Val)
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.208C>T (p.Arg70Trp) rs2125166022
NM_001927.4(DES):c.209G>A (p.Arg70Gln)
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
NM_001927.4(DES):c.214A>T (p.Ser72Cys)
NM_001927.4(DES):c.218G>T (p.Arg73Leu) rs752518966
NM_001927.4(DES):c.221T>A (p.Leu74Gln) rs1164195329
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
NM_001927.4(DES):c.230C>T (p.Thr77Ile) rs1392710887
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
NM_001927.4(DES):c.236C>A (p.Thr79Lys)
NM_001927.4(DES):c.236C>T (p.Thr79Met)
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
NM_001927.4(DES):c.245C>T (p.Ser82Phe) rs1358038961
NM_001927.4(DES):c.247T>C (p.Tyr83His) rs1954368990
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
NM_001927.4(DES):c.254C>T (p.Ala85Val)
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
NM_001927.4(DES):c.269A>C (p.Asp90Ala) rs1954369708
NM_001927.4(DES):c.269A>T (p.Asp90Val) rs1954369708
NM_001927.4(DES):c.275C>T (p.Ser92Leu) rs1954369865
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
NM_001927.4(DES):c.281C>T (p.Ala94Val)
NM_001927.4(DES):c.284A>T (p.Asp95Val) rs1954370194
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
NM_001927.4(DES):c.28C>A (p.Arg10Ser) rs1196125127
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
NM_001927.4(DES):c.307A>G (p.Thr103Ala)
NM_001927.4(DES):c.310A>G (p.Thr104Ala) rs1559352310
NM_001927.4(DES):c.311C>G (p.Thr104Arg) rs980849177
NM_001927.4(DES):c.311C>T (p.Thr104Met) rs980849177
NM_001927.4(DES):c.314G>T (p.Arg105Leu) rs1406795636
NM_001927.4(DES):c.319A>G (p.Asn107Asp) rs2125166213
NM_001927.4(DES):c.31G>A (p.Val11Met)
NM_001927.4(DES):c.31G>T (p.Val11Leu)
NM_001927.4(DES):c.320A>C (p.Asn107Thr) rs1156440628
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.323A>G (p.Glu108Gly) rs1954371679
NM_001927.4(DES):c.325A>G (p.Lys109Glu) rs1954371825
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.32T>C (p.Val11Ala)
NM_001927.4(DES):c.334C>G (p.Leu112Val)
NM_001927.4(DES):c.335T>G (p.Leu112Arg) rs1954372144
NM_001927.4(DES):c.341A>G (p.Glu114Gly) rs2125166251
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
NM_001927.4(DES):c.344T>C (p.Leu115Pro) rs2125166259
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.352C>A (p.Arg118Ser) rs1188232371
NM_001927.4(DES):c.352C>T (p.Arg118Cys) rs1188232371
NM_001927.4(DES):c.358G>C (p.Ala120Pro) rs794728996
NM_001927.4(DES):c.359C>A (p.Ala120Asp) rs1954373010
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.367A>C (p.Ile123Leu)
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
NM_001927.4(DES):c.371A>C (p.Glu124Ala) rs564121737
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.379C>G (p.Arg127Gly) rs868157645
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.382T>C (p.Phe128Leu)
NM_001927.4(DES):c.386T>G (p.Leu129Arg) rs1954374163
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
NM_001927.4(DES):c.404C>G (p.Ala135Gly) rs546741834
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
NM_001927.4(DES):c.410C>A (p.Ala137Asp) rs775115627
NM_001927.4(DES):c.415G>A (p.Glu139Lys) rs763769862
NM_001927.4(DES):c.418G>A (p.Val140Met) rs1377068684
NM_001927.4(DES):c.418G>C (p.Val140Leu) rs1377068684
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.427C>G (p.Leu143Val) rs1954376231
NM_001927.4(DES):c.428T>C (p.Leu143Pro) rs1419950518
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
NM_001927.4(DES):c.434G>A (p.Gly145Asp) rs1553603267
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
NM_001927.4(DES):c.43C>A (p.Arg15Ser) rs756390565
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
NM_001927.4(DES):c.43C>T (p.Arg15Cys) rs756390565
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.466G>C (p.Glu156Gln) rs765471098
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
NM_001927.4(DES):c.467A>T (p.Glu156Val) rs2125166482
NM_001927.4(DES):c.46C>A (p.Arg16Ser) rs60798368
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.473A>T (p.Glu158Val) rs1085307571
NM_001927.4(DES):c.481G>A (p.Glu161Lys)
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
NM_001927.4(DES):c.488G>A (p.Arg163Gln) rs1457012198
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup) rs1954378812
NM_001927.4(DES):c.494A>G (p.Gln165Arg) rs1369044757
NM_001927.4(DES):c.496G>A (p.Val166Met)
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001927.4(DES):c.500A>T (p.Glu167Val)
NM_001927.4(DES):c.501G>T (p.Glu167Asp) rs1277110592
NM_001927.4(DES):c.503T>G (p.Val168Gly)
NM_001927.4(DES):c.50C>A (p.Thr17Asn) rs1954360300
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
NM_001927.4(DES):c.515A>C (p.Gln172Pro) rs2125166557
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
NM_001927.4(DES):c.518G>A (p.Arg173His)
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
NM_001927.4(DES):c.523C>T (p.Arg175Cys)
NM_001927.4(DES):c.529G>A (p.Asp177Asn) rs1057524813
NM_001927.4(DES):c.52T>A (p.Phe18Ile)
NM_001927.4(DES):c.530A>C (p.Asp177Ala)
NM_001927.4(DES):c.531C>A (p.Asp177Glu)
NM_001927.4(DES):c.536A>T (p.Glu179Val)
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
NM_001927.4(DES):c.539G>T (p.Arg180Leu)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del) rs1954382461
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
NM_001927.4(DES):c.546C>G (p.Asn182Lys)
NM_001927.4(DES):c.548T>C (p.Leu183Pro)
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
NM_001927.4(DES):c.554A>T (p.Asp185Val)
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
NM_001927.4(DES):c.556G>C (p.Asp186His)
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) rs878854473
NM_001927.4(DES):c.558C>G (p.Asp186Glu) rs1575013561
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.560T>C (p.Leu187Pro) rs1248833348
NM_001927.4(DES):c.564G>T (p.Gln188His)
NM_001927.4(DES):c.571A>G (p.Lys191Glu) rs1483093429
NM_001927.4(DES):c.575C>T (p.Ala192Val) rs889191100
NM_001927.4(DES):c.586GAG[1] (p.Glu197del) rs1954405702
NM_001927.4(DES):c.59G>A (p.Gly20Glu) rs2125165738
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.607G>A (p.Glu203Lys) rs2125167376
NM_001927.4(DES):c.610G>A (p.Ala204Thr) rs1575014034
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
NM_001927.4(DES):c.629C>T (p.Ala210Val) rs1060503169
NM_001927.4(DES):c.62C>A (p.Ala21Asp) rs755107287
NM_001927.4(DES):c.639+4A>G
NM_001927.4(DES):c.639+5G>A
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.640-3C>T
NM_001927.4(DES):c.640G>T (p.Asp214Tyr) rs1954409882
NM_001927.4(DES):c.643G>C (p.Val215Leu)
NM_001927.4(DES):c.650C>T (p.Ala217Val)
NM_001927.4(DES):c.658C>G (p.Leu220Val)
NM_001927.4(DES):c.65C>T (p.Pro22Leu)
NM_001927.4(DES):c.664C>G (p.Arg222Gly) rs374687448
NM_001927.4(DES):c.665G>T (p.Arg222Leu)
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His) rs1954411290
NM_001927.4(DES):c.680G>T (p.Arg227Leu) rs141486420
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
NM_001927.4(DES):c.694C>G (p.Leu232Val)
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.715C>T (p.Leu239Phe)
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
NM_001927.4(DES):c.718A>G (p.Lys240Glu) rs1954413354
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.734A>G (p.Glu245Gly) rs1575014243
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001927.4(DES):c.735+3A>T rs267607483
NM_001927.4(DES):c.735+6C>A
NM_001927.4(DES):c.735+6C>T rs1302528006
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735_735+3dup rs1954413969
NM_001927.4(DES):c.736-2A>T
NM_001927.4(DES):c.736-3C>A
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
NM_001927.4(DES):c.738G>C (p.Glu246Asp) rs1954417703
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
NM_001927.4(DES):c.742C>T (p.Arg248Cys) rs772117708
NM_001927.4(DES):c.743G>A (p.Arg248His) rs375906682
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.749T>C (p.Leu250Ser)
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup) rs1287075970
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
NM_001927.4(DES):c.761T>G (p.Leu254Arg) rs1559352926
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.770A>G (p.Gln257Arg) rs1954418582
NM_001927.4(DES):c.775G>A (p.Val259Ile)
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.788T>C (p.Met263Thr)
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
NM_001927.4(DES):c.793A>C (p.Met265Leu)
NM_001927.4(DES):c.793A>G (p.Met265Val)
NM_001927.4(DES):c.796T>C (p.Ser266Pro) rs1342331264
NM_001927.4(DES):c.79G>C (p.Gly27Arg) rs727504877
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.80G>A (p.Gly27Asp) rs1575012966
NM_001927.4(DES):c.811A>T (p.Thr271Ser) rs2125167886
NM_001927.4(DES):c.817G>C (p.Ala273Pro)
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.823A>C (p.Arg275=)
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.825G>A (p.Arg275=)
NM_001927.4(DES):c.826G>A (p.Asp276Asn) rs1436186019
NM_001927.4(DES):c.829_831del (p.Ile277del)
NM_001927.4(DES):c.830T>A (p.Ile277Asn) rs1459036752
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
NM_001927.4(DES):c.833G>C (p.Arg278Pro) rs761475402
NM_001927.4(DES):c.839A>G (p.Gln280Arg) rs750160975
NM_001927.4(DES):c.840G>C (p.Gln280His) rs1954420895
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.850A>G (p.Ile284Val)
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
NM_001927.4(DES):c.86C>T (p.Pro29Leu) rs1378987625
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
NM_001927.4(DES):c.886T>C (p.Tyr296His) rs2125167990
NM_001927.4(DES):c.897+13_897+14delinsCT
NM_001927.4(DES):c.897+6T>G rs1954422546
NM_001927.4(DES):c.897G>A (p.Lys299=)
NM_001927.4(DES):c.898G>A (p.Val300Met) rs2125168133
NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)
NM_001927.4(DES):c.8A>G (p.Gln3Arg) rs1954358286
NM_001927.4(DES):c.904G>C (p.Asp302His)
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
NM_001927.4(DES):c.924C>A (p.Asn308Lys)
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
NM_001927.4(DES):c.932A>G (p.Asn311Ser)
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.944G>T (p.Arg315Leu)
NM_001927.4(DES):c.953A>G (p.Lys318Arg)
NM_001927.4(DES):c.961A>G (p.Met321Val) rs1954427673
NM_001927.4(DES):c.962T>A (p.Met321Lys)
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.977A>G (p.His326Arg) rs2125168243
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) rs1064795298
NM_001927.4(DES):c.992A>C (p.Tyr331Ser) rs1954428602
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
NM_001927.4(DES):c.995C>T (p.Thr332Ile) rs368453327
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
NM_001927.4(DES):c.998G>T (p.Cys333Phe)
NM_001953.5(TYMP):c.-20C>T rs1040337014
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1081T>C (p.Cys361Arg) rs773643115
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) rs1240133140
NM_001953.5(TYMP):c.1187C>T (p.Pro396Leu)
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) rs2069348232
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) rs28931613
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.135C>T (p.Asp45=) rs1035604323
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) rs863224256
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)
NM_001953.5(TYMP):c.402G>C (p.Ala134=) rs747718279
NM_001953.5(TYMP):c.418-7C>T rs2069479747
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-6C>G rs1323542953
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) rs1412132331
NM_002465.4(MYBPC1):c.2510T>G (p.Val837Gly) rs1555250509
NM_002465.4(MYBPC1):c.608+5C>T
NM_002469.3(MYF6):c.104C>T (p.Pro35Leu) rs2121343603
NM_002469.3(MYF6):c.145C>G (p.Pro49Ala)
NM_002469.3(MYF6):c.176A>T (p.Glu59Val) rs1332444958
NM_002469.3(MYF6):c.183T>G (p.His61Gln) rs776368255
NM_002469.3(MYF6):c.273dup (p.Thr92fs) rs768710318
NM_002469.3(MYF6):c.280C>T (p.Arg94Trp) rs1188507871
NM_002469.3(MYF6):c.352C>G (p.Arg118Gly) rs34563783
NM_002469.3(MYF6):c.459G>C (p.Gln153His) rs1868399214
NM_002469.3(MYF6):c.511C>G (p.Gln171Glu) rs1013493242
NM_002469.3(MYF6):c.587G>A (p.Gly196Glu) rs750182640
NM_002469.3(MYF6):c.691C>G (p.Arg231Gly) rs1408693660
NM_002478.5(MYOD1):c.607C>G (p.Arg203Gly) rs2133764481
NM_002488.4(NDUFA2):c.-51C>A rs886060016
NM_002488.5(NDUFA2):c.135G>A (p.Lys45=) rs745399748
NM_002488.5(NDUFA2):c.26G>T (p.Gly9Val) rs1255776529
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.*88T>A rs1740746273
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.3G>A (p.Met1Ile)
NM_002495.4(NDUFS4):c.506G>C (p.Arg169Thr) rs768080528
NM_002495.4(NDUFS4):c.5C>A (p.Ala2Glu) rs148595893
NM_002495.4(NDUFS4):c.9G>T (p.Ala3=) rs1329465366
NM_002496.3(NDUFS8):c.-98G>A rs886048591
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.1420C>A (p.Leu474Ile) rs1555453653
NM_002693.3(POLG):c.1433+5C>T rs924516946
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1570C>G (p.Pro524Ala) rs577476988
NM_002693.3(POLG):c.1787T>G (p.Met596Arg)
NM_002693.3(POLG):c.1811C>T (p.Ala604Val) rs1433922299
NM_002693.3(POLG):c.2059A>G (p.Ile687Val) rs796052881
NM_002693.3(POLG):c.2074GAA[1] (p.Glu693del) rs760784347
NM_002693.3(POLG):c.2094A>C (p.Glu698Asp) rs2152063213
NM_002693.3(POLG):c.2255T>C (p.Leu752Pro) rs2055426653
NM_002693.3(POLG):c.2363_2374del (p.Gly788_Leu792delinsVal)
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.2485C>T (p.Pro829Ser) rs906230544
NM_002693.3(POLG):c.2530G>A (p.Val844Met) rs1555452881
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3374T>A (p.Ile1125Lys)
NM_002693.3(POLG):c.3393C>G (p.Ile1131Met)
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3488T>A (p.Met1163Lys)
NM_002693.3(POLG):c.729C>A (p.Asp243Glu) rs757917194
NM_002693.3(POLG):c.975dup (p.Thr326fs)
NM_002936.6(RNASEH1):c.526C>T (p.Leu176Phe)
NM_002936.6(RNASEH1):c.532G>A (p.Gly178Arg)
NM_003000.3(SDHB):c.193C>T (p.Leu65Phe) rs786202185
NM_003000.3(SDHB):c.379A>C (p.Ile127Leu) rs201372280
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser) rs1553177740
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala) rs1433760506
NM_003002.4(SDHD):c.119T>C (p.Ile40Thr) rs1592778916
NM_003002.4(SDHD):c.167A>G (p.His56Arg) rs1555186817
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro) rs1592780294
NM_003002.4(SDHD):c.175T>G (p.Ser59Ala)
NM_003002.4(SDHD):c.224T>C (p.Leu75Ser) rs1060503777
NM_003002.4(SDHD):c.233G>T (p.Gly78Val) rs1865688426
NM_003002.4(SDHD):c.268_269delinsTT (p.Ala90Leu) rs1555187033
NM_003002.4(SDHD):c.281C>T (p.Ser94Phe) rs199754684
NM_003002.4(SDHD):c.28G>A (p.Val10Ile) rs1555186671
NM_003002.4(SDHD):c.315-7_315-5delinsAAA rs1060503775
NM_003002.4(SDHD):c.316G>A (p.Gly106Ser)
NM_003002.4(SDHD):c.319C>T (p.Leu107Phe) rs1209781530
NM_003002.4(SDHD):c.332T>C (p.Val111Ala) rs1592786183
NM_003002.4(SDHD):c.386T>C (p.Leu129Ser) rs201726097
NM_003002.4(SDHD):c.436G>A (p.Asp146Asn) rs1592786384
NM_003002.4(SDHD):c.53-6C>A rs757454290
NM_003283.6(TNNT1):c.115C>A (p.Arg39Ser)
NM_003283.6(TNNT1):c.116G>A (p.Arg39His) rs1599891643
NM_003283.6(TNNT1):c.11C>T (p.Thr4Ile) rs1568849957
NM_003283.6(TNNT1):c.129-5C>G rs997219637
NM_003283.6(TNNT1):c.139G>A (p.Val47Met) rs1599884701
NM_003283.6(TNNT1):c.146C>G (p.Pro49Arg)
NM_003283.6(TNNT1):c.157C>T (p.Pro53Ser) rs755269853
NM_003283.6(TNNT1):c.16G>A (p.Glu6Lys) rs1599896616
NM_003283.6(TNNT1):c.192T>G (p.Asp64Glu)
NM_003283.6(TNNT1):c.193-3C>T
NM_003283.6(TNNT1):c.200A>C (p.His67Pro) rs1555858107
NM_003283.6(TNNT1):c.200A>G (p.His67Arg) rs1555858107
NM_003283.6(TNNT1):c.207G>T (p.Lys69Asn) rs2085449480
NM_003283.6(TNNT1):c.263A>G (p.Gln88Arg) rs2147254988
NM_003283.6(TNNT1):c.26A>G (p.Tyr9Cys) rs1449981150
NM_003283.6(TNNT1):c.301G>A (p.Glu101Lys)
NM_003283.6(TNNT1):c.304C>A (p.Arg102Ser) rs774855200
NM_003283.6(TNNT1):c.309+6C>T rs932070035
NM_003283.6(TNNT1):c.311A>T (p.Glu104Val) rs2085441049
NM_003283.6(TNNT1):c.319C>T (p.Arg107Trp) rs755856894
NM_003283.6(TNNT1):c.31_32+1del rs944152647
NM_003283.6(TNNT1):c.32+1G>A
NM_003283.6(TNNT1):c.32+4A>T rs780644788
NM_003283.6(TNNT1):c.320G>A (p.Arg107Gln) rs2147254128
NM_003283.6(TNNT1):c.370C>T (p.Arg124Cys) rs2085439112
NM_003283.6(TNNT1):c.376G>C (p.Ala126Pro)
NM_003283.6(TNNT1):c.387+5G>A rs2085438435
NM_003283.6(TNNT1):c.388-3C>G
NM_003283.6(TNNT1):c.401G>A (p.Arg134Lys)
NM_003283.6(TNNT1):c.428G>A (p.Arg143Gln)
NM_003283.6(TNNT1):c.46+6T>C
NM_003283.6(TNNT1):c.460C>G (p.Leu154Val) rs2085384859
NM_003283.6(TNNT1):c.46G>A (p.Glu16Lys) rs533504444
NM_003283.6(TNNT1):c.514C>T (p.Arg172Cys)
NM_003283.6(TNNT1):c.523C>G (p.Arg175Gly) rs780372739
NM_003283.6(TNNT1):c.536G>A (p.Arg179Gln) rs2147244813
NM_003283.6(TNNT1):c.554T>C (p.Ile185Thr) rs970200564
NM_003283.6(TNNT1):c.569A>G (p.Lys190Arg) rs2085359836
NM_003283.6(TNNT1):c.573G>T (p.Lys191Asn)
NM_003283.6(TNNT1):c.582C>A (p.Asp194Glu) rs2147244624
NM_003283.6(TNNT1):c.584T>C (p.Ile195Thr)
NM_003283.6(TNNT1):c.585T>G (p.Ile195Met) rs2085359369
NM_003283.6(TNNT1):c.589T>G (p.Tyr197Asp)
NM_003283.6(TNNT1):c.5C>G (p.Ser2Trp) rs1041234929
NM_003283.6(TNNT1):c.610C>T (p.Arg204Trp)
NM_003283.6(TNNT1):c.611+12G>A rs376456377
NM_003283.6(TNNT1):c.611+12G>T rs376456377
NM_003283.6(TNNT1):c.611G>T (p.Arg204Leu)
NM_003283.6(TNNT1):c.616C>G (p.Arg206Gly)
NM_003283.6(TNNT1):c.619T>C (p.Ser207Pro)
NM_003283.6(TNNT1):c.641A>G (p.Gln214Arg) rs2147236699
NM_003283.6(TNNT1):c.647C>G (p.Ser216Cys) rs1414740144
NM_003283.6(TNNT1):c.653C>G (p.Pro218Arg) rs2085300916
NM_003283.6(TNNT1):c.658A>T (p.Arg220Trp) rs113157106
NM_003283.6(TNNT1):c.711G>T (p.Lys237Asn) rs920784477
NM_003283.6(TNNT1):c.715G>A (p.Asp239Asn)
NM_003283.6(TNNT1):c.734A>T (p.Lys245Ile)
NM_003283.6(TNNT1):c.746A>G (p.Tyr249Cys)
NM_003283.6(TNNT1):c.751-5C>T rs192248377
NM_003283.6(TNNT1):c.764A>G (p.Tyr255Cys) rs1599869703
NM_003283.6(TNNT1):c.792-6C>G
NM_003283.6(TNNT1):c.799G>C (p.Gly267Arg)
NM_003283.6(TNNT1):c.81A>T (p.Glu27Asp) rs1267757904
NM_003283.6(TNNT1):c.89A>T (p.Glu30Val) rs2147267125
NM_003283.6(TNNT1):c.94G>T (p.Val32Leu) rs779711295
NM_003289.4(TPM2):c.*22C>A rs1824669468
NM_003289.4(TPM2):c.-92C>T rs886063906
NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)
NM_003289.4(TPM2):c.28A>T (p.Met10Leu) rs1825152365
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr) rs1369077598
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn) rs1419786293
NM_003289.4(TPM2):c.773-5C>G rs1230541017
NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)
NM_003319.4(TTN):c.12525dup (p.Asn4176Ter) rs876657673
NM_003319.4(TTN):c.18883_18897del (p.Ile6295_Gly6299del) rs727505075
NM_004168.3(SDHA):c.-115-?_*280+?dup2390
NM_004168.3(SDHA):c.-115-?_1432+?dup1547
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1000G>T (p.Ala334Ser)
NM_004168.4(SDHA):c.1004A>C (p.Lys335Thr) rs1560994846
NM_004168.4(SDHA):c.1005G>C (p.Lys335Asn) rs1735559685
NM_004168.4(SDHA):c.1006G>T (p.Asp336Tyr) rs1553999038
NM_004168.4(SDHA):c.1007A>C (p.Asp336Ala) rs1579402533
NM_004168.4(SDHA):c.1012G>A (p.Ala338Thr) rs2126577878
NM_004168.4(SDHA):c.1012G>C (p.Ala338Pro)
NM_004168.4(SDHA):c.1013C>G (p.Ala338Gly)
NM_004168.4(SDHA):c.1013C>T (p.Ala338Val) rs1560994866
NM_004168.4(SDHA):c.1016C>G (p.Ser339Cys) rs1553999043
NM_004168.4(SDHA):c.1019G>T (p.Arg340Ile) rs1579402602
NM_004168.4(SDHA):c.1021G>A (p.Asp341Asn)
NM_004168.4(SDHA):c.1022A>C (p.Asp341Ala) rs1579402616
NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly)
NM_004168.4(SDHA):c.1024G>A (p.Val342Met)
NM_004168.4(SDHA):c.1024G>C (p.Val342Leu) rs1735562520
NM_004168.4(SDHA):c.1024GTG[1] (p.Val343del) rs2126578027
NM_004168.4(SDHA):c.1027G>C (p.Val343Leu) rs2126578052
NM_004168.4(SDHA):c.1027G>T (p.Val343Leu)
NM_004168.4(SDHA):c.1028T>A (p.Val343Glu) rs1218116319
NM_004168.4(SDHA):c.1028T>C (p.Val343Ala)
NM_004168.4(SDHA):c.1030T>G (p.Ser344Ala) rs1735563330
NM_004168.4(SDHA):c.1031C>A (p.Ser344Tyr) rs1735563548
NM_004168.4(SDHA):c.1033C>G (p.Arg345Gly)
NM_004168.4(SDHA):c.1034G>A (p.Arg345Gln) rs1483236652
NM_004168.4(SDHA):c.1037C>A (p.Ser346Tyr)
NM_004168.4(SDHA):c.1037C>G (p.Ser346Cys) rs1041948
NM_004168.4(SDHA):c.1037_1038delinsTG (p.Ser346Leu) rs1735564312
NM_004168.4(SDHA):c.1037_1038inv (p.Ser346Trp)
NM_004168.4(SDHA):c.1039A>C (p.Met347Leu)
NM_004168.4(SDHA):c.1039A>G (p.Met347Val) rs1245387180
NM_004168.4(SDHA):c.103T>C (p.Phe35Leu)
NM_004168.4(SDHA):c.1040T>C (p.Met347Thr) rs1553999054
NM_004168.4(SDHA):c.1041G>T (p.Met347Ile)
NM_004168.4(SDHA):c.1042A>G (p.Thr348Ala) rs371484111
NM_004168.4(SDHA):c.1042A>T (p.Thr348Ser) rs371484111
NM_004168.4(SDHA):c.1043C>G (p.Thr348Ser)
NM_004168.4(SDHA):c.1049A>C (p.Glu350Ala)
NM_004168.4(SDHA):c.1055G>T (p.Arg352Leu) rs199844384
NM_004168.4(SDHA):c.1057G>A (p.Glu353Lys) rs1328911130
NM_004168.4(SDHA):c.1058A>C (p.Glu353Ala) rs2126578405
NM_004168.4(SDHA):c.1060G>A (p.Gly354Arg) rs746611221
NM_004168.4(SDHA):c.1060G>C (p.Gly354Arg) rs746611221
NM_004168.4(SDHA):c.1061G>A (p.Gly354Glu) rs2126578424
NM_004168.4(SDHA):c.1062A>T (p.Gly354=)
NM_004168.4(SDHA):c.1064+3G>A rs1553999078
NM_004168.4(SDHA):c.1064+3G>C
NM_004168.4(SDHA):c.1064+4C>A rs768276870
NM_004168.4(SDHA):c.1064+4C>G
NM_004168.4(SDHA):c.1064+5G>C rs200021115
NM_004168.4(SDHA):c.1064+6T>C
NM_004168.4(SDHA):c.1064G>C (p.Arg355Thr)
NM_004168.4(SDHA):c.1064G>T (p.Arg355Ile) rs1735568346
NM_004168.4(SDHA):c.1065-11T>C
NM_004168.4(SDHA):c.1065-13T>C
NM_004168.4(SDHA):c.1065-19T>A
NM_004168.4(SDHA):c.1065-8C>G
NM_004168.4(SDHA):c.1065A>G (p.Arg355=) rs2126584114
NM_004168.4(SDHA):c.1069T>C (p.Cys357Arg) rs1735685410
NM_004168.4(SDHA):c.106A>G (p.Thr36Ala) rs750500173
NM_004168.4(SDHA):c.106A>T (p.Thr36Ser) rs750500173
NM_004168.4(SDHA):c.1070G>A (p.Cys357Tyr) rs1560996433
NM_004168.4(SDHA):c.1073G>A (p.Gly358Asp)
NM_004168.4(SDHA):c.1076C>T (p.Pro359Leu)
NM_004168.4(SDHA):c.1078G>C (p.Glu360Gln)
NM_004168.4(SDHA):c.1079A>G (p.Glu360Gly)
NM_004168.4(SDHA):c.1079A>T (p.Glu360Val)
NM_004168.4(SDHA):c.1080G>T (p.Glu360Asp)
NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn)
NM_004168.4(SDHA):c.1083_1084insTCT (p.Lys361_Asp362insSer) rs1735687291
NM_004168.4(SDHA):c.1084G>T (p.Asp362Tyr) rs2126584224
NM_004168.4(SDHA):c.1087C>G (p.His363Asp) rs1553999417
NM_004168.4(SDHA):c.1087C>T (p.His363Tyr) rs1553999417
NM_004168.4(SDHA):c.1088A>G (p.His363Arg)
NM_004168.4(SDHA):c.1089C>A (p.His363Gln) rs368488126
NM_004168.4(SDHA):c.1090G>C (p.Val364Leu) rs372738835
NM_004168.4(SDHA):c.1091T>C (p.Val364Ala)
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1094A>G (p.Tyr365Cys)
NM_004168.4(SDHA):c.1096C>G (p.Leu366Val)
NM_004168.4(SDHA):c.10G>A (p.Val4Ile) rs778069799
NM_004168.4(SDHA):c.1101G>C (p.Gln367His)
NM_004168.4(SDHA):c.1103T>C (p.Leu368Pro) rs2126584397
NM_004168.4(SDHA):c.1103_1105del (p.Leu368del) rs1735689664
NM_004168.4(SDHA):c.1105C>G (p.His369Asp)
NM_004168.4(SDHA):c.1105C>T (p.His369Tyr) rs2126584410
NM_004168.4(SDHA):c.1106A>T (p.His369Leu)
NM_004168.4(SDHA):c.1107C>A (p.His369Gln) rs1268877544
NM_004168.4(SDHA):c.1108C>A (p.His370Asn) rs1060503704
NM_004168.4(SDHA):c.1108C>T (p.His370Tyr) rs1060503704
NM_004168.4(SDHA):c.1111C>G (p.Leu371Val) rs1735690368
NM_004168.4(SDHA):c.1114C>T (p.Pro372Ser)
NM_004168.4(SDHA):c.1115C>T (p.Pro372Leu) rs141493530
NM_004168.4(SDHA):c.1120G>C (p.Glu374Gln)
NM_004168.4(SDHA):c.1122G>C (p.Glu374Asp)
NM_004168.4(SDHA):c.1125G>T (p.Gln375His)
NM_004168.4(SDHA):c.1129G>C (p.Ala377Pro) rs1735692451
NM_004168.4(SDHA):c.112G>A (p.Asp38Asn) rs1553997174
NM_004168.4(SDHA):c.112G>C (p.Asp38His) rs1553997174
NM_004168.4(SDHA):c.1130C>A (p.Ala377Asp) rs1553999443
NM_004168.4(SDHA):c.1130C>T (p.Ala377Val) rs1553999443
NM_004168.4(SDHA):c.1136G>T (p.Arg379Leu) rs770719847
NM_004168.4(SDHA):c.1138C>A (p.Leu380Met) rs1735694280
NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg)
NM_004168.4(SDHA):c.1141C>G (p.Pro381Ala) rs1735694889
NM_004168.4(SDHA):c.1144_1149dup (p.Gly382_Ile383dup) rs2126584776
NM_004168.4(SDHA):c.1145G>A (p.Gly382Asp) rs373067620
NM_004168.4(SDHA):c.1147A>G (p.Ile383Val) rs2126584806
NM_004168.4(SDHA):c.114T>G (p.Asp38Glu)
NM_004168.4(SDHA):c.1156A>G (p.Thr386Ala) rs1553999461
NM_004168.4(SDHA):c.1159G>A (p.Ala387Thr) rs2126584893
NM_004168.4(SDHA):c.115G>A (p.Gly39Arg)
NM_004168.4(SDHA):c.1160C>T (p.Ala387Val)
NM_004168.4(SDHA):c.1162A>G (p.Met388Val) rs1579406553
NM_004168.4(SDHA):c.1162A>T (p.Met388Leu) rs1579406553
NM_004168.4(SDHA):c.1163T>C (p.Met388Thr) rs1419241279
NM_004168.4(SDHA):c.116G>T (p.Gly39Val)
NM_004168.4(SDHA):c.1170C>A (p.Phe390Leu) rs35277230
NM_004168.4(SDHA):c.1171G>C (p.Ala391Pro) rs376597185
NM_004168.4(SDHA):c.1171G>T (p.Ala391Ser) rs376597185
NM_004168.4(SDHA):c.1172C>G (p.Ala391Gly)
NM_004168.4(SDHA):c.1174G>A (p.Gly392Ser)
NM_004168.4(SDHA):c.1175G>A (p.Gly392Asp)
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1177G>C (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu)
NM_004168.4(SDHA):c.1183G>A (p.Val395Ile) rs748683825
NM_004168.4(SDHA):c.1190A>G (p.Lys397Arg) rs745798689
NM_004168.4(SDHA):c.1190A>T (p.Lys397Met)
NM_004168.4(SDHA):c.1191G>C (p.Lys397Asn) rs1035794713
NM_004168.4(SDHA):c.1192_1193delinsAT (p.Glu398Met)
NM_004168.4(SDHA):c.1194G>T (p.Glu398Asp)
NM_004168.4(SDHA):c.1195C>A (p.Pro399Thr)
NM_004168.4(SDHA):c.1195C>T (p.Pro399Ser) rs2126585242
NM_004168.4(SDHA):c.1199T>A (p.Ile400Asn) rs876660886
NM_004168.4(SDHA):c.119A>G (p.Asn40Ser) rs1734833856
NM_004168.4(SDHA):c.11T>A (p.Val4Asp)
NM_004168.4(SDHA):c.11T>C (p.Val4Ala)
NM_004168.4(SDHA):c.11T>G (p.Val4Gly) rs1579369675
NM_004168.4(SDHA):c.1201C>T (p.Pro401Ser) rs1560996818
NM_004168.4(SDHA):c.1204G>A (p.Val402Ile)
NM_004168.4(SDHA):c.1204G>C (p.Val402Leu) rs2126585344
NM_004168.4(SDHA):c.1205T>G (p.Val402Gly) rs2126585353
NM_004168.4(SDHA):c.1207C>T (p.Leu403Phe)
NM_004168.4(SDHA):c.120C>A (p.Asn40Lys) rs1579379803
NM_004168.4(SDHA):c.120C>G (p.Asn40Lys) rs1579379803
NM_004168.4(SDHA):c.1211C>T (p.Pro404Leu)
NM_004168.4(SDHA):c.1214C>A (p.Thr405Asn) rs1553999491
NM_004168.4(SDHA):c.1214C>T (p.Thr405Ile)
NM_004168.4(SDHA):c.1216G>A (p.Val406Met) rs1258201485
NM_004168.4(SDHA):c.121A>G (p.Lys41Glu)
NM_004168.4(SDHA):c.1220A>T (p.His407Leu) rs374087393
NM_004168.4(SDHA):c.1225A>G (p.Asn409Asp)
NM_004168.4(SDHA):c.1225A>T (p.Asn409Tyr)
NM_004168.4(SDHA):c.1226A>T (p.Asn409Ile)
NM_004168.4(SDHA):c.1228A>G (p.Met410Val) rs876658852
NM_004168.4(SDHA):c.1229T>C (p.Met410Thr) rs1553999505
NM_004168.4(SDHA):c.1229T>G (p.Met410Arg)
NM_004168.4(SDHA):c.1230G>C (p.Met410Ile) rs1735707028
NM_004168.4(SDHA):c.1231G>A (p.Gly411Ser) rs2126585602
NM_004168.4(SDHA):c.1234G>T (p.Gly412Cys) rs768055345
NM_004168.4(SDHA):c.1237A>C (p.Ile413Leu)
NM_004168.4(SDHA):c.1240C>G (p.Pro414Ala) rs1735708028
NM_004168.4(SDHA):c.1240C>T (p.Pro414Ser) rs1735708028
NM_004168.4(SDHA):c.1241CCA[1] (p.Thr415del) rs2126585682
NM_004168.4(SDHA):c.1243A>G (p.Thr415Ala) rs2126585699
NM_004168.4(SDHA):c.1247A>G (p.Asn416Ser)
NM_004168.4(SDHA):c.1247A>T (p.Asn416Ile) rs1409603646
NM_004168.4(SDHA):c.1248C>G (p.Asn416Lys)
NM_004168.4(SDHA):c.1252A>G (p.Lys418Glu)
NM_004168.4(SDHA):c.1255G>A (p.Gly419Arg) rs1735709331
NM_004168.4(SDHA):c.1259A>G (p.Gln420Arg) rs1735709829
NM_004168.4(SDHA):c.1260+3G>T rs2126585827
NM_004168.4(SDHA):c.1260+6G>A rs2126585843
NM_004168.4(SDHA):c.1260G>A (p.Gln420=)
NM_004168.4(SDHA):c.1268G>A (p.Arg423Lys)
NM_004168.4(SDHA):c.1270C>T (p.His424Tyr)
NM_004168.4(SDHA):c.1271A>G (p.His424Arg) rs1579409312
NM_004168.4(SDHA):c.1273G>A (p.Val425Met) rs201822097
NM_004168.4(SDHA):c.1273G>T (p.Val425Leu) rs201822097
NM_004168.4(SDHA):c.1277A>G (p.Asn426Ser) rs1060503725
NM_004168.4(SDHA):c.1280G>T (p.Gly427Val) rs1735782215
NM_004168.4(SDHA):c.1282C>G (p.Gln428Glu)
NM_004168.4(SDHA):c.1284G>C (p.Gln428His) rs1735782951
NM_004168.4(SDHA):c.1285G>A (p.Asp429Asn) rs988419580
NM_004168.4(SDHA):c.1286A>T (p.Asp429Val)
NM_004168.4(SDHA):c.1287T>G (p.Asp429Glu)
NM_004168.4(SDHA):c.1289A>G (p.Gln430Arg)
NM_004168.4(SDHA):c.128C>T (p.Ala43Val)
NM_004168.4(SDHA):c.1291A>G (p.Ile431Val) rs1579409384
NM_004168.4(SDHA):c.1292T>C (p.Ile431Thr) rs776188923
NM_004168.4(SDHA):c.1294G>A (p.Val432Met) rs2126589526
NM_004168.4(SDHA):c.1295T>C (p.Val432Ala) rs1490844767
NM_004168.4(SDHA):c.1297C>T (p.Pro433Ser) rs1560998056
NM_004168.4(SDHA):c.1300G>C (p.Gly434Arg) rs529198317
NM_004168.4(SDHA):c.1304T>A (p.Leu435Gln) rs1579409500
NM_004168.4(SDHA):c.1304T>C (p.Leu435Pro) rs1579409500
NM_004168.4(SDHA):c.1309G>A (p.Ala437Thr) rs1553999731
NM_004168.4(SDHA):c.130T>A (p.Ser44Thr)
NM_004168.4(SDHA):c.1313G>A (p.Cys438Tyr)
NM_004168.4(SDHA):c.1313G>C (p.Cys438Ser) rs1424809160
NM_004168.4(SDHA):c.1313G>T (p.Cys438Phe) rs1424809160
NM_004168.4(SDHA):c.1315G>A (p.Gly439Arg) rs1579409601
NM_004168.4(SDHA):c.1316G>A (p.Gly439Glu) rs374086655
NM_004168.4(SDHA):c.1316_1330dup (p.Gly439_Cys443dup) rs768469627
NM_004168.4(SDHA):c.1318G>A (p.Glu440Lys) rs1735789566
NM_004168.4(SDHA):c.1319A>C (p.Glu440Ala)
NM_004168.4(SDHA):c.1319A>G (p.Glu440Gly) rs1735789704
NM_004168.4(SDHA):c.1319A>T (p.Glu440Val) rs1735789704
NM_004168.4(SDHA):c.131C>A (p.Ser44Tyr) rs1734835164
NM_004168.4(SDHA):c.131C>G (p.Ser44Cys)
NM_004168.4(SDHA):c.131C>T (p.Ser44Phe) rs1734835164
NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp)
NM_004168.4(SDHA):c.1321G>A (p.Ala441Thr)
NM_004168.4(SDHA):c.1321G>C (p.Ala441Pro)
NM_004168.4(SDHA):c.1324G>T (p.Ala442Ser) rs754893758
NM_004168.4(SDHA):c.1325C>T (p.Ala442Val)
NM_004168.4(SDHA):c.1327T>C (p.Cys443Arg) rs2126589848
NM_004168.4(SDHA):c.1330G>A (p.Ala444Thr)
NM_004168.4(SDHA):c.1330_1331delinsTT (p.Ala444Phe) rs1735790227
NM_004168.4(SDHA):c.1331C>A (p.Ala444Asp)
NM_004168.4(SDHA):c.1336G>A (p.Val446Ile)
NM_004168.4(SDHA):c.1339C>T (p.His447Tyr) rs2126589966
NM_004168.4(SDHA):c.133G>C (p.Ala45Pro) rs140736646
NM_004168.4(SDHA):c.1340A>C (p.His447Pro) rs779151375
NM_004168.4(SDHA):c.1342G>A (p.Gly448Ser) rs1064795863
NM_004168.4(SDHA):c.1345G>A (p.Ala449Thr) rs1485193902
NM_004168.4(SDHA):c.1345G>C (p.Ala449Pro)
NM_004168.4(SDHA):c.1346C>G (p.Ala449Gly) rs201139275
NM_004168.4(SDHA):c.1349A>G (p.Asn450Ser) rs1579409723
NM_004168.4(SDHA):c.134C>G (p.Ala45Gly)
NM_004168.4(SDHA):c.134C>T (p.Ala45Val) rs1553997190
NM_004168.4(SDHA):c.1351C>A (p.Arg451Ser) rs1553999752
NM_004168.4(SDHA):c.1354C>T (p.Leu452Phe) rs1064796477
NM_004168.4(SDHA):c.1355T>C (p.Leu452Pro) rs1735794275
NM_004168.4(SDHA):c.1360G>A (p.Ala454Thr) rs1057517550
NM_004168.4(SDHA):c.1360G>T (p.Ala454Ser) rs1057517550
NM_004168.4(SDHA):c.1361C>A (p.Ala454Glu) rs1553999766
NM_004168.4(SDHA):c.1366T>G (p.Ser456Ala)
NM_004168.4(SDHA):c.1367C>G (p.Ser456Trp)
NM_004168.4(SDHA):c.1370T>A (p.Leu457His) rs1579409887
NM_004168.4(SDHA):c.1375G>A (p.Asp459Asn)
NM_004168.4(SDHA):c.1375G>C (p.Asp459His) rs1735797208
NM_004168.4(SDHA):c.1376A>G (p.Asp459Gly) rs2126590273
NM_004168.4(SDHA):c.1384G>A (p.Val462Ile)
NM_004168.4(SDHA):c.1387T>C (p.Phe463Leu)
NM_004168.4(SDHA):c.1390G>A (p.Gly464Ser) rs2126590387
NM_004168.4(SDHA):c.1390G>C (p.Gly464Arg)
NM_004168.4(SDHA):c.1396G>C (p.Ala466Pro)
NM_004168.4(SDHA):c.1396G>T (p.Ala466Ser) rs111387770
NM_004168.4(SDHA):c.13C>G (p.Arg5Gly) rs770866830
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp) rs770866830
NM_004168.4(SDHA):c.1403C>T (p.Ala468Val) rs1057524636
NM_004168.4(SDHA):c.1408A>C (p.Ser470Arg) rs1735799664
NM_004168.4(SDHA):c.1409G>A (p.Ser470Asn) rs1241820374
NM_004168.4(SDHA):c.1409G>T (p.Ser470Ile)
NM_004168.4(SDHA):c.1411A>G (p.Ile471Val) rs1735800203
NM_004168.4(SDHA):c.1413C>G (p.Ile471Met) rs34779890
NM_004168.4(SDHA):c.1416A>T (p.Glu472Asp)
NM_004168.4(SDHA):c.1417G>C (p.Glu473Gln) rs2126590644
NM_004168.4(SDHA):c.1418A>C (p.Glu473Ala) rs1560998495
NM_004168.4(SDHA):c.1420T>C (p.Ser474Pro) rs2126590674
NM_004168.4(SDHA):c.1421C>T (p.Ser474Leu)
NM_004168.4(SDHA):c.1424G>C (p.Cys475Ser) rs748567636
NM_004168.4(SDHA):c.1424G>T (p.Cys475Phe)
NM_004168.4(SDHA):c.1427G>A (p.Arg476Lys) rs2126590736
NM_004168.4(SDHA):c.1428G>C (p.Arg476Ser) rs377415114
NM_004168.4(SDHA):c.1428G>T (p.Arg476Ser) rs377415114
NM_004168.4(SDHA):c.142T>A (p.Ser48Thr)
NM_004168.4(SDHA):c.1430C>A (p.Pro477His) rs146990772
NM_004168.4(SDHA):c.1432+3A>G
NM_004168.4(SDHA):c.1432+4A>G rs1553999798
NM_004168.4(SDHA):c.1432G>C (p.Gly478Arg)
NM_004168.4(SDHA):c.1433-3T>C rs1736060812
NM_004168.4(SDHA):c.1436A>G (p.Asp479Gly)
NM_004168.4(SDHA):c.1436A>T (p.Asp479Val)
NM_004168.4(SDHA):c.1438A>G (p.Lys480Glu) rs1579417444
NM_004168.4(SDHA):c.1439A>G (p.Lys480Arg)
NM_004168.4(SDHA):c.1441G>A (p.Val481Ile)
NM_004168.4(SDHA):c.1442T>C (p.Val481Ala)
NM_004168.4(SDHA):c.1442T>G (p.Val481Gly) rs1736061170
NM_004168.4(SDHA):c.1444C>T (p.Pro482Ser)
NM_004168.4(SDHA):c.1445C>G (p.Pro482Arg) rs759661610
NM_004168.4(SDHA):c.1445C>T (p.Pro482Leu) rs759661610
NM_004168.4(SDHA):c.1448C>T (p.Pro483Leu) rs2126602519
NM_004168.4(SDHA):c.1451T>G (p.Ile484Ser)
NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln)
NM_004168.4(SDHA):c.1453A>G (p.Lys485Glu) rs1736062209
NM_004168.4(SDHA):c.1456C>T (p.Pro486Ser) rs1060503706
NM_004168.4(SDHA):c.1457C>T (p.Pro486Leu) rs1579417528
NM_004168.4(SDHA):c.145G>C (p.Asp49His) rs1734836072
NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys)
NM_004168.4(SDHA):c.1462G>T (p.Ala488Ser) rs369100772
NM_004168.4(SDHA):c.1463C>T (p.Ala488Val) rs1421325038
NM_004168.4(SDHA):c.1465G>A (p.Gly489Arg) rs2126602614
NM_004168.4(SDHA):c.1466G>A (p.Gly489Glu)
NM_004168.4(SDHA):c.1466_1468del (p.Gly489del)
NM_004168.4(SDHA):c.1468G>A (p.Glu490Lys)
NM_004168.4(SDHA):c.1471G>A (p.Glu491Lys) rs778207102
NM_004168.4(SDHA):c.1472A>G (p.Glu491Gly) rs754324916
NM_004168.4(SDHA):c.1477G>T (p.Val493Phe) rs1579417619
NM_004168.4(SDHA):c.1480A>G (p.Met494Val) rs1579417628
NM_004168.4(SDHA):c.1481T>C (p.Met494Thr) rs1561001630
NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile)
NM_004168.4(SDHA):c.1486C>A (p.Leu496Ile) rs1305001616
NM_004168.4(SDHA):c.1487T>C (p.Leu496Pro)
NM_004168.4(SDHA):c.148T>G (p.Ser50Ala) rs1560985310
NM_004168.4(SDHA):c.1491C>G (p.Asp497Glu) rs1579417658
NM_004168.4(SDHA):c.1492A>C (p.Lys498Gln)
NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr)
NM_004168.4(SDHA):c.1497G>C (p.Leu499Phe)
NM_004168.4(SDHA):c.1499G>A (p.Arg500Lys)
NM_004168.4(SDHA):c.149C>A (p.Ser50Tyr) rs369321221
NM_004168.4(SDHA):c.149C>G (p.Ser50Cys) rs369321221
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln) rs779027774
NM_004168.4(SDHA):c.150+2dup rs1560985349
NM_004168.4(SDHA):c.150+4A>G rs1734837029
NM_004168.4(SDHA):c.150+6T>G rs1060503699
NM_004168.4(SDHA):c.1502T>G (p.Phe501Cys) rs757932443
NM_004168.4(SDHA):c.1507G>A (p.Asp503Asn) rs2126602837
NM_004168.4(SDHA):c.1508A>C (p.Asp503Ala) rs1736066055
NM_004168.4(SDHA):c.151-15A>G
NM_004168.4(SDHA):c.151-3C>A
NM_004168.4(SDHA):c.151-3C>T
NM_004168.4(SDHA):c.1510G>A (p.Gly504Arg) rs1579417710
NM_004168.4(SDHA):c.1514G>A (p.Ser505Asn) rs1060503722
NM_004168.4(SDHA):c.1516A>G (p.Ile506Val) rs1561001683
NM_004168.4(SDHA):c.1517T>C (p.Ile506Thr) rs2126602878
NM_004168.4(SDHA):c.1520G>A (p.Arg507Lys)
NM_004168.4(SDHA):c.1522A>G (p.Thr508Ala) rs1060503718
NM_004168.4(SDHA):c.1522A>T (p.Thr508Ser) rs1060503718
NM_004168.4(SDHA):c.1525T>C (p.Ser509Pro) rs1579417769
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1531C>G (p.Leu511Val) rs768257880
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) rs192818312
NM_004168.4(SDHA):c.1535G>C (p.Arg512Pro)
NM_004168.4(SDHA):c.1541G>A (p.Ser514Asn) rs587781729
NM_004168.4(SDHA):c.1541G>C (p.Ser514Thr) rs587781729
NM_004168.4(SDHA):c.1543A>G (p.Met515Val) rs1736069297
NM_004168.4(SDHA):c.1545G>A (p.Met515Ile)
NM_004168.4(SDHA):c.1545G>T (p.Met515Ile) rs1736069479
NM_004168.4(SDHA):c.1547A>G (p.Gln516Arg) rs981171929
NM_004168.4(SDHA):c.1547A>T (p.Gln516Leu)
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.1549_1551dup (p.Lys517dup) rs1736070159
NM_004168.4(SDHA):c.1551+3A>G rs767596385
NM_004168.4(SDHA):c.1551+4A>T rs928294715
NM_004168.4(SDHA):c.1551+5G>C rs2126603143
NM_004168.4(SDHA):c.1551+6A>G rs369507726
NM_004168.4(SDHA):c.1552-10T>G rs1736784473
NM_004168.4(SDHA):c.1552-173_1585dup rs1736773597
NM_004168.4(SDHA):c.1552-3_1552-2del rs2126631914
NM_004168.4(SDHA):c.1552T>A (p.Ser518Thr)
NM_004168.4(SDHA):c.1552T>C (p.Ser518Pro) rs2126631929
NM_004168.4(SDHA):c.1553C>T (p.Ser518Leu) rs2126631937
NM_004168.4(SDHA):c.1555A>G (p.Met519Val) rs2126631942
NM_004168.4(SDHA):c.1557G>A (p.Met519Ile)
NM_004168.4(SDHA):c.1559A>G (p.Gln520Arg)
NM_004168.4(SDHA):c.1561A>G (p.Asn521Asp)
NM_004168.4(SDHA):c.1562A>G (p.Asn521Ser)
NM_004168.4(SDHA):c.1563T>A (p.Asn521Lys)
NM_004168.4(SDHA):c.1564C>T (p.His522Tyr)
NM_004168.4(SDHA):c.1564_1566del (p.His522del) rs1325342549
NM_004168.4(SDHA):c.1565A>G (p.His522Arg)
NM_004168.4(SDHA):c.1567G>T (p.Ala523Ser) rs1554001820
NM_004168.4(SDHA):c.1568C>A (p.Ala523Asp) rs1736785630
NM_004168.4(SDHA):c.1568C>G (p.Ala523Gly) rs1736785630
NM_004168.4(SDHA):c.1568C>T (p.Ala523Val) rs1736785630
NM_004168.4(SDHA):c.1570G>A (p.Ala524Thr)
NM_004168.4(SDHA):c.1570G>T (p.Ala524Ser)
NM_004168.4(SDHA):c.1578C>A (p.Phe526Leu) rs2126632042
NM_004168.4(SDHA):c.1580G>T (p.Arg527Leu)
NM_004168.4(SDHA):c.1582G>A (p.Val528Met) rs1554001827
NM_004168.4(SDHA):c.1584G>A (p.Val528=)
NM_004168.4(SDHA):c.1586G>C (p.Gly529Ala) rs2126632088
NM_004168.4(SDHA):c.1589G>A (p.Ser530Asn)
NM_004168.4(SDHA):c.1589G>C (p.Ser530Thr)
NM_004168.4(SDHA):c.158C>G (p.Ala53Gly)
NM_004168.4(SDHA):c.1591G>T (p.Val531Leu) rs371056571
NM_004168.4(SDHA):c.1596G>T (p.Leu532Phe) rs1449742263
NM_004168.4(SDHA):c.1598A>C (p.Gln533Pro) rs1395387473
NM_004168.4(SDHA):c.1598A>T (p.Gln533Leu) rs1395387473
NM_004168.4(SDHA):c.1598AAG[1] (p.Glu534del) rs1736788779
NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys)
NM_004168.4(SDHA):c.1604G>C (p.Gly535Ala) rs1736789524
NM_004168.4(SDHA):c.1607G>A (p.Cys536Tyr) rs1736789855
NM_004168.4(SDHA):c.1607G>C (p.Cys536Ser)
NM_004168.4(SDHA):c.1607G>T (p.Cys536Phe)
NM_004168.4(SDHA):c.1608T>G (p.Cys536Trp)
NM_004168.4(SDHA):c.1609G>A (p.Gly537Arg) rs1736789994
NM_004168.4(SDHA):c.1610G>C (p.Gly537Ala)
NM_004168.4(SDHA):c.1615A>G (p.Ile539Val)
NM_004168.4(SDHA):c.1616T>G (p.Ile539Ser) rs749219128
NM_004168.4(SDHA):c.1617C>G (p.Ile539Met)
NM_004168.4(SDHA):c.161A>C (p.Gln54Pro)
NM_004168.4(SDHA):c.161A>G (p.Gln54Arg)
NM_004168.4(SDHA):c.1621A>G (p.Lys541Glu) rs1736791200
NM_004168.4(SDHA):c.1624C>T (p.Leu542Phe)
NM_004168.4(SDHA):c.1625T>C (p.Leu542Pro) rs1233761838
NM_004168.4(SDHA):c.1631G>A (p.Gly544Glu) rs2126632293
NM_004168.4(SDHA):c.1633G>A (p.Asp545Asn) rs1736792773
NM_004168.4(SDHA):c.1633G>C (p.Asp545His)
NM_004168.4(SDHA):c.1633G>T (p.Asp545Tyr) rs1736792773
NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln)
NM_004168.4(SDHA):c.1640A>G (p.Lys547Arg) rs1561010407
NM_004168.4(SDHA):c.1643A>G (p.His548Arg)
NM_004168.4(SDHA):c.1645C>G (p.Leu549Val) rs1554001867
NM_004168.4(SDHA):c.1646T>C (p.Leu549Pro) rs1579438155
NM_004168.4(SDHA):c.1648A>C (p.Lys550Gln) rs1400219619
NM_004168.4(SDHA):c.1649A>C (p.Lys550Thr)
NM_004168.4(SDHA):c.164A>G (p.Tyr55Cys) rs2126542365
NM_004168.4(SDHA):c.1651A>G (p.Thr551Ala) rs1200051286
NM_004168.4(SDHA):c.1654T>G (p.Phe552Val) rs1736795269
NM_004168.4(SDHA):c.1658A>C (p.Asp553Ala) rs1060503723
NM_004168.4(SDHA):c.1659C>A (p.Asp553Glu)
NM_004168.4(SDHA):c.1661G>C (p.Arg554Pro)
NM_004168.4(SDHA):c.1661G>T (p.Arg554Leu) rs376391115
NM_004168.4(SDHA):c.1662G>C (p.Arg554=) rs1579438241
NM_004168.4(SDHA):c.1662G>T (p.Arg554=) rs1579438241
NM_004168.4(SDHA):c.1663+5G>C rs1736797211
NM_004168.4(SDHA):c.1663+6C>G rs1736797323
NM_004168.4(SDHA):c.1663G>A (p.Gly555Arg) rs1392860800
NM_004168.4(SDHA):c.1663G>C (p.Gly555Arg) rs1392860800
NM_004168.4(SDHA):c.1664-3C>T
NM_004168.4(SDHA):c.1667T>A (p.Met556Lys) rs1579438769
