NM_152743.4(BRAT1):c.283-2A>T
|
rs147005619
|
0.00006
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)
|
rs138827421
|
0.00002
|
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile)
|
rs756238700
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001367561.1(DOCK7):c.4380-1G>T
|
rs774949595
|
0.00002
|
NM_006279.5(ST3GAL3):c.166+1G>A
|
rs148531289
|
0.00002
|
NM_007254.4(PNKP):c.1387-2A>G
|
rs766419491
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val)
|
rs759121197
|
0.00001
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu)
|
rs767045134
|
0.00001
|
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile)
|
rs748816300
|
0.00001
|
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg)
|
rs1248613652
|
0.00001
|
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met)
|
rs121918738
|
0.00001
|
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His)
|
rs922514173
|
0.00001
|
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)
|
rs1689707865
|
0.00001
|
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)
|
rs528239871
|
0.00001
|
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)
|
rs796053043
|
0.00001
|
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly)
|
rs762927460
|
0.00001
|
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)
|
rs754032480
|
0.00001
|
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)
|
rs398123601
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
NM_001367561.1(DOCK7):c.819-1G>A
|
rs763358033
|
0.00001
|
NM_006030.4(CACNA2D2):c.2234+1G>A
|
rs749539763
|
0.00001
|
NM_007254.4(PNKP):c.1188+1G>A
|
rs1057518102
|
0.00001
|
NM_007254.4(PNKP):c.1298+1_1298+10del
|
rs1568658916
|
0.00001
|
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
|
rs775807509
|
0.00001
|
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)
|
rs375711140
|
0.00001
|
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser)
|
rs746055240
|
0.00001
|
NM_177550.5(SLC13A5):c.548-2A>G
|
rs966681982
|
0.00001
|
NM_203446.3(SYNJ1):c.1201-2A>G
|
rs1569086116
|
0.00001
|
NC_000001.10:g.(?_245025750)_(245027576_?)del
|
|
|
NC_000001.10:g.(?_44257753)_(44365419_?)dup
|
|
|
NC_000001.10:g.(?_44360035)_(44482805_?)del
|
|
|
NC_000002.11:g.(?_166210682)_(166211201_?)del
|
|
|
NC_000002.11:g.(?_166231283)_(166236819_?)del
|
|
|
NC_000002.11:g.(?_166237239)_(166239066_?)del
|
|
|
NC_000002.11:g.(?_166847976)_(166851014_?)del
|
|
|
NC_000002.12:g.(?_165342276)_(165389844_?)del
|
|
|
NC_000003.11:g.(?_50403254)_(50407651_?)del
|
|
|
NC_000007.13:g.(?_2580991)_(2581540_?)del
|
|
|
NC_000009.12:g.(?_127672031)_(127676773_?)del
|
|
|
NC_000009.12:g.(?_127678411)_(127690877_?)del
|
|
|
NC_000015.9:g.(?_93540167)_(93540653_?)dup
|
|
|
NC_000015.9:g.(?_93547827)_(93558159_?)dup
|
|
|
NC_000016.10:g.(?_78278583)_(78432772_?)del
|
|
|
NC_000016.10:g.(?_78432468)_(78432772_?)del
|
|
|
NC_000016.9:g.(?_78143655)_(78466669_?)dup
|
|
|
NC_000016.9:g.(?_78148926)_(78166880_?)del
|
|
|
NC_000016.9:g.(?_78420737)_(78420865_?)dup
|
|
|
NC_000016.9:g.(?_78458747)_(78466669_?)dup
|
|
|
NC_000019.10:g.(?_13259544)_(13259721_?)del
|
|
|
NC_000019.9:g.(?_13340886)_(13342684_?)del
|
|
|
NC_000019.9:g.(?_13445172)_(13446743_?)dup
|
|
|
NC_000019.9:g.(?_13474954)_(13476240_?)del
|
|
|
NC_000020.10:g.(?_62050952)_(62070093_?)dup
|
|
|
NC_000020.10:g.(?_62050952)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62055510)_(62073904_?)dup
|
|
|
NC_000020.10:g.(?_62062673)_(62065276_?)dup
|
|
|
NC_000020.10:g.(?_62065192)_(62071475_?)del
|
|
|
NC_000020.10:g.(?_62069958)_(62070093_?)del
|
|
|
NC_000020.10:g.(?_62069958)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_8661338)_(8678351_?)del
|
|
|
NC_000020.10:g.(?_8665559)_(8770928_?)dup
|
|
|
NC_000020.11:g.(?_63406624)_(63407395_?)del
|
|
|
NC_000021.8:g.(?_34029319)_(34031816_?)del
|
|
|
NC_000023.10:g.(?_18582577)_(18627710_?)dup
|
|
|
NC_000023.10:g.(?_18582577)_(18631415_?)dup
|
|
|
NC_000023.10:g.(?_62875364)_(62944601_?)del
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)dup
|
|
|
NC_000023.10:g.(?_99640151)_(99663517_?)del
|
|
|
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val)
|
rs1591643530
|
|
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
|
|
|
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
|
|
|
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
|
|
|
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg)
|
rs2136470509
|
|
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser)
|
rs1949321492
|
|
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val)
|
rs1591612279
|
|
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
|
|
|
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
|
|
|
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val)
|
rs1591605514
|
|
NM_000834.5(GRIN2B):c.412-2A>G
|
rs2136629609
|
|
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)
|
rs1841611651
|
|
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)
|
rs886041337
|
|
NM_001032221.6(STXBP1):c.1110+1G>A
|
|
|
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)
|
rs886041668
|
|
NM_001032221.6(STXBP1):c.1250-2A>G
|
|
|
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
|
|
|
NM_001032221.6(STXBP1):c.1360-2A>C
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1360-2A>T
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
|
rs1841869298
|
|
NM_001032221.6(STXBP1):c.1461+1G>A
|
|
|
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)
|
rs2131535795
|
|
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)
|
rs1842044505
|
|
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)
|
rs796053374
|
|
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)
|
rs1554776228
|
|
NM_001032221.6(STXBP1):c.218_246+22del
|
rs2132460935
|
|
NM_001032221.6(STXBP1):c.325+2T>A
|
rs1840976417
|
|
NM_001032221.6(STXBP1):c.326-1G>T
|
rs1554776948
|
|
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)
|
rs2131454649
|
|
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)
|
rs1060501724
|
|
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)
|
rs2131462357
|
|
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
|
|
|
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal)
|
rs2131481685
|
|
NM_001032221.6(STXBP1):c.87+1G>A
|
rs796053350
|
|
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)
