ClinVar Miner

List of variants studied for TPM3-related myopathy

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1156
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.455-53A>C rs527621 0.99850
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_152263.4(TPM3):c.776-49T>C rs4845364 0.62465
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_152263.4(TPM3):c.*2185C>T rs10908723 0.31228
NM_152263.4(TPM3):c.*4968A>G rs4446955 0.30357
NM_152263.4(TPM3):c.*1032T>G rs6673171 0.29627
NM_152263.4(TPM3):c.*5856T>G rs3196889 0.29506
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_152263.4(TPM3):c.*3248G>A rs12026177 0.15247
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_152263.4(TPM3):c.*2719G>A rs11265201 0.14345
NM_152263.4(TPM3):c.*2565G>A rs6661996 0.14338
NM_152263.4(TPM3):c.*2784C>T rs9628669 0.14320
NM_152263.4(TPM3):c.*3822G>T rs12063890 0.13205
NM_152263.4(TPM3):c.*2211A>C rs6672584 0.12577
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_152263.4(TPM3):c.*389G>A rs74731791 0.01922
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_152263.4(TPM3):c.*2409G>C rs142369480 0.01426
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_152263.4(TPM3):c.*1791G>A rs114799756 0.01222
NM_152263.4(TPM3):c.*4333A>G rs34629044 0.01027
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_152263.4(TPM3):c.*4062G>A rs140590273 0.00864
NM_152263.4(TPM3):c.*5149G>A rs78002555 0.00816
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_000540.3(RYR1):c.-69T>G rs886054377 0.00582
NM_152263.4(TPM3):c.*4154C>T rs145053113 0.00572
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_152263.4(TPM3):c.*3497T>C rs144544045 0.00465
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_000257.4(MYH7):c.3972+16G>A rs114978322 0.00424
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_152263.4(TPM3):c.*878A>G rs116789181 0.00321
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_152263.4(TPM3):c.*780A>G rs185779007 0.00287
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_020451.3(SELENON):c.1645G>A (p.Val549Met) rs147131452 0.00268
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_152263.4(TPM3):c.*5640C>T rs564296987 0.00257
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_152263.4(TPM3):c.*656C>T rs12064261 0.00233
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_152263.4(TPM3):c.*4876C>T rs141628385 0.00178
NM_152263.4(TPM3):c.*3819G>A rs190553185 0.00168
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_152263.4(TPM3):c.*4095G>A rs559852699 0.00145
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_152263.4(TPM3):c.*5440A>C rs12064494 0.00136
NM_152263.4(TPM3):c.*5577C>T rs886045287 0.00129
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_152263.4(TPM3):c.*4806A>C rs186291812 0.00093
NM_000540.3(RYR1):c.7836-19C>T rs201378267 0.00090
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_152263.4(TPM3):c.*2152C>T rs1363684144 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
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_152263.4(TPM3):c.*3756C>A rs555633635 0.00060
NM_000540.3(RYR1):c.13022C>T (p.Thr4341Met) rs752855919 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_152263.4(TPM3):c.*999G>A rs565913061 0.00057
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr) rs201692549 0.00054
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_152263.4(TPM3):c.*157C>T rs144482403 0.00047
NM_152263.4(TPM3):c.*4302A>G rs886045298 0.00047
NM_152263.4(TPM3):c.*1077A>C rs557217738 0.00045
NM_000540.3(RYR1):c.12842G>A (p.Gly4281Glu) rs754173025 0.00039
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_000540.3(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684 0.00035
NM_152263.4(TPM3):c.*6097G>T rs576691614 0.00035
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_152263.4(TPM3):c.*2138T>C rs566002553 0.00031
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_020451.3(SELENON):c.4G>T (p.Gly2Cys) rs982364753 0.00028
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
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_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_152263.4(TPM3):c.*4443G>T rs139123540 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_152263.4(TPM3):c.*4541T>A rs886045294 0.00024
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643 0.00023
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_152263.4(TPM3):c.*5755A>G rs777522493 0.00022
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_152263.4(TPM3):c.*962C>T rs564047493 0.00021
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg) rs147918857 0.00019
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152263.4(TPM3):c.*5701C>T rs373631033 0.00018
NM_000540.3(RYR1):c.4237G>A (p.Asp1413Asn) rs139142846 0.00016
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met) rs776194441 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_152263.4(TPM3):c.665A>T (p.Tyr222Phe) rs142817656 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.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_152263.4(TPM3):c.*5658G>A rs547577437 0.00015
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 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.9634G>A (p.Glu3212Lys) rs185371036 0.00014
NM_152263.4(TPM3):c.*482C>T rs886045313 0.00014
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.6721C>T (p.Arg2241Ter) rs200563280 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_000540.3(RYR1):c.7904A>T (p.Glu2635Val) rs755651622 0.00012
NM_152263.4(TPM3):c.*1661C>T rs575927755 0.00012
