ClinVar Miner

List of variants studied for familial isolated arrhythmogenic right ventricular dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1030
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_001005242.3(PKP2):c.*202C>T rs77988382 0.00472
NM_001232.4(CASQ2):c.*503G>A rs72554068 0.00381
NM_001792.5(CDH2):c.885C>T (p.Asp295=) rs17493618 0.00300
NM_001792.5(CDH2):c.702+6A>T rs17493682 0.00293
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00177
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001232.4(CASQ2):c.-234C>A rs553316024 0.00067
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) rs4252315 0.00066
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_006073.4(TRDN):c.611-19A>T rs142018848 0.00044
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_001943.5(DSG2):c.*211A>G rs555912274 0.00039
NM_001943.5(DSG2):c.121C>A (p.His41Asn) rs201499704 0.00039
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_001035.3(RYR2):c.1292+19G>A rs368198276 0.00030
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004415.4(DSP):c.-157G>A rs886061742 0.00025
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_024422.6(DSC2):c.-113C>A rs866593085 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) rs190073606 0.00022
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001232.4(CASQ2):c.*929C>T rs547458797 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu) rs730880179 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.336+17T>G rs185681814 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg) rs757285245 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_003239.5(TGFB3):c.-547dup rs886050802 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn) rs140193292 0.00012
NM_001943.5(DSG2):c.81+17A>G rs547399759 0.00012
NM_001232.4(CASQ2):c.-225G>A rs535999427 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val) rs767979763 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) rs532517095 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_006073.4(TRDN):c.23-19T>G rs370102595 0.00011
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val) rs372808360 0.00011
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val) rs377404952 0.00011
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) rs369033938 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001035.3(RYR2):c.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001943.5(DSG2):c.523+20T>C rs775127367 0.00010
NM_002230.4(JUP):c.-55C>T rs886052921 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) rs539021736 0.00009
NM_001232.4(CASQ2):c.*457C>T rs375002557 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile) rs727504770 0.00009
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_013266.4(CTNNA3):c.1604G>A (p.Arg535His) rs139378888 0.00009
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val) rs778640435 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024422.6(DSC2):c.-25C>G rs904308285 0.00009
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001232.4(CASQ2):c.758G>A (p.Arg253His) rs199571249 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) rs781353815 0.00008
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005 0.00008
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 0.00007
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr) rs368974917 0.00006
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys) rs727504134 0.00006
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868 0.00006
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_002230.4(JUP):c.-51C>G rs886052920 0.00006
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) rs371230847 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443 0.00006
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_006073.4(TRDN):c.1975+8C>T rs754046696 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_013266.4(CTNNA3):c.1651G>A (p.Val551Ile) rs750835711 0.00006
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser) rs199985402 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001943.5(DSG2):c.2471G>A (p.Arg824His) rs376858770 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln) rs372263407 0.00004
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys) rs759377911 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 0.00004
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470 0.00004
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) rs758453646 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln) rs903232857 0.00004
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala) rs1057512489 0.00004
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) rs372569289 0.00004
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala) rs1005458283 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.950T>C (p.Met317Thr) rs367601258 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001232.4(CASQ2):c.376G>C (p.Asp126His) rs727502908 0.00004
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.208A>G (p.Ile70Val) rs769713919 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) rs1018415204 0.00004
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) rs145121701 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg) rs746802503 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn) rs765645957 0.00004
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg) rs746482538 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826 0.00004
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037 0.00004
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891 0.00004
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) rs780224658 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019 0.00004
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe) rs549451471 0.00004
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile) rs1478775642 0.00004
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu) rs764514210 0.00004
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001035.3(RYR2):c.1024G>A (p.Val342Met) rs371898166 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.2617G>A (p.Val873Met) rs369248015 0.00003
NM_001035.3(RYR2):c.294+3A>G rs1321804058 0.00003
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln) rs1172697175 0.00003
NM_001035.3(RYR2):c.3214+7T>G rs748941127 0.00003
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544 0.00003
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile) rs762899950 0.00003
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp) rs760010432 0.00003
NM_001035.3(RYR2):c.719A>G (p.His240Arg) rs369512347 0.00003
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met) rs377136047 0.00003
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His) rs753179691 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 0.00003
NM_001943.5(DSG2):c.216+3A>C rs774208829 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 0.00003
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala) rs727502991 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr) rs727502986 0.00003
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264 0.00003
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu) rs779253041 0.00003
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839 0.00003
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln) rs147909031 0.00003
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg) rs747326519 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val) rs768837509 0.00003
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val) rs774087560 0.00003
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp) rs537046857 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) rs773252606 0.00002
NM_001035.3(RYR2):c.1166G>A (p.Arg389His) rs200685968 0.00002
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=) rs368634803 0.00002
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala) rs755148895 0.00002
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu) rs759830423 0.00002
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) rs1386632671 0.00002
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly) rs748492817 0.00002
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys) rs754181384 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu) rs962100875 0.00002
NM_001035.3(RYR2):c.4161-5T>C rs1416816823 0.00002
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg) rs765351308 0.00002
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys) rs749184443 0.00002
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys) rs1224597817 0.00002
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) rs780681855 0.00002
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr) rs142498105 0.00002
NM_001035.3(RYR2):c.782A>G (p.His261Arg) rs577416427 0.00002
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=) rs751520306 0.00002
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) rs981753891 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn) rs1060500168 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys) rs766843045 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) rs768423844 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.104G>C (p.Gly35Ala) rs202194206 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.384G>A (p.Met128Ile) rs930440897 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser) rs771721410 0.00002