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr) rs1579438769
NM_004168.4(SDHA):c.1668G>A (p.Met556Ile) rs2126633148
NM_004168.4(SDHA):c.1669G>A (p.Val557Ile)
NM_004168.4(SDHA):c.166C>A (p.Pro56Thr) rs2126542374
NM_004168.4(SDHA):c.1670T>C (p.Val557Ala)
NM_004168.4(SDHA):c.1674G>T (p.Trp558Cys) rs1561010726
NM_004168.4(SDHA):c.1678A>G (p.Thr560Ala) rs1269114291
NM_004168.4(SDHA):c.167C>T (p.Pro56Leu)
NM_004168.4(SDHA):c.1681G>A (p.Asp561Asn)
NM_004168.4(SDHA):c.1684C>A (p.Leu562Met) rs1561010740
NM_004168.4(SDHA):c.1684C>G (p.Leu562Val) rs1561010740
NM_004168.4(SDHA):c.1685T>C (p.Leu562Pro) rs1736814018
NM_004168.4(SDHA):c.1687G>C (p.Val563Leu)
NM_004168.4(SDHA):c.1687G>T (p.Val563Leu) rs1736814459
NM_004168.4(SDHA):c.1691A>G (p.Glu564Gly) rs763529675
NM_004168.4(SDHA):c.1692G>C (p.Glu564Asp) rs368388954
NM_004168.4(SDHA):c.1693A>T (p.Thr565Ser)
NM_004168.4(SDHA):c.1694C>T (p.Thr565Ile) rs757176672
NM_004168.4(SDHA):c.1697T>G (p.Leu566Arg) rs1579438883
NM_004168.4(SDHA):c.1699G>A (p.Glu567Lys) rs1736816371
NM_004168.4(SDHA):c.169G>A (p.Val57Ile) rs1060503724
NM_004168.4(SDHA):c.169G>T (p.Val57Leu) rs1060503724
NM_004168.4(SDHA):c.16G>C (p.Gly6Arg) rs1352756438
NM_004168.4(SDHA):c.1702C>G (p.Leu568Val) rs1554001912
NM_004168.4(SDHA):c.1706A>G (p.Gln569Arg)
NM_004168.4(SDHA):c.1707G>C (p.Gln569His)
NM_004168.4(SDHA):c.1708A>T (p.Asn570Tyr) rs1561010778
NM_004168.4(SDHA):c.1709A>C (p.Asn570Thr)
NM_004168.4(SDHA):c.170T>A (p.Val57Glu) rs1734883606
NM_004168.4(SDHA):c.1710C>A (p.Asn570Lys)
NM_004168.4(SDHA):c.1711C>G (p.Leu571Val) rs1377424433
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) rs1736817446
NM_004168.4(SDHA):c.1715T>C (p.Met572Thr) rs1554001925
NM_004168.4(SDHA):c.1715T>G (p.Met572Arg) rs1554001925
NM_004168.4(SDHA):c.1718T>C (p.Leu573Pro)
NM_004168.4(SDHA):c.1720T>C (p.Cys574Arg)
NM_004168.4(SDHA):c.1721G>A (p.Cys574Tyr) rs2126633379
NM_004168.4(SDHA):c.1723G>A (p.Ala575Thr) rs1301370839
NM_004168.4(SDHA):c.1723G>T (p.Ala575Ser)
NM_004168.4(SDHA):c.172G>A (p.Val58Met)
NM_004168.4(SDHA):c.1731G>T (p.Gln577His)
NM_004168.4(SDHA):c.1733C>A (p.Thr578Asn) rs1349207461
NM_004168.4(SDHA):c.1733C>T (p.Thr578Ile) rs1349207461
NM_004168.4(SDHA):c.1735A>G (p.Ile579Val) rs1042052
NM_004168.4(SDHA):c.1736T>C (p.Ile579Thr) rs1323205068
NM_004168.4(SDHA):c.1738T>A (p.Tyr580Asn)
NM_004168.4(SDHA):c.1738T>C (p.Tyr580His) rs1042056
NM_004168.4(SDHA):c.1739A>T (p.Tyr580Phe)
NM_004168.4(SDHA):c.173T>G (p.Val58Gly) rs2126542426
NM_004168.4(SDHA):c.1742G>A (p.Gly581Glu)
NM_004168.4(SDHA):c.1744G>C (p.Ala582Pro) rs1736821952
NM_004168.4(SDHA):c.1751_1752inv (p.Ala584Val)
NM_004168.4(SDHA):c.1756A>C (p.Lys586Gln)
NM_004168.4(SDHA):c.1756A>G (p.Lys586Glu) rs1736823607
NM_004168.4(SDHA):c.1757A>G (p.Lys586Arg)
NM_004168.4(SDHA):c.1759G>A (p.Glu587Lys) rs1554001954
NM_004168.4(SDHA):c.175G>A (p.Asp59Asn)
NM_004168.4(SDHA):c.1763C>T (p.Ser588Leu) rs1579439198
NM_004168.4(SDHA):c.1768G>A (p.Gly590Ser) rs1736825032
NM_004168.4(SDHA):c.1769G>A (p.Gly590Asp) rs2126633698
NM_004168.4(SDHA):c.176A>G (p.Asp59Gly) rs775449731
NM_004168.4(SDHA):c.1774C>A (p.His592Asn) rs1579439269
NM_004168.4(SDHA):c.1774C>T (p.His592Tyr) rs1579439269
NM_004168.4(SDHA):c.1775A>G (p.His592Arg) rs1554001966
NM_004168.4(SDHA):c.1775A>T (p.His592Leu)
NM_004168.4(SDHA):c.1776T>G (p.His592Gln) rs1126538
NM_004168.4(SDHA):c.1777G>A (p.Ala593Thr) rs1736827311
NM_004168.4(SDHA):c.1778C>A (p.Ala593Asp) rs1736827451
NM_004168.4(SDHA):c.1778C>T (p.Ala593Val) rs1736827451
NM_004168.4(SDHA):c.1780A>G (p.Arg594Gly)
NM_004168.4(SDHA):c.1781G>T (p.Arg594Met)
NM_004168.4(SDHA):c.1782G>C (p.Arg594Ser)
NM_004168.4(SDHA):c.1783G>A (p.Glu595Lys)
NM_004168.4(SDHA):c.1786G>C (p.Asp596His) rs371304688
NM_004168.4(SDHA):c.1786G>T (p.Asp596Tyr) rs371304688
NM_004168.4(SDHA):c.1787A>T (p.Asp596Val)
NM_004168.4(SDHA):c.1789T>C (p.Tyr597His) rs1060503721
NM_004168.4(SDHA):c.1789_1791del (p.Tyr597del)
NM_004168.4(SDHA):c.1790A>G (p.Tyr597Cys) rs1736828708
NM_004168.4(SDHA):c.1790A>T (p.Tyr597Phe) rs1736828708
NM_004168.4(SDHA):c.1792A>G (p.Lys598Glu) rs2126633857
NM_004168.4(SDHA):c.1793A>G (p.Lys598Arg) rs1579439363
NM_004168.4(SDHA):c.1794+4G>A
NM_004168.4(SDHA):c.1794+4G>T
NM_004168.4(SDHA):c.1794+5G>A
NM_004168.4(SDHA):c.1794+5G>C rs1205244370
NM_004168.4(SDHA):c.1794G>A (p.Lys598=) rs1554001975
NM_004168.4(SDHA):c.1795-6C>A rs756792828
NM_004168.4(SDHA):c.17G>C (p.Gly6Ala) rs187964306
NM_004168.4(SDHA):c.17G>T (p.Gly6Val) rs187964306
NM_004168.4(SDHA):c.1804G>A (p.Asp602Asn) rs1737043619
NM_004168.4(SDHA):c.1808A>G (p.Glu603Gly) rs1737044250
NM_004168.4(SDHA):c.1811A>G (p.Tyr604Cys) rs1737044552
NM_004168.4(SDHA):c.1813G>C (p.Asp605His) rs771593214
NM_004168.4(SDHA):c.1816T>A (p.Tyr606Asn) rs17400614
NM_004168.4(SDHA):c.181G>C (p.Glu61Gln)
NM_004168.4(SDHA):c.1825C>T (p.Pro609Ser) rs1737046014
NM_004168.4(SDHA):c.1826C>G (p.Pro609Arg) rs2126641323
NM_004168.4(SDHA):c.1828A>G (p.Ile610Val) rs1554002446
NM_004168.4(SDHA):c.182A>G (p.Glu61Gly)
NM_004168.4(SDHA):c.1830C>G (p.Ile610Met) rs1209697697
NM_004168.4(SDHA):c.1832A>G (p.Gln611Arg) rs1737046877
NM_004168.4(SDHA):c.1834G>A (p.Gly612Arg) rs1737047578
NM_004168.4(SDHA):c.1835G>A (p.Gly612Glu) rs1057523336
NM_004168.4(SDHA):c.1843AAG[1] (p.Lys616del) rs1737048556
NM_004168.4(SDHA):c.1846A>G (p.Lys616Glu) rs1453752069
NM_004168.4(SDHA):c.1849C>T (p.Pro617Ser) rs1199988395
NM_004168.4(SDHA):c.1850C>T (p.Pro617Leu) rs1485754812
NM_004168.4(SDHA):c.1861C>G (p.His621Asp) rs1554002475
NM_004168.4(SDHA):c.1862A>G (p.His621Arg) rs1737050290
NM_004168.4(SDHA):c.1863C>G (p.His621Gln) rs1554002478
NM_004168.4(SDHA):c.1866G>A (p.Trp622Ter) rs1579445179
NM_004168.4(SDHA):c.1871A>G (p.Lys624Arg) rs1579445190
NM_004168.4(SDHA):c.1873C>T (p.His625Tyr) rs1554002483
NM_004168.4(SDHA):c.1880T>G (p.Leu627Arg) rs1737051659
NM_004168.4(SDHA):c.1880dup (p.Ser628fs) rs1579445237
NM_004168.4(SDHA):c.1885T>A (p.Tyr629Asn) rs1579445293
NM_004168.4(SDHA):c.1886A>C (p.Tyr629Ser) rs6960
NM_004168.4(SDHA):c.1886A>G (p.Tyr629Cys) rs6960
NM_004168.4(SDHA):c.188A>G (p.Asp63Gly) rs1553997327
NM_004168.4(SDHA):c.188A>T (p.Asp63Val) rs1553997327
NM_004168.4(SDHA):c.1891G>A (p.Asp631Asn) rs776500078
NM_004168.4(SDHA):c.1893C>A (p.Asp631Glu) rs1364764796
NM_004168.4(SDHA):c.1894G>A (p.Val632Ile) rs369639811
NM_004168.4(SDHA):c.1894G>T (p.Val632Phe) rs369639811
NM_004168.4(SDHA):c.1897G>A (p.Gly633Ser) rs2126641674
NM_004168.4(SDHA):c.1900A>G (p.Thr634Ala) rs1017441235
NM_004168.4(SDHA):c.1900A>T (p.Thr634Ser) rs1017441235
NM_004168.4(SDHA):c.1903G>A (p.Gly635Arg) rs1737055056
NM_004168.4(SDHA):c.1908+2T>C rs1737056056
NM_004168.4(SDHA):c.1908G>T (p.Lys636Asn) rs1244151760
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1909-3A>G
NM_004168.4(SDHA):c.1909-8_1909-4del rs1737179400
NM_004168.4(SDHA):c.1909G>A (p.Val637Ile) rs769599373
NM_004168.4(SDHA):c.190G>A (p.Ala64Thr) rs1734884655
NM_004168.4(SDHA):c.1910T>C (p.Val637Ala) rs1737179959
NM_004168.4(SDHA):c.1913C>G (p.Thr638Ser) rs370133236
NM_004168.4(SDHA):c.1913del (p.Thr638fs) rs1554002857
NM_004168.4(SDHA):c.1918G>C (p.Glu640Gln)
NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys)
NM_004168.4(SDHA):c.1927C>A (p.Pro643Thr) rs1579448568
NM_004168.4(SDHA):c.1927C>T (p.Pro643Ser) rs1579448568
NM_004168.4(SDHA):c.1931T>G (p.Val644Gly)
NM_004168.4(SDHA):c.1933A>G (p.Ile645Val)
NM_004168.4(SDHA):c.193G>A (p.Val65Met)
NM_004168.4(SDHA):c.193G>T (p.Val65Leu)
NM_004168.4(SDHA):c.1940A>G (p.Lys647Arg) rs1737186768
NM_004168.4(SDHA):c.1943C>T (p.Thr648Ile)
NM_004168.4(SDHA):c.1943del (p.Thr648fs) rs2126645882
NM_004168.4(SDHA):c.1945T>G (p.Leu649Val) rs1737187966
NM_004168.4(SDHA):c.1946T>C (p.Leu649Ser)
NM_004168.4(SDHA):c.1946T>G (p.Leu649Trp) rs899598021
NM_004168.4(SDHA):c.194T>C (p.Val65Ala)
NM_004168.4(SDHA):c.1951G>C (p.Glu651Gln) rs375396913
NM_004168.4(SDHA):c.1951del (p.Glu651fs) rs1561016316
NM_004168.4(SDHA):c.1952A>G (p.Glu651Gly) rs1737189246
NM_004168.4(SDHA):c.1953G>T (p.Glu651Asp) rs1579448683
NM_004168.4(SDHA):c.1954G>A (p.Ala652Thr) rs1737189728
NM_004168.4(SDHA):c.1955C>T (p.Ala652Val) rs1554002888
NM_004168.4(SDHA):c.1958A>C (p.Asp653Ala) rs1737190360
NM_004168.4(SDHA):c.1958A>G (p.Asp653Gly)
NM_004168.4(SDHA):c.1958A>T (p.Asp653Val) rs1737190360
NM_004168.4(SDHA):c.1960T>A (p.Cys654Ser)
NM_004168.4(SDHA):c.1961G>C (p.Cys654Ser) rs1554002895
NM_004168.4(SDHA):c.1962_1963del (p.Ala655fs) rs2126645995
NM_004168.4(SDHA):c.1963G>C (p.Ala655Pro)
NM_004168.4(SDHA):c.1964C>T (p.Ala655Val)
NM_004168.4(SDHA):c.1966A>C (p.Thr656Pro)
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) rs6962
NM_004168.4(SDHA):c.1969_1980del (p.Val657_Ala660del)
NM_004168.4(SDHA):c.1972C>A (p.Pro658Thr) rs2126646066
NM_004168.4(SDHA):c.1972C>T (p.Pro658Ser)
NM_004168.4(SDHA):c.1975C>G (p.Pro659Ala)
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.1979C>T (p.Ala660Val) rs191412461
NM_004168.4(SDHA):c.1982T>C (p.Ile661Thr)
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) rs1737195067
NM_004168.4(SDHA):c.1988C>T (p.Ser663Phe) rs1060503719
NM_004168.4(SDHA):c.1990T>C (p.Tyr664His)
NM_004168.4(SDHA):c.199G>A (p.Val67Ile)
NM_004168.4(SDHA):c.19C>G (p.Leu7Val) rs760964443
NM_004168.4(SDHA):c.200T>C (p.Val67Ala)
NM_004168.4(SDHA):c.202G>A (p.Gly68Ser)
NM_004168.4(SDHA):c.204C>T (p.Gly68=) rs1055082816
NM_004168.4(SDHA):c.205G>T (p.Ala69Ser)
NM_004168.4(SDHA):c.209G>C (p.Gly70Ala) rs2126542624
NM_004168.4(SDHA):c.20T>C (p.Leu7Pro) rs1734500083
NM_004168.4(SDHA):c.211G>A (p.Gly71Arg) rs1734887299
NM_004168.4(SDHA):c.215C>T (p.Ala72Val) rs1204881025
NM_004168.4(SDHA):c.217G>A (p.Gly73Ser)
NM_004168.4(SDHA):c.218G>T (p.Gly73Val) rs1553997347
NM_004168.4(SDHA):c.221T>C (p.Leu74Ser) rs763220651
NM_004168.4(SDHA):c.222G>C (p.Leu74Phe)
NM_004168.4(SDHA):c.224G>C (p.Arg75Pro)
NM_004168.4(SDHA):c.227C>T (p.Ala76Val) rs1734888838
NM_004168.4(SDHA):c.22T>C (p.Ser8Pro) rs768328967
NM_004168.4(SDHA):c.233T>C (p.Phe78Ser)
NM_004168.4(SDHA):c.236G>A (p.Gly79Asp) rs759568419
NM_004168.4(SDHA):c.23C>T (p.Ser8Leu) rs878854631
NM_004168.4(SDHA):c.242C>T (p.Ser81Phe) rs1553997357
NM_004168.4(SDHA):c.246G>C (p.Glu82Asp)
NM_004168.4(SDHA):c.250G>A (p.Gly84Arg) rs2126542993
NM_004168.4(SDHA):c.250G>C (p.Gly84Arg)
NM_004168.4(SDHA):c.251G>A (p.Gly84Glu) rs199615452
NM_004168.4(SDHA):c.251G>C (p.Gly84Ala)
NM_004168.4(SDHA):c.256A>C (p.Asn86His)
NM_004168.4(SDHA):c.256A>G (p.Asn86Asp) rs200519133
NM_004168.4(SDHA):c.257A>G (p.Asn86Ser) rs2126543056
NM_004168.4(SDHA):c.25C>G (p.Arg9Gly) rs776218604
NM_004168.4(SDHA):c.262G>A (p.Ala88Thr) rs2126543077
NM_004168.4(SDHA):c.263C>A (p.Ala88Glu)
NM_004168.4(SDHA):c.263C>G (p.Ala88Gly) rs1734891785
NM_004168.4(SDHA):c.263C>T (p.Ala88Val) rs1734891785
NM_004168.4(SDHA):c.266G>A (p.Cys89Tyr) rs138016874
NM_004168.4(SDHA):c.268G>A (p.Val90Ile) rs2126543120
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.26G>A (p.Arg9Gln) rs761508577
NM_004168.4(SDHA):c.26G>T (p.Arg9Leu) rs761508577
NM_004168.4(SDHA):c.272C>T (p.Thr91Ile)
NM_004168.4(SDHA):c.274A>C (p.Lys92Gln) rs1734892884
NM_004168.4(SDHA):c.275A>G (p.Lys92Arg) rs778267118
NM_004168.4(SDHA):c.276G>C (p.Lys92Asn) rs375298039
NM_004168.4(SDHA):c.278T>C (p.Leu93Pro) rs1326611328
NM_004168.4(SDHA):c.283C>G (p.Pro95Ala)
NM_004168.4(SDHA):c.286A>G (p.Thr96Ala)
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) rs1579381851
NM_004168.4(SDHA):c.296A>G (p.His99Arg) rs1579381882
NM_004168.4(SDHA):c.298A>G (p.Thr100Ala)
NM_004168.4(SDHA):c.29T>C (p.Leu10Pro) rs2126522536
NM_004168.4(SDHA):c.301G>A (p.Val101Ile)
NM_004168.4(SDHA):c.301G>T (p.Val101Phe)
NM_004168.4(SDHA):c.304G>C (p.Ala102Pro)
NM_004168.4(SDHA):c.304_305delinsAT (p.Ala102Ile) rs1734896344
NM_004168.4(SDHA):c.305C>T (p.Ala102Val) rs1240528592
NM_004168.4(SDHA):c.307G>A (p.Ala103Thr) rs1553997389
NM_004168.4(SDHA):c.308C>T (p.Ala103Val)
NM_004168.4(SDHA):c.308_309inv (p.Ala103Val)
NM_004168.4(SDHA):c.310C>G (p.Gln104Glu)
NM_004168.4(SDHA):c.312+4A>C
NM_004168.4(SDHA):c.312+5G>C
NM_004168.4(SDHA):c.312G>A (p.Gln104=) rs2126543437
NM_004168.4(SDHA):c.313-11G>A rs1734951831
NM_004168.4(SDHA):c.313-12del
NM_004168.4(SDHA):c.313-13T>C
NM_004168.4(SDHA):c.313G>A (p.Gly105Arg) rs2126546583
NM_004168.4(SDHA):c.314_315delinsTT (p.Gly105Val) rs1734953252
NM_004168.4(SDHA):c.316G>C (p.Gly106Arg) rs1579383936
NM_004168.4(SDHA):c.319A>G (p.Ile107Val) rs1060503720
NM_004168.4(SDHA):c.320T>A (p.Ile107Asn) rs1734953616
NM_004168.4(SDHA):c.320T>G (p.Ile107Ser) rs1734953616
NM_004168.4(SDHA):c.321C>G (p.Ile107Met) rs1734953765
NM_004168.4(SDHA):c.322A>G (p.Asn108Asp)
NM_004168.4(SDHA):c.329C>T (p.Ala110Val)
NM_004168.4(SDHA):c.32T>A (p.Leu11Gln) rs1139422
NM_004168.4(SDHA):c.32T>G (p.Leu11Arg)
NM_004168.4(SDHA):c.334G>A (p.Gly112Arg) rs751114575
NM_004168.4(SDHA):c.337A>G (p.Asn113Asp) rs1450249875
NM_004168.4(SDHA):c.338A>C (p.Asn113Thr) rs1734955271
NM_004168.4(SDHA):c.338A>G (p.Asn113Ser) rs1734955271
NM_004168.4(SDHA):c.338A>T (p.Asn113Ile) rs1734955271
NM_004168.4(SDHA):c.341T>A (p.Met114Lys)
NM_004168.4(SDHA):c.342GGA[2] (p.Glu116del) rs1734955897
NM_004168.4(SDHA):c.345G>C (p.Glu115Asp) rs368286780
NM_004168.4(SDHA):c.346G>A (p.Glu116Lys)
NM_004168.4(SDHA):c.347A>G (p.Glu116Gly)
NM_004168.4(SDHA):c.349G>A (p.Asp117Asn) rs2126546832
NM_004168.4(SDHA):c.34A>G (p.Ser12Gly) rs1734501874
NM_004168.4(SDHA):c.350A>G (p.Asp117Gly) rs1579384062
NM_004168.4(SDHA):c.353A>G (p.Asn118Ser) rs987288514
NM_004168.4(SDHA):c.355T>C (p.Trp119Arg) rs1734957208
NM_004168.4(SDHA):c.359G>A (p.Arg120Lys) rs2126546923
NM_004168.4(SDHA):c.364C>A (p.His122Asn)
NM_004168.4(SDHA):c.365A>G (p.His122Arg) rs1579384131
NM_004168.4(SDHA):c.368T>G (p.Phe123Cys)
NM_004168.4(SDHA):c.369C>G (p.Phe123Leu) rs1579384137
NM_004168.4(SDHA):c.36C>A (p.Ser12Arg) rs1734502045
NM_004168.4(SDHA):c.370T>C (p.Tyr124His) rs2126546996
NM_004168.4(SDHA):c.371_372inv (p.Tyr124Cys)
NM_004168.4(SDHA):c.373G>C (p.Asp125His) rs780654623
NM_004168.4(SDHA):c.376A>G (p.Thr126Ala)
NM_004168.4(SDHA):c.377C>T (p.Thr126Ile)
NM_004168.4(SDHA):c.37G>A (p.Ala13Thr)
NM_004168.4(SDHA):c.383A>G (p.Lys128Arg)
NM_004168.4(SDHA):c.386G>A (p.Gly129Asp) rs2126547166
NM_004168.4(SDHA):c.388T>A (p.Ser130Thr)
NM_004168.4(SDHA):c.389C>G (p.Ser130Cys) rs1553997625
NM_004168.4(SDHA):c.38C>A (p.Ala13Asp)
NM_004168.4(SDHA):c.392A>G (p.Asp131Gly) rs2126547239
NM_004168.4(SDHA):c.396G>T (p.Trp132Cys) rs1734960239
NM_004168.4(SDHA):c.397C>G (p.Leu133Val) rs2126547261
NM_004168.4(SDHA):c.401G>T (p.Gly134Val)
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.407A>T (p.Gln136Leu) rs876660259
NM_004168.4(SDHA):c.409G>T (p.Asp137Tyr) rs1734961262
NM_004168.4(SDHA):c.40C>G (p.Arg14Gly) rs1192077362
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp) rs1192077362
NM_004168.4(SDHA):c.410A>T (p.Asp137Val)
NM_004168.4(SDHA):c.411T>A (p.Asp137Glu) rs1444399160
NM_004168.4(SDHA):c.411T>G (p.Asp137Glu) rs1444399160
NM_004168.4(SDHA):c.412G>A (p.Ala138Thr)
NM_004168.4(SDHA):c.412G>T (p.Ala138Ser)
NM_004168.4(SDHA):c.413C>T (p.Ala138Val) rs1342456775
NM_004168.4(SDHA):c.415A>G (p.Ile139Val)
NM_004168.4(SDHA):c.418C>T (p.His140Tyr)
NM_004168.4(SDHA):c.419A>G (p.His140Arg) rs759266253
NM_004168.4(SDHA):c.41G>C (p.Arg14Pro)
NM_004168.4(SDHA):c.421T>A (p.Tyr141Asn)
NM_004168.4(SDHA):c.421T>C (p.Tyr141His) rs1553997643
NM_004168.4(SDHA):c.421T>G (p.Tyr141Asp) rs1553997643
NM_004168.4(SDHA):c.424A>C (p.Met142Leu) rs776848209
NM_004168.4(SDHA):c.425_426delinsAC (p.Met142Asn) rs2126547518
NM_004168.4(SDHA):c.428C>T (p.Thr143Met) rs200675907
NM_004168.4(SDHA):c.431A>C (p.Glu144Ala)
NM_004168.4(SDHA):c.434A>G (p.Gln145Arg)
NM_004168.4(SDHA):c.436G>A (p.Ala146Thr)
NM_004168.4(SDHA):c.436G>C (p.Ala146Pro)
NM_004168.4(SDHA):c.437C>T (p.Ala146Val) rs1060503714
NM_004168.4(SDHA):c.440C>A (p.Pro147His) rs763191656
NM_004168.4(SDHA):c.442G>T (p.Ala148Ser) rs375576259
NM_004168.4(SDHA):c.446C>T (p.Ala149Val) rs1060503709
NM_004168.4(SDHA):c.44G>C (p.Arg15Pro) rs1060503707
NM_004168.4(SDHA):c.44G>T (p.Arg15Leu)
NM_004168.4(SDHA):c.454G>C (p.Glu152Gln) rs778737664
NM_004168.4(SDHA):c.456+12G>A
NM_004168.4(SDHA):c.456+12G>C
NM_004168.4(SDHA):c.456+3G>T rs1362754028
NM_004168.4(SDHA):c.456+3_456+4delinsCT rs1734966566
NM_004168.4(SDHA):c.456+4A>T
NM_004168.4(SDHA):c.456+4del
NM_004168.4(SDHA):c.456+6G>A
NM_004168.4(SDHA):c.456+6G>C
NM_004168.4(SDHA):c.456+7G>A
NM_004168.4(SDHA):c.456G>A (p.Glu152=) rs1579384590
NM_004168.4(SDHA):c.457-3C>T
NM_004168.4(SDHA):c.457-4A>T
NM_004168.4(SDHA):c.457C>A (p.Leu153Ile)
NM_004168.4(SDHA):c.457C>T (p.Leu153=)
NM_004168.4(SDHA):c.460G>A (p.Glu154Lys) rs1560987595
NM_004168.4(SDHA):c.465T>G (p.Asn155Lys)
NM_004168.4(SDHA):c.466T>C (p.Tyr156His)
NM_004168.4(SDHA):c.467A>G (p.Tyr156Cys)
NM_004168.4(SDHA):c.467A>T (p.Tyr156Phe) rs774589410
NM_004168.4(SDHA):c.469G>A (p.Gly157Ser) rs1734987233
NM_004168.4(SDHA):c.470G>T (p.Gly157Val)
NM_004168.4(SDHA):c.472A>G (p.Met158Val) rs2126549328
NM_004168.4(SDHA):c.474G>A (p.Met158Ile)
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.481A>G (p.Ser161Gly)
NM_004168.4(SDHA):c.482G>A (p.Ser161Asn) rs2126549411
NM_004168.4(SDHA):c.483C>G (p.Ser161Arg)
NM_004168.4(SDHA):c.484A>G (p.Arg162Gly) rs1579385526
NM_004168.4(SDHA):c.485G>A (p.Arg162Lys)
NM_004168.4(SDHA):c.485G>C (p.Arg162Thr) rs1579385540
NM_004168.4(SDHA):c.488C>A (p.Thr163Asn) rs375067326
NM_004168.4(SDHA):c.494A>G (p.Asp165Gly) rs1734989377
NM_004168.4(SDHA):c.494A>T (p.Asp165Val)
NM_004168.4(SDHA):c.496G>A (p.Gly166Arg) rs1060503712
NM_004168.4(SDHA):c.497G>A (p.Gly166Glu)
NM_004168.4(SDHA):c.498G>T (p.Gly166=) rs1579385582
NM_004168.4(SDHA):c.49G>A (p.Ala17Thr)
NM_004168.4(SDHA):c.4T>C (p.Ser2Pro) rs758327622
NM_004168.4(SDHA):c.4T>G (p.Ser2Ala) rs758327622
NM_004168.4(SDHA):c.502A>G (p.Ile168Val) rs1734989945
NM_004168.4(SDHA):c.503T>C (p.Ile168Thr) rs1553997748
NM_004168.4(SDHA):c.505T>C (p.Tyr169His) rs1553997754
NM_004168.4(SDHA):c.506A>G (p.Tyr169Cys)
NM_004168.4(SDHA):c.506A>T (p.Tyr169Phe)
NM_004168.4(SDHA):c.508C>A (p.Gln170Lys) rs1579385645
NM_004168.4(SDHA):c.509A>G (p.Gln170Arg)
NM_004168.4(SDHA):c.509A>T (p.Gln170Leu) rs2126549625
NM_004168.4(SDHA):c.50C>A (p.Ala17Glu)
NM_004168.4(SDHA):c.50C>T (p.Ala17Val)
NM_004168.4(SDHA):c.510G>C (p.Gln170His) rs1579385651
NM_004168.4(SDHA):c.512G>C (p.Arg171Pro)
NM_004168.4(SDHA):c.514G>A (p.Ala172Thr) rs1734991441
NM_004168.4(SDHA):c.515C>A (p.Ala172Glu)
NM_004168.4(SDHA):c.515C>T (p.Ala172Val) rs1734991593
NM_004168.4(SDHA):c.523G>A (p.Gly175Arg) rs753004001
NM_004168.4(SDHA):c.523G>C (p.Gly175Arg) rs753004001
NM_004168.4(SDHA):c.528G>C (p.Gln176His) rs769454045
NM_004168.4(SDHA):c.52C>G (p.Leu18Val) rs1553996372
NM_004168.4(SDHA):c.530G>A (p.Ser177Asn) rs1553997783
NM_004168.4(SDHA):c.530G>T (p.Ser177Ile)
NM_004168.4(SDHA):c.531C>G (p.Ser177Arg)
NM_004168.4(SDHA):c.536A>G (p.Lys179Arg)
NM_004168.4(SDHA):c.539T>C (p.Phe180Ser)
NM_004168.4(SDHA):c.53T>A (p.Leu18Gln)
NM_004168.4(SDHA):c.545A>G (p.Lys182Arg)
NM_004168.4(SDHA):c.548G>A (p.Gly183Asp) rs1734993975
NM_004168.4(SDHA):c.551G>A (p.Gly184Glu) rs1579385819
NM_004168.4(SDHA):c.551G>C (p.Gly184Ala) rs1579385819
NM_004168.4(SDHA):c.553C>G (p.Gln185Glu) rs775827529
NM_004168.4(SDHA):c.556G>A (p.Ala186Thr)
NM_004168.4(SDHA):c.556G>T (p.Ala186Ser)
NM_004168.4(SDHA):c.557C>T (p.Ala186Val) rs2126550013
NM_004168.4(SDHA):c.559C>T (p.His187Tyr) rs1579385898
NM_004168.4(SDHA):c.55G>A (p.Ala19Thr) rs1560980986
NM_004168.4(SDHA):c.565T>C (p.Cys189Arg) rs1734996495
NM_004168.4(SDHA):c.568T>A (p.Cys190Ser) rs908267345
NM_004168.4(SDHA):c.56C>G (p.Ala19Gly) rs2126522773
NM_004168.4(SDHA):c.571T>C (p.Cys191Arg) rs2126550176
NM_004168.4(SDHA):c.572G>C (p.Cys191Ser) rs1393298155
NM_004168.4(SDHA):c.578C>G (p.Ala193Gly) rs1734997662
NM_004168.4(SDHA):c.578C>T (p.Ala193Val) rs1734997662
NM_004168.4(SDHA):c.580G>A (p.Asp194Asn)
NM_004168.4(SDHA):c.583C>G (p.Arg195Gly) rs1337777456
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.586A>G (p.Thr196Ala)
NM_004168.4(SDHA):c.587C>T (p.Thr196Ile) rs1560987863
NM_004168.4(SDHA):c.589G>A (p.Gly197Ser) rs1560987881
NM_004168.4(SDHA):c.589G>C (p.Gly197Arg) rs1560987881
NM_004168.4(SDHA):c.58A>G (p.Lys20Glu) rs1734504263
NM_004168.4(SDHA):c.590G>A (p.Gly197Asp) rs1579386052
NM_004168.4(SDHA):c.596C>G (p.Ser199Trp)
NM_004168.4(SDHA):c.598C>A (p.Leu200Ile) rs764307917
NM_004168.4(SDHA):c.602T>C (p.Leu201Ser) rs150646390
NM_004168.4(SDHA):c.604C>G (p.His202Asp)
NM_004168.4(SDHA):c.608C>G (p.Thr203Ser) rs1735001122
NM_004168.4(SDHA):c.608C>T (p.Thr203Ile) rs1735001122
NM_004168.4(SDHA):c.60G>T (p.Lys20Asn)
NM_004168.4(SDHA):c.611T>C (p.Leu204Ser)
NM_004168.4(SDHA):c.614A>G (p.Tyr205Cys)
NM_004168.4(SDHA):c.619A>G (p.Arg207Gly) rs6555055
NM_004168.4(SDHA):c.619A>T (p.Arg207Trp) rs6555055
NM_004168.4(SDHA):c.619_620delinsCA (p.Arg207Gln) rs2126550631
NM_004168.4(SDHA):c.61G>A (p.Ala21Thr) rs1553996375
NM_004168.4(SDHA):c.620G>A (p.Arg207Lys) rs780411478
NM_004168.4(SDHA):c.620G>C (p.Arg207Thr) rs780411478
NM_004168.4(SDHA):c.621+3A>G
NM_004168.4(SDHA):c.621G>A (p.Arg207=) rs2126550683
NM_004168.4(SDHA):c.621G>C (p.Arg207Ser)
NM_004168.4(SDHA):c.622T>C (p.Ser208Pro)
NM_004168.4(SDHA):c.625C>G (p.Leu209Val)
NM_004168.4(SDHA):c.626T>C (p.Leu209Pro) rs1579390858
NM_004168.4(SDHA):c.62C>A (p.Ala21Glu) rs2126522821
NM_004168.4(SDHA):c.62C>T (p.Ala21Val) rs2126522821
NM_004168.4(SDHA):c.63+3G>A
NM_004168.4(SDHA):c.63+3del rs1734505446
NM_004168.4(SDHA):c.63+4A>G
NM_004168.4(SDHA):c.63+7C>A
NM_004168.4(SDHA):c.632A>T (p.Tyr211Phe) rs1235961098
NM_004168.4(SDHA):c.634_636delinsACC (p.Asp212Thr)
NM_004168.4(SDHA):c.635A>G (p.Asp212Gly) rs750531440
NM_004168.4(SDHA):c.637A>G (p.Thr213Ala)
NM_004168.4(SDHA):c.638C>A (p.Thr213Asn) rs766421069
NM_004168.4(SDHA):c.638C>T (p.Thr213Ile) rs766421069
NM_004168.4(SDHA):c.63G>A (p.Ala21=) rs587781942
NM_004168.4(SDHA):c.64-16T>G
NM_004168.4(SDHA):c.64-7T>G rs1579379588
NM_004168.4(SDHA):c.646T>C (p.Phe216Leu) rs1735162987
NM_004168.4(SDHA):c.649G>C (p.Val217Leu) rs1735163272
NM_004168.4(SDHA):c.64T>C (p.Trp22Arg) rs2126539375
NM_004168.4(SDHA):c.650T>C (p.Val217Ala)
NM_004168.4(SDHA):c.653A>T (p.Glu218Val) rs1735163544
NM_004168.4(SDHA):c.654G>T (p.Glu218Asp)
NM_004168.4(SDHA):c.656A>G (p.Tyr219Cys)
NM_004168.4(SDHA):c.662C>G (p.Ala221Gly) rs1735163984
NM_004168.4(SDHA):c.664T>G (p.Leu222Val) rs1553998191
NM_004168.4(SDHA):c.665T>C (p.Leu222Ser)
NM_004168.4(SDHA):c.667G>A (p.Asp223Asn)
NM_004168.4(SDHA):c.667G>C (p.Asp223His) rs1579391108
NM_004168.4(SDHA):c.667G>T (p.Asp223Tyr) rs1579391108
NM_004168.4(SDHA):c.668A>C (p.Asp223Ala) rs2126558436
NM_004168.4(SDHA):c.670C>A (p.Leu224Ile)
NM_004168.4(SDHA):c.670C>T (p.Leu224Phe)
NM_004168.4(SDHA):c.674T>C (p.Leu225Pro) rs2126558482
NM_004168.4(SDHA):c.676A>T (p.Met226Leu) rs1579391135
NM_004168.4(SDHA):c.677T>A (p.Met226Lys)
NM_004168.4(SDHA):c.677T>C (p.Met226Thr) rs1735165932
NM_004168.4(SDHA):c.678G>A (p.Met226Ile) rs745884899
NM_004168.4(SDHA):c.681G>T (p.Glu227Asp)
NM_004168.4(SDHA):c.682A>T (p.Asn228Tyr) rs2126558556
NM_004168.4(SDHA):c.683A>G (p.Asn228Ser) rs2126558564
NM_004168.4(SDHA):c.684_685inv (p.Gly229Arg)
NM_004168.4(SDHA):c.688G>A (p.Glu230Lys)
NM_004168.4(SDHA):c.688G>C (p.Glu230Gln) rs1436777353
NM_004168.4(SDHA):c.692G>T (p.Cys231Phe)
NM_004168.4(SDHA):c.695G>A (p.Arg232His) rs1060503708
NM_004168.4(SDHA):c.697G>A (p.Gly233Ser) rs2126558729
NM_004168.4(SDHA):c.698G>A (p.Gly233Asp) rs878854636
NM_004168.4(SDHA):c.698G>T (p.Gly233Val) rs878854636
NM_004168.4(SDHA):c.700G>A (p.Val234Ile) rs2126558764
NM_004168.4(SDHA):c.703A>G (p.Ile235Val)
NM_004168.4(SDHA):c.709C>G (p.Leu237Val)
NM_004168.4(SDHA):c.70A>G (p.Thr24Ala) rs1579379632
NM_004168.4(SDHA):c.712T>G (p.Cys238Gly) rs1579391373
NM_004168.4(SDHA):c.713G>A (p.Cys238Tyr)
NM_004168.4(SDHA):c.713G>C (p.Cys238Ser) rs1168458733
NM_004168.4(SDHA):c.713G>T (p.Cys238Phe) rs1168458733
NM_004168.4(SDHA):c.715A>C (p.Ile239Leu) rs760106352
NM_004168.4(SDHA):c.715A>G (p.Ile239Val) rs760106352
NM_004168.4(SDHA):c.716T>C (p.Ile239Thr) rs1466069757
NM_004168.4(SDHA):c.716T>G (p.Ile239Arg)
NM_004168.4(SDHA):c.718G>A (p.Glu240Lys) rs1041946
NM_004168.4(SDHA):c.719A>C (p.Glu240Ala)
NM_004168.4(SDHA):c.71C>G (p.Thr24Arg)
NM_004168.4(SDHA):c.720_722del (p.Glu240del) rs1560990000
NM_004168.4(SDHA):c.727T>C (p.Ser243Pro)
NM_004168.4(SDHA):c.728C>G (p.Ser243Cys) rs756966025
NM_004168.4(SDHA):c.728C>T (p.Ser243Phe) rs756966025
NM_004168.4(SDHA):c.733C>G (p.His245Asp) rs1060503716
NM_004168.4(SDHA):c.734A>G (p.His245Arg) rs1579391515
NM_004168.4(SDHA):c.734A>T (p.His245Leu) rs1579391515
NM_004168.4(SDHA):c.736C>T (p.Arg246Cys) rs1579391530
NM_004168.4(SDHA):c.737G>A (p.Arg246His) rs745309710
NM_004168.4(SDHA):c.737G>T (p.Arg246Leu) rs745309710
NM_004168.4(SDHA):c.741A>G (p.Ile247Met) rs1735177782
NM_004168.4(SDHA):c.743G>C (p.Arg248Thr)
NM_004168.4(SDHA):c.748A>G (p.Lys250Glu) rs1735177925
NM_004168.4(SDHA):c.749A>G (p.Lys250Arg) rs1060503700
NM_004168.4(SDHA):c.74T>C (p.Val25Ala) rs2126539437
NM_004168.4(SDHA):c.751A>G (p.Asn251Asp)
NM_004168.4(SDHA):c.752A>G (p.Asn251Ser)
NM_004168.4(SDHA):c.757G>A (p.Val253Ile) rs1126412
NM_004168.4(SDHA):c.757G>C (p.Val253Leu)
NM_004168.4(SDHA):c.758TTG[1] (p.Val254del)
NM_004168.4(SDHA):c.763G>A (p.Ala255Thr) rs1735179887
NM_004168.4(SDHA):c.766A>T (p.Thr256Ser) rs1409070000
NM_004168.4(SDHA):c.767C>T (p.Thr256Ile) rs2126559328
NM_004168.4(SDHA):c.769G>A (p.Gly257Arg)
NM_004168.4(SDHA):c.770+1147T>G
NM_004168.4(SDHA):c.770+3A>G
NM_004168.4(SDHA):c.770G>A (p.Gly257Glu) rs749566947
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala) rs749566947
NM_004168.4(SDHA):c.772G>T (p.Gly258Cys)
NM_004168.4(SDHA):c.773G>A (p.Gly258Asp)
NM_004168.4(SDHA):c.779G>A (p.Gly260Glu)
NM_004168.4(SDHA):c.785C>A (p.Thr262Asn)
NM_004168.4(SDHA):c.785C>T (p.Thr262Ile) rs1579397115
NM_004168.4(SDHA):c.788A>G (p.Tyr263Cys) rs2126567907
NM_004168.4(SDHA):c.791T>A (p.Phe264Tyr)
NM_004168.4(SDHA):c.791T>G (p.Phe264Cys) rs2126567940
NM_004168.4(SDHA):c.793A>T (p.Ser265Cys) rs2126567967
NM_004168.4(SDHA):c.796T>C (p.Cys266Arg) rs1579397179
NM_004168.4(SDHA):c.797G>C (p.Cys266Ser)
NM_004168.4(SDHA):c.79C>G (p.Gln27Glu) rs1734829878
NM_004168.4(SDHA):c.7G>A (p.Gly3Arg)
NM_004168.4(SDHA):c.7G>C (p.Gly3Arg) rs756415935
NM_004168.4(SDHA):c.7G>T (p.Gly3Trp) rs756415935
NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer)
NM_004168.4(SDHA):c.805G>A (p.Ala269Thr) rs1579397217
NM_004168.4(SDHA):c.809_814del (p.His270_Ser272delinsArg) rs2126568112
NM_004168.4(SDHA):c.80A>T (p.Gln27Leu)
NM_004168.4(SDHA):c.812C>T (p.Thr271Ile) rs765611464
NM_004168.4(SDHA):c.814A>G (p.Ser272Gly)
NM_004168.4(SDHA):c.817A>G (p.Thr273Ala) rs1735357615
NM_004168.4(SDHA):c.823G>A (p.Asp275Asn) rs1553998629
NM_004168.4(SDHA):c.829A>G (p.Thr277Ala) rs1553998638
NM_004168.4(SDHA):c.830C>A (p.Thr277Lys) rs367721665
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.835A>T (p.Met279Leu) rs755913710
NM_004168.4(SDHA):c.836T>C (p.Met279Thr) rs777595710
NM_004168.4(SDHA):c.837G>A (p.Met279Ile)
NM_004168.4(SDHA):c.837G>C (p.Met279Ile)
NM_004168.4(SDHA):c.837G>T (p.Met279Ile) rs746145822
NM_004168.4(SDHA):c.839T>A (p.Ile280Asn) rs2126568391
NM_004168.4(SDHA):c.83C>T (p.Thr28Ile) rs1171584124
NM_004168.4(SDHA):c.840C>G (p.Ile280Met) rs2126568400
NM_004168.4(SDHA):c.841A>C (p.Thr281Pro)
NM_004168.4(SDHA):c.842C>A (p.Thr281Asn)
NM_004168.4(SDHA):c.842C>G (p.Thr281Ser)
NM_004168.4(SDHA):c.842C>T (p.Thr281Ile)
NM_004168.4(SDHA):c.844A>G (p.Arg282Gly) rs1553998658
NM_004168.4(SDHA):c.845G>A (p.Arg282Lys)
NM_004168.4(SDHA):c.845G>C (p.Arg282Thr) rs1735361111
NM_004168.4(SDHA):c.848C>T (p.Ala283Val)
NM_004168.4(SDHA):c.856C>T (p.Pro286Ser) rs1579397496
NM_004168.4(SDHA):c.859T>A (p.Cys287Ser) rs2126568567
NM_004168.4(SDHA):c.865G>A (p.Asp289Asn)
NM_004168.4(SDHA):c.865G>T (p.Asp289Tyr) rs2126568625
NM_004168.4(SDHA):c.867C>G (p.Asp289Glu)
NM_004168.4(SDHA):c.871G>A (p.Glu291Lys) rs1579397516
NM_004168.4(SDHA):c.872A>C (p.Glu291Ala)
NM_004168.4(SDHA):c.872A>G (p.Glu291Gly)
NM_004168.4(SDHA):c.872A>T (p.Glu291Val) rs1336029027
NM_004168.4(SDHA):c.875T>G (p.Phe292Cys) rs2126568674
NM_004168.4(SDHA):c.880C>A (p.Gln294Lys)
NM_004168.4(SDHA):c.882G>T (p.Gln294His) rs371512265
NM_004168.4(SDHA):c.884T>A (p.Phe295Tyr) rs1735363396
NM_004168.4(SDHA):c.886C>T (p.His296Tyr) rs1579397566
NM_004168.4(SDHA):c.88A>G (p.Thr30Ala) rs2126539529
NM_004168.4(SDHA):c.890_891delinsTC (p.Pro297Leu) rs1579397592
NM_004168.4(SDHA):c.892A>G (p.Thr298Ala)
NM_004168.4(SDHA):c.895+3A>G
NM_004168.4(SDHA):c.895+4G>A rs1735364791
NM_004168.4(SDHA):c.895+4G>C
NM_004168.4(SDHA):c.895G>A (p.Gly299Ser)
NM_004168.4(SDHA):c.896-3C>T rs1735543080
NM_004168.4(SDHA):c.898A>C (p.Ile300Leu) rs1448561231
NM_004168.4(SDHA):c.898A>G (p.Ile300Val)
NM_004168.4(SDHA):c.899T>C (p.Ile300Thr) rs878854637
NM_004168.4(SDHA):c.89C>T (p.Thr30Ile) rs1560985157
NM_004168.4(SDHA):c.8G>A (p.Gly3Glu)
NM_004168.4(SDHA):c.8G>C (p.Gly3Ala) rs1398198098
NM_004168.4(SDHA):c.900A>G (p.Ile300Met) rs1735543603
NM_004168.4(SDHA):c.905G>A (p.Gly302Asp) rs1735544082
NM_004168.4(SDHA):c.907G>T (p.Ala303Ser) rs2126576840
NM_004168.4(SDHA):c.914G>T (p.Cys305Phe) rs878854638
NM_004168.4(SDHA):c.916C>G (p.Leu306Val) rs1735544893
NM_004168.4(SDHA):c.917T>C (p.Leu306Pro) rs1477142607
NM_004168.4(SDHA):c.919A>C (p.Ile307Leu)
NM_004168.4(SDHA):c.920T>C (p.Ile307Thr)
NM_004168.4(SDHA):c.922A>G (p.Thr308Ala)
NM_004168.4(SDHA):c.923C>A (p.Thr308Lys)
NM_004168.4(SDHA):c.926A>G (p.Glu309Gly) rs1735547863
NM_004168.4(SDHA):c.928G>A (p.Gly310Arg)
NM_004168.4(SDHA):c.928G>C (p.Gly310Arg)
NM_004168.4(SDHA):c.929G>A (p.Gly310Glu)
NM_004168.4(SDHA):c.934C>T (p.Arg312Cys) rs1735549033
NM_004168.4(SDHA):c.934_936del (p.Arg312del) rs1735548711
NM_004168.4(SDHA):c.935G>A (p.Arg312His) rs876660932
NM_004168.4(SDHA):c.935G>C (p.Arg312Pro) rs876660932
NM_004168.4(SDHA):c.935G>T (p.Arg312Leu) rs876660932
NM_004168.4(SDHA):c.940G>A (p.Glu314Lys) rs1337704280
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) rs1735550179
NM_004168.4(SDHA):c.941A>G (p.Glu314Gly) rs1735550179
NM_004168.4(SDHA):c.944G>A (p.Gly315Glu) rs1579402194
NM_004168.4(SDHA):c.946G>A (p.Gly316Ser)
NM_004168.4(SDHA):c.949A>G (p.Ile317Val)
NM_004168.4(SDHA):c.94G>C (p.Gly32Arg) rs1734831542
NM_004168.4(SDHA):c.950T>C (p.Ile317Thr) rs903136919
NM_004168.4(SDHA):c.952C>T (p.Leu318Phe) rs1735551482
NM_004168.4(SDHA):c.955A>G (p.Ile319Val) rs377509915
NM_004168.4(SDHA):c.959A>G (p.Asn320Ser) rs765092091
NM_004168.4(SDHA):c.964C>G (p.Gln322Glu)
NM_004168.4(SDHA):c.965A>C (p.Gln322Pro) rs1553998989
NM_004168.4(SDHA):c.967G>A (p.Gly323Ser) rs1553998991
NM_004168.4(SDHA):c.974G>T (p.Arg325Met) rs1735554223
NM_004168.4(SDHA):c.976T>A (p.Phe326Ile)
NM_004168.4(SDHA):c.976T>C (p.Phe326Leu)
NM_004168.4(SDHA):c.977T>A (p.Phe326Tyr) rs1735554652
NM_004168.4(SDHA):c.979A>G (p.Met327Val) rs1285443776
NM_004168.4(SDHA):c.97T>C (p.Phe33Leu)
NM_004168.4(SDHA):c.980T>C (p.Met327Thr) rs2126577482
NM_004168.4(SDHA):c.982G>A (p.Glu328Lys)
NM_004168.4(SDHA):c.982G>C (p.Glu328Gln) rs778297896
NM_004168.4(SDHA):c.985C>G (p.Arg329Gly) rs771328239
NM_004168.4(SDHA):c.986G>C (p.Arg329Pro)
NM_004168.4(SDHA):c.986G>T (p.Arg329Leu)
NM_004168.4(SDHA):c.988T>A (p.Tyr330Asn)
NM_004168.4(SDHA):c.98T>C (p.Phe33Ser) rs1734831975
NM_004168.4(SDHA):c.991G>T (p.Ala331Ser) rs200526913
NM_004168.4(SDHA):c.991_992delinsAA (p.Ala331Asn)
NM_004168.4(SDHA):c.992C>G (p.Ala331Gly) rs1206201147
NM_004168.4(SDHA):c.992C>T (p.Ala331Val) rs1206201147
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_004168.4(SDHA):c.996_997inv (p.Val333Ile)
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_004168.4(SDHA):c.997G>C (p.Val333Leu) rs1062468
NM_004168.4(SDHA):c.997G>T (p.Val333Phe)
NM_004281.4(BAG3):c.*455G>A rs978995119
NM_004281.4(BAG3):c.*469A>G rs1847262118
NM_004281.4(BAG3):c.-285C>T rs866276705
NM_004281.4(BAG3):c.-319C>T rs987450541
NM_004281.4(BAG3):c.-87G>T rs879223257
NM_004281.4(BAG3):c.1026C>G (p.Ile342Met)
NM_004281.4(BAG3):c.1028G>A (p.Arg343His) rs774085746
NM_004281.4(BAG3):c.1028G>T (p.Arg343Leu) rs774085746
NM_004281.4(BAG3):c.1032A>T (p.Lys344Asn) rs2134068785
NM_004281.4(BAG3):c.103G>T (p.Gly35Cys) rs200072558
NM_004281.4(BAG3):c.1047A>T (p.Lys349Asn)
NM_004281.4(BAG3):c.1048C>T (p.Pro350Ser)
NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)
NM_004281.4(BAG3):c.104G>T (p.Gly35Val)
NM_004281.4(BAG3):c.1054T>A (p.Ser352Thr)
NM_004281.4(BAG3):c.1054T>C (p.Ser352Pro)
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys) rs1564776574
NM_004281.4(BAG3):c.1060A>G (p.Lys354Glu)
NM_004281.4(BAG3):c.1061A>G (p.Lys354Arg)
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser) rs761188869
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
NM_004281.4(BAG3):c.1073C>G (p.Pro358Arg)
NM_004281.4(BAG3):c.1078G>C (p.Glu360Gln) rs2134068848
NM_004281.4(BAG3):c.1083G>C (p.Lys361Asn) rs1060504722
NM_004281.4(BAG3):c.1084G>A (p.Val362Ile)
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala) rs1345725468
NM_004281.4(BAG3):c.1093A>C (p.Lys365Gln)
NM_004281.4(BAG3):c.1096G>A (p.Val366Ile) rs1215731985
NM_004281.4(BAG3):c.1097T>C (p.Val366Ala)
NM_004281.4(BAG3):c.1100C>T (p.Pro367Leu)
NM_004281.4(BAG3):c.1105G>C (p.Ala369Pro) rs772900053
NM_004281.4(BAG3):c.1106C>T (p.Ala369Val)
NM_004281.4(BAG3):c.1108C>G (p.Pro370Ala)
NM_004281.4(BAG3):c.1114C>T (p.Pro372Ser)
NM_004281.4(BAG3):c.1118G>C (p.Cys373Ser) rs876657745
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
NM_004281.4(BAG3):c.1121C>T (p.Pro374Leu) rs770517568
NM_004281.4(BAG3):c.1126C>G (p.Pro376Ala)
NM_004281.4(BAG3):c.1126C>T (p.Pro376Ser) rs1180366101
NM_004281.4(BAG3):c.1127C>A (p.Pro376His) rs2134068908
NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del) rs1064796808
NM_004281.4(BAG3):c.1133C>G (p.Pro378Arg) rs1847240427
NM_004281.4(BAG3):c.1148T>C (p.Val383Ala)
NM_004281.4(BAG3):c.1151C>T (p.Pro384Leu)
NM_004281.4(BAG3):c.1155_1157dup (p.Ser386dup) rs751357335
NM_004281.4(BAG3):c.1156T>G (p.Ser386Ala) rs1554877763
NM_004281.4(BAG3):c.1159C>T (p.Pro387Ser) rs780162994
NM_004281.4(BAG3):c.115T>A (p.Phe39Ile)
NM_004281.4(BAG3):c.1165A>G (p.Ser389Gly)
NM_004281.4(BAG3):c.1167T>G (p.Ser389Arg)
NM_004281.4(BAG3):c.1169T>G (p.Val390Gly)
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser) rs1472915271
NM_004281.4(BAG3):c.1174A>G (p.Thr392Ala) rs2134068984
NM_004281.4(BAG3):c.1187C>T (p.Ala396Val) rs769416305
NM_004281.4(BAG3):c.118G>T (p.Val40Leu)
NM_004281.4(BAG3):c.1199C>T (p.Thr400Ile) rs1060502817
NM_004281.4(BAG3):c.1202C>T (p.Ala401Val) rs775153939
NM_004281.4(BAG3):c.1210G>A (p.Glu404Lys) rs1165453591
NM_004281.4(BAG3):c.1213G>T (p.Ala405Ser) rs1416464425
NM_004281.4(BAG3):c.1219C>G (p.Pro407Ala)
NM_004281.4(BAG3):c.1219C>T (p.Pro407Ser)
NM_004281.4(BAG3):c.1225A>C (p.Lys409Gln)
NM_004281.4(BAG3):c.122A>G (p.Asp41Gly) rs2134050615
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del) rs761727804
NM_004281.4(BAG3):c.1238C>G (p.Ala413Gly)
NM_004281.4(BAG3):c.1241A>G (p.Glu414Gly) rs2134069093
NM_004281.4(BAG3):c.1242G>C (p.Glu414Asp) rs1847243505
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser) rs1248733449
NM_004281.4(BAG3):c.1244C>A (p.Ala415Asp) rs1847243574
NM_004281.4(BAG3):c.1246C>T (p.Pro416Ser)
NM_004281.4(BAG3):c.1249C>T (p.Pro417Ser) rs1589632706
NM_004281.4(BAG3):c.1252A>G (p.Lys418Glu)
NM_004281.4(BAG3):c.1258C>G (p.Pro420Ala)
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu) rs1303615373
NM_004281.4(BAG3):c.125A>G (p.His42Arg) rs1846844504
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu) rs886039025
NM_004281.4(BAG3):c.126C>G (p.His42Gln)
NM_004281.4(BAG3):c.1286T>C (p.Leu429Pro) rs1847244354
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg) rs886046755
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly) rs1847245034
NM_004281.4(BAG3):c.1307A>T (p.Glu436Val)
NM_004281.4(BAG3):c.130A>C (p.Ser44Arg)
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn) rs878854652
NM_004281.4(BAG3):c.1318G>T (p.Asp440Tyr)
NM_004281.4(BAG3):c.1322A>G (p.Asn441Ser)
NM_004281.4(BAG3):c.1323C>G (p.Asn441Lys) rs1325704409
NM_004281.4(BAG3):c.1334A>G (p.Lys445Arg)
NM_004281.4(BAG3):c.133C>A (p.Arg45Ser) rs747820097
NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)
NM_004281.4(BAG3):c.1355T>C (p.Leu452Pro)
NM_004281.4(BAG3):c.1361T>C (p.Ile454Thr)
NM_004281.4(BAG3):c.1362C>G (p.Ile454Met) rs372417286
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
NM_004281.4(BAG3):c.1368G>C (p.Glu456Asp)
NM_004281.4(BAG3):c.1369T>C (p.Tyr457His) rs1470778691
NM_004281.4(BAG3):c.136A>T (p.Thr46Ser) rs771633629
NM_004281.4(BAG3):c.1379A>G (p.Lys460Arg)
NM_004281.4(BAG3):c.137C>T (p.Thr46Ile)
NM_004281.4(BAG3):c.1388T>A (p.Leu463Gln)
NM_004281.4(BAG3):c.1394T>C (p.Leu465Pro) rs1564776841
NM_004281.4(BAG3):c.1396G>A (p.Asp466Asn) rs1564776847
NM_004281.4(BAG3):c.1402G>A (p.Val468Met)
NM_004281.4(BAG3):c.1408C>A (p.Pro470Thr)
NM_004281.4(BAG3):c.1409C>T (p.Pro470Leu) rs779539475
NM_004281.4(BAG3):c.1411G>C (p.Glu471Gln)
NM_004281.4(BAG3):c.1414G>A (p.Gly472Arg) rs1847246944
NM_004281.4(BAG3):c.1420G>A (p.Ala474Thr) rs2134069318
NM_004281.4(BAG3):c.1423G>T (p.Asp475Tyr)
NM_004281.4(BAG3):c.1426G>A (p.Val476Met)
NM_004281.4(BAG3):c.142A>C (p.Thr48Pro) rs794728980
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.1432C>T (p.Gln478Ter)
NM_004281.4(BAG3):c.143C>A (p.Thr48Lys) rs1229267488
NM_004281.4(BAG3):c.143C>T (p.Thr48Met)
NM_004281.4(BAG3):c.1442G>C (p.Arg481Thr)
NM_004281.4(BAG3):c.1445dup (p.Asp482fs)
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
NM_004281.4(BAG3):c.1451T>A (p.Val484Asp) rs2134069365
NM_004281.4(BAG3):c.1453A>G (p.Arg485Gly) rs2134069371
NM_004281.4(BAG3):c.1471T>G (p.Leu491Val)
NM_004281.4(BAG3):c.1480C>T (p.Leu494Phe)
NM_004281.4(BAG3):c.1481T>C (p.Leu494Pro)
NM_004281.4(BAG3):c.1489A>C (p.Lys497Gln)
NM_004281.4(BAG3):c.1491del (p.Ala498fs)
NM_004281.4(BAG3):c.1492G>T (p.Ala498Ser)
NM_004281.4(BAG3):c.1493C>T (p.Ala498Val)
NM_004281.4(BAG3):c.1495A>G (p.Ile499Val)
NM_004281.4(BAG3):c.1496T>C (p.Ile499Thr) rs1405717595
NM_004281.4(BAG3):c.1496_1506del (p.Ile499fs)
NM_004281.4(BAG3):c.1498G>T (p.Asp500Tyr)
NM_004281.4(BAG3):c.149A>G (p.Asn50Ser)
NM_004281.4(BAG3):c.1502T>A (p.Val501Asp)
NM_004281.4(BAG3):c.1503C>T (p.Val501=) rs147277075
NM_004281.4(BAG3):c.1504C>G (p.Pro502Ala) rs1564776954
NM_004281.4(BAG3):c.1504C>T (p.Pro502Ser)
NM_004281.4(BAG3):c.1507G>A (p.Gly503Ser)
NM_004281.4(BAG3):c.1511_1521del (p.Gln504fs)
NM_004281.4(BAG3):c.1516C>T (p.Gln506Ter)
NM_004281.4(BAG3):c.1519del (p.Val507fs) rs2134069410
NM_004281.4(BAG3):c.151G>A (p.Asp51Asn)
NM_004281.4(BAG3):c.1531C>A (p.Gln511Lys)
NM_004281.4(BAG3):c.1531C>T (p.Gln511Ter) rs781630937
NM_004281.4(BAG3):c.1537A>G (p.Ser513Gly)
NM_004281.4(BAG3):c.1538G>C (p.Ser513Thr)
NM_004281.4(BAG3):c.1541A>G (p.Asn514Ser) rs1564776999
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
NM_004281.4(BAG3):c.1549G>T (p.Ala517Ser)
NM_004281.4(BAG3):c.1552G>C (p.Asp518His)
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu) rs139125612
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg) rs1846845477
NM_004281.4(BAG3):c.1565A>G (p.Gln522Arg)
NM_004281.4(BAG3):c.1567G>A (p.Ala523Thr)
NM_004281.4(BAG3):c.1568C>T (p.Ala523Val)
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe) rs764925485
NM_004281.4(BAG3):c.1573A>C (p.Met525Leu)
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr) rs2134069468
NM_004281.4(BAG3):c.1574T>G (p.Met525Arg)
NM_004281.4(BAG3):c.1585G>T (p.Ala529Ser)
NM_004281.4(BAG3):c.1586C>T (p.Ala529Val) rs369690617
NM_004281.4(BAG3):c.1591G>T (p.Ala531Ser)
NM_004281.4(BAG3):c.1598A>C (p.Asp533Ala) rs2134069483
