NM_006030.4(CACNA2D2):c.3402A>C (p.Gln1134His)
|
rs150284749
|
0.00127
|
NM_006030.4(CACNA2D2):c.2995C>T (p.Pro999Ser)
|
rs146587089
|
0.00109
|
NM_006030.4(CACNA2D2):c.3370C>T (p.Leu1124Phe)
|
rs147278705
|
0.00091
|
NM_173728.4(ARHGEF15):c.80G>A (p.Arg27His)
|
rs199663714
|
0.00045
|
NM_173728.4(ARHGEF15):c.2228G>A (p.Gly743Asp)
|
rs201311723
|
0.00040
|
NM_001191061.2(SLC25A22):c.64G>A (p.Gly22Ser)
|
rs757575372
|
0.00028
|
NM_173728.4(ARHGEF15):c.1045G>C (p.Asp349His)
|
rs146014287
|
0.00028
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_006030.4(CACNA2D2):c.2801A>G (p.Gln934Arg)
|
rs191208192
|
0.00026
|
NM_006030.4(CACNA2D2):c.445C>T (p.Arg149Cys)
|
rs201935269
|
0.00026
|
NM_001191061.2(SLC25A22):c.267C>G (p.Phe89Leu)
|
rs143064022
|
0.00024
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
NM_006030.4(CACNA2D2):c.17G>C (p.Arg6Pro)
|
rs1317078806
|
0.00021
|
NM_173728.4(ARHGEF15):c.1951G>A (p.Val651Met)
|
rs367882089
|
0.00018
|
NM_001191061.2(SLC25A22):c.464G>C (p.Gly155Ala)
|
rs200992080
|
0.00016
|
NM_001330260.2(SCN8A):c.5795G>C (p.Arg1932Pro)
|
rs371766742
|
0.00016
|
NM_173728.4(ARHGEF15):c.266C>A (p.Thr89Asn)
|
rs375343071
|
0.00015
|
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn)
|
rs149715258
|
0.00014
|
NM_001191061.2(SLC25A22):c.653C>T (p.Ala218Val)
|
rs150645806
|
0.00014
|
NM_006030.4(CACNA2D2):c.3035A>G (p.Gln1012Arg)
|
rs148079551
|
0.00014
|
NM_006030.4(CACNA2D2):c.1781G>A (p.Arg594Gln)
|
rs146908394
|
0.00013
|
NM_006030.4(CACNA2D2):c.622G>A (p.Val208Ile)
|
rs374669124
|
0.00013
|
NM_006279.5(ST3GAL3):c.397+6T>G
|
rs370838456
|
0.00013
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser)
|
rs751334184
|
0.00013
|
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu)
|
rs139113273
|
0.00012
|
NM_001191061.2(SLC25A22):c.647G>A (p.Arg216His)
|
rs201932343
|
0.00012
|
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)
|
rs1427892796
|
0.00011
|
NM_001191061.2(SLC25A22):c.506C>T (p.Thr169Met)
|
rs533726078
|
0.00011
|
NM_006279.5(ST3GAL3):c.431A>G (p.Lys144Arg)
|
rs773798445
|
0.00011
|
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)
|
rs774002673
|
0.00011
|
NM_173728.4(ARHGEF15):c.571G>A (p.Gly191Arg)
|
rs758287768
|
0.00011
|
NM_001032221.6(STXBP1):c.865A>G (p.Ile289Val)
|
rs1334061327
|
0.00010
|
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
|
rs745697305
|
0.00010
|
NM_001330260.2(SCN8A):c.1954A>G (p.Ile652Val)
|
rs1048609401
|
0.00010
|
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys)
|
rs1031913850
|
0.00010
|
NM_139318.5(KCNH5):c.685G>A (p.Ala229Thr)
|
rs200308580
|
0.00010
|
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)
|
rs368720575
|
0.00010
|
NM_173728.4(ARHGEF15):c.2042G>A (p.Arg681Gln)
|
rs115722025
|
0.00010
|
NM_173728.4(ARHGEF15):c.2152C>T (p.Arg718Cys)
|
rs199891313
|
0.00010
|
NM_173728.4(ARHGEF15):c.68G>A (p.Arg23His)
|
rs753172300
|
0.00010
|
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser)
|
rs2227863
|
0.00009
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)
|
rs752578570
|
0.00009
|
NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr)
|
rs374501252
|
0.00009
|
NM_006030.4(CACNA2D2):c.1607G>A (p.Arg536Lys)
|
rs139046100
|
0.00009
|
NM_006030.4(CACNA2D2):c.259A>G (p.Ile87Val)
|
rs1340091797
|
0.00009
|
NM_006279.5(ST3GAL3):c.303G>T (p.Arg101=)
|
rs200957732
|
0.00009
|
NM_173728.4(ARHGEF15):c.415G>A (p.Ala139Thr)
|
rs200188980
|
0.00009
|
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp)
|
rs374682395
|
0.00008
|
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
NM_001191061.2(SLC25A22):c.146+6T>C
|
rs369906148
|
0.00008
|
NM_001191061.2(SLC25A22):c.830G>A (p.Arg277Gln)
|
rs777614945
|
0.00008
|
NM_006030.4(CACNA2D2):c.2623G>A (p.Glu875Lys)
|
rs140562117
|
0.00008
|
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)
|
rs920545433
|
0.00007
|
NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys)
|
rs148371904
|
0.00007
|
NM_001191061.2(SLC25A22):c.124G>A (p.Gly42Ser)
|
rs535927522
|
0.00007
|
NM_001191061.2(SLC25A22):c.293+6G>A
|
rs375955950
|
0.00007
|
NM_006030.4(CACNA2D2):c.1783A>T (p.Ser595Cys)
|
rs147739443
|
0.00007
|
NM_006030.4(CACNA2D2):c.2600A>G (p.Asn867Ser)
|
rs80091654
|
0.00007
|
NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys)
|
rs372807250
|
0.00007
|
NM_139318.5(KCNH5):c.2884C>T (p.Pro962Ser)
|
rs202223175
|
0.00007
|
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr)
|
rs769558746
|
0.00007
|
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr)
|
rs543477138
|
0.00007
|
NM_173728.4(ARHGEF15):c.512C>T (p.Pro171Leu)
|
rs147736312
|
0.00007
|
NM_173728.4(ARHGEF15):c.781G>A (p.Val261Ile)
|
rs773458439
|
0.00007
|
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr)
|
rs766491965
|
0.00006
|
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)
|
rs149367932
|
0.00006
|
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp)
|
rs148402616
|
0.00006
|
NM_001130438.3(SPTAN1):c.6709T>A (p.Ser2237Thr)
|
rs770532796
|
0.00006
|
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
|
rs145054594
|
0.00006
|
NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr)
|
rs143088184
|
0.00006
|
NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser)
|
rs149569043
|
0.00006
|
NM_001191061.2(SLC25A22):c.551C>G (p.Ala184Gly)
|
rs755147242
|
0.00006
|
NM_006030.4(CACNA2D2):c.118C>T (p.Pro40Ser)
|
rs966374833
|
0.00006
|
NM_006030.4(CACNA2D2):c.1672G>A (p.Val558Met)
|
rs763772019
|
0.00006
|
NM_006030.4(CACNA2D2):c.2081A>C (p.Asn694Thr)
|
rs139997397
|
0.00006
|
NM_006030.4(CACNA2D2):c.227G>A (p.Arg76His)
|
rs369847313
|
0.00006
|
NM_006030.4(CACNA2D2):c.2350C>T (p.Arg784Cys)
|
rs746371451
|
0.00006
|
NM_006030.4(CACNA2D2):c.2694C>A (p.Asn898Lys)
|
rs146694990
|
0.00006
|
NM_006030.4(CACNA2D2):c.3267C>A (p.His1089Gln)
|
rs781660163
|
0.00006
|
NM_006030.4(CACNA2D2):c.842+6C>T
|
rs775272200
|
0.00006
|
NM_006279.5(ST3GAL3):c.145G>A (p.Ala49Thr)
|
rs756909492
|
0.00006
|
NM_006279.5(ST3GAL3):c.782G>A (p.Arg261Gln)
|
rs144263012
|
0.00006
|
NM_006279.5(ST3GAL3):c.841G>A (p.Ala281Thr)
|
rs371540962
|
0.00006
|
NM_139318.5(KCNH5):c.2489A>G (p.Asn830Ser)
|
rs151103620
|
0.00006
|
NM_139318.5(KCNH5):c.2534A>G (p.Lys845Arg)
|
rs1189342324
|
0.00006
|
NM_139318.5(KCNH5):c.440C>T (p.Thr147Met)
|
rs180894715
|
0.00006
|
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser)
|
rs756609768
|
0.00006
|
NM_173728.4(ARHGEF15):c.1837C>T (p.Arg613Trp)
|
rs141885648
|
0.00006
|
NM_173728.4(ARHGEF15):c.1856G>A (p.Arg619His)
|
rs145017019
|
0.00006
|
NM_173728.4(ARHGEF15):c.316C>T (p.Arg106Cys)
|
rs144080590
|
0.00006
|
NM_173728.4(ARHGEF15):c.340C>T (p.Pro114Ser)
|
rs777250745
|
0.00006
|
NM_173728.4(ARHGEF15):c.388C>G (p.Pro130Ala)
|
rs368543027
|
0.00006
|
NM_173728.4(ARHGEF15):c.452G>A (p.Arg151Gln)
|
rs374195875
|
0.00006
|
NM_173728.4(ARHGEF15):c.62G>A (p.Arg21His)
|
rs1486076923
|
0.00006
|
NM_173728.4(ARHGEF15):c.733C>T (p.Arg245Trp)
|
rs371870992
|
0.00006
|
NM_173728.4(ARHGEF15):c.743G>A (p.Arg248His)
|
rs376834708
|
0.00006
|
NM_173728.4(ARHGEF15):c.765C>T (p.Ser255=)
|
rs368975957
|
0.00006
|
NM_001130438.3(SPTAN1):c.1645G>A (p.Asp549Asn)
|
rs868661967
|
0.00005
|
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser)
|
rs200241514
|
0.00005
|
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)
|
rs755962326
|
0.00005
|
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala)
|
rs374767754
|
0.00005
|
NM_001191061.2(SLC25A22):c.415G>A (p.Ala139Thr)
|
rs544386351
|
0.00005
|
NM_001191061.2(SLC25A22):c.493G>A (p.Ala165Thr)
|
rs763227728
|
0.00005
|
NM_001330260.2(SCN8A):c.1779G>C (p.Glu593Asp)
|
rs760717246
|
0.00005
|
NM_006030.4(CACNA2D2):c.1152C>T (p.Asn384=)
|
rs764348467
|
0.00005
|
NM_006030.4(CACNA2D2):c.2216G>A (p.Arg739Lys)
|
rs775331156
|
0.00005
|
NM_006030.4(CACNA2D2):c.2969C>T (p.Ala990Val)
|
rs772555143
|
0.00005
|
NM_006030.4(CACNA2D2):c.3061T>G (p.Ser1021Ala)
|
rs145135167
|
0.00005
|
NM_006030.4(CACNA2D2):c.3194A>T (p.Gln1065Leu)
|
rs587691864
|
0.00005
|
NM_006030.4(CACNA2D2):c.564G>C (p.Arg188Ser)
|
rs148615584
|
0.00005
|
NM_006279.5(ST3GAL3):c.502G>A (p.Val168Ile)
|
rs758155830
|
0.00005
|
NM_020988.3(GNAO1):c.433C>T (p.Arg145Trp)
|
rs757388426
|
0.00005
|
NM_173728.4(ARHGEF15):c.1714C>T (p.Arg572Cys)
|
rs745415178
|
0.00005
|
NM_173728.4(ARHGEF15):c.317G>T (p.Arg106Leu)
|
rs146482304
|
0.00005
|
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg)
|
rs11792065
|
0.00004
|
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)
|
rs778489951
|
0.00004
|
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser)
|
rs552623597
|
0.00004
|
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys)
|
rs373033857
|
0.00004
|
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)
|
rs752347538
|
0.00004
|
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)
|
rs775190610
|
0.00004
|
NM_001130438.3(SPTAN1):c.7309-3C>A
|
rs777355476
|
0.00004
|
NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=)
|
rs140035595
|
0.00004
|
NM_001191061.2(SLC25A22):c.143G>A (p.Ser48Asn)
|
rs757713622
|
0.00004
|
NM_001191061.2(SLC25A22):c.536G>A (p.Arg179Gln)
|
rs756506540
|
0.00004
|
NM_001191061.2(SLC25A22):c.541C>T (p.Arg181Cys)
|
rs374216522
|
0.00004
|
NM_001191061.2(SLC25A22):c.553G>A (p.Gly185Ser)
|
rs761249044
|
0.00004
|
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu)
|
rs767949941
|
0.00004
|
NM_001191061.2(SLC25A22):c.650C>T (p.Pro217Leu)
|
rs139555989
|
0.00004
|
NM_001330260.2(SCN8A):c.2281A>G (p.Ile761Val)
|
rs544063018
|
0.00004
|
NM_001330260.2(SCN8A):c.3061G>C (p.Ala1021Pro)
|
rs781237471
|
0.00004
|
NM_001330260.2(SCN8A):c.3373-8G>A
|
rs1275858718
|
0.00004
|
NM_001330260.2(SCN8A):c.3530A>G (p.Glu1177Gly)
|
rs560509683
|
0.00004
|
NM_001330260.2(SCN8A):c.5735G>A (p.Arg1912Lys)
|
rs764108136
|
0.00004
|
NM_006030.4(CACNA2D2):c.1189A>G (p.Met397Val)
|
rs142559701
|
0.00004
|
NM_006030.4(CACNA2D2):c.1713C>G (p.Phe571Leu)
|
rs777991152
|
0.00004
|
NM_006030.4(CACNA2D2):c.2257G>A (p.Ala753Thr)
|
rs148442391
|
0.00004
|
NM_006030.4(CACNA2D2):c.2482C>T (p.Arg828Cys)
|
rs774552132
|
0.00004
|
NM_006030.4(CACNA2D2):c.304C>T (p.Arg102Trp)
|
rs568540115
|
0.00004
|
NM_006030.4(CACNA2D2):c.3116G>A (p.Arg1039Lys)
|
rs1013511770
|
0.00004
|
NM_006030.4(CACNA2D2):c.3242G>C (p.Arg1081Thr)
|
rs775526117
|
0.00004
|
NM_006030.4(CACNA2D2):c.3424C>T (p.Arg1142Cys)