NM_004415.4(DSP):c.449G>A (p.Arg150Gln) rs587782940 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004415.4(DSP):c.740C>T (p.Ala247Val) rs544360130 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972 0.00002
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.931+10T>A rs754118635 0.00002
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His) rs748621335 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln) rs756000218 0.00001
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser) rs143397927 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys) rs727503370 0.00001
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr) rs1956376395 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.536A>G (p.His179Arg) rs1371222715 0.00001
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln) rs765477952 0.00001
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile) rs543281875 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met) rs199701968 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His) rs1229045575 0.00001
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) rs747138259 0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) rs375947003 0.00001
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) rs894881755 0.00001
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020 0.00001
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser) rs766499417 0.00001
NM_001035.3(RYR2):c.1115T>A (p.Leu372His) rs763658621 0.00001
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter) rs1446308525 0.00001
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg) rs397516506 0.00001
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe) rs1430332496 0.00001
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile) rs1210103464 0.00001
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp) rs1172947190 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) rs1178157004 0.00001
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) rs371396204 0.00001
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) rs769146715 0.00001
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) rs1361307283 0.00001
NM_001035.3(RYR2):c.1320G>A (p.Ala440=) rs887478410 0.00001
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg) rs747584325 0.00001
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val) rs775428443 0.00001
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) rs778498741 0.00001
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) rs1268914442 0.00001
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742 0.00001
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) rs1479892874 0.00001
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln) rs765389300 0.00001
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn) rs777414943 0.00001
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) rs376243998 0.00001
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr) rs780965490 0.00001
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) rs1227019047 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.2786G>A (p.Arg929His) rs876657988 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu) rs1404965456 0.00001
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) rs779146564 0.00001
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) rs774797663 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643 0.00001
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu) rs769163639 0.00001
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys) rs764144130 0.00001
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) rs1353376223 0.00001
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr) rs397516542 0.00001
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser) rs760731968 0.00001
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=) rs758277755 0.00001
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu) rs368669045 0.00001
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His) rs551362343 0.00001
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) rs1158268722 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 0.00001
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr) rs1057524513 0.00001
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn) rs1558114884 0.00001
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) rs934248102 0.00001
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) rs772541555 0.00001
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) rs776908944 0.00001
NM_001035.3(RYR2):c.808C>T (p.His270Tyr) rs745558219 0.00001
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu) rs956317332 0.00001
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His) rs755897867 0.00001
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) rs1688441480 0.00001
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr) rs1472732790 0.00001
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) rs773957909 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg) rs794728766 0.00001
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) rs1558793119 0.00001
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile) rs886045160 0.00001
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg) rs375811174 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn) rs758082383 0.00001
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val) rs772419873 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp) rs201306936 0.00001
NM_001232.4(CASQ2):c.939+1G>T rs905985075 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.128A>G (p.His43Arg) rs370922106 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) rs1598819592 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1652-8C>T rs770497608 0.00001
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser) rs756896076 0.00001
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile) rs727502989 0.00001
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu) rs769649528 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 0.00001
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile) rs375955157 0.00001
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile) rs760786694 0.00001
NM_001943.5(DSG2):c.2742T>C (p.Ser914=) rs529198523 0.00001
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183 0.00001
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg) rs1408093009 0.00001
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn) rs919875624 0.00001
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile) rs749540432 0.00001
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr) rs1275376903 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys) rs566251077 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) rs1036545575 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) rs868258653 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) rs368004396 0.00001
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) rs771543236 0.00001
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) rs564013964 0.00001
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) rs762643638 0.00001
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser) rs746245682 0.00001
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser) rs1064795084 0.00001
NM_004415.4(DSP):c.1197C>G (p.Ile399Met) rs375828592 0.00001
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro) rs763523373 0.00001
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916 0.00001
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu) rs1430756602 0.00001
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 0.00001
NM_004415.4(DSP):c.2850T>G (p.Ile950Met) rs727502999 0.00001
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro) rs745641212 0.00001
NM_004415.4(DSP):c.2872A>G (p.Ile958Val) rs377116090 0.00001
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile) rs1265482489 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 0.00001
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser) rs774742340 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn) rs989348634 0.00001
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638 0.00001
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476 0.00001
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly) rs1304994640 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe) rs372452104 0.00001
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys) rs1352220803 0.00001
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302 0.00001
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu) rs926676669 0.00001
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile) rs374226658 0.00001
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 0.00001
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969 0.00001
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu) rs759982048 0.00001
NM_004415.4(DSP):c.677A>G (p.Asn226Ser) rs921332894 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys) rs765245807 0.00001
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 0.00001
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala) rs1170072296 0.00001
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile) rs772951950 0.00001
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888 0.00001
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser) rs1371748682 0.00001