NM_004281.4(BAG3):c.1599C>A (p.Asp533Glu) rs749576988
NM_004281.4(BAG3):c.1599C>G (p.Asp533Glu)
NM_004281.4(BAG3):c.1601A>G (p.Lys534Arg) rs2134069486
NM_004281.4(BAG3):c.1601A>T (p.Lys534Met) rs2134069486
NM_004281.4(BAG3):c.1604G>C (p.Gly535Ala)
NM_004281.4(BAG3):c.160G>C (p.Val54Leu) rs1846845663
NM_004281.4(BAG3):c.1626del (p.Glu543fs)
NM_004281.4(BAG3):c.1627G>C (p.Glu543Gln)
NM_004281.4(BAG3):c.1628A>C (p.Glu543Ala)
NM_004281.4(BAG3):c.1628A>G (p.Glu543Gly)
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn) rs786205466
NM_004281.4(BAG3):c.1630G>C (p.Asp544His) rs786205466
NM_004281.4(BAG3):c.1632_1658dup (p.Asp544_Pro552dup) rs2134069510
NM_004281.4(BAG3):c.1632del (p.His546fs) rs2134069512
NM_004281.4(BAG3):c.1633C>G (p.Pro545Ala)
NM_004281.4(BAG3):c.1639A>G (p.Thr547Ala)
NM_004281.4(BAG3):c.1646C>G (p.Thr549Ser)
NM_004281.4(BAG3):c.1646_1652del (p.Thr549fs)
NM_004281.4(BAG3):c.1649A>G (p.Gln550Arg) rs2134069541
NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs) rs1273311196
NM_004281.4(BAG3):c.1667C>A (p.Ala556Glu) rs886046756
NM_004281.4(BAG3):c.1667C>T (p.Ala556Val) rs886046756
NM_004281.4(BAG3):c.1669G>A (p.Ala557Thr) rs1847253063
NM_004281.4(BAG3):c.1679C>G (p.Ser560Ter)
NM_004281.4(BAG3):c.1682A>C (p.Asn561Thr)
NM_004281.4(BAG3):c.1684C>A (p.Pro562Thr)
NM_004281.4(BAG3):c.1685C>G (p.Pro562Arg)
NM_004281.4(BAG3):c.1687A>C (p.Ser563Arg) rs1240662655
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
NM_004281.4(BAG3):c.1693A>G (p.Met565Val) rs756485989
NM_004281.4(BAG3):c.1693A>T (p.Met565Leu)
NM_004281.4(BAG3):c.1694T>A (p.Met565Lys)
NM_004281.4(BAG3):c.1699_1702dup (p.Thr568fs) rs2134069586
NM_004281.4(BAG3):c.1702A>C (p.Thr568Pro) rs1407009048
NM_004281.4(BAG3):c.1703C>G (p.Thr568Ser) rs1564777190
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
NM_004281.4(BAG3):c.170A>G (p.Glu57Gly)
NM_004281.4(BAG3):c.1717dup (p.Ala573fs) rs2134069610
NM_004281.4(BAG3):c.1724C>G (p.Pro575Arg) rs748233260
NM_004281.4(BAG3):c.173G>T (p.Gly58Val) rs138785335
NM_004281.4(BAG3):c.176C>G (p.Pro59Arg)
NM_004281.4(BAG3):c.180+5G>A
NM_004281.4(BAG3):c.180+5G>C rs1435201335
NM_004281.4(BAG3):c.185C>T (p.Thr62Ile) rs1847119419
NM_004281.4(BAG3):c.18C>G (p.His6Gln)
NM_004281.4(BAG3):c.199A>T (p.Asn67Tyr)
NM_004281.4(BAG3):c.19T>C (p.Ser7Pro)
NM_004281.4(BAG3):c.1A>C (p.Met1Leu)
NM_004281.4(BAG3):c.200A>T (p.Asn67Ile)
NM_004281.4(BAG3):c.209C>T (p.Ser70Phe) rs1847119887
NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)
NM_004281.4(BAG3):c.218G>A (p.Gly73Asp)
NM_004281.4(BAG3):c.218G>C (p.Gly73Ala)
NM_004281.4(BAG3):c.224G>A (p.Arg75Lys)
NM_004281.4(BAG3):c.224G>T (p.Arg75Met)
NM_004281.4(BAG3):c.22C>T (p.Pro8Ser) rs2134050454
NM_004281.4(BAG3):c.233C>T (p.Pro78Leu) rs1277311006
NM_004281.4(BAG3):c.239G>T (p.Arg80Met) rs1847120690
NM_004281.4(BAG3):c.242A>G (p.Glu81Gly)
NM_004281.4(BAG3):c.250C>G (p.Pro84Ala)
NM_004281.4(BAG3):c.251C>G (p.Pro84Arg)
NM_004281.4(BAG3):c.259C>T (p.Pro87Ser)
NM_004281.4(BAG3):c.262C>G (p.Gln88Glu)
NM_004281.4(BAG3):c.266T>A (p.Leu89His) rs1236900746
NM_004281.4(BAG3):c.269G>A (p.Arg90Gln)
NM_004281.4(BAG3):c.271C>T (p.Pro91Ser)
NM_004281.4(BAG3):c.272C>T (p.Pro91Leu) rs1847121929
NM_004281.4(BAG3):c.277T>C (p.Tyr93His) rs960439911
NM_004281.4(BAG3):c.277T>G (p.Tyr93Asp)
NM_004281.4(BAG3):c.27G>C (p.Met9Ile)
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
NM_004281.4(BAG3):c.283C>T (p.Pro95Ser)
NM_004281.4(BAG3):c.284C>A (p.Pro95His)
NM_004281.4(BAG3):c.286A>C (p.Ile96Leu) rs1299147536
NM_004281.4(BAG3):c.286A>G (p.Ile96Val)
NM_004281.4(BAG3):c.289C>A (p.Pro97Thr)
NM_004281.4(BAG3):c.289C>G (p.Pro97Ala)
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser) rs747274078
NM_004281.4(BAG3):c.28A>G (p.Met10Val) rs779929078
NM_004281.4(BAG3):c.2T>G (p.Met1Arg) rs1846841605
NM_004281.4(BAG3):c.303A>T (p.Glu101Asp)
NM_004281.4(BAG3):c.30G>A (p.Met10Ile) rs1275338906
NM_004281.4(BAG3):c.30G>T (p.Met10Ile) rs1275338906
NM_004281.4(BAG3):c.310G>C (p.Glu104Gln)
NM_004281.4(BAG3):c.317G>A (p.Arg106Gln) rs1200121142
NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)
NM_004281.4(BAG3):c.322G>C (p.Val108Leu) rs730880053
NM_004281.4(BAG3):c.322G>T (p.Val108Leu) rs730880053
NM_004281.4(BAG3):c.329C>G (p.Pro110Arg)
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu) rs749587347
NM_004281.4(BAG3):c.32A>T (p.Gln11Leu) rs2134050474
NM_004281.4(BAG3):c.332T>C (p.Phe111Ser) rs1847124056
NM_004281.4(BAG3):c.335A>G (p.His112Arg)
NM_004281.4(BAG3):c.340T>C (p.Tyr114His) rs1589628873
NM_004281.4(BAG3):c.355A>G (p.Met119Val) rs1334163509
NM_004281.4(BAG3):c.359A>G (p.Gln120Arg)
NM_004281.4(BAG3):c.359A>T (p.Gln120Leu) rs1847125036
NM_004281.4(BAG3):c.375G>T (p.Glu125Asp) rs2134063438
NM_004281.4(BAG3):c.377C>A (p.Ala126Glu)
NM_004281.4(BAG3):c.377C>T (p.Ala126Val) rs1847125430
NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)
NM_004281.4(BAG3):c.38C>T (p.Ala13Val)
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala) rs140672627
NM_004281.4(BAG3):c.392C>T (p.Pro131Leu) rs778224688
NM_004281.4(BAG3):c.410C>G (p.Pro137Arg) rs781456794
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe) rs2134050488
NM_004281.4(BAG3):c.421A>G (p.Met141Val)
NM_004281.4(BAG3):c.427G>A (p.Glu143Lys)
NM_004281.4(BAG3):c.430A>G (p.Thr144Ala)
NM_004281.4(BAG3):c.431_445dup (p.Thr144_Asp148dup) rs2134063514
NM_004281.4(BAG3):c.445A>G (p.Lys149Glu) rs2134063528
NM_004281.4(BAG3):c.449A>C (p.Gln150Pro)
NM_004281.4(BAG3):c.449A>G (p.Gln150Arg)
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
NM_004281.4(BAG3):c.455G>A (p.Gly152Glu)
NM_004281.4(BAG3):c.458A>G (p.Gln153Arg)
NM_004281.4(BAG3):c.461T>C (p.Val154Ala) rs1405459015
NM_004281.4(BAG3):c.462_464dup (p.Ala160dup) rs1339191406
NM_004281.4(BAG3):c.464C>T (p.Ala155Val)
NM_004281.4(BAG3):c.465_467dup (p.Ala160_Gln161insAla)
NM_004281.4(BAG3):c.466G>A (p.Ala156Thr)
NM_004281.4(BAG3):c.467C>A (p.Ala156Glu) rs572038196
NM_004281.4(BAG3):c.467C>T (p.Ala156Val) rs572038196
NM_004281.4(BAG3):c.468GGC[2] (p.Ala160del)
NM_004281.4(BAG3):c.477_479dup (p.Ala160_Gln161insAla)
NM_004281.4(BAG3):c.478G>A (p.Ala160Thr)
NM_004281.4(BAG3):c.479C>T (p.Ala160Val)
NM_004281.4(BAG3):c.484C>A (p.Pro162Thr) rs2134063622
NM_004281.4(BAG3):c.484C>T (p.Pro162Ser) rs2134063622
NM_004281.4(BAG3):c.490G>T (p.Ala164Ser)
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg) rs543720798
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg) rs727502895
NM_004281.4(BAG3):c.49G>T (p.Gly17Cys)
NM_004281.4(BAG3):c.502C>T (p.Pro168Ser) rs1554877071
NM_004281.4(BAG3):c.507+5G>A
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp) rs1060502812
NM_004281.4(BAG3):c.508-3C>G rs1400338528
NM_004281.4(BAG3):c.508-4_519dup rs1847159825
NM_004281.4(BAG3):c.512C>A (p.Ser171Tyr) rs794728978
NM_004281.4(BAG3):c.520C>G (p.Pro174Ala)
NM_004281.4(BAG3):c.520C>T (p.Pro174Ser) rs1472073020
NM_004281.4(BAG3):c.529T>C (p.Ser177Pro)
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
NM_004281.4(BAG3):c.534C>G (p.Asp178Glu) rs1847160690
NM_004281.4(BAG3):c.535T>A (p.Cys179Ser)
NM_004281.4(BAG3):c.536G>A (p.Cys179Tyr)
NM_004281.4(BAG3):c.538T>C (p.Ser180Pro)
NM_004281.4(BAG3):c.538T>G (p.Ser180Ala)
NM_004281.4(BAG3):c.541_542delinsAA (p.Ser181Asn)
NM_004281.4(BAG3):c.544T>C (p.Ser182Pro)
NM_004281.4(BAG3):c.545C>T (p.Ser182Leu) rs1428247151
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro) rs772491154
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del) rs763170019
NM_004281.4(BAG3):c.550T>A (p.Ser184Thr)
NM_004281.4(BAG3):c.550T>C (p.Ser184Pro)
NM_004281.4(BAG3):c.550T>G (p.Ser184Ala)
NM_004281.4(BAG3):c.551C>T (p.Ser184Phe) rs1450366653
NM_004281.4(BAG3):c.555G>A (p.Ser185=) rs1247645930
NM_004281.4(BAG3):c.556G>C (p.Ala186Pro) rs2134064990
NM_004281.4(BAG3):c.55C>A (p.Arg19Ser) rs727502896
NM_004281.4(BAG3):c.565_588del (p.Pro189_Leu196del)
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys) rs201487919
NM_004281.4(BAG3):c.577A>G (p.Arg193Gly)
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
NM_004281.4(BAG3):c.582C>G (p.Ser194Arg) rs927441881
NM_004281.4(BAG3):c.583A>G (p.Ser195Gly)
NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)
NM_004281.4(BAG3):c.58G>A (p.Asp20Asn) rs1846842832
NM_004281.4(BAG3):c.590G>A (p.Gly197Asp)
NM_004281.4(BAG3):c.592A>T (p.Ser198Cys)
NM_004281.4(BAG3):c.595C>T (p.His199Tyr)
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn) rs1396002893
NM_004281.4(BAG3):c.600G>C (p.Gln200His) rs768201611
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln) rs1057524225
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro) rs1057524225
NM_004281.4(BAG3):c.610G>A (p.Gly204Arg) rs1187185992
NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)
NM_004281.4(BAG3):c.622A>C (p.Ile208Leu) rs1008797667
NM_004281.4(BAG3):c.622A>G (p.Ile208Val)
NM_004281.4(BAG3):c.623T>C (p.Ile208Thr) rs1847163339
NM_004281.4(BAG3):c.625C>G (p.Pro209Ala) rs1589630141
NM_004281.4(BAG3):c.628G>T (p.Val210Leu) rs2134065126
NM_004281.4(BAG3):c.62C>G (p.Pro21Arg) rs1589619881
NM_004281.4(BAG3):c.631A>G (p.Ile211Val)
NM_004281.4(BAG3):c.631A>T (p.Ile211Leu)
NM_004281.4(BAG3):c.634C>A (p.His212Asn) rs752772180
NM_004281.4(BAG3):c.637G>A (p.Glu213Lys) rs1311591078
NM_004281.4(BAG3):c.645C>A (p.Asn215Lys) rs138078305
NM_004281.4(BAG3):c.645C>G (p.Asn215Lys)
NM_004281.4(BAG3):c.655C>A (p.Pro219Thr)
NM_004281.4(BAG3):c.655C>T (p.Pro219Ser) rs1847164115
NM_004281.4(BAG3):c.658G>A (p.Ala220Thr) rs1847164154
NM_004281.4(BAG3):c.665A>G (p.Gln222Arg)
NM_004281.4(BAG3):c.666G>T (p.Gln222His)
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
NM_004281.4(BAG3):c.667C>G (p.Pro223Ala)
NM_004281.4(BAG3):c.668C>T (p.Pro223Leu) rs754615028
NM_004281.4(BAG3):c.673T>C (p.Phe225Leu) rs1847164443
NM_004281.4(BAG3):c.677A>G (p.His226Arg) rs1554877252
NM_004281.4(BAG3):c.680A>C (p.Gln227Pro)
NM_004281.4(BAG3):c.68C>T (p.Pro23Leu) rs1846843077
NM_004281.4(BAG3):c.692C>G (p.Thr231Arg)
NM_004281.4(BAG3):c.694C>G (p.His232Asp) rs2134065202
NM_004281.4(BAG3):c.695A>C (p.His232Pro) rs746241240
NM_004281.4(BAG3):c.700C>G (p.Pro234Ala)
NM_004281.4(BAG3):c.70C>T (p.Pro24Ser) rs2134050540
NM_004281.4(BAG3):c.711G>C (p.Gln237His) rs369377620
NM_004281.4(BAG3):c.712G>A (p.Gly238Arg)
NM_004281.4(BAG3):c.714G>T (p.Gly238=)
NM_004281.4(BAG3):c.716A>T (p.Glu239Val)
NM_004281.4(BAG3):c.717G>C (p.Glu239Asp)
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
NM_004281.4(BAG3):c.729C>G (p.His243Gln)
NM_004281.4(BAG3):c.730C>G (p.Gln244Glu)
NM_004281.4(BAG3):c.737T>C (p.Val246Ala) rs766444344
NM_004281.4(BAG3):c.742C>T (p.His248Tyr)
NM_004281.4(BAG3):c.746A>G (p.Lys249Arg)
NM_004281.4(BAG3):c.750C>G (p.Ile250Met)
NM_004281.4(BAG3):c.754G>C (p.Gly252Arg)
NM_004281.4(BAG3):c.761A>G (p.Asp254Gly) rs2134065274
NM_004281.4(BAG3):c.76T>G (p.Trp26Gly) rs1846843335
NM_004281.4(BAG3):c.773G>A (p.Arg258Gln) rs746551805
NM_004281.4(BAG3):c.776C>T (p.Pro259Leu) rs757710876
NM_004281.4(BAG3):c.781_795del (p.Arg261_Pro265del)
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln) rs746454994
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro) rs746454994
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr) rs876661343
NM_004281.4(BAG3):c.788C>T (p.Ala263Val) rs1057523599
NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)
NM_004281.4(BAG3):c.7G>T (p.Ala3Ser) rs956429406
NM_004281.4(BAG3):c.801G>T (p.Arg267Ser) rs2134065343
NM_004281.4(BAG3):c.802T>C (p.Ser268Pro) rs761965592
NM_004281.4(BAG3):c.806C>T (p.Ser269Phe)
NM_004281.4(BAG3):c.815G>A (p.Gly272Asp)
NM_004281.4(BAG3):c.815G>T (p.Gly272Val) rs1589630345
NM_004281.4(BAG3):c.818C>T (p.Ala273Val) rs1847166946
NM_004281.4(BAG3):c.830A>T (p.Glu277Val) rs762471704
NM_004281.4(BAG3):c.833G>A (p.Gly278Asp)
NM_004281.4(BAG3):c.833G>T (p.Gly278Val)
NM_004281.4(BAG3):c.84C>G (p.Ile28Met)
NM_004281.4(BAG3):c.851G>T (p.Ser284Ile)
NM_004281.4(BAG3):c.853A>G (p.Thr285Ala)
NM_004281.4(BAG3):c.863A>T (p.His288Leu)
NM_004281.4(BAG3):c.865T>G (p.Ser289Ala) rs1160709384
NM_004281.4(BAG3):c.868C>G (p.Pro290Ala)
NM_004281.4(BAG3):c.871T>A (p.Ser291Thr)
NM_004281.4(BAG3):c.874C>T (p.Pro292Ser)
NM_004281.4(BAG3):c.875C>G (p.Pro292Arg) rs748451757
NM_004281.4(BAG3):c.875C>T (p.Pro292Leu)
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys) rs144585878
NM_004281.4(BAG3):c.884T>G (p.Val295Gly)
NM_004281.4(BAG3):c.886C>T (p.His296Tyr) rs1268848002
NM_004281.4(BAG3):c.888C>A (p.His296Gln) rs139399890
NM_004281.4(BAG3):c.889A>G (p.Thr297Ala) rs794728979
NM_004281.4(BAG3):c.890C>T (p.Thr297Ile) rs2134065455
NM_004281.4(BAG3):c.895G>T (p.Val299Phe)
NM_004281.4(BAG3):c.907C>G (p.Gln303Glu)
NM_004281.4(BAG3):c.908A>G (p.Gln303Arg)
NM_004281.4(BAG3):c.909+4C>A rs376351857
NM_004281.4(BAG3):c.909+4C>G rs376351857
NM_004281.4(BAG3):c.909+5G>A
NM_004281.4(BAG3):c.910-21_910-20delinsCG
NM_004281.4(BAG3):c.916A>G (p.Met306Val)
NM_004281.4(BAG3):c.919A>C (p.Thr307Pro)
NM_004281.4(BAG3):c.919A>T (p.Thr307Ser)
NM_004281.4(BAG3):c.91G>C (p.Asp31His)
NM_004281.4(BAG3):c.948G>T (p.Gln316His)
NM_004281.4(BAG3):c.949C>T (p.Pro317Ser) rs2134068679
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
NM_004281.4(BAG3):c.964G>A (p.Glu322Lys)
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala) rs2134068715
NM_004281.4(BAG3):c.977G>T (p.Gly326Val)
NM_004281.4(BAG3):c.979C>A (p.Pro327Thr)
NM_004281.4(BAG3):c.980C>G (p.Pro327Arg) rs1847236737
NM_004281.4(BAG3):c.983T>A (p.Val328Asp)
NM_004281.4(BAG3):c.989C>T (p.Pro330Leu) rs1847237047
NM_004281.4(BAG3):c.994C>T (p.Leu332Phe)
NM_004281.4(BAG3):c.99G>C (p.Gln33His) rs2134050569
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
NM_004369.4(COL6A3):c.1012G>A (p.Gly338Arg)
NM_004369.4(COL6A3):c.1016G>C (p.Gly339Ala)
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn) rs2106378691
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
NM_004369.4(COL6A3):c.1036G>A (p.Val346Ile)
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
NM_004369.4(COL6A3):c.103G>T (p.Gly35Cys)
NM_004369.4(COL6A3):c.1051G>C (p.Val351Leu)
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu) rs2106378611
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile) rs2106378544
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu) rs189772397
NM_004369.4(COL6A3):c.1135C>G (p.Leu379Val)
NM_004369.4(COL6A3):c.1135C>T (p.Leu379Phe)
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly) rs2106388893
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
NM_004369.4(COL6A3):c.1183G>A (p.Asp395Asn)
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn) rs372071064
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly) rs1051157564
NM_004369.4(COL6A3):c.1189A>G (p.Asn397Asp)
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del) rs886042334
NM_004369.4(COL6A3):c.1190A>G (p.Asn397Ser)
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe) rs2078180823
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu) rs746277006
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val) rs1559280207
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser) rs2078177097
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe) rs2078177026
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
NM_004369.4(COL6A3):c.128T>C (p.Leu43Pro)
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile) rs2106378142
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe) rs2078176426
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr) rs2106370456
NM_004369.4(COL6A3):c.1317T>G (p.Ile439Met)
NM_004369.4(COL6A3):c.1336A>G (p.Ile446Val)
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp) rs777078456
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val) rs2106370357
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
NM_004369.4(COL6A3):c.1422G>T (p.Arg474Ser) rs2106370324
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly) rs2078001580
NM_004369.4(COL6A3):c.1441C>T (p.Leu481Phe)
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val) rs2106370266
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His) rs2077999753
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
NM_004369.4(COL6A3):c.1513A>G (p.Lys505Glu) rs886044230
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr) rs2077998366
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser) rs775165275
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val) rs765665120
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
NM_004369.4(COL6A3):c.1730T>C (p.Ile577Thr)
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr) rs1574725167
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu) rs1553562483
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile) rs886043319
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu) rs2106369723
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
NM_004369.4(COL6A3):c.1852C>T (p.Pro618Ser)
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys) rs886043105
NM_004369.4(COL6A3):c.1898-10T>A
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr) rs769257731
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn) rs1181696188
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala) rs768274647
NM_004369.4(COL6A3):c.1921A>G (p.Ile641Val)
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
NM_004369.4(COL6A3):c.1992C>T (p.Asn664=)
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser) rs746265516
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
NM_004369.4(COL6A3):c.2011A>G (p.Ile671Val)
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu) rs35227432
NM_004369.4(COL6A3):c.2035G>T (p.Gly679Cys) rs201031137
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp) rs1325552568
NM_004369.4(COL6A3):c.2042T>C (p.Val681Ala)
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly) rs753741086
NM_004369.4(COL6A3):c.2051G>A (p.Ser684Asn)
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu) rs2106367262
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly) rs2106367237
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys) rs2106367135
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val) rs2106367128
NM_004369.4(COL6A3):c.2159G>T (p.Gly720Val)
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly) rs138570455
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys) rs370719148
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser) rs1410013839
NM_004369.4(COL6A3):c.2218C>G (p.Arg740Gly)
NM_004369.4(COL6A3):c.2218C>T (p.Arg740Cys) rs147182340
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
NM_004369.4(COL6A3):c.2291A>T (p.Asn764Ile)
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) rs200722892
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln) rs776048975
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp) rs1574719707
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val) rs777869450
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro) rs939675343
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser) rs1574719546
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala) rs2106366553
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
NM_004369.4(COL6A3):c.2497+3A>T
NM_004369.4(COL6A3):c.2497+4_2497+9del
NM_004369.4(COL6A3):c.2498-36_2507dup
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg) rs767437328
NM_004369.4(COL6A3):c.2527G>C (p.Asp843His)
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu) rs1574716769
NM_004369.4(COL6A3):c.2566C>T (p.Arg856Cys)
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly) rs2077873907
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val) rs570233756
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys) rs2106364778
NM_004369.4(COL6A3):c.2581A>G (p.Lys861Glu)
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys) rs780855121
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val) rs2077868769
NM_004369.4(COL6A3):c.269A>T (p.Glu90Val) rs2078397283
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met) rs890279367
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys) rs2077868316
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys) rs189356869
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp) rs2106364518
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
NM_004369.4(COL6A3):c.2794G>T (p.Ala932Ser)
NM_004369.4(COL6A3):c.2803C>T (p.Arg935Trp)
NM_004369.4(COL6A3):c.284C>A (p.Thr95Lys)
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys) rs886043736
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala) rs1226873582
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser) rs768292803
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala) rs2077857997
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met) rs145203676
NM_004369.4(COL6A3):c.2966C>T (p.Ser989Phe)
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr) rs2077856364
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn) rs2106364042
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val) rs1194314017
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln) rs114284669
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu) rs2077853056
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser) rs2077852366
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys) rs2106361725
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu) rs532449385
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys) rs1553560705
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala) rs1238550268
NM_004369.4(COL6A3):c.3199G>A (p.Val1067Met) rs148175795
NM_004369.4(COL6A3):c.3240C>G (p.Phe1080Leu)
NM_004369.4(COL6A3):c.3256A>G (p.Met1086Val) rs1559250887
NM_004369.4(COL6A3):c.3262A>G (p.Lys1088Glu)
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser) rs369460632
NM_004369.4(COL6A3):c.3281C>T (p.Ala1094Val)
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg) rs2106361380
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg) rs752924311
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met) rs1574709919
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg) rs2106361269
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser) rs2077786156
NM_004369.4(COL6A3):c.3392G>T (p.Gly1131Val)
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val) rs2077785980
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala) rs2106388440
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr) rs2106361118
NM_004369.4(COL6A3):c.3457G>A (p.Val1153Met)
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg) rs146313030
NM_004369.4(COL6A3):c.3478G>A (p.Ala1160Thr)
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys) rs2106388428
NM_004369.4(COL6A3):c.3497G>C (p.Gly1166Ala)
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe) rs886042996
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
NM_004369.4(COL6A3):c.3502G>A (p.Gly1168Arg)
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile) rs2077780771
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys) rs2077777129
NM_004369.4(COL6A3):c.3645G>T (p.Arg1215Ser)
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser) rs1553560314
NM_004369.4(COL6A3):c.3679+4C>G
NM_004369.4(COL6A3):c.3679+5G>A
NM_004369.4(COL6A3):c.3680-14C>G
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly) rs1190794379
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro) rs1553559646
NM_004369.4(COL6A3):c.3737C>T (p.Pro1246Leu)
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu) rs368077444
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
NM_004369.4(COL6A3):c.3748T>A (p.Tyr1250Asn)
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe) rs886044373
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly) rs773456951
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
NM_004369.4(COL6A3):c.3806C>T (p.Thr1269Ile) rs1064796775
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu) rs2077710026
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn) rs752309834
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile) rs2077709263
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
NM_004369.4(COL6A3):c.3876G>C (p.Lys1292Asn)
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met) rs899539198
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
NM_004369.4(COL6A3):c.3941A>G (p.Asn1314Ser)
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
NM_004369.4(COL6A3):c.3970T>G (p.Phe1324Val)
NM_004369.4(COL6A3):c.3986G>A (p.Gly1329Glu)
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile) rs779967310
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser) rs750341446
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys) rs750341446
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg)
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn) rs781033908
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
NM_004369.4(COL6A3):c.4070T>G (p.Val1357Gly) rs1480888719
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile) rs2077700902
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His) rs2106357056
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr) rs1460462771
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr) rs372234605
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp) rs780669785
NM_004369.4(COL6A3):c.4171G>C (p.Val1391Leu)
NM_004369.4(COL6A3):c.4175G>A (p.Ser1392Asn)
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser) rs764522621
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu) rs1367588379
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del) rs886043395
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
NM_004369.4(COL6A3):c.4282C>T (p.Pro1428Ser)
NM_004369.4(COL6A3):c.4285+3G>A
NM_004369.4(COL6A3):c.4286-7T>G
NM_004369.4(COL6A3):c.4289T>A (p.Val1430Asp)
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg) rs2077626425
NM_004369.4(COL6A3):c.4298A>C (p.Asp1433Ala)
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu) rs775286217
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu) rs144314743
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr) rs2106353352
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn) rs772700553
NM_004369.4(COL6A3):c.433G>T (p.Val145Phe)
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val) rs2077624929
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln) rs2077624807
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys) rs2077624444
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser) rs771199614
NM_004369.4(COL6A3):c.4408C>T (p.Pro1470Ser)
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His) rs2077623565
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys) rs2106353213
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg) rs2106353172
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser) rs2077622262
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile) rs2077622262
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly)
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu) rs115551245
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp) rs2106353091
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu) rs754840728
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys) rs766158387
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met) rs766158387
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg) rs1293450770
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
NM_004369.4(COL6A3):c.4529G>T (p.Gly1510Val)
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe) rs1370846981
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr) rs2077618678
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
NM_004369.4(COL6A3):c.4570G>T (p.Ala1524Ser)
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr) rs1559279425
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
NM_004369.4(COL6A3):c.4660G>A (p.Asp1554Asn)
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu) rs375207869
NM_004369.4(COL6A3):c.4684G>A (p.Val1562Met)
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu) rs1553557605
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met) rs201178064
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly) rs200825417
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn) rs1473351823
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg) rs1340303980
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp) rs1559239453
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala) rs745755603
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His) rs904372024
NM_004369.4(COL6A3):c.4772G>A (p.Arg1591Lys)
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu) rs886042267
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala) rs1559239279
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val) rs1064796167
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser) rs2106352582
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser) rs200433282
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val) rs1168631702
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met) rs398124121
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu) rs398124121
NM_004369.4(COL6A3):c.4900+3A>G rs894493736
NM_004369.4(COL6A3):c.4916A>G (p.Asp1639Gly)
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu) rs1553556773
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu) rs1559237565
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val) rs941055048
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu) rs1574991145
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr) rs1574991130
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys) rs1194443961
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys) rs1553556695
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu) rs886043879
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe) rs1028347478
NM_004369.4(COL6A3):c.5023T>C (p.Ser1675Pro)
NM_004369.4(COL6A3):c.5028C>G (p.Ile1676Met)
NM_004369.4(COL6A3):c.5060C>A (p.Pro1687His)
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu) rs370475865
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
NM_004369.4(COL6A3):c.5099G>A (p.Arg1700Lys)
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
NM_004369.4(COL6A3):c.5149G>A (p.Ala1717Thr)
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg) rs2077571169
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp) rs1553556546
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
NM_004369.4(COL6A3):c.5212C>T (p.Arg1738Cys)
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met) rs2077569879
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln) rs886042855
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
NM_004369.4(COL6A3):c.5243T>G (p.Phe1748Cys)
NM_004369.4(COL6A3):c.5266G>T (p.Val1756Leu)
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
NM_004369.4(COL6A3):c.5270A>C (p.Glu1757Ala)
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn) rs536364005
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly) rs150200531
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
NM_004369.4(COL6A3):c.529G>A (p.Val177Ile)
NM_004369.4(COL6A3):c.5303A>G (p.Gln1768Arg)
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp) rs2106350563
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser) rs755698278
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg) rs763289509
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala) rs771598463
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly) rs2077565368
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile) rs2106350461
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
NM_004369.4(COL6A3):c.5374A>G (p.Asn1792Asp)
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
NM_004369.4(COL6A3):c.5398G>C (p.Gly1800Arg)
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys) rs114357878
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val) rs2077563075
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn) rs1553556280
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln) rs1463075616
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser) rs1440752292
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
NM_004369.4(COL6A3):c.5500+3A>C rs1345603228
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser) rs1559235332
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala) rs747200439
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala) rs1559235183
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn) rs906293407
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr) rs756521643
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser) rs756521643
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser) rs1465215888
NM_004369.4(COL6A3):c.5620A>G (p.Arg1874Gly)
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro) rs1559234936
NM_004369.4(COL6A3):c.5639G>C (p.Gly1880Ala)
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
NM_004369.4(COL6A3):c.5668G>T (p.Val1890Leu)
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe) rs2106349155
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser) rs750367811
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg) rs1351246573
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys) rs1574987599
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
NM_004369.4(COL6A3):c.5786C>A (p.Thr1929Asn)
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile) rs113817270
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser) rs1574987505
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp) rs2078384466
NM_004369.4(COL6A3):c.5815C>G (p.Gln1939Glu)
NM_004369.4(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.4(COL6A3):c.5838+5G>A rs1553555753
NM_004369.4(COL6A3):c.5838+9G>C
NM_004369.4(COL6A3):c.5839-9T>G
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe) rs1454153037
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr) rs2078384209
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr) rs1364239110
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala) rs200110562
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr) rs2077502544
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala) rs773896666
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys) rs886042371
NM_004369.4(COL6A3):c.5909G>T (p.Arg1970Leu)
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
NM_004369.4(COL6A3):c.5924G>T (p.Arg1975Leu) rs375287084
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln) rs1362987398
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly) rs558534346
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr) rs1559231403
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg) rs1326219992
NM_004369.4(COL6A3):c.5990G>A (p.Gly1997Glu)
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val) rs1211265308
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
NM_004369.4(COL6A3):c.605A>C (p.Asn202Thr)
NM_004369.4(COL6A3):c.6063+5dup rs2077478134
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly) rs2106344266
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr) rs758893173
NM_004369.4(COL6A3):c.6092G>A (p.Gly2031Glu)
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe) rs1316305394
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn) rs1574755113
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser) rs767129751
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
NM_004369.4(COL6A3):c.6138_6139delinsGT (p.Ile2046_Gly2047delinsMetCys)
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
NM_004369.4(COL6A3):c.6151C>T (p.Pro2051Ser)
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu) rs1064795558
NM_004369.4(COL6A3):c.6169G>A (p.Glu2057Lys)
NM_004369.4(COL6A3):c.6170A>G (p.Glu2057Gly)
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp) rs2106343480
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.619C>A (p.His207Asn) rs749985039
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr) rs749985039
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp) rs963783516
NM_004369.4(COL6A3):c.6210+4dup
NM_004369.4(COL6A3):c.6210+9_6210+19del
NM_004369.4(COL6A3):c.6211-11T>A
NM_004369.4(COL6A3):c.6211-4A>G rs398124127
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys) rs2106342311
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys) rs1306849935
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu) rs2106342286
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr) rs2106342283
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val) rs794727188
NM_004369.4(COL6A3):c.6241A>T (p.Thr2081Ser)
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
NM_004369.4(COL6A3):c.6272G>C (p.Arg2091Thr)
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln) rs2106342223
NM_004369.4(COL6A3):c.6283-28A>G
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe) rs765213888
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln) rs79375816
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) rs794727206
NM_004369.4(COL6A3):c.6309+10C>G rs2077385627
NM_004369.4(COL6A3):c.6309+3A>T rs1553553327
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
NM_004369.4(COL6A3):c.6354+5G>A
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu) rs1574974640
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
NM_004369.4(COL6A3):c.6408G>A (p.Arg2136=)
NM_004369.4(COL6A3):c.6414T>A (p.Asp2138Glu)
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly) rs530866854
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
NM_004369.4(COL6A3):c.6432G>T (p.Glu2144Asp)
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp) rs2106340479
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg) rs2106340509
NM_004369.4(COL6A3):c.6436G>C (p.Gly2146Arg)
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys) rs1574973805
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn) rs2077367323
NM_004369.4(COL6A3):c.6451G>A (p.Val2151Ile)
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro) rs145561490
NM_004369.4(COL6A3):c.6461G>T (p.Arg2154Leu)
NM_004369.4(COL6A3):c.6469C>A (p.Pro2157Thr)
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
NM_004369.4(COL6A3):c.6487G>A (p.Asp2163Asn)
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu) rs758376967
NM_004369.4(COL6A3):c.6492C>A (p.Ser2164Arg)
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu) rs745761792
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg) rs762287373
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
NM_004369.4(COL6A3):c.6535A>G (p.Met2179Val)
NM_004369.4(COL6A3):c.6535A>T (p.Met2179Leu)
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu) rs2106339211
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
NM_004369.4(COL6A3):c.6591+5G>A rs1574971639
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser) rs761353795
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp) rs1319341064
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr) rs398124129
NM_004369.4(COL6A3):c.6627+3G>A
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val) rs2106334478
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
NM_004369.4(COL6A3):c.6698C>G (p.Ala2233Gly)
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala) rs1574963550
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln) rs753307921
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val) rs1473692842
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
NM_004369.4(COL6A3):c.6769G>T (p.Ala2257Ser)
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr) rs2077198497
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn) rs2077197570
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg) rs761156771
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr) rs1574958818
