ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 797
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.*853C>T rs55919561 0.01530
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.*1027G>C rs147905567 0.00640
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_024334.3(TMEM43):c.*1054_*1058del rs550702296 0.00553
NM_002230.4(JUP):c.*239G>A rs115919416 0.00526
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_024422.6(DSC2):c.*1658G>A rs185216732 0.00455
NM_024334.3(TMEM43):c.*806A>C rs58476065 0.00408
NM_024422.6(DSC2):c.*1017C>T rs191171295 0.00357
NM_001943.5(DSG2):c.*131C>T rs146873880 0.00328
NM_024422.6(DSC2):c.*1237G>A rs28530723 0.00292
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_024422.6(DSC2):c.*185A>G rs147458812 0.00227
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_002230.4(JUP):c.-96G>A rs552101358 0.00212
NM_001943.5(DSG2):c.*990G>A rs553112355 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001943.5(DSG2):c.*1399A>G rs117440439 0.00186
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_001943.4(DSG2):c.-79C>G rs552915392 0.00179
NM_001943.5(DSG2):c.-55G>C rs551539015 0.00176
NM_001943.5(DSG2):c.*989C>T rs140755940 0.00172
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_002230.4(JUP):c.*21C>A rs41275669 0.00146
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024422.6(DSC2):c.*764T>A rs539965523 0.00140
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_001943.5(DSG2):c.*1530T>C rs15668 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_002230.4(JUP):c.*787A>G rs551870163 0.00125
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001035.3(RYR2):c.*509A>G rs565288028 0.00105
NM_024422.6(DSC2):c.*1541A>T rs571420655 0.00101
NM_004572.3(PKP2):c.-99T>C rs565997897 0.00098
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_024422.6(DSC2):c.*534A>G rs373266930 0.00083
NM_002230.4(JUP):c.*98C>T rs112151379 0.00080
NM_024422.6(DSC2):c.*1104G>A rs186055396 0.00080
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_024422.6(DSC2):c.*1784G>T rs375290800 0.00073
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_001005242.3(PKP2):c.*1246C>T rs187618849 0.00064
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_001943.5(DSG2):c.*2C>T rs183494886 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_024422.6(DSC2):c.*472T>A rs555348907 0.00045
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001943.5(DSG2):c.*211A>G rs555912274 0.00039
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001943.5(DSG2):c.*889G>A rs886053729 0.00038
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_001943.5(DSG2):c.*737C>G rs767211637 0.00037
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
NM_001943.5(DSG2):c.*1036C>G rs191443311 0.00032
NM_002230.4(JUP):c.*339C>T rs575041614 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_001943.5(DSG2):c.*1831T>C rs546796254 0.00030
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.*1108A>G rs540171235 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_024422.6(DSC2):c.*1927T>C rs532718510 0.00026
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001943.5(DSG2):c.*300G>A rs747504155 0.00025
NM_001035.3(RYR2):c.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_001005242.3(PKP2):c.*330A>G rs375759731 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_024422.6(DSC2):c.*1628T>G rs767804423 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_001005242.3(PKP2):c.*110T>G rs575103888 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001943.5(DSG2):c.*608G>A rs886053724 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_024422.6(DSC2):c.*1704G>T rs181853776 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_001005242.3(PKP2):c.*22G>A rs371003054 0.00021
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001943.5(DSG2):c.*739G>A rs775624337 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_001005242.3(PKP2):c.*839C>T rs542578192 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 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_001035.3(RYR2):c.*1329C>G rs749767730 0.00016
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001943.5(DSG2):c.*2034C>T rs886053738 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_004415.4(DSP):c.-157G>A rs886061742 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001035.3(RYR2):c.*142C>T rs552725083 0.00015