|
rs1840653229
|
|
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)
|
rs1840653547
|
|
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu)
|
rs1697569337
|
|
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
|
|
|
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu)
|
rs2105255430
|
|
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)
|
rs796053181
|
|
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly)
|
rs796053183
|
|
NM_001040142.2(SCN2A):c.1672-2A>G
|
|
|
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val)
|
rs1698670041
|
|
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)
|
rs1574636716
|
|
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
|
rs1699366355
|
|
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val)
|
rs1699475919
|
|
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)
|
rs1574641522
|
|
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
|
|
|
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
|
rs2105318837
|
|
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
|
rs796053121
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)
|
rs2105319172
|
|
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)
|
rs2105319200
|
|
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu)
|
rs2105319230
|
|
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
|
|
|
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
|
|
|
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
|
rs1553583544
|
|
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly)
|
rs1700069881
|
|
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys)
|
rs2105336842
|
|
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del)
|
rs1700070748
|
|
NM_001040142.2(SCN2A):c.3520+1G>T
|
|
|
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro)
|
rs1700783234
|
|
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg)
|
rs2105365343
|
|
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro)
|
rs1701139863
|
|
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
|
|
|
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)
|
rs190111194
|
|
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
|
|
|
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
|
|
|
NM_001040142.2(SCN2A):c.3973-2A>G
|
rs1701219319
|
|
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly)
|
rs1553593578
|
|
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)
|
rs121917749
|
|
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
|
|
|
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn)
|
rs1483179196
|
|
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr)
|
rs2105373101
|
|
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val)
|
rs1308555812
|
|
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
|
rs1574716488
|
|
NM_001040142.2(SCN2A):c.4255-6T>A
|
rs1701381827
|
|
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)
|
rs1085307898
|
|
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
|
|
|
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)
|
rs2105385669
|
|
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val)
|
rs2105385694
|
|
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
|
|
|
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val)
|
rs2105385817
|
|
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
|
|
|
NM_001040142.2(SCN2A):c.4552-2A>G
|
|
|
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
|
rs1057519524
|
|
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
|
|
|
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala)
|
rs1702003246
|
|
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys)
|
rs1702003567
|
|
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
|
|
|
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)
|
rs796053160
|
|
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
|
|
|
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
|
rs1702006673
|
|
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
|
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
|
|
|
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
|
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
|
|
|
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys)
|
rs1553463772
|
|
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr)
|
rs2105403619
|
|
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn)
|
rs1702039582
|
|
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val)
|
rs2105243497
|
|
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)
|
rs1559352517
|
|
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser)
|
rs2105244912
|
|
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile)
|
rs2105245017
|
|
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala)
|
rs1553567561
|
|
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr)
|
rs1064795014
|
|
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
|
|
|
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
|
|
|
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
|
|
|
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
|
|
|
NM_001127221.2(CACNA1A):c.5532-2A>G
|
|
|
NM_001127221.2(CACNA1A):c.5585C>T (p.Pro1862Leu)
|
rs2144616690
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1345+1G>A
|
rs2145114772
|
|
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1555+2del
|
rs1600313212
|
|
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
|
|
|
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
|
|
|
NM_001127222.2(CACNA1A):c.1913+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
|
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3823-1G>C
|
|
|
NM_001127222.2(CACNA1A):c.399+1G>A
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)
|
rs1064794858
|
|
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
|
|
|
NM_001127222.2(CACNA1A):c.4089+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)
|
rs2144767386
|
|
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)
|
rs1568447557
|
|
NM_001127222.2(CACNA1A):c.5068-1G>A
|
rs2144648058
|
|
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)
|
rs2144647916
|
|
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)
|
rs2144647855
|
|
NM_001127222.2(CACNA1A):c.5133+2T>A
|
|
|
NM_001127222.2(CACNA1A):c.5134-2del
|
|
|
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del)