NM_004369.4(COL6A3):c.6844G>A (p.Gly2282Arg)
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val) rs1186288111
NM_004369.4(COL6A3):c.6871G>T (p.Gly2291Trp) rs727502836
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys) rs759657526
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=) rs886044656
NM_004369.4(COL6A3):c.6883G>A (p.Asp2295Asn)
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg) rs1224613890
NM_004369.4(COL6A3):c.6893G>T (p.Arg2298Ile)
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe) rs1559212695
NM_004369.4(COL6A3):c.6905G>A (p.Gly2302Asp)
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr) rs2106329002
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser) rs370862741
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His) rs1177122610
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser) rs1243164167
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu) rs751617505
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys) rs113961575
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr) rs886044392
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala) rs886044392
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr) rs371637449
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser) rs2077126598
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg) rs2106326911
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly) rs1482724586
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser) rs934983963
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
NM_004369.4(COL6A3):c.709+5T>C
NM_004369.4(COL6A3):c.7092+5G>A
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr) rs1553564820
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
NM_004369.4(COL6A3):c.7101G>C (p.Lys2367Asn)
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
NM_004369.4(COL6A3):c.7161C>T (p.Cys2387=)
NM_004369.4(COL6A3):c.7162+2dup
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly) rs2078202028
NM_004369.4(COL6A3):c.7174+5G>A rs777424537
NM_004369.4(COL6A3):c.7174+5G>T
NM_004369.4(COL6A3):c.7175-3C>T
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu) rs2078201961
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro) rs2077065222
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val) rs2077064946
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu) rs768794876
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp) rs771424958
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met) rs1400293403
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile) rs2106379268
NM_004369.4(COL6A3):c.7343T>C (p.Val2448Ala)
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala) rs2077061420
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys) rs886044364
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp) rs114199044
NM_004369.4(COL6A3):c.7381G>C (p.Ala2461Pro)
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu) rs2077060526
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
NM_004369.4(COL6A3):c.7423A>T (p.Asn2475Tyr)
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro) rs1574948119
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys) rs2106324901
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile) rs2106324896
NM_004369.4(COL6A3):c.7468G>A (p.Ala2490Thr)
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp) rs398124134
NM_004369.4(COL6A3):c.7501C>T (p.Arg2501Cys)
NM_004369.4(COL6A3):c.7502G>T (p.Arg2501Leu)
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met) rs1446344528
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
NM_004369.4(COL6A3):c.7540T>C (p.Phe2514Leu)
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly) rs749651818
NM_004369.4(COL6A3):c.7565C>T (p.Ala2522Val)
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu) rs2077056501
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn) rs201283466
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr) rs2106324714
NM_004369.4(COL6A3):c.7626C>A (p.Phe2542Leu)
NM_004369.4(COL6A3):c.7666C>A (p.Gln2556Lys)
NM_004369.4(COL6A3):c.7668+5G>C
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His) rs1553547891
NM_004369.4(COL6A3):c.7669-3C>T rs763071900
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
NM_004369.4(COL6A3):c.7686G>A (p.Val2562=)
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg) rs780964113
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile) rs1559203170
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln) rs2077000191
NM_004369.4(COL6A3):c.7711G>A (p.Gly2571Arg)
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu) rs1553546746
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg) rs1381568881
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu) rs114806654
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr) rs2106320038
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu) rs1419214464
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn) rs890268146
NM_004369.4(COL6A3):c.7951A>G (p.Met2651Val)
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro) rs1192265506
NM_004369.4(COL6A3):c.7969G>T (p.Ala2657Ser)
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr) rs1559201034
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg) rs761740861
NM_004369.4(COL6A3):c.8056G>T (p.Glu2686Ter)
NM_004369.4(COL6A3):c.8059T>A (p.Phe2687Ile)
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val) rs957705259
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe) rs1031349800
NM_004369.4(COL6A3):c.8128C>A (p.Gln2710Lys)
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn) rs763974888
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr) rs763974888
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp) rs756868781
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
NM_004369.4(COL6A3):c.8240T>C (p.Val2747Ala)
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys) rs144130137
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val) rs770586429
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro) rs2076967534
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met) rs886044644
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe) rs2106319405
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu) rs2106319353
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
NM_004369.4(COL6A3):c.840_842del (p.Val281del)
NM_004369.4(COL6A3):c.8413A>G (p.Asn2805Asp)
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp) rs1553546042
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
NM_004369.4(COL6A3):c.8462G>A (p.Ser2821Asn)
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
NM_004369.4(COL6A3):c.8515T>A (p.Phe2839Ile)
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1]) rs780678900
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3]) rs1167608831
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser) rs1553544899
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu) rs1553544853
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His) rs1559194476
NM_004369.4(COL6A3):c.8757_8771del (p.2915AKPVA[1])
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp) rs1455583519
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser) rs2106314453
NM_004369.4(COL6A3):c.8782G>A (p.Ala2928Thr)
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala) rs1700542767
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr) rs1361910233
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
NM_004369.4(COL6A3):c.87A>T (p.Gln29His) rs775946239
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly) rs1440572476
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu) rs36020669
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg) rs1700539745
NM_004369.4(COL6A3):c.8854G>C (p.Val2952Leu)
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser) rs1700538106
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup) rs35879189
NM_004369.4(COL6A3):c.8869G>A (p.Ala2957Thr)
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val) rs1287394484
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
NM_004369.4(COL6A3):c.8873C>T (p.Ala2958Val)
NM_004369.4(COL6A3):c.8893A>G (p.Thr2965Ala)
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser) rs1256198664
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
NM_004369.4(COL6A3):c.8966-3C>T
NM_004369.4(COL6A3):c.8974T>A (p.Ser2992Thr) rs886042804
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr) rs1559270845
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
NM_004369.4(COL6A3):c.898_900del (p.Ser300del) rs554176183
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser) rs1187707448
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
NM_004369.4(COL6A3):c.9046G>A (p.Gly3016Ser)
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del) rs756150789
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro) rs1700446197
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val) rs1299012840
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu) rs1553544136
NM_004369.4(COL6A3):c.91+4A>G
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
NM_004369.4(COL6A3):c.9229+4_9229+7del
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
NM_004369.4(COL6A3):c.9239A>G (p.Gln3080Arg)
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) rs1700374826
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile) rs1700373011
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln) rs1288932366
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
NM_004369.4(COL6A3):c.9328+3G>A
NM_004369.4(COL6A3):c.9329-14T>A
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val) rs781284019
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
NM_004369.4(COL6A3):c.9374_9379dup (p.Leu3126_Lys3127insIleLeu)
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys) rs1699900051
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val) rs886042448
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val) rs1553541451
NM_004369.4(COL6A3):c.9461C>T (p.Ser3154Leu)
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
NM_004369.4(COL6A3):c.950G>A (p.Gly317Glu)
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro) rs2106297671
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn) rs2078191004
NM_004369.4(COL6A3):c.967G>A (p.Gly323Ser)
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr) rs2078190150
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr) rs2149467566
NM_004370.6(COL12A1):c.1027A>G (p.Met343Val)
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
NM_004370.6(COL12A1):c.1028T>G (p.Met343Arg)
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His) rs1769481285
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
NM_004370.6(COL12A1):c.1052A>C (p.Lys351Thr)
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn) rs1562297952
NM_004370.6(COL12A1):c.1061G>A (p.Trp354Ter)
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met) rs2149467444
NM_004370.6(COL12A1):c.1096G>A (p.Val366Ile)
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile) rs1253680957
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln) rs2149467365
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr) rs779083996
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala) rs1582198440
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
NM_004370.6(COL12A1):c.1168A>G (p.Ser390Gly)
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val) rs1032545730
NM_004370.6(COL12A1):c.1195G>A (p.Glu399Lys)
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter) rs2149467117
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val) rs1582198261
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr) rs1325717704
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
NM_004370.6(COL12A1):c.1230G>T (p.Met410Ile)
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys) rs2149467046
NM_004370.6(COL12A1):c.125A>G (p.His42Arg) rs760445921
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn) rs2149466995
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val) rs2149466974
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu) rs1562297194
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn) rs1769466109
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
NM_004370.6(COL12A1):c.1292G>T (p.Cys431Phe)
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu) rs1769450841
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met) rs1769449076
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
NM_004370.6(COL12A1):c.1339G>T (p.Gly447Cys)
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
NM_004370.6(COL12A1):c.1403A>G (p.Lys468Arg) rs2149466373
NM_004370.6(COL12A1):c.1412A>C (p.Glu471Ala)
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val) rs2149466346
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
NM_004370.6(COL12A1):c.1459G>A (p.Asp487Asn)
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln) rs779234808
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val) rs1769434215
NM_004370.6(COL12A1):c.1507A>G (p.Ile503Val)
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys) rs2149466133
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
NM_004370.6(COL12A1):c.152C>T (p.Pro51Leu)
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg) rs2149466076
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
NM_004370.6(COL12A1):c.1558G>A (p.Gly520Ser)
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr) rs1770137078
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu) rs774728500
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn) rs2149465941
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met) rs1769421436
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp) rs1769421051
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met) rs557804521
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly) rs2149465853
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly) rs1002113974
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu) rs2149465802
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser) rs775466928
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu) rs2149465788
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val) rs1344964508
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
NM_004370.6(COL12A1):c.1724G>A (p.Gly575Asp)
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn) rs2149465694
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr) rs2149465694
NM_004370.6(COL12A1):c.1733A>G (p.Asp578Gly)
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
NM_004370.6(COL12A1):c.1768CCT[1] (p.Pro591del)
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala) rs1770135564
NM_004370.6(COL12A1):c.1771C>G (p.Pro591Ala)
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
NM_004370.6(COL12A1):c.1801G>C (p.Asp601His)
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
NM_004370.6(COL12A1):c.1846A>G (p.Ile616Val)
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg) rs779409298
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly) rs1356178155
NM_004370.6(COL12A1):c.1873G>A (p.Ala625Thr)
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met) rs962496340
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
NM_004370.6(COL12A1):c.1891+1G>T
NM_004370.6(COL12A1):c.1891+4A>C rs148292262
NM_004370.6(COL12A1):c.1891+6T>C
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr) rs952803259
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser) rs952803259
NM_004370.6(COL12A1):c.1892-6_1892-5insG rs752652515
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile) rs200315815
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu) rs200315815
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
NM_004370.6(COL12A1):c.1911T>G (p.Asp637Glu)
NM_004370.6(COL12A1):c.1921del (p.Ser641fs) rs2149462293
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala) rs1769262393
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu) rs2149479257
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala) rs2149462234
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
NM_004370.6(COL12A1):c.1984T>C (p.Tyr662His)
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs) rs1769258754
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val) rs1769258112
NM_004370.6(COL12A1):c.19C>T (p.Pro7Ser)
NM_004370.6(COL12A1):c.1A>T (p.Met1Leu)
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys) rs2149462161
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser) rs1769255982
NM_004370.6(COL12A1):c.2012G>C (p.Gly671Ala) rs1057519171
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn) rs1233438359
NM_004370.6(COL12A1):c.2024T>A (p.Val675Asp)
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala) rs1562290248
NM_004370.6(COL12A1):c.2040_2041delinsCC (p.Ala681Pro)
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr) rs371321756
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
NM_004370.6(COL12A1):c.2053A>C (p.Ser685Arg)
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn) rs2149461916
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val) rs2149461913
NM_004370.6(COL12A1):c.2129G>A (p.Ser710Asn)
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val) rs773755693
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro) rs1562315490
NM_004370.6(COL12A1):c.2164+6A>G rs746467248
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu) rs1341300538
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr) rs1769052023
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala) rs1769051365
NM_004370.6(COL12A1):c.2213G>A (p.Ser738Asn)
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr) rs750973541
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys) rs2149457038
NM_004370.6(COL12A1):c.2229G>A (p.Trp743Ter)
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter) rs1554186583
NM_004370.6(COL12A1):c.223A>G (p.Ser75Gly)
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter) rs1034315777
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val) rs1769044982
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe) rs2149456891
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala) rs2149456824
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
NM_004370.6(COL12A1):c.2320C>T (p.Gln774Ter)
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
NM_004370.6(COL12A1):c.233A>C (p.Glu78Ala)
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp) rs2149456727
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu) rs2149456708
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
NM_004370.6(COL12A1):c.2401G>A (p.Gly801Ser)
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile) rs1769035606
NM_004370.6(COL12A1):c.2420A>T (p.Asn807Ile)
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr) rs772493333
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp) rs1769033719
NM_004370.6(COL12A1):c.2437+6G>A rs1769033413
NM_004370.6(COL12A1):c.2438T>G (p.Val813Gly)
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys) rs371428645
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly) rs1768877676
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
NM_004370.6(COL12A1):c.2482T>C (p.Ser828Pro)
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala) rs1194621615
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val) rs1489423171
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu) rs2149452205
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu) rs2149452194
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu) rs2149452186
NM_004370.6(COL12A1):c.2540C>G (p.Thr847Arg)
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn) rs559028883
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
NM_004370.6(COL12A1):c.2561del (p.Gly854fs) rs1582179372
NM_004370.6(COL12A1):c.2587G>A (p.Gly863Arg)
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val) rs2149452026
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu) rs764066205
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu) rs777386471
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val) rs777386471
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala) rs1278211393
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg) rs2149451801
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp) rs1768851120
NM_004370.6(COL12A1):c.2710+6T>C
NM_004370.6(COL12A1):c.2711-5T>G
NM_004370.6(COL12A1):c.2713C>A (p.Arg905Ser)
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro) rs369193482
NM_004370.6(COL12A1):c.2714G>T (p.Arg905Leu)
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
NM_004370.6(COL12A1):c.2726A>C (p.Gln909Pro)
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
NM_004370.6(COL12A1):c.2737A>G (p.Thr913Ala)
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
NM_004370.6(COL12A1):c.2752G>C (p.Asp918His)
NM_004370.6(COL12A1):c.2755A>G (p.Thr919Ala)
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr) rs1768261723
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
NM_004370.6(COL12A1):c.2767G>A (p.Ala923Thr)
NM_004370.6(COL12A1):c.2789G>A (p.Gly930Glu)
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile) rs1768259480
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
NM_004370.6(COL12A1):c.2806A>G (p.Arg936Gly)
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro) rs2149438769
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
NM_004370.6(COL12A1):c.2835T>A (p.Asp945Glu)
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu) rs1253194188
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu) rs1236232001
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu) rs370815575
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
NM_004370.6(COL12A1):c.2893C>G (p.Leu965Val) rs771868336
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly) rs1768252416
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
NM_004370.6(COL12A1):c.2923G>A (p.Val975Ile)
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del) rs1768250668
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His) rs752812483
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=) rs1768247192
NM_004370.6(COL12A1):c.2983+1G>T
NM_004370.6(COL12A1):c.2983+2T>G
NM_004370.6(COL12A1):c.2983+3A>C
NM_004370.6(COL12A1):c.2983+3del
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe) rs1582147328
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys) rs1767775935
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr) rs1767775644
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu) rs1562335715
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala) rs1767774122
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
NM_004370.6(COL12A1):c.3059C>T (p.Pro1020Leu)
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile) rs1582147115
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala) rs1582147110
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys) rs2149424485
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser) rs575168916
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
NM_004370.6(COL12A1):c.3098A>G (p.His1033Arg)
NM_004370.6(COL12A1):c.3099T>G (p.His1033Gln)
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg) rs2149424441
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile) rs1767764943
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr) rs1767764412
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly) rs2149424377
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu) rs772210650
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter) rs868543538
NM_004370.6(COL12A1):c.3161G>T (p.Arg1054Leu)
NM_004370.6(COL12A1):c.3169C>T (p.Pro1057Ser)
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
NM_004370.6(COL12A1):c.320T>C (p.Ile107Thr)
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys) rs2149424189
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu) rs2149423356
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys) rs1767727217
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
NM_004370.6(COL12A1):c.3281A>G (p.Lys1094Arg)
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe) rs2149423302
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn) rs2149423269
NM_004370.6(COL12A1):c.3308T>C (p.Phe1103Ser)
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln) rs2149423255
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
NM_004370.6(COL12A1):c.3326C>A (p.Pro1109His)
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp) rs1767721141
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala) rs1272550670
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His) rs2149423214
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
NM_004370.6(COL12A1):c.334+4A>T rs1769967046
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met) rs2149423183
NM_004370.6(COL12A1):c.335-1G>C rs779800232
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys) rs1582145759
NM_004370.6(COL12A1):c.3370A>G (p.Thr1124Ala)
NM_004370.6(COL12A1):c.337C>T (p.Gln113Ter)
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
NM_004370.6(COL12A1):c.3394dup (p.Glu1132fs)
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp) rs1420617553
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
NM_004370.6(COL12A1):c.3400G>A (p.Val1134Met)
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
NM_004370.6(COL12A1):c.3444-6T>G
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
NM_004370.6(COL12A1):c.3452C>T (p.Thr1151Ile)
NM_004370.6(COL12A1):c.3454A>G (p.Thr1152Ala)
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile) rs759294983
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala) rs770692332
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
NM_004370.6(COL12A1):c.3509T>C (p.Val1170Ala)
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln) rs1767653671
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
NM_004370.6(COL12A1):c.3536A>G (p.Asp1179Gly)
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
NM_004370.6(COL12A1):c.3551C>A (p.Pro1184Gln)
NM_004370.6(COL12A1):c.3553A>G (p.Ile1185Val)
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro) rs1190415160
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
NM_004370.6(COL12A1):c.3565+1G>A
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
NM_004370.6(COL12A1):c.3597C>A (p.Asp1199Glu)
NM_004370.6(COL12A1):c.3617G>C (p.Gly1206Ala)
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln) rs775382202
NM_004370.6(COL12A1):c.3663C>T (p.Phe1221=)
NM_004370.6(COL12A1):c.3677T>G (p.Val1226Gly)
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val) rs1449618151
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr) rs2149417585
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn) rs1582139804
NM_004370.6(COL12A1):c.3739C>T (p.Pro1247Ser)
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu) rs375043994
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
NM_004370.6(COL12A1):c.3802A>T (p.Asn1268Tyr)
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu) rs1562233846
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
NM_004370.6(COL12A1):c.3835+3_3835+6del
NM_004370.6(COL12A1):c.3853A>G (p.Ile1285Val)
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys) rs1387157172
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu) rs1489541121
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly) rs1231394496
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
NM_004370.6(COL12A1):c.3886A>G (p.Met1296Val)
NM_004370.6(COL12A1):c.3888G>C (p.Met1296Ile)
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr) rs376766442
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr) rs1769938135
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg) rs1260669878
NM_004370.6(COL12A1):c.393A>C (p.Gln131His) rs1769937627
NM_004370.6(COL12A1):c.394+1G>A
NM_004370.6(COL12A1):c.394+3G>A
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
NM_004370.6(COL12A1):c.3976G>A (p.Glu1326Lys)
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val) rs557573017
NM_004370.6(COL12A1):c.4000+4C>A
NM_004370.6(COL12A1):c.4000+4C>T rs375772555
NM_004370.6(COL12A1):c.4001-11C>A
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe) rs1554182853
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val) rs2149415452
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala) rs1335085130
NM_004370.6(COL12A1):c.4042A>T (p.Thr1348Ser)
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn) rs1767469659
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn) rs913180274
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser) rs913180274
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser) rs1562230954
NM_004370.6(COL12A1):c.4088C>T (p.Ser1363Leu)
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met) rs745813975
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly) rs2149415249
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile) rs2149415231
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val) rs2149415217
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser) rs1268978531
NM_004370.6(COL12A1):c.4131C>G (p.Asn1377Lys)
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys) rs1405840866
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn) rs1033092764
NM_004370.6(COL12A1):c.4147+3A>G
NM_004370.6(COL12A1):c.4147+4A>T
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr) rs2149410743
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del) rs1767315080
NM_004370.6(COL12A1):c.4169A>C (p.Asn1390Thr)
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val) rs1582133150
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser) rs1767312990
NM_004370.6(COL12A1):c.4204A>G (p.Arg1402Gly)
NM_004370.6(COL12A1):c.4225T>C (p.Ser1409Pro)
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
NM_004370.6(COL12A1):c.4254A>C (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp) rs758640189
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser) rs779038394
NM_004370.6(COL12A1):c.427T>A (p.Phe143Ile)
NM_004370.6(COL12A1):c.4285G>A (p.Glu1429Lys)
NM_004370.6(COL12A1):c.4287+4A>T rs1767305838
NM_004370.6(COL12A1):c.4288-14A>G
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln) rs779064060
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu) rs779064060
NM_004370.6(COL12A1):c.4310C>T (p.Thr1437Ile)
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn) rs889393418
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu) rs1767273965
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys) rs1582131685
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr) rs1394611159
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys) rs897954123
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
NM_004370.6(COL12A1):c.4410A>T (p.Glu1470Asp)
NM_004370.6(COL12A1):c.4417+4A>G rs2149409130
NM_004370.6(COL12A1):c.4417+4_4417+5del
NM_004370.6(COL12A1):c.4417+5G>A
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile) rs1767188215
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile) rs1246887485
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
NM_004370.6(COL12A1):c.4454T>G (p.Val1485Gly)
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
NM_004370.6(COL12A1):c.4472A>G (p.His1491Arg)
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=) rs199901074
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val) rs1582129070
NM_004370.6(COL12A1):c.4511T>A (p.Ile1504Asn)
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys) rs1767180643
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
NM_004370.6(COL12A1):c.4558G>A (p.Glu1520Lys)
NM_004370.6(COL12A1):c.4560+8A>G
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu) rs556742432
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met) rs1326246352
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly) rs2149475927
NM_004370.6(COL12A1):c.4586A>G (p.Asp1529Gly)
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu) rs1226808307
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys) rs1767128506
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr) rs1767128506
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
NM_004370.6(COL12A1):c.4602C>T (p.Asp1534=) rs1767127938
NM_004370.6(COL12A1):c.4609C>G (p.Pro1537Ala)
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser) rs1028650601
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp) rs367865394
NM_004370.6(COL12A1):c.4622A>G (p.Tyr1541Cys)
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala) rs1562217199
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=) rs1767120492
NM_004370.6(COL12A1):c.4690+5G>A rs1767120188
NM_004370.6(COL12A1):c.4691-8T>A
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser) rs1554181762
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser) rs2149402848
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly) rs1767009455
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly) rs1490798316
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
NM_004370.6(COL12A1):c.4740C>G (p.Ser1580Arg)
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val) rs548978005
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro) rs373006852
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
NM_004370.6(COL12A1):c.4811A>C (p.Glu1604Ala)
NM_004370.6(COL12A1):c.4827+3A>G
NM_004370.6(COL12A1):c.4827+6T>C
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro) rs750511139
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile) rs765702033
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile) rs368180489
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His) rs759038011
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser) rs773883741
NM_004370.6(COL12A1):c.4910T>C (p.Val1637Ala)
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
NM_004370.6(COL12A1):c.4933C>A (p.Pro1645Thr)
NM_004370.6(COL12A1):c.4945C>A (p.Gln1649Lys)
NM_004370.6(COL12A1):c.4954A>T (p.Thr1652Ser)
NM_004370.6(COL12A1):c.4954_4957+2dup
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
NM_004370.6(COL12A1):c.4957+11_4957+12inv
NM_004370.6(COL12A1):c.4958-13T>G
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp) rs1766760179
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
NM_004370.6(COL12A1):c.4972C>G (p.Pro1658Ala)
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp) rs1582115930
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu) rs1766757762
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala) rs2149475862
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser) rs550455854
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
NM_004370.6(COL12A1):c.506C>T (p.Ala169Val)
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
NM_004370.6(COL12A1):c.5074T>C (p.Phe1692Leu)
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr) rs749443694
NM_004370.6(COL12A1):c.5093T>G (p.Met1698Arg)
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys) rs1369964113
NM_004370.6(COL12A1):c.5097+6T>A
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
NM_004370.6(COL12A1):c.5119A>T (p.Asn1707Tyr)
NM_004370.6(COL12A1):c.5122A>G (p.Thr1708Ala)
NM_004370.6(COL12A1):c.5123C>A (p.Thr1708Asn)
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val) rs2149475842
NM_004370.6(COL12A1):c.5145C>A (p.Asn1715Lys)
NM_004370.6(COL12A1):c.5149A>C (p.Asn1717His)
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn) rs1766737229
NM_004370.6(COL12A1):c.5159A>G (p.Tyr1720Cys)
NM_004370.6(COL12A1):c.5164G>A (p.Val1722Ile)
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala) rs750726658
NM_004370.6(COL12A1):c.5205T>G (p.Asp1735Glu)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
NM_004370.6(COL12A1):c.520G>A (p.Glu174Lys)
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
NM_004370.6(COL12A1):c.521A>G (p.Glu174Gly)
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser) rs530680231
NM_004370.6(COL12A1):c.5230+3A>G
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
NM_004370.6(COL12A1):c.5231-9_5231-8del
NM_004370.6(COL12A1):c.5252-15A>G
NM_004370.6(COL12A1):c.5258A>G (p.Lys1753Arg)
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
NM_004370.6(COL12A1):c.5299A>G (p.Asn1767Asp)
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr) rs2149394273
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro) rs748487098
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met) rs1766678485
NM_004370.6(COL12A1):c.5339T>C (p.Val1780Ala)
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
NM_004370.6(COL12A1):c.535G>C (p.Val179Leu)
NM_004370.6(COL12A1):c.5360A>G (p.Tyr1787Cys)
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu) rs1766675850
NM_004370.6(COL12A1):c.5369C>T (p.Ser1790Phe)
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser) rs2149394149
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys) rs370767331
NM_004370.6(COL12A1):c.5394+5T>G
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
NM_004370.6(COL12A1):c.5395-10T>C
NM_004370.6(COL12A1):c.5395-17G>A
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu) rs754812998
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile) rs1769824140
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
NM_004370.6(COL12A1):c.5458A>T (p.Thr1820Ser)
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
NM_004370.6(COL12A1):c.5468T>G (p.Val1823Gly)
NM_004370.6(COL12A1):c.5474C>T (p.Ser1825Phe)
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly) rs1419443025
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly) rs775456254
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys) rs374927144
NM_004370.6(COL12A1):c.5513G>A (p.Arg1838Lys)
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup) rs1766496347
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val) rs2149389596
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
NM_004370.6(COL12A1):c.5525-6T>A
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys) rs1769823295
NM_004370.6(COL12A1):c.5543G>A (p.Arg1848Lys)
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys) rs1235141094
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn) rs2149475753
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu) rs543663005
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser) rs1160822324
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu) rs377417661
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val) rs1370422060
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly) rs773807635
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln) rs1242897212
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys) rs1766437313
NM_004370.6(COL12A1):c.5664+3A>G rs2149387981
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser) rs2149387327
NM_004370.6(COL12A1):c.5687A>C (p.Asn1896Thr)
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr) rs2149387306
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser) rs1766408982
NM_004370.6(COL12A1):c.5717A>G (p.Asp1906Gly)
NM_004370.6(COL12A1):c.5720C>T (p.Thr1907Ile)
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala) rs1766405494
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val) rs2149387143
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn) rs1766404958
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser) rs2149387040
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=) rs199632288
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly) rs1474687066
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr) rs1562184031
NM_004370.6(COL12A1):c.5824G>C (p.Val1942Leu)
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile) rs2149385416
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly) rs1766324604