|
rs376300457
|
0.00004
|
NM_006030.4(CACNA2D2):c.413C>T (p.Ala138Val)
|
rs35497591
|
0.00004
|
NM_006030.4(CACNA2D2):c.478G>A (p.Val160Met)
|
rs779423998
|
0.00004
|
NM_006030.4(CACNA2D2):c.545C>T (p.Ser182Phe)
|
rs142099149
|
0.00004
|
NM_006030.4(CACNA2D2):c.553A>G (p.Ser185Gly)
|
rs368540577
|
0.00004
|
NM_006030.4(CACNA2D2):c.577G>A (p.Glu193Lys)
|
rs587610576
|
0.00004
|
NM_006030.4(CACNA2D2):c.616G>A (p.Ala206Thr)
|
rs199903642
|
0.00004
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00004
|
NM_021072.4(HCN1):c.2099C>A (p.Thr700Asn)
|
rs1352995652
|
0.00004
|
NM_021072.4(HCN1):c.280A>G (p.Met94Val)
|
rs773441535
|
0.00004
|
NM_139318.5(KCNH5):c.1003G>A (p.Ala335Thr)
|
rs376158544
|
0.00004
|
NM_139318.5(KCNH5):c.1346C>T (p.Ser449Leu)
|
rs369774413
|
0.00004
|
NM_139318.5(KCNH5):c.1666G>A (p.Asp556Asn)
|
rs150842380
|
0.00004
|
NM_139318.5(KCNH5):c.1694A>G (p.Glu565Gly)
|
rs781050144
|
0.00004
|
NM_139318.5(KCNH5):c.2828C>T (p.Ser943Leu)
|
rs761523326
|
0.00004
|
NM_139318.5(KCNH5):c.880G>A (p.Val294Met)
|
rs376026108
|
0.00004
|
NM_139318.5(KCNH5):c.930A>T (p.Glu310Asp)
|
rs201960719
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu)
|
rs139164500
|
0.00004
|
NM_172107.4(KCNQ2):c.1301+5C>T
|
rs200872349
|
0.00004
|
NM_172107.4(KCNQ2):c.1888-3C>T
|
rs772971971
|
0.00004
|
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser)
|
rs780110473
|
0.00004
|
NM_172107.4(KCNQ2):c.1940G>A (p.Arg647Gln)
|
rs765583552
|
0.00004
|
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu)
|
rs553337046
|
0.00004
|
NM_172107.4(KCNQ2):c.2056A>G (p.Ile686Val)
|
rs558926802
|
0.00004
|
NM_172107.4(KCNQ2):c.2122C>G (p.Pro708Ala)
|
rs767485841
|
0.00004
|
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys)
|
rs768284828
|
0.00004
|
NM_172107.4(KCNQ2):c.2281G>T (p.Ala761Ser)
|
rs587780366
|
0.00004
|
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu)
|
rs774206764
|
0.00004
|
NM_173728.4(ARHGEF15):c.1789C>T (p.Arg597Cys)
|
rs781295246
|
0.00004
|
NM_173728.4(ARHGEF15):c.2092G>A (p.Val698Ile)
|
rs762341051
|
0.00004
|
NM_173728.4(ARHGEF15):c.2122C>T (p.Arg708Cys)
|
rs774110070
|
0.00004
|
NM_173728.4(ARHGEF15):c.2374+3G>A
|
rs970612446
|
0.00004
|
NM_173728.4(ARHGEF15):c.52C>T (p.Arg18Trp)
|
rs200187886
|
0.00004
|
NM_173728.4(ARHGEF15):c.596C>T (p.Ala199Val)
|
rs757692544
|
0.00004
|
NM_173728.4(ARHGEF15):c.718C>T (p.Arg240Trp)
|
rs775334628
|
0.00004
|
NM_173728.4(ARHGEF15):c.887C>T (p.Pro296Leu)
|
rs1436984970
|
0.00004
|
NM_001032221.6(STXBP1):c.1598G>C (p.Ser533Thr)
|
rs750155933
|
0.00003
|
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn)
|
rs773663318
|
0.00003
|
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser)
|
rs768940761
|
0.00003
|
NM_001130438.3(SPTAN1):c.1936A>G (p.Lys646Glu)
|
rs903037131
|
0.00003
|
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)
|
rs372062686
|
0.00003
|
NM_001130438.3(SPTAN1):c.2393C>T (p.Thr798Met)
|
rs749263783
|
0.00003
|
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser)
|
rs1185428521
|
0.00003
|
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His)
|
rs369611161
|
0.00003
|
NM_001130438.3(SPTAN1):c.3448A>G (p.Ile1150Val)
|
rs145516440
|
0.00003
|
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)
|
rs776648566
|
0.00003
|
NM_001130438.3(SPTAN1):c.4028G>A (p.Arg1343His)
|
rs539724071
|
0.00003
|
NM_001130438.3(SPTAN1):c.4261G>T (p.Asp1421Tyr)
|
rs749333383
|
0.00003
|
NM_001130438.3(SPTAN1):c.4351C>G (p.His1451Asp)
|
rs772533230
|
0.00003
|
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser)
|
rs139943747
|
0.00003
|
NM_001130438.3(SPTAN1):c.5308C>T (p.Arg1770Cys)
|
rs371055930
|
0.00003
|
NM_001130438.3(SPTAN1):c.6497G>A (p.Arg2166His)
|
rs200834733
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+4C>T
|
rs902275859
|
0.00003
|
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)
|
rs1057520841
|
0.00003
|
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)
|
rs200531434
|
0.00003
|
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr)
|
rs398123581
|
0.00003
|
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys)
|
rs769582667
|
0.00003
|
NM_001165963.4(SCN1A):c.2143A>C (p.Ser715Arg)
|
rs1349978357
|
0.00003
|
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
0.00003
|
NM_001165963.4(SCN1A):c.2559A>C (p.Glu853Asp)
|
rs764292628
|
0.00003
|
NM_001165963.4(SCN1A):c.3386C>T (p.Thr1129Met)
|
rs779989776
|
0.00003
|
NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn)
|
rs200263247
|
0.00003
|
NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro)
|
rs566595038
|
0.00003
|
NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met)
|
rs756845310
|
0.00003
|
NM_001165963.4(SCN1A):c.778G>A (p.Val260Ile)
|
rs775591652
|
0.00003
|
NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr)
|
rs745664511
|
0.00003
|
NM_001191061.2(SLC25A22):c.133G>A (p.Val45Met)
|
rs570016062
|
0.00003
|
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)
|
rs774766308
|
0.00003
|
NM_001191061.2(SLC25A22):c.292G>A (p.Gly98Arg)
|
rs781514122
|
0.00003
|
NM_001191061.2(SLC25A22):c.452C>T (p.Ser151Leu)
|
rs750386693
|
0.00003
|
NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val)
|
rs781424186
|
0.00003
|
NM_001191061.2(SLC25A22):c.85A>T (p.Ile29Phe)
|
rs1386206620
|
0.00003
|
NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys)
|
rs762897089
|
0.00003
|
NM_001191061.2(SLC25A22):c.932C>T (p.Ala311Val)
|
rs760123308
|
0.00003
|
NM_001330260.2(SCN8A):c.2951A>G (p.Asn984Ser)
|
rs373040746
|
0.00003
|
NM_001330260.2(SCN8A):c.3060G>C (p.Gln1020His)
|
rs528718802
|
0.00003
|
NM_001330260.2(SCN8A):c.3503G>A (p.Arg1168Gln)
|
rs763817893
|
0.00003
|
NM_001330260.2(SCN8A):c.3769G>A (p.Val1257Ile)
|
rs750829844
|
0.00003
|
NM_001330260.2(SCN8A):c.4134G>T (p.Lys1378Asn)
|
rs752899010
|
0.00003
|
NM_001330260.2(SCN8A):c.4678G>A (p.Val1560Met)
|
rs764328953
|
0.00003
|
NM_001330260.2(SCN8A):c.5719C>T (p.Arg1907Trp)
|
rs760444517
|
0.00003
|
NM_006030.4(CACNA2D2):c.1052G>A (p.Arg351His)
|
rs747629573
|
0.00003
|
NM_006030.4(CACNA2D2):c.1773G>T (p.Glu591Asp)
|
rs1334009457
|
0.00003
|
NM_006030.4(CACNA2D2):c.1945C>T (p.Leu649Phe)
|
rs775442985
|
0.00003
|
NM_006030.4(CACNA2D2):c.2207G>A (p.Arg736His)
|
rs768385122
|
0.00003
|
NM_006030.4(CACNA2D2):c.2234C>T (p.Thr745Met)
|
rs745793280
|
0.00003
|
NM_006030.4(CACNA2D2):c.223C>T (p.Arg75Trp)
|
rs372777713
|
0.00003
|
NM_006030.4(CACNA2D2):c.2429A>G (p.Asn810Ser)
|
rs367921195
|
0.00003
|
NM_006030.4(CACNA2D2):c.3009G>C (p.Glu1003Asp)
|
rs756230551
|
0.00003
|
NM_006030.4(CACNA2D2):c.316G>A (p.Glu106Lys)
|
rs140875826
|
0.00003
|
NM_006030.4(CACNA2D2):c.3386C>T (p.Pro1129Leu)
|
rs1014755697
|
0.00003
|
NM_006030.4(CACNA2D2):c.364G>T (p.Asp122Tyr)
|
rs552824990
|
0.00003
|
NM_006030.4(CACNA2D2):c.458A>G (p.Asn153Ser)
|
rs1033519116
|
0.00003
|
NM_006030.4(CACNA2D2):c.757G>A (p.Ala253Thr)
|
rs199634498
|
0.00003
|
NM_006030.4(CACNA2D2):c.930G>A (p.Met310Ile)
|
rs1201925194
|
0.00003
|
NM_006279.5(ST3GAL3):c.1034A>G (p.Lys345Arg)
|
rs372719675
|
0.00003
|
NM_006279.5(ST3GAL3):c.1099G>A (p.Val367Ile)
|
rs369157620
|
0.00003
|
NM_006279.5(ST3GAL3):c.176G>A (p.Arg59Gln)
|
rs764808181
|
0.00003
|
NM_006279.5(ST3GAL3):c.344G>A (p.Arg115His)
|
rs767108992
|
0.00003
|
NM_006279.5(ST3GAL3):c.412G>A (p.Ala138Thr)
|
rs372694400
|
0.00003
|
NM_006279.5(ST3GAL3):c.473G>A (p.Arg158His)
|
rs775719562
|
0.00003
|
NM_006279.5(ST3GAL3):c.887G>A (p.Arg296Gln)
|
rs137939894
|
0.00003
|
NM_006279.5(ST3GAL3):c.973G>A (p.Asp325Asn)
|
rs373761336
|
0.00003
|
NM_014191.4(SCN8A):c.619A>G (p.Ile207Val)
|
rs767123396
|
0.00003
|
NM_020988.3(GNAO1):c.723G>A (p.Thr241=)
|
rs763053362
|
0.00003
|
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)
|
rs989268235
|
0.00003
|
NM_021072.4(HCN1):c.255G>T (p.Glu85Asp)
|
rs868228427
|
0.00003
|
NM_139318.5(KCNH5):c.1339A>G (p.Met447Val)
|
rs200506671
|
0.00003
|
NM_139318.5(KCNH5):c.2438G>A (p.Arg813Gln)
|
rs534607642
|
0.00003
|
NM_139318.5(KCNH5):c.2872C>T (p.Pro958Ser)
|
rs141160972
|
0.00003
|
NM_139318.5(KCNH5):c.817C>T (p.Pro273Ser)
|
rs747654948
|
0.00003
|
NM_172107.4(KCNQ2):c.1301+6G>A
|
rs377304987
|
0.00003
|
NM_172107.4(KCNQ2):c.1405G>A (p.Ala469Thr)
|
rs781778855
|
0.00003
|
NM_172107.4(KCNQ2):c.1483G>C (p.Ala495Pro)
|
rs200251507
|
0.00003
|
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His)
|
rs773194884
|
0.00003
|
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)
|
rs761544880
|
0.00003
|
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr)
|
rs773822234
|
0.00003
|
NM_173728.4(ARHGEF15):c.1786G>A (p.Glu596Lys)
|
rs746554509
|
0.00003
|
NM_173728.4(ARHGEF15):c.1940G>A (p.Arg647Gln)
|
rs777849960
|
0.00003
|
NM_173728.4(ARHGEF15):c.1972C>T (p.Arg658Cys)
|
rs771609829
|
0.00003
|
NM_173728.4(ARHGEF15):c.1973G>A (p.Arg658His)
|
rs774959863
|
0.00003
|
NM_173728.4(ARHGEF15):c.2297C>T (p.Ser766Leu)
|
rs200402507
|
0.00003
|
NM_173728.4(ARHGEF15):c.313C>T (p.Arg105Trp)
|
rs375648145
|
0.00003
|
NM_173728.4(ARHGEF15):c.314G>A (p.Arg105Gln)
|
rs777484923
|
0.00003
|
NM_173728.4(ARHGEF15):c.499G>T (p.Asp167Tyr)
|
rs368035234
|
0.00003
|
NM_001032221.6(STXBP1):c.310G>A (p.Val104Ile)
|
rs751437146
|
0.00002
|
NM_001032221.6(STXBP1):c.429+3G>A
|
rs368213197
|
0.00002
|
NM_001032221.6(STXBP1):c.913C>T (p.Arg305Trp)
|
rs775811887
|
0.00002
|
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His)
|
rs796053314
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)
|
rs760552878
|
0.00002
|
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr)
|
rs755356541
|
0.00002
|
NM_001130438.3(SPTAN1):c.1602T>G (p.Ile534Met)
|
rs560390110
|
0.00002
|
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser)
|
rs371178746
|
0.00002
|
NM_001130438.3(SPTAN1):c.1664G>A (p.Arg555His)
|
rs139998823
|
0.00002
|
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys)
|
rs781048881
|
0.00002
|
NM_001130438.3(SPTAN1):c.2108C>T (p.Ser703Leu)
|
rs866425525
|
0.00002
|
NM_001130438.3(SPTAN1):c.2193+6G>C
|
rs751573290
|
0.00002
|
NM_001130438.3(SPTAN1):c.2696C>G (p.Ala899Gly)
|
rs745746027
|
0.00002
|
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu)
|
rs780303413
|
0.00002
|
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His)
|
rs780184944
|
0.00002
|
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)
|
rs1176851202
|
0.00002
|