|
rs2055675454
|
|
NM_001127222.2(CACNA1A):c.540-1G>C
|
rs2144559526
|
|
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
|
|
|
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)
|
rs2055612479
|
|
NM_001127222.2(CACNA1A):c.5839+1G>C
|
rs951196653
|
|
NM_001127222.2(CACNA1A):c.5840-2A>G
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.5840-2A>T
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5940+1G>A
|
rs2144535495
|
|
NM_001127222.2(CACNA1A):c.6189+1G>A
|
rs2144524396
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
NM_001127222.2(CACNA1A):c.631+2T>C
|
|
|
NM_001127222.2(CACNA1A):c.676_784+1178del
|
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1086-2A>C
|
rs2131028639
|
|
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
|
|
|
NM_001130438.3(SPTAN1):c.1572+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg)
|
rs886063501
|
|
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val)
|
rs2131193011
|
|
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
|
|
|
NM_001130438.3(SPTAN1):c.3520-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.363+1G>A
|
rs1554737064
|
|
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)
|
rs2131744077
|
|
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
|
rs1858423393
|
|
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val)
|
rs2131965427
|
|
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys)
|
rs1193718145
|
|
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg)
|
rs1851359623
|
|
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
|
rs1589393179
|
|
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
|
rs1589416130
|
|
NM_001130438.3(SPTAN1):c.6959+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu)
|
rs1554769099
|
|
NM_001130438.3(SPTAN1):c.7161-2_7174del
|
rs2132105386
|
|
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp)
|
rs1553548096
|
|
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala)
|
rs121918753
|
|
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)
|
rs794726844
|
|
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
|
|
|
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser)
|
rs2105867993
|
|
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp)
|
rs1553547528
|
|
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
|
|
|
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr)
|
rs1698007004
|
|
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
|
|
|
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)
|
rs1698003832
|
|
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu)
|
rs121917939
|
|
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala)
|
rs1697999557
|
|
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro)
|
rs1697998959
|
|
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys)
|
rs1697998080
|
|
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)
|
rs746413385
|
|
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
|
|
|
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val)
|
rs2105862847
|
|
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
|
|
|
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
|
|
|
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
|
|
|
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr)
|
rs794726725
|
|
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del)
|
rs2105862483
|
|
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn)
|
rs398123581
|
|
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val)
|
rs1697904829
|
|
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
|
|
|
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
|
|
|
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
|
|
|
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr)
|
rs1684680680
|
|
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe)
|
rs1697647054
|
|
NM_001165963.4(SCN1A):c.1662+3A>G
|
rs794726773
|
|
NM_001165963.4(SCN1A):c.1663-2A>G
|
rs1085307520
|
|
NM_001165963.4(SCN1A):c.1663-3_1663-2del
|
|
|
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)
|
rs1057518703
|
|
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly)
|
rs1697479557
|
|
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup)
|
rs1553560740
|
|
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
|
|
|
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
|
|
|
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
|
|
|
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile)
|
rs2105827770
|
|
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val)
|
rs1697134047
|
|
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
|
|
|
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)
|
rs121918782
|
|
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
|
|
|
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
|
|
|
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn)
|
rs1696888691
|
|
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
|
rs1684663181
|
|
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
|
|
|
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
|
|
|
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
|
|
|
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
|
|
|
NM_001165963.4(SCN1A):c.2590-3_2601del
|
|
|
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
|
|
|
NM_001165963.4(SCN1A):c.264+1G>A
|
|
|
NM_001165963.4(SCN1A):c.264+1G>C
|
rs1553560677
|
|
NM_001165963.4(SCN1A):c.264+3G>C
|
rs746440689
|
|
NM_001165963.4(SCN1A):c.265-3C>G
|
rs1553553614
|
|
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg)
|
rs1064795735
|
|
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)
|
rs2105807206
|
|
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
|
|
|
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys)
|
rs1553541303
|
|
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)
|
rs796052987
|
|
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu)
|
rs1696628056
|
|
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg)
|
rs2105806431
|
|
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
|
|
|
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln)
|
rs121918786
|
|
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
|
|
|
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val)
|
rs878854262
|
|