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr) rs372727092 0.00011
NM_000257.4(MYH7):c.5656-4G>A rs397516250 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.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_152263.4(TPM3):c.*32C>T rs141699072 0.00011
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 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_152263.4(TPM3):c.*3481C>T rs753333464 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 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_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.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.4910C>T (p.Ala1637Val) rs569890286 0.00009
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_152263.4(TPM3):c.*2015T>C rs758111582 0.00009
NM_152263.4(TPM3):c.*5795C>T rs981377315 0.00009
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.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_152263.4(TPM3):c.*4924C>T rs1036320708 0.00008
NM_152263.4(TPM3):c.*5500C>G rs973966350 0.00008
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=) rs767496164 0.00007
NM_000540.3(RYR1):c.12629A>G (p.Lys4210Arg) rs138932463 0.00007
NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu) rs201054455 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.8342T>C (p.Ile2781Thr) rs767805554 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_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 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_000540.3(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100 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.10803C>T (p.Ala3601=) rs141542477 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.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 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.2594A>T (p.His865Leu) rs371862065 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.5384C>T (p.Pro1795Leu) rs141379562 0.00006
NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile) rs193922795 0.00006
NM_000540.3(RYR1):c.6891+3G>T rs373333757 0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00006
NM_000540.3(RYR1):c.7336G>A (p.Gly2446Ser) rs375148516 0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=) rs749322590 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.9731C>T (p.Pro3244Leu) rs966321446 0.00006
NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys) rs754431075 0.00006
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_152263.4(TPM3):c.*1967C>T rs910205963 0.00006
NM_152263.4(TPM3):c.144G>A (p.Gln48=) rs765923858 0.00006
NM_152263.4(TPM3):c.60G>A (p.Leu20=) rs770751758 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 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.67C>T (p.Arg23Trp) rs730880828 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000540.3(RYR1):c.14563G>T (p.Val4855Leu) rs528225943 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.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 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.4931A>G (p.Asn1644Ser) rs1057519109 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.9874C>T (p.Pro3292Ser) rs144135230 0.00005
NM_020451.3(SELENON):c.1A>G (p.Met1Val) rs121908184 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_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp) rs747198710 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu) rs767000995 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.924C>T (p.Tyr308=) rs762065412 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.11763C>A (p.Tyr3921Ter) rs377178986 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.12813C>T (p.Gly4271=) rs750757411 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.13465C>T (p.Pro4489Ser) rs781766697 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val) rs143988412 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.2659G>A (p.Glu887Lys) rs766827383 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.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.4217C>T (p.Thr1406Met) rs187496208 0.00004
NM_000540.3(RYR1):c.4270G>A (p.Glu1424Lys) rs543630280 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.5340_5341del (p.Cys1781fs) rs779723153 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.872C>T (p.Ala291Val) rs200572262 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_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.36G>A (p.Leu12=) rs748116674 0.00004
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 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.4894G>A (p.Ala1632Thr) rs565663412 0.00003
NM_000257.4(MYH7):c.639+5G>T rs765724983 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000540.3(RYR1):c.10927A>C (p.Asn3643His) rs924687841 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.12878C>T (p.Ala4293Val) rs1223090052 0.00003
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met) rs1236057233 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.13774G>A (p.Asp4592Asn) rs572103362 0.00003
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00003
NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) rs118192153 0.00003
NM_000540.3(RYR1):c.1925+19G>A rs764074598 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.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.4415C>T (p.Thr1472Met) rs1318296270 0.00003
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr) rs118192120 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.6343G>A (p.Glu2115Lys) rs147197176 0.00003