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr)
|
rs140159000
|
0.00002
|
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys)
|
rs774559979
|
0.00002
|
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)
|
rs762216368
|
0.00002
|
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn)
|
rs757714696
|
0.00002
|
NM_001130438.3(SPTAN1):c.4564A>G (p.Ile1522Val)
|
rs764323424
|
0.00002
|
NM_001130438.3(SPTAN1):c.4758+3A>C
|
rs774108521
|
0.00002
|
NM_001130438.3(SPTAN1):c.4822G>A (p.Ala1608Thr)
|
rs775707176
|
0.00002
|
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)
|
rs757109566
|
0.00002
|
NM_001130438.3(SPTAN1):c.504+4C>T
|
rs755742062
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001130438.3(SPTAN1):c.5269A>G (p.Met1757Val)
|
rs141483578
|
0.00002
|
NM_001130438.3(SPTAN1):c.5377G>A (p.Gly1793Ser)
|
rs780658978
|
0.00002
|
NM_001130438.3(SPTAN1):c.5392G>A (p.Gly1798Ser)
|
rs756006714
|
0.00002
|
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu)
|
rs561973288
|
0.00002
|
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
|
rs973076703
|
0.00002
|
NM_001130438.3(SPTAN1):c.6053C>T (p.Thr2018Met)
|
rs904934847
|
0.00002
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
0.00002
|
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val)
|
rs767399516
|
0.00002
|
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)
|
rs757162652
|
0.00002
|
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)
|
rs1336849921
|
0.00002
|
NM_001165963.4(SCN1A):c.115C>A (p.Pro39Thr)
|
rs968754992
|
0.00002
|
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr)
|
rs752639991
|
0.00002
|
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys)
|
rs778852888
|
0.00002
|
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser)
|
rs561912072
|
0.00002
|
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val)
|
rs772487501
|
0.00002
|
NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg)
|
rs985473996
|
0.00002
|
NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn)
|
rs751514645
|
0.00002
|
NM_001165963.4(SCN1A):c.384-9A>G
|
rs371926865
|
0.00002
|
NM_001165963.4(SCN1A):c.5651C>T (p.Ala1884Val)
|
rs1188972480
|
0.00002
|
NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile)
|
rs1205848223
|
0.00002
|
NM_001165963.4(SCN1A):c.5834A>G (p.Asn1945Ser)
|
rs767935681
|
0.00002
|
NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser)
|
rs376656165
|
0.00002
|
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr)
|
rs766656231
|
0.00002
|
NM_001191061.2(SLC25A22):c.130C>T (p.Arg44Cys)
|
rs576145791
|
0.00002
|
NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His)
|
rs769730725
|
0.00002
|
NM_001191061.2(SLC25A22):c.294-19G>A
|
rs1323982646
|
0.00002
|
NM_001191061.2(SLC25A22):c.494C>T (p.Ala165Val)
|
rs752791901
|
0.00002
|
NM_001191061.2(SLC25A22):c.507G>A (p.Thr169=)
|
rs540297776
|
0.00002
|
NM_001191061.2(SLC25A22):c.535C>T (p.Arg179Trp)
|
rs574361397
|
0.00002
|
NM_001191061.2(SLC25A22):c.550G>A (p.Ala184Thr)
|
rs370941893
|
0.00002
|
NM_001191061.2(SLC25A22):c.646C>T (p.Arg216Cys)
|
rs771544252
|
0.00002
|
NM_001191061.2(SLC25A22):c.731A>G (p.Asn244Ser)
|
rs778299128
|
0.00002
|
NM_001191061.2(SLC25A22):c.845C>T (p.Ser282Leu)
|
rs1168502556
|
0.00002
|
NM_001330260.2(SCN8A):c.1136C>T (p.Thr379Ile)
|
rs761124273
|
0.00002
|
NM_001330260.2(SCN8A):c.1349C>T (p.Ala450Val)
|
rs755154133
|
0.00002
|
NM_001330260.2(SCN8A):c.1519G>C (p.Glu507Gln)
|
rs777851383
|
0.00002
|
NM_001330260.2(SCN8A):c.1707G>C (p.Arg569Ser)
|
rs267603508
|
0.00002
|
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro)
|
rs753009673
|
0.00002
|
NM_001330260.2(SCN8A):c.2002A>G (p.Thr668Ala)
|
rs556325115
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001330260.2(SCN8A):c.340A>G (p.Ile114Val)
|
rs527246057
|
0.00002
|
NM_001330260.2(SCN8A):c.3808C>T (p.Leu1270Phe)
|
rs1375638748
|
0.00002
|
NM_001330260.2(SCN8A):c.3839T>C (p.Ile1280Thr)
|
rs766666711
|
0.00002
|
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile)
|
rs780940263
|
0.00002
|
NM_001330260.2(SCN8A):c.5458C>A (p.Arg1820=)
|
rs747526439
|
0.00002
|
NM_001330260.2(SCN8A):c.5662A>T (p.Thr1888Ser)
|
rs748964384
|
0.00002
|
NM_001330260.2(SCN8A):c.5794C>T (p.Arg1932Trp)
|
rs773966403
|
0.00002
|
NM_001330260.2(SCN8A):c.8C>T (p.Ala3Val)
|
rs758891499
|
0.00002
|
NM_006030.4(CACNA2D2):c.100C>T (p.Arg34Trp)
|
rs1477695737
|
0.00002
|
NM_006030.4(CACNA2D2):c.1152+3G>A
|
rs760994346
|
0.00002
|
NM_006030.4(CACNA2D2):c.1153T>A (p.Ser385Thr)
|
rs1392949840
|
0.00002
|
NM_006030.4(CACNA2D2):c.1159A>G (p.Ile387Val)
|
rs1559890242
|
0.00002
|
NM_006030.4(CACNA2D2):c.1259C>T (p.Thr420Met)
|
rs781210506
|
0.00002
|
NM_006030.4(CACNA2D2):c.1282G>A (p.Val428Met)
|
rs748093850
|
0.00002
|
NM_006030.4(CACNA2D2):c.1585G>A (p.Val529Met)
|
rs777062780
|
0.00002
|
NM_006030.4(CACNA2D2):c.1643A>G (p.Tyr548Cys)
|
rs139029952
|
0.00002
|
NM_006030.4(CACNA2D2):c.1714C>T (p.Arg572Trp)
|
rs756299401
|
0.00002
|
NM_006030.4(CACNA2D2):c.1795G>A (p.Gly599Ser)
|
rs148970948
|
0.00002
|
NM_006030.4(CACNA2D2):c.1823C>T (p.Thr608Met)
|
rs759199613
|
0.00002
|
NM_006030.4(CACNA2D2):c.2086G>A (p.Glu696Lys)
|
rs150585955
|
0.00002
|
NM_006030.4(CACNA2D2):c.2095A>G (p.Lys699Glu)
|
rs765505578
|
0.00002
|
NM_006030.4(CACNA2D2):c.2368C>G (p.His790Asp)
|
rs754649287
|
0.00002
|
NM_006030.4(CACNA2D2):c.244G>A (p.Asp82Asn)
|
rs559004773
|
0.00002
|
NM_006030.4(CACNA2D2):c.2570A>G (p.His857Arg)
|
rs745491986
|
0.00002
|
NM_006030.4(CACNA2D2):c.2582C>T (p.Pro861Leu)
|
rs1391105064
|
0.00002
|
NM_006030.4(CACNA2D2):c.2845C>T (p.Pro949Ser)
|
rs749510294
|
0.00002
|
NM_006030.4(CACNA2D2):c.2848C>T (p.Arg950Trp)
|
rs1209696501
|
0.00002
|
NM_006030.4(CACNA2D2):c.288+3G>T
|
rs371798318
|
0.00002
|
NM_006030.4(CACNA2D2):c.2918C>T (p.Ser973Phe)
|
rs762800194
|
0.00002
|
NM_006030.4(CACNA2D2):c.3158C>T (p.Pro1053Leu)
|
rs757572722
|
0.00002
|
NM_006030.4(CACNA2D2):c.3218C>T (p.Pro1073Leu)
|
rs753600233
|
0.00002
|
NM_006030.4(CACNA2D2):c.432C>G (p.Phe144Leu)
|
rs1416473841
|
0.00002
|
NM_006030.4(CACNA2D2):c.502G>A (p.Ala168Thr)
|
rs144099827
|
0.00002
|
NM_006030.4(CACNA2D2):c.814G>A (p.Asp272Asn)
|
rs370218675
|
0.00002
|
NM_006279.5(ST3GAL3):c.1023G>A (p.Met341Ile)
|
rs895326720
|
0.00002
|
NM_006279.5(ST3GAL3):c.1091A>G (p.Lys364Arg)
|
rs779300816
|
0.00002
|
NM_006279.5(ST3GAL3):c.538G>A (p.Asp180Asn)
|
rs769217303
|
0.00002
|
NM_006279.5(ST3GAL3):c.647G>A (p.Arg216Gln)
|
rs368686769
|
0.00002
|
NM_006279.5(ST3GAL3):c.937G>A (p.Gly313Ser)
|
rs777609078
|
0.00002
|
NM_021072.4(HCN1):c.1400G>A (p.Arg467Gln)
|
rs773990933
|
0.00002
|
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg)
|
rs1245405853
|
0.00002
|
NM_021072.4(HCN1):c.1657G>A (p.Val553Ile)
|
rs924134838
|
0.00002
|
NM_021072.4(HCN1):c.1856A>C (p.Asn619Thr)
|
rs778783214
|
0.00002
|
NM_021072.4(HCN1):c.1975C>T (p.Arg659Cys)
|
rs745561895
|
0.00002
|
NM_021072.4(HCN1):c.1977C>T (p.Arg659=)
|
rs1282221978
|
0.00002
|
NM_139318.5(KCNH5):c.1865C>T (p.Thr622Ile)
|
rs376649352
|
0.00002
|
NM_139318.5(KCNH5):c.1883C>T (p.Ala628Val)
|
rs761541451
|
0.00002
|
NM_139318.5(KCNH5):c.2072G>A (p.Arg691Gln)
|
rs200737420
|
0.00002
|
NM_139318.5(KCNH5):c.2089A>T (p.Thr697Ser)
|
rs544844321
|
0.00002
|
NM_139318.5(KCNH5):c.2842C>T (p.Pro948Ser)
|
rs200587228
|
0.00002
|
NM_139318.5(KCNH5):c.460C>T (p.Arg154Trp)
|
rs745970423
|
0.00002
|
NM_172107.4(KCNQ2):c.1121C>T (p.Ser374Leu)
|
rs777940990
|
0.00002
|
NM_172107.4(KCNQ2):c.1352C>T (p.Ala451Val)
|
rs774027338
|
0.00002
|
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val)
|
rs375264483
|
0.00002
|
NM_172107.4(KCNQ2):c.1526A>C (p.Glu509Ala)
|
rs959219090
|
0.00002
|
NM_172107.4(KCNQ2):c.1764-8C>A
|
rs776972460
|
0.00002
|
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His)
|
rs1203495492
|
0.00002
|
NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp)
|
rs755823361
|
0.00002
|
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile)
|
rs759258191
|
0.00002
|
NM_172107.4(KCNQ2):c.2543C>T (p.Pro848Leu)
|
rs377633507
|
0.00002
|
NM_172107.4(KCNQ2):c.2546G>T (p.Cys849Phe)
|
rs768731672
|
0.00002
|
NM_173728.4(ARHGEF15):c.1142A>G (p.Asp381Gly)
|
rs377531916
|
0.00002
|
NM_173728.4(ARHGEF15):c.1673A>C (p.Gln558Pro)
|
rs924531335
|
0.00002
|
NM_173728.4(ARHGEF15):c.1715G>A (p.Arg572His)
|
rs771433483
|
0.00002
|
NM_173728.4(ARHGEF15):c.1729G>C (p.Gly577Arg)
|
rs761486813
|
0.00002
|
NM_173728.4(ARHGEF15):c.1810C>T (p.Arg604Cys)
|
rs587777166
|
0.00002
|
NM_173728.4(ARHGEF15):c.2068C>T (p.Arg690Cys)
|
rs1480801589
|
0.00002
|
NM_173728.4(ARHGEF15):c.2096C>T (p.Pro699Leu)
|
rs934765939
|
0.00002
|
NM_173728.4(ARHGEF15):c.2324G>A (p.Arg775Gln)
|
rs201103318
|
0.00002
|
NM_173728.4(ARHGEF15):c.2485G>A (p.Val829Ile)
|
rs1416824768
|
0.00002
|
NM_173728.4(ARHGEF15):c.386C>T (p.Thr129Met)
|
rs747278375
|
0.00002
|
NM_173728.4(ARHGEF15):c.491G>A (p.Arg164Gln)
|
rs1060500050
|
0.00002
|
NM_173728.4(ARHGEF15):c.83C>T (p.Ser28Phe)
|
rs768425008
|
0.00002
|
NM_173728.4(ARHGEF15):c.854G>A (p.Arg285His)
|
rs554267583
|
0.00002
|
NM_001032221.6(STXBP1):c.1084G>A (p.Val362Ile)
|
rs1046891783
|
0.00001
|
NM_001032221.6(STXBP1):c.1110+6A>T
|
rs886063467
|
0.00001
|
NM_001032221.6(STXBP1):c.1219A>G (p.Ile407Val)
|
rs1841727258
|
0.00001
|
NM_001032221.6(STXBP1):c.1250G>A (p.Gly417Asp)
|
rs796053369
|
0.00001
|
NM_001032221.6(STXBP1):c.1288G>A (p.Ala430Thr)
|
rs148131665
|
0.00001
|
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met)
|
rs762251880
|
0.00001
|
NM_001032221.6(STXBP1):c.1370G>A (p.Arg457His)
|
rs796053389
|
0.00001
|
NM_001032221.6(STXBP1):c.1514G>A (p.Arg505His)
|
rs796053372
|
0.00001
|
NM_001032221.6(STXBP1):c.1606C>T (p.Arg536Cys)
|
rs1241329041
|
0.00001
|
NM_001032221.6(STXBP1):c.1607G>A (p.Arg536His)
|
rs749244650
|
0.00001
|
NM_001032221.6(STXBP1):c.1702+6T>C
|
rs1453195192
|
0.00001
|
NM_001032221.6(STXBP1):c.298C>T (p.Arg100Trp)
|
rs764758291
|
0.00001
|
NM_001032221.6(STXBP1):c.367G>A (p.Ala123Thr)
|
rs1841026087
|
0.00001
|
NM_001032221.6(STXBP1):c.419A>G (p.Tyr140Cys)
|
rs774228113
|
0.00001
|
NM_001032221.6(STXBP1):c.505C>A (p.Leu169Met)
|
rs1410933215
|
0.00001
|
NM_001032221.6(STXBP1):c.511C>T (p.Arg171Cys)
|
rs201772971
|
0.00001
|
NM_001032221.6(STXBP1):c.73A>C (p.Lys25Gln)
|
rs756787732
|
0.00001
|
NM_001032221.6(STXBP1):c.903G>A (p.Gln301=)
|
rs1364462270
|
0.00001