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp)
|
rs1041924436
|
|
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser)
|
rs2105806212
|
|
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
|
|
|
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile)
|
rs1553541172
|
|
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly)
|
rs1696618804
|
|
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
|
|
|
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp)
|
rs922757507
|
|
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)
|
rs1057518325
|
|
NM_001165963.4(SCN1A):c.2946+5G>A
|
rs1057520486
|
|
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe)
|
rs1553540503
|
|
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
|
|
|
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
|
|
|
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe)
|
rs897883046
|
|
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)
|
rs727504138
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys)
|
rs1559195296
|
|
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu)
|
rs2105918428
|
|
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
|
|
|
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
|
rs121918745
|
|
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
|
|
|
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT
|
rs2105611998
|
|
NM_001165963.4(SCN1A):c.3551-2A>T
|
rs2105612020
|
|
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
|
|
|
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)
|
rs1692873873
|
|
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
|
|
|
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
|
|
|
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly)
|
rs1692866593
|
|
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val)
|
rs2105609833
|
|
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe)
|
rs2105609699
|
|
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
|
|
|
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
|
|
|
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
|
|
|
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
|
|
|
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)
|
rs148442069
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.383+5C>G
|
rs1060502185
|
|
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
|
|
|
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)
|
rs1692543303
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val)
|
rs121918801
|
|
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
|
|
|
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
|
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
|
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)
|
rs1574006857
|
|
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
|
|
|
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
|
|
|
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe)
|
rs1691082638
|
|
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro)
|
rs1553525313
|
|
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
|
|
|
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
|
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro)
|
rs2105509598
|
|
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
|
|
|
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
|
|
|
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
|
|
|
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)
|
rs1553552378
|
|
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe)
|
rs1699149959
|
|
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys)
|
rs1559249734
|
|
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
|
|
|
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
|
|
|
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
|
|
|
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val)
|
rs373547836
|
|
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
|
|
|
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
|
|
|
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val)
|
rs2105487145
|
|
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
|
|
|
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
|
|
|
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
|
rs1690331819
|
|
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
|
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)
|
rs2105462778
|
|
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
|
|
|
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
|
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg)
|
rs372425457
|
|
NM_001165963.4(SCN1A):c.4563_4581+39del
|
rs1559114202
|
|
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)
|
rs2105449347
|
|
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
|
|
|
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
|
|
|
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys)
|
rs796053024
|
|
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly)
|
rs1573964264
|
|
NM_001165963.4(SCN1A):c.471_473+6del
|
|
|
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
|
|
|
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)
|
rs1689684958
|
|
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro)
|
rs2105447944
|
|
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
|
|
|
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)
|
rs1698961617
|
|
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu)
|
rs1689381070
|
|
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu)
|
rs2105435603
|
|
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
|
|
|
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
|
|
|
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
|
|
|
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
|
|
|
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
|
|
|
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg)
|
rs1689350809
|
|
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
|
|
|
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala)
|
rs1553520439
|
|
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
|
|
|
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
|
|
|
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)
|
rs796053031
|
|
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
|
|
|