NM_000540.3(RYR1):c.6838G>T (p.Val2280Phe) rs193922797 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.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.9457G>A (p.Gly3153Arg) rs779410371 0.00003
NM_000540.3(RYR1):c.9586C>T (p.Arg3196Cys) rs766362010 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000540.3(RYR1):c.9860G>A (p.Arg3287His) rs756487708 0.00003
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 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_152263.4(TPM3):c.706-8T>G rs1273121877 0.00003
NM_152263.4(TPM3):c.831C>T (p.His277=) rs781032589 0.00003
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.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val) rs369935820 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln) rs727504342 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val) rs1195157116 0.00002
NM_000257.4(MYH7):c.4953+14G>A rs758571263 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 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.925G>A (p.Asp309Asn) rs730880923 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.11091C>T (p.Pro3697=) rs201296563 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.11600G>A (p.Arg3867His) rs758651267 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.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.1372T>G (p.Leu458Val) rs369932139 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.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 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.2787-16A>G rs998030731 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.3877C>A (p.Pro1293Thr) rs146407179 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.4674dup (p.Asn1559fs) rs759632485 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.49G>A (p.Asp17Asn) rs755878800 0.00002
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr) rs763360938 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.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp) rs761154999 0.00002
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803 0.00002
NM_000540.3(RYR1):c.7154G>A (p.Arg2385His) rs768343466 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.7897C>G (p.Leu2633Val) rs757228479 0.00002
NM_000540.3(RYR1):c.8137G>A (p.Asp2713Asn) rs765571437 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.9892G>A (p.Ala3298Thr) rs544339193 0.00002
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_020451.3(SELENON):c.988C>T (p.Arg330Trp) rs1489695877 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.231G>A (p.Lys77=) rs761461964 0.00002
NM_152263.4(TPM3):c.234G>A (p.Lys78=) rs888396890 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152263.4(TPM3):c.777T>C (p.Asp259=) rs767812868 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_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00001
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn) rs780785242 0.00001
NM_000257.4(MYH7):c.1257+7C>A rs759480696 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 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.2155C>T (p.Arg719Trp) rs121913637 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.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.268A>G (p.Met90Val) rs769054108 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn) rs727504388 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.3711G>A (p.Gln1237=) rs1361182615 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 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.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.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile) rs730880795 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 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.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.5386C>T (p.Arg1796Trp) rs748598020 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 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.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala) rs1295948508 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.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln) rs1169518192 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr) rs775643803 0.00001
NM_000257.4(MYH7):c.969T>G (p.Ile323Met) rs730880861 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.10459G>A (p.Gly3487Ser) rs371645169 0.00001
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 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.11590+1G>T rs113928116 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.12218C>T (p.Ser4073Phe) rs763042731 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.12406C>A (p.Arg4136Ser) rs193922849 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.12962G>A (p.Arg4321Gln) rs1313365429 0.00001
NM_000540.3(RYR1):c.13039G>A (p.Gly4347Ser) rs1568583100 0.00001
NM_000540.3(RYR1):c.13111G>A (p.Ala4371Thr) rs1337566743 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.13484C>T (p.Pro4495Leu) rs138929547 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13548G>C (p.Glu4516Asp) rs1057520187 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+1G>A rs142929172 0.00001
NM_000540.3(RYR1):c.14130-2A>G rs1457662393 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.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14869-5C>G rs1199304403 0.00001
NM_000540.3(RYR1):c.15022-14A>G rs1355487795 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys) rs757284447 0.00001
