NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)
|
rs760246258
|
0.00013
|
NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)
|
rs112282456
|
0.00010
|
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
|
rs201192904
|
0.00010
|
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)
|
rs372631097
|
0.00006
|
NM_000540.3(RYR1):c.6891+3G>T
|
rs373333757
|
0.00006
|
NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu)
|
rs149188892
|
0.00005
|
NM_000540.3(RYR1):c.3043C>T (p.Arg1015Cys)
|
rs139006437
|
0.00004
|
NM_000540.3(RYR1):c.13069C>A (p.Leu4357Met)
|
rs1236057233
|
0.00003
|
NM_000083.3(CLCN1):c.517C>T (p.Leu173Phe)
|
rs1554434802
|
0.00002
|
NM_000540.3(RYR1):c.5962G>A (p.Ala1988Thr)
|
rs763360938
|
0.00002
|
NM_000083.3(CLCN1):c.1863A>G (p.Thr621=)
|
rs369099862
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)
|
rs80338792
|
0.00001
|
NM_000540.3(RYR1):c.3145G>A (p.Gly1049Ser)
|
rs990842315
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)
|
rs768119034
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|