NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00005
|
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val)
|
rs772819993
|
0.00001
|
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)
|
rs780233639
|
0.00001
|
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)
|
rs775080915
|
0.00001
|
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)
|
rs574115531
|
0.00001
|
NM_002641.4(PIGA):c.247C>G (p.Leu83Val)
|
rs1335237092
|
0.00001
|
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr)
|
rs745463637
|
0.00001
|
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)
|
rs751736902
|
0.00001
|
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)
|
rs730881187
|
0.00001
|
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr)
|
rs1419914220
|
0.00001
|
NC_000016.10:c.(605+1_606-1)_(1056+1_1057-1)dup
|
|
|
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)
|
|
|
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)
|
rs796053365
|
|
NM_001040142.2(SCN2A):c.1154del (p.Phe385fs)
|
rs879253767
|
|
NM_001040142.2(SCN2A):c.1552G>T (p.Glu518Ter)
|
rs1553569732
|
|
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
|
|
|
NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys)
|
rs1435095726
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)
|
rs1351010453
|
|
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)
|
rs2105868295
|
|
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)
|
rs796052957
|
|
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln)
|
rs758936777
|
|
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
|
|
|
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser)
|
rs1370595536
|
|
NM_001271.4(CHD2):c.2324_2328del (p.Glu775fs)
|
|
|
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser)
|
rs780995899
|
|
NM_004366.6(CLCN2):c.1550C>T (p.Thr517Met)
|
rs1458831101
|
|
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr)
|
rs2138661267
|
|
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
|
|
|
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)
|
|
|
NM_021072.4(HCN1):c.928C>T (p.His310Tyr)
|
rs2111627182
|
|
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp)
|
rs1554397831
|
|
NM_172107.4(KCNQ2):c.1080G>A (p.Trp360Ter)
|
rs1600732174
|
|
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
|
|
|
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter)
|
rs1373545506
|
|