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_001943.5(DSG2):c.*1263C>T rs192887371 0.00015
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_001943.5(DSG2):c.*422C>T rs886053722 0.00014
NM_001943.5(DSG2):c.*696G>A rs773284085 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 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.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_024422.6(DSC2):c.*2029A>T rs548041881 0.00014
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr) rs375358300 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_004415.4(DSP):c.*577G>A rs886061755 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_024422.6(DSC2):c.*1158A>G rs749440073 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708 0.00012
NM_001943.5(DSG2):c.*847T>C rs930886277 0.00012
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_004415.4(DSP):c.*289C>T rs886061749 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=) rs3748278 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001035.3(RYR2):c.*1152G>A rs551419848 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val) rs1394059438 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001943.5(DSG2):c.*1803A>G rs147816088 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_024422.6(DSC2):c.*1408A>G rs539091896 0.00011
NM_024422.6(DSC2):c.*753T>G rs940327323 0.00011
NM_001005242.3(PKP2):c.*932C>A rs766792445 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001035.3(RYR2):c.13957-5C>G rs189772599 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_002230.4(JUP):c.-55C>T rs886052921 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001943.5(DSG2):c.*425T>C rs192049697 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_003239.5(TGFB3):c.*185C>T rs3917216 0.00009
NM_004415.4(DSP):c.*58T>C rs753281894 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001035.3(RYR2):c.*107G>A rs867864296 0.00008
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr) rs375021201 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=) rs376057173 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001035.3(RYR2):c.*761G>A rs1034404143 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001943.5(DSG2):c.*392A>G rs886053721 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_001005242.3(PKP2):c.*215G>A rs886049318 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu) rs397516522 0.00006
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) rs757490010 0.00006
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_001943.5(DSG2):c.*289A>G rs541237335 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_002230.4(JUP):c.*351G>A rs782725604 0.00006
NM_002230.4(JUP):c.-51C>G rs886052920 0.00006
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001035.3(RYR2):c.*566G>T rs886046293 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu) rs377368967 0.00005
NM_001943.5(DSG2):c.*859G>A rs886053727 0.00005
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg) rs765793636 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_001943.5(DSG2):c.2897G>C (p.Arg966Thr) rs764925318 0.00005
NM_002230.4(JUP):c.*728A>C rs889216050 0.00005
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_004415.4(DSP):c.*62A>T rs182788116 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_024422.6(DSC2):c.*1972A>C rs751949322 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_001005242.3(PKP2):c.*41G>A rs754465954 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=) rs145387575 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11557+15G>A rs761490797 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile) rs748581317 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001943.5(DSG2):c.*1136G>A rs764985189 0.00004
NM_001943.5(DSG2):c.*806C>T rs961192815 0.00004
NM_001943.5(DSG2):c.-33G>A rs903231469 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn) rs397516701 0.00004
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_002230.4(JUP):c.*87G>A rs375989026 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535 0.00004
NM_002230.4(JUP):c.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.321G>A (p.Glu107=) rs781978743 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_024422.6(DSC2):c.*1346T>A rs1029495207 0.00004
NM_024422.6(DSC2):c.*1444A>G rs886053684 0.00004
NM_024422.6(DSC2):c.-187C>T rs562293556 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_001005242.3(PKP2):c.*227T>C rs886049317 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001035.3(RYR2):c.*338C>T rs879161531 0.00003
