NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys)
|
rs201827489
|
0.00022
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
|
rs121918619
|
0.00006
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_001127222.2(CACNA1A):c.3989+11T>C
|
rs762686149
|
0.00004
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)
|
rs1413580671
|
0.00001
|
GRCh37/hg19 Xq28(chrX:153575976-153586768)
|
|
|
GRCh37/hg19 Xq28(chrX:153588672-153609996)
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)
|
rs1555728965
|
|
NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe)
|
rs1651725395
|
|
NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val)
|
rs1651907492
|
|
NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter)
|
rs148292941
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
|
rs2057372365
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile)
|
rs779292782
|
|
NM_001127222.2(CACNA1A):c.4089+18T>G
|
rs1600198282
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001165963.4(SCN1A):c.1028+2T>C
|
rs1698170849
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala)
|
rs1225530396
|
|
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter)
|
rs1271824691
|
|
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)
|
rs1697433995
|
|
NM_001165963.4(SCN1A):c.2177-10_2177-9insA
|
rs1553543440
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)
|
rs1691091949
|
|
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)
|
rs1689685377
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His)
|
rs1689242255
|
|
NM_001165963.4(SCN1A):c.602+3_602+6del
|
rs1698937795
|
|
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)
|
rs1698574524
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr)
|
rs1554971682
|
|
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)
|
rs1553403624
|
|
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)
|
rs757962437
|
|