|
NM_001032221.6(STXBP1):c.914G>A (p.Arg305Gln)
|
rs763559860
|
0.00001
|
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys)
|
rs754066930
|
0.00001
|
NM_001130438.3(SPTAN1):c.1049C>T (p.Ala350Val)
|
rs765337732
|
0.00001
|
NM_001130438.3(SPTAN1):c.1258G>A (p.Ala420Thr)
|
rs142410041
|
0.00001
|
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)
|
rs368876195
|
0.00001
|
NM_001130438.3(SPTAN1):c.1306G>A (p.Asp436Asn)
|
rs929796374
|
0.00001
|
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)
|
rs772281075
|
0.00001
|
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His)
|
rs201948749
|
0.00001
|
NM_001130438.3(SPTAN1):c.1462G>A (p.Ala488Thr)
|
rs972504988
|
0.00001
|
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val)
|
rs147444364
|
0.00001
|
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)
|
rs796053315
|
0.00001
|
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
|
rs773328719
|
0.00001
|
NM_001130438.3(SPTAN1):c.1687A>G (p.Met563Val)
|
rs1344488286
|
0.00001
|
NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp)
|
rs773019990
|
0.00001
|
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)
|
rs370304886
|
0.00001
|
NM_001130438.3(SPTAN1):c.1765G>A (p.Val589Ile)
|
rs746961427
|
0.00001
|
NM_001130438.3(SPTAN1):c.1772A>C (p.Glu591Ala)
|
rs1182873506
|
0.00001
|
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=)
|
rs1057523726
|
0.00001
|
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr)
|
rs1564224960
|
0.00001
|
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His)
|
rs370062384
|
0.00001
|
NM_001130438.3(SPTAN1):c.2024G>A (p.Arg675His)
|
rs748338558
|
0.00001
|
NM_001130438.3(SPTAN1):c.2158C>T (p.His720Tyr)
|
rs191761167
|
0.00001
|
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg)
|
rs759274173
|
0.00001
|
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly)
|
rs374506067
|
0.00001
|
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
|
rs146412583
|
0.00001
|
NM_001130438.3(SPTAN1):c.2282C>A (p.Ala761Asp)
|
rs770359554
|
0.00001
|
NM_001130438.3(SPTAN1):c.2395T>C (p.Trp799Arg)
|
rs1852325939
|
0.00001
|
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr)
|
rs1060503490
|
0.00001
|
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys)
|
rs771925044
|
0.00001
|
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg)
|
rs899998696
|
0.00001
|
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)
|
rs776279771
|
0.00001
|
NM_001130438.3(SPTAN1):c.2644C>T (p.Arg882Cys)
|
rs149528201
|
0.00001
|
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp)
|
rs770641858
|
0.00001
|
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)
|
rs943636575
|
0.00001
|
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp)
|
rs781689993
|
0.00001
|
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu)
|
rs370748662
|
0.00001
|
NM_001130438.3(SPTAN1):c.3083A>G (p.Gln1028Arg)
|
rs768500975
|
0.00001
|
NM_001130438.3(SPTAN1):c.3101A>G (p.Asn1034Ser)
|
rs773333330
|
0.00001
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
0.00001
|
NM_001130438.3(SPTAN1):c.3155A>G (p.Gln1052Arg)
|
rs1362381770
|
0.00001
|
NM_001130438.3(SPTAN1):c.3156-11C>G
|
rs781434997
|
0.00001
|
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys)
|
rs200872929
|
0.00001
|
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)
|
rs587784436
|
0.00001
|
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)
|
rs199561983
|
0.00001
|
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His)
|
rs1854608331
|
0.00001
|
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val)
|
rs1060503492
|
0.00001
|
NM_001130438.3(SPTAN1):c.3519+5G>T
|
rs915019884
|
0.00001
|
NM_001130438.3(SPTAN1):c.3536T>A (p.Met1179Lys)
|
rs564155435
|
0.00001
|
NM_001130438.3(SPTAN1):c.353A>C (p.Glu118Ala)
|
rs1360328239
|
0.00001
|
NM_001130438.3(SPTAN1):c.3561G>T (p.Lys1187Asn)
|
rs950316530
|
0.00001
|
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile)
|
rs1850338993
|
0.00001
|
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro)
|
rs781124530
|
0.00001
|
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg)
|
rs745798632
|
0.00001
|
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met)
|
rs1312920158
|
0.00001
|
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)
|
rs942861981
|
0.00001
|
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
|
rs756099218
|
0.00001
|
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)
|
rs773140619
|
0.00001
|
NM_001130438.3(SPTAN1):c.3785G>A (p.Gly1262Glu)
|
rs901228960
|
0.00001
|
NM_001130438.3(SPTAN1):c.3788A>G (p.His1263Arg)
|
rs1322144803
|
0.00001
|
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln)
|
rs768538310
|
0.00001
|
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=)
|
rs745997127
|
0.00001
|
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
|
rs769081903
|
0.00001
|
NM_001130438.3(SPTAN1):c.385C>T (p.Arg129Cys)
|
rs964919191
|
0.00001
|
NM_001130438.3(SPTAN1):c.386G>A (p.Arg129His)
|
rs774397953
|
0.00001
|
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn)
|
rs756084170
|
0.00001
|
NM_001130438.3(SPTAN1):c.4027C>A (p.Arg1343Ser)
|
rs138827421
|
0.00001
|
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys)
|
rs1564278853
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001130438.3(SPTAN1):c.4154G>A (p.Arg1385Gln)
|
rs961027509
|
0.00001
|
NM_001130438.3(SPTAN1):c.4225G>A (p.Gly1409Arg)
|
rs746913959
|
0.00001
|
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys)
|
rs796053317
|
0.00001
|
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys)
|
rs780433514
|
0.00001
|
NM_001130438.3(SPTAN1):c.4672C>T (p.Arg1558Trp)
|
rs750465466
|
0.00001
|
NM_001130438.3(SPTAN1):c.4915G>A (p.Ala1639Thr)
|
rs371679323
|
0.00001
|
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys)
|
rs1251494639
|
0.00001
|
NM_001130438.3(SPTAN1):c.5159A>G (p.Lys1720Arg)
|
rs1451766321
|
0.00001
|
NM_001130438.3(SPTAN1):c.5224G>A (p.Asp1742Asn)
|
rs750748842
|
0.00001
|
NM_001130438.3(SPTAN1):c.5243A>G (p.Asn1748Ser)
|
rs1435643999
|
0.00001
|
NM_001130438.3(SPTAN1):c.5263A>C (p.Lys1755Gln)
|
rs1857087048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val)
|
rs368402085
|
0.00001
|
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)
|
rs764247109
|
0.00001
|
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
|
rs374625039
|
0.00001
|
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
|
rs772382171
|
0.00001
|
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser)
|
rs1287628912
|
0.00001
|
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val)
|
rs781083220
|
0.00001
|
NM_001130438.3(SPTAN1):c.5524G>A (p.Gly1842Arg)
|
rs770133448
|
0.00001
|
NM_001130438.3(SPTAN1):c.5546G>A (p.Arg1849Gln)
|
rs760298084
|
0.00001
|
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)
|
rs961696023
|
0.00001
|
NM_001130438.3(SPTAN1):c.5675A>G (p.Asn1892Ser)
|
rs1425744048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5791G>A (p.Val1931Met)
|
rs371687713
|
0.00001
|
NM_001130438.3(SPTAN1):c.586A>G (p.Thr196Ala)
|
rs940919276
|
0.00001
|
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn)
|
rs778709187
|
0.00001
|
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)
|
rs777407223
|
0.00001
|
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
|
rs924110992
|
0.00001
|
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)
|
rs754276364
|
0.00001
|
NM_001130438.3(SPTAN1):c.6113T>C (p.Ile2038Thr)
|
rs1227328885
|
0.00001
|
NM_001130438.3(SPTAN1):c.6141G>T (p.Gln2047His)
|
rs1244126171
|
0.00001
|
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)
|
rs762645157
|
0.00001
|
NM_001130438.3(SPTAN1):c.6160G>A (p.Val2054Ile)
|
rs771286283
|
0.00001
|
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)
|
rs751423380
|
0.00001
|
NM_001130438.3(SPTAN1):c.6196C>T (p.Leu2066Phe)
|
rs1286936741
|
0.00001
|
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly)
|
rs766038302
|
0.00001
|
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg)
|
rs754910706
|
0.00001
|
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys)
|
rs752560514
|
0.00001
|
NM_001130438.3(SPTAN1):c.6274C>T (p.Arg2092Cys)
|
rs771651648
|
0.00001
|
NM_001130438.3(SPTAN1):c.6279+4A>T
|
rs1274186786
|
0.00001
|
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His)
|
rs763928650
|
0.00001
|
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His)
|
rs796053324
|
0.00001
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
NM_001130438.3(SPTAN1):c.6728C>T (p.Ser2243Leu)
|
rs769859369
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001130438.3(SPTAN1):c.6959+5C>G
|
rs1057523269
|
0.00001
|
NM_001130438.3(SPTAN1):c.7088A>G (p.Asp2363Gly)
|
rs1256953654
|
0.00001
|
NM_001130438.3(SPTAN1):c.7114C>T (p.Pro2372Ser)
|
rs1859963796
|
0.00001
|
NM_001130438.3(SPTAN1):c.713A>G (p.Gln238Arg)
|
rs758342554
|
0.00001
|
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
|
rs796053331
|
0.00001
|
NM_001130438.3(SPTAN1):c.7148T>C (p.Val2383Ala)
|
rs754183499
|
0.00001
|
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
|
rs763806998
|
0.00001
|
NM_001130438.3(SPTAN1):c.7207C>T (p.Arg2403Cys)
|
rs1285764786
|
0.00001
|
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val)
|
rs768195496
|
0.00001
|
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)
|
rs772995493
|
0.00001
|
NM_001130438.3(SPTAN1):c.7285G>A (p.Val2429Met)
|
rs1344858192
|
0.00001
|
NM_001130438.3(SPTAN1):c.7339G>A (p.Val2447Ile)
|
rs764312862
|
0.00001
|
NM_001130438.3(SPTAN1):c.7343C>T (p.Ser2448Phe)
|
rs1248425869
|
0.00001
|
NM_001130438.3(SPTAN1):c.7354C>A (p.Pro2452Thr)
|
rs767620941
|
0.00001
|
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys)
|
rs1160694512
|
0.00001
|
NM_001130438.3(SPTAN1):c.7376G>A (p.Arg2459His)
|
rs751323903
|
0.00001
|
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)
|
rs759975874
|
0.00001
|
NM_001130438.3(SPTAN1):c.7426G>A (p.Val2476Met)
|
rs199569281
|
0.00001
|
NM_001130438.3(SPTAN1):c.775C>T (p.Arg259Cys)
|
rs151150353
|
0.00001
|
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
|
rs772367229
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+5C>T
|
rs776310053
|
0.00001
|
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)
|
rs747510615
|
0.00001
|
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys)
|