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val)
|
rs375651364
|
|
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
|
|
|
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)
|
rs2105433264
|
|
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
|
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp)
|
rs2105432780
|
|
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr)
|
rs1689298888
|
|
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
|
rs1689298277
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)
|
rs1689294239
|
|
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
|
|
|
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys)
|
rs2105432013
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp)
|
rs1553520318
|
|
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr)
|
rs1689278461
|
|
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg)
|
rs1238612161
|
|
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr)
|
rs528239871
|
|
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
|
|
|
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu)
|
rs1573948129
|
|
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro)
|
rs2105429381
|
|
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
|
|
|
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del)
|
rs2105428012
|
|
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
|
|
|
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu)
|
rs1689211960
|
|
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
|
|
|
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)
|
rs1559245847
|
|
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)
|
rs760906812
|
|
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)
|
rs796053042
|
|
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly)
|
rs1553520029
|
|
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)
|
rs1060502186
|
|
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)
|
rs121917953
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)
|
rs1689142827
|
|
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys)
|
rs1553519865
|
|
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
|
rs1689136140
|
|
NM_001165963.4(SCN1A):c.602+1del
|
rs2105901693
|
|
NM_001165963.4(SCN1A):c.602+2dup
|
rs796053054
|
|
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val)
|
rs1553551312
|
|
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
|
|
|
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
|
|
|
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu)
|
rs1574271827
|
|
NM_001165963.4(SCN1A):c.695-2A>G
|
rs2105890879
|
|
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
|
|
|
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
|
|
|
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu)
|
rs2105890375
|
|
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg)
|
rs1553549834
|
|
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
|
|
|
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro)
|
rs1698602170
|
|
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro)
|
rs1559238432
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg)
|
rs2105888708
|
|
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His)
|
rs1553549461
|
|
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr)
|
rs2105874284
|
|
NM_001184880.1(PCDH19):c.79_2616+17371del
|
|
|
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
|
|
|
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
|
rs796052812
|
|
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr)
|
rs1569314809
|
|
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr)
|
rs1928365978
|
|
NM_001184880.2(PCDH19):c.2616+1G>A
|
rs1602632270
|
|
NM_001184880.2(PCDH19):c.2675+2T>C
|
|
|
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)
|
rs1555985780
|
|
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly)
|
rs2147542320
|
|
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala)
|
rs2147542056
|
|
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu)
|
rs1555985687
|
|
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg)
|
rs796052799
|
|
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
|
|
|
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly)
|
rs2147541358
|
|
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
|
rs1928438552
|
|
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
|
rs1602637340
|
|
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp)
|
rs2147540748
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)
|
rs1459520904
|
|
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser)
|
rs2147540049
|
|
NM_001191061.2(SLC25A22):c.202+1G>A
|
rs1287249801
|
|
NM_001191061.2(SLC25A22):c.568_587+6del
|
rs2133700632
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
NM_001271.4(CHD2):c.1052+1G>T
|
|
|
NM_001271.4(CHD2):c.1053-2A>C
|
|
|
NM_001271.4(CHD2):c.1198+2T>C
|
|
|
NM_001271.4(CHD2):c.1503-2A>G
|
|
|
NM_001271.4(CHD2):c.1720-155_1727delinsT
|
rs1596406306
|
|
NM_001271.4(CHD2):c.1809+1G>A
|
rs1057520592
|
|
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)
|
rs2141816539
|
|
NM_001271.4(CHD2):c.2190-1G>C
|
rs2053845402
|
|
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
|
rs1596419511
|
|
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
|
|
|
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
|
rs1596427937
|
|
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2876+1G>T
|
|
|
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)
|
rs2141850669
|
|
NM_001271.4(CHD2):c.3237+1G>A
|
|
|
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
|
|
|
NM_001271.4(CHD2):c.3414-2A>G
|
|
|
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
|
|
|
NM_001271.4(CHD2):c.381+1G>A
|
rs2053081680
|
|
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)
|
rs2141867671
|
|
NM_001271.4(CHD2):c.3886-1G>C
|
|
|
NM_001271.4(CHD2):c.390C>T (p.Ser130=)
|
rs1555437851
|
|
NM_001271.4(CHD2):c.4009-2A>G
|
|
|
NM_001271.4(CHD2):c.4137+2T>C
|
|
|
NM_001271.4(CHD2):c.4278+1G>A
|
rs2141873750
|
|
NM_001271.4(CHD2):c.4414-2A>G
|
rs2141881521
|
|
NM_001271.4(CHD2):c.443+1G>A
|
rs2141755359
|
|
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
|
|
|
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
|
rs1596456893
|
|
NM_001271.4(CHD2):c.4906+1G>T
|
rs2141888378
|
|