NM_000540.3(RYR1):c.1967C>T (p.Thr656Met) rs4802472 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 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.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp) rs371050482 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.2931G>A (p.Thr977=) rs771471004 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.3371A>G (p.Asn1124Ser) rs377285238 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.3826T>A (p.Trp1276Arg) rs754104129 0.00001
NM_000540.3(RYR1):c.3901C>T (p.Arg1301Cys) rs745920741 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 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.46-5C>T rs774388278 0.00001
NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala) rs1386118815 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.5009G>A (p.Arg1670His) rs1248039154 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 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.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.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6554T>C (p.Ile2185Thr) rs1186616874 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 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.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys) rs923613797 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.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.7843C>T (p.Arg2615Cys) rs1222041246 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu) rs568662364 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.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.8991C>A (p.Phe2997Leu) rs1377413977 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.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg) rs370851939 0.00001
NM_000540.3(RYR1):c.9559C>T (p.Arg3187Trp) rs1376794459 0.00001
NM_000540.3(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232 0.00001
NM_000540.3(RYR1):c.9706G>A (p.Val3236Met) rs771264217 0.00001
NM_000540.3(RYR1):c.9989A>G (p.Asp3330Gly) rs529012478 0.00001
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter) rs778603129 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 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.*4940C>G rs562373211 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.172C>T (p.Leu58=) rs997905094 0.00001
NM_152263.4(TPM3):c.210G>A (p.Glu70=) rs767668245 0.00001
NM_152263.4(TPM3):c.228G>A (p.Glu76=) rs765071258 0.00001
NM_152263.4(TPM3):c.246T>C (p.Ala82=) rs751578993 0.00001
NM_152263.4(TPM3):c.339G>A (p.Lys113=) rs548951753 0.00001
NM_152263.4(TPM3):c.340C>T (p.Leu114=) rs760913266 0.00001
NM_152263.4(TPM3):c.483G>A (p.Arg161=) rs150586027 0.00001
NM_152263.4(TPM3):c.546A>G (p.Glu182=) rs762856025 0.00001
NM_152263.4(TPM3):c.567-4A>C rs199517163 0.00001
NM_152263.4(TPM3):c.615C>G (p.Leu205=) rs1131561 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.705+19T>C rs765448962 0.00001
NM_152263.4(TPM3):c.761T>C (p.Ile254Thr) rs761036509 0.00001
NM_152263.4(TPM3):c.776-8C>T rs760834004 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.816C>T (p.Ser272=) 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.849C>T (p.Thr283=) rs758366885 0.00001
NM_152263.4(TPM3):c.853A>G (p.Ile285Val) rs758557977 0.00001
NM_152263.4(TPM3):c.854+20G>A rs1300002756 0.00001
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser) rs199474720 0.00001
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser) rs1197412497 0.00001
NC_000001.10:g.(?_154140413)_(154164494_?)dup
NC_000001.10:g.(?_154141771)_(154148734_?)del
NC_000001.10:g.(?_154148571)_(154148744_?)dup
NC_000001.10:g.(?_154163642)_(154164494_?)del
NC_000001.11:g.(?_154191166)_(154192038_?)del
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln) rs587783772
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val) rs730880873
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2053del (p.Asp685fs) rs1566532860
NM_000257.4(MYH7):c.2192C>G (p.Pro731Arg) rs1247313340
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr) rs769396106
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.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr) rs1566530777
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
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.2923-6C>A rs587781082
NM_000257.4(MYH7):c.2923G>A (p.Val975Met) rs1892576769
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) rs1892572355
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu) rs1000681552
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg) rs763760498
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=) rs746453011
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.3237G>C (p.Arg1079=) rs1272236852
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His) rs375323916
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) rs933857323
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA rs1892420744
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn) rs730880780
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His) rs1361182615
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
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.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=) rs763934978
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=) rs2138645345
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
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.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.4834C>G (p.Leu1612Val) rs397516229
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.4953+4C>T rs933520031
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu) rs1006534868