rs794727910
|
0.00001
|
NM_001130438.3(SPTAN1):c.988A>G (p.Thr330Ala)
|
rs924198534
|
0.00001
|
NM_001165963.4(SCN1A):c.1040A>G (p.Glu347Gly)
|
rs904247739
|
0.00001
|
NM_001165963.4(SCN1A):c.1049T>C (p.Met350Thr)
|
rs1283627130
|
0.00001
|
NM_001165963.4(SCN1A):c.1054G>A (p.Val352Met)
|
rs779188944
|
0.00001
|
NM_001165963.4(SCN1A):c.1170+3G>A
|
rs1289808926
|
0.00001
|
NM_001165963.4(SCN1A):c.1195T>C (p.Tyr399His)
|
rs796052974
|
0.00001
|
NM_001165963.4(SCN1A):c.125A>C (p.Lys42Thr)
|
rs760777182
|
0.00001
|
NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys)
|
rs1300925640
|
0.00001
|
NM_001165963.4(SCN1A):c.1360C>A (p.Gln454Lys)
|
rs1465196014
|
0.00001
|
NM_001165963.4(SCN1A):c.1366G>C (p.Glu456Gln)
|
rs1375242070
|
0.00001
|
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp)
|
rs141188608
|
0.00001
|
NM_001165963.4(SCN1A):c.1579G>A (p.Asp527Asn)
|
rs1191091069
|
0.00001
|
NM_001165963.4(SCN1A):c.1663-3T>C
|
rs766418091
|
0.00001
|
NM_001165963.4(SCN1A):c.1668G>T (p.Leu556Phe)
|
rs762975379
|
0.00001
|
NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys)
|
rs768764142
|
0.00001
|
NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His)
|
rs746769373
|
0.00001
|
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg)
|
rs753050564
|
0.00001
|
NM_001165963.4(SCN1A):c.1757C>T (p.Ser586Phe)
|
rs1697487602
|
0.00001
|
NM_001165963.4(SCN1A):c.1779T>G (p.Asp593Glu)
|
rs1201949487
|
0.00001
|
NM_001165963.4(SCN1A):c.1933G>T (p.Val645Leu)
|
rs747681959
|
0.00001
|
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu)
|
rs570326929
|
0.00001
|
NM_001165963.4(SCN1A):c.2043T>C (p.Asn681=)
|
rs754934003
|
0.00001
|
NM_001165963.4(SCN1A):c.2102T>G (p.Met701Arg)
|
rs763445773
|
0.00001
|
NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln)
|
rs138799232
|
0.00001
|
NM_001165963.4(SCN1A):c.2215T>C (p.Tyr739His)
|
rs768736409
|
0.00001
|
NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala)
|
rs1302724105
|
0.00001
|
NM_001165963.4(SCN1A):c.2416-10T>G
|
rs1696892038
|
0.00001
|
NM_001165963.4(SCN1A):c.2468A>G (p.Asp823Gly)
|
rs1035633632
|
0.00001
|
NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser)
|
rs780963881
|
0.00001
|
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys)
|
rs1422284356
|
0.00001
|
NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu)
|
rs1299251889
|
0.00001
|
NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser)
|
rs779561135
|
0.00001
|
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser)
|
rs1004366186
|
0.00001
|
NM_001165963.4(SCN1A):c.25C>G (p.Pro9Ala)
|
rs757688309
|
0.00001
|
NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn)
|
rs1025532519
|
0.00001
|
NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met)
|
rs368663649
|
0.00001
|
NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile)
|
rs12617205
|
0.00001
|
NM_001165963.4(SCN1A):c.2784A>C (p.Gln928His)
|
rs138376436
|
0.00001
|
NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu)
|
rs375909896
|
0.00001
|
NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser)
|
rs796052992
|
0.00001
|
NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu)
|
rs376649518
|
0.00001
|
NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro)
|
rs776055539
|
0.00001
|
NM_001165963.4(SCN1A):c.3175G>T (p.Asp1059Tyr)
|
rs1426284889
|
0.00001
|
NM_001165963.4(SCN1A):c.3283T>C (p.Tyr1095His)
|
rs1388336286
|
0.00001
|
NM_001165963.4(SCN1A):c.32C>A (p.Pro11His)
|
rs1350460260
|
0.00001
|
NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr)
|
rs753452775
|
0.00001
|
NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile)
|
rs774410570
|
0.00001
|
NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn)
|
rs372555722
|
0.00001
|
NM_001165963.4(SCN1A):c.3392A>G (p.Asp1131Gly)
|
rs1252603738
|
0.00001
|
NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu)
|
rs746718015
|
0.00001
|
NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn)
|
rs1213569051
|
0.00001
|
NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr)
|
rs763254451
|
0.00001
|
NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr)
|
rs776629634
|
0.00001
|
NM_001165963.4(SCN1A):c.3760T>C (p.Tyr1254His)
|
rs1475198821
|
0.00001
|
NM_001165963.4(SCN1A):c.3890T>G (p.Val1297Gly)
|
rs781267314
|
0.00001
|
NM_001165963.4(SCN1A):c.3955A>G (p.Arg1319Gly)
|
rs1553529492
|
0.00001
|
NM_001165963.4(SCN1A):c.4179T>A (p.His1393Gln)
|
rs772400574
|
0.00001
|
NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala)
|
rs796052956
|
0.00001
|
NM_001165963.4(SCN1A):c.4210G>A (p.Glu1404Lys)
|
rs200406481
|
0.00001
|
NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met)
|
rs1691042935
|
0.00001
|
NM_001165963.4(SCN1A):c.4342G>C (p.Glu1448Gln)
|
rs1193847815
|
0.00001
|
NM_001165963.4(SCN1A):c.452C>T (p.Pro151Leu)
|
rs1699141193
|
0.00001
|
NM_001165963.4(SCN1A):c.4567A>G (p.Ile1523Val)
|
rs1474960995
|
0.00001
|
NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln)
|
rs1559114408
|
0.00001
|
NM_001165963.4(SCN1A):c.4580G>C (p.Gly1527Ala)
|
rs751929295
|
0.00001
|
NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu)
|
rs1689724218
|
0.00001
|
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)
|
rs121917992
|
0.00001
|
NM_001165963.4(SCN1A):c.4690G>A (p.Asp1564Asn)
|
rs766227610
|
0.00001
|
NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe)
|
rs377325221
|
0.00001
|
NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys)
|
rs548487014
|
0.00001
|
NM_001165963.4(SCN1A):c.5236G>C (p.Val1746Leu)
|
rs777579756
|
0.00001
|
NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn)
|
rs747251662
|
0.00001
|
NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val)
|
rs1689187575
|
0.00001
|
NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp)
|
rs1419611654
|
0.00001
|
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln)
|
rs777631884
|
0.00001
|
NM_001165963.4(SCN1A):c.5618A>G (p.Lys1873Arg)
|
rs1689172357
|
0.00001
|
NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln)
|
rs373896263
|
0.00001
|
NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His)
|
rs3749029
|
0.00001
|
NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His)
|
rs1477444505
|
0.00001
|
NM_001165963.4(SCN1A):c.5812G>A (p.Ala1938Thr)
|
rs536616689
|
0.00001
|
NM_001165963.4(SCN1A):c.5831A>T (p.Lys1944Ile)
|
rs753059561
|
0.00001
|
NM_001165963.4(SCN1A):c.5832A>T (p.Lys1944Asn)
|
rs1255900122
|
0.00001
|
NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly)
|
rs771936735
|
0.00001
|
NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln)
|
rs769477807
|
0.00001
|
NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val)
|
rs751750112
|
0.00001
|
NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile)
|
rs569880910
|
0.00001
|
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)
|
rs886039456
|
0.00001
|
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys)
|
rs1285055471
|
0.00001
|
NM_001165963.4(SCN1A):c.853G>T (p.Ala285Ser)
|
rs777386001
|
0.00001
|
NM_001165963.4(SCN1A):c.97A>G (p.Lys33Glu)
|
rs375913842
|
0.00001
|
NM_001191061.2(SLC25A22):c.16A>G (p.Ile6Val)
|
rs1362967882
|
0.00001
|
NM_001191061.2(SLC25A22):c.172C>T (p.Arg58Cys)
|
rs202242484
|
0.00001
|
NM_001191061.2(SLC25A22):c.173G>A (p.Arg58His)
|
rs754048758
|
0.00001
|
NM_001191061.2(SLC25A22):c.178G>A (p.Glu60Lys)
|
rs193920962
|
0.00001
|
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp)
|
rs780763318
|
0.00001
|
NM_001191061.2(SLC25A22):c.251T>G (p.Leu84Arg)
|
rs772950759
|
0.00001
|
NM_001191061.2(SLC25A22):c.272G>A (p.Arg91Gln)
|
rs199841087
|
0.00001
|
NM_001191061.2(SLC25A22):c.284C>G (p.Ser95Cys)
|
rs369735050
|
0.00001
|
NM_001191061.2(SLC25A22):c.307C>G (p.Leu103Val)
|
rs370392070
|
0.00001
|
NM_001191061.2(SLC25A22):c.313A>G (p.Lys105Glu)
|
rs1373412474
|
0.00001
|
NM_001191061.2(SLC25A22):c.340G>A (p.Gly114Ser)
|
rs905293556
|
0.00001
|
NM_001191061.2(SLC25A22):c.358G>A (p.Val120Met)
|
rs774410865
|
0.00001
|
NM_001191061.2(SLC25A22):c.416C>G (p.Ala139Gly)
|
rs974302832
|
0.00001
|
NM_001191061.2(SLC25A22):c.467C>A (p.Ala156Asp)
|
rs1353048193
|
0.00001
|
NM_001191061.2(SLC25A22):c.521C>T (p.Thr174Ile)
|
rs773623968
|
0.00001
|
NM_001191061.2(SLC25A22):c.578C>T (p.Thr193Met)
|
rs770357560
|
0.00001
|
NM_001191061.2(SLC25A22):c.652G>T (p.Ala218Ser)
|
rs561163386
|
0.00001
|
NM_001191061.2(SLC25A22):c.661G>A (p.Glu221Lys)
|
rs1441545632
|
0.00001
|
NM_001191061.2(SLC25A22):c.67G>A (p.Val23Ile)
|
rs1225734619
|
0.00001
|
NM_001191061.2(SLC25A22):c.752C>T (p.Thr251Met)
|
rs1332876414
|
0.00001
|
NM_001191061.2(SLC25A22):c.770A>G (p.Gln257Arg)
|
rs1384185673
|
0.00001
|
NM_001191061.2(SLC25A22):c.797C>T (p.Ser266Phe)
|
rs939554287
|
0.00001
|
NM_001191061.2(SLC25A22):c.829C>T (p.Arg277Trp)
|
rs567628237
|
0.00001
|
NM_001191061.2(SLC25A22):c.874G>A (p.Ala292Thr)
|
rs369729483
|
0.00001
|
NM_001191061.2(SLC25A22):c.875C>T (p.Ala292Val)
|
rs183409730
|
0.00001
|
NM_001191061.2(SLC25A22):c.898G>A (p.Gly300Ser)
|
rs969554802
|
0.00001
|
NM_001191061.2(SLC25A22):c.967G>A (p.Ala323Thr)
|
rs774103118
|
0.00001
|
NM_001330260.2(SCN8A):c.1084G>T (p.Ala362Ser)
|
rs1592390497
|
0.00001
|
NM_001330260.2(SCN8A):c.1165A>T (p.Ile389Phe)
|
rs1334454056
|
0.00001
|
NM_001330260.2(SCN8A):c.11G>A (p.Arg4Gln)
|
rs751889285
|
0.00001
|
NM_001330260.2(SCN8A):c.1396G>A (p.Glu466Lys)
|
rs557559740
|
0.00001
|
NM_001330260.2(SCN8A):c.1411G>A (p.Gly471Arg)
|
rs748156622
|
0.00001
|
NM_001330260.2(SCN8A):c.1423C>T (p.Arg475Trp)
|
rs771577480
|
0.00001
|
NM_001330260.2(SCN8A):c.1439T>C (p.Ile480Thr)
|
rs1159903256
|
0.00001
|
NM_001330260.2(SCN8A):c.1445A>G (p.Lys482Arg)
|
rs769520392
|
0.00001
|
NM_001330260.2(SCN8A):c.1474C>T (p.Arg492Cys)
|
rs576362165
|
0.00001
|
NM_001330260.2(SCN8A):c.1504G>A (p.Glu502Lys)
|
rs201487381
|
0.00001
|
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val)
|
rs1022856027
|
0.00001
|
NM_001330260.2(SCN8A):c.1792C>T (p.Arg598Trp)
|
rs1064796357
|
0.00001
|
NM_001330260.2(SCN8A):c.1801C>T (p.Leu601Phe)
|
rs1374989397
|
0.00001
|
NM_001330260.2(SCN8A):c.1814T>C (p.Ile605Thr)
|
rs960926390
|
0.00001
|
NM_001330260.2(SCN8A):c.1817G>A (p.Arg606Gln)
|
rs1359860813
|
0.00001
|
NM_001330260.2(SCN8A):c.1828C>A (p.Arg610Ser)
|
rs917515945
|
0.00001
|
NM_001330260.2(SCN8A):c.1832G>A (p.Arg611Gln)
|
rs866054004
|
0.00001
|