NM_001271.4(CHD2):c.692+1G>C
|
rs1555439036
|
|
NM_001271.4(CHD2):c.693-3C>A
|
rs2141785016
|
|
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln)
|
rs2147132235
|
|
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
|
rs1924899673
|
|
NM_001323289.2(CDKL5):c.146-2A>C
|
rs2147139522
|
|
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)
|
rs886043453
|
|
NM_001323289.2(CDKL5):c.2276+1G>A
|
rs1602292181
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp)
|
rs2147139669
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp)
|
rs1925423909
|
|
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
|
|
|
NM_001323289.2(CDKL5):c.404-2_412del
|
rs2147143992
|
|
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)
|
rs1310022305
|
|
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
|
rs1925492808
|
|
NM_001323289.2(CDKL5):c.464-1G>C
|
rs786204986
|
|
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
|
|
|
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)
|
rs1064794734
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.554+2T>C
|
|
|
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
|
|
|
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
|
|
|
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)
|
rs786204962
|
|
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
|
|
|
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)
|
rs1925697823
|
|
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
|
|
|
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg)
|
rs2147148092
|
|
NM_001323289.2(CDKL5):c.64+2T>G
|
|
|
NM_001323289.2(CDKL5):c.825+1G>C
|
|
|
NM_001323289.2(CDKL5):c.826-1G>A
|
rs587783149
|
|
NM_001323289.2(CDKL5):c.826-2A>G
|
rs1060501859
|
|
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)
|
rs1926078505
|
|
NM_001323289.2(CDKL5):c.99+1G>C
|
rs267608421
|
|
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val)
|
rs2138742488
|
|
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr)
|
rs1941714399
|
|
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
|
|
|
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu)
|
rs1941714576
|
|
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His)
|
rs2138748186
|
|
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
|
|
|
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)
|
rs2138748239
|
|
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro)
|
rs878854973
|
|
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg)
|
rs878854974
|
|
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp)
|
rs886043686
|
|
NM_001330260.2(SCN8A):c.276+1G>A
|
|
|
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe)
|
rs774522197
|
|
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly)
|
rs1592149906
|
|
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val)
|
rs2138868851
|
|
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp)
|
rs1430513260
|
|
NM_001330260.2(SCN8A):c.3942+1G>T
|
rs2138892902
|
|
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser)
|
rs796053214
|
|
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu)
|
rs1555228668
|
|
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr)
|
rs2138909658
|
|
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)
|
rs1938178701
|
|
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)
|
rs1555228771
|
|
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)
|
rs1555230905
|
|
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala)
|
rs1555230909
|
|
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn)
|
rs1938702028
|
|
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
|
|
|
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val)
|
rs1938703803
|
|
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
|
|
|
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
|
|
|
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)
|
rs879255709
|
|
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
|
|
|
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val)
|
rs1938712937
|
|
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu)
|
rs1938721157
|
|
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)
|
rs2138944020
|
|
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val)
|
rs2138944124
|
|
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
|
|
|
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)
|
rs796053233
|
|
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile)
|
rs1941650264
|
|
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr)
|
rs1941650760
|
|
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)
|
rs878853250
|
|
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys)
|
rs2138735794
|
|
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
|
|
|
NM_001330260.2(SCN8A):c.929-2A>G
|
|
|
NM_001367561.1(DOCK7):c.1519+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2200-2A>G
|
|
|
NM_001367561.1(DOCK7):c.2431+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2432-2A>C
|
rs760580647
|
|
NM_001367561.1(DOCK7):c.2596+1G>C
|
|
|
NM_001367561.1(DOCK7):c.2767-1G>A
|
rs1645656856
|
|
NM_001367561.1(DOCK7):c.2949+2T>C
|
|
|
NM_001367561.1(DOCK7):c.3187-31_3274del
|
rs2149393215
|
|
NM_001367561.1(DOCK7):c.5493+1G>T
|
|
|
NM_001367561.1(DOCK7):c.5724+1G>A
|
rs2149260122
|
|
NM_001367561.1(DOCK7):c.5725-2A>G
|
|
|
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg)
|
rs1555883384
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly)
|
rs2145946848
|
|
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly)
|
rs1555883501
|
|
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)
|
rs2147714706
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
|
|
|
NM_002641.4(PIGA):c.193C>T (p.His65Tyr)
|
rs1602212285
|
|
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)
|
rs2131543392
|
|
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
|
rs1835085971
|
|
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)
|
rs1833622746
|
|
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
|
|
|
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)
|
rs1554767317
|
|
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu)
|
rs1554781553
|
|
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys)
|
rs2131283599
|
|
NM_004408.4(DNM1):c.236-2A>C
|
|
|
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)