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn) rs2149385355
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr) rs2149385355
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
NM_004370.6(COL12A1):c.5873C>T (p.Pro1958Leu)
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met) rs536233725
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys) rs920578725
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser) rs200487396
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro) rs2149385256
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del) rs1766274789
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys) rs1400789071
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys) rs1766270191
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu) rs1013402934
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser) rs780638272
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met) rs1766265495
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
NM_004370.6(COL12A1):c.6103G>T (p.Gly2035Cys)
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg) rs569212577
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu) rs200777154
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr) rs1766227819
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser) rs1253942397
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys) rs769518059
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg) rs2149475605
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met) rs1766123299
NM_004370.6(COL12A1):c.6247C>A (p.Gln2083Lys)
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
NM_004370.6(COL12A1):c.6272A>C (p.Tyr2091Ser)
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn) rs1403624483
NM_004370.6(COL12A1):c.6278T>C (p.Ile2093Thr)
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg) rs1766116749
NM_004370.6(COL12A1):c.6326G>A (p.Gly2109Glu)
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=) rs1766115548
NM_004370.6(COL12A1):c.6341-9T>A rs1562169801
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg) rs1766019017
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu) rs1769818108
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys) rs1402262599
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val) rs1582209053
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr) rs1766015017
NM_004370.6(COL12A1):c.6425C>T (p.Pro2142Leu)
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu) rs1277921609
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys) rs1469571574
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
NM_004370.6(COL12A1):c.6460+6G>A
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser) rs1582089703
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu) rs1582089675
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr) rs920759306
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser) rs2149475535
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys) rs2149375589
NM_004370.6(COL12A1):c.6500C>G (p.Thr2167Arg) rs2149375589
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
NM_004370.6(COL12A1):c.652A>G (p.Met218Val) rs2149475531
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg) rs756215547
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
NM_004370.6(COL12A1):c.6544G>A (p.Val2182Met)
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe) rs1765951451
NM_004370.6(COL12A1):c.658+6T>C
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
NM_004370.6(COL12A1):c.658G>T (p.Gly220Trp)
NM_004370.6(COL12A1):c.6604A>G (p.Thr2202Ala) rs2149375402
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu) rs773548520
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu) rs761964344
NM_004370.6(COL12A1):c.6652G>A (p.Asp2218Asn)
NM_004370.6(COL12A1):c.6655A>G (p.Thr2219Ala)
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu) rs1562164671
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser) rs2149374223
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp) rs759202641
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln) rs1253362145
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile) rs1257364285
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe) rs1765905733
NM_004370.6(COL12A1):c.6712A>T (p.Ser2238Cys)
NM_004370.6(COL12A1):c.6724+6T>C
NM_004370.6(COL12A1):c.6724G>A (p.Gly2242Arg)
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile) rs746250737
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg) rs2149373796
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys) rs754290184
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr) rs2149373719
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala) rs1765885022
NM_004370.6(COL12A1):c.6779C>G (p.Thr2260Ser)
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu) rs1765882595
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr) rs1562162215
NM_004370.6(COL12A1):c.6895A>T (p.Thr2299Ser)
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys) rs2149372645
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg) rs780038146
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr) rs747966606
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del) rs745810321
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu) rs1765844509
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser) rs1554171436
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg) rs1302398240
NM_004370.6(COL12A1):c.6932C>T (p.Pro2311Leu)
NM_004370.6(COL12A1):c.6944A>G (p.Asp2315Gly)
NM_004370.6(COL12A1):c.6946+5G>A rs1582086058
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu) rs1765839616
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg) rs200443479
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004370.6(COL12A1):c.6980T>C (p.Leu2327Ser)
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His) rs1765722908
NM_004370.6(COL12A1):c.6988G>A (p.Ala2330Thr)
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr) rs1400495680
NM_004370.6(COL12A1):c.700T>C (p.Ser234Pro)
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala) rs778958906
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala) rs1765717648
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile) rs1231345150
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
NM_004370.6(COL12A1):c.7057T>C (p.Phe2353Leu)
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp) rs1055080261
NM_004370.6(COL12A1):c.7086+4A>G
NM_004370.6(COL12A1):c.7087-3C>T rs1769248501
NM_004370.6(COL12A1):c.7087-5T>G rs1410734553
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
NM_004370.6(COL12A1):c.7108G>A (p.Asp2370Asn)
NM_004370.6(COL12A1):c.7109A>G (p.Asp2370Gly)
NM_004370.6(COL12A1):c.7111G>C (p.Glu2371Gln)
NM_004370.6(COL12A1):c.7114G>A (p.Val2372Ile)
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val) rs2149366807
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr) rs1554188387
NM_004370.6(COL12A1):c.7168G>C (p.Ala2390Pro)
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser) rs2149366659
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro) rs1769243797
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
NM_004370.6(COL12A1):c.7210+3dup
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn) rs568748031
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg) rs141593495
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr) rs1769231502
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
NM_004370.6(COL12A1):c.7240G>T (p.Val2414Phe) rs2149366348
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
NM_004370.6(COL12A1):c.7256G>A (p.Ser2419Asn)
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser) rs1290886066
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val) rs910431488
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly) rs1769229174
NM_004370.6(COL12A1):c.7269G>T (p.Lys2423Asn)
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His) rs1769228699
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
NM_004370.6(COL12A1):c.7291G>A (p.Val2431Met)
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala) rs1769227311
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met) rs1769226903
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser) rs2149366214
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
NM_004370.6(COL12A1):c.7340T>C (p.Val2447Ala)
NM_004370.6(COL12A1):c.734C>T (p.Ala245Val)
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val) rs1224729276
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile) rs2149363695
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
NM_004370.6(COL12A1):c.7387G>A (p.Val2463Ile)
NM_004370.6(COL12A1):c.7391A>G (p.Asp2464Gly)
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
NM_004370.6(COL12A1):c.74-2A>T
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
NM_004370.6(COL12A1):c.7426A>G (p.Ser2476Gly)
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val) rs1769138600
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala) rs1769137471
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu) rs1470111741
NM_004370.6(COL12A1):c.7510G>T (p.Ala2504Ser)
NM_004370.6(COL12A1):c.7514C>G (p.Thr2505Ser)
NM_004370.6(COL12A1):c.7519+6T>C rs2149363457
NM_004370.6(COL12A1):c.7520-6T>C rs2149361702
NM_004370.6(COL12A1):c.7540G>A (p.Asp2514Asn)
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser) rs1468041100
NM_004370.6(COL12A1):c.7558+5G>A
NM_004370.6(COL12A1):c.7559-7T>G
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu) rs1769053374
NM_004370.6(COL12A1):c.7582A>C (p.Asn2528His)
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser) rs1168175119
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys) rs2149361441
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser) rs1769052516
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
NM_004370.6(COL12A1):c.7613A>G (p.Gln2538Arg)
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala) rs942074618
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
NM_004370.6(COL12A1):c.7637C>G (p.Ser2546Cys)
NM_004370.6(COL12A1):c.7658A>G (p.Tyr2553Cys)
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp) rs1302611725
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
NM_004370.6(COL12A1):c.7694C>T (p.Thr2565Ile)
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His) rs1364305836
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His) rs1768945805
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys) rs1312651383
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val) rs375113182
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala) rs1768943469
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
NM_004370.6(COL12A1):c.7803C>A (p.Asp2601Glu)
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu) rs1428757896
NM_004370.6(COL12A1):c.782C>G (p.Ala261Gly)
NM_004370.6(COL12A1):c.7841-3C>T
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu) rs1194345062
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys) rs1554188366
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala) rs1582069073
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu) rs2149482865
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del) rs1238774939
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
NM_004370.6(COL12A1):c.7950+5A>T rs771300269
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe) rs1347122880
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
NM_004370.6(COL12A1):c.7976G>T (p.Ser2659Ile)
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln) rs1768709126
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His) rs1324430356
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys) rs1770598850
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met) rs536679905
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
NM_004370.6(COL12A1):c.8039T>C (p.Ile2680Thr)
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met) rs1167733175
NM_004370.6(COL12A1):c.8041A>G (p.Thr2681Ala)
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His) rs2149353031
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
NM_004370.6(COL12A1):c.8086A>G (p.Arg2696Gly)
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
NM_004370.6(COL12A1):c.8100+4A>T rs2149352934
NM_004370.6(COL12A1):c.8100+5G>T
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr) rs1768551206
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn) rs1768550579
NM_004370.6(COL12A1):c.8178+6T>C
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=) rs1768547356
NM_004370.6(COL12A1):c.8179-17T>G
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg) rs1768494060
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
NM_004370.6(COL12A1):c.8215T>C (p.Cys2739Arg)
NM_004370.6(COL12A1):c.8219C>A (p.Thr2740Lys)
NM_004370.6(COL12A1):c.823+4G>A
NM_004370.6(COL12A1):c.8230G>A (p.Asp2744Asn)
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala) rs1582055239
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr) rs1768489455
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
NM_004370.6(COL12A1):c.8266-6T>G
NM_004370.6(COL12A1):c.8266-8T>A
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp) rs1554168599
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr) rs1768418483
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
NM_004370.6(COL12A1):c.8297A>C (p.Glu2766Ala)
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr) rs1473515166
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val) rs1476228934
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val) rs1254845133
NM_004370.6(COL12A1):c.8319+5G>A
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp) rs1768363255
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu) rs1768363108
NM_004370.6(COL12A1):c.8323C>G (p.Pro2775Ala)
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
NM_004370.6(COL12A1):c.8329G>A (p.Gly2777Ser)
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys) rs1768362148
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
NM_004370.6(COL12A1):c.8339G>A (p.Gly2780Glu)
NM_004370.6(COL12A1):c.8341G>A (p.Asp2781Asn)
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu) rs997353607
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu) rs1160043441
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1]) rs1562116272
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg) rs1768359621
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser) rs1582050849
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp) rs1768358751
NM_004370.6(COL12A1):c.8378C>T (p.Pro2793Leu)
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg) rs1582050802
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
NM_004370.6(COL12A1):c.8396T>C (p.Leu2799Pro)
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp) rs1768356411
NM_004370.6(COL12A1):c.8415+2dup
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys) rs2149343509
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
NM_004370.6(COL12A1):c.8444G>T (p.Gly2815Val)
NM_004370.6(COL12A1):c.8449C>G (p.Pro2817Ala)
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn) rs1280191331
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val) rs1554188241
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser) rs2149343047
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
NM_004370.6(COL12A1):c.8523+3A>G
NM_004370.6(COL12A1):c.8524-3T>G
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg) rs574147225
NM_004370.6(COL12A1):c.8577+4A>G rs1562105188
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=) rs1768087709
NM_004370.6(COL12A1):c.8578-6T>G
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala) rs2149333527
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg) rs1554167424
NM_004370.6(COL12A1):c.8606G>C (p.Gly2869Ala)
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val) rs1385414325
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=) rs1767942315
NM_004370.6(COL12A1):c.8649+6C>T rs1037107431
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=) rs900917198
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly) rs1767765917
NM_004370.6(COL12A1):c.8685+1G>A
NM_004370.6(COL12A1):c.8685+3A>G
NM_004370.6(COL12A1):c.8685+4T>C
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr) rs1319038184
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
NM_004370.6(COL12A1):c.8731G>A (p.Val2911Ile)
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg) rs1562093184
NM_004370.6(COL12A1):c.8752+5A>C
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile) rs1767695881
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
NM_004370.6(COL12A1):c.8773C>G (p.Gln2925Glu)
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu) rs752206319
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
NM_004370.6(COL12A1):c.8846C>G (p.Pro2949Arg)
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
NM_004370.6(COL12A1):c.8857G>A (p.Ala2953Thr)
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val) rs1554166746
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser) rs1562090566
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly) rs1769748525
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp) rs760317754
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu) rs369768310
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln) rs1767686939
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu) rs1582030236
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
NM_004370.6(COL12A1):c.8926C>T (p.Pro2976Ser)
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr) rs1310755474
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr) rs1404705545
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe) rs1767642437
NM_004370.6(COL12A1):c.8947C>T (p.Pro2983Ser)
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys) rs1767642101
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
NM_004370.6(COL12A1):c.8971_8973dup (p.Thr2991_Gly2992insThr)
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val) rs763589676
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly) rs1582219536
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
NM_004370.6(COL12A1):c.9010+2T>C
NM_004370.6(COL12A1):c.9010+4G>C rs2149325295
NM_004370.6(COL12A1):c.9010+5G>A
NM_004370.6(COL12A1):c.9010+6T>G
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu) rs1767574773
NM_004370.6(COL12A1):c.9026C>G (p.Ser3009Cys)
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile) rs1767574420
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile) rs1767573014
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro) rs1307746550
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
NM_004370.6(COL12A1):c.9068C>T (p.Pro3023Leu)
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser) rs560180665
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser) rs376189614
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu) rs1767570608
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs) rs2149322917
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys) rs1767569916
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu) rs1767566470
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly) rs2149322777
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val) rs751471471
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val) rs1769746949
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr) rs1268620135
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
NM_004370.6(COL12A1):c.9181+4C>G
NM_004370.6(COL12A1):c.9181+4C>T
NM_004370.6(COL12A1):c.9181+5G>A
NM_004370.6(COL12A1):c.9182-1G>C
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
NM_004370.6(COL12A1):c.935T>A (p.Ile312Asn)
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
NM_004370.6(COL12A1):c.978A>T (p.Glu326Asp)
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val) rs1442527803
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe) rs370040853
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn) rs1769743212
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
NM_004370.6(COL12A1):c.997+2T>C
NM_004370.6(COL12A1):c.997G>C (p.Val333Leu)
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449
NM_004544.4(NDUFA10):c.*1047T>C rs1694787943
NM_004544.4(NDUFA10):c.*1124C>T rs754187471
NM_004544.4(NDUFA10):c.*1129G>A rs886055822
NM_004544.4(NDUFA10):c.*1212T>C rs886055821
NM_004544.4(NDUFA10):c.*1391C>T rs552149779
NM_004544.4(NDUFA10):c.*1586A>G rs1483288404
NM_004544.4(NDUFA10):c.*1702G>A rs1694755462
NM_004544.4(NDUFA10):c.*1884G>C rs886055820
NM_004544.4(NDUFA10):c.*1894_*1914delinsGGG rs886055819
NM_004544.4(NDUFA10):c.*2009G>C rs370309206
NM_004544.4(NDUFA10):c.*2042A>C rs886055818
NM_004544.4(NDUFA10):c.*2046T>C rs1694740787
NM_004544.4(NDUFA10):c.*2079A>G rs1574808891
NM_004544.4(NDUFA10):c.*2136T>C rs943989946
NM_004544.4(NDUFA10):c.*2397A>G rs886055816
NM_004544.4(NDUFA10):c.*2838C>A rs532456176
NM_004544.4(NDUFA10):c.*2997G>A rs886055814
NM_004544.4(NDUFA10):c.*3009T>C rs1694711139
NM_004544.4(NDUFA10):c.*3052G>A rs1003876097
NM_004544.4(NDUFA10):c.*3175T>G rs1694704488
NM_004544.4(NDUFA10):c.*3301C>T rs1694700570
NM_004544.4(NDUFA10):c.*3403A>G rs1574807018
NM_004544.4(NDUFA10):c.*3408T>C rs886055810
NM_004544.4(NDUFA10):c.*3456T>G rs1694694826
NM_004544.4(NDUFA10):c.*3490G>C rs1694693520
NM_004544.4(NDUFA10):c.*3724G>A rs1694684016
NM_004544.4(NDUFA10):c.*412A>G rs546052985
NM_004544.4(NDUFA10):c.*435A>G rs1054245819
NM_004544.4(NDUFA10):c.*548G>C rs1694810369
NM_004544.4(NDUFA10):c.*732T>G rs1349086163
NM_004544.4(NDUFA10):c.*740C>T rs886055823
NM_004544.4(NDUFA10):c.*861C>G rs551167199
NM_004544.4(NDUFA10):c.-34C>T rs920826583
NM_004544.4(NDUFA10):c.-36C>T rs886055826
NM_004544.4(NDUFA10):c.1010G>A (p.Arg337His) rs201449418
NM_004544.4(NDUFA10):c.110G>T (p.Arg37Leu) rs558134843
NM_004544.4(NDUFA10):c.270G>A (p.Gly90=) rs770747594
NM_004544.4(NDUFA10):c.29C>T (p.Ala10Val) rs1258770997
NM_004544.4(NDUFA10):c.484T>C (p.Ser162Pro) rs1559403435
NM_004544.4(NDUFA10):c.558C>T (p.His186=) rs1407750102
NM_004544.4(NDUFA10):c.630C>T (p.Pro210=) rs148656779
NM_004544.4(NDUFA10):c.749+5G>A rs1697147446
NM_004544.4(NDUFA10):c.994A>G (p.Arg332Gly) rs758042753
NM_004550.5(NDUFS2):c.-28C>T rs886045458
NM_004550.5(NDUFS2):c.-388G>A rs3813623
NM_004551.3(NDUFS3):c.-15C>G rs950097510
NM_004551.3(NDUFS3):c.149G>A (p.Arg50Gln) rs1555198759
NM_004551.3(NDUFS3):c.190T>C (p.Tyr64His) rs886048391
NM_004551.3(NDUFS3):c.204C>G (p.Ile68Met) rs886044765
NM_004551.3(NDUFS3):c.381+5G>T rs886048392
NM_004551.3(NDUFS3):c.753T>G (p.Ser251Arg) rs752314902
NM_004553.6(NDUFS6):c.11C>T (p.Ala4Val) rs773943416
NM_004553.6(NDUFS6):c.369C>T (p.His123=) rs745565855
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)
NM_004614.5(TK2):c.367C>G (p.Arg123Gly) rs753881948
NM_004618.5(TOP3A):c.241-13T>G rs1981719689
NM_005006.6(NDUFS1):c.-149T>G rs572965960
NM_005006.7(NDUFS1):c.*1077A>T rs917604810
NM_005006.7(NDUFS1):c.*459A>G rs1691173843
NM_005006.7(NDUFS1):c.*504G>A rs548641207
NM_005006.7(NDUFS1):c.*846dup rs58253838
NM_005006.7(NDUFS1):c.*864G>A rs1691159722
NM_005006.7(NDUFS1):c.*93dup rs200446477
NM_005006.7(NDUFS1):c.-101G>A rs983757976
NM_005006.7(NDUFS1):c.-31A>G rs1687818178
NM_005006.7(NDUFS1):c.-38T>G rs1559071008
NM_005006.7(NDUFS1):c.-73C>A rs367649369
NM_005006.7(NDUFS1):c.-76G>A rs116137442
NM_005006.7(NDUFS1):c.1195GTT[1] (p.Val400del) rs1559055100
NM_005006.7(NDUFS1):c.1291C>T (p.Leu431Phe) rs78042826
NM_005006.7(NDUFS1):c.1393-7del rs760292289
NM_005006.7(NDUFS1):c.154-10_154-9del rs568965659
NM_005006.7(NDUFS1):c.262-15del rs34184317
NM_005006.7(NDUFS1):c.262-15dup rs34184317
NM_005006.7(NDUFS1):c.32T>A (p.Val11Glu) rs1367512688
NM_005006.7(NDUFS1):c.337A>G (p.Arg113Gly) rs1692265722
NM_005006.7(NDUFS1):c.986T>C (p.Met329Thr) rs774232299
NM_005035.4(POLRMT):c.719C>T (p.Pro240Leu)
NM_005087.4(FXR1):c.247A>G (p.Lys83Glu) rs1721862059
NM_005087.4(FXR1):c.28G>T (p.Gly10Cys)
NM_005087.4(FXR1):c.346A>G (p.Asn116Asp) rs1721905984
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)
NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)
NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)
NM_005138.3(SCO2):c.226C>T (p.Leu76=) rs942543259
NM_005138.3(SCO2):c.250A>G (p.Arg84Gly)
NM_005138.3(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.3(SCO2):c.358C>T (p.Arg120Trp)
NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) rs753614511
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)
NM_005138.3(SCO2):c.652dup (p.Gln218fs) rs2148670938
NM_005138.3(SCO2):c.738G>A (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) rs368908383
NM_005262.3(GFER):c.258+1G>A
NM_005262.3(GFER):c.280G>A (p.Asp94Asn) rs1490540568
NM_005262.3(GFER):c.352C>A (p.Pro118Thr)
NM_005876.5(SPEG):c.1114C>G (p.Arg372Gly)
NM_005876.5(SPEG):c.1625C>A (p.Pro542His) rs927960851
NM_005876.5(SPEG):c.2372G>A (p.Ser791Asn)
NM_005876.5(SPEG):c.257C>G (p.Pro86Arg)
NM_005876.5(SPEG):c.3074A>G (p.Lys1025Arg)
NM_005876.5(SPEG):c.340C>T (p.Arg114Trp) rs570323054
NM_005876.5(SPEG):c.3517A>C (p.Ile1173Leu)
NM_005876.5(SPEG):c.4117C>G (p.Pro1373Ala) rs200713879
NM_005876.5(SPEG):c.4362G>T (p.Val1454=)
NM_005876.5(SPEG):c.4377G>A (p.Met1459Ile)
NM_005876.5(SPEG):c.4660G>A (p.Val1554Ile)
NM_005876.5(SPEG):c.5707C>T (p.Arg1903Trp)
NM_005876.5(SPEG):c.5708G>A (p.Arg1903Gln)
NM_005876.5(SPEG):c.6415C>G (p.Arg2139Gly)
NM_005876.5(SPEG):c.6422G>C (p.Arg2141Pro)
NM_005876.5(SPEG):c.6697C>A (p.Gln2233Lys) rs587777672
NM_005876.5(SPEG):c.6739_6740delinsTT (p.Gln2247Leu) rs2125558050
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.7447C>T (p.Arg2483Cys)
NM_005876.5(SPEG):c.7847_7849del (p.Ser2616del)
NM_005876.5(SPEG):c.7940C>A (p.Ala2647Glu)
NM_005876.5(SPEG):c.8009G>A (p.Cys2670Tyr)
NM_005876.5(SPEG):c.800C>A (p.Ala267Glu) rs762057369
NM_005876.5(SPEG):c.8047C>T (p.Pro2683Ser)
NM_005876.5(SPEG):c.8290G>C (p.Glu2764Gln)
NM_005876.5(SPEG):c.851C>T (p.Pro284Leu)
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del) rs1575202038
NM_005876.5(SPEG):c.9134G>A (p.Arg3045Gln)
NM_005876.5(SPEG):c.9346A>G (p.Arg3116Gly)
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710
NM_006063.3(KLHL41):c.101A>G (p.Asp34Gly) rs2105307804
NM_006063.3(KLHL41):c.1055G>T (p.Gly352Val)
NM_006063.3(KLHL41):c.1076A>G (p.Asn359Ser)
NM_006063.3(KLHL41):c.1081G>T (p.Asp361Tyr)
NM_006063.3(KLHL41):c.1110+6_1110+8del rs1186579373
NM_006063.3(KLHL41):c.1114G>C (p.Asp372His)
NM_006063.3(KLHL41):c.1135G>A (p.Val379Ile) rs751438442
NM_006063.3(KLHL41):c.1183G>A (p.Glu395Lys) rs1684085913
NM_006063.3(KLHL41):c.1192G>T (p.Asp398Tyr) rs1574351200
NM_006063.3(KLHL41):c.1202A>G (p.Tyr401Cys) rs2105309733
NM_006063.3(KLHL41):c.1205T>C (p.Val402Ala) rs1684086471
NM_006063.3(KLHL41):c.1225C>G (p.Gln409Glu) rs1168210084
NM_006063.3(KLHL41):c.1268T>C (p.Val423Ala) rs1225657950
NM_006063.3(KLHL41):c.1273G>A (p.Ala425Thr) rs1451090688
NM_006063.3(KLHL41):c.1276A>G (p.Lys426Glu) rs750512280
NM_006063.3(KLHL41):c.1313A>G (p.Tyr438Cys)
NM_006063.3(KLHL41):c.1363A>C (p.Lys455Gln) rs940791315
NM_006063.3(KLHL41):c.1393G>A (p.Val465Met)
NM_006063.3(KLHL41):c.1393G>T (p.Val465Leu)
NM_006063.3(KLHL41):c.1409C>T (p.Pro470Leu) rs779897118
NM_006063.3(KLHL41):c.1412A>G (p.Lys471Arg)
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
NM_006063.3(KLHL41):c.1438C>T (p.Pro480Ser)
NM_006063.3(KLHL41):c.1464T>G (p.Phe488Leu) rs2105311166
NM_006063.3(KLHL41):c.1468G>A (p.Val490Ile)
NM_006063.3(KLHL41):c.146T>C (p.Leu49Ser) rs1684003271
NM_006063.3(KLHL41):c.1477C>T (p.His493Tyr) rs2105311181
NM_006063.3(KLHL41):c.1528G>C (p.Ala510Pro)
NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro) rs1574352719
NM_006063.3(KLHL41):c.1580A>G (p.Glu527Gly) rs2105312517
NM_006063.3(KLHL41):c.1590A>G (p.Gln530=)
NM_006063.3(KLHL41):c.1603A>T (p.Ile535Phe) rs2105312532
NM_006063.3(KLHL41):c.1624G>C (p.Gly542Arg)
NM_006063.3(KLHL41):c.1654A>G (p.Met552Val)
NM_006063.3(KLHL41):c.1662A>T (p.Gln554His) rs747439201
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
NM_006063.3(KLHL41):c.170_171delinsCT (p.Tyr57Ser) rs1684004022
NM_006063.3(KLHL41):c.1717GAT[3] (p.Asp574dup) rs765973620
NM_006063.3(KLHL41):c.176G>C (p.Arg59Pro) rs759521852
NM_006063.3(KLHL41):c.1789C>A (p.Arg597Ser) rs1033276582
NM_006063.3(KLHL41):c.199G>C (p.Asp67His) rs1446324489
NM_006063.3(KLHL41):c.223G>A (p.Val75Met)
NM_006063.3(KLHL41):c.229G>C (p.Asp77His) rs1222243445
NM_006063.3(KLHL41):c.22G>A (p.Ala8Thr) rs1684001399
NM_006063.3(KLHL41):c.233A>G (p.Asn78Ser)
NM_006063.3(KLHL41):c.241C>T (p.Pro81Ser)
NM_006063.3(KLHL41):c.266A>G (p.Lys89Arg)
NM_006063.3(KLHL41):c.314A>G (p.Asp105Gly)
NM_006063.3(KLHL41):c.318T>G (p.Ile106Met) rs1684007542
NM_006063.3(KLHL41):c.335G>A (p.Arg112His)
NM_006063.3(KLHL41):c.376C>G (p.Leu126Val)
NM_006063.3(KLHL41):c.391G>A (p.Ala131Thr) rs1202015569
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)
NM_006063.3(KLHL41):c.427CTT[2] (p.Leu145del) rs760524187
NM_006063.3(KLHL41):c.431T>C (p.Leu144Pro)
NM_006063.3(KLHL41):c.458C>A (p.Ser153Tyr) rs1684010288
NM_006063.3(KLHL41):c.463C>T (p.Arg155Cys)
NM_006063.3(KLHL41):c.464G>A (p.Arg155His)
NM_006063.3(KLHL41):c.495T>G (p.Ile165Met)
NM_006063.3(KLHL41):c.50C>G (p.Thr17Ser)
NM_006063.3(KLHL41):c.519A>T (p.Gln173His) rs144844327
NM_006063.3(KLHL41):c.524C>G (p.Ser175Cys) rs1684011448
NM_006063.3(KLHL41):c.52C>T (p.Leu18Phe)
NM_006063.3(KLHL41):c.539T>A (p.Ile180Asn)
NM_006063.3(KLHL41):c.558C>G (p.Asp186Glu)
NM_006063.3(KLHL41):c.61G>C (p.Asp21His)
NM_006063.3(KLHL41):c.631A>G (p.Arg211Gly) rs1684012984
NM_006063.3(KLHL41):c.65G>C (p.Gly22Ala) rs780361528
NM_006063.3(KLHL41):c.661T>A (p.Cys221Ser) rs2105308096
NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser) rs754460870
NM_006063.3(KLHL41):c.734A>T (p.Asn245Ile) rs1684014413
NM_006063.3(KLHL41):c.73G>A (p.Asp25Asn)
NM_006063.3(KLHL41):c.73G>T (p.Asp25Tyr)
NM_006063.3(KLHL41):c.743T>C (p.Leu248Pro) rs1684014498
NM_006063.3(KLHL41):c.769G>C (p.Asp257His) rs916111973
NM_006063.3(KLHL41):c.784A>G (p.Lys262Glu) rs759037384
NM_006063.3(KLHL41):c.806A>G (p.Asn269Ser)
NM_006063.3(KLHL41):c.807T>A (p.Asn269Lys) rs1684016282
NM_006063.3(KLHL41):c.869G>A (p.Gly290Asp)
NM_006063.3(KLHL41):c.869G>C (p.Gly290Ala)
NM_006063.3(KLHL41):c.931G>A (p.Asp311Asn)
NM_006063.3(KLHL41):c.935C>T (p.Thr312Ile)
NM_006063.3(KLHL41):c.959C>A (p.Thr320Lys) rs781536513
NM_006267.5(RANBP2):c.2415A>C (p.Glu805Asp) rs1022223760
NM_006757.4(TNNT3):c.67+128G>A
NM_006790.3(MYOT):c.*188A>C rs1561666869
NM_006790.3(MYOT):c.*50T>G rs1755640829
NM_006790.3(MYOT):c.-89del rs886059966
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu)
NM_006790.3(MYOT):c.1024+5G>A
NM_006790.3(MYOT):c.107_110del (p.Lys36fs) rs398124238
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) rs755615381
NM_006790.3(MYOT):c.1086G>C (p.Glu362Asp)
NM_006790.3(MYOT):c.1113G>C (p.Gln371His)
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu)
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr)
NM_006790.3(MYOT):c.1126C>G (p.Pro376Ala)
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr)
NM_006790.3(MYOT):c.113C>A (p.Ser38Tyr)
NM_006790.3(MYOT):c.1142T>C (p.Phe381Ser)
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter)
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser)
NM_006790.3(MYOT):c.118A>G (p.Ile40Val)
NM_006790.3(MYOT):c.1202A>G (p.Asp401Gly)
NM_006790.3(MYOT):c.1208C>T (p.Thr403Ile)
NM_006790.3(MYOT):c.1224A>T (p.Leu408Phe)
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln)
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) rs2149990334
NM_006790.3(MYOT):c.128A>C (p.Gln43Pro)
NM_006790.3(MYOT):c.1291G>A (p.Val431Met) rs756306645
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys)
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile)
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met)
NM_006790.3(MYOT):c.1323G>A (p.Thr441=)
NM_006790.3(MYOT):c.1325-1G>A
NM_006790.3(MYOT):c.1325-2A>G
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly)
NM_006790.3(MYOT):c.1328G>A (p.Arg443His)
NM_006790.3(MYOT):c.134G>A (p.Arg45His)
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) rs1358850010
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp)
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) rs141801816
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile)
NM_006790.3(MYOT):c.1369C>A (p.Arg457=)
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu)
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg)
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu) rs2149978825
NM_006790.3(MYOT):c.1391_1398del (p.Tyr463_Leu464insTer)
NM_006790.3(MYOT):c.1392A>T (p.Leu464Phe)
NM_006790.3(MYOT):c.1396C>T (p.Leu466Phe)
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg) rs1295267806
NM_006790.3(MYOT):c.139T>C (p.Cys47Arg)
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) rs149213350
NM_006790.3(MYOT):c.1413G>C (p.Leu471Phe)
NM_006790.3(MYOT):c.1417dup (p.Val473fs)
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.1424A>C (p.Gln475Pro)
NM_006790.3(MYOT):c.1425A>T (p.Gln475His)
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del)
NM_006790.3(MYOT):c.143C>G (p.Thr48Arg)
NM_006790.3(MYOT):c.1442_1444del (p.Gly481del)
NM_006790.3(MYOT):c.1453C>A (p.Arg485Ser)
NM_006790.3(MYOT):c.1454G>A (p.Arg485His)
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu)
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) rs199760778
NM_006790.3(MYOT):c.1474C>T (p.Leu492Phe)
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) rs1309789504
NM_006790.3(MYOT):c.1483A>G (p.Ser495Gly)
NM_006790.3(MYOT):c.1484G>A (p.Ser495Asn)
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.167C>T (p.Ser56Leu)
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly)
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys)
NM_006790.3(MYOT):c.170del (p.Thr57fs)
NM_006790.3(MYOT):c.176G>A (p.Ser59Asn)
NM_006790.3(MYOT):c.188C>T (p.Thr63Ile)
NM_006790.3(MYOT):c.1A>T (p.Met1Leu) rs1561657261
NM_006790.3(MYOT):c.212C>G (p.Ala71Gly)
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser)
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser) rs886044687
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys) rs1205992276
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
NM_006790.3(MYOT):c.298A>G (p.Ile100Val) rs1423966332
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu)
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr)
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) rs1295803826
NM_006790.3(MYOT):c.350A>G (p.Asp117Gly)
NM_006790.3(MYOT):c.356+13T>G rs1461754985
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter)
NM_006790.3(MYOT):c.367T>A (p.Ser123Thr)
NM_006790.3(MYOT):c.371C>T (p.Ser124Leu)
NM_006790.3(MYOT):c.387A>G (p.Ile129Met) rs1554102960
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) rs1554102961
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
NM_006790.3(MYOT):c.407C>G (p.Thr136Ser)
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.419A>T (p.Lys140Met)
NM_006790.3(MYOT):c.427C>T (p.Pro143Ser)
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser) rs1755197357
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr)
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) rs1214787397
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser)
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr)
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) rs2149978722
NM_006790.3(MYOT):c.524G>T (p.Gly175Val)
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys)
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu)
NM_006790.3(MYOT):c.53G>T (p.Gly18Val)
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) rs2149983161
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
NM_006790.3(MYOT):c.562del (p.Arg188fs)
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) rs370165036
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.610G>T (p.Asp204Tyr)
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr)
NM_006790.3(MYOT):c.61T>A (p.Leu21Met)
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) rs533510304
NM_006790.3(MYOT):c.653C>T (p.Ala218Val)
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser)
NM_006790.3(MYOT):c.677A>T (p.Gln226Leu)
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr) rs751876756
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) rs751876756
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.683+1G>C rs2149985981
NM_006790.3(MYOT):c.684-3T>C
NM_006790.3(MYOT):c.685A>G (p.Ser229Gly)
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro)
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) rs1755447825
NM_006790.3(MYOT):c.702G>C (p.Arg234Ser)
NM_006790.3(MYOT):c.709G>A (p.Val237Met)
NM_006790.3(MYOT):c.721G>T (p.Asp241Tyr)
NM_006790.3(MYOT):c.725C>T (p.Ala242Val)
NM_006790.3(MYOT):c.740T>G (p.Phe247Cys)
NM_006790.3(MYOT):c.76C>T (p.Pro26Ser)
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
NM_006790.3(MYOT):c.776T>G (p.Met259Arg)
NM_006790.3(MYOT):c.784G>C (p.Asp262His) rs1271782226
NM_006790.3(MYOT):c.808G>C (p.Asp270His) rs1561663452
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr)
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) rs767662244
NM_006790.3(MYOT):c.856A>C (p.Asn286His)
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) rs1580847200
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp)
NM_006790.3(MYOT):c.931G>C (p.Glu311Gln)
NM_006790.3(MYOT):c.935T>C (p.Val312Ala)
NM_006790.3(MYOT):c.937G>A (p.Val313Ile) rs760955035
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu) rs753927065
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) rs1330407694
NM_006790.3(MYOT):c.959C>T (p.Ala320Val) rs2149988068
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) rs2149988081
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys)
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) rs1554102559
NM_006828.4(ASCC3):c.4682T>C (p.Phe1561Ser)
NM_007078.2(LDB3):c.-23-?_93+?dup
NM_007078.3(LDB3):c.101C>G (p.Pro34Arg)
NM_007078.3(LDB3):c.1023C>T (p.Ala341=)
NM_007078.3(LDB3):c.1027A>G (p.Thr343Ala)
NM_007078.3(LDB3):c.1028C>T (p.Thr343Ile)
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup) rs1276121533
NM_007078.3(LDB3):c.1069C>T (p.Pro357Ser)
NM_007078.3(LDB3):c.1074C>A (p.Ala358=) rs45459491
NM_007078.3(LDB3):c.1086-11C>A
NM_007078.3(LDB3):c.1086-12G>C
NM_007078.3(LDB3):c.1086-19C>G
NM_007078.3(LDB3):c.1088C>G (p.Pro363Arg)
NM_007078.3(LDB3):c.108C>G (p.Ser36Arg) rs2132360019
NM_007078.3(LDB3):c.10A>C (p.Ser4Arg) rs727505295
NM_007078.3(LDB3):c.110A>G (p.Lys37Arg)
NM_007078.3(LDB3):c.110A>T (p.Lys37Met) rs2132360031
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
NM_007078.3(LDB3):c.1121C>T (p.Ala374Val) rs1554860812
NM_007078.3(LDB3):c.1134T>C (p.Pro378=)
NM_007078.3(LDB3):c.1150T>A (p.Tyr384Asn) rs1554860857
NM_007078.3(LDB3):c.1156G>A (p.Glu386Lys)
NM_007078.3(LDB3):c.115G>C (p.Ala39Pro) rs1844983837
NM_007078.3(LDB3):c.1161C>T (p.Gly387=)
NM_007078.3(LDB3):c.1165G>C (p.Ala389Pro)
NM_007078.3(LDB3):c.1166_1167inv (p.Ala389Gly)
NM_007078.3(LDB3):c.1184C>T (p.Pro395Leu) rs2132466193
NM_007078.3(LDB3):c.1186C>A (p.Arg396=)
NM_007078.3(LDB3):c.1186C>G (p.Arg396Gly)
NM_007078.3(LDB3):c.1186C>T (p.Arg396Trp)
NM_007078.3(LDB3):c.1187G>A (p.Arg396Gln)
NM_007078.3(LDB3):c.1205G>A (p.Ser402Asn)
NM_007078.3(LDB3):c.1206C>T (p.Ser402=)
NM_007078.3(LDB3):c.1211G>T (p.Arg404Leu)
NM_007078.3(LDB3):c.1226A>G (p.Gln409Arg)
NM_007078.3(LDB3):c.1231+12A>G
NM_007078.3(LDB3):c.1231+14dup
NM_007078.3(LDB3):c.1231+4A>C rs2132466323
