NM_001232.4(CASQ2):c.*503G>A
|
rs72554068
|
0.00381
|
NM_001035.3(RYR2):c.14703G>C (p.Val4901=)
|
rs201371633
|
0.00013
|
NM_001232.3(CASQ2):c.-225G>A
|
rs535999427
|
0.00011
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly)
|
rs577376276
|
0.00005
|
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)
|
rs371711564
|
0.00003
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
NM_001035.3(RYR2):c.11039+7T>C
|
rs569571855
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_001035.3(RYR2):c.10844G>A (p.Arg3615Gln)
|
rs879255349
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12333C>T (p.Asn4111=)
|
rs748716535
|
0.00001
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
NM_001035.3(RYR2):c.2287G>A (p.Ala763Thr)
|
rs1306256963
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys)
|
rs1374332710
|
0.00001
|
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu)
|
rs761862949
|
0.00001
|
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys)
|
rs778821180
|
0.00001
|
NC_000001.10:g.(?_236902582)_(237205889_?)dup
|
|
|
NC_000001.10:g.(?_237205702)_(237519285_?)dup
|
|
|
NC_000001.10:g.(?_237205812)_(237205879_?)dup
|
|
|
NC_000001.10:g.(?_237433777)_(237532928_?)del
|
|
|
NC_000001.10:g.(?_237433797)_(237519285_?)dup
|
|
|
NC_000001.10:g.(?_237519255)_(237519295_?)del
|
|
|
NC_000001.10:g.(?_237580329)_(237965236_?)dup
|
|
|
NC_000001.10:g.(?_237580339)_(237995957_?)dup
|
|
|
NC_000001.10:g.(?_237655086)_(237995967_?)dup
|
|
|
NC_000001.10:g.(?_237893550)_(237995957_?)dup
|
|
|
NC_000001.10:g.(?_237941946)_(237995967_?)del
|
|
|
NC_000001.11:g.(?_115701231)_(115744922_?)dup
|
|
|
NC_000001.11:g.(?_237042512)_(237355995_?)dup
|
|
|
NC_000001.11:g.(?_237270487)_(237377445_?)dup
|
|
|
NC_000001.11:g.(?_237417039)_(237801926_?)dup
|
|
|
NC_000001.11:g.(?_237666502)_(237794007_?)del
|
|
|
NC_000001.11:g.(?_237756278)_(237832657_?)del
|
|
|
NC_000001.11:g.(?_237770797)_(237773658_?)del
|
|
|
NC_000006.11:g.(?_123536484)_(123959238_?)dup
|
|
|
NC_000006.11:g.(?_123539726)_(123957940_?)dup
|
|
|
NC_000006.11:g.(?_123539737)_(123957930_?)dup
|
|
|
NC_000006.11:g.(?_123581598)_(123581802_?)del
|
|
|
NC_000006.11:g.(?_123581747)_(123581793_?)del
|
|
|
NC_000006.11:g.(?_123586443)_(123588916_?)dup
|
|
|
NC_000006.11:g.(?_123818328)_(123825056_?)del
|
|
|
NC_000006.11:g.(?_123851641)_(123851720_?)del
|
|
|
NC_000006.12:g.(?_123260612)_(123260638_?)del
|
|
|
NC_000006.12:g.(?_123337609)_(123439013_?)dup
|
|
|
NC_000006.12:g.(?_123547330)_(123548622_?)del
|
|
|
NM_001035.3(RYR2):c.*1023G>T
|
rs886046304
|
|
NM_001035.3(RYR2):c.*1065A>G
|
rs886046305
|
|
NM_001035.3(RYR2):c.*1070G>T
|
rs886046306
|
|
NM_001035.3(RYR2):c.*167_*168dup
|
rs886046284
|
|
NM_001035.3(RYR2):c.*187C>A
|
rs886046285
|
|
NM_001035.3(RYR2):c.*206C>A
|
rs886046286
|
|
NM_001035.3(RYR2):c.*272C>A
|
rs886046287
|
|
NM_001035.3(RYR2):c.*354A>G
|
rs886046289
|
|
NM_001035.3(RYR2):c.*378C>A
|
rs886046290
|
|
NM_001035.3(RYR2):c.*578del
|
rs113047070
|
|
NM_001035.3(RYR2):c.*578dup
|
rs113047070
|
|
NM_001035.3(RYR2):c.*642A>C
|
rs886046297
|
|
NM_001035.3(RYR2):c.*646dup
|
rs377407067
|
|
NM_001035.3(RYR2):c.*715_*716insGC
|
rs886046302
|
|
NM_001035.3(RYR2):c.*716del
|
rs397983403
|
|
NM_001035.3(RYR2):c.*716dup
|
rs397983403
|
|
NM_001035.3(RYR2):c.*717GCCCCC[1]
|
rs886046299
|
|
NM_001035.3(RYR2):c.*79C>A
|
rs886046282
|
|
NM_001035.3(RYR2):c.*84del
|
rs764277833
|
|
NM_001035.3(RYR2):c.-20C>A
|
rs778527185
|
|
NM_001035.3(RYR2):c.-27C>A
|
rs886046260
|
|
NM_001035.3(RYR2):c.10255T>C (p.Phe3419Leu)
|
rs1405655091
|
|