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val) rs397516240
NM_000257.4(MYH7):c.5333A>C (p.His1778Pro) rs1892139406
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.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) rs28933098
NM_000257.4(MYH7):c.5560-2A>C rs1566521710
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys) rs1057522617
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile) rs2138635423
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg) rs878853843
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_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.499T>C (p.Ter167Gln) rs2071647433
NM_000540.3(RYR1):c.-74A>C rs886054375
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp) rs147058802
NM_000540.3(RYR1):c.11014C>A (p.Arg3672Ser) rs765145018
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.112G>A (p.Ala38Thr) rs377558801
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.3(RYR1):c.119G>C (p.Gly40Ala) rs2145320724
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12047T>C (p.Leu4016Pro) rs1972430121
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr) rs118192117
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12218_12219delinsTA (p.Ser4073Leu) rs1568562966
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12349_12350delinsAT (p.Asp4117Ile) rs1568575693
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
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.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.12846C>T (p.Leu4282=) rs1184700540
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.12955C>T (p.Arg4319Trp) rs1973350586
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3]) rs1036726331
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.13104G>A (p.Val4368=) rs1357186643
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.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.13409G>T (p.Gly4470Val) rs1261297305
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.13480G>T (p.Glu4494Ter) rs143849895
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
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.13746+4C>G rs1973676634
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
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.14210G>A (p.Arg4737Gln) rs193922868
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.14646G>A (p.Thr4882=) rs536148030
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14773G>A (p.Val4925Ile) rs959737076
NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe) rs750009277
NM_000540.3(RYR1):c.161C>A (p.Ala54Glu) rs1032364286
NM_000540.3(RYR1):c.1675dup (p.Ile559fs) rs1475149579
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser) rs1316726339
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2338dup (p.Val780fs) rs1967603354
NM_000540.3(RYR1):c.2384G>A (p.Arg795His) rs201635585
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.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2923C>T (p.Arg975Trp) rs371278145
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala) rs143331857
NM_000540.3(RYR1):c.3124G>A (p.Val1042Met) rs540088339
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.3946C>T (p.Pro1316Ser) rs200894780
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs) rs1281542312
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.4182G>T (p.Lys1394Asn) rs886054384
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.5008C>T (p.Arg1670Cys) rs1182258955
NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser) rs1568484483
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.5333C>A (p.Ser1778Ter) rs367543055
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=) rs1193082244
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu) rs367543056
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.640A>G (p.Thr214Ala) rs769650157
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6796G>T (p.Gly2266Cys) rs772803714
NM_000540.3(RYR1):c.6805G>C (p.Gly2269Arg) rs765088913
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
NM_000540.3(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.3(RYR1):c.7243C>G (p.Arg2415Gly) rs368013861
NM_000540.3(RYR1):c.7291G>T (p.Asp2431Tyr) rs193922810
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter) rs367543054
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
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.7793C>G (p.Ala2598Gly) rs770719689
NM_000540.3(RYR1):c.7835+1G>A rs1057524858
NM_000540.3(RYR1):c.7836-1G>A rs1568507354
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.7954dup (p.Trp2652fs) rs1600842678
NM_000540.3(RYR1):c.8118_8119inv (p.Ala2707Thr)
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs) rs758580075
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del) rs767722812
NM_000540.3(RYR1):c.859G>A (p.Gly287Arg) rs201292282
NM_000540.3(RYR1):c.8843C>G (p.Ser2948Trp) rs759514075
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG rs1555786205
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.3(RYR1):c.9000+1G>T rs111364670
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.9277C>T (p.Arg3093Cys) rs1064797039
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.9603G>A (p.Met3201Ile) rs373611044
NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu) rs201588259
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.9889C>T (p.Pro3297Ser) rs2145682498
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys) rs367543057
NM_001100.4(ACTA1):c.-66_-65delinsTC rs386640096
