ClinVar Miner

List of variants reported as pathogenic for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 948
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 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_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1671del (p.Asp557fs) rs794729129 0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) rs1486464304 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) rs1158333072 0.00001
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) rs762753884 0.00001
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) rs794728086 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.690+1G>A rs750176752 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) rs1468290898 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.69+1G>A rs1245669690 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
GRCh37/hg19 1q43(chr1:237413038-237540797)
NC_000001.10:g.(?_116269603)_(116269753_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.12:g.(?_7541896)_(7585898_?)del
NC_000006.12:g.(?_7541906)_(7585888_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NC_000006.12:g.123503896TCTGT[1]
NC_000012.11:g.(?_32945338)_(32977116_?)del
NC_000012.11:g.(?_32945348)_(32949242_?)del
NC_000012.11:g.(?_32945358)_(32949252_?)del
NC_000012.11:g.(?_32949023)_(32955510_?)del
NC_000012.11:g.(?_32949033)_(32955500_?)del
NC_000012.11:g.(?_33003680)_(33003927_?)del
NC_000012.11:g.(?_33003694)_(33003913_?)del
NC_000012.11:g.(?_33021841)_(33022016_?)del
NC_000012.11:g.(?_33021841)_(33031986_?)del
NC_000012.11:g.(?_33021851)_(33031976_?)del
NC_000012.11:g.(?_33030760)_(33031986_?)del
NC_000012.11:g.(?_33030760)_(33049665_?)del
NC_000012.12:g.(?_32792404)_(32896751_?)del
NC_000012.12:g.(?_32792414)_(32896741_?)del
NC_000012.12:g.(?_32802383)_(32802576_?)del
NC_000012.12:g.(?_32824025)_(32824182_?)del
NC_000012.12:g.(?_32824035)_(32824172_?)del
NC_000012.12:g.(?_32850756)_(32850983_?)del
NC_000012.12:g.(?_32868917)_(32869072_?)del
NC_000012.12:g.(?_32877836)_(32879042_?)del
NC_000012.12:g.(?_32877836)_(32896741_?)del
NC_000012.12:g.(?_32877846)_(32879032_?)del
NC_000017.11:g.(?_41771637)_(41771864_?)del
NC_000018.10:g.(?_31070706)_(31070870_?)del
NC_000018.10:g.(?_31092081)_(31101991_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673522)_(28673606_?)del
NC_000018.9:g.(?_28681846)_(28681934_?)del
NC_000018.9:g.(?_29115213)_(29126706_?)del
NC_000018.9:g.(?_29115223)_(29118951_?)del
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=) rs1060499941
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_001005242.3(PKP2):c.1127del (p.Phe376fs) rs2137919527
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1170+1G>C
NM_001005242.3(PKP2):c.1170+1G>T
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1217_1379-790inv
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
NM_001005242.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs) rs1393661338
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>A rs397516994
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-1992C>T rs2137837678
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter) rs2137831087
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs) rs794729125
NM_001005242.3(PKP2):c.1410del (p.Lys470fs) rs1565586958
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs) rs1565586921
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.152_153del (p.Val51fs) rs1957127435
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs) rs1064796069
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1557-2A>G rs1555143143
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs) rs1555143134
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs) rs2137783366
NM_001005242.3(PKP2):c.1625del (p.Leu542fs) rs1060501182
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe) rs1060501186
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
NM_001005242.3(PKP2):c.172G>T (p.Glu58Ter)
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter) rs1956391770
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter) rs2137777670
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter) rs1957126844
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs) rs1956378850
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) rs397517015
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) rs1064792929
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2013+2T>C
NM_001005242.3(PKP2):c.2014-1_2014del
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter) rs1325285497
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) rs1956192249
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) rs1956192035
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs) rs878854710
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs) rs1592729525
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2276del (p.Ile759fs) rs1956120988
NM_001005242.3(PKP2):c.2282del (p.Asn761fs) rs1956120794
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs) rs2137698036
NM_001005242.3(PKP2):c.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs) rs2137952811
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
NM_001005242.3(PKP2):c.329dup (p.Met110fs) rs2137952495
NM_001005242.3(PKP2):c.336+1G>T rs2137952423
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
NM_001005242.3(PKP2):c.379dup (p.Thr127fs) rs2137950985
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
NM_001005242.3(PKP2):c.464dup (p.Ser155fs) rs2137950376
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs) rs2137950267
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter) rs1565599473
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter) rs794729103
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs) rs2137948074
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
NM_001005242.3(PKP2):c.929_951dup (p.His318fs) rs1064792927
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs) rs2137946195
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155
NM_001005242.3(PKP2):c.987del (p.Ser329fs) rs1432861552
NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer)
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp) rs1226397753
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln) rs794728778
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu) rs1064794210
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) rs1553454821
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys) rs794728781
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu) rs2149353116