NM_001035.3(RYR2):c.10323+13dup
|
rs886046276
|
|
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del)
|
rs1690562656
|
|
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg)
|
rs1692948853
|
|
NM_001035.3(RYR2):c.11189G>A (p.Arg3730Gln)
|
rs1060500157
|
|
NM_001035.3(RYR2):c.11236G>C (p.Ala3746Pro)
|
rs1692954476
|
|
NM_001035.3(RYR2):c.1153G>T (p.Gly385Ter)
|
rs1553453398
|
|
NM_001035.3(RYR2):c.11639G>C (p.Arg3880Thr)
|
rs766515965
|
|
NM_001035.3(RYR2):c.11754C>A (p.Asn3918Lys)
|
rs886046278
|
|
NM_001035.3(RYR2):c.12280A>G (p.Ile4094Val)
|
rs1573933519
|
|
NM_001035.3(RYR2):c.12289A>G (p.Asn4097Asp)
|
rs1695343403
|
|
NM_001035.3(RYR2):c.12322C>G (p.His4108Asp)
|
rs1250457347
|
|
NM_001035.3(RYR2):c.12519A>G (p.Ile4173Met)
|
rs1553322892
|
|
NM_001035.3(RYR2):c.1256T>G (p.Ile419Ser)
|
rs1553454866
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.13729A>G (p.Ile4577Val)
|
rs1658467547
|
|
NM_001035.3(RYR2):c.1372G>A (p.Asp458Asn)
|
rs1553458124
|
|
NM_001035.3(RYR2):c.14122T>G (p.Trp4708Gly)
|
rs397516513
|
|
NM_001035.3(RYR2):c.14161T>C (p.Tyr4721His)
|
rs1660612706
|
|
NM_001035.3(RYR2):c.1502G>A (p.Cys501Tyr)
|
rs1558850485
|
|
NM_001035.3(RYR2):c.2204-10C>A
|
rs886046264
|
|
NM_001035.3(RYR2):c.2948T>G (p.Leu983Arg)
|
rs1670048479
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
NM_001035.3(RYR2):c.3807+4T>A
|
rs1572996258
|
|
NM_001035.3(RYR2):c.4183C>G (p.Pro1395Ala)
|
rs1553515418
|
|
NM_001035.3(RYR2):c.4430A>C (p.His1477Pro)
|
rs1461139776
|
|
NM_001035.3(RYR2):c.4747_4748insT (p.Pro1583fs)
|
rs1677768338
|
|
NM_001035.3(RYR2):c.4920C>A (p.Asp1640Glu)
|
rs886046267
|
|
NM_001035.3(RYR2):c.4941G>A (p.Gln1647=)
|
rs727504997
|
|
NM_001035.3(RYR2):c.4972C>T (p.Leu1658Phe)
|
rs767540663
|
|
NM_001035.3(RYR2):c.5078A>G (p.Tyr1693Cys)
|
rs886046268
|
|
NM_001035.3(RYR2):c.5315G>A (p.Ser1772Asn)
|
rs1559116458
|
|
NM_001035.3(RYR2):c.570G>T (p.Arg190Ser)
|
rs397516544
|
|
NM_001035.3(RYR2):c.6192G>T (p.Glu2064Asp)
|
rs1679843736
|
|
NM_001035.3(RYR2):c.6475C>T (p.Pro2159Ser)
|
rs1573222038
|
|
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile)
|
rs794728821
|
|
NM_001035.3(RYR2):c.7156A>G (p.Asn2386Asp)
|
rs1553264670
|
|
NM_001035.3(RYR2):c.7390C>G (p.His2464Asp)
|
rs1682397546
|
|
NM_001035.3(RYR2):c.7533del (p.Asp2511fs)
|
rs1553268185
|
|
NM_001035.3(RYR2):c.7585A>T (p.Thr2529Ser)
|
rs1682562289
|
|
NM_001035.3(RYR2):c.8591-4T>G
|
rs1553277202
|
|
NM_001035.3(RYR2):c.907G>A (p.Gly303Arg)
|
rs1705766226
|
|
NM_001035.3(RYR2):c.9578C>G (p.Ala3193Gly)
|
rs1412111895
|
|
NM_001232.3(CASQ2):c.-221_-220GT[10]
|
rs72554067
|
|
NM_001232.3(CASQ2):c.-221_-220GT[11]
|
rs72554067
|
|
NM_001232.3(CASQ2):c.-221_-220GT[12]
|
rs72554067
|
|
NM_001232.3(CASQ2):c.-221_-220GT[5]
|
rs72554067
|
|
NM_001232.4(CASQ2):c.*1017dup
|
rs11347859
|
|
NM_001232.4(CASQ2):c.*1183CTAA[1]
|
rs886045155
|
|
NM_001232.4(CASQ2):c.-206_-205dup
|
rs72554067
|
|
NM_001232.4(CASQ2):c.-212_-211insATGTGT
|
rs886045162
|
|
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC
|
rs886045163
|
|
NM_001232.4(CASQ2):c.-219_-218insCGTGTG
|
rs886045164
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_006073.4(TRDN):c.*1456CA[3]
|
rs764560250
|
|
NM_006073.4(TRDN):c.1052-9C>T
|
rs765883002
|
|
NM_006073.4(TRDN):c.109A>T (p.Thr37Ser)
|
rs1554258810
|
|
NM_006073.4(TRDN):c.1720G>A (p.Ala574Thr)
|
rs866787639
|
|
NM_006073.4(TRDN):c.233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.233-15_233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.425-4_425-3insLINE1
|
|
|
NM_006073.4(TRDN):c.932-6C>A
|
rs886061033
|
|