NM_007078.3(LDB3):c.1231+6_1231+7delinsGC rs2132466334
NM_007078.3(LDB3):c.1231+8del
NM_007078.3(LDB3):c.1231G>C (p.Val411Leu) rs1846585105
NM_007078.3(LDB3):c.1232-11G>T
NM_007078.3(LDB3):c.1232-19T>G
NM_007078.3(LDB3):c.1232-6_1232-5delinsGG
NM_007078.3(LDB3):c.1234C>G (p.Pro412Ala)
NM_007078.3(LDB3):c.1234C>T (p.Pro412Ser)
NM_007078.3(LDB3):c.1243A>T (p.Thr415Ser) rs2132481387
NM_007078.3(LDB3):c.1248C>T (p.Tyr416=)
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu) rs141870580
NM_007078.3(LDB3):c.1264G>A (p.Ala422Thr)
NM_007078.3(LDB3):c.1274G>A (p.Ser425Asn)
NM_007078.3(LDB3):c.1287C>T (p.Tyr429=)
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser) rs746183666
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile) rs746183666
NM_007078.3(LDB3):c.1294del (p.Ser432fs) rs756413215
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[3] (p.434APAYTPSP[3]) rs397517209
NM_007078.3(LDB3):c.1297C>A (p.Pro433Thr)
NM_007078.3(LDB3):c.1297C>G (p.Pro433Ala)
NM_007078.3(LDB3):c.1310A>G (p.Tyr437Cys)
NM_007078.3(LDB3):c.1313C>G (p.Thr438Ser) rs767914340
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
NM_007078.3(LDB3):c.1328C>T (p.Pro443Leu) rs1554863327
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
NM_007078.3(LDB3):c.1337C>T (p.Thr446Ile) rs200476126
NM_007078.3(LDB3):c.1341C>G (p.Pro447=)
NM_007078.3(LDB3):c.1345C>T (p.Pro449Ser)
NM_007078.3(LDB3):c.1351C>G (p.Pro451Ala) rs1589674758
NM_007078.3(LDB3):c.1361C>T (p.Thr454Ile) rs780337957
NM_007078.3(LDB3):c.1363C>T (p.Pro455Ser)
NM_007078.3(LDB3):c.1369C>T (p.Pro457Ser)
NM_007078.3(LDB3):c.1370C>T (p.Pro457Leu)
NM_007078.3(LDB3):c.1379C>T (p.Ala460Val)
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
NM_007078.3(LDB3):c.1388C>T (p.Pro463Leu)
NM_007078.3(LDB3):c.1396G>A (p.Ala466Thr)
NM_007078.3(LDB3):c.1414G>C (p.Ala472Pro) rs546736974
NM_007078.3(LDB3):c.1415C>T (p.Ala472Val)
NM_007078.3(LDB3):c.1420T>C (p.Ser474Pro)
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser) rs1222316982
NM_007078.3(LDB3):c.1437G>T (p.Gly479=)
NM_007078.3(LDB3):c.1438G>A (p.Gly480Ser)
NM_007078.3(LDB3):c.1440C>T (p.Gly480=)
NM_007078.3(LDB3):c.1445C>G (p.Ala482Gly)
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.3(LDB3):c.1446_1454del (p.Glu483_Ala485del) rs1398383245
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys) rs950395877
NM_007078.3(LDB3):c.145G>A (p.Val49Met) rs200645175
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg) rs1589675054
NM_007078.3(LDB3):c.1471G>A (p.Val491Met) rs397517215
NM_007078.3(LDB3):c.1471G>T (p.Val491Leu) rs397517215
NM_007078.3(LDB3):c.1483A>G (p.Ser495Gly) rs2132482506
NM_007078.3(LDB3):c.1488C>T (p.Phe496=)
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn) rs1278770988
NM_007078.3(LDB3):c.149T>C (p.Val50Ala) rs1844986603
NM_007078.3(LDB3):c.1505C>T (p.Pro502Leu) rs528611881
NM_007078.3(LDB3):c.1508G>A (p.Gly503Asp) rs777459539
NM_007078.3(LDB3):c.1512G>A (p.Lys504=)
NM_007078.3(LDB3):c.1529G>A (p.Ser510Asn)
NM_007078.3(LDB3):c.152C>T (p.Ala51Val)
NM_007078.3(LDB3):c.1535A>G (p.Gln512Arg) rs138951890
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn) rs748433510
NM_007078.3(LDB3):c.1538C>T (p.Thr513Ile) rs748433510
NM_007078.3(LDB3):c.1543C>A (p.Pro515Thr)
NM_007078.3(LDB3):c.1543C>T (p.Pro515Ser)
NM_007078.3(LDB3):c.1547G>T (p.Arg516Leu)
NM_007078.3(LDB3):c.1565C>A (p.Thr522Asn) rs1846888303
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile) rs1846888303
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1570G>A (p.Ala524Thr)
NM_007078.3(LDB3):c.1574G>C (p.Gly525Ala)
NM_007078.3(LDB3):c.157G>A (p.Asp53Asn) rs2132360328
NM_007078.3(LDB3):c.1591C>G (p.Leu531Val) rs2132482794
NM_007078.3(LDB3):c.1591C>T (p.Leu531Phe)
NM_007078.3(LDB3):c.1598G>T (p.Arg533Met)
NM_007078.3(LDB3):c.1599G>C (p.Arg533Ser) rs1846890284
NM_007078.3(LDB3):c.1602_1603insTGCCAC (p.Gly534_Thr535insCysHis)
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1604C>T (p.Thr535Ile)
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala) rs727503128
NM_007078.3(LDB3):c.160G>C (p.Gly54Arg) rs201786090
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter) rs1004518756
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
NM_007078.3(LDB3):c.1631C>A (p.Ala544Asp) rs1265432173
NM_007078.3(LDB3):c.1647A>G (p.Pro549=)
NM_007078.3(LDB3):c.1649T>C (p.Leu550Pro) rs1589675409
NM_007078.3(LDB3):c.1654G>T (p.Gly552Cys) rs771007816
NM_007078.3(LDB3):c.1671C>T (p.Val557=)
NM_007078.3(LDB3):c.1676G>T (p.Arg559Leu)
NM_007078.3(LDB3):c.1677-18C>T
NM_007078.3(LDB3):c.1677G>A (p.Arg559=) rs1846936388
NM_007078.3(LDB3):c.1679G>A (p.Gly560Asp)
NM_007078.3(LDB3):c.1679G>T (p.Gly560Val)
NM_007078.3(LDB3):c.167A>G (p.Asn56Ser) rs751482077
NM_007078.3(LDB3):c.1687C>T (p.Leu563=)
NM_007078.3(LDB3):c.1689G>T (p.Leu563=)
NM_007078.3(LDB3):c.1700G>A (p.Gly567Asp) rs2132485348
NM_007078.3(LDB3):c.1702C>A (p.Arg568Ser)
NM_007078.3(LDB3):c.1702C>T (p.Arg568Cys)
NM_007078.3(LDB3):c.1711C>A (p.His571Asn) rs777095535
NM_007078.3(LDB3):c.1714C>T (p.Pro572Ser)
NM_007078.3(LDB3):c.1719A>G (p.Glu573=)
NM_007078.3(LDB3):c.1725C>T (p.Phe575=)
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln) rs751506530
NM_007078.3(LDB3):c.1745C>T (p.Thr582Ile)
NM_007078.3(LDB3):c.1752G>C (p.Leu584=) rs1589676711
NM_007078.3(LDB3):c.175A>G (p.Thr59Ala)
NM_007078.3(LDB3):c.1760T>C (p.Val587Ala)
NM_007078.3(LDB3):c.1761G>A (p.Val587=)
NM_007078.3(LDB3):c.1763G>A (p.Cys588Tyr) rs1449207508
NM_007078.3(LDB3):c.1771G>C (p.Glu591Gln)
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1777C>A (p.Gln593Lys) rs2132485566
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) rs747523570
NM_007078.3(LDB3):c.1812A>G (p.Gln604=) rs1846942056
NM_007078.3(LDB3):c.1821C>T (p.Ala607=)
NM_007078.3(LDB3):c.1824_1825delinsAA (p.Leu609Met) rs2132485761
NM_007078.3(LDB3):c.1827G>C (p.Leu609=)
NM_007078.3(LDB3):c.182C>T (p.Thr61Ile)
NM_007078.3(LDB3):c.1835A>G (p.Lys612Arg)
NM_007078.3(LDB3):c.1835A>T (p.Lys612Met)
NM_007078.3(LDB3):c.1845C>T (p.Thr615=)
NM_007078.3(LDB3):c.184C>T (p.His62Tyr) rs779234633
NM_007078.3(LDB3):c.1857+16C>T
NM_007078.3(LDB3):c.1857+3A>G rs367942602
NM_007078.3(LDB3):c.1857+6T>C rs2132485825
NM_007078.3(LDB3):c.1857G>T (p.Gly619=)
NM_007078.3(LDB3):c.1858-15G>A
NM_007078.3(LDB3):c.1858-3C>A rs748601174
NM_007078.3(LDB3):c.1858-6C>T rs2132487012
NM_007078.3(LDB3):c.1864A>T (p.Met622Leu)
NM_007078.3(LDB3):c.1867C>A (p.His623Asn)
NM_007078.3(LDB3):c.1882A>G (p.Thr628Ala)
NM_007078.3(LDB3):c.1888C>A (p.His630Asn) rs2132487146
NM_007078.3(LDB3):c.1895C>A (p.Thr632Asn) rs1195333947
NM_007078.3(LDB3):c.1895C>G (p.Thr632Ser) rs1195333947
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
NM_007078.3(LDB3):c.1902C>A (p.Phe634Leu) rs773904344
NM_007078.3(LDB3):c.1903G>C (p.Val635Leu) rs45618633
NM_007078.3(LDB3):c.1904T>A (p.Val635Asp) rs567014755
NM_007078.3(LDB3):c.1907G>A (p.Cys636Tyr) rs397517218
NM_007078.3(LDB3):c.1935C>G (p.Asn645Lys) rs1846970016
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
NM_007078.3(LDB3):c.1939C>T (p.Leu647Phe)
NM_007078.3(LDB3):c.1948A>G (p.Met650Val)
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
NM_007078.3(LDB3):c.1957G>C (p.Gly653Arg) rs149945820
NM_007078.3(LDB3):c.1960G>A (p.Glu654Lys)
NM_007078.3(LDB3):c.1973A>G (p.Glu658Gly)
NM_007078.3(LDB3):c.1978+13C>T
NM_007078.3(LDB3):c.1978+17G>A
NM_007078.3(LDB3):c.1978+2_1978+5del rs1554864768
NM_007078.3(LDB3):c.1978+6A>G rs1846973492
NM_007078.3(LDB3):c.1979-20C>T
NM_007078.3(LDB3):c.1979-7A>C
NM_007078.3(LDB3):c.1985T>A (p.Ile662Asn) rs2132503371
NM_007078.3(LDB3):c.1990C>T (p.Leu664=)
NM_007078.3(LDB3):c.1997G>A (p.Ser666Asn)
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
NM_007078.3(LDB3):c.2027del (p.Val676fs) rs2132503498
NM_007078.3(LDB3):c.2031G>T (p.Glu677Asp)
NM_007078.3(LDB3):c.2049C>G (p.Ile683Met)
NM_007078.3(LDB3):c.2055C>T (p.Ala685=)
NM_007078.3(LDB3):c.2062C>T (p.His688Tyr)
NM_007078.3(LDB3):c.2066C>G (p.Thr689Ser) rs1847250272
NM_007078.3(LDB3):c.2085C>T (p.Phe695=)
NM_007078.3(LDB3):c.2092G>T (p.Ala698Ser) rs45577134
NM_007078.3(LDB3):c.2094+3A>G rs1847251626
NM_007078.3(LDB3):c.2094+4T>A
NM_007078.3(LDB3):c.2095-18G>T
NM_007078.3(LDB3):c.2103T>C (p.His701=)
NM_007078.3(LDB3):c.2104G>T (p.Val702Leu) rs773235586
NM_007078.3(LDB3):c.2108A>C (p.Asn703Thr)
NM_007078.3(LDB3):c.2108A>G (p.Asn703Ser)
NM_007078.3(LDB3):c.2109T>A (p.Asn703Lys)
NM_007078.3(LDB3):c.2110C>A (p.Leu704Met)
NM_007078.3(LDB3):c.2119C>G (p.Gln707Glu)
NM_007078.3(LDB3):c.211T>G (p.Ser71Ala)
NM_007078.3(LDB3):c.2128T>C (p.Tyr710His) rs1847526825
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys) rs772249948
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
NM_007078.3(LDB3):c.2136del (p.Lys713fs) rs1847527465
NM_007078.3(LDB3):c.2137A>G (p.Lys713Glu)
NM_007078.3(LDB3):c.2147C>A (p.Pro716His)
NM_007078.3(LDB3):c.2147C>T (p.Pro716Leu)
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg) rs753237785
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) rs397517220
NM_007078.3(LDB3):c.2164G>T (p.Ala722Ser)
NM_007078.3(LDB3):c.2167C>T (p.His723Tyr)
NM_007078.3(LDB3):c.2173A>C (p.Ile725Leu) rs1554870749
NM_007078.3(LDB3):c.2173A>G (p.Ile725Val) rs1554870749
NM_007078.3(LDB3):c.2174T>C (p.Ile725Thr) rs748399477
NM_007078.3(LDB3):c.2175C>T (p.Ile725=)
NM_007078.3(LDB3):c.2177A>G (p.Asn726Ser) rs1335747231
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
NM_007078.3(LDB3):c.218G>A (p.Ser73Asn)
NM_007078.3(LDB3):c.221A>T (p.Tyr74Phe)
NM_007078.3(LDB3):c.23C>A (p.Thr8Asn) rs1060501317
NM_007078.3(LDB3):c.246-11G>A
NM_007078.3(LDB3):c.246-1G>A
NM_007078.3(LDB3):c.246-3C>T
NM_007078.3(LDB3):c.256C>T (p.Pro86Ser)
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
NM_007078.3(LDB3):c.280C>T (p.Pro94Ser)
NM_007078.3(LDB3):c.287T>C (p.Val96Ala) rs794729056
NM_007078.3(LDB3):c.290A>G (p.Gln97Arg) rs762580653
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
NM_007078.3(LDB3):c.299T>C (p.Leu100Pro)
NM_007078.3(LDB3):c.304G>A (p.Val102Met) rs1845031056
NM_007078.3(LDB3):c.31G>T (p.Gly11Trp)
NM_007078.3(LDB3):c.322-1G>A rs794729059
NM_007078.3(LDB3):c.327del (p.Ala110fs)
NM_007078.3(LDB3):c.329C>T (p.Ala110Val) rs1204980784
NM_007078.3(LDB3):c.359C>A (p.Pro120His) rs1365965245
NM_007078.3(LDB3):c.377C>T (p.Ala126Val)
NM_007078.3(LDB3):c.385A>T (p.Ser129Cys)
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1]) rs750334087
NM_007078.3(LDB3):c.398_454dup (p.Ala151_Phe152insSerGlyThrProGluLeuArgProThrPheSerProAlaPheSerArgProSerAla)
NM_007078.3(LDB3):c.424T>C (p.Phe142Leu) rs2132371597
NM_007078.3(LDB3):c.456CTC[1] (p.Ser154del)
NM_007078.3(LDB3):c.464T>C (p.Leu155Pro)
NM_007078.3(LDB3):c.466G>C (p.Ala156Pro) rs200596619
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.469G>C (p.Glu157Gln)
NM_007078.3(LDB3):c.46C>T (p.Arg16Cys)
NM_007078.3(LDB3):c.472G>T (p.Ala158Ser)
NM_007078.3(LDB3):c.473C>T (p.Ala158Val)
NM_007078.3(LDB3):c.494G>T (p.Arg165Leu) rs61857115
NM_007078.3(LDB3):c.4T>A (p.Ser2Thr) rs1564626023
NM_007078.3(LDB3):c.508G>T (p.Ala170Ser)
NM_007078.3(LDB3):c.50T>C (p.Leu17Pro) rs2132320405
NM_007078.3(LDB3):c.525G>C (p.Glu175Asp) rs757099637
NM_007078.3(LDB3):c.526G>A (p.Gly176Arg) rs149167391
NM_007078.3(LDB3):c.526G>C (p.Gly176Arg)
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.541C>T (p.Leu181Phe) rs1589623326
NM_007078.3(LDB3):c.544G>A (p.Gly182Ser)
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp) rs2132372366
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.55G>A (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.55G>T (p.Gly19Trp) rs777413488
NM_007078.3(LDB3):c.567_568delinsTT (p.Ser190Cys) rs2132372538
NM_007078.3(LDB3):c.56G>A (p.Gly19Glu) rs753314972
NM_007078.3(LDB3):c.573G>T (p.Gln191His)
NM_007078.3(LDB3):c.574C>T (p.Pro192Ser)
NM_007078.3(LDB3):c.575C>G (p.Pro192Arg) rs758182278
NM_007078.3(LDB3):c.58G>A (p.Gly20Ser)
NM_007078.3(LDB3):c.59G>A (p.Gly20Asp) rs1844291597
NM_007078.3(LDB3):c.59G>T (p.Gly20Val)
NM_007078.3(LDB3):c.614A>C (p.Glu205Ala)
NM_007078.3(LDB3):c.61A>G (p.Lys21Glu)
NM_007078.3(LDB3):c.626A>T (p.Glu209Val) rs1845153117
NM_007078.3(LDB3):c.662A>G (p.Lys221Arg)
NM_007078.3(LDB3):c.680T>A (p.Leu227His) rs888143005
NM_007078.3(LDB3):c.685G>A (p.Gly229Arg) rs1383872346
NM_007078.3(LDB3):c.686G>C (p.Gly229Ala) rs1131691665
NM_007078.3(LDB3):c.689+3901A>G
NM_007078.3(LDB3):c.690-17CT[2]
NM_007078.3(LDB3):c.690-4618C>A rs764620834
NM_007078.3(LDB3):c.690-4618C>T
NM_007078.3(LDB3):c.690-4619G>A
NM_007078.3(LDB3):c.690-4619_690-4618delinsTA rs1060501314
NM_007078.3(LDB3):c.690-4621A>T rs370053163
NM_007078.3(LDB3):c.690-4830C>A rs2132396540
NM_007078.3(LDB3):c.691A>T (p.Ser231Cys)
NM_007078.3(LDB3):c.701T>C (p.Ile234Thr)
NM_007078.3(LDB3):c.705G>C (p.Lys235Asn)
NM_007078.3(LDB3):c.706G>C (p.Asp236His)
NM_007078.3(LDB3):c.721A>G (p.Ser241Gly)
NM_007078.3(LDB3):c.722G>A (p.Ser241Asn)
NM_007078.3(LDB3):c.730C>G (p.Pro244Ala) rs1205511323
NM_007078.3(LDB3):c.732C>G (p.Pro244=)
NM_007078.3(LDB3):c.74T>C (p.Met25Thr)
NM_007078.3(LDB3):c.763A>G (p.Lys255Glu)
NM_007078.3(LDB3):c.76C>T (p.Pro26Ser) rs778865072
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
NM_007078.3(LDB3):c.805A>C (p.Asn269His) rs1367297073
NM_007078.3(LDB3):c.806A>G (p.Asn269Ser) rs1307504553
NM_007078.3(LDB3):c.80T>C (p.Leu27Pro) rs1057517864
NM_007078.3(LDB3):c.815C>T (p.Ser272Phe)
NM_007078.3(LDB3):c.833T>G (p.Leu278Arg) rs1845789692
NM_007078.3(LDB3):c.836C>G (p.Ala279Gly) rs2132415804
NM_007078.3(LDB3):c.83C>G (p.Thr28Ser)
NM_007078.3(LDB3):c.859+20G>A
NM_007078.3(LDB3):c.859+3G>A rs376313045
NM_007078.3(LDB3):c.859+5G>C
NM_007078.3(LDB3):c.860-22_860-12del rs727504602
NM_007078.3(LDB3):c.860-3C>T
NM_007078.3(LDB3):c.860-6C>G
NM_007078.3(LDB3):c.868C>A (p.Pro290Thr)
NM_007078.3(LDB3):c.86T>A (p.Ile29Asn)
NM_007078.3(LDB3):c.878A>C (p.Glu293Ala) rs1288594486
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter) rs1060501316
NM_007078.3(LDB3):c.891G>T (p.Arg297Ser) rs374336814
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro) rs953198544
NM_007078.3(LDB3):c.896+6695T>C rs1846150336
NM_007078.3(LDB3):c.896+6814G>A rs1846157787
NM_007078.3(LDB3):c.896+6872G>A rs1037329839
NM_007078.3(LDB3):c.896+6957G>A rs886047354
NM_007078.3(LDB3):c.897-6525T>C rs886047356
NM_007078.3(LDB3):c.897-6702C>G rs1188752285
NM_007078.3(LDB3):c.897-6707G>A rs537660741
NM_007078.3(LDB3):c.897-6759C>G rs11594242
NM_007078.3(LDB3):c.897-7T>A rs1846448550
NM_007078.3(LDB3):c.897C>T (p.Ser299=)
NM_007078.3(LDB3):c.89C>A (p.Ser30Tyr) rs1844293917
NM_007078.3(LDB3):c.89C>G (p.Ser30Cys)
NM_007078.3(LDB3):c.904A>G (p.Ile302Val)
NM_007078.3(LDB3):c.913G>C (p.Ala305Pro) rs573547650
NM_007078.3(LDB3):c.914C>T (p.Ala305Val)
NM_007078.3(LDB3):c.915G>A (p.Ala305=) rs753526743
NM_007078.3(LDB3):c.91C>G (p.Arg31Gly) rs367792378
NM_007078.3(LDB3):c.923G>C (p.Cys308Ser)
NM_007078.3(LDB3):c.928A>G (p.Ser310Gly)
NM_007078.3(LDB3):c.92G>A (p.Arg31Gln) rs1410128172
NM_007078.3(LDB3):c.930C>A (p.Ser310Arg)
NM_007078.3(LDB3):c.932A>C (p.Gln311Pro)
NM_007078.3(LDB3):c.934G>A (p.Ala312Thr)
NM_007078.3(LDB3):c.937A>C (p.Thr313Pro) rs1310203563
NM_007078.3(LDB3):c.937A>G (p.Thr313Ala)
NM_007078.3(LDB3):c.93G>A (p.Arg31=) rs1564626245
NM_007078.3(LDB3):c.941C>T (p.Thr314Ile)
NM_007078.3(LDB3):c.945G>C (p.Pro315=)
NM_007078.3(LDB3):c.94A>G (p.Ile32Val)
NM_007078.3(LDB3):c.953C>A (p.Pro318His) rs1846452720
NM_007078.3(LDB3):c.960T>C (p.Ser320=)
NM_007078.3(LDB3):c.961G>A (p.Ala321Thr)
NM_007078.3(LDB3):c.975_992del (p.Ala327_Ala332del)
NM_007078.3(LDB3):c.990T>C (p.Ser330=)
NM_007078.3(LDB3):c.998C>T (p.Ser333Leu) rs1458557837
NM_007103.3(NDUFV1):c.-111T>C rs563140258
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.*14C>T rs886048590
NM_007103.4(NDUFV1):c.-34T>A rs886048586
NM_007103.4(NDUFV1):c.-61A>G rs947406124
NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=) rs1854932368
NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=) rs147719815
NM_007103.4(NDUFV1):c.166T>A (p.Ser56Thr) rs201727685
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.499T>G (p.Ser167Ala) rs773368756
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322
NM_007215.4(POLG2):c.-66C>T rs886053251
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) rs782004592
NM_007215.4(POLG2):c.1060T>C (p.Phe354Leu)
NM_007215.4(POLG2):c.1189C>T (p.Gln397Ter)
NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) rs2037794198
NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) rs1568079693
NM_007215.4(POLG2):c.358G>A (p.Val120Met) rs782034872
NM_007215.4(POLG2):c.381G>A (p.Pro127=) rs2038155788
NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) rs371515325
NM_007215.4(POLG2):c.743C>T (p.Ser248Leu) rs1316363979
NM_007215.4(POLG2):c.749A>G (p.Gln250Arg) rs782071363
NM_007215.4(POLG2):c.770G>A (p.Arg257His)
NM_007215.4(POLG2):c.970-4G>A rs2037942296
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014165.4(NDUFAF4):c.*1008T>C rs886061827
NM_014165.4(NDUFAF4):c.*1121A>G rs886061826
NM_014165.4(NDUFAF4):c.*1247A>G rs1775290779
NM_014165.4(NDUFAF4):c.*1363G>A rs184678986
NM_014165.4(NDUFAF4):c.*14A>C rs1775308769
NM_014165.4(NDUFAF4):c.*289C>G rs143895125
NM_014165.4(NDUFAF4):c.*289C>T rs143895125
NM_014165.4(NDUFAF4):c.*305C>A rs576437181
NM_014165.4(NDUFAF4):c.*612A>G rs886061828
NM_014165.4(NDUFAF4):c.-11G>T rs571796525
NM_014165.4(NDUFAF4):c.-20G>T rs1186295770
NM_014165.4(NDUFAF4):c.-24C>G rs886061830
NM_014165.4(NDUFAF4):c.-32del rs886061831
NM_014165.4(NDUFAF4):c.-33G>T rs886061832
NM_014165.4(NDUFAF4):c.-40C>T rs749427985
NM_014165.4(NDUFAF4):c.223C>G (p.Pro75Ala) rs886061829
NM_014165.4(NDUFAF4):c.268C>T (p.Pro90Ser) rs1775313687
NM_014165.4(NDUFAF4):c.60G>T (p.Arg20=) rs1562146819
NM_015602.4(TOR1AIP1):c.1036G>A (p.Ala346Thr)
NM_015602.4(TOR1AIP1):c.1037C>A (p.Ala346Asp)
NM_015602.4(TOR1AIP1):c.1052G>C (p.Ser351Thr)
NM_015602.4(TOR1AIP1):c.1078G>A (p.Val360Ile)
NM_015602.4(TOR1AIP1):c.1088C>G (p.Thr363Ser)
NM_015602.4(TOR1AIP1):c.1133dup (p.Tyr379fs)
NM_015602.4(TOR1AIP1):c.1199G>A (p.Ser400Asn)
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
NM_015602.4(TOR1AIP1):c.1211G>A (p.Arg404Gln)
NM_015602.4(TOR1AIP1):c.121G>A (p.Asp41Asn) rs548996424
NM_015602.4(TOR1AIP1):c.121G>T (p.Asp41Tyr) rs548996424
NM_015602.4(TOR1AIP1):c.1223C>G (p.Ala408Gly) rs1649063593
NM_015602.4(TOR1AIP1):c.1225A>G (p.Ile409Val) rs752847821
NM_015602.4(TOR1AIP1):c.1226T>G (p.Ile409Ser) rs1649063848
NM_015602.4(TOR1AIP1):c.1244C>T (p.Ala415Val)
NM_015602.4(TOR1AIP1):c.1250A>T (p.Asp417Val)
NM_015602.4(TOR1AIP1):c.1279del (p.Glu427fs)
NM_015602.4(TOR1AIP1):c.1309C>T (p.Arg437Cys) rs1649066648
NM_015602.4(TOR1AIP1):c.1313G>A (p.Ser438Asn) rs1649066917
NM_015602.4(TOR1AIP1):c.1330A>G (p.Ile444Val) rs1571740939
NM_015602.4(TOR1AIP1):c.1334A>T (p.Asp445Val)
NM_015602.4(TOR1AIP1):c.1344T>G (p.Asp448Glu)
NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser)
NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys)
NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile)
NM_015602.4(TOR1AIP1):c.1419G>T (p.Gln473His)
NM_015602.4(TOR1AIP1):c.1441T>G (p.Phe481Val) rs762266968
NM_015602.4(TOR1AIP1):c.1465A>T (p.Thr489Ser) rs375127929
NM_015602.4(TOR1AIP1):c.1471A>T (p.Ile491Phe)
NM_015602.4(TOR1AIP1):c.1477T>C (p.Tyr493His) rs1571741081
NM_015602.4(TOR1AIP1):c.1478A>G (p.Tyr493Cys) rs1571741085
NM_015602.4(TOR1AIP1):c.1495G>A (p.Glu499Lys) rs2148484301
NM_015602.4(TOR1AIP1):c.1568T>A (p.Leu523Gln) rs201388189
NM_015602.4(TOR1AIP1):c.1604T>C (p.Phe535Ser) rs1649081168
NM_015602.4(TOR1AIP1):c.1609A>G (p.Lys537Glu) rs1558048637
NM_015602.4(TOR1AIP1):c.1613T>A (p.Val538Asp) rs774345665
NM_015602.4(TOR1AIP1):c.163C>G (p.Arg55Gly) rs1248211584
NM_015602.4(TOR1AIP1):c.1646A>G (p.Tyr549Cys) rs762657793
NM_015602.4(TOR1AIP1):c.1649A>G (p.Asn550Ser) rs567959058
NM_015602.4(TOR1AIP1):c.164G>A (p.Arg55Gln) rs770204192
NM_015602.4(TOR1AIP1):c.1688G>A (p.Arg563His) rs748833315
NM_015602.4(TOR1AIP1):c.1688G>T (p.Arg563Leu)
NM_015602.4(TOR1AIP1):c.1705C>A (p.Leu569Met) rs2148484421
NM_015602.4(TOR1AIP1):c.1721_1722insT (p.Glu574fs)
NM_015602.4(TOR1AIP1):c.173G>A (p.Arg58Lys) rs1647752093
NM_015602.4(TOR1AIP1):c.1750T>A (p.Ter584Lys) rs1649088273
NM_015602.4(TOR1AIP1):c.177C>A (p.Phe59Leu) rs1553240735
NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp)
NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys)
NM_015602.4(TOR1AIP1):c.188C>T (p.Pro63Leu) rs148576898
NM_015602.4(TOR1AIP1):c.197T>A (p.Val66Glu) rs759389044
NM_015602.4(TOR1AIP1):c.20G>A (p.Arg7Gln) rs1647735292
NM_015602.4(TOR1AIP1):c.230A>G (p.Glu77Gly) rs1279097987
NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn)
NM_015602.4(TOR1AIP1):c.251G>T (p.Arg84Leu)
NM_015602.4(TOR1AIP1):c.25G>A (p.Glu9Lys) rs1647735595
NM_015602.4(TOR1AIP1):c.262G>C (p.Glu88Gln) rs1571719035
NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp)
NM_015602.4(TOR1AIP1):c.268T>A (p.Phe90Ile) rs1331015462
NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp)
NM_015602.4(TOR1AIP1):c.283G>A (p.Ala95Thr) rs751742803
NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly)
NM_015602.4(TOR1AIP1):c.296T>C (p.Val99Ala) rs1571719094
NM_015602.4(TOR1AIP1):c.29C>A (p.Ala10Glu) rs1304415641
NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly)
NM_015602.4(TOR1AIP1):c.323C>T (p.Ser108Phe) rs1347375251
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
NM_015602.4(TOR1AIP1):c.338A>C (p.Gln113Pro) rs2148468796
NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His)
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp)
NM_015602.4(TOR1AIP1):c.372_383del (p.Arg126_Arg129del) rs1647770427
NM_015602.4(TOR1AIP1):c.383C>T (p.Thr128Ile) rs1647773232
NM_015602.4(TOR1AIP1):c.38A>T (p.Glu13Val) rs768829514
NM_015602.4(TOR1AIP1):c.413C>T (p.Pro138Leu) rs1374010658
NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg)
NM_015602.4(TOR1AIP1):c.425C>T (p.Pro142Leu) rs199709287
NM_015602.4(TOR1AIP1):c.444G>T (p.Arg148Ser)
NM_015602.4(TOR1AIP1):c.455G>T (p.Arg152Leu) rs773422033
NM_015602.4(TOR1AIP1):c.460T>A (p.Ser154Thr) rs771016825
NM_015602.4(TOR1AIP1):c.485C>T (p.Ala162Val)
NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr)
NM_015602.4(TOR1AIP1):c.507C>A (p.Ser169Arg)
NM_015602.4(TOR1AIP1):c.514A>G (p.Ile172Val) rs1571720874
NM_015602.4(TOR1AIP1):c.518C>T (p.Ser173Leu) rs2148469972
NM_015602.4(TOR1AIP1):c.527C>G (p.Thr176Ser)
NM_015602.4(TOR1AIP1):c.529G>A (p.Val177Ile) rs776120444
NM_015602.4(TOR1AIP1):c.548C>G (p.Ala183Gly) rs1647864922
NM_015602.4(TOR1AIP1):c.56T>A (p.Val19Asp) rs1189600415
NM_015602.4(TOR1AIP1):c.584G>A (p.Arg195Gln)
NM_015602.4(TOR1AIP1):c.592C>A (p.Leu198Ile) rs1647995889
NM_015602.4(TOR1AIP1):c.610+3A>G rs1647996916
NM_015602.4(TOR1AIP1):c.62C>T (p.Pro21Leu) rs774997818
NM_015602.4(TOR1AIP1):c.64A>G (p.Arg22Gly) rs1647739818
NM_015602.4(TOR1AIP1):c.652+18A>G
NM_015602.4(TOR1AIP1):c.653G>C (p.Gly218Ala)
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
NM_015602.4(TOR1AIP1):c.663AGA[1] (p.Glu222del) rs758018677
NM_015602.4(TOR1AIP1):c.666A>T (p.Glu222Asp)
NM_015602.4(TOR1AIP1):c.676G>C (p.Asp226His) rs2148477008
NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp)
NM_015602.4(TOR1AIP1):c.700A>G (p.Thr234Ala) rs2148477026
NM_015602.4(TOR1AIP1):c.701C>T (p.Thr234Ile)
NM_015602.4(TOR1AIP1):c.71C>G (p.Pro24Arg) rs1553240696
NM_015602.4(TOR1AIP1):c.751A>G (p.Arg251Gly)
NM_015602.4(TOR1AIP1):c.769A>G (p.Ile257Val) rs775100134
NM_015602.4(TOR1AIP1):c.770T>C (p.Ile257Thr)
NM_015602.4(TOR1AIP1):c.791C>T (p.Ser264Leu) rs1648545614
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp)
NM_015602.4(TOR1AIP1):c.826_827delinsTG (p.Pro276Cys) rs2148480005
NM_015602.4(TOR1AIP1):c.827_828delinsGC (p.Pro276Arg) rs1648699740
NM_015602.4(TOR1AIP1):c.852A>C (p.Gln284His) rs775959429
NM_015602.4(TOR1AIP1):c.855A>C (p.Lys285Asn) rs1558045449
NM_015602.4(TOR1AIP1):c.895A>G (p.Thr299Ala)
NM_015602.4(TOR1AIP1):c.907+6T>G rs1648731719
NM_015602.4(TOR1AIP1):c.931C>G (p.Leu311Val) rs2148482585
NM_015602.4(TOR1AIP1):c.938A>G (p.Asn313Ser) rs1571738635
NM_015602.4(TOR1AIP1):c.952dup (p.Thr318fs) rs1571738652
NM_015602.4(TOR1AIP1):c.964+1G>C
NM_015602.4(TOR1AIP1):c.964C>T (p.Gln322Ter)
NM_015713.4(RRM2B):c.-193G>C rs1325086159
NM_015713.5(RRM2B):c.*1337G>C rs962002084
NM_015713.5(RRM2B):c.*1451A>C rs11575864
NM_015713.5(RRM2B):c.*1552T>C rs1051017101
NM_015713.5(RRM2B):c.*1717T>A rs886062566
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*247G>A rs886062568
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*2513T>C rs866323859
NM_015713.5(RRM2B):c.*2728G>A rs1810526776
NM_015713.5(RRM2B):c.*2809G>A rs886062562
NM_015713.5(RRM2B):c.*2991C>T rs972415772
NM_015713.5(RRM2B):c.*2995A>T rs1810522232
NM_015713.5(RRM2B):c.*3250G>C rs1279038036
NM_015713.5(RRM2B):c.*3473A>G rs1810512728
NM_015713.5(RRM2B):c.*3577G>T rs779768316
NM_015713.5(RRM2B):c.*436A>G rs1810567744
NM_015713.5(RRM2B):c.*485A>C rs531379490
NM_015713.5(RRM2B):c.*73A>T rs886062570
NM_015713.5(RRM2B):c.*74del rs886062569
NM_015713.5(RRM2B):c.*855C>G rs886062567
NM_015713.5(RRM2B):c.*895G>A rs1810559850
NM_015713.5(RRM2B):c.-2C>T rs762851256
NM_015713.5(RRM2B):c.1029C>A (p.Asn343Lys)
NM_015713.5(RRM2B):c.143A>G (p.Gln48Arg) rs747846279
NM_015713.5(RRM2B):c.19C>T (p.Pro7Ser)
NM_015713.5(RRM2B):c.20C>T (p.Pro7Leu)
NM_015713.5(RRM2B):c.258G>T (p.Lys86Asn) rs536874925
NM_015713.5(RRM2B):c.320T>C (p.Leu107Ser)
NM_015713.5(RRM2B):c.32G>A (p.Gly11Glu)
NM_015713.5(RRM2B):c.461T>G (p.Phe154Cys)
NM_015713.5(RRM2B):c.463_468del (p.Leu155_Phe156del)
NM_015713.5(RRM2B):c.48+83T>C
NM_015713.5(RRM2B):c.482C>T (p.Thr161Ile)
NM_015713.5(RRM2B):c.488C>T (p.Pro163Leu)
NM_015713.5(RRM2B):c.514G>A (p.Ala172Thr) rs753891041
NM_015713.5(RRM2B):c.581_583del (p.Glu194del)
NM_015713.5(RRM2B):c.602C>T (p.Ser201Phe)
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_015713.5(RRM2B):c.760A>G (p.Ile254Val)
NM_015713.5(RRM2B):c.834T>G (p.Asn278Lys)
NM_015713.5(RRM2B):c.910C>G (p.Gln304Glu)
NM_015713.5(RRM2B):c.98C>A (p.Pro33Gln)
NM_016013.4(NDUFAF1):c.-180C>T rs886051145
NM_016013.4(NDUFAF1):c.-192T>C rs948869374
NM_016013.4(NDUFAF1):c.-242G>C rs762867624
NM_016013.4(NDUFAF1):c.-312T>G rs886051146
NM_016013.4(NDUFAF1):c.536G>A (p.Arg179Gln) rs576430165
NM_016013.4(NDUFAF1):c.538A>G (p.Ser180Gly) rs886051143
NM_016013.4(NDUFAF1):c.61A>T (p.Thr21Ser) rs148982578
NM_016013.4(NDUFAF1):c.643G>A (p.Asp215Asn) rs866015009
NM_016013.4(NDUFAF1):c.721A>G (p.Met241Val) rs769371844
NM_016474.5(CCDC174):c.1089G>T (p.Glu363Asp)
NM_016474.5(CCDC174):c.521G>T (p.Arg174Leu) rs138052160
NM_017534.6(MYH2):c.-10T>C rs886052574
NM_017534.6(MYH2):c.-64+13A>G rs886052576
NM_017534.6(MYH2):c.1008+4A>C
NM_017534.6(MYH2):c.1024T>G (p.Leu342Val) rs753710050
NM_017534.6(MYH2):c.1072G>T (p.Ala358Ser)
NM_017534.6(MYH2):c.1078A>T (p.Met360Leu) rs201434968
NM_017534.6(MYH2):c.1081C>A (p.His361Asn) rs752699239
NM_017534.6(MYH2):c.1114C>T (p.Arg372Cys)
NM_017534.6(MYH2):c.1195C>T (p.Leu399Phe)
NM_017534.6(MYH2):c.123G>A (p.Ala41=)
NM_017534.6(MYH2):c.1241T>C (p.Val414Ala) rs2073524537
NM_017534.6(MYH2):c.1266+5G>C rs758217131
NM_017534.6(MYH2):c.1275C>G (p.Asn425Lys) rs151000841
NM_017534.6(MYH2):c.1279G>C (p.Val427Leu)
NM_017534.6(MYH2):c.1297G>C (p.Ala433Pro)
NM_017534.6(MYH2):c.1311G>C (p.Lys437Asn) rs2142313163
NM_017534.6(MYH2):c.1316_1321del (p.Phe439_Leu440del) rs2073521807
NM_017534.6(MYH2):c.132A>C (p.Lys44Asn) rs2073654641
NM_017534.6(MYH2):c.1334G>T (p.Arg445Leu) rs201040489
NM_017534.6(MYH2):c.1358A>G (p.Lys453Arg) rs1555571482
NM_017534.6(MYH2):c.135A>T (p.Glu45Asp)
NM_017534.6(MYH2):c.1360C>A (p.Gln454Lys)
NM_017534.6(MYH2):c.1360C>G (p.Gln454Glu)
NM_017534.6(MYH2):c.137C>A (p.Ser46Tyr)
NM_017534.6(MYH2):c.1385T>C (p.Val462Ala) rs2142313049
NM_017534.6(MYH2):c.1391A>G (p.Asp464Gly)
NM_017534.6(MYH2):c.1395T>C (p.Ile465=)
NM_017534.6(MYH2):c.139T>C (p.Phe47Leu)
NM_017534.6(MYH2):c.1410T>G (p.Ile470Met)
NM_017534.6(MYH2):c.1416+3G>C rs1242041194
NM_017534.6(MYH2):c.1441A>G (p.Ile481Val) rs2142311275
NM_017534.6(MYH2):c.1444A>C (p.Asn482His) rs886052570
NM_017534.6(MYH2):c.1444A>T (p.Asn482Tyr) rs886052570
NM_017534.6(MYH2):c.1454A>G (p.Asn485Ser)
NM_017534.6(MYH2):c.1477A>C (p.Asn493His)
NM_017534.6(MYH2):c.1493T>C (p.Val498Ala) rs1567733956
NM_017534.6(MYH2):c.1504GAG[1] (p.Glu503del)
NM_017534.6(MYH2):c.1507G>C (p.Glu503Gln) rs865974946
NM_017534.6(MYH2):c.1516A>G (p.Lys506Glu)
NM_017534.6(MYH2):c.1518G>T (p.Lys506Asn)
NM_017534.6(MYH2):c.1526T>A (p.Ile509Asn)
NM_017534.6(MYH2):c.1528G>C (p.Glu510Gln) rs772963819
NM_017534.6(MYH2):c.1538T>G (p.Phe513Cys)
NM_017534.6(MYH2):c.1549G>A (p.Gly517Arg)
NM_017534.6(MYH2):c.1562C>T (p.Ala521Val)
NM_017534.6(MYH2):c.1565C>T (p.Ala522Val)
NM_017534.6(MYH2):c.1573G>A (p.Glu525Lys) rs2142311074
NM_017534.6(MYH2):c.1588-3T>C
NM_017534.6(MYH2):c.1595G>A (p.Gly532Asp)
NM_017534.6(MYH2):c.1615GAG[3] (p.Glu540_Cys541insGlu)
NM_017534.6(MYH2):c.1622G>A (p.Cys541Tyr)
NM_017534.6(MYH2):c.1624A>G (p.Met542Val)
NM_017534.6(MYH2):c.1640C>T (p.Thr547Ile)
NM_017534.6(MYH2):c.1644C>A (p.Asp548Glu) rs886052569
NM_017534.6(MYH2):c.1646C>A (p.Thr549Asn) rs1160867842
NM_017534.6(MYH2):c.1646CCT[3] (p.Ser550dup) rs2073495820
NM_017534.6(MYH2):c.1673A>T (p.Gln558Leu) rs2073495432
NM_017534.6(MYH2):c.1691C>A (p.Ala564Asp)
NM_017534.6(MYH2):c.1695C>A (p.Asn565Lys) rs771444036
NM_017534.6(MYH2):c.1700A>C (p.Gln567Pro)
NM_017534.6(MYH2):c.1705C>T (p.Pro569Ser) rs1567733741
NM_017534.6(MYH2):c.1714G>A (p.Val572Ile)
NM_017534.6(MYH2):c.1720G>C (p.Gly574Arg)
NM_017534.6(MYH2):c.1737C>G (p.His579Gln) rs2073494382
NM_017534.6(MYH2):c.1750C>A (p.His584Asn)
NM_017534.6(MYH2):c.1758T>A (p.Ala586=) rs2073493923
NM_017534.6(MYH2):c.1776C>G (p.Asn592Lys) rs763994556
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017534.6(MYH2):c.1796A>G (p.Lys599Arg)
NM_017534.6(MYH2):c.1815T>A (p.Asn605Lys)
NM_017534.6(MYH2):c.1822G>A (p.Val608Met)
NM_017534.6(MYH2):c.1825G>A (p.Val609Ile)
NM_017534.6(MYH2):c.1847C>G (p.Ala616Gly)
NM_017534.6(MYH2):c.184G>C (p.Val62Leu)
NM_017534.6(MYH2):c.1859T>C (p.Leu620Pro)
NM_017534.6(MYH2):c.1898-6C>T
NM_017534.6(MYH2):c.18A>T (p.Glu6Asp)
NM_017534.6(MYH2):c.1901G>C (p.Gly634Ala) rs770538729
NM_017534.6(MYH2):c.1901_1902inv (p.Gly634Val)
NM_017534.6(MYH2):c.1913G>A (p.Gly638Glu) rs2073484495
NM_017534.6(MYH2):c.1924G>A (p.Gly642Ser)
NM_017534.6(MYH2):c.1930AAG[2] (p.Lys646del) rs2142309594
NM_017534.6(MYH2):c.1986C>A (p.Asn662Lys)
NM_017534.6(MYH2):c.2000A>G (p.Asn667Ser) rs750604697
NM_017534.6(MYH2):c.2020C>T (p.His674Tyr) rs1555571125
NM_017534.6(MYH2):c.204+4A>G
NM_017534.6(MYH2):c.2044A>C (p.Asn682His)
NM_017534.6(MYH2):c.204G>A (p.Ala68=)
NM_017534.6(MYH2):c.2059C>T (p.Pro687Ser) rs2073469870
NM_017534.6(MYH2):c.2061T>C (p.Pro687=) rs2073469824
NM_017534.6(MYH2):c.2063-9C>G
NM_017534.6(MYH2):c.2066C>T (p.Ala689Val)
NM_017534.6(MYH2):c.2074C>T (p.His692Tyr)
NM_017534.6(MYH2):c.2102G>T (p.Cys701Phe) rs1259249860
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser) rs2142307936
NM_017534.6(MYH2):c.2125C>G (p.Arg709Gly)
NM_017534.6(MYH2):c.2125C>T (p.Arg709Cys) rs761461325
NM_017534.6(MYH2):c.2126G>A (p.Arg709His) rs369618095
NM_017534.6(MYH2):c.2153G>T (p.Arg718Ile) rs2073467818
NM_017534.6(MYH2):c.2176C>G (p.Gln726Glu)
NM_017534.6(MYH2):c.2181-9C>T rs886052568
NM_017534.6(MYH2):c.2197G>A (p.Ala733Thr)
NM_017534.6(MYH2):c.2210C>A (p.Pro737His)
NM_017534.6(MYH2):c.2242T>G (p.Ser748Ala)
NM_017534.6(MYH2):c.2264T>C (p.Ile755Thr) rs1167250510
NM_017534.6(MYH2):c.2305-3C>T
NM_017534.6(MYH2):c.2331G>A (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2331G>T (p.Gly777=) rs886052567
NM_017534.6(MYH2):c.2343G>C (p.Glu781Asp)
NM_017534.6(MYH2):c.2346G>A (p.Met782Ile) rs2142305497
NM_017534.6(MYH2):c.2352T>A (p.Asp784Glu)
NM_017534.6(MYH2):c.2355C>A (p.Asp785Glu) rs1392938142
NM_017534.6(MYH2):c.2383C>A (p.Gln795Lys)
NM_017534.6(MYH2):c.2393G>A (p.Cys798Tyr)
NM_017534.6(MYH2):c.2396G>A (p.Arg799Lys)
NM_017534.6(MYH2):c.2396G>C (p.Arg799Thr) rs754150715
NM_017534.6(MYH2):c.2398G>C (p.Gly800Arg)
NM_017534.6(MYH2):c.2399G>C (p.Gly800Ala) rs1270329583
NM_017534.6(MYH2):c.2422C>G (p.Gln808Glu)
NM_017534.6(MYH2):c.2435A>G (p.Glu812Gly) rs1597452607
NM_017534.6(MYH2):c.2441+4T>A
NM_017534.6(MYH2):c.2442-12A>G
NM_017534.6(MYH2):c.2459_2467dup (p.Ile820_Tyr822dup) rs2073428547
NM_017534.6(MYH2):c.2467A>G (p.Asn823Asp) rs2073428486
NM_017534.6(MYH2):c.2471T>C (p.Ile824Thr)
NM_017534.6(MYH2):c.2475A>T (p.Arg825Ser)
NM_017534.6(MYH2):c.2477C>A (p.Ser826Tyr)
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017534.6(MYH2):c.2488G>A (p.Val830Ile)
NM_017534.6(MYH2):c.2500C>A (p.Pro834Thr)
NM_017534.6(MYH2):c.2501C>T (p.Pro834Leu) rs915946647
NM_017534.6(MYH2):c.2518T>C (p.Phe840Leu) rs1242325182
NM_017534.6(MYH2):c.2529G>C (p.Lys843Asn) rs2142303448
NM_017534.6(MYH2):c.2530C>A (p.Pro844Thr) rs1328752239
NM_017534.6(MYH2):c.2536T>G (p.Leu846Val)
NM_017534.6(MYH2):c.2542A>C (p.Ser848Arg)
NM_017534.6(MYH2):c.254A>G (p.Tyr85Cys)
NM_017534.6(MYH2):c.2560G>C (p.Glu854Gln)
NM_017534.6(MYH2):c.2564T>A (p.Met855Lys)
NM_017534.6(MYH2):c.256G>A (p.Asp86Asn) rs1567738501
NM_017534.6(MYH2):c.2609C>T (p.Ala870Val) rs1567731278
NM_017534.6(MYH2):c.2620G>T (p.Ala874Ser)
NM_017534.6(MYH2):c.2634A>C (p.Glu878Asp) rs757290160
NM_017534.6(MYH2):c.2642A>G (p.Glu881Gly)
NM_017534.6(MYH2):c.2649G>A (p.Met883Ile)
NM_017534.6(MYH2):c.2666A>G (p.Glu889Gly)
NM_017534.6(MYH2):c.2669A>T (p.Lys890Ile)
NM_017534.6(MYH2):c.2674G>A (p.Asp892Asn)
NM_017534.6(MYH2):c.2692C>G (p.Gln898Glu)
NM_017534.6(MYH2):c.2698-3A>G
NM_017534.6(MYH2):c.2698G>A (p.Glu900Lys)
NM_017534.6(MYH2):c.2705A>G (p.Glu902Gly) rs2142301095
NM_017534.6(MYH2):c.2720C>G (p.Ala907Gly)
NM_017534.6(MYH2):c.2729G>T (p.Arg910Met) rs2073406829
NM_017534.6(MYH2):c.2750C>T (p.Thr917Ile)
NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)
NM_017534.6(MYH2):c.2775C>G (p.Ile925Met)
NM_017534.6(MYH2):c.277A>G (p.Met93Val)
NM_017534.6(MYH2):c.2785A>T (p.Thr929Ser) rs1555570593
NM_017534.6(MYH2):c.2790G>C (p.Glu930Asp)
NM_017534.6(MYH2):c.2797G>A (p.Glu933Lys)
NM_017534.6(MYH2):c.2801A>G (p.Asp934Gly)
NM_017534.6(MYH2):c.2801A>T (p.Asp934Val)
NM_017534.6(MYH2):c.2831C>A (p.Ala944Asp) rs2142300910
NM_017534.6(MYH2):c.2833A>C (p.Lys945Gln)
NM_017534.6(MYH2):c.2840G>A (p.Arg947Lys) rs762535527
NM_017534.6(MYH2):c.2851G>A (p.Asp951Asn)
NM_017534.6(MYH2):c.2893C>T (p.Leu965=) rs886052566
NM_017534.6(MYH2):c.2909T>C (p.Val970Ala)
NM_017534.6(MYH2):c.2923C>T (p.His975Tyr) rs754311300
NM_017534.6(MYH2):c.2948A>G (p.Asn983Ser) rs2073401948
NM_017534.6(MYH2):c.2969G>T (p.Gly990Val) rs1597451166
NM_017534.6(MYH2):c.298C>A (p.Pro100Thr)
NM_017534.6(MYH2):c.298C>G (p.Pro100Ala)
NM_017534.6(MYH2):c.298C>T (p.Pro100Ser)
NM_017534.6(MYH2):c.2999A>C (p.Lys1000Thr) rs912210806
NM_017534.6(MYH2):c.3005A>G (p.Lys1002Arg) rs1324293373
NM_017534.6(MYH2):c.3011C>A (p.Ala1004Asp)
NM_017534.6(MYH2):c.3018G>C (p.Gln1006His)
NM_017534.6(MYH2):c.301G>C (p.Ala101Pro) rs886052573
NM_017534.6(MYH2):c.3026A>G (p.His1009Arg)
NM_017534.6(MYH2):c.3037C>A (p.Leu1013Met)
NM_017534.6(MYH2):c.3041A>G (p.Asp1014Gly)
NM_017534.6(MYH2):c.3068T>A (p.Val1023Asp)
NM_017534.6(MYH2):c.3074C>A (p.Thr1025Asn)
NM_017534.6(MYH2):c.3103CAA[1] (p.Gln1036del)
NM_017534.6(MYH2):c.3117T>C (p.Asp1039=) rs1158331976
NM_017534.6(MYH2):c.311A>G (p.Tyr104Cys)
NM_017534.6(MYH2):c.3136C>G (p.Gln1046Glu)
NM_017534.6(MYH2):c.3140A>G (p.Glu1047Gly) rs2073397644
NM_017534.6(MYH2):c.3154A>G (p.Met1052Val)
NM_017534.6(MYH2):c.3155T>C (p.Met1052Thr)
NM_017534.6(MYH2):c.3156G>A (p.Met1052Ile)
NM_017534.6(MYH2):c.3163G>A (p.Glu1055Lys)
NM_017534.6(MYH2):c.3169G>A (p.Ala1057Thr)
NM_017534.6(MYH2):c.3174G>C (p.Lys1058Asn)
NM_017534.6(MYH2):c.3187G>T (p.Gly1063Cys)
NM_017534.6(MYH2):c.3188G>T (p.Gly1063Val)
NM_017534.6(MYH2):c.3203C>T (p.Ala1068Val) rs2073396657
NM_017534.6(MYH2):c.3212C>T (p.Ser1071Phe) rs2142299853
NM_017534.6(MYH2):c.3218T>C (p.Met1073Thr) rs1335497096
NM_017534.6(MYH2):c.3223A>C (p.Ile1075Leu)
NM_017534.6(MYH2):c.322G>A (p.Glu108Lys) rs1597459444
NM_017534.6(MYH2):c.3232G>A (p.Glu1078Lys)
NM_017534.6(MYH2):c.3250G>A (p.Glu1084Lys) rs2142299795
NM_017534.6(MYH2):c.3256C>G (p.Leu1086Val)
NM_017534.6(MYH2):c.3269A>G (p.Glu1090Gly)
NM_017534.6(MYH2):c.3283A>C (p.Asn1095His)
NM_017534.6(MYH2):c.3289C>A (p.Gln1097Lys) rs2073393915
NM_017534.6(MYH2):c.3312G>A (p.Gln1104=) rs1257247271
NM_017534.6(MYH2):c.3323T>C (p.Ile1108Thr)
NM_017534.6(MYH2):c.3331C>A (p.Gln1111Lys)
NM_017534.6(MYH2):c.3353A>C (p.Gln1118Pro) rs575266045
NM_017534.6(MYH2):c.3354+5G>A
NM_017534.6(MYH2):c.3359G>A (p.Arg1120His)
NM_017534.6(MYH2):c.3364G>A (p.Glu1122Lys)
NM_017534.6(MYH2):c.3369G>C (p.Glu1123Asp) rs2073391277
NM_017534.6(MYH2):c.3386A>T (p.Glu1129Val)
NM_017534.6(MYH2):c.3394C>T (p.Arg1132Trp)
NM_017534.6(MYH2):c.3404G>A (p.Arg1135Gln)
NM_017534.6(MYH2):c.3448G>A (p.Glu1150Lys)
NM_017534.6(MYH2):c.3448GAG[1] (p.Glu1151del)
NM_017534.6(MYH2):c.3468G>A (p.Leu1156=) rs2073389597
NM_017534.6(MYH2):c.3475G>T (p.Ala1159Ser)
NM_017534.6(MYH2):c.3478G>A (p.Gly1160Ser)
NM_017534.6(MYH2):c.349-3T>C
NM_017534.6(MYH2):c.3498G>T (p.Gln1166His) rs2073388994
NM_017534.6(MYH2):c.3499A>T (p.Ile1167Phe)
NM_017534.6(MYH2):c.3500T>C (p.Ile1167Thr)
NM_017534.6(MYH2):c.3517C>A (p.Arg1173=) rs767243766
NM_017534.6(MYH2):c.3517C>T (p.Arg1173Trp)
NM_017534.6(MYH2):c.3536A>G (p.Lys1179Arg)
NM_017534.6(MYH2):c.3563C>A (p.Thr1188Asn) rs2073387879
NM_017534.6(MYH2):c.3584C>A (p.Ala1195Glu) rs373108053
NM_017534.6(MYH2):c.3587C>G (p.Ala1196Gly) rs2142298788
NM_017534.6(MYH2):c.3614G>A (p.Ser1205Asn)
NM_017534.6(MYH2):c.3635A>G (p.Gln1212Arg) rs1456213666
NM_017534.6(MYH2):c.3640G>A (p.Asp1214Asn) rs1597450495
NM_017534.6(MYH2):c.3665A>G (p.Lys1222Arg)
NM_017534.6(MYH2):c.3695T>C (p.Met1232Thr)
NM_017534.6(MYH2):c.3720T>A (p.Asn1240Lys)
NM_017534.6(MYH2):c.3721G>A (p.Val1241Ile) rs2073384756
NM_017534.6(MYH2):c.3731T>A (p.Val1244Asp)
NM_017534.6(MYH2):c.3740C>G (p.Ala1247Gly) rs2073384604
NM_017534.6(MYH2):c.3748A>G (p.Asn1250Asp) rs1366353041
NM_017534.6(MYH2):c.3764G>A (p.Cys1255Tyr)
NM_017534.6(MYH2):c.3766C>T (p.Arg1256Trp)
NM_017534.6(MYH2):c.3775G>C (p.Glu1259Gln)
NM_017534.6(MYH2):c.3777G>A (p.Glu1259=)
NM_017534.6(MYH2):c.380A>G (p.Asn127Ser)
NM_017534.6(MYH2):c.381C>A (p.Asn127Lys)
NM_017534.6(MYH2):c.382C>A (p.Pro128Thr) rs2142321785
NM_017534.6(MYH2):c.3832G>A (p.Asp1278Asn) rs905151466
NM_017534.6(MYH2):c.3848G>C (p.Arg1283Thr)
NM_017534.6(MYH2):c.3848G>T (p.Arg1283Met) rs2073371857
NM_017534.6(MYH2):c.3851G>C (p.Gly1284Ala)
NM_017534.6(MYH2):c.3853C>A (p.Arg1285Ser) rs374494789
NM_017534.6(MYH2):c.3853C>T (p.Arg1285Cys)
NM_017534.6(MYH2):c.3869C>T (p.Ser1290Phe)
NM_017534.6(MYH2):c.3871+5C>T
NM_017534.6(MYH2):c.3872G>T (p.Gly1291Val) rs747924610
NM_017534.6(MYH2):c.3892G>A (p.Asp1298Asn) rs1046313955
NM_017534.6(MYH2):c.3904G>C (p.Ala1302Pro)
NM_017534.6(MYH2):c.3934C>G (p.Gln1312Glu)
NM_017534.6(MYH2):c.3937G>A (p.Ala1313Thr)
NM_017534.6(MYH2):c.3943A>T (p.Thr1315Ser)
NM_017534.6(MYH2):c.3944C>T (p.Thr1315Ile)
NM_017534.6(MYH2):c.3958G>A (p.Glu1320Lys)
NM_017534.6(MYH2):c.3968G>A (p.Arg1323Lys)
NM_017534.6(MYH2):c.3979G>A (p.Glu1327Lys) rs2142295860
NM_017534.6(MYH2):c.3986T>C (p.Ile1329Thr)
NM_017534.6(MYH2):c.3G>A (p.Met1Ile)
NM_017534.6(MYH2):c.3G>C (p.Met1Ile)
NM_017534.6(MYH2):c.4000G>A (p.Ala1334Thr) rs779257410
NM_017534.6(MYH2):c.4000G>T (p.Ala1334Ser) rs779257410
NM_017534.6(MYH2):c.4007C>T (p.Ala1336Val) rs138470281
NM_017534.6(MYH2):c.4010A>G (p.His1337Arg) rs996870471
NM_017534.6(MYH2):c.4021T>A (p.Ser1341Thr) rs554321580
NM_017534.6(MYH2):c.4027C>G (p.Arg1343Gly) rs145911509