NM_001035.3(RYR2):c.*781T>A rs139272315 0.00003
NM_001035.3(RYR2):c.*946C>T rs762908336 0.00003
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283 0.00003
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp) rs747404408 0.00003
NM_001035.3(RYR2):c.837G>A (p.Thr279=) rs769682840 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293 0.00003
NM_001943.4(DSG2):c.-156G>A rs886053707 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_002230.4(JUP):c.*567C>G rs886052914 0.00003
NM_002230.4(JUP):c.*573C>T rs886052913 0.00003
NM_002230.4(JUP):c.*670G>T rs782166986 0.00003
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_004415.4(DSP):c.*358A>T rs886061752 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) rs140663822 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_024334.3(TMEM43):c.*849T>C rs886058034 0.00003
NM_024422.6(DSC2):c.*166C>G rs886053692 0.00003
NM_024422.6(DSC2):c.*864G>A rs746780312 0.00003
NM_024422.6(DSC2):c.-366A>G rs886053700 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_001005242.3(PKP2):c.*1220A>G rs886049306 0.00002
NM_001005242.3(PKP2):c.*607A>C rs187797390 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala) rs867374780 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001035.3(RYR2):c.*472A>G rs1006941124 0.00002
NM_001035.3(RYR2):c.*869G>A rs886046303 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.11039+7T>C rs569571855 0.00002
NM_001035.3(RYR2):c.1404G>A (p.Glu468=) rs768538183 0.00002
NM_001035.3(RYR2):c.1940G>A (p.Arg647His) rs766330093 0.00002
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=) rs1060503853 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970 0.00002
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser) rs775091459 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.3112A>G (p.Ile1038Val) rs774113529 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_002230.4(JUP):c.*316G>A rs910457325 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_024422.6(DSC2):c.*1110A>G rs1358624129 0.00002
NM_024422.6(DSC2):c.*1356G>A rs1986629320 0.00002
NM_024422.6(DSC2):c.*784G>T rs1613246 0.00002
NM_024422.6(DSC2):c.-155G>T rs886053699 0.00002
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=) rs779749104 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001005242.3(PKP2):c.1840-5G>C rs752016948 0.00001
NM_001005242.3(PKP2):c.2216C>T (p.Pro739Leu) rs758834771 0.00001
NM_001005242.3(PKP2):c.2455A>G (p.Lys819Glu) rs1235732912 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001035.3(RYR2):c.*1131A>G rs1023948327 0.00001
NM_001035.3(RYR2):c.*1268G>A rs1231042485 0.00001
NM_001035.3(RYR2):c.*299C>G rs886046288 0.00001
NM_001035.3(RYR2):c.*988C>T rs898651416 0.00001
NM_001035.3(RYR2):c.-15A>G rs772056240 0.00001
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=) rs753175584 0.00001
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628 0.00001
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=) rs768797598 0.00001
NM_001035.3(RYR2):c.11040-3C>T rs876657984 0.00001
NM_001035.3(RYR2):c.11146-6G>A rs886046277 0.00001
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser) rs967116157 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=) rs748716535 0.00001
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His) rs764202302 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=) rs183933829 0.00001
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=) rs886046279 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213 0.00001
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=) rs758566439 0.00001
NM_001035.3(RYR2):c.1444C>T (p.Leu482=) rs117903753 0.00001
NM_001035.3(RYR2):c.14808+12A>C rs886046281 0.00001
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys) rs748762074 0.00001
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=) rs758813812 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys) rs765102386 0.00001
NM_001035.3(RYR2):c.2808G>A (p.Ser936=) rs1057521205 0.00001
NM_001035.3(RYR2):c.3067-14G>C rs757471501 0.00001
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776 0.00001
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414 0.00001
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser) rs886046265 0.00001
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) rs762372863 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223 0.00001
