NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000540.3(RYR1):c.1598G>A (p.Arg533His)
|
rs144336148
|
0.00029
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
|
rs763827415
|
0.00008
|
NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val)
|
rs149096607
|
0.00007
|
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)
|
rs150158100
|
0.00005
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp)
|
rs140037232
|
0.00003
|
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)
|
rs772150974
|
0.00002
|
NM_000334.4(SCN4A):c.2809A>C (p.Thr937Pro)
|
rs752396330
|
0.00002
|
NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)
|
rs755878800
|
0.00002
|
NM_000083.3(CLCN1):c.1063G>A (p.Gly355Arg)
|
rs767000881
|
0.00001
|
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)
|
rs1282349760
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000083.3(CLCN1):c.937G>A (p.Ala313Thr)
|
rs80356692
|
0.00001
|
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)
|
rs80338789
|
0.00001
|
NM_000334.4(SCN4A):c.3904A>C (p.Lys1302Gln)
|
rs1555601285
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000540.3(RYR1):c.10760A>G (p.Asp3587Gly)
|
rs778763130
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp)
|
rs193922826
|
0.00001
|
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)
|
|
|
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)
|
rs759761559
|
|
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
|
|
|
NM_000083.3(CLCN1):c.1251G>A (p.Glu417=)
|
|
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1586C>T (p.Ala529Val)
|
|
|
NM_000083.3(CLCN1):c.1673C>T (p.Pro558Leu)
|
|
|
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)
|
rs1803111906
|
|
NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)
|
rs1554434400
|
|
NM_000083.3(CLCN1):c.2401G>T (p.Glu801Ter)
|
rs1131691551
|
|
NM_000083.3(CLCN1):c.302-1G>A
|
rs529377088
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)
|
rs797045032
|
|
NM_000083.3(CLCN1):c.918C>A (p.Phe306Leu)
|
|
|
NM_000083.3(CLCN1):c.980-3C>G
|
rs1802714707
|
|
NM_000334.4(SCN4A):c.1298T>G (p.Leu433Arg)
|
|
|
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)
|
rs121908556
|
|
NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)
|
rs80338957
|
|
NM_000334.4(SCN4A):c.2905G>A (p.Asp969Asn)
|
rs2144784455
|
|
NM_000334.4(SCN4A):c.2995G>T (p.Val999Leu)
|
|
|
NM_000334.4(SCN4A):c.3703C>T (p.Leu1235Phe)
|
|
|
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)
|
rs80338792
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)
|
rs121908548
|
|
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)
|
rs1064794243
|
|
NM_000540.3(RYR1):c.236A>T (p.Glu79Val)
|
|
|