NM_017534.6(MYH2):c.4048C>T (p.Arg1350Trp) rs776018379
NM_017534.6(MYH2):c.4055A>C (p.Gln1352Pro)
NM_017534.6(MYH2):c.4072G>A (p.Glu1358Lys)
NM_017534.6(MYH2):c.4079A>G (p.Lys1360Arg)
NM_017534.6(MYH2):c.409C>T (p.Pro137Ser)
NM_017534.6(MYH2):c.4102T>C (p.Ser1368Pro)
NM_017534.6(MYH2):c.4127A>G (p.Gln1376Arg)
NM_017534.6(MYH2):c.4153G>A (p.Ala1385Thr)
NM_017534.6(MYH2):c.4163G>C (p.Arg1388Pro)
NM_017534.6(MYH2):c.4187+15A>G
NM_017534.6(MYH2):c.4187+6T>C rs748256368
NM_017534.6(MYH2):c.4188-11T>G
NM_017534.6(MYH2):c.4188-17C>G
NM_017534.6(MYH2):c.4195C>A (p.Leu1399Met)
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
NM_017534.6(MYH2):c.4222G>A (p.Glu1408Lys) rs780588979
NM_017534.6(MYH2):c.4237G>A (p.Val1413Met)
NM_017534.6(MYH2):c.4242C>A (p.Asn1414Lys) rs146615128
NM_017534.6(MYH2):c.4273C>A (p.Gln1425Lys)
NM_017534.6(MYH2):c.4276C>T (p.Arg1426Trp) rs773071482
NM_017534.6(MYH2):c.4277G>A (p.Arg1426Gln)
NM_017534.6(MYH2):c.4297G>A (p.Asp1433Asn)
NM_017534.6(MYH2):c.4337C>G (p.Ala1446Gly) rs1567728069
NM_017534.6(MYH2):c.4339G>A (p.Ala1447Thr)
NM_017534.6(MYH2):c.4352del (p.Lys1451fs) rs757195322
NM_017534.6(MYH2):c.4360A>G (p.Asn1454Asp)
NM_017534.6(MYH2):c.4372-11del rs2073341840
NM_017534.6(MYH2):c.4372-19A>G
NM_017534.6(MYH2):c.4390C>A (p.Gln1464Lys)
NM_017534.6(MYH2):c.4431G>C (p.Gln1477His)
NM_017534.6(MYH2):c.4439C>T (p.Ala1480Val) rs1303566428
NM_017534.6(MYH2):c.443G>A (p.Arg148His)
NM_017534.6(MYH2):c.445C>G (p.Gln149Glu)
NM_017534.6(MYH2):c.4478C>T (p.Ala1493Val) rs1034624770
NM_017534.6(MYH2):c.4489T>A (p.Ser1497Thr)
NM_017534.6(MYH2):c.4517G>C (p.Arg1506Pro) rs1049022189
NM_017534.6(MYH2):c.4521G>C (p.Glu1507Asp) rs753714787
NM_017534.6(MYH2):c.4523A>G (p.Asn1508Ser) rs764004345
NM_017534.6(MYH2):c.4529A>C (p.Asn1510Thr) rs1165680648
NM_017534.6(MYH2):c.4534C>G (p.Gln1512Glu)
NM_017534.6(MYH2):c.4537+5G>C rs1131691628
NM_017534.6(MYH2):c.4553T>C (p.Leu1518Pro)
NM_017534.6(MYH2):c.4556C>A (p.Thr1519Lys)
NM_017534.6(MYH2):c.455C>T (p.Pro152Leu)
NM_017534.6(MYH2):c.4568C>A (p.Ala1523Glu)
NM_017534.6(MYH2):c.4570G>A (p.Glu1524Lys)
NM_017534.6(MYH2):c.4571_4573del (p.Glu1524del) rs774357063
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp) rs1243834294
NM_017534.6(MYH2):c.4581A>T (p.Lys1527Asn) rs2142293289
NM_017534.6(MYH2):c.4585A>G (p.Ile1529Val) rs2073336915
NM_017534.6(MYH2):c.4603A>G (p.Ile1535Val) rs2073336612
NM_017534.6(MYH2):c.4616T>G (p.Val1539Gly) rs2142293220
NM_017534.6(MYH2):c.4629G>C (p.Lys1543Asn) rs776862337
NM_017534.6(MYH2):c.4642G>C (p.Ala1548Pro) rs947669039
NM_017534.6(MYH2):c.4642G>T (p.Ala1548Ser)
NM_017534.6(MYH2):c.4662G>A (p.Glu1554=)
NM_017534.6(MYH2):c.4663G>C (p.Ala1555Pro)
NM_017534.6(MYH2):c.4667C>G (p.Ser1556Cys)
NM_017534.6(MYH2):c.4675C>T (p.His1559Tyr) rs1597448095
NM_017534.6(MYH2):c.4684G>A (p.Gly1562Arg) rs1555569889
NM_017534.6(MYH2):c.4691T>C (p.Ile1564Thr) rs2073333613
NM_017534.6(MYH2):c.469T>G (p.Ser157Ala)
NM_017534.6(MYH2):c.470C>T (p.Ser157Phe)
NM_017534.6(MYH2):c.472A>C (p.Ile158Leu)
NM_017534.6(MYH2):c.4733T>C (p.Val1578Ala)
NM_017534.6(MYH2):c.4737T>A (p.Asp1579Glu)
NM_017534.6(MYH2):c.4739G>C (p.Arg1580Thr) rs2142292793
NM_017534.6(MYH2):c.4745T>C (p.Ile1582Thr)
NM_017534.6(MYH2):c.4795A>G (p.Ile1599Val)
NM_017534.6(MYH2):c.4829A>T (p.Glu1610Val) rs2142292645
NM_017534.6(MYH2):c.484G>A (p.Ala162Thr)
NM_017534.6(MYH2):c.4875G>C (p.Glu1625Asp)
NM_017534.6(MYH2):c.4876G>A (p.Gly1626Arg)
NM_017534.6(MYH2):c.4882C>A (p.Leu1628Ile)
NM_017534.6(MYH2):c.4882C>T (p.Leu1628Phe) rs2142292545
NM_017534.6(MYH2):c.4886A>G (p.Asn1629Ser)
NM_017534.6(MYH2):c.4893G>C (p.Met1631Ile)
NM_017534.6(MYH2):c.4916A>T (p.Asn1639Ile)
NM_017534.6(MYH2):c.4937T>C (p.Leu1646Pro)
NM_017534.6(MYH2):c.4944C>A (p.Asn1648Lys)
NM_017534.6(MYH2):c.4953C>G (p.Asn1651Lys)
NM_017534.6(MYH2):c.495C>A (p.Phe165Leu) rs886052572
NM_017534.6(MYH2):c.4971+6T>C
NM_017534.6(MYH2):c.4973A>G (p.Asp1658Gly)
NM_017534.6(MYH2):c.4976C>T (p.Thr1659Ile)
NM_017534.6(MYH2):c.4981A>C (p.Ile1661Leu)
NM_017534.6(MYH2):c.4997C>G (p.Ala1666Gly) rs773964603
NM_017534.6(MYH2):c.4997C>T (p.Ala1666Val)
NM_017534.6(MYH2):c.5014G>A (p.Asp1672Asn) rs1204274669
NM_017534.6(MYH2):c.5026C>G (p.Gln1676Glu)
NM_017534.6(MYH2):c.5033C>T (p.Ala1678Val)
NM_017534.6(MYH2):c.5035A>G (p.Met1679Val)
NM_017534.6(MYH2):c.5044C>T (p.Arg1682Cys)
NM_017534.6(MYH2):c.5053A>G (p.Asn1685Asp)
NM_017534.6(MYH2):c.5072T>C (p.Ile1691Thr) rs2073324867
NM_017534.6(MYH2):c.5074G>A (p.Glu1692Lys)
NM_017534.6(MYH2):c.5084G>A (p.Arg1695Gln)
NM_017534.6(MYH2):c.5106G>C (p.Glu1702Asp)
NM_017534.6(MYH2):c.5113A>G (p.Arg1705Gly)
NM_017534.6(MYH2):c.5122G>A (p.Ala1708Thr) rs147813930
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg) rs2142291882
NM_017534.6(MYH2):c.5138T>C (p.Leu1713Pro)
NM_017534.6(MYH2):c.5152C>A (p.Arg1718Ser) rs1161860650
NM_017534.6(MYH2):c.5152C>T (p.Arg1718Cys)
NM_017534.6(MYH2):c.5155G>A (p.Val1719Ile)
NM_017534.6(MYH2):c.5171C>G (p.Thr1724Ser) rs202050465
NM_017534.6(MYH2):c.5173C>G (p.Gln1725Glu) rs2073322886
NM_017534.6(MYH2):c.5176-10T>C rs886052563
NM_017534.6(MYH2):c.5176-12C>A rs1270961978
NM_017534.6(MYH2):c.5176-15A>G
NM_017534.6(MYH2):c.5176-4A>G rs879251009
NM_017534.6(MYH2):c.5180C>G (p.Thr1727Ser) rs750223323
NM_017534.6(MYH2):c.5180C>T (p.Thr1727Ile) rs750223323
NM_017534.6(MYH2):c.5183G>A (p.Ser1728Asn)
NM_017534.6(MYH2):c.5185C>G (p.Leu1729Val)
NM_017534.6(MYH2):c.5221T>C (p.Ser1741Pro)
NM_017534.6(MYH2):c.5224C>G (p.Gln1742Glu)
NM_017534.6(MYH2):c.5231A>C (p.Gln1744Pro)
NM_017534.6(MYH2):c.5231A>G (p.Gln1744Arg) rs1050104425
NM_017534.6(MYH2):c.5238G>C (p.Glu1746Asp)
NM_017534.6(MYH2):c.523A>G (p.Ile175Val)
NM_017534.6(MYH2):c.5241G>A (p.Met1747Ile)
NM_017534.6(MYH2):c.5260G>T (p.Ala1754Ser) rs2073314725
NM_017534.6(MYH2):c.5284AAG[1] (p.Lys1763del)
NM_017534.6(MYH2):c.5301+9C>T
NM_017534.6(MYH2):c.5301T>C (p.Asp1767=) rs2073313827
NM_017534.6(MYH2):c.5311A>G (p.Met1771Val) rs2073312358
NM_017534.6(MYH2):c.5317G>A (p.Glu1773Lys)
NM_017534.6(MYH2):c.5317G>C (p.Glu1773Gln)
NM_017534.6(MYH2):c.5359C>T (p.Arg1787Trp)
NM_017534.6(MYH2):c.5363T>C (p.Met1788Thr)
NM_017534.6(MYH2):c.5371_5391del (p.Asn1791_Lys1797del) rs2142290581
NM_017534.6(MYH2):c.5374A>G (p.Met1792Val)
NM_017534.6(MYH2):c.5382G>C (p.Gln1794His) rs1567726803
NM_017534.6(MYH2):c.5405G>T (p.Arg1802Leu)
NM_017534.6(MYH2):c.5414A>C (p.Glu1805Ala)
NM_017534.6(MYH2):c.541T>C (p.Ser181Pro) rs2073593497
NM_017534.6(MYH2):c.5429C>T (p.Ala1810Val)
NM_017534.6(MYH2):c.542C>A (p.Ser181Tyr)
NM_017534.6(MYH2):c.5446A>G (p.Lys1816Glu)
NM_017534.6(MYH2):c.5449C>G (p.Gln1817Glu)
NM_017534.6(MYH2):c.545G>A (p.Gly182Asp)
NM_017534.6(MYH2):c.5462T>C (p.Leu1821Pro) rs2073310003
NM_017534.6(MYH2):c.5466G>T (p.Glu1822Asp)
NM_017534.6(MYH2):c.5472+4G>T
NM_017534.6(MYH2):c.5482C>A (p.Leu1828Met)
NM_017534.6(MYH2):c.5487A>C (p.Glu1829Asp)
NM_017534.6(MYH2):c.5494G>A (p.Val1832Ile) rs1462537897
NM_017534.6(MYH2):c.5511G>C (p.Lys1837Asn)
NM_017534.6(MYH2):c.5513G>A (p.Arg1838His)
NM_017534.6(MYH2):c.5518G>A (p.Ala1840Thr) rs2073307748
NM_017534.6(MYH2):c.5518G>C (p.Ala1840Pro)
NM_017534.6(MYH2):c.5525C>A (p.Ala1842Asp)
NM_017534.6(MYH2):c.5527G>C (p.Val1843Leu)
NM_017534.6(MYH2):c.5555G>A (p.Arg1852Gln)
NM_017534.6(MYH2):c.5555G>T (p.Arg1852Leu) rs769778269
NM_017534.6(MYH2):c.5566C>G (p.Leu1856Val)
NM_017534.6(MYH2):c.5569A>G (p.Thr1857Ala)
NM_017534.6(MYH2):c.5577+3A>G
NM_017534.6(MYH2):c.5577+5A>G
NM_017534.6(MYH2):c.5579C>G (p.Thr1860Arg) rs148724880
NM_017534.6(MYH2):c.5579C>T (p.Thr1860Met)
NM_017534.6(MYH2):c.5584G>C (p.Glu1862Gln)
NM_017534.6(MYH2):c.5597A>G (p.Asn1866Ser)
NM_017534.6(MYH2):c.559G>A (p.Val187Met)
NM_017534.6(MYH2):c.5612A>G (p.Gln1871Arg)
NM_017534.6(MYH2):c.5616T>C (p.Asp1872=) rs2073304426
NM_017534.6(MYH2):c.5617_5625del (p.Leu1873_Asp1875del)
NM_017534.6(MYH2):c.5633A>G (p.Gln1878Arg)
NM_017534.6(MYH2):c.5647T>C (p.Ser1883Pro) rs746016363
NM_017534.6(MYH2):c.5652_5656del (p.Tyr1884_Arg1886delinsTer)
NM_017534.6(MYH2):c.5653A>G (p.Lys1885Glu)
NM_017534.6(MYH2):c.5664_5668dup (p.Glu1890fs)
NM_017534.6(MYH2):c.5666A>T (p.Glu1889Val)
NM_017534.6(MYH2):c.5671G>T (p.Ala1891Ser)
NM_017534.6(MYH2):c.5672C>T (p.Ala1891Val)
NM_017534.6(MYH2):c.5673+3A>C rs2142289859
NM_017534.6(MYH2):c.5673+4_5673+7del
NM_017534.6(MYH2):c.5673+5G>A
NM_017534.6(MYH2):c.5680C>T (p.Gln1894Ter)
NM_017534.6(MYH2):c.5690C>G (p.Thr1897Ser) rs1480289239
NM_017534.6(MYH2):c.5712G>C (p.Lys1904Asn)
NM_017534.6(MYH2):c.5750A>G (p.Asp1917Gly)
NM_017534.6(MYH2):c.5753T>C (p.Ile1918Thr)
NM_017534.6(MYH2):c.5755G>A (p.Ala1919Thr) rs1464949119
NM_017534.6(MYH2):c.5779C>T (p.Arg1927Trp)
NM_017534.6(MYH2):c.579C>T (p.Ile193=) rs886052571
NM_017534.6(MYH2):c.5801A>C (p.His1934Pro)
NM_017534.6(MYH2):c.5G>T (p.Ser2Ile)
NM_017534.6(MYH2):c.602T>C (p.Val201Ala)
NM_017534.6(MYH2):c.612G>C (p.Glu204Asp) rs1266665896
NM_017534.6(MYH2):c.635C>A (p.Ser212Tyr)
NM_017534.6(MYH2):c.637G>C (p.Gly213Arg)
NM_017534.6(MYH2):c.682C>A (p.Pro228Thr) rs367639163
NM_017534.6(MYH2):c.683C>G (p.Pro228Arg) rs1389727909
NM_017534.6(MYH2):c.701G>A (p.Gly234Asp) rs1567736673
NM_017534.6(MYH2):c.70C>G (p.Arg24Gly)
NM_017534.6(MYH2):c.70C>T (p.Arg24Cys)
NM_017534.6(MYH2):c.710A>G (p.Lys237Arg)
NM_017534.6(MYH2):c.715G>A (p.Val239Met)
NM_017534.6(MYH2):c.71G>A (p.Arg24His)
NM_017534.6(MYH2):c.71G>T (p.Arg24Leu) rs141174023
NM_017534.6(MYH2):c.736C>T (p.Arg246Cys)
NM_017534.6(MYH2):c.737G>T (p.Arg246Leu)
NM_017534.6(MYH2):c.741+6T>C rs2142319220
NM_017534.6(MYH2):c.762C>A (p.His254Gln) rs2073579202
NM_017534.6(MYH2):c.764T>C (p.Phe255Ser)
NM_017534.6(MYH2):c.782T>C (p.Leu261Pro) rs1597457334
NM_017534.6(MYH2):c.798T>G (p.Ile266Met) rs2073578403
NM_017534.6(MYH2):c.824G>T (p.Arg275Ile)
NM_017534.6(MYH2):c.844G>A (p.Ala282Thr)
NM_017534.6(MYH2):c.897A>T (p.Glu299Asp) rs201854230
NM_017534.6(MYH2):c.903T>C (p.Ile301=)
NM_017534.6(MYH2):c.904+1G>C
NM_017534.6(MYH2):c.919A>G (p.Thr307Ala)
NM_017534.6(MYH2):c.91C>A (p.Pro31Thr)
NM_017534.6(MYH2):c.91C>T (p.Pro31Ser)
NM_017534.6(MYH2):c.923C>T (p.Thr308Met) rs2073541339
NM_017534.6(MYH2):c.92C>T (p.Pro31Leu)
NM_017534.6(MYH2):c.946G>A (p.Val316Ile)
NM_017534.6(MYH2):c.950G>T (p.Ser317Ile) rs1567735281
NM_017534.6(MYH2):c.956G>A (p.Gly319Glu) rs2142314883
NM_017534.6(MYH2):c.974G>C (p.Ser325Thr)
NM_017534.6(MYH2):c.988G>A (p.Glu330Lys)
NM_017534.6(MYH2):c.998T>C (p.Met333Thr)
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) rs560953332
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) rs1951030849
NM_017547.4(FOXRED1):c.417+6T>C rs1951035111
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
NM_018116.4(MSTO1):c.1433A>G (p.Tyr478Cys) rs1210628887
NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser) rs1674934230
NM_018116.4(MSTO1):c.1547T>C (p.Leu516Pro)
NM_018116.4(MSTO1):c.154C>G (p.Arg52Gly)
NM_018116.4(MSTO1):c.220+5G>C
NM_018116.4(MSTO1):c.262G>T (p.Asp88Tyr)
NM_018116.4(MSTO1):c.280G>A (p.Ala94Thr)
NM_018116.4(MSTO1):c.305C>T (p.Thr102Ile)
NM_018116.4(MSTO1):c.422-3C>G rs2148988026
NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly) rs1674285118
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
NM_020451.3(SELENON):c.1004A>G (p.Asn335Ser)
NM_020451.3(SELENON):c.1042G>T (p.Gly348Trp) rs374499583
NM_020451.3(SELENON):c.1049G>C (p.Ser350Thr) rs777864718
NM_020451.3(SELENON):c.1072G>A (p.Asp358Asn) rs2047959221
NM_020451.3(SELENON):c.1078G>T (p.Gly360Cys) rs761873230
NM_020451.3(SELENON):c.1092+6C>T rs148071754
NM_020451.3(SELENON):c.1094T>C (p.Met365Thr) rs973033318
NM_020451.3(SELENON):c.10G>T (p.Ala4Ser) rs1371866855
NM_020451.3(SELENON):c.1108A>T (p.Thr370Ser)
NM_020451.3(SELENON):c.1109C>T (p.Thr370Met)
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.1118C>G (p.Ser373Cys)
NM_020451.3(SELENON):c.1123C>A (p.Pro375Thr) rs1379278116
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del) rs770747626
NM_020451.3(SELENON):c.1159G>A (p.Asp387Asn)
NM_020451.3(SELENON):c.1175C>T (p.Ser392Leu) rs758620314
NM_020451.3(SELENON):c.1195G>C (p.Val399Leu) rs1337260819
NM_020451.3(SELENON):c.1201GAG[1] (p.Glu402del) rs1197764943
NM_020451.3(SELENON):c.1206G>C (p.Glu402Asp)
NM_020451.3(SELENON):c.1207A>G (p.Ile403Val)
NM_020451.3(SELENON):c.125_136dup (p.Ala42_Ala45dup) rs999744359
NM_020451.3(SELENON):c.126_134dup (p.Ala43_Ala45dup) rs1161050482
NM_020451.3(SELENON):c.1270C>A (p.Pro424Thr)
NM_020451.3(SELENON):c.1282-3C>G rs1040390429
NM_020451.3(SELENON):c.1282-3C>T
NM_020451.3(SELENON):c.1297T>G (p.Phe433Val)
NM_020451.3(SELENON):c.1301C>G (p.Thr434Ser)
NM_020451.3(SELENON):c.1350C>G (p.Ile450Met) rs797045949
NM_020451.3(SELENON):c.1351C>G (p.Leu451Val) rs200431320
NM_020451.3(SELENON):c.1355T>C (p.Leu452Pro)
NM_020451.3(SELENON):c.1367T>G (p.Leu456Arg) rs2047977658
NM_020451.3(SELENON):c.1369G>T (p.Asp457Tyr) rs2047977673
NM_020451.3(SELENON):c.136G>A (p.Val46Ile) rs2124436757
NM_020451.3(SELENON):c.1377G>C (p.Gln459His)
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1388-1G>C
NM_020451.3(SELENON):c.1415T>C (p.Val472Ala) rs2124454571
NM_020451.3(SELENON):c.1421_1422insC (p.Glu474fs)
NM_020451.3(SELENON):c.1427C>G (p.Ser476Trp) rs368377980
NM_020451.3(SELENON):c.1450G>A (p.Glu484Lys) rs727504149
NM_020451.3(SELENON):c.1465_1466del (p.Thr489fs) rs2047988020
NM_020451.3(SELENON):c.1477G>C (p.Val493Leu) rs1465319326
NM_020451.3(SELENON):c.1504A>T (p.Asn502Tyr)
NM_020451.3(SELENON):c.1510_1512del (p.Glu504del) rs1247672340
NM_020451.3(SELENON):c.1524C>A (p.His508Gln) rs1198379415
NM_020451.3(SELENON):c.1524C>G (p.His508Gln)
NM_020451.3(SELENON):c.152G>A (p.Arg51His)
NM_020451.3(SELENON):c.1534G>A (p.Ala512Thr) rs1358541711
NM_020451.3(SELENON):c.1549_1551del (p.Glu517del)
NM_020451.3(SELENON):c.1567G>A (p.Val523Met)
NM_020451.3(SELENON):c.1572GAT[2] (p.Met526del) rs2047990479
NM_020451.3(SELENON):c.1589C>T (p.Pro530Leu) rs1209522007
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.1602+4G>A rs2047990840
NM_020451.3(SELENON):c.1603-1G>C rs2124456702
NM_020451.3(SELENON):c.1650G>C (p.Lys550Asn)
NM_020451.3(SELENON):c.1651C>G (p.Pro551Ala) rs2124456811
NM_020451.3(SELENON):c.1662C>G (p.Ile554Met)
NM_020451.3(SELENON):c.167A>C (p.Gln56Pro)
NM_020451.3(SELENON):c.1691C>T (p.Thr564Ile)
NM_020451.3(SELENON):c.1703C>T (p.Pro568Leu) rs367859333
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.1744C>G (p.Arg582Gly) rs373530866
NM_020451.3(SELENON):c.1747C>T (p.Arg583Cys) rs758590388
NM_020451.3(SELENON):c.1759C>G (p.Leu587Val)
NM_020451.3(SELENON):c.183+3C>T rs2047850845
NM_020451.3(SELENON):c.184-3C>G
NM_020451.3(SELENON):c.184-3C>T rs1035976243
NM_020451.3(SELENON):c.184-6A>C rs2124437550
NM_020451.3(SELENON):c.188T>G (p.Leu63Arg) rs1557814336
NM_020451.3(SELENON):c.200C>A (p.Thr67Asn)
NM_020451.3(SELENON):c.227T>C (p.Phe76Ser) rs2124437633
NM_020451.3(SELENON):c.257A>G (p.Tyr86Cys) rs1019702401
NM_020451.3(SELENON):c.271G>A (p.Glu91Lys)
NM_020451.3(SELENON):c.273G>C (p.Glu91Asp)
NM_020451.3(SELENON):c.276C>A (p.Phe92Leu) rs756673739
NM_020451.3(SELENON):c.28G>A (p.Gly10Arg)
NM_020451.3(SELENON):c.296T>A (p.Leu99Gln)
NM_020451.3(SELENON):c.301+5C>T
NM_020451.3(SELENON):c.302-3C>G rs1327559756
NM_020451.3(SELENON):c.311C>T (p.Ser104Phe) rs2124438957
NM_020451.3(SELENON):c.346A>T (p.Ser116Cys)
NM_020451.3(SELENON):c.367C>T (p.Pro123Ser)
NM_020451.3(SELENON):c.377A>G (p.Asn126Ser)
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.410C>T (p.Thr137Ile) rs2047894839
NM_020451.3(SELENON):c.455G>T (p.Ser152Ile) rs762382665
NM_020451.3(SELENON):c.456C>G (p.Ser152Arg) rs202188924
NM_020451.3(SELENON):c.464C>T (p.Thr155Met)
NM_020451.3(SELENON):c.472A>G (p.Ile158Val) rs2047895777
NM_020451.3(SELENON):c.473T>C (p.Ile158Thr)
NM_020451.3(SELENON):c.538-3C>T rs1572232433
NM_020451.3(SELENON):c.538-8C>A
NM_020451.3(SELENON):c.538G>A (p.Val180Ile) rs751053087
NM_020451.3(SELENON):c.542C>T (p.Ser181Phe)
NM_020451.3(SELENON):c.544C>T (p.Arg182Cys)
NM_020451.3(SELENON):c.550G>A (p.Ala184Thr) rs199742668
NM_020451.3(SELENON):c.559G>A (p.Gly187Ser)
NM_020451.3(SELENON):c.577G>A (p.Ala193Thr)
NM_020451.3(SELENON):c.580G>A (p.Ala194Thr) rs560203077
NM_020451.3(SELENON):c.58C>T (p.Pro20Ser) rs1329648911
NM_020451.3(SELENON):c.608C>A (p.Thr203Asn)
NM_020451.3(SELENON):c.625_626delinsGC (p.Phe209Ala)
NM_020451.3(SELENON):c.635C>T (p.Pro212Leu)
NM_020451.3(SELENON):c.650T>C (p.Leu217Pro)
NM_020451.3(SELENON):c.65C>T (p.Ala22Val) rs2047849177
NM_020451.3(SELENON):c.668T>A (p.Ile223Asn) rs1299656382
NM_020451.3(SELENON):c.686G>C (p.Ser229Thr) rs56169842
NM_020451.3(SELENON):c.697G>A (p.Gly233Ser) rs2124447513
NM_020451.3(SELENON):c.728C>T (p.Pro243Leu) rs745856385
NM_020451.3(SELENON):c.737A>G (p.Lys246Arg) rs2047932738
NM_020451.3(SELENON):c.746A>T (p.Glu249Val) rs2047932867
NM_020451.3(SELENON):c.760C>G (p.Arg254Gly) rs374195814
NM_020451.3(SELENON):c.760C>T (p.Arg254Trp) rs374195814
NM_020451.3(SELENON):c.795G>A (p.Val265=)
NM_020451.3(SELENON):c.7C>G (p.Arg3Gly) rs866566089
NM_020451.3(SELENON):c.814C>G (p.Gln272Glu) rs2047935649
NM_020451.3(SELENON):c.816G>C (p.Gln272His)
NM_020451.3(SELENON):c.820G>C (p.Ala274Pro)
NM_020451.3(SELENON):c.821C>G (p.Ala274Gly)
NM_020451.3(SELENON):c.843C>G (p.Ile281Met)
NM_020451.3(SELENON):c.86G>A (p.Arg29His) rs1349760554
NM_020451.3(SELENON):c.872+2T>C rs794727808
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020451.3(SELENON):c.875T>A (p.Ile292Asn) rs2047941221
NM_020451.3(SELENON):c.877C>T (p.His293Tyr)
NM_020451.3(SELENON):c.943G>C (p.Gly315Arg) rs121908188
NM_020451.3(SELENON):c.94G>C (p.Ala32Pro)
NM_020451.3(SELENON):c.977T>G (p.Val326Gly) rs2047942764
NM_021074.5(NDUFV2):c.*51A>C rs1188007874
NM_021074.5(NDUFV2):c.-39G>T rs748188888
NM_021074.5(NDUFV2):c.17C>G (p.Ala6Gly) rs559485096
NM_021074.5(NDUFV2):c.29G>T (p.Arg10Leu) rs1035730836
NM_021074.5(NDUFV2):c.301-10A>G rs756241126
NM_021074.5(NDUFV2):c.415C>A (p.Pro139Thr) rs886054124
NM_021074.5(NDUFV2):c.442A>C (p.Ile148Leu) rs2077948602
NM_021074.5(NDUFV2):c.469+12A>G rs538112556
NM_021074.5(NDUFV2):c.678G>A (p.Glu226=) rs1372175274
NM_021090.4(MTMR3):c.1819C>T (p.Arg607Trp)
NM_021738.3(SVIL):c.1631G>A (p.Arg544His)
NM_021738.3(SVIL):c.3386A>G (p.Glu1129Gly) rs2132529196
NM_021738.3(SVIL):c.3599C>T (p.Thr1200Met)
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-304G>A rs200599543
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) rs1219162535
NM_021830.5(TWNK):c.1817C>G (p.Ser606Cys)
NM_021830.5(TWNK):c.1826G>A (p.Arg609His)
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.250T>G (p.Phe84Val)
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.299T>G (p.Phe100Cys)
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.827C>T (p.Thr276Met)
NM_021830.5(TWNK):c.868T>A (p.Leu290Ile) rs2133937386
NM_021830.5(TWNK):c.905G>A (p.Arg302Gln)
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.114C>A (p.Ser38Arg) rs369277594
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys) rs1980757406
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu) rs1980770637
NM_024120.5(NDUFAF5):c.25C>G (p.Arg9Gly) rs768566143
NM_024120.5(NDUFAF5):c.92C>T (p.Ser31Phe) rs375461797
NM_024407.5(NDUFS7):c.*3CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3CCG[5] rs3065757
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del) rs1565554407
NM_024854.5(PYROXD1):c.343G>A (p.Gly115Arg) rs1942454969
NM_024854.5(PYROXD1):c.394C>T (p.Arg132Cys)
NM_024854.5(PYROXD1):c.617T>C (p.Ile206Thr) rs1261980731
NM_024854.5(PYROXD1):c.750+5C>A
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1119_*1120insA rs886050456
NM_025152.3(NUBPL):c.*1121_*1123del rs886050458
NM_025152.3(NUBPL):c.*1121dup rs886050457
NM_025152.3(NUBPL):c.*1122_*1124del rs886050460
NM_025152.3(NUBPL):c.*1122dup rs886050459
NM_025152.3(NUBPL):c.*1144_*1147del rs34847511
NM_025152.3(NUBPL):c.*1145_*1148del rs886050463
NM_025152.3(NUBPL):c.*1146_*1148del rs886050464
NM_025152.3(NUBPL):c.*1147dup rs34847511
NM_025152.3(NUBPL):c.*1148del rs886050465
NM_025152.3(NUBPL):c.*1149_*1150insA rs886050466
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1155dup rs886050467
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*1594T>G rs2040700976
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1655A>G rs1407466515
NM_025152.3(NUBPL):c.*1768G>A rs2040704041
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*237G>T rs1566603021
NM_025152.3(NUBPL):c.*323G>T rs2040678852
NM_025152.3(NUBPL):c.*742C>G rs760265792
NM_025152.3(NUBPL):c.*817T>A rs2040686751
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) rs2033400591
NM_025152.3(NUBPL):c.349A>G (p.Met117Val) rs773620793
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) rs773747183
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613
NM_032446.2(MEGF10):c.-348C>A rs573108245
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn) rs1008949819
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro) rs1187897430
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro) rs779148735
NM_032578.4(MYPN):c.2165G>A (p.Arg722Gln) rs530701227
NM_032578.4(MYPN):c.217G>C (p.Asp73His) rs2042244267
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln) rs138583865
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
NM_032578.4(MYPN):c.2285G>A (p.Ser762Asn)
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala) rs1131691857
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr) rs1196958004
NM_032578.4(MYPN):c.254A>G (p.Tyr85Cys)
NM_032578.4(MYPN):c.2565-17G>A rs1334366122
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu) rs193022869
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe) rs943422668
NM_032578.4(MYPN):c.3158+6G>T
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln) rs150414382
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys) rs372824930
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr) rs1284303981
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278
NM_032578.4(MYPN):c.3380G>T (p.Gly1127Val)
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser) rs200390297
NM_032578.4(MYPN):c.3644C>T (p.Thr1215Ile)
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val) rs1564702434
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala) rs2133994610
NM_032578.4(MYPN):c.3756_3757insA (p.Gly1253fs) rs2043824248
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) rs199476416
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile) rs777519016
NM_032578.4(MYPN):c.3865A>G (p.Ser1289Gly)
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe) rs1564704607
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.587_593delinsTAAC (p.Ser196_Ser198delinsIleThr)
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn) rs1454105180
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) rs794727304
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr) rs560119421
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly) rs745678026
NM_032608.7(MYO18B):c.1225C>T (p.Arg409Trp)
NM_032608.7(MYO18B):c.1239_1240del (p.Lys414fs)
NM_032608.7(MYO18B):c.1244G>T (p.Gly415Val) rs2145588441
NM_032608.7(MYO18B):c.136G>A (p.Glu46Lys)
NM_032608.7(MYO18B):c.1459G>A (p.Gly487Arg) rs370452415
NM_032608.7(MYO18B):c.1763T>C (p.Leu588Pro)
NM_032608.7(MYO18B):c.2183C>T (p.Thr728Ile)
NM_032608.7(MYO18B):c.2191A>G (p.Ile731Val)
NM_032608.7(MYO18B):c.2396C>T (p.Ala799Val)
NM_032608.7(MYO18B):c.2503G>A (p.Ala835Thr)
NM_032608.7(MYO18B):c.2545T>C (p.Phe849Leu)
NM_032608.7(MYO18B):c.2884A>G (p.Thr962Ala)
NM_032608.7(MYO18B):c.3065G>A (p.Arg1022His)
NM_032608.7(MYO18B):c.3166C>T (p.Arg1056Cys)
NM_032608.7(MYO18B):c.3389T>C (p.Phe1130Ser)
NM_032608.7(MYO18B):c.39+5G>T
NM_032608.7(MYO18B):c.3982C>G (p.Leu1328Val)
NM_032608.7(MYO18B):c.3991C>A (p.Gln1331Lys)
NM_032608.7(MYO18B):c.4399C>T (p.Arg1467Trp)
NM_032608.7(MYO18B):c.5684G>A (p.Arg1895His) rs370592345
NM_032608.7(MYO18B):c.5971-1045_5971-1042delinsGCCA
NM_032608.7(MYO18B):c.6182C>T (p.Ala2061Val)
NM_032608.7(MYO18B):c.7579C>T (p.Arg2527Ter)
NM_032608.7(MYO18B):c.969AAG[1] (p.Arg325del) rs1601634468
NM_032790.3(ORAI1):c.303+2T>C rs1892796192
NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)
NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)
NM_032790.4(ORAI1):c.113_121delAGCCCCCGG (p.Glu38_Pro40del) rs781971569
NM_032790.4(ORAI1):c.114G>T (p.Glu38Asp) rs1226204743
NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)
NM_032790.4(ORAI1):c.122_142dup (p.Pro47_Ser48insTrpAlaProProProProPro) rs2089908763
NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)
NM_032790.4(ORAI1):c.131CGC[3][1] (p.Pro47Hisfs)
NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)
NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)
NM_032790.4(ORAI1):c.132_133delAC (p.Pro45Alafs)
NM_032790.4(ORAI1):c.132_143delACCGCCGCCGTC (p.Pro45_Ser48del) rs1566465887
NM_032790.4(ORAI1):c.132delAinsGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCCCCGCCGCCGCAGCGGGGACGGGGAGCCCCCGGGGGCC (p.Pro46Glnfs) rs1892790617
NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)
NM_032790.4(ORAI1):c.133_135CCG[4] (p.Pro47_Ser48insPro)
NM_032790.4(ORAI1):c.135G>A (p.Pro45=)
NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)
NM_032790.4(ORAI1):c.16_20GCCCC[3] (p.Pro9Argfs)
NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)
NM_032790.4(ORAI1):c.173_174AG[1] (p.Ser59Leufs)
NM_032790.4(ORAI1):c.187G>A (p.Val63Met)
NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)
NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)
NM_032790.4(ORAI1):c.268A>C (p.Ser90Arg)
NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)
NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)
NM_032790.4(ORAI1):c.376T>C (p.Cys126Arg) rs1893050626
NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)
NM_032790.4(ORAI1):c.391G>A (p.Val131Met)
NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)
NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)
NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)
NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)
NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)
NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)
NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)
NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)
NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)
NM_032790.4(ORAI1):c.55delA (p.Ser19Alafs) rs2136841389
NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)
NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser) rs1244560316
NM_032790.4(ORAI1):c.58G>C (p.Gly20Arg) rs1244560316
NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)
NM_032790.4(ORAI1):c.58_72delGGCGGCAGCACCACC (p.Gly20_Thr24del)
NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)
NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)
NM_032790.4(ORAI1):c.64_81dup (p.Ser27_Arg28insSerThrThrSerGlySer) rs2136841403
NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)
NM_032790.4(ORAI1):c.700G>A (p.Ala234Thr) rs1594212759
NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)
NM_032790.4(ORAI1):c.712G>C (p.Ala238Pro)
NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)
NM_032790.4(ORAI1):c.729G>T (p.Met243Ile)
NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)
NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)
NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)
NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)
NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)
NM_032790.4(ORAI1):c.85_99dup (p.Arg33_Ser34insArgSerArgArgArg) rs1372064351
NM_032790.4(ORAI1):c.862_863CA[3] (p.Arg289Thrfs) rs1194726675
NM_032790.4(ORAI1):c.863A>G (p.His288Arg)
NM_032790.4(ORAI1):c.874delC (p.His292Thrfs)
NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)
NM_032790.4(ORAI1):c.8C>T (p.Pro3Leu)
NM_032790.4(ORAI1):c.91_93CGC[4] (p.Arg33_Ser34insArg) rs782013212
NM_032790.4(ORAI1):c.91_93CGC[6] (p.Arg33_Ser34insArgArgArg) rs782013212
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.679C>G (p.Leu227Val) rs2133606863
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_080916.3(DGUOK):c.14G>A (p.Arg5His)
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del) rs1396335431
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.10559C>A (p.Pro3520Gln) rs189445085
NM_133379.5(TTN):c.11056T>C (p.Trp3686Arg) rs184027783
NM_133379.5(TTN):c.11899T>C (p.Phe3967Leu) rs182640468
NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly) rs201757429
NM_133379.5(TTN):c.12276C>T (p.Pro4092=) rs902600429
NM_133379.5(TTN):c.12356del (p.Glu4119fs) rs1085307104
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter) rs372994805
NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs) rs1460696675
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter) rs1430676547
NM_133379.5(TTN):c.14407G>A (p.Glu4803Lys) rs2084167410
NM_133379.5(TTN):c.15304A>G (p.Thr5102Ala) rs371168275
NM_133379.5(TTN):c.15676G>C (p.Asp5226His) rs147492121
NM_133379.5(TTN):c.16531G>T (p.Glu5511Ter) rs794729307
NM_138638.5(CFL2):c.*1030C>G rs1885306504
NM_138638.5(CFL2):c.*2340T>G rs886050473
NM_138638.5(CFL2):c.*362G>A rs553554454
NM_138638.5(CFL2):c.114C>A (p.Phe38Leu)
NM_138638.5(CFL2):c.116G>A (p.Cys39Tyr)
NM_138638.5(CFL2):c.127G>A (p.Asp43Asn) rs2138474697
NM_138638.5(CFL2):c.151G>A (p.Glu51Lys) rs1885385349
NM_138638.5(CFL2):c.176A>G (p.Asp59Gly)
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138638.5(CFL2):c.203A>G (p.Tyr68Cys) rs1885382343
NM_138638.5(CFL2):c.22A>G (p.Asn8Asp) rs2138475009
NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)
NM_138638.5(CFL2):c.242G>A (p.Arg81Gln) rs1885381246
NM_138638.5(CFL2):c.24TGA[1] (p.Asp9del) rs1268123385
NM_138638.5(CFL2):c.256G>A (p.Asp86Asn)
NM_138638.5(CFL2):c.25_26delinsAT (p.Asp9Ile)
NM_138638.5(CFL2):c.268G>A (p.Glu90Lys) rs879148457
NM_138638.5(CFL2):c.276A>C (p.Lys92Asn) rs1468647166
NM_138638.5(CFL2):c.301T>C (p.Phe101Leu)
NM_138638.5(CFL2):c.304A>G (p.Ile102Val) rs2138474233
NM_138638.5(CFL2):c.312-3T>G rs1885369430
NM_138638.5(CFL2):c.316C>A (p.Pro106Thr) rs770605729
NM_138638.5(CFL2):c.327A>G (p.Ala109=)
NM_138638.5(CFL2):c.328C>T (p.Pro110Ser) rs1594784547
NM_138638.5(CFL2):c.349del (p.Tyr117fs) rs1885368186
NM_138638.5(CFL2):c.353C>G (p.Ala118Gly) rs865927835
NM_138638.5(CFL2):c.388G>C (p.Gly130Arg) rs1566525113
NM_138638.5(CFL2):c.38A>G (p.Lys13Arg)
NM_138638.5(CFL2):c.452A>G (p.Glu151Gly) rs2138473087
NM_138638.5(CFL2):c.457T>G (p.Leu153Val) rs587780312
NM_138638.5(CFL2):c.467A>G (p.Asn156Ser) rs2138473058
NM_138638.5(CFL2):c.469G>A (p.Val157Ile)
NM_138638.5(CFL2):c.471AGT[1] (p.Val159del) rs1594784265
NM_138638.5(CFL2):c.475G>T (p.Val159Phe) rs1885356615
NM_138638.5(CFL2):c.497T>C (p.Leu166Ser)
NM_138638.5(CFL2):c.500A>G (p.Ter167=)
NM_138638.5(CFL2):c.51T>A (p.Asp17Glu)
NM_138638.5(CFL2):c.54G>A (p.Met18Ile) rs1594784960
NM_138638.5(CFL2):c.55A>G (p.Lys19Glu)
NM_138638.5(CFL2):c.67TCT[1] (p.Ser24del)
NM_138638.5(CFL2):c.70T>G (p.Ser24Ala)
NM_138638.5(CFL2):c.76C>G (p.Gln26Glu) rs1885389290
NM_138638.5(CFL2):c.78_80del (p.Glu28del) rs751972348
NM_138638.5(CFL2):c.97A>C (p.Lys33Gln)
NM_139343.2(BIN1):c.-366C>A rs886054843
NM_139343.3(BIN1):c.*194C>T rs565856632
NM_139343.3(BIN1):c.*214G>A rs886054832
NM_139343.3(BIN1):c.*247G>T rs1334404831
NM_139343.3(BIN1):c.*479del rs367627116
NM_139343.3(BIN1):c.*55G>A rs886054833
NM_139343.3(BIN1):c.*82C>T rs111649895
NM_139343.3(BIN1):c.-105G>T rs575072529
NM_139343.3(BIN1):c.-114del rs886054837
NM_139343.3(BIN1):c.-146C>G rs1462553382
NM_139343.3(BIN1):c.-177_-174dup rs886054838
NM_139343.3(BIN1):c.-192G>A rs886054839
NM_139343.3(BIN1):c.-197C>A rs886054840
NM_139343.3(BIN1):c.1018C>G (p.Pro340Ala)
NM_139343.3(BIN1):c.1028C>T (p.Pro343Leu)
NM_139343.3(BIN1):c.1051A>G (p.Lys351Glu)
NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)
NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) rs886043420
NM_139343.3(BIN1):c.1092C>G (p.Asp364Glu)
NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) rs1553456782
NM_139343.3(BIN1):c.1113C>G (p.Ser371Arg)
NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)
NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg) rs2104935838
NM_139343.3(BIN1):c.1124C>T (p.Pro375Leu)
NM_139343.3(BIN1):c.1132-22TGC[7] rs748026377
NM_139343.3(BIN1):c.1132-2A>G rs1295546366
NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)
NM_139343.3(BIN1):c.1145G>A (p.Gly382Glu)
NM_139343.3(BIN1):c.1147C>A (p.Pro383Thr) rs1573549506
NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) rs1573549506
NM_139343.3(BIN1):c.1155G>A (p.Ser385=)
NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)
NM_139343.3(BIN1):c.1162G>A (p.Ala388Thr)
NM_139343.3(BIN1):c.1166G>C (p.Ser389Thr) rs1683302135
NM_139343.3(BIN1):c.11T>C (p.Met4Thr)
NM_139343.3(BIN1):c.1201G>A (p.Val401Met)
NM_139343.3(BIN1):c.1208G>A (p.Ser403Asn)
NM_139343.3(BIN1):c.1213G>A (p.Val405Met)
NM_139343.3(BIN1):c.1219G>A (p.Ala407Thr)
NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)
NM_139343.3(BIN1):c.1240-7C>A
NM_139343.3(BIN1):c.1251G>A (p.Trp417Ter) rs2104891817
NM_139343.3(BIN1):c.1251G>C (p.Trp417Cys)
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1286G>A (p.Ser429Asn)
NM_139343.3(BIN1):c.1291C>T (p.Pro431Ser)
NM_139343.3(BIN1):c.1303C>A (p.Pro435Thr) rs1240564481
NM_139343.3(BIN1):c.1326T>G (p.Phe442Leu)
NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) rs758494519
NM_139343.3(BIN1):c.1334C>A (p.Ser445Tyr) rs1158338100
NM_139343.3(BIN1):c.1334C>T (p.Ser445Phe)
NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)
NM_139343.3(BIN1):c.1349C>A (p.Thr450Lys) rs750715069
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)
NM_139343.3(BIN1):c.1366G>A (p.Ala456Thr)
NM_139343.3(BIN1):c.1372-1G>A rs1682909859
NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)
NM_139343.3(BIN1):c.139T>C (p.Cys47Arg)
NM_139343.3(BIN1):c.1408C>G (p.Pro470Ala)
NM_139343.3(BIN1):c.1429C>A (p.Pro477Thr)
NM_139343.3(BIN1):c.142G>A (p.Val48Ile)
NM_139343.3(BIN1):c.1435G>A (p.Glu479Lys) rs865803817
NM_139343.3(BIN1):c.1439C>A (p.Thr480Lys)
NM_139343.3(BIN1):c.1470del (p.Pro491fs)
NM_139343.3(BIN1):c.1472del (p.Pro491fs) rs1682848303
NM_139343.3(BIN1):c.1478T>C (p.Val493Ala) rs1682847067
NM_139343.3(BIN1):c.1483G>T (p.Val495Leu) rs1191840422
NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)
NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)
NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.152T>G (p.Phe51Cys)
NM_139343.3(BIN1):c.1532G>A (p.Gly511Glu)
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) rs886043878
NM_139343.3(BIN1):c.1580C>T (p.Ala527Val) rs2104859449
NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)
NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)
NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)
NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile) rs773732601
NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)
NM_139343.3(BIN1):c.1620G>T (p.Gln540His)
NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu) rs1445898966
NM_139343.3(BIN1):c.1645G>A (p.Val549Met)
NM_139343.3(BIN1):c.165+1G>A
NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)
NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys) rs1682762039
NM_139343.3(BIN1):c.1675-2A>G
NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)
NM_139343.3(BIN1):c.167C>T (p.Thr56Met)
NM_139343.3(BIN1):c.1682G>C (p.Gly561Ala)
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)
NM_139343.3(BIN1):c.1696G>T (p.Val566Leu) rs761759946
NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) rs368983991
NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)
NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu) rs2104840053
NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) rs775119768
NM_139343.3(BIN1):c.173G>T (p.Gly58Val) rs1282156307
NM_139343.3(BIN1):c.1742G>A (p.Arg581His)
NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)
NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly) rs2104839547
NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)
NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)
NM_139343.3(BIN1):c.179G>A (p.Arg60Gln) rs1558835946
NM_139343.3(BIN1):c.193C>A (p.Leu65Ile) rs2105078067
NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)
NM_139343.3(BIN1):c.197G>A (p.Arg66Gln)
NM_139343.3(BIN1):c.220+4G>A
NM_139343.3(BIN1):c.224T>C (p.Met75Thr) rs1024658796
NM_139343.3(BIN1):c.229G>A (p.Glu77Lys) rs1685759135
NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)
NM_139343.3(BIN1):c.236C>T (p.Ser79Phe) rs1377099769
NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)
NM_139343.3(BIN1):c.259C>T (p.Gln87Ter) rs2105075896
NM_139343.3(BIN1):c.277G>A (p.Asp93Asn) rs774273606
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)
NM_139343.3(BIN1):c.289A>G (p.Arg97Gly)
NM_139343.3(BIN1):c.29C>A (p.Thr10Lys) rs1681237812
NM_139343.3(BIN1):c.29C>T (p.Thr10Met)
NM_139343.3(BIN1):c.310G>A (p.Ala104Thr) rs754932468
NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)
NM_139343.3(BIN1):c.313G>A (p.Glu105Lys) rs1685745258
NM_139343.3(BIN1):c.313_314delinsTT (p.Glu105Leu)
NM_139343.3(BIN1):c.315+3G>C rs764821578
NM_139343.3(BIN1):c.316-8T>A
NM_139343.3(BIN1):c.329T>A (p.Leu110Gln) rs2105070437
NM_139343.3(BIN1):c.363G>C (p.Gln121His)
NM_139343.3(BIN1):c.376A>G (p.Met126Val)
NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)
NM_139343.3(BIN1):c.382_383dup (p.Tyr129fs) rs761813363
NM_139343.3(BIN1):c.385T>C (p.Tyr129His) rs2105069995
NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)
NM_139343.3(BIN1):c.404A>G (p.Asp135Gly)
NM_139343.3(BIN1):c.411+1G>T
NM_139343.3(BIN1):c.411+5G>C
NM_139343.3(BIN1):c.418A>C (p.Ile140Leu) rs1407049344
NM_139343.3(BIN1):c.427C>T (p.Arg143Trp)
NM_139343.3(BIN1):c.430G>A (p.Gly144Arg) rs1685516968
NM_139343.3(BIN1):c.430_432del (p.Gly144del) rs1685516331
NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) rs761914168
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.469_471del (p.Tyr157del)
NM_139343.3(BIN1):c.478C>T (p.Leu160Phe) rs1685511003
NM_139343.3(BIN1):c.493AAG[1] (p.Lys166del) rs775374523
NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)
NM_139343.3(BIN1):c.519+6G>T
NM_139343.3(BIN1):c.51C>G (p.Asn17Lys) rs2105378914
NM_139343.3(BIN1):c.552G>C (p.Gln184His)
NM_139343.3(BIN1):c.55C>G (p.Gln19Glu) rs2105378861
NM_139343.3(BIN1):c.574G>T (p.Ala192Ser)
NM_139343.3(BIN1):c.596A>T (p.Asn199Ile) rs2105049284
NM_139343.3(BIN1):c.5C>T (p.Ala2Val)
NM_139343.3(BIN1):c.613-3C>A
NM_139343.3(BIN1):c.61A>C (p.Lys21Gln)
NM_139343.3(BIN1):c.662T>A (p.Val221Glu)
NM_139343.3(BIN1):c.666T>G (p.Asp222Glu) rs376323215
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.698+10_698+12delinsGTT
NM_139343.3(BIN1):c.698+3G>A
NM_139343.3(BIN1):c.701G>A (p.Arg234His)
NM_139343.3(BIN1):c.703G>A (p.Val235Ile)
NM_139343.3(BIN1):c.70C>G (p.Arg24Gly) rs2105378684
NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)
NM_139343.3(BIN1):c.715G>C (p.Val239Leu)
NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)
NM_139343.3(BIN1):c.737C>T (p.Ala246Val)
NM_139343.3(BIN1):c.740G>A (p.Gly247Asp) rs1684781364
NM_139343.3(BIN1):c.758A>G (p.His253Arg)
NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)
NM_139343.3(BIN1):c.770G>A (p.Ser257Asn) rs761203710
NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)
NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)
NM_139343.3(BIN1):c.821A>G (p.His274Arg)
NM_139343.3(BIN1):c.823G>T (p.Gly275Trp) rs771506242
NM_139343.3(BIN1):c.84+4286_84+4287delinsAT
NM_139343.3(BIN1):c.84+6C>A
NM_139343.3(BIN1):c.84+9G>A rs762680903
NM_139343.3(BIN1):c.847G>A (p.Ala283Thr)
NM_139343.3(BIN1):c.84G>C (p.Lys28Asn) rs1681229622
NM_139343.3(BIN1):c.85-3C>T
NM_139343.3(BIN1):c.857+4C>G
NM_139343.3(BIN1):c.857+5G>A