|
rs1554772959
|
|
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)
|
rs1057524561
|
|
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile)
|
rs2101396443
|
|
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser)
|
rs1557731896
|
|
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly)
|
rs1570752696
|
|
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs)
|
rs1064796294
|
|
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
|
|
|
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)
|
rs2101398595
|
|
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
|
|
|
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)
|
rs1555889103
|
|
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val)
|
rs1984248540
|
|
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
|
|
|
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)
|
rs1555889084
|
|
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
|
|
|
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)
|
rs1601071099
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn)
|
rs2146812849
|
|
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys)
|
rs1984276555
|
|
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala)
|
rs2146814335
|
|
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)
|
rs1057518621
|
|
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val)
|
rs1984261678
|
|
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
|
|
|
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr)
|
rs1984259606
|
|
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)
|
rs1276378675
|
|
NM_006030.4(CACNA2D2):c.1340-2A>G
|
rs2106654236
|
|
NM_006030.4(CACNA2D2):c.1389+2T>C
|
rs1575601202
|
|
NM_006030.4(CACNA2D2):c.1390-1G>C
|
rs2106652662
|
|
NM_006030.4(CACNA2D2):c.1774-2A>G
|
rs2106640384
|
|
NM_006030.4(CACNA2D2):c.1845+1G>T
|
rs1704944478
|
|
NM_006030.4(CACNA2D2):c.2045+1G>A
|
rs2109421369
|
|
NM_006030.4(CACNA2D2):c.206_206+34del
|
rs2107204955
|
|
NM_006030.4(CACNA2D2):c.2234+1G>T
|
|
|
NM_006030.4(CACNA2D2):c.2402-2A>C
|
rs1378156947
|
|
NM_006030.4(CACNA2D2):c.2637+1G>C
|
|
|
NM_006030.4(CACNA2D2):c.466-1G>C
|
rs2106702374
|
|
NM_006030.4(CACNA2D2):c.784+1G>C
|
rs1705277912
|
|
NM_006030.4(CACNA2D2):c.784+2T>G
|
|
|
NM_006030.4(CACNA2D2):c.842+1G>A
|
rs1705258881
|
|
NM_006279.5(ST3GAL3):c.118+1G>A
|
rs2154091891
|
|
NM_006279.5(ST3GAL3):c.167-2A>G
|
|
|
NM_006279.5(ST3GAL3):c.167-2A>T
|
|
|
NM_006279.5(ST3GAL3):c.210-1G>C
|
|
|
NM_006279.5(ST3GAL3):c.558-19_562del
|
|
|
NM_006279.5(ST3GAL3):c.891+1G>T
|
rs2082857900
|
|
NM_006279.5(ST3GAL3):c.891+2T>G
|
|
|
NM_007254.4(PNKP):c.1126+1G>C
|
|
|
NM_007254.4(PNKP):c.1296_1298+13del
|
|
|
NM_007254.4(PNKP):c.1298+1G>A
|
rs149614720
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1386+1G>C
|
rs1057520630
|
|
NM_007254.4(PNKP):c.152-2A>C
|
|
|
NM_007254.4(PNKP):c.199-2A>G
|
rs1391913873
|
|
NM_007254.4(PNKP):c.636+1G>C
|
rs1247055716
|
|
NM_007254.4(PNKP):c.744+1G>C
|
|
|
NM_007254.4(PNKP):c.865+1G>T
|
|
|
NM_014191.4(SCN8A):c.615-1G>A
|
rs1555217342
|
|
NM_014191.4(SCN8A):c.615-2A>C
|
rs1060504137
|
|
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)
|
rs1057518487
|
|
NM_014334.4(FRRS1L):c.239-2A>G
|
rs1831307625
|
|
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)
|
|
|
NM_014334.4(FRRS1L):c.463-2A>G
|
rs1564229228
|
|
NM_015192.4(PLCB1):c.1168-1G>A
|
rs2123451785
|
|
NM_015192.4(PLCB1):c.1514-1G>A
|
|
|
NM_015192.4(PLCB1):c.1763+2T>C
|
|
|
NM_015192.4(PLCB1):c.178-2A>G
|
|
|
NM_015192.4(PLCB1):c.1888+1G>A
|
|
|
NM_015192.4(PLCB1):c.2208+1G>A
|
rs1235234848
|
|
NM_015192.4(PLCB1):c.2656+1G>T
|
|
|
NM_015192.4(PLCB1):c.464+1G>A
|
|
|
NM_015192.4(PLCB1):c.465-2A>C
|
rs2123290747
|
|
NM_015192.4(PLCB1):c.862+1G>A
|
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.605+1_605+2delinsAA
|
rs2151934194
|
|
NM_016373.4(WWOX):c.605+2T>C
|
|
|
NM_016373.4(WWOX):c.605_605+3del
|
rs767732033
|
|
NM_016373.4(WWOX):c.791+1G>T
|
rs1164465811
|
|
NM_020708.5(SLC12A5):c.1337-2A>G
|
|
|
NM_020708.5(SLC12A5):c.147+1G>A
|
|
|
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)
|
rs863225305
|
|
NM_020708.5(SLC12A5):c.2012+1G>T
|
rs2145497450
|
|
NM_020708.5(SLC12A5):c.3110+1G>A
|
|
|
NM_020708.5(SLC12A5):c.53-2A>C
|
|
|
NM_020708.5(SLC12A5):c.53-2A>G
|
rs2084483775
|
|
NM_020708.5(SLC12A5):c.854+1G>A
|
|
|
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
|
rs767434859
|
|
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)
|
rs1057518066
|
|
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
|
|
|
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)
|
rs397515403
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
|
rs1831666357
|
|
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
|
|
|
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)
|
rs587777264
|
|
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del)
|
rs2143705016
|
|
NM_020988.3(GNAO1):c.119-2_119-1del
|
|
|
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu)
|
rs886041766
|
|
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)
|
rs869312939
|
|
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)
|
rs2143272260
|
|
NM_020988.3(GNAO1):c.464+2T>C
|
rs2143647375
|
|
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln)
|
rs2037724743
|
|
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
|
|
|
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)
|
rs2036182701
|
|
NM_020988.3(GNAO1):c.593+1G>A
|
|
|
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn)
|
rs758779535
|
|
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
|
|
|
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)
|
|
|
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro)
|
rs2112040690
|
|
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)
|
|
|
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)
|
|
|
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
|
|
|
NM_031844.3(HNRNPU):c.1117+1G>C
|
rs1558188078
|
|
NM_031844.3(HNRNPU):c.143_691+113del
|
|
|
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del)
|
rs1680716624
|
|
NM_031844.3(HNRNPU):c.1743+1G>A
|
rs2102985855
|
|
NM_031844.3(HNRNPU):c.2168-1del
|
rs2102985115
|
|
NM_031844.3(HNRNPU):c.669_691+32del
|
|
|
NM_031844.3(HNRNPU):c.803+2T>C
|
rs112081356
|
|
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
