NM_006073.4(TRDN):c.1864A>G (p.Ser622Gly)
|
rs577376276
|
0.00005
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_001035.3(RYR2):c.2287G>A (p.Ala763Thr)
|
rs1306256963
|
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.10255T>C (p.Phe3419Leu)
|
rs1405655091
|
|
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del)
|
rs1690562656
|
|
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.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.1256T>G (p.Ile419Ser)
|
rs1553454866
|
|
NM_001035.3(RYR2):c.13729A>G (p.Ile4577Val)
|
rs1658467547
|
|
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.2948T>G (p.Leu983Arg)
|
rs1670048479
|
|
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.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_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.425-4_425-3insLINE1
|
|
|