|
NM_000726.5(CACNB4):c.331G>A (p.Val111Met)
|
rs764764389
|
0.00001
|
|
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His)
|
rs765965968
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
|
GRCh37/hg19 16p13.3(chr16:2229815-2582030)x4
|
|
|
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GRCh37/hg19 3p25.3(chr3:11076181-11078707)x1
|
|
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GRCh37/hg19 3p25.3(chr3:9974258-11078781)x1
|
|
|
|
GRCh37/hg19 9q34.11(chr9:131295791-131419128)x1
|
|
|
|
NM_000330.4(RS1):c.637C>T (p.Arg213Trp)
|
rs281865365
|
|
|
NM_001040142.2(SCN2A):c.4379G>A (p.Gly1460Asp)
|
|
|
|
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
|
NM_001127222.2(CACNA1A):c.1862del (p.Phe621fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3882+2T>C
|
rs2057168559
|
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
|
NM_001130438.3(SPTAN1):c.1649del (p.Ala550fs)
|
|
|
|
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)
|
rs1853920585
|
|
|
NM_001130438.3(SPTAN1):c.5768dup (p.Asp1923fs)
|
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
|
NM_001161352.2(KCNMA1):c.33_34del (p.Ser11fs)
|
|
|
|
NM_001199107.2(TBC1D24):c.857T>C (p.Leu286Pro)
|
|
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
|
NM_001271.4(CHD2):c.4780C>T (p.Gln1594Ter)
|
|
|
|
NM_001371727.1(GABRB2):c.754C>G (p.Pro252Ala)
|
rs869312861
|
|
|
NM_003042.4(SLC6A1):c.-93G>A
|
|
|
|
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)
|
rs1064795099
|
|
|
NM_004974.4(KCNA2):c.1225A>C (p.Ile409Leu)
|
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
|
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
|
|
|
|
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter)
|
rs1555321237
|
|
|
NM_006516.4(SLC2A1):c.458G>A (p.Arg153His)
|
rs794727642
|
|
|
NM_006516.4(SLC2A1):c.972+5G>A
|
|
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
|
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter)
|
rs1554122244
|
|
|
NM_006772.3(SYNGAP1):c.692_693dup (p.Ala232fs)
|
|
|
|
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
|
|
|
|
NM_052874.5(STX1B):c.160A>T (p.Lys54Ter)
|
rs2143677745
|
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
|
NM_152743.4(BRAT1):c.856dup (p.Ala286fs)
|
|
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
|
NM_172107.4(KCNQ2):c.950C>T (p.Ala317Val)
|
|
|
|
NM_177550.5(SLC13A5):c.368+1G>A
|
|
|