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu) rs769384124 0.00001
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys) rs777557037 0.00001
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 0.00001
NM_001035.3(RYR2):c.6688+13C>A rs1262322008 0.00001
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala) rs777279244 0.00001
NM_001035.3(RYR2):c.849-10T>C rs771173251 0.00001
NM_001035.3(RYR2):c.8493T>C (p.Val2831=) rs755660659 0.00001
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp) rs770278770 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_001943.4(DSG2):c.-144G>A rs1478833586 0.00001
NM_001943.4(DSG2):c.-178G>A rs1367107745 0.00001
NM_001943.5(DSG2):c.*599_*600del rs1491095224 0.00001
NM_001943.5(DSG2):c.*666G>T rs1475926412 0.00001
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946 0.00001
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser) rs540113579 0.00001
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly) rs730880077 0.00001
NM_001943.5(DSG2):c.164C>T (p.Pro55Leu) rs748684045 0.00001
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met) rs368584610 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.447T>C (p.Val149=) rs1389484271 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile) rs751490881 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_002230.4(JUP):c.*436G>A rs886052915 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2087-5C>T rs886052917 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.534C>T (p.Ala178=) rs1916171269 0.00001
NM_002230.4(JUP):c.708-12C>G rs781970079 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_004415.4(DSP):c.*112A>G rs141059005 0.00001
NM_004415.4(DSP):c.*137T>C rs756543548 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004572.3(PKP2):c.-51C>T rs886049326 0.00001
NM_004572.3(PKP2):c.-66G>C rs1157974448 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024422.6(DSC2):c.*1401C>T rs886053685 0.00001
NM_024422.6(DSC2):c.-132C>A rs886053698 0.00001
NM_024422.6(DSC2):c.-381G>C rs886053701 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_001005242.3(PKP2):c.*1023C>T rs886049309
NM_001005242.3(PKP2):c.*1048G>T rs886049308
NM_001005242.3(PKP2):c.*1159A>T rs886049307
NM_001005242.3(PKP2):c.*1527G>A rs1238128272
NM_001005242.3(PKP2):c.*1602A>G rs760973876
NM_001005242.3(PKP2):c.*180C>G rs886049319
NM_001005242.3(PKP2):c.*252A>G rs886049316
NM_001005242.3(PKP2):c.*320C>A rs886049315
NM_001005242.3(PKP2):c.*400A>G rs529644235
NM_001005242.3(PKP2):c.*429A>T rs1956071585
NM_001005242.3(PKP2):c.*579C>A rs886049314
NM_001005242.3(PKP2):c.*753C>G rs886049313
NM_001005242.3(PKP2):c.*910C>A rs886049312
NM_001005242.3(PKP2):c.*953C>A rs886049311
NM_001005242.3(PKP2):c.*962C>A rs886049310
NM_001005242.3(PKP2):c.-15G>T rs886049325
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn) rs1215591759
NM_001005242.3(PKP2):c.1180C>T (p.Leu394Phe) rs886049321
NM_001005242.3(PKP2):c.1189A>G (p.Ile397Val) rs1956691539
NM_001005242.3(PKP2):c.1379-2027A>G rs778247181
NM_001005242.3(PKP2):c.1602A>T (p.Arg534Ser) rs1956409909
NM_001005242.3(PKP2):c.1675-3C>T rs1592737932
NM_001005242.3(PKP2):c.187A>C (p.Thr63Pro) rs886049324
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2190G>A (p.Leu730=) rs886049320
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2445+11G>T rs1356336963
NM_001005242.3(PKP2):c.2504T>G (p.Leu835Arg) rs775572104
NM_001005242.3(PKP2):c.38T>A (p.Ile13Asn) rs775889367
NM_001005242.3(PKP2):c.470A>T (p.Glu157Val) rs886049323
NM_001005242.3(PKP2):c.489C>T (p.His163=) rs771398047
NM_001035.3(RYR2):c.*1023G>T rs886046304
NM_001035.3(RYR2):c.*1065A>G rs886046305
NM_001035.3(RYR2):c.*1070G>T rs886046306
NM_001035.3(RYR2):c.*167_*168dup rs886046284
NM_001035.3(RYR2):c.*187C>A rs886046285
NM_001035.3(RYR2):c.*206C>A rs886046286
NM_001035.3(RYR2):c.*272C>A rs886046287
NM_001035.3(RYR2):c.*354A>G rs886046289
NM_001035.3(RYR2):c.*378C>A rs886046290
NM_001035.3(RYR2):c.*379T>G rs886046291
NM_001035.3(RYR2):c.*578del rs113047070
NM_001035.3(RYR2):c.*578dup rs113047070
NM_001035.3(RYR2):c.*642A>C rs886046297
NM_001035.3(RYR2):c.*646dup rs377407067
NM_001035.3(RYR2):c.*711C>G rs544493822
NM_001035.3(RYR2):c.*712C>G rs886046300
NM_001035.3(RYR2):c.*713C>G rs886046301
NM_001035.3(RYR2):c.*715_*716insGC rs886046302
NM_001035.3(RYR2):c.*716del rs397983403
NM_001035.3(RYR2):c.*716dup rs397983403