NM_001330260.2(SCN8A):c.1837A>G (p.Ser613Gly)
|
rs749121003
|
0.00001
|
NM_001330260.2(SCN8A):c.1874G>A (p.Arg625His)
|
rs765763546
|
0.00001
|
NM_001330260.2(SCN8A):c.1880C>T (p.Ser627Leu)
|
rs1198276041
|
0.00001
|
NM_001330260.2(SCN8A):c.1883G>C (p.Arg628Pro)
|
rs763701191
|
0.00001
|
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile)
|
rs758253791
|
0.00001
|
NM_001330260.2(SCN8A):c.2042T>A (p.Leu681His)
|
rs769132740
|
0.00001
|
NM_001330260.2(SCN8A):c.2058C>G (p.Asp686Glu)
|
rs1208300274
|
0.00001
|
NM_001330260.2(SCN8A):c.2074G>A (p.Gly692Arg)
|
rs1037521613
|
0.00001
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
NM_001330260.2(SCN8A):c.2188T>G (p.Phe730Val)
|
rs923938885
|
0.00001
|
NM_001330260.2(SCN8A):c.2290G>A (p.Val764Ile)
|
rs1229931495
|
0.00001
|
NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile)
|
rs775593096
|
0.00001
|
NM_001330260.2(SCN8A):c.2389A>G (p.Thr797Ala)
|
rs1482268495
|
0.00001
|
NM_001330260.2(SCN8A):c.2403C>G (p.Phe801Leu)
|
rs748828215
|
0.00001
|
NM_001330260.2(SCN8A):c.2415A>G (p.Ile805Met)
|
rs1280217170
|
0.00001
|
NM_001330260.2(SCN8A):c.269C>T (p.Thr90Met)
|
rs763078635
|
0.00001
|
NM_001330260.2(SCN8A):c.2721G>C (p.Lys907Asn)
|
rs1038198905
|
0.00001
|
NM_001330260.2(SCN8A):c.296G>C (p.Arg99Thr)
|
rs370578497
|
0.00001
|
NM_001330260.2(SCN8A):c.3008G>A (p.Arg1003His)
|
rs752402332
|
0.00001
|
NM_001330260.2(SCN8A):c.3040A>G (p.Lys1014Glu)
|
rs1019969857
|
0.00001
|
NM_001330260.2(SCN8A):c.3044T>C (p.Val1015Ala)
|
rs1423546979
|
0.00001
|
NM_001330260.2(SCN8A):c.3129C>G (p.Asn1043Lys)
|
rs199680789
|
0.00001
|
NM_001330260.2(SCN8A):c.3136G>A (p.Ala1046Thr)
|
rs775833241
|
0.00001
|
NM_001330260.2(SCN8A):c.3140A>G (p.Asn1047Ser)
|
rs762469719
|
0.00001
|
NM_001330260.2(SCN8A):c.3152C>T (p.Ala1051Val)
|
rs376547086
|
0.00001
|
NM_001330260.2(SCN8A):c.3161A>C (p.His1054Pro)
|
rs1060501009
|
0.00001
|
NM_001330260.2(SCN8A):c.3164G>A (p.Arg1055Gln)
|
rs756127631
|
0.00001
|
NM_001330260.2(SCN8A):c.3230A>G (p.Tyr1077Cys)
|
rs746302474
|
0.00001
|
NM_001330260.2(SCN8A):c.3256T>C (p.Phe1086Leu)
|
rs1395703313
|
0.00001
|
NM_001330260.2(SCN8A):c.3269C>T (p.Pro1090Leu)
|
rs767071719
|
0.00001
|
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=)
|
rs745966369
|
0.00001
|
NM_001330260.2(SCN8A):c.3356C>T (p.Pro1119Leu)
|
rs372096102
|
0.00001
|
NM_001330260.2(SCN8A):c.3364A>T (p.Ser1122Cys)
|
rs554826191
|
0.00001
|
NM_001330260.2(SCN8A):c.3372T>G (p.Asp1124Glu)
|
rs574382050
|
0.00001
|
NM_001330260.2(SCN8A):c.3496G>A (p.Val1166Ile)
|
rs376406345
|
0.00001
|
NM_001330260.2(SCN8A):c.363A>G (p.Ile121Met)
|
rs752190543
|
0.00001
|
NM_001330260.2(SCN8A):c.3722A>G (p.Tyr1241Cys)
|
rs796053213
|
0.00001
|
NM_001330260.2(SCN8A):c.372A>G (p.Ile124Met)
|
rs574226931
|
0.00001
|
NM_001330260.2(SCN8A):c.3761A>G (p.Tyr1254Cys)
|
rs1199744177
|
0.00001
|
NM_001330260.2(SCN8A):c.396-3T>C
|
rs752458453
|
0.00001
|
NM_001330260.2(SCN8A):c.457A>C (p.Asn153His)
|
rs796053232
|
0.00001
|
NM_001330260.2(SCN8A):c.4687A>G (p.Ile1563Val)
|
rs751979396
|
0.00001
|
NM_001330260.2(SCN8A):c.4722T>G (p.Phe1574Leu)
|
rs1377093609
|
0.00001
|
NM_001330260.2(SCN8A):c.4724C>T (p.Ala1575Val)
|
rs182326351
|
0.00001
|
NM_001330260.2(SCN8A):c.4739A>G (p.Tyr1580Cys)
|
rs1326992524
|
0.00001
|
NM_001330260.2(SCN8A):c.4780A>C (p.Ile1594Leu)
|
rs752829853
|
0.00001
|
NM_001330260.2(SCN8A):c.5035G>A (p.Glu1679Lys)
|
rs796053225
|
0.00001
|
NM_001330260.2(SCN8A):c.508A>T (p.Thr170Ser)
|
rs763847342
|
0.00001
|
NM_001330260.2(SCN8A):c.520C>G (p.Leu174Val)
|
rs1941432036
|
0.00001
|
NM_001330260.2(SCN8A):c.5491G>A (p.Ala1831Thr)
|
rs767305170
|
0.00001
|
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp)
|
rs1352614116
|
0.00001
|
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp)
|
rs1230372504
|
0.00001
|
NM_001330260.2(SCN8A):c.5687A>G (p.Glu1896Gly)
|
rs761793809
|
0.00001
|
NM_001330260.2(SCN8A):c.5710C>T (p.Arg1904Cys)
|
rs367984544
|
0.00001
|
NM_001330260.2(SCN8A):c.5711G>A (p.Arg1904His)
|
rs142069713
|
0.00001
|
NM_001330260.2(SCN8A):c.5720G>A (p.Arg1907Gln)
|
rs1442612004
|
0.00001
|
NM_001330260.2(SCN8A):c.5786G>C (p.Gly1929Ala)
|
rs748909364
|
0.00001
|
NM_001330260.2(SCN8A):c.5809A>C (p.Ser1937Arg)
|
rs796053230
|
0.00001
|
NM_001330260.2(SCN8A):c.5836T>A (p.Ser1946Thr)
|
rs376076659
|
0.00001
|
NM_001330260.2(SCN8A):c.5878C>T (p.Arg1960Trp)
|
rs1021136260
|
0.00001
|
NM_001330260.2(SCN8A):c.5890G>A (p.Gly1964Arg)
|
rs756678417
|
0.00001
|
NM_001330260.2(SCN8A):c.5938T>A (p.Cys1980Ser)
|
rs1322359113
|
0.00001
|
NM_001330260.2(SCN8A):c.615-151G>T
|
rs1941461790
|
0.00001
|
NM_001330260.2(SCN8A):c.706+1G>A
|
rs1259864188
|
0.00001
|
NM_001330260.2(SCN8A):c.70A>G (p.Asn24Asp)
|
rs1170755479
|
0.00001
|
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)
|
rs769269501
|
0.00001
|
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys)
|
rs1303731165
|
0.00001
|
NM_001330260.2(SCN8A):c.83G>A (p.Arg28His)
|
rs531796685
|
0.00001
|
NM_001330260.2(SCN8A):c.902A>G (p.Asp301Gly)
|
rs368726668
|
0.00001
|
NM_001330260.2(SCN8A):c.996A>G (p.Gln332=)
|
rs1057522020
|
0.00001
|
NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys)
|
rs1414358056
|
0.00001
|
NM_003165.6(STXBP1):c.1749A>C (p.Arg583Ser)
|
rs757607352
|
0.00001
|
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn)
|
rs746172968
|
0.00001
|
NM_006030.4(CACNA2D2):c.1046A>G (p.Asn349Ser)
|
rs1231684830
|
0.00001
|
NM_006030.4(CACNA2D2):c.1103C>G (p.Thr368Ser)
|
rs1343864972
|
0.00001
|
NM_006030.4(CACNA2D2):c.1157A>G (p.Asn386Ser)
|
rs773773742
|
0.00001
|
NM_006030.4(CACNA2D2):c.1199C>T (p.Thr400Met)
|
rs753717572
|
0.00001
|
NM_006030.4(CACNA2D2):c.1219G>A (p.Val407Met)
|
rs759690468
|
0.00001
|
NM_006030.4(CACNA2D2):c.1228G>A (p.Val410Ile)
|
rs763416643
|
0.00001
|
NM_006030.4(CACNA2D2):c.1303G>A (p.Val435Ile)
|
rs370345961
|
0.00001
|
NM_006030.4(CACNA2D2):c.1307C>T (p.Thr436Ile)
|
rs1575601988
|
0.00001
|
NM_006030.4(CACNA2D2):c.1363A>G (p.Ile455Val)
|
rs1330620405
|
0.00001
|
NM_006030.4(CACNA2D2):c.1400A>G (p.Asp467Gly)
|
rs377399843
|
0.00001
|
NM_006030.4(CACNA2D2):c.1462G>A (p.Val488Met)
|
rs749986337
|
0.00001
|
NM_006030.4(CACNA2D2):c.146C>T (p.Pro49Leu)
|
rs951683514
|
0.00001
|
NM_006030.4(CACNA2D2):c.1479+7C>T
|
rs764916520
|
0.00001
|
NM_006030.4(CACNA2D2):c.1513G>A (p.Val505Ile)
|
rs763706652
|
0.00001
|
NM_006030.4(CACNA2D2):c.1526C>A (p.Thr509Lys)
|
rs926707544
|
0.00001
|
NM_006030.4(CACNA2D2):c.1551+5G>A
|
rs766412890
|
0.00001
|
NM_006030.4(CACNA2D2):c.1573A>G (p.Met525Val)
|
rs765442855
|
0.00001
|
NM_006030.4(CACNA2D2):c.1580T>C (p.Ile527Thr)
|
rs1705053799
|
0.00001
|
NM_006030.4(CACNA2D2):c.1604A>G (p.Lys535Arg)
|
rs1357228417
|
0.00001
|
NM_006030.4(CACNA2D2):c.1709A>G (p.Asn570Ser)
|
rs1449967398
|
0.00001
|
NM_006030.4(CACNA2D2):c.1715G>A (p.Arg572Gln)
|
rs141415086
|
0.00001
|
NM_006030.4(CACNA2D2):c.1726A>G (p.Thr576Ala)
|
rs1704965054
|
0.00001
|
NM_006030.4(CACNA2D2):c.1768G>A (p.Glu590Lys)
|
rs1410939928
|
0.00001
|
NM_006030.4(CACNA2D2):c.1811A>G (p.Lys604Arg)
|
rs767025665
|
0.00001
|
NM_006030.4(CACNA2D2):c.1817T>C (p.Ile606Thr)
|
rs1029732146
|
0.00001
|
NM_006030.4(CACNA2D2):c.1849T>A (p.Tyr617Asn)
|
rs1177285654
|
0.00001
|
NM_006030.4(CACNA2D2):c.1874A>G (p.Tyr625Cys)
|
rs780181502
|
0.00001
|
NM_006030.4(CACNA2D2):c.1877C>T (p.Thr626Ile)
|
rs772309641
|
0.00001
|
NM_006030.4(CACNA2D2):c.188G>A (p.Ser63Asn)
|
rs71615489
|
0.00001
|
NM_006030.4(CACNA2D2):c.1890A>G (p.Ile630Met)
|
rs1022878150
|
0.00001
|
NM_006030.4(CACNA2D2):c.1908-3C>T
|
rs756712440
|
0.00001
|
NM_006030.4(CACNA2D2):c.196C>G (p.Gln66Glu)
|
rs1387533563
|
0.00001
|
NM_006030.4(CACNA2D2):c.197A>G (p.Gln66Arg)
|
rs1212587301
|
0.00001
|
NM_006030.4(CACNA2D2):c.2008A>G (p.Ser670Gly)
|
rs1325283647
|
0.00001
|
NM_006030.4(CACNA2D2):c.2046A>G (p.Arg682=)
|
rs1240659762
|
0.00001
|
NM_006030.4(CACNA2D2):c.208A>G (p.Met70Val)
|
rs201445431
|
0.00001
|
NM_006030.4(CACNA2D2):c.215A>G (p.His72Arg)
|
rs754908844
|
0.00001
|
NM_006030.4(CACNA2D2):c.2318A>C (p.Glu773Ala)
|
rs976135835
|
0.00001
|
NM_006030.4(CACNA2D2):c.2351G>A (p.Arg784His)
|
rs779297579
|
0.00001
|
NM_006030.4(CACNA2D2):c.2354G>A (p.Arg785His)
|
rs1011668282
|
0.00001
|
NM_006030.4(CACNA2D2):c.2390C>G (p.Pro797Arg)
|
rs1352950797
|
0.00001
|
NM_006030.4(CACNA2D2):c.2470A>G (p.Ser824Gly)
|
rs1001681732
|
0.00001
|
NM_006030.4(CACNA2D2):c.2476G>C (p.Gly826Arg)
|
rs1210463730
|
0.00001
|
NM_006030.4(CACNA2D2):c.2509G>A (p.Val837Ile)
|
rs199555638
|
0.00001
|
NM_006030.4(CACNA2D2):c.250G>A (p.Val84Met)
|
rs367932722
|
0.00001
|
NM_006030.4(CACNA2D2):c.256C>T (p.Arg86Trp)
|
rs1486643227
|
0.00001
|
NM_006030.4(CACNA2D2):c.257G>A (p.Arg86Gln)
|
rs543807415
|
0.00001
|
NM_006030.4(CACNA2D2):c.2593G>A (p.Gly865Ser)
|
rs771425016
|
0.00001
|
NM_006030.4(CACNA2D2):c.2599A>C (p.Asn867His)
|
rs369917706
|
0.00001
|
NM_006030.4(CACNA2D2):c.2611G>C (p.Glu871Gln)
|
rs201759671
|
0.00001
|
NM_006030.4(CACNA2D2):c.2633A>G (p.Asn878Ser)
|
rs747980917
|
0.00001
|
NM_006030.4(CACNA2D2):c.2777C>T (p.Thr926Ile)
|
rs1553725746
|
0.00001
|
NM_006030.4(CACNA2D2):c.2852G>T (p.Gly951Val)
|
rs756463697
|
0.00001
|
NM_006030.4(CACNA2D2):c.2866A>G (p.Thr956Ala)
|
rs762542107
|
0.00001
|
NM_006030.4(CACNA2D2):c.2873C>T (p.Ala958Val)
|
rs1704238428
|
0.00001
|
NM_006030.4(CACNA2D2):c.2903C>G (p.Ser968Cys)
|
rs1435949850
|
0.00001
|
NM_006030.4(CACNA2D2):c.2935C>T (p.Leu979Phe)
|
rs587637498
|
0.00001
|
NM_006030.4(CACNA2D2):c.2956A>G (p.Ser986Gly)
|
rs1018844429
|
0.00001
|
NM_006030.4(CACNA2D2):c.2971+6T>C
|
rs370683787
|
0.00001
|
NM_006030.4(CACNA2D2):c.299A>G (p.Asp100Gly)
|
rs952080563
|
0.00001
|
NM_006030.4(CACNA2D2):c.3004C>A (p.Arg1002Ser)
|
rs764066785
|
0.00001
|
NM_006030.4(CACNA2D2):c.3047G>A (p.Gly1016Asp)
|
rs774959195
|
0.00001
|
NM_006030.4(CACNA2D2):c.3050C>G (p.Ser1017Trp)
|
rs745556824
|
0.00001
|
NM_006030.4(CACNA2D2):c.3052G>T (p.Val1018Leu)
|
rs1428813959
|
0.00001
|
NM_006030.4(CACNA2D2):c.305G>A (p.Arg102Gln)
|
rs376677841
|
0.00001
|
NM_006030.4(CACNA2D2):c.3076A>G (p.Ile1026Val)
|
rs1282276507
|
0.00001
|
NM_006030.4(CACNA2D2):c.3079G>T (p.Asp1027Tyr)
|
rs587631845
|
0.00001
|
NM_006030.4(CACNA2D2):c.3212A>G (p.Asp1071Gly)
|
rs749883627
|
0.00001
|
NM_006030.4(CACNA2D2):c.323A>G (p.Gln108Arg)
|
rs752989113
|
0.00001
|
NM_006030.4(CACNA2D2):c.3409_3425del (p.Val1137fs)
|