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) rs1659988389
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp) rs367543050
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
NM_001278188.2(TPM3):c.69-3046CTGAGG[3]
NM_003289.4(TPM2):c.28A>T (p.Met10Leu) rs1825152365
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_020451.3(SELENON):c.-11_81del (p.Met1fs) rs1557813850
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.713dup (p.Asn238fs) rs368104077
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.997_1000del (p.Val333fs) rs886041686
NM_152263.4(TPM3):c.*1093T>C rs886045311
NM_152263.4(TPM3):c.*1130C>T rs143058197
NM_152263.4(TPM3):c.*1246_*1247dup rs72189266
NM_152263.4(TPM3):c.*1247dup rs72189266
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.*2147del rs68185418
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.117+14T>C
NM_152263.4(TPM3):c.118-11G>C
NM_152263.4(TPM3):c.118-12G>A
NM_152263.4(TPM3):c.118-20G>C
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.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.159G>A (p.Gly53=)
NM_152263.4(TPM3):c.163G>A (p.Glu55Lys) rs2148294608
NM_152263.4(TPM3):c.171G>A (p.Glu57=)
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+17T>C
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.245C>T (p.Ala82Val)
NM_152263.4(TPM3):c.262T>C (p.Ser88Pro) rs1558052214
NM_152263.4(TPM3):c.26T>G (p.Met9Arg) rs80358247
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly) rs1571418855
NM_152263.4(TPM3):c.271C>T (p.Arg91Cys) rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro) rs199474713
NM_152263.4(TPM3):c.273T>C (p.Arg91=) rs974189739
NM_152263.4(TPM3):c.273_281del (p.Arg92_Gln94del)
NM_152263.4(TPM3):c.298C>A (p.Leu100Met) rs121964853
NM_152263.4(TPM3):c.298C>G (p.Leu100Val) rs121964853
NM_152263.4(TPM3):c.301G>A (p.Asp101Asn) rs2148257542
NM_152263.4(TPM3):c.317G>A (p.Arg106His)
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.346G>A (p.Glu116Lys)
NM_152263.4(TPM3):c.36G>C (p.Leu12=)
NM_152263.4(TPM3):c.377+863_775+422del
NM_152263.4(TPM3):c.378-11A>G
NM_152263.4(TPM3):c.378-11A>T
NM_152263.4(TPM3):c.378-16G>T rs2148242406
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.41T>G (p.Leu14Ter)
NM_152263.4(TPM3):c.423G>A (p.Lys141=) rs2148242145
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.43G>C (p.Asp15His) rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val) rs2148295444
NM_152263.4(TPM3):c.452A>C (p.Glu151Ala)
NM_152263.4(TPM3):c.455C>T (p.Ala152Val) rs1553249076
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.494A>G (p.Glu165Gly) rs1661790334
NM_152263.4(TPM3):c.495+10C>G rs1043806769
NM_152263.4(TPM3):c.495+12T>G
NM_152263.4(TPM3):c.495+13C>T rs2148241904
NM_152263.4(TPM3):c.495+9C>G rs1661789594
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly) rs121964854
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.503G>T (p.Arg168Leu)
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu) rs199474715
NM_152263.4(TPM3):c.510G>A (p.Leu170=)
NM_152263.4(TPM3):c.518T>A (p.Ile173Asn)
NM_152263.4(TPM3):c.535C>T (p.Arg179Cys)
NM_152263.4(TPM3):c.547C>T (p.Arg183Ter) rs727504181
NM_152263.4(TPM3):c.552T>C (p.Ala184=)
NM_152263.4(TPM3):c.556C>T (p.Leu186=) rs1203258070
NM_152263.4(TPM3):c.566+13C>T
NM_152263.4(TPM3):c.589_590delinsAT (p.Glu197Met) rs2148235398
NM_152263.4(TPM3):c.591G>A (p.Glu197=)
NM_152263.4(TPM3):c.59T>C (p.Leu20Pro) rs1663698070
NM_152263.4(TPM3):c.612C>T (p.Asn204=)
NM_152263.4(TPM3):c.621T>G (p.Ser207=)
NM_152263.4(TPM3):c.635C>T (p.Ala212Val)
NM_152263.4(TPM3):c.636G>A (p.Ala212=)
NM_152263.4(TPM3):c.642+2T>C
NM_152263.4(TPM3):c.642+8C>G
NM_152263.4(TPM3):c.643-13A>C
NM_152263.4(TPM3):c.643-8_643-4del
NM_152263.4(TPM3):c.687T>C (p.Leu229=)
NM_152263.4(TPM3):c.705+12G>T
NM_152263.4(TPM3):c.706-11A>G rs752438266
NM_152263.4(TPM3):c.706-13A>G
NM_152263.4(TPM3):c.706-2dup rs1085307588
NM_152263.4(TPM3):c.706-3C>T rs750493083
NM_152263.4(TPM3):c.706-4C>T rs2148231499
NM_152263.4(TPM3):c.706-5C>G
NM_152263.4(TPM3):c.706-6C>T rs1661447571
NM_152263.4(TPM3):c.706-9T>A rs931328025
NM_152263.4(TPM3):c.709G>A (p.Glu237Lys) rs1661445206
NM_152263.4(TPM3):c.714C>G (p.Thr238=)
NM_152263.4(TPM3):c.716G>A (p.Arg239His)
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys) rs199474717
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly) rs199474718
NM_152263.4(TPM3):c.737C>T (p.Ser246Leu) rs1553248522
NM_152263.4(TPM3):c.753A>G (p.Glu251=)
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515
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+15G>C
NM_152263.4(TPM3):c.775+6G>T
NM_152263.4(TPM3):c.775+7A>G
NM_152263.4(TPM3):c.776-14C>T rs943685377
NM_152263.4(TPM3):c.776-15C>T
NM_152263.4(TPM3):c.776-18G>T
NM_152263.4(TPM3):c.776-6G>A
NM_152263.4(TPM3):c.776-6G>C
NM_152263.4(TPM3):c.780G>A (p.Glu260=) rs1661333585
NM_152263.4(TPM3):c.796C>T (p.Leu266=) rs189530777
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678
NM_152263.4(TPM3):c.821A>C (p.Glu274Ala)
NM_152263.4(TPM3):c.854+1G>A rs113367027
NM_152263.4(TPM3):c.854+8T>C
NM_152263.4(TPM3):c.855-19T>G
NM_152263.4(TPM3):c.855-20A>G
NM_152263.4(TPM3):c.855-6A>T rs2148221842
NM_152263.4(TPM3):c.855-8T>A
NM_152263.4(TPM3):c.855del (p.Ter286AsnextTer?) rs199474719
NM_152263.4(TPM3):c.85G>A (p.Glu29Lys) rs1663696530
NM_152263.4(TPM3):c.87_91del (p.Gln30fs) rs2148295371
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(TPM3):c.94C>T (p.Gln32Ter) rs80358248
NM_152263.4:c.(377+1_387-1)_(566+1_567-1)del

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