NM_001035.3(RYR2):c.*717G>C rs867345276
NM_001035.3(RYR2):c.*717GCCCCC[1] rs886046299
NM_001035.3(RYR2):c.*723G>C rs1348404826
NM_001035.3(RYR2):c.*79C>A rs886046282
NM_001035.3(RYR2):c.*84del rs764277833
NM_001035.3(RYR2):c.-20C>A rs778527185
NM_001035.3(RYR2):c.-27C>A rs886046260
NM_001035.3(RYR2):c.10323+13dup rs886046276
NM_001035.3(RYR2):c.10414C>T (p.Arg3472Trp) rs1689344988
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser) rs1690559112
NM_001035.3(RYR2):c.11091+11A>G rs1690899283
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=) rs553350678
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys) rs886046278
NM_001035.3(RYR2):c.12712A>G (p.Ile4238Val) rs1695382742
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.13598T>C (p.Leu4533Pro) rs761272973
NM_001035.3(RYR2):c.14325T>C (p.Ala4775=) rs1660960345
NM_001035.3(RYR2):c.14692T>A (p.Phe4898Ile) rs886046280
NM_001035.3(RYR2):c.1612+10A>G rs886046262
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn) rs886046263
NM_001035.3(RYR2):c.1945G>T (p.Val649Leu) rs1663593146
NM_001035.3(RYR2):c.2117A>G (p.Tyr706Cys) rs1664107169
NM_001035.3(RYR2):c.2204-10C>A rs886046264
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.2930A>T (p.Lys977Met) rs1670046069
NM_001035.3(RYR2):c.2964C>T (p.Leu988=) rs202085370
NM_001035.3(RYR2):c.3358C>T (p.Pro1120Ser) rs1331533259
NM_001035.3(RYR2):c.3496G>A (p.Val1166Ile) rs886046266
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4382G>C (p.Arg1461Thr) rs1675476561
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu) rs886046267
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=) rs727504997
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys) rs886046268
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser) rs114534505
NM_001035.3(RYR2):c.5220T>G (p.Pro1740=) rs886046269
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.595G>A (p.Gly199Ser) rs886046261
NM_001035.3(RYR2):c.6216G>A (p.Glu2072=) rs886046271
NM_001035.3(RYR2):c.6689-3T>A rs886046272
NM_001035.3(RYR2):c.6773G>C (p.Arg2258Pro) rs779289104
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=) rs1681182291
NM_001035.3(RYR2):c.7227T>C (p.Ile2409=) rs1681768739
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala) rs1681783995
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val) rs886046273
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=) rs886046274
NM_001035.3(RYR2):c.7634T>C (p.Ile2545Thr) rs758415895
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro) rs1573391679
NM_001035.3(RYR2):c.8508C>T (p.Asp2836=) rs757197730
NM_001035.3(RYR2):c.8759G>T (p.Arg2920Leu) rs756302327
NM_001035.3(RYR2):c.9129-7T>C rs1466669135
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001035.3(RYR2):c.9877G>A (p.Gly3293Arg) rs886046275
NM_001943.4(DSG2):c.-135A>T rs886053709
NM_001943.4(DSG2):c.-153dup rs886053708
NM_001943.5(DSG2):c.*1012C>T rs886053733
NM_001943.5(DSG2):c.*1264G>C rs115099821
NM_001943.5(DSG2):c.*1450G>A rs886053734
NM_001943.5(DSG2):c.*1473G>T rs886053735
NM_001943.5(DSG2):c.*159G>A rs886053719
NM_001943.5(DSG2):c.*1652T>G rs886053736
NM_001943.5(DSG2):c.*1786G>T rs886053737
NM_001943.5(DSG2):c.*1982A>C rs1302003146
NM_001943.5(DSG2):c.*25del rs886053717
NM_001943.5(DSG2):c.*351C>A rs886053720
NM_001943.5(DSG2):c.*419G>T rs552933757
NM_001943.5(DSG2):c.*755G>A rs886053725
NM_001943.5(DSG2):c.*788G>C rs886053726
NM_001943.5(DSG2):c.*874C>T rs886053728
NM_001943.5(DSG2):c.*932_*933insA rs886053730
NM_001943.5(DSG2):c.*944del rs368604939
NM_001943.5(DSG2):c.*96C>G rs886053718
NM_001943.5(DSG2):c.-44C>A rs886053710
NM_001943.5(DSG2):c.-4T>G rs886053711
NM_001943.5(DSG2):c.1031A>T (p.Glu344Val) rs886053713
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1331C>T (p.Thr444Ile) rs2073222443
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser) rs886053714
NM_001943.5(DSG2):c.1583C>G (p.Pro528Arg) rs1023084089
NM_001943.5(DSG2):c.1648G>A (p.Glu550Lys) rs972736246
NM_001943.5(DSG2):c.182G>T (p.Gly61Val) rs779224655
NM_001943.5(DSG2):c.1863C>G (p.Ala621=) rs768150787
NM_001943.5(DSG2):c.1879+8T>C rs2073249877
NM_001943.5(DSG2):c.1932T>C (p.Phe644=) rs2073265410
NM_001943.5(DSG2):c.2019G>C (p.Leu673=) rs886053715
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) rs749897373
NM_001943.5(DSG2):c.2643C>A (p.Thr881=) rs180695545
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.828+10A>C rs886053712