rs1222641070
|
0.00001
|
NM_006030.4(CACNA2D2):c.446G>A (p.Arg149His)
|
rs767037942
|
0.00001
|
NM_006030.4(CACNA2D2):c.465+3A>G
|
rs762801319
|
0.00001
|
NM_006030.4(CACNA2D2):c.586A>G (p.Asn196Asp)
|
rs1037048706
|
0.00001
|
NM_006030.4(CACNA2D2):c.601G>A (p.Val201Ile)
|
rs866928902
|
0.00001
|
NM_006030.4(CACNA2D2):c.688G>A (p.Ala230Thr)
|
rs754999742
|
0.00001
|
NM_006030.4(CACNA2D2):c.782C>T (p.Pro261Leu)
|
rs1211603072
|
0.00001
|
NM_006030.4(CACNA2D2):c.783G>A (p.Pro261=)
|
rs370672130
|
0.00001
|
NM_006030.4(CACNA2D2):c.886G>A (p.Val296Met)
|
rs774335275
|
0.00001
|
NM_006030.4(CACNA2D2):c.934A>T (p.Thr312Ser)
|
rs1034742584
|
0.00001
|
NM_006279.5(ST3GAL3):c.1015G>A (p.Val339Ile)
|
rs767586606
|
0.00001
|
NM_006279.5(ST3GAL3):c.1038+4C>T
|
rs925554530
|
0.00001
|
NM_006279.5(ST3GAL3):c.1061G>A (p.Arg354Gln)
|
rs766081620
|
0.00001
|
NM_006279.5(ST3GAL3):c.1078C>T (p.Arg360Trp)
|
rs546025340
|
0.00001
|
NM_006279.5(ST3GAL3):c.1097G>A (p.Arg366His)
|
rs572958701
|
0.00001
|
NM_006279.5(ST3GAL3):c.116C>T (p.Ser39Phe)
|
rs774202202
|
0.00001
|
NM_006279.5(ST3GAL3):c.118+5G>A
|
rs759128744
|
0.00001
|
NM_006279.5(ST3GAL3):c.235G>A (p.Ala79Thr)
|
rs778068441
|
0.00001
|
NM_006279.5(ST3GAL3):c.26A>G (p.Asn9Ser)
|
rs1441726807
|
0.00001
|
NM_006279.5(ST3GAL3):c.287C>T (p.Thr96Met)
|
rs376537870
|
0.00001
|
NM_006279.5(ST3GAL3):c.369C>A (p.Phe123Leu)
|
rs751856791
|
0.00001
|
NM_006279.5(ST3GAL3):c.397+3A>G
|
rs747970573
|
0.00001
|
NM_006279.5(ST3GAL3):c.410A>G (p.Lys137Arg)
|
rs1485860306
|
0.00001
|
NM_006279.5(ST3GAL3):c.466C>T (p.Arg156Cys)
|
rs1345522834
|
0.00001
|
NM_006279.5(ST3GAL3):c.475C>T (p.Arg159Cys)
|
rs1558784546
|
0.00001
|
NM_006279.5(ST3GAL3):c.494A>G (p.Asn165Ser)
|
rs761710359
|
0.00001
|
NM_006279.5(ST3GAL3):c.530G>A (p.Arg177Gln)
|
rs780826701
|
0.00001
|
NM_006279.5(ST3GAL3):c.547A>G (p.Ile183Val)
|
rs746370446
|
0.00001
|
NM_006279.5(ST3GAL3):c.637G>A (p.Ala213Thr)
|
rs780493101
|
0.00001
|
NM_006279.5(ST3GAL3):c.646C>T (p.Arg216Trp)
|
rs532677391
|
0.00001
|
NM_006279.5(ST3GAL3):c.724A>G (p.Ile242Val)
|
rs753554208
|
0.00001
|
NM_006279.5(ST3GAL3):c.805A>T (p.Ile269Phe)
|
rs1294093559
|
0.00001
|
NM_006279.5(ST3GAL3):c.834G>C (p.Gln278His)
|
rs761308496
|
0.00001
|
NM_006279.5(ST3GAL3):c.850C>T (p.Leu284Phe)
|
rs2082848019
|
0.00001
|
NM_006279.5(ST3GAL3):c.946G>A (p.Glu316Lys)
|
rs770661277
|
0.00001
|
NM_006279.5(ST3GAL3):c.958G>A (p.Ala320Thr)
|
rs1557563410
|
0.00001
|
NM_006279.5(ST3GAL3):c.989A>G (p.Asn330Ser)
|
rs370499935
|
0.00001
|
NM_006279.5(ST3GAL3):c.991G>A (p.Ala331Thr)
|
rs1174973209
|
0.00001
|
NM_006279.5(ST3GAL3):c.995C>G (p.Pro332Arg)
|
rs976240200
|
0.00001
|
NM_020988.3(GNAO1):c.1015G>A (p.Val339Ile)
|
rs2037954591
|
0.00001
|
NM_020988.3(GNAO1):c.187G>A (p.Gly63Arg)
|
rs940833242
|
0.00001
|
NM_020988.3(GNAO1):c.284A>G (p.Tyr95Cys)
|
rs1341492901
|
0.00001
|
NM_020988.3(GNAO1):c.303+4G>A
|
rs1337378182
|
0.00001
|
NM_020988.3(GNAO1):c.303+6C>A
|
rs1555504237
|
0.00001
|
NM_020988.3(GNAO1):c.318G>C (p.Met106Ile)
|
rs978834925
|
0.00001
|
NM_020988.3(GNAO1):c.412C>G (p.Gln138Glu)
|
rs759081912
|
0.00001
|
NM_020988.3(GNAO1):c.413A>G (p.Gln138Arg)
|
rs1245351159
|
0.00001
|
NM_020988.3(GNAO1):c.428G>A (p.Arg143Gln)
|
rs777414554
|
0.00001
|
NM_020988.3(GNAO1):c.465-3C>T
|
rs1596871341
|
0.00001
|
NM_020988.3(GNAO1):c.488T>C (p.Ile163Thr)
|
rs760544764
|
0.00001
|
NM_020988.3(GNAO1):c.746T>C (p.Met249Thr)
|
rs1357923280
|
0.00001
|
NM_020988.3(GNAO1):c.884A>G (p.Asn295Ser)
|
rs371362351
|
0.00001
|
NM_021072.4(HCN1):c.1042G>A (p.Ala348Thr)
|
rs1333872397
|
0.00001
|
NM_021072.4(HCN1):c.1141G>A (p.Val381Ile)
|
rs750838439
|
0.00001
|
NM_021072.4(HCN1):c.1351A>G (p.Asn451Asp)
|
rs945853543
|
0.00001
|
NM_021072.4(HCN1):c.1519G>A (p.Ala507Thr)
|
rs1685224516
|
0.00001
|
NM_021072.4(HCN1):c.158A>C (p.His53Pro)
|
rs1554040137
|
0.00001
|
NM_021072.4(HCN1):c.1655G>C (p.Ser552Thr)
|
rs936848980
|
0.00001
|
NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln)
|
rs769934821
|
0.00001
|
NM_021072.4(HCN1):c.1834G>A (p.Gly612Ser)
|
rs1744776622
|
0.00001
|
NM_021072.4(HCN1):c.2105C>T (p.Ala702Val)
|
rs147007826
|
0.00001
|
NM_021072.4(HCN1):c.239G>A (p.Gly80Asp)
|
rs1252720341
|
0.00001
|
NM_021072.4(HCN1):c.2419A>G (p.Thr807Ala)
|
rs1035068089
|
0.00001
|
NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser)
|
rs780209007
|
0.00001
|
NM_021072.4(HCN1):c.2615C>T (p.Ser872Phe)
|
rs199774910
|
0.00001
|
NM_021072.4(HCN1):c.266G>A (p.Arg89Gln)
|
rs1739997928
|
0.00001
|
NM_021072.4(HCN1):c.303G>A (p.Met101Ile)
|
rs1456742212
|
0.00001
|
NM_021072.4(HCN1):c.678C>G (p.Phe226Leu)
|
rs754468811
|
0.00001
|
NM_021072.4(HCN1):c.703A>G (p.Ile235Val)
|
rs377021158
|
0.00001
|
NM_130811.4(SNAP25):c.404G>A (p.Arg135His)
|
rs1315869651
|
0.00001
|
NM_130811.4(SNAP25):c.92G>A (p.Arg31His)
|
rs1341058084
|
0.00001
|
NM_139318.5(KCNH5):c.1196C>T (p.Pro399Leu)
|
rs1447297190
|
0.00001
|
NM_139318.5(KCNH5):c.1427C>G (p.Ala476Gly)
|
rs922788543
|
0.00001
|
NM_139318.5(KCNH5):c.1465C>T (p.Arg489Trp)
|
rs1346595307
|
0.00001
|
NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser)
|
rs1406117275
|
0.00001
|
NM_139318.5(KCNH5):c.172G>A (p.Val58Ile)
|
rs1057417977
|
0.00001
|
NM_139318.5(KCNH5):c.1886A>T (p.Asn629Ile)
|
rs1204494580
|
0.00001
|
NM_139318.5(KCNH5):c.1931A>G (p.Glu644Gly)
|
rs779052121
|
0.00001
|
NM_139318.5(KCNH5):c.2024T>C (p.Ile675Thr)
|
rs747312358
|
0.00001
|
NM_139318.5(KCNH5):c.2045T>A (p.Val682Glu)
|
rs547160809
|
0.00001
|
NM_139318.5(KCNH5):c.2159G>A (p.Arg720Gln)
|
rs201820912
|
0.00001
|
NM_139318.5(KCNH5):c.2249C>T (p.Thr750Ile)
|
rs1359517285
|
0.00001
|
NM_139318.5(KCNH5):c.2371G>C (p.Asp791His)
|
rs1259994686
|
0.00001
|
NM_139318.5(KCNH5):c.2372A>G (p.Asp791Gly)
|
rs548465461
|
0.00001
|
NM_139318.5(KCNH5):c.2420A>G (p.Asn807Ser)
|
rs770323761
|
0.00001
|
NM_139318.5(KCNH5):c.2488A>G (p.Asn830Asp)
|
rs1445149671
|
0.00001
|
NM_139318.5(KCNH5):c.249A>C (p.Gln83His)
|
rs1051611713
|
0.00001
|
NM_139318.5(KCNH5):c.2686C>T (p.His896Tyr)
|
rs758357872
|
0.00001
|
NM_139318.5(KCNH5):c.2782A>G (p.Met928Val)
|
rs775247224
|
0.00001
|
NM_139318.5(KCNH5):c.2788G>T (p.Ala930Ser)
|
rs202201734
|
0.00001
|
NM_139318.5(KCNH5):c.2837G>A (p.Ser946Asn)
|
rs967009755
|
0.00001
|
NM_139318.5(KCNH5):c.295A>C (p.Lys99Gln)
|
rs780461223
|
0.00001
|
NM_139318.5(KCNH5):c.395C>T (p.Thr132Met)
|
rs765878799
|
0.00001
|
NM_139318.5(KCNH5):c.412A>G (p.Ile138Val)
|
rs934408514
|
0.00001
|
NM_139318.5(KCNH5):c.500C>T (p.Thr167Met)
|
rs771253745
|
0.00001
|
NM_139318.5(KCNH5):c.550G>A (p.Val184Ile)
|
rs752609494
|
0.00001
|
NM_139318.5(KCNH5):c.942+5G>A
|
rs1265529041
|
0.00001
|
NM_139318.5(KCNH5):c.988C>T (p.Arg330Ter)
|
rs767049623
|
0.00001
|
NM_172107.4(KCNQ2):c.1024-3C>T
|
rs2080907472
|
0.00001
|
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser)
|
rs984632499
|
0.00001
|
NM_172107.4(KCNQ2):c.1099G>A (p.Val367Ile)
|
rs149523683
|
0.00001
|
NM_172107.4(KCNQ2):c.1103C>A (p.Thr368Asn)
|
rs900170305
|
0.00001
|
NM_172107.4(KCNQ2):c.1111A>G (p.Met371Val)
|
rs1038643289
|
0.00001
|
NM_172107.4(KCNQ2):c.1118+5C>T
|
rs903746022
|
0.00001
|
NM_172107.4(KCNQ2):c.1138G>A (p.Gly380Arg)
|
rs764614789
|
0.00001
|
NM_172107.4(KCNQ2):c.1210G>A (p.Ala404Thr)
|
rs767250354
|
0.00001
|
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly)
|
rs1240338507
|
0.00001
|
NM_172107.4(KCNQ2):c.1223A>T (p.Asp408Val)
|
rs1202656129
|
0.00001
|
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu)
|
rs752579642
|
0.00001
|
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg)
|
rs746853951
|
0.00001
|
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His)
|
rs758074713
|
0.00001
|
NM_172107.4(KCNQ2):c.1324C>T (p.Arg442Cys)
|
rs1354411692
|
0.00001
|
NM_172107.4(KCNQ2):c.1373C>T (p.Pro458Leu)
|
rs1206195455
|
0.00001
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln)
|
rs1459078042
|
0.00001
|
NM_172107.4(KCNQ2):c.1408G>A (p.Asp470Asn)
|
rs751907059
|
0.00001
|
NM_172107.4(KCNQ2):c.1477C>T (p.Arg493Cys)
|
rs759338332
|
0.00001
|
NM_172107.4(KCNQ2):c.1486T>A (p.Phe496Ile)
|
rs762518963
|
0.00001
|
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys)
|
rs540461827
|
0.00001
|
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His)
|
rs1064797286
|
0.00001
|
NM_172107.4(KCNQ2):c.1504G>A (p.Ala502Thr)
|
rs540103798
|
0.00001
|
NM_172107.4(KCNQ2):c.1511G>A (p.Arg504Gln)
|
rs758575791
|
0.00001
|
NM_172107.4(KCNQ2):c.1526-2dup
|
rs1386754191
|
0.00001
|
NM_172107.4(KCNQ2):c.1526-3C>T
|
rs568408012
|
0.00001
|
NM_172107.4(KCNQ2):c.1540G>A (p.Gly514Arg)
|
rs772669887
|
0.00001
|
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser)
|
rs371162714
|
0.00001
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr)
|
rs1038663676
|
0.00001
|
NM_172107.4(KCNQ2):c.1631+5G>A
|
rs1178354607
|
0.00001
|
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile)
|
rs757608181
|
0.00001
|
NM_172107.4(KCNQ2):c.1640G>A (p.Arg547Gln)
|
rs760984494
|
0.00001
|
NM_172107.4(KCNQ2):c.169C>T (p.Pro57Ser)
|
rs1276943039
|
0.00001
|
NM_172107.4(KCNQ2):c.1777G>A (p.Val593Met)
|
rs372976131
|
0.00001
|
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val)
|
rs746079131
|
0.00001
|
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met)
|
rs1203090297
|
0.00001
|
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys)
|
rs780942181
|
0.00001
|
NM_172107.4(KCNQ2):c.1823C>T (p.Pro608Leu)
|
rs140217688
|
0.00001
|
NM_172107.4(KCNQ2):c.1864C>T (p.Arg622Trp)
|
rs772405187
|
0.00001
|
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)
|
rs771211103
|
0.00001
|
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr)
|
rs777332271
|
0.00001
|
NM_172107.4(KCNQ2):c.1937A>G (p.Gln646Arg)
|
rs766755499
|
0.00001
|
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp)
|
rs773450069
|
0.00001
|
NM_172107.4(KCNQ2):c.1966G>A (p.Glu656Lys)
|
rs545544936
|
0.00001
|
NM_172107.4(KCNQ2):c.1969G>A (p.Ala657Thr)
|
rs780679486
|
0.00001
|
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu)
|
rs765493484
|
0.00001
|
NM_172107.4(KCNQ2):c.2000C>T (p.Ala667Val)
|
rs563291132
|
0.00001
|
NM_172107.4(KCNQ2):c.2029C>T (p.Arg677Trp)
|
rs371851085
|
0.00001
|
NM_172107.4(KCNQ2):c.2068G>A (p.Val690Met)
|
rs373902907
|
0.00001
|
NM_172107.4(KCNQ2):c.2089G>A (p.Gly697Ser)
|
rs1319597206
|
0.00001
|
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu)