NM_139343.3(BIN1):c.863A>G (p.Asn288Ser) rs2104954121
NM_139343.3(BIN1):c.865G>A (p.Ala289Thr)
NM_139343.3(BIN1):c.901G>T (p.Asp301Tyr) rs1462533329
NM_139343.3(BIN1):c.902A>G (p.Asp301Gly) rs1259572705
NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)
NM_139343.3(BIN1):c.913G>C (p.Ala305Pro)
NM_139343.3(BIN1):c.916G>A (p.Ala306Thr)
NM_139343.3(BIN1):c.920C>T (p.Thr307Ile) rs199551366
NM_139343.3(BIN1):c.929T>A (p.Ile310Asn)
NM_139343.3(BIN1):c.935T>G (p.Val312Gly)
NM_139343.3(BIN1):c.943G>A (p.Glu315Lys) rs769801396
NM_139343.3(BIN1):c.943G>C (p.Glu315Gln) rs769801396
NM_139343.3(BIN1):c.953C>T (p.Pro318Leu)
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)
NM_139343.3(BIN1):c.965C>T (p.Ala322Val) rs1684085224
NM_139343.3(BIN1):c.969_980del (p.Pro324_Thr327del)
NM_139343.3(BIN1):c.969_980dup (p.Thr327_Leu328insProGlyAlaThr)
NM_139343.3(BIN1):c.974G>C (p.Gly325Ala)
NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)
NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) rs558639756
NM_145064.3(STAC3):c.1008G>C (p.Gln336His) rs2136821205
NM_145064.3(STAC3):c.1073C>T (p.Thr358Ile) rs2136820993
NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)
NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)
NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)
NM_145064.3(STAC3):c.145A>G (p.Asn49Asp) rs2037840980
NM_145064.3(STAC3):c.151G>C (p.Glu51Gln) rs2136836172
NM_145064.3(STAC3):c.170G>A (p.Gly57Asp)
NM_145064.3(STAC3):c.170G>C (p.Gly57Ala) rs1027548586
NM_145064.3(STAC3):c.181TAC[1] (p.Tyr62del) rs2037839479
NM_145064.3(STAC3):c.195GGAAGA[2] (p.Glu75_Glu76del) rs747619441
NM_145064.3(STAC3):c.195GGAAGA[4] (p.Glu75_Glu76dup) rs747619441
NM_145064.3(STAC3):c.214GAG[4] (p.Glu76del) rs781007752
NM_145064.3(STAC3):c.214GAG[6] (p.Glu76dup) rs781007752
NM_145064.3(STAC3):c.24G>C (p.Glu8Asp) rs2136837458
NM_145064.3(STAC3):c.264G>T (p.Lys88Asn) rs200362421
NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr) rs775388111
NM_145064.3(STAC3):c.293A>G (p.Lys98Arg)
NM_145064.3(STAC3):c.299C>T (p.Pro100Leu) rs1176692820
NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)
NM_145064.3(STAC3):c.334+3G>T rs2136835225
NM_145064.3(STAC3):c.334C>T (p.Leu112Phe)
NM_145064.3(STAC3):c.336CAA[2] (p.Asn114del) rs1260528039
NM_145064.3(STAC3):c.347T>A (p.Phe116Tyr)
NM_145064.3(STAC3):c.347T>G (p.Phe116Cys) rs1565783065
NM_145064.3(STAC3):c.34C>G (p.Pro12Ala) rs1382772416
NM_145064.3(STAC3):c.379A>G (p.Ile127Val)
NM_145064.3(STAC3):c.392G>C (p.Cys131Ser)
NM_145064.3(STAC3):c.395A>G (p.Gln132Arg)
NM_145064.3(STAC3):c.404T>C (p.Val135Ala) rs2037825175
NM_145064.3(STAC3):c.416G>C (p.Arg139Thr)
NM_145064.3(STAC3):c.419G>C (p.Cys140Ser) rs779015879
NM_145064.3(STAC3):c.424G>A (p.Gly142Ser) rs777565251
NM_145064.3(STAC3):c.424G>C (p.Gly142Arg) rs777565251
NM_145064.3(STAC3):c.432+4A>T rs751033943
NM_145064.3(STAC3):c.440G>A (p.Gly147Asp) rs1280812031
NM_145064.3(STAC3):c.445C>T (p.His149Tyr)
NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)
NM_145064.3(STAC3):c.458G>A (p.Ser153Asn) rs2037800739
NM_145064.3(STAC3):c.473G>A (p.Ser158Asn) rs1592247209
NM_145064.3(STAC3):c.487G>A (p.Ala163Thr) rs1555194487
NM_145064.3(STAC3):c.491G>C (p.Cys164Ser) rs2037798842
NM_145064.3(STAC3):c.505+6T>G rs2136832342
NM_145064.3(STAC3):c.518G>T (p.Arg173Leu) rs187407788
NM_145064.3(STAC3):c.530T>C (p.Val177Ala)
NM_145064.3(STAC3):c.544C>A (p.Arg182Ser) rs768476164
NM_145064.3(STAC3):c.554T>C (p.Val185Ala) rs2037753047
NM_145064.3(STAC3):c.560T>A (p.Met187Lys) rs1461373398
NM_145064.3(STAC3):c.56G>T (p.Arg19Leu)
NM_145064.3(STAC3):c.583G>A (p.Gly195Arg) rs1382250150
NM_145064.3(STAC3):c.622G>C (p.Glu208Gln) rs2037706930
NM_145064.3(STAC3):c.652G>A (p.Glu218Lys) rs753872266
NM_145064.3(STAC3):c.66+3G>A
NM_145064.3(STAC3):c.662C>A (p.Pro221His) rs760547303
NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)
NM_145064.3(STAC3):c.746C>T (p.Ser249Phe) rs760144996
NM_145064.3(STAC3):c.770G>T (p.Arg257Leu) rs2037686346
NM_145064.3(STAC3):c.772T>C (p.Phe258Leu)
NM_145064.3(STAC3):c.799G>C (p.Asp267His) rs2136822846
NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)
NM_145064.3(STAC3):c.893C>G (p.Pro298Arg) rs2136821900
NM_145064.3(STAC3):c.904A>T (p.Ile302Phe) rs2136821866
NM_145064.3(STAC3):c.932A>G (p.His311Arg) rs1555193817
NM_145064.3(STAC3):c.935G>A (p.Arg312His) rs2037674310
NM_145064.3(STAC3):c.964G>T (p.Glu322Ter) rs2136821674
NM_145064.3(STAC3):c.969dup (p.Gly324fs)
NM_145064.3(STAC3):c.978C>G (p.Ile326Met) rs754455763
NM_145064.3(STAC3):c.987G>T (p.Lys329Asn) rs1445308443
NM_145064.3(STAC3):c.996+1G>A rs112907880
NM_145064.3(STAC3):c.996+3A>G rs2136821619
NM_145064.3(STAC3):c.996+4G>A rs2037672628
NM_145064.3(STAC3):c.997-1G>C rs779483367
NM_145064.3(STAC3):c.999C>G (p.Ile333Met) rs754352201
NM_152263.4(TPM3):c.*1093T>C rs886045311
NM_152263.4(TPM3):c.*1359G>T rs563700738
NM_152263.4(TPM3):c.*1397A>G rs1660988364
NM_152263.4(TPM3):c.*1964A>G rs886045309
NM_152263.4(TPM3):c.*2035C>T rs886045308
NM_152263.4(TPM3):c.*2130del rs370257288
NM_152263.4(TPM3):c.*2295T>C rs1261513379
NM_152263.4(TPM3):c.*2597G>T rs886045305
NM_152263.4(TPM3):c.*2675T>C rs886045304
NM_152263.4(TPM3):c.*2757C>G rs897434039
NM_152263.4(TPM3):c.*2774G>C rs886045303
NM_152263.4(TPM3):c.*3015G>A rs1207872451
NM_152263.4(TPM3):c.*325G>A rs886045315
NM_152263.4(TPM3):c.*3558G>A rs886045302
NM_152263.4(TPM3):c.*3756dup rs574252210
NM_152263.4(TPM3):c.*3807G>T rs886045301
NM_152263.4(TPM3):c.*3872T>C rs1571372689
NM_152263.4(TPM3):c.*4194G>A rs886045300
NM_152263.4(TPM3):c.*41C>G rs886045318
NM_152263.4(TPM3):c.*4423G>A rs373468102
NM_152263.4(TPM3):c.*4574_*4578del rs886045293
NM_152263.4(TPM3):c.*4636G>A rs886045292
NM_152263.4(TPM3):c.*5028_*5029dup rs886045291
NM_152263.4(TPM3):c.*5204C>T rs1660513178
NM_152263.4(TPM3):c.*5239C>T rs1020851805
NM_152263.4(TPM3):c.*5266T>G rs143097126
NM_152263.4(TPM3):c.*5406A>G rs1039422203
NM_152263.4(TPM3):c.*5549GT[1] rs886045290
NM_152263.4(TPM3):c.*5572dup rs58289686
NM_152263.4(TPM3):c.*5573GA[1] rs886045288
NM_152263.4(TPM3):c.*5583C>T rs886045286
NM_152263.4(TPM3):c.*5594G>T rs550606876
NM_152263.4(TPM3):c.*5715C>T rs527401847
NM_152263.4(TPM3):c.*5865A>G rs1159409765
NM_152263.4(TPM3):c.*5870A>T rs890715632
NM_152263.4(TPM3):c.*5926T>C rs886045285
NM_152263.4(TPM3):c.*61C>A rs886045317
NM_152263.4(TPM3):c.*958C>T rs577888532
NM_152263.4(TPM3):c.118-3T>C rs375206251
NM_152263.4(TPM3):c.118-3_118-2del
NM_152263.4(TPM3):c.118C>G (p.Leu40Val) rs1160675914
NM_152263.4(TPM3):c.118C>T (p.Leu40=)
NM_152263.4(TPM3):c.11C>T (p.Ala4Val) rs199474711
NM_152263.4(TPM3):c.124G>A (p.Asp42Asn) rs1663671899
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)
NM_152263.4(TPM3):c.185_193del (p.Ser62_Ala64del)
NM_152263.4(TPM3):c.19A>G (p.Lys7Glu)
NM_152263.4(TPM3):c.212A>T (p.Lys71Met) rs2148294477
NM_152263.4(TPM3):c.229AAG[1] (p.Lys78del) rs2148294430
NM_152263.4(TPM3):c.235G>C (p.Ala79Pro)
NM_152263.4(TPM3):c.243+11GA[2] rs146969764
NM_152263.4(TPM3):c.243+3_243+6del
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.270C>A (p.Asn90Lys)
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.289G>A (p.Glu97Lys)
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
NM_152263.4(TPM3):c.320T>C (p.Leu107Pro)
NM_152263.4(TPM3):c.324C>T (p.Ala108=) rs1034128909
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023
NM_152263.4(TPM3):c.341T>C (p.Leu114Pro)
NM_152263.4(TPM3):c.346G>A (p.Glu116Lys)
NM_152263.4(TPM3):c.401G>A (p.Arg134Gln) rs769493959
NM_152263.4(TPM3):c.412G>C (p.Asp138His) rs2148242185
NM_152263.4(TPM3):c.413A>G (p.Asp138Gly)
NM_152263.4(TPM3):c.458_459insTAG (p.Lys153delinsAsnArg)
NM_152263.4(TPM3):c.466G>A (p.Ala156Thr) rs199474714
NM_152263.4(TPM3):c.480T>A (p.Asp160Glu) rs1030128563
NM_152263.4(TPM3):c.480T>G (p.Asp160Glu)
NM_152263.4(TPM3):c.494A>G (p.Glu165Gly) rs1661790334
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met) rs2148235398
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro) rs1663698070
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.64C>T (p.Arg22Trp)
NM_152263.4(TPM3):c.692A>G (p.Asp231Gly)
NM_152263.4(TPM3):c.705+12G>T
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.723G>C (p.Glu241Asp)
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.755A>G (p.Lys252Arg)
NM_152263.4(TPM3):c.760A>G (p.Ile254Val) rs1553248513
NM_152263.4(TPM3):c.763G>A (p.Asp255Asn)
NM_152263.4(TPM3):c.775+4T>C
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.776-14C>T rs943685377
NM_152263.4(TPM3):c.776-18G>T
NM_152263.4(TPM3):c.776A>T (p.Asp259Val)
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
NM_152263.4(TPM3):c.83C>T (p.Ala28Val)
NM_152263.4(TPM3):c.854+1G>A rs113367027
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.88C>G (p.Gln30Glu) rs1160965388
NM_152263.4(TPM3):c.8A>C (p.Glu3Ala)
NM_152263.4(TPM3):c.8A>G (p.Glu3Gly)
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del
NM_152393.4(KLHL40):c.1007A>G (p.Asn336Ser) rs1225875238
NM_152393.4(KLHL40):c.1016A>G (p.Tyr339Cys)
NM_152393.4(KLHL40):c.104G>A (p.Cys35Tyr) rs866611021
NM_152393.4(KLHL40):c.1053C>A (p.His351Gln) rs61736693
NM_152393.4(KLHL40):c.1057A>C (p.Ser353Arg)
NM_152393.4(KLHL40):c.1090G>C (p.Ala364Pro) rs1559613938
NM_152393.4(KLHL40):c.1110C>A (p.Asn370Lys) rs201966674
NM_152393.4(KLHL40):c.1110C>G (p.Asn370Lys)
NM_152393.4(KLHL40):c.1111G>C (p.Glu371Gln) rs771203108
NM_152393.4(KLHL40):c.1118A>T (p.Asn373Ile) rs779105816
NM_152393.4(KLHL40):c.1132A>T (p.Met378Leu) rs1697280326
NM_152393.4(KLHL40):c.1136_1137delinsAA (p.Ser379Lys) rs2125844947
NM_152393.4(KLHL40):c.1153-3C>A rs767265252
NM_152393.4(KLHL40):c.1183A>G (p.Met395Val) rs199854093
NM_152393.4(KLHL40):c.1193T>G (p.Leu398Arg)
NM_152393.4(KLHL40):c.119G>A (p.Gly40Asp) rs1575218183
NM_152393.4(KLHL40):c.1231C>A (p.Leu411Ile)
NM_152393.4(KLHL40):c.1253G>T (p.Gly418Val) rs1697303545
NM_152393.4(KLHL40):c.125G>T (p.Arg42Leu) rs907216548
NM_152393.4(KLHL40):c.1263G>C (p.Glu421Asp) rs771421442
NM_152393.4(KLHL40):c.1279C>A (p.Arg427Ser)
NM_152393.4(KLHL40):c.1280G>A (p.Arg427His)
NM_152393.4(KLHL40):c.1294G>T (p.Val432Phe) rs759601864
NM_152393.4(KLHL40):c.1315T>A (p.Ser439Thr)
NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)
NM_152393.4(KLHL40):c.1340C>A (p.Pro447Gln) rs764077398
NM_152393.4(KLHL40):c.1370T>A (p.Val457Glu) rs1559614662
NM_152393.4(KLHL40):c.1372_1383del (p.Leu458_Met461del) rs1553680747
NM_152393.4(KLHL40):c.1373T>C (p.Leu458Pro) rs1697313619
NM_152393.4(KLHL40):c.1383G>C (p.Met461Ile) rs762113138
NM_152393.4(KLHL40):c.1407C>T (p.Gly469=) rs1575220363
NM_152393.4(KLHL40):c.140A>T (p.His47Leu) rs759817120
NM_152393.4(KLHL40):c.1412_1415delinsC (p.Gly471_Ser472delinsAla) rs1427058930
NM_152393.4(KLHL40):c.1418A>G (p.Asp473Gly) rs1697314863
NM_152393.4(KLHL40):c.1422-3C>A rs1697317994
NM_152393.4(KLHL40):c.1444G>A (p.Val482Ile)
NM_152393.4(KLHL40):c.1447T>C (p.Tyr483His)
NM_152393.4(KLHL40):c.1451A>T (p.Asp484Val) rs2125845564
NM_152393.4(KLHL40):c.148G>A (p.Val50Met) rs1004240706
NM_152393.4(KLHL40):c.148G>T (p.Val50Leu) rs1004240706
NM_152393.4(KLHL40):c.1499G>A (p.Arg500His)
NM_152393.4(KLHL40):c.1503_1504delinsCG (p.Leu502Val) rs2125845587
NM_152393.4(KLHL40):c.1504C>A (p.Leu502Ile) rs766195312
NM_152393.4(KLHL40):c.1513G>A (p.Ala505Thr)
NM_152393.4(KLHL40):c.1528G>A (p.Gly510Ser) rs2125845594
NM_152393.4(KLHL40):c.1532G>A (p.Arg511His)
NM_152393.4(KLHL40):c.1547C>T (p.Ala516Val)
NM_152393.4(KLHL40):c.1552G>A (p.Val518Ile) rs1697321354
NM_152393.4(KLHL40):c.1552G>T (p.Val518Phe) rs1697321354
NM_152393.4(KLHL40):c.1574G>C (p.Ser525Thr)
NM_152393.4(KLHL40):c.1598C>T (p.Thr533Ile) rs2125845619
NM_152393.4(KLHL40):c.1601A>G (p.Asp534Gly) rs1697322389
NM_152393.4(KLHL40):c.1607A>G (p.Lys536Arg)
NM_152393.4(KLHL40):c.1618T>A (p.Phe540Ile) rs2125846077
NM_152393.4(KLHL40):c.1624G>T (p.Ala542Ser) rs1434763715
NM_152393.4(KLHL40):c.1628T>C (p.Phe543Ser) rs2125846086
NM_152393.4(KLHL40):c.164G>A (p.Ser55Asn) rs1697260624
NM_152393.4(KLHL40):c.1727T>C (p.Val576Ala)
NM_152393.4(KLHL40):c.1755G>A (p.Arg585=)
NM_152393.4(KLHL40):c.1755del
NM_152393.4(KLHL40):c.1761C>G (p.Asn587Lys) rs34020089
NM_152393.4(KLHL40):c.1783G>A (p.Gly595Ser)
NM_152393.4(KLHL40):c.1792C>T (p.Arg598Trp) rs767572121
NM_152393.4(KLHL40):c.1793G>C (p.Arg598Pro) rs775821505
NM_152393.4(KLHL40):c.1801G>T (p.Ala601Ser) rs144659891
NM_152393.4(KLHL40):c.1814G>A (p.Gly605Asp)
NM_152393.4(KLHL40):c.1823T>C (p.Phe608Ser)
NM_152393.4(KLHL40):c.1834C>T (p.Arg612Trp)
NM_152393.4(KLHL40):c.1849_1850inv (p.Cys617His)
NM_152393.4(KLHL40):c.1854_1857del (p.Thr619fs) rs377241839
NM_152393.4(KLHL40):c.1858A>C (p.Lys620Gln) rs751003619
NM_152393.4(KLHL40):c.197C>T (p.Pro66Leu) rs200810691
NM_152393.4(KLHL40):c.221T>C (p.Leu74Pro)
NM_152393.4(KLHL40):c.22G>A (p.Ala8Thr) rs772847156
NM_152393.4(KLHL40):c.22_33del (p.Ala8_Gln11del) rs2125844451
NM_152393.4(KLHL40):c.23C>T (p.Ala8Val)
NM_152393.4(KLHL40):c.248C>T (p.Ala83Val) rs1246685748
NM_152393.4(KLHL40):c.269A>G (p.Tyr90Cys)
NM_152393.4(KLHL40):c.289G>T (p.Asp97Tyr)
NM_152393.4(KLHL40):c.295G>A (p.Ala99Thr) rs2125844586
NM_152393.4(KLHL40):c.344C>A (p.Ser115Tyr)
NM_152393.4(KLHL40):c.353C>T (p.Thr118Ile) rs2125844609
NM_152393.4(KLHL40):c.359G>C (p.Cys120Ser)
NM_152393.4(KLHL40):c.35G>C (p.Arg12Pro) rs748935246
NM_152393.4(KLHL40):c.361G>C (p.Val121Leu) rs201494537
NM_152393.4(KLHL40):c.379C>T (p.Arg127Cys) rs1259316854
NM_152393.4(KLHL40):c.412C>T (p.Arg138Cys) rs752541165
NM_152393.4(KLHL40):c.419G>C (p.Gly140Ala)
NM_152393.4(KLHL40):c.433T>A (p.Cys145Ser) rs781200087
NM_152393.4(KLHL40):c.439C>A (p.Arg147Ser)
NM_152393.4(KLHL40):c.458G>A (p.Arg153His)
NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)
NM_152393.4(KLHL40):c.499G>T (p.Ala167Ser) rs2125844665
NM_152393.4(KLHL40):c.518C>G (p.Ser173Trp) rs774662858
NM_152393.4(KLHL40):c.52C>G (p.Leu18Val) rs888481518
NM_152393.4(KLHL40):c.581T>A (p.Val194Glu) rs1250586231
NM_152393.4(KLHL40):c.595A>G (p.Met199Val) rs1697270672
NM_152393.4(KLHL40):c.598C>G (p.Arg200Gly) rs548002700
NM_152393.4(KLHL40):c.599G>A (p.Arg200Gln) rs1402508999
NM_152393.4(KLHL40):c.599G>T (p.Arg200Leu)
NM_152393.4(KLHL40):c.601T>C (p.Trp201Arg)
NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)
NM_152393.4(KLHL40):c.605C>G (p.Ala202Gly)
NM_152393.4(KLHL40):c.613G>A (p.Gly205Ser) rs746095931
NM_152393.4(KLHL40):c.613G>T (p.Gly205Cys) rs746095931
NM_152393.4(KLHL40):c.619G>C (p.Ala207Pro)
NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)
NM_152393.4(KLHL40):c.637C>G (p.Arg213Gly)
NM_152393.4(KLHL40):c.655A>G (p.Thr219Ala)
NM_152393.4(KLHL40):c.673C>T (p.Arg225Cys) rs1697271848
NM_152393.4(KLHL40):c.680G>C (p.Arg227Pro) rs750754016
NM_152393.4(KLHL40):c.680G>T (p.Arg227Leu) rs750754016
NM_152393.4(KLHL40):c.709C>T (p.Arg237Cys)
NM_152393.4(KLHL40):c.719G>A (p.Arg240His) rs894967112
NM_152393.4(KLHL40):c.719G>C (p.Arg240Pro)
NM_152393.4(KLHL40):c.730G>A (p.Val244Met) rs1310855261
NM_152393.4(KLHL40):c.752T>G (p.Leu251Arg) rs928500134
NM_152393.4(KLHL40):c.755_757del (p.Arg252_Lys253delinsGln)
NM_152393.4(KLHL40):c.761T>G (p.Val254Gly) rs1575218760
NM_152393.4(KLHL40):c.768G>C (p.Met256Ile)
NM_152393.4(KLHL40):c.776A>C (p.Asp259Ala) rs2125844799
NM_152393.4(KLHL40):c.77T>G (p.Met26Arg)
NM_152393.4(KLHL40):c.785A>T (p.Glu262Val) rs2125844806
NM_152393.4(KLHL40):c.799A>T (p.Thr267Ser)
NM_152393.4(KLHL40):c.821G>A (p.Gly274Glu)
NM_152393.4(KLHL40):c.851A>T (p.Asp284Val) rs1697275753
NM_152393.4(KLHL40):c.85C>T (p.His29Tyr) rs370340355
NM_152393.4(KLHL40):c.887AGG[1] (p.Glu297del) rs1575218907
NM_152393.4(KLHL40):c.892G>T (p.Ala298Ser) rs777146142
NM_152393.4(KLHL40):c.901A>G (p.Ile301Val)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152393.4(KLHL40):c.93G>T (p.Lys31Asn)
NM_152393.4(KLHL40):c.976G>A (p.Glu326Lys) rs1697277396
NM_152393.4(KLHL40):c.997C>G (p.Pro333Ala) rs1360434714
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.5(NDUFAF2):c.-23GC[3] rs886060725
NM_174889.5(NDUFAF2):c.128-14C>G rs537327206
NM_174889.5(NDUFAF2):c.136A>G (p.Ile46Val) rs1752321893
NM_175614.4(NDUFA11):c.*69_*70delGT rs755637853
NM_175614.4(NDUFA11):c.-205_-204CT[2] rs759857076
NM_175614.5(NDUFA11):c.*55G>C rs771648754
NM_175614.5(NDUFA11):c.-51T>G rs886054649
NM_175614.5(NDUFA11):c.104C>G (p.Thr35Ser) rs2057614252
NM_175614.5(NDUFA11):c.233C>T (p.Ala78Val) rs886054647
NM_175614.5(NDUFA11):c.234C>T (p.Ala78=) rs1345378776
NM_178554.6(KY):c.1895C>G (p.Ala632Gly)
NM_178554.6(KY):c.1901G>T (p.Cys634Phe) rs1012857901
NM_178554.6(KY):c.21C>G (p.Ile7Met)
NM_178554.6(KY):c.337+5G>T
NM_198271.5(LMOD3):c.1015A>G (p.Thr339Ala) rs1273623485
NM_198271.5(LMOD3):c.1030C>T (p.Arg344Trp) rs778824655
NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr)
NM_198271.5(LMOD3):c.1079T>C (p.Ile360Thr) rs1559661751
NM_198271.5(LMOD3):c.1081G>A (p.Ala361Thr) rs2092394013
NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg)
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del) rs727502798
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu) rs572092252
NM_198271.5(LMOD3):c.1111C>A (p.Leu371Met) rs546583536
NM_198271.5(LMOD3):c.1111C>G (p.Leu371Val) rs546583536
NM_198271.5(LMOD3):c.1130T>G (p.Phe377Cys) rs373483102
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala) rs2107526166
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile) rs758062503
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del) rs777461365
NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)
NM_198271.5(LMOD3):c.117G>C (p.Met39Ile) rs2092411983
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu) rs1286766855
NM_198271.5(LMOD3):c.1194G>C (p.Arg398Ser) rs1291539118
NM_198271.5(LMOD3):c.1196A>G (p.Gln399Arg) rs2092392939
NM_198271.5(LMOD3):c.1232A>G (p.Lys411Arg)
NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys) rs2107526085
NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr)
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr) rs2092392431
NM_198271.5(LMOD3):c.1259T>C (p.Leu420Ser) rs1553687786
NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala)
NM_198271.5(LMOD3):c.127G>A (p.Ala43Thr) rs2092411822
NM_198271.5(LMOD3):c.1280C>T (p.Pro427Leu) rs766271038
NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu)
NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn)
NM_198271.5(LMOD3):c.1332G>T (p.Gln444His) rs765589286
NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)
NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser) rs748532243
NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg)
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)
NM_198271.5(LMOD3):c.1379T>C (p.Val460Ala) rs1310959515
NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)
NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser)
NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys) rs2107525869
NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu) rs2092390552
NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly) rs769492984
NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp) rs769492984
NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser) rs749726841
NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys) rs749726841
NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu) rs780071005
NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)
NM_198271.5(LMOD3):c.149T>A (p.Val50Glu) rs2092411499
NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr) rs538402410
NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) rs2107525731
NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met) rs778825271
NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr) rs373480967
NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp) rs749113549
NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile) rs2092389118
NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala) rs2092389107
NM_198271.5(LMOD3):c.1606G>C (p.Asp536His) rs536143048
NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)
NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu) rs780274932
NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)
NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg) rs2092336742
NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)
NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr) rs2092336619
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) rs562551827
NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs) rs2092336582
NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?) rs1575869958
NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys) rs1559663262
NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr) rs1185485203
NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)
NM_198271.5(LMOD3):c.203A>G (p.His68Arg) rs752432695
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)
NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)
NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu) rs2092410842
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val) rs1289180080
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)
NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)
NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys)
NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp)
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser) rs1392468825
NM_198271.5(LMOD3):c.390T>G (p.Asn130Lys) rs190846774
NM_198271.5(LMOD3):c.400T>C (p.Ser134Pro) rs1283065889
NM_198271.5(LMOD3):c.403A>C (p.Lys135Gln)
NM_198271.5(LMOD3):c.410G>A (p.Ser137Asn) rs1452040409
NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn) rs2092399518
NM_198271.5(LMOD3):c.413G>T (p.Ser138Ile) rs2092399518
NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn)
NM_198271.5(LMOD3):c.432TGAAGAAGA[1] (p.144DEE[1]) rs1179727503
NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)
NM_198271.5(LMOD3):c.43G>C (p.Asp15His) rs762330680
NM_198271.5(LMOD3):c.441_443del (p.Asp147del) rs2107526849
NM_198271.5(LMOD3):c.441_446del (p.Asp147_Glu148del)
NM_198271.5(LMOD3):c.444AGA[2] (p.Glu150_Glu151del) rs753459417
NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del) rs753459417
NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del) rs2092399265
NM_198271.5(LMOD3):c.456T>A (p.Asp152Glu) rs1388186593
NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp)
NM_198271.5(LMOD3):c.456TGA[7] (p.Asp155_Asp157dup) rs752238157
NM_198271.5(LMOD3):c.468C>A (p.Asp156Glu) rs537602397
NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del) rs759855873
NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del) rs770015687
NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp)
NM_198271.5(LMOD3):c.481G>A (p.Asp161Asn) rs1019240148
NM_198271.5(LMOD3):c.506C>G (p.Thr169Arg) rs181564355
NM_198271.5(LMOD3):c.521A>T (p.Glu174Val) rs1559662229
NM_198271.5(LMOD3):c.523G>A (p.Gly175Ser) rs2092398483
NM_198271.5(LMOD3):c.53T>C (p.Ile18Thr)
NM_198271.5(LMOD3):c.545G>T (p.Arg182Ile) rs2107526736
NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp)
NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr)
NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser) rs769663073
NM_198271.5(LMOD3):c.611A>T (p.Glu204Val) rs2107526679
NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn)
NM_198271.5(LMOD3):c.640T>G (p.Ser214Ala)
NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu)
NM_198271.5(LMOD3):c.667C>G (p.Leu223Val) rs2092397307
NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly) rs898638017
NM_198271.5(LMOD3):c.685A>G (p.Lys229Glu) rs2107526606
NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile) rs2107526596
NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly) rs905218627
NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys) rs2107526531
NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro) rs1553687898
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr) rs9835034
NM_198271.5(LMOD3):c.806A>G (p.Glu269Gly) rs2107526495
NM_198271.5(LMOD3):c.839A>G (p.Lys280Arg) rs1435079305
NM_198271.5(LMOD3):c.862A>C (p.Ser288Arg) rs2092395759
NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr)
NM_198271.5(LMOD3):c.875T>C (p.Val292Ala) rs1575880432
NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala) rs1314021691
NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu) rs2092395041
NM_198271.5(LMOD3):c.976G>C (p.Gly326Arg) rs2107526347
NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr)
NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr)
NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)
NM_198859.3(PRICKLE2):c.[443G>A;457G>A]
NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys)
NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His) rs147289291
NM_198859.4(PRICKLE2):c.1007G>T (p.Arg336Leu) rs147289291
NM_198859.4(PRICKLE2):c.1010G>A (p.Ser337Asn) rs750388947
NM_198859.4(PRICKLE2):c.1010G>C (p.Ser337Thr) rs750388947
NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser)
NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg)
NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys)
NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp)
NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro)
NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His) rs2077472798
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys) rs772212890
NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp)
NM_198859.4(PRICKLE2):c.1198C>T (p.Pro400Ser)
NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe)
NM_198859.4(PRICKLE2):c.1241G>A (p.Ser414Asn) rs2077471786
NM_198859.4(PRICKLE2):c.1288C>T (p.Pro430Ser)
NM_198859.4(PRICKLE2):c.1310C>T (p.Ala437Val) rs769254046
NM_198859.4(PRICKLE2):c.1316C>T (p.Pro439Leu) rs2107015374
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys) rs770462303
NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp)
NM_198859.4(PRICKLE2):c.1330A>G (p.Lys444Glu)
NM_198859.4(PRICKLE2):c.1352G>A (p.Arg451Lys) rs2077469469
NM_198859.4(PRICKLE2):c.1369A>C (p.Met457Leu) rs2107015250
NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val)
NM_198859.4(PRICKLE2):c.1414T>C (p.Tyr472His)
NM_198859.4(PRICKLE2):c.1421C>T (p.Pro474Leu) rs1292913892
NM_198859.4(PRICKLE2):c.144+6A>G rs2107115161
NM_198859.4(PRICKLE2):c.1445G>A (p.Ser482Asn) rs2107015068
NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp)
NM_198859.4(PRICKLE2):c.1514AGGAAG[2] (p.Glu509_Glu510del) rs759955615
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu) rs755987796
NM_198859.4(PRICKLE2):c.1534G>T (p.Gly512Cys)
NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala)
NM_198859.4(PRICKLE2):c.1556G>A (p.Arg519Gln)
NM_198859.4(PRICKLE2):c.1562G>A (p.Arg521His)
NM_198859.4(PRICKLE2):c.1621C>T (p.Arg541Trp) rs372400638
NM_198859.4(PRICKLE2):c.1622G>A (p.Arg541Gln)
NM_198859.4(PRICKLE2):c.1625G>T (p.Gly542Val)
NM_198859.4(PRICKLE2):c.163T>A (p.Cys55Ser) rs781210176
NM_198859.4(PRICKLE2):c.163T>C (p.Cys55Arg) rs781210176
NM_198859.4(PRICKLE2):c.1643C>A (p.Ala548Asp)
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del)
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala) rs749378051
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr)
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu)
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met)
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu) rs2076625828
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp)
NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu)
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp) rs768820914
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His)
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp)
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys) rs2076625078
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr) rs2076624835
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del) rs2076624394
NM_198859.4(PRICKLE2):c.188A>T (p.Tyr63Phe) rs2077761285
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro) rs775727925
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu)
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser)
NM_198859.4(PRICKLE2):c.1916T>A (p.Met639Lys)
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg) rs2076623046
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val) rs894055397
NM_198859.4(PRICKLE2):c.1949C>A (p.Ala650Glu)
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val) rs747788121
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala)
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp) rs2076622017
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His)
NM_198859.4(PRICKLE2):c.2008C>T (p.Arg670Trp)
NM_198859.4(PRICKLE2):c.2009G>A (p.Arg670Gln)
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro) rs747542060
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala)
NM_198859.4(PRICKLE2):c.2029G>A (p.Asp677Asn)
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro) rs1308230146
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His)
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys)
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser) rs2076619764
NM_198859.4(PRICKLE2):c.2091C>A (p.Asn697Lys)
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His)
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr)
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn) rs2076618722
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe)
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu) rs772696632
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) rs1559550002
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn)
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys)
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys) rs780553569
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu)
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp) rs2076617456
NM_198859.4(PRICKLE2):c.2218T>C (p.Ser740Pro)
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln)
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys) rs1387331875
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val) rs1248829595
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala) rs2106935115
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr)
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro) rs2106935074
NM_198859.4(PRICKLE2):c.2296G>A (p.Gly766Arg)
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val)
NM_198859.4(PRICKLE2):c.2313_2318del (p.Glu771_Tyr772del)
NM_198859.4(PRICKLE2):c.2322G>C (p.Trp774Cys)
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys) rs2076614473
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe)
NM_198859.4(PRICKLE2):c.234C>G (p.His78Gln) rs755337354
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser) rs775899030
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys) rs765451868
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu)
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His)
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=)
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg)
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg) rs2106934819
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu)
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn)
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.4(PRICKLE2):c.2464T>C (p.Ser822Pro)
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg) rs2106934728
NM_198859.4(PRICKLE2):c.2477G>A (p.Gly826Asp)
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg)
NM_198859.4(PRICKLE2):c.258+5G>A rs1368875653
NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln)
NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro) rs2077706388
NM_198859.4(PRICKLE2):c.340G>A (p.Gly114Ser)
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys) rs752616529
NM_198859.4(PRICKLE2):c.346G>A (p.Gly116Arg)
NM_198859.4(PRICKLE2):c.352G>A (p.Val118Ile) rs2107039561
NM_198859.4(PRICKLE2):c.356G>C (p.Arg119Thr) rs2077705419
NM_198859.4(PRICKLE2):c.374T>C (p.Met125Thr)
NM_198859.4(PRICKLE2):c.379G>A (p.Gly127Arg)
NM_198859.4(PRICKLE2):c.384_385delinsCT (p.Ile129Phe) rs2107039475
NM_198859.4(PRICKLE2):c.391G>A (p.Glu131Lys) rs1334482107
NM_198859.4(PRICKLE2):c.396+5G>A rs2107039424
NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met)
NM_198859.4(PRICKLE2):c.40A>G (p.Ser14Gly)
NM_198859.4(PRICKLE2):c.413A>T (p.Asn138Ile) rs1247504361
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu) rs762381874
NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)
NM_198859.4(PRICKLE2):c.445G>A (p.Ala149Thr) rs202025796
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys)
NM_198859.4(PRICKLE2):c.490G>A (p.Val164Ile) rs886058801
NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val) rs762452354
NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg)
NM_198859.4(PRICKLE2):c.541A>T (p.Ile181Leu) rs1047934663
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.4(PRICKLE2):c.569G>A (p.Cys190Tyr)
NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu)
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.4(PRICKLE2):c.586G>A (p.Ala196Thr)
NM_198859.4(PRICKLE2):c.589G>A (p.Ala197Thr) rs2107034360
NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu)
NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val) rs2077576258
NM_198859.4(PRICKLE2):c.653A>G (p.Lys218Arg) rs2077576224
NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg)
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.4(PRICKLE2):c.683T>C (p.Val228Ala) rs2077575900
NM_198859.4(PRICKLE2):c.698G>C (p.Arg233Pro)
NM_198859.4(PRICKLE2):c.708G>C (p.Met236Ile) rs2077575497
NM_198859.4(PRICKLE2):c.721C>A (p.Pro241Thr) rs2077575277
NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn)
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu) rs763876127
NM_198859.4(PRICKLE2):c.742G>A (p.Glu248Lys)
NM_198859.4(PRICKLE2):c.781C>T (p.His261Tyr) rs2107026575
NM_198859.4(PRICKLE2):c.793G>A (p.Asp265Asn) rs1312810720
NM_198859.4(PRICKLE2):c.860A>G (p.His287Arg) rs1201078531
NM_198859.4(PRICKLE2):c.883C>T (p.Arg295Trp)
NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln)
NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu)
NM_198859.4(PRICKLE2):c.907C>G (p.Gln303Glu)
NM_198859.4(PRICKLE2):c.913T>G (p.Phe305Val) rs2077478096
NM_198859.4(PRICKLE2):c.920C>G (p.Ser307Ter) rs2077478027
NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala)
NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser)
NM_198859.4(PRICKLE2):c.983A>G (p.Asn328Ser) rs2107016123
NM_198859.4(PRICKLE2):c.985G>C (p.Ala329Pro) rs1447125975
NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly) rs2078512537
NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val)
NM_198859.4(PRICKLE2):c.991G>A (p.Ala331Thr) rs1406891675
NM_198859.4(PRICKLE2):c.991G>C (p.Ala331Pro) rs1406891675
NM_199069.1(NDUFAF3):c.-118G>A rs886058666
NM_199069.1(NDUFAF3):c.-143A>T rs2093162490
NM_199069.1(NDUFAF3):c.-369C>T rs886058664
NM_199069.1(NDUFAF3):c.-370A>G rs886058663
NM_199069.1(NDUFAF3):c.-489T>C rs886058662
NM_199069.1(NDUFAF3):c.-503G>A rs774579592
NM_199069.1(NDUFAF3):c.-503G>C rs774579592
NM_199069.2(NDUFAF3):c.*194G>C rs78116829
NM_199069.2(NDUFAF3):c.205A>T (p.Met69Leu) rs2093169670
NM_199069.2(NDUFAF3):c.38C>T (p.Ala13Val) rs886058667
NM_199069.2(NDUFAF3):c.536T>C (p.Leu179Ser) rs1378867079
NM_199069.2(NDUFAF3):c.550C>T (p.Gln184Ter) rs527841371
NM_213674.1(TPM2):c.-118G>A rs986048371
NM_213674.1(TPM2):c.-142C>T rs1825166266
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943
NM_213720.3(CHCHD10):c.101C>T (p.Pro34Leu)
NM_213720.3(CHCHD10):c.103G>A (p.Ala35Thr)
NM_213720.3(CHCHD10):c.104C>A (p.Ala35Asp)
NM_213720.3(CHCHD10):c.109G>A (p.Ala37Thr) rs752472094
NM_213720.3(CHCHD10):c.116C>T (p.Ser39Leu) rs1569151061
NM_213720.3(CHCHD10):c.119G>T (p.Gly40Val)
NM_213720.3(CHCHD10):c.11del (p.Gly4fs)
NM_213720.3(CHCHD10):c.137C>A (p.Ala46Asp)
NM_213720.3(CHCHD10):c.146C>T (p.Ala49Val)
NM_213720.3(CHCHD10):c.157G>T (p.Ala53Ser)
NM_213720.3(CHCHD10):c.161G>A (p.Gly54Glu)
NM_213720.3(CHCHD10):c.16C>A (p.Arg6Ser)
NM_213720.3(CHCHD10):c.181G>A (p.Val61Met)
NM_213720.3(CHCHD10):c.190G>A (p.Val64Ile) rs781304084
NM_213720.3(CHCHD10):c.197G>A (p.Gly66Asp) rs730880031
NM_213720.3(CHCHD10):c.200G>A (p.Ser67Asn) rs1926926045
NM_213720.3(CHCHD10):c.203C>T (p.Ala68Val) rs1926925550
NM_213720.3(CHCHD10):c.211G>A (p.Gly71Arg) rs2145926804
NM_213720.3(CHCHD10):c.214G>C (p.Ala72Pro) rs542541060
NM_213720.3(CHCHD10):c.215C>T (p.Ala72Val)
NM_213720.3(CHCHD10):c.221G>A (p.Ser74Asn)
NM_213720.3(CHCHD10):c.224G>A (p.Gly75Glu) rs767069606
NM_213720.3(CHCHD10):c.235G>A (p.Glu79Lys) rs1555925855
NM_213720.3(CHCHD10):c.241T>C (p.Ser81Pro)
NM_213720.3(CHCHD10):c.244C>T (p.Gln82Ter)
NM_213720.3(CHCHD10):c.250G>C (p.Ala84Pro)
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NM_213720.3(CHCHD10):c.261+11_261+12delinsGC
NM_213720.3(CHCHD10):c.262-11T>A
NM_213720.3(CHCHD10):c.262-3C>G rs867521564
NM_213720.3(CHCHD10):c.262-4C>G
NM_213720.3(CHCHD10):c.262-7C>A
NM_213720.3(CHCHD10):c.262G>T (p.Ala88Ser) rs1926806684
NM_213720.3(CHCHD10):c.263C>A (p.Ala88Asp) rs564469294
NM_213720.3(CHCHD10):c.273C>A (p.Pro91=)
NM_213720.3(CHCHD10):c.274del (p.Ala92fs)
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.283C>T (p.Gln95Ter) rs1926798746
NM_213720.3(CHCHD10):c.287C>G (p.Pro96Arg) rs1348340557
NM_213720.3(CHCHD10):c.2T>G (p.Met1Arg) rs1926995828
NM_213720.3(CHCHD10):c.302C>T (p.Pro101Leu) rs776781535
NM_213720.3(CHCHD10):c.306C>G (p.Cys102Trp)
NM_213720.3(CHCHD10):c.307G>A (p.Ala103Thr)
NM_213720.3(CHCHD10):c.308C>T (p.Ala103Val) rs2145924358
NM_213720.3(CHCHD10):c.312C>A (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.312C>G (p.Tyr104Ter) rs9153
NM_213720.3(CHCHD10):c.313G>A (p.Glu105Lys)
NM_213720.3(CHCHD10):c.31C>G (p.Arg11Gly) rs951686050
NM_213720.3(CHCHD10):c.322C>A (p.Gln108Lys)
NM_213720.3(CHCHD10):c.322C>T (p.Gln108Ter)
NM_213720.3(CHCHD10):c.331G>A (p.Asp111Asn)
NM_213720.3(CHCHD10):c.332A>G (p.Asp111Gly) rs750293377
NM_213720.3(CHCHD10):c.334T>C (p.Cys112Arg) rs964013488
NM_213720.3(CHCHD10):c.349A>T (p.Ser117Cys) rs931085449
NM_213720.3(CHCHD10):c.350G>A (p.Ser117Asn) rs1926782349
NM_213720.3(CHCHD10):c.359C>T (p.Ser120Phe)
NM_213720.3(CHCHD10):c.364T>C (p.Cys122Arg)
NM_213720.3(CHCHD10):c.377G>A (p.Ser126Asn) rs1601354726
NM_213720.3(CHCHD10):c.379G>A (p.Glu127Lys)
NM_213720.3(CHCHD10):c.37G>A (p.Ala13Thr)
NM_213720.3(CHCHD10):c.386T>C (p.Leu129Pro) rs1569149526
NM_213720.3(CHCHD10):c.389A>G (p.Lys130Arg) rs2145924084
NM_213720.3(CHCHD10):c.38C>T (p.Ala13Val) rs1926990244
NM_213720.3(CHCHD10):c.394dup (p.Cys132fs)
NM_213720.3(CHCHD10):c.395G>A (p.Cys132Tyr)
NM_213720.3(CHCHD10):c.402C>A (p.Tyr134Ter)
NM_213720.3(CHCHD10):c.41+8G>T
NM_213720.3(CHCHD10):c.410-3C>G
NM_213720.3(CHCHD10):c.410-3C>T rs767630947
NM_213720.3(CHCHD10):c.42-6C>G
NM_213720.3(CHCHD10):c.424C>A (p.Pro142Thr) rs1294246273
NM_213720.3(CHCHD10):c.42C>T (p.Ser14=) rs1447212146
NM_213720.3(CHCHD10):c.43C>T (p.Arg15Cys)
NM_213720.3(CHCHD10):c.44G>A (p.Arg15His) rs730880030
NM_213720.3(CHCHD10):c.55C>T (p.Pro19Ser) rs1926950297
NM_213720.3(CHCHD10):c.67C>A (p.Pro23Thr)
NM_213720.3(CHCHD10):c.70C>T (p.Pro24Ser) rs917149626
NM_213720.3(CHCHD10):c.76C>A (p.His26Asn)
NM_213720.3(CHCHD10):c.77A>G (p.His26Arg)
NM_213720.3(CHCHD10):c.86C>T (p.Pro29Leu)
NM_213720.3(CHCHD10):c.89C>G (p.Ser30Trp)
NM_213720.3(CHCHD10):c.8G>C (p.Arg3Pro) rs766426370
NM_213720.3(CHCHD10):c.92C>T (p.Ala31Val)
NM_213720.3(CHCHD10):c.97G>C (p.Ala33Pro)
NM_213720.3(CHCHD10):c.97G>T (p.Ala33Ser)
NR_038272.1(TTN-AS1):n.450del
NR_186857.1(ORAI1):n.230_240del
NR_186857.1(ORAI1):n.281CCA[3]
NR_186857.1(ORAI1):n.296_329dup
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.