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
|
|