NM_001943.5(DSG2):c.828+13C>A rs180926981
NM_001943.5(DSG2):c.968T>G (p.Ile323Arg) rs370140174
NM_002230.4(JUP):c.*1014C>T rs1292357653
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.*409C>G rs1025065671
NM_002230.4(JUP):c.*497A>T rs1913504384
NM_002230.4(JUP):c.*593C>T rs1913479153
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.1617G>A (p.Gln539=) rs1012247750
NM_002230.4(JUP):c.1705A>C (p.Ile569Leu) rs370101446
NM_002230.4(JUP):c.1718A>T (p.Asp573Val) rs886052918
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.2232G>A (p.Leu744=) rs1913590161
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.519G>A (p.Glu173=) rs1916176553
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.973G>A (p.Glu325Lys) rs781974007
NM_003239.5(TGFB3):c.-440CTT[2] rs774422953
NM_003239.5(TGFB3):c.-536del rs71451199
NM_003239.5(TGFB3):c.-536dup rs71451199
NM_004415.3(DSP):c.-260A>G rs886061738
NM_004415.4(DSP):c.*203A>G rs1198624922
NM_004415.4(DSP):c.*300C>A rs886061750
NM_004415.4(DSP):c.*305C>A rs886061751
NM_004415.4(DSP):c.*325A>G rs1759669252
NM_004415.4(DSP):c.*384C>A rs886061753
NM_004415.4(DSP):c.*386G>T rs886061754
NM_004415.4(DSP):c.*43T>A rs373414877
NM_004415.4(DSP):c.*598G>T rs886061756
NM_004415.4(DSP):c.*681C>A rs886061757
NM_004415.4(DSP):c.*762G>T rs1759684939
NM_004415.4(DSP):c.-104G>A rs1757981061
NM_004415.4(DSP):c.-179T>C rs886061741
NM_004415.4(DSP):c.-190G>T rs886061740
NM_004415.4(DSP):c.-228C>A rs886061739
NM_004415.4(DSP):c.-36C>A rs886061743
NM_004415.4(DSP):c.-70C>T rs1757982573
NM_004415.4(DSP):c.-76C>T rs377133467
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.2259G>A (p.Leu753=) rs1759156637
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile) rs1759210367
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser) rs749051278
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly) rs886061746
NM_004415.4(DSP):c.3423A>C (p.Gln1141His) rs759288257
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp) rs569786610
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4857G>C (p.Leu1619=) rs373385083
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala) rs1759528776
NM_004415.4(DSP):c.718G>C (p.Ala240Pro) rs1758741133
NM_004415.4(DSP):c.727-11T>C rs886061745
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004572.3(PKP2):c.-70C>T rs886049327
NM_004572.3(PKP2):c.-79G>T rs886049328
NM_004572.3(PKP2):c.-97_-93dup rs886049329
NM_024334.3(TMEM43):c.*1080G>T rs886058035
NM_024334.3(TMEM43):c.*1161C>A rs886058036
NM_024334.3(TMEM43):c.*1352_*1357del rs71699966
NM_024334.3(TMEM43):c.*1535T>C rs886058038
NM_024334.3(TMEM43):c.*1584G>T rs886058039
NM_024334.3(TMEM43):c.*1642T>G rs886058040
NM_024334.3(TMEM43):c.*1677dup rs886058041
NM_024334.3(TMEM43):c.*1700G>T rs886058042
NM_024334.3(TMEM43):c.*270T>C rs886058032
NM_024334.3(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024422.6(DSC2):c.*1003T>C rs1986642855
NM_024422.6(DSC2):c.*1126G>T rs886053687
NM_024422.6(DSC2):c.*1183G>A rs886053686
NM_024422.6(DSC2):c.*1453C>T rs886053683
NM_024422.6(DSC2):c.*1700T>C rs1986617619
NM_024422.6(DSC2):c.*1877T>G rs1986611103
NM_024422.6(DSC2):c.*1923C>A rs886053682
NM_024422.6(DSC2):c.*422C>T rs769685892
NM_024422.6(DSC2):c.*640G>T rs886053691
NM_024422.6(DSC2):c.*692A>G rs1986657464
NM_024422.6(DSC2):c.*705G>A rs372988931
NM_024422.6(DSC2):c.*709CT[3] rs886053690
NM_024422.6(DSC2):c.*764dup rs796836744
NM_024422.6(DSC2):c.*798T>C rs1208729636
NM_024422.6(DSC2):c.*833G>C rs886053689
NM_024422.6(DSC2):c.*926G>A rs1188292553
NM_024422.6(DSC2):c.*934C>A rs886053688
NM_024422.6(DSC2):c.-20A>C rs886053696
NM_024422.6(DSC2):c.-277T>A rs1567987522
NM_024422.6(DSC2):c.-365T>A rs775956339
NM_024422.6(DSC2):c.-392G>A rs886053702
NM_024422.6(DSC2):c.-409C>T rs1309020903
NM_024422.6(DSC2):c.-424G>T rs555722283
NM_024422.6(DSC2):c.-42C>T rs886053697
NM_024422.6(DSC2):c.-95C>G rs1386005114
NM_024422.6(DSC2):c.1077+9A>G rs369381870
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly) rs727502981
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) rs1987145211
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2205G>T (p.Gln735His) rs886053694
NM_024422.6(DSC2):c.2319A>T (p.Gly773=) rs1986736902
NM_024422.6(DSC2):c.2367A>T (p.Gly789=) rs886053693
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu) rs1987619959
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065

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