NM_004415.4(DSP):c.8050A>G (p.Met2684Val) rs147801650 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe) rs367972703 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys) rs767961179 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr) rs148550678 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 0.00001
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973 0.00001
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) rs745563456 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) rs545032318 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr) rs766413086 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) rs1312909126 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) rs1987521149 0.00001
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=) rs1555143127
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe) rs769817013
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu) rs1956192621
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile) rs1565574704
NM_001005242.3(PKP2):c.2168-1G>A rs1060501184
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val) rs1192534020
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.497_498del (p.Tyr166fs)
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile) rs1085307949
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val) rs759660796
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) rs1689900582
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) rs2149142608
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) rs1692948853
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser) rs397516504
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) rs80313920
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys) rs1298823746
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr) rs1060500135
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) rs570414987
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) rs1658553532
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13563+5G>A
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) rs1235379196
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn) rs1060500169
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) rs886039213
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn) rs1558439258
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) rs1659493419
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) rs2149404631
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) rs749201569
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr) rs2102968070
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys) rs373502556
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala) rs1658861680
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) rs564957172
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr) rs1664091907
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val) rs768063536
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) rs774486571
NM_001035.3(RYR2):c.2378G>C (p.Ser793Thr)
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) rs794728698
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) rs773162223
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys) rs879255350
NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp) rs2148252443
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu) rs779640835
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu) rs763881346
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=) rs780861754
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) rs747297455
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn) rs1553515422
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro) rs794728734
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) rs769163639
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) rs1298609322
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4910+3C>G rs757198624
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) rs1678240011
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) rs1168483242
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala) rs41315858
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) rs754811291
NM_001035.3(RYR2):c.596G>T (p.Gly199Val) rs754911836
NM_001035.3(RYR2):c.6273G>C (p.Gln2091His)
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) rs2148667315
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) rs375371340
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) rs1681171235
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.7418A>G (p.Asp2473Gly)
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala) rs747787121
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) rs1218556750
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) rs1399536009
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) rs2150028964
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) rs1419719746
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) rs2148878470
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.8923T>C (p.Phe2975Leu)
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) rs748858246
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) rs1014875855
NM_001232.4(CASQ2):c.*332A>T rs758724908
NM_001232.4(CASQ2):c.-206_-205dup rs72554067
NM_001232.4(CASQ2):c.-212_-211insATGTGT rs886045162
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC rs886045163
NM_001232.4(CASQ2):c.-219_-218insCGTGTG rs886045164
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001232.4(CASQ2):c.213del (p.Gln71fs) rs786205799
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del) rs1358515759
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_001232.4(CASQ2):c.940-1G>T rs876657635
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1423+1G>T rs1257877047
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1811A>G (p.His604Arg) rs1359949181
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp) rs771675609
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp) rs746359987
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met) rs776686758
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg) rs397516707
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr) rs1478351535
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1_523+2del rs1598810829
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser) rs2073152820
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) rs1248127840
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) rs375153534
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) rs369435862
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.1044+3A>C rs765089914
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1483G>T (p.Val495Leu) rs372014020
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.170+1G>A rs1309931610
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2153C>T (p.Ala718Val) rs764290255
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys) rs963374775
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro) rs869025391
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr) rs1393048121
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn) rs200338012
NM_004415.4(DSP):c.2631-13dup rs1455610668
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro) rs371234425
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe) rs1018173692
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys) rs367763339
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del) rs777457799
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro) rs1173680775
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4677C>G (p.Phe1559Leu)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del) rs1010996982
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.484C>G (p.Arg162Gly) rs760711308
NM_004415.4(DSP):c.485G>A (p.Arg162His) rs397516944
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu) rs144106775
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.526A>G (p.Ser176Gly) rs1426245453
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr) rs1322656621
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr) rs771974957
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.647A>C (p.Gln216Pro) rs1758736357
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys) rs397516952
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.694C>T (p.Arg232Cys) rs777847026
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.727C>T (p.Arg243Cys) rs1191710190
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.8258A>G (p.Lys2753Arg)
NM_004415.4(DSP):c.8319C>G (p.Ile2773Met)
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys) rs1354218745
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs) rs778198100
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006073.4(TRDN):c.391+1G>A rs2114436209
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_013266.4(CTNNA3):c.1514A>G (p.Asp505Gly)
NM_013266.4(CTNNA3):c.2265+1del rs2078476986
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala) rs758058375
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.884_886del
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024422.6(DSC2):c.*422C>T rs769685892
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) rs1986959880
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) rs748644229
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs) rs1986691422
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn) rs1987447561
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064

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