|
|
|
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
|
|
|
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)
|
rs2147318633
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
|
|
|
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys)
|
rs1164997707
|
|
NM_152743.4(BRAT1):c.1016-1G>C
|
|
|
NM_152743.4(BRAT1):c.1135-1G>T
|
|
|
NM_152743.4(BRAT1):c.1322-2A>G
|
rs2128390167
|
|
NM_152743.4(BRAT1):c.1371_1395+16del
|
rs1224820591
|
|
NM_152743.4(BRAT1):c.1395+2T>A
|
rs1779105755
|
|
NM_152743.4(BRAT1):c.1499-1G>T
|
rs1778987915
|
|
NM_152743.4(BRAT1):c.1598-1G>A
|
|
|
NM_152743.4(BRAT1):c.1710del (p.Gln571fs)
|
rs756489141
|
|
NM_152743.4(BRAT1):c.283-1G>A
|
|
|
NM_152743.4(BRAT1):c.283-2A>G
|
|
|
NM_152743.4(BRAT1):c.804-1G>T
|
|
|
NM_152743.4(BRAT1):c.924-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser)
|
rs1555869700
|
|
NM_172107.4(KCNQ2):c.1023+2T>C
|
|
|
NM_172107.4(KCNQ2):c.1024-2A>C
|
rs1057516104
|
|
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu)
|
rs2080907267
|
|
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
|
rs1057516105
|
|
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
|
|
|
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg)
|
rs2145680143
|
|
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)
|
rs200395340
|
|
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1218-1G>A
|
rs1568899375
|
|
NM_172107.4(KCNQ2):c.1247+1G>A
|
rs1057516115
|
|
NM_172107.4(KCNQ2):c.1301+2T>G
|
|
|
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>T
|
|
|
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val)
|
rs2145547478
|
|
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser)
|
rs2080210194
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
|
|
|
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
|
|
|
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro)
|
rs1057517919
|
|
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)
|
rs796052654
|
|
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
|
|
|
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
|
rs2145541173
|
|
NM_172107.4(KCNQ2):c.1764-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1887+2del
|
|
|
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs)
|
rs1060500603
|
|
NM_172107.4(KCNQ2):c.296+2T>C
|
|
|
NM_172107.4(KCNQ2):c.297-1G>C
|
rs2081442293
|
|
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del)
|
rs1064795435
|
|
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His)
|
rs2081442073
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.387+1G>A
|
|
|
NM_172107.4(KCNQ2):c.387+2T>C
|
rs2145789008
|
|
NM_172107.4(KCNQ2):c.388-1G>A
|
rs6089914
|
|
NM_172107.4(KCNQ2):c.388-2A>G
|
rs2145779858
|
|
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala)
|
rs2145779552
|
|
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
|
|
|
NM_172107.4(KCNQ2):c.514+1G>A
|
rs2145778708
|
|
NM_172107.4(KCNQ2):c.514+2T>C
|
|
|
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly)
|
rs1555873823
|
|
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
|
|
|
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=)
|
rs1447421194
|
|
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met)
|
rs1085307920
|
|
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
|
|
|
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp)
|
rs2145775614
|
|
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val)
|
rs1057524599
|
|
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
|
|
|
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)
|
rs397514581
|
|
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val)
|
rs2145774563
|
|
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
|
|
|
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
|
|
|
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met)
|
rs2081358317
|
|
NM_172107.4(KCNQ2):c.690+1G>A
|
rs2145774426
|
|
NM_172107.4(KCNQ2):c.690+2_690+19del
|
|
|
NM_172107.4(KCNQ2):c.691-1G>A
|
rs2145736858
|
|
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr)
|
rs2081192615
|
|
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
|
|
|
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
|
|
|
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
|
|
|
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys)
|
rs2081187047
|
|
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.816+2T>G
|
|
|
NM_172107.4(KCNQ2):c.817-1G>A
|
rs2145719805
|
|
NM_172107.4(KCNQ2):c.817-2A>G
|
|
|
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
|
|
|
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
|
rs1600755607
|
|
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe)
|
rs780872303
|
|
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met)
|
rs1272165811
|
|
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)
|
rs1600755429
|
|
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
|
|
|
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)
|
rs1060500602
|
|
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser)
|
rs2081099858
|
|
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
|
|
|
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)
|
rs775918190
|
|
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)
|
rs1568925719
|
|
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)
|
rs796052639
|
|
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile)
|
rs2145712541
|
|
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr)
|
rs2145712459
|
|
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)
|
rs1555869758
|
|
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
|
|
|
NM_177550.5(SLC13A5):c.1156+1G>A
|
rs1555541483
|
|
NM_177550.5(SLC13A5):c.1156+1_1156+5del
|
|
|
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn)
|
rs2150964787
|
|
NM_177550.5(SLC13A5):c.1438-2A>G
|
|
|
NM_177550.5(SLC13A5):c.232-2A>G
|
rs1973878360
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_177550.5(SLC13A5):c.548-1G>A
|
|
|
NM_177550.5(SLC13A5):c.839+1G>A
|
rs1973697345
|
|
NM_177550.5(SLC13A5):c.840-2A>G
|
|
|
NM_203446.3(SYNJ1):c.2461+2T>C
|
|
|
NM_203446.3(SYNJ1):c.3247+2T>G
|
|
|
NM_203446.3(SYNJ1):c.3430+1G>A
|
rs2145769010
|
|
NM_203446.3(SYNJ1):c.3478+1G>A
|
rs1085307987
|
|
NM_203446.3(SYNJ1):c.3589-1G>A
|
|
|
NM_203446.3(SYNJ1):c.789+1G>A
|
rs2042124608
|
|