|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
|
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00012
|
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
|
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)
|
rs1595438268
|
|
|
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
|
|
|
|
NM_001032221.6(STXBP1):c.1462-2A>C
|
|
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
|
NM_001032221.6(STXBP1):c.170-2A>G
|
rs1554776674
|
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
|
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
|
|
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
|
NM_001032221.6(STXBP1):c.794+1G>A
|
rs1554777496
|
|
|
NM_001032221.6(STXBP1):c.795-1G>A
|
rs1554777708
|
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
|
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
|
|
|
|
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter)
|
rs1064794730
|
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
|
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)
|
rs796053166
|
|
|
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)
|
rs1064795014
|
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
|
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
|
rs2058143736
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
|
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
|
|
|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
|
|
|
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)
|
rs2153935815
|
|
|
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
|
|
|
|
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
|
|
|
|
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter)
|
rs2106220962
|
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
|
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
|
|
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
|
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
|
|
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
|
NM_015047.3(EMC1):c.661C>T (p.Gln221Ter)
|
|
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
|
NM_016373.4(WWOX):c.606-1778_792-2744del
|
|
|
|
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
|
|
|
|
NM_020706.2(SCAF4):c.749del (p.Pro250fs)
|
rs2123578933
|
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
|
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)
|
rs1596787821
|
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
|
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
|
|
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
|
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
|
|
|
|
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
|
|
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|