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) rs771994461
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr) rs761834154
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) rs1234449785
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr) rs2149353940
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) rs1558405653
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His) rs2149354441
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu) rs2149388042
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu) rs2149388137
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys) rs2149437479
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) rs1291829047
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) rs1553339086
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile) rs2102926494
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser) rs2102947297
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg) rs1701129738
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) rs1558103974
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys) rs1060500156
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu) rs2148724390
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) rs794728746
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp) rs794728747
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala) rs121918603
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) rs121918601
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys) rs2148739141
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys) rs2148789775
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp) rs1682561583
NM_001232.4(CASQ2):c.1014+1G>A rs1654250819
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) rs1553191909
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) rs1648034747
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) rs375598471
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) rs1471576368
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) rs767023791
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) rs568089577
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro) rs965753331
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs) rs2144332585
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter) rs1375012922
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter) rs2144346522
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs) rs1252006527
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) rs200201181
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs) rs2144359029
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) rs1567934720
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter) rs1452179158
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.290del (p.Pro97fs)
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
NM_001943.5(DSG2):c.423del (p.Lys141fs) rs2073125384
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.498del (p.Ser167fs)
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_001943.5(DSG2):c.527_533del (p.Thr176fs) rs2144317658
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer) rs2144317934
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_001943.5(DSG2):c.649dup (p.Thr217fs) rs1598811394
NM_001943.5(DSG2):c.676_680del (p.Thr226fs) rs2144318119
NM_001943.5(DSG2):c.745dup (p.Thr249fs) rs2073148989
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) rs121913011
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.909del (p.Asp304fs) rs2144322985
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter) rs2144323019
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
NM_002230.4(JUP):c.1455_1462del (p.Val486fs) rs1597801392
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) rs2143456924
NM_002230.4(JUP):c.1807del (p.Val603fs) rs1597782553
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) rs2143426682
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) rs2143416425
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) rs2143697976
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.532_542del (p.Ala178fs) rs2143683612
NM_002230.4(JUP):c.545C>A (p.Ser182Ter) rs145592971
NM_002230.4(JUP):c.654del (p.Leu219fs) rs2143680611
NM_002230.4(JUP):c.687del (p.Ala230fs)
NM_002230.4(JUP):c.71C>A (p.Ser24Ter) rs782460555
NM_002230.4(JUP):c.781_796del (p.Lys261fs) rs2143651415
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_003239.5(TGFB3):c.411del (p.Ser138fs) rs2035295129
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter) rs146296069
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.2146-?_2489+?del
NM_006073.4(TRDN):c.22+1G>T rs1290195833
NM_006073.4(TRDN):c.232+2T>A rs1554258777
NM_006073.4(TRDN):c.232+2T>C
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.334del (p.Asp112fs)
NM_006073.4(TRDN):c.423del (p.Glu142fs) rs757805966
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.439_440del (p.Lys147fs) rs2114339116
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
NM_006073.4(TRDN):c.483del (p.Val162fs)
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.568dup (p.Ile190fs) rs1085307100
NM_006073.4(TRDN):c.573dup (p.Lys192fs) rs1554251609
NM_006073.4(TRDN):c.618del (p.Ala208fs) rs1060502114
NM_006073.4(TRDN):c.91del (p.Val31fs) rs2114537918
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) rs587777134
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) rs768389941
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) rs1373100329
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) rs2144850365
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
NM_024422.6(DSC2):c.133del (p.Ala45fs)
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) rs1987170019
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) rs1987161799
NM_024422.6(DSC2):c.1571del (p.Thr524fs) rs2144812824
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) rs2144800227
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) rs2144799555
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) rs2144788632
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) rs769022411
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) rs1987624232
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter) rs1555641322
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024422.6(DSC2):c.729del (p.Phe243fs) rs2144833653
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134

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