|
rs1555850884
|
0.00001
|
NM_172107.4(KCNQ2):c.2108C>T (p.Ala703Val)
|
rs779430808
|
0.00001
|
NM_172107.4(KCNQ2):c.2114C>T (p.Pro705Leu)
|
rs779609892
|
0.00001
|
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp)
|
rs980128101
|
0.00001
|
NM_172107.4(KCNQ2):c.2120C>T (p.Ala707Val)
|
rs753033741
|
0.00001
|
NM_172107.4(KCNQ2):c.2179G>A (p.Gly727Ser)
|
rs368549458
|
0.00001
|
NM_172107.4(KCNQ2):c.2188A>G (p.Thr730Ala)
|
rs1441250745
|
0.00001
|
NM_172107.4(KCNQ2):c.2194C>T (p.Pro732Ser)
|
rs749597397
|
0.00001
|
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser)
|
rs755013341
|
0.00001
|
NM_172107.4(KCNQ2):c.2228C>T (p.Pro743Leu)
|
rs757187432
|
0.00001
|
NM_172107.4(KCNQ2):c.2240C>T (p.Ala747Val)
|
rs1244838198
|
0.00001
|
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys)
|
rs1449467609
|
0.00001
|
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His)
|
rs758530960
|
0.00001
|
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser)
|
rs769045070
|
0.00001
|
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln)
|
rs752551225
|
0.00001
|
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser)
|
rs748400155
|
0.00001
|
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys)
|
rs1264858438
|
0.00001
|
NM_172107.4(KCNQ2):c.2344C>T (p.Arg782Trp)
|
rs745990385
|
0.00001
|
NM_172107.4(KCNQ2):c.2345G>A (p.Arg782Gln)
|
rs756083804
|
0.00001
|
NM_172107.4(KCNQ2):c.2445T>G (p.Asp815Glu)
|
rs371844101
|
0.00001
|
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr)
|
rs751425807
|
0.00001
|
NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val)
|
rs796052661
|
0.00001
|
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val)
|
rs754310883
|
0.00001
|
NM_172107.4(KCNQ2):c.2536T>C (p.Cys846Arg)
|
rs2079947062
|
0.00001
|
NM_172107.4(KCNQ2):c.2548G>A (p.Gly850Arg)
|
rs779986547
|
0.00001
|
NM_172107.4(KCNQ2):c.2555C>T (p.Pro852Leu)
|
rs745508762
|
0.00001
|
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)
|
rs12481082
|
0.00001
|
NM_172107.4(KCNQ2):c.2611A>G (p.Arg871Gly)
|
rs1006613253
|
0.00001
|
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met)
|
rs749164961
|
0.00001
|
NM_172107.4(KCNQ2):c.351G>T (p.Glu117Asp)
|
rs1215026765
|
0.00001
|
NM_172107.4(KCNQ2):c.415G>A (p.Val139Met)
|
rs773083197
|
0.00001
|
NM_172107.4(KCNQ2):c.529A>G (p.Ile177Val)
|
rs542553752
|
0.00001
|
NM_172107.4(KCNQ2):c.58C>G (p.Leu20Val)
|
rs868492349
|
0.00001
|
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val)
|
rs747050726
|
0.00001
|
NM_172107.4(KCNQ2):c.77G>A (p.Gly26Glu)
|
rs1447528231
|
0.00001
|
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu)
|
rs868642147
|
0.00001
|
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)
|
rs915805727
|
0.00001
|
NM_173728.4(ARHGEF15):c.1036C>T (p.Pro346Ser)
|
rs778272365
|
0.00001
|
NM_173728.4(ARHGEF15):c.1070G>A (p.Arg357Gln)
|
rs1904918630
|
0.00001
|
NM_173728.4(ARHGEF15):c.1097G>C (p.Trp366Ser)
|
rs776495574
|
0.00001
|
NM_173728.4(ARHGEF15):c.1133A>G (p.Asn378Ser)
|
rs1904924776
|
0.00001
|
NM_173728.4(ARHGEF15):c.1166C>T (p.Pro389Leu)
|
rs1377059025
|
0.00001
|
NM_173728.4(ARHGEF15):c.1169G>A (p.Gly390Glu)
|
rs370992708
|
0.00001
|
NM_173728.4(ARHGEF15):c.1219C>A (p.Leu407Ile)
|
rs757694556
|
0.00001
|
NM_173728.4(ARHGEF15):c.1247G>A (p.Arg416Lys)
|
rs750752026
|
0.00001
|
NM_173728.4(ARHGEF15):c.1249C>A (p.Arg417Ser)
|
rs376034940
|
0.00001
|
NM_173728.4(ARHGEF15):c.1261-2A>G
|
rs745677322
|
0.00001
|
NM_173728.4(ARHGEF15):c.1338C>A (p.Ser446Arg)
|
rs1051815618
|
0.00001
|
NM_173728.4(ARHGEF15):c.1366C>T (p.Arg456Cys)
|
rs757084863
|
0.00001
|
NM_173728.4(ARHGEF15):c.1420C>T (p.Arg474Trp)
|
rs562206017
|
0.00001
|
NM_173728.4(ARHGEF15):c.142C>T (p.Arg48Ter)
|
rs938835951
|
0.00001
|
NM_173728.4(ARHGEF15):c.143G>A (p.Arg48Gln)
|
rs761325531
|
0.00001
|
NM_173728.4(ARHGEF15):c.1505G>A (p.Gly502Glu)
|
rs766320878
|
0.00001
|
NM_173728.4(ARHGEF15):c.1553A>T (p.Glu518Val)
|
rs754271609
|
0.00001
|
NM_173728.4(ARHGEF15):c.1559C>G (p.Thr520Ser)
|
rs199645465
|
0.00001
|
NM_173728.4(ARHGEF15):c.1583A>G (p.Asn528Ser)
|
rs747489507
|
0.00001
|
NM_173728.4(ARHGEF15):c.1642C>T (p.Pro548Ser)
|
rs367836441
|
0.00001
|
NM_173728.4(ARHGEF15):c.1675C>G (p.Arg559Gly)
|
rs758564151
|
0.00001
|
NM_173728.4(ARHGEF15):c.1721C>G (p.Thr574Arg)
|
rs768707221
|
0.00001
|
NM_173728.4(ARHGEF15):c.1738C>T (p.Arg580Cys)
|
rs774391825
|
0.00001
|
NM_173728.4(ARHGEF15):c.1755G>C (p.Gln585His)
|
rs1280630665
|
0.00001
|
NM_173728.4(ARHGEF15):c.1811G>A (p.Arg604His)
|
rs143720339
|
0.00001
|
NM_173728.4(ARHGEF15):c.1872+5A>G
|
rs879552088
|
0.00001
|
NM_173728.4(ARHGEF15):c.1939C>T (p.Arg647Trp)
|
rs917738800
|
0.00001
|
NM_173728.4(ARHGEF15):c.194C>T (p.Pro65Leu)
|
rs747885678
|
0.00001
|
NM_173728.4(ARHGEF15):c.2123G>A (p.Arg708His)
|
rs759419450
|
0.00001
|
NM_173728.4(ARHGEF15):c.2143C>T (p.His715Tyr)
|
rs767354061
|
0.00001
|
NM_173728.4(ARHGEF15):c.214C>T (p.Pro72Ser)
|
rs774598794
|
0.00001
|
NM_173728.4(ARHGEF15):c.2185C>T (p.Leu729=)
|
rs766931220
|
0.00001
|
NM_173728.4(ARHGEF15):c.2186T>C (p.Leu729Pro)
|
rs1905217127
|
0.00001
|
NM_173728.4(ARHGEF15):c.2201G>A (p.Arg734His)
|
rs775473270
|
0.00001
|
NM_173728.4(ARHGEF15):c.2288G>A (p.Cys763Tyr)
|
rs149290543
|
0.00001
|
NM_173728.4(ARHGEF15):c.232C>T (p.Pro78Ser)
|
rs1200503544
|
0.00001
|
NM_173728.4(ARHGEF15):c.2345C>T (p.Ala782Val)
|
rs1343847865
|
0.00001
|
NM_173728.4(ARHGEF15):c.2351A>G (p.Lys784Arg)
|
rs1401828336
|
0.00001
|
NM_173728.4(ARHGEF15):c.2411A>G (p.Gln804Arg)
|
rs1279498244
|
0.00001
|
NM_173728.4(ARHGEF15):c.2438A>C (p.His813Pro)
|
rs888001312
|
0.00001
|
NM_173728.4(ARHGEF15):c.32C>T (p.Pro11Leu)
|
rs753043864
|
0.00001
|
NM_173728.4(ARHGEF15):c.343C>T (p.Arg115Trp)
|
rs773380012
|
0.00001
|
NM_173728.4(ARHGEF15):c.344G>A (p.Arg115Gln)
|
rs763386020
|
0.00001
|
NM_173728.4(ARHGEF15):c.34C>G (p.Pro12Ala)
|
rs150480540
|
0.00001
|
NM_173728.4(ARHGEF15):c.420del (p.Asn141fs)
|
rs761174975
|
0.00001
|
NM_173728.4(ARHGEF15):c.478G>A (p.Gly160Ser)
|
rs755181959
|
0.00001
|
NM_173728.4(ARHGEF15):c.490C>T (p.Arg164Trp)
|
rs1031646825
|
0.00001
|
NM_173728.4(ARHGEF15):c.509C>T (p.Ala170Val)
|
rs1440687858
|
0.00001
|
NM_173728.4(ARHGEF15):c.53G>A (p.Arg18Gln)
|
rs773399469
|
0.00001
|
NM_173728.4(ARHGEF15):c.563C>A (p.Pro188His)
|
rs142622501
|
0.00001
|
NM_173728.4(ARHGEF15):c.575G>T (p.Ser192Ile)
|
rs200099841
|
0.00001
|
NM_173728.4(ARHGEF15):c.601+11C>T
|
rs746728875
|
0.00001
|
NM_173728.4(ARHGEF15):c.660C>T (p.Gly220=)
|
rs1060500047
|
0.00001
|
NM_173728.4(ARHGEF15):c.715C>T (p.Arg239Cys)
|
rs200249246
|
0.00001
|
NM_173728.4(ARHGEF15):c.73C>T (p.Pro25Ser)
|
rs757041347
|
0.00001
|
NM_173728.4(ARHGEF15):c.748C>T (p.Arg250Cys)
|
rs756569021
|
0.00001
|
NM_173728.4(ARHGEF15):c.769G>A (p.Gly257Ser)
|
rs758268978
|
0.00001
|
NM_173728.4(ARHGEF15):c.793T>G (p.Ser265Ala)
|
rs1475346467
|
0.00001
|
NM_173728.4(ARHGEF15):c.814C>T (p.Arg272Cys)
|
rs149554572
|
0.00001
|
NM_173728.4(ARHGEF15):c.839C>G (p.Pro280Arg)
|
rs754752504
|
0.00001
|
NM_173728.4(ARHGEF15):c.865G>A (p.Asp289Asn)
|
rs114472686
|
0.00001
|
NM_173728.4(ARHGEF15):c.868G>A (p.Ala290Thr)
|
rs199835687
|
0.00001
|
NM_173728.4(ARHGEF15):c.886C>T (p.Pro296Ser)
|
rs765929597
|
0.00001
|
NM_173728.4(ARHGEF15):c.937G>A (p.Asp313Asn)
|
rs750671470
|
0.00001
|
NM_173728.4(ARHGEF15):c.952G>T (p.Ala318Ser)
|
rs755121072
|
0.00001
|
NM_173728.4(ARHGEF15):c.985G>C (p.Gly329Arg)
|
rs1370581711
|
0.00001
|
NM_173728.4(ARHGEF15):c.989+5T>C
|
rs773497449
|
0.00001
|
NC_000001.10:g.(?_44201934)_(44257840_?)dup
|
|
|
NC_000001.10:g.(?_44257753)_(44257840_?)del
|
|
|
NC_000001.10:g.(?_44257753)_(46663493_?)dup
|
|
|
NC_000001.10:g.(?_44360035)_(44482805_?)dup
|
|
|
NC_000002.11:g.(?_165946660)_(166894662_?)dup
|
|
|
NC_000002.11:g.(?_165946660)_(166898954_?)dup
|
|
|
NC_000002.11:g.(?_166152314)_(167108415_?)dup
|
|
|
NC_000002.11:g.(?_166856213)_(166868812_?)dup
|
|
|
NC_000002.11:g.(?_166897721)_(167163604_?)dup
|
|
|
NC_000002.11:g.(?_166929868)_(167056374_?)dup
|
|
|
NC_000002.12:g.(?_165090130)_(166311776_?)dup
|
|
|
NC_000002.12:g.(?_165112865)_(166311776_?)dup
|
|
|
NC_000002.12:g.(?_165295804)_(166311776_?)dup
|
|
|
NC_000002.12:g.(?_166036028)_(166039616_?)dup
|
|
|
NC_000003.11:g.(?_50378802)_(50471880_?)del
|
|
|
NC_000003.11:g.(?_50431530)_(50431609_?)del
|
|
|
NC_000003.11:g.(?_50513529)_(50540854_?)dup
|
|
|
NC_000005.10:g.(?_45261901)_(45696113_?)dup
|
|
|
NC_000005.10:g.(?_45261921)_(45303839_?)del
|
|
|
NC_000005.10:g.(?_45353080)_(45696113_?)dup
|
|
|
NC_000005.10:g.(?_45645165)_(45645628_?)dup
|
|
|
NC_000005.10:g.(?_45645165)_(45696113_?)dup
|
|
|
NC_000005.10:g.(?_45695649)_(45696113_?)dup
|
|
|
NC_000005.10:g.45461997_45462008del
|
rs2111627345
|
|
NC_000005.9:g.(?_44305097)_(45696195_?)dup
|
|
|
NC_000005.9:g.(?_45262023)_(45267375_?)del
|
|
|
NC_000005.9:g.(?_45262023)_(45645730_?)dup
|
|
|
NC_000005.9:g.(?_45262023)_(45696195_?)dup
|
|
|
NC_000005.9:g.(?_45267171)_(45696195_?)dup
|
|
|
NC_000005.9:g.(?_45267171)_(45696215_?)dup
|
|
|
NC_000005.9:g.(?_45267181)_(45696195_?)dup
|
|
|
NC_000005.9:g.(?_45396574)_(45696215_?)dup
|
|
|
NC_000005.9:g.(?_45396584)_(45696195_?)dup
|
|
|
NC_000005.9:g.(?_45695973)_(45696385_?)del
|
|
|
NC_000009.11:g.(?_130415988)_(130432243_?)dup
|
|
|
NC_000009.11:g.(?_131353736)_(131356672_?)dup
|
|
|
NC_000009.11:g.(?_131362339)_(131362414_?)del
|
|
|
NC_000009.11:g.(?_131389645)_(131398737_?)del
|
|
|
NC_000011.10:g.(?_532616)_(795026_?)dup
|
|
|
NC_000011.9:g.(?_298501)_(4113028_?)dup
|
|
|
NC_000011.9:g.(?_644550)_(795006_?)dup
|
|
|
NC_000012.12:g.(?_51780629)_(51780791_?)del
|
|
|
NC_000014.8:g.(?_63174206)_(63269319_?)del
|
|
|
NC_000014.8:g.(?_63511812)_(63511904_?)dup
|
|
|
NC_000014.8:g.(?_63511812)_(63511924_?)dup
|
|
|
NC_000016.9:g.(?_56226148)_(56310004_?)dup
|
|
|
NC_000017.10:g.(?_8212556)_(8226834_?)dup
|
|
|
NC_000017.10:g.(?_8215338)_(8224331_?)dup
|
|
|
NC_000017.10:g.(?_8221685)_(8224311_?)dup
|
|
|
NC_000017.10:g.(?_8224140)_(8224311_?)del
|
|
|
NC_000020.10:g.(?_60831241)_(62664346_?)dup
|
|
|
NC_000020.10:g.(?_60831241)_(62680869_?)dup
|
|
|
NC_000020.10:g.(?_61978090)_(62046499_?)dup
|
|
|
NC_000020.10:g.(?_61978090)_(62059808_?)dup
|
|
|
NC_000020.10:g.(?_61990880)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_62037637)_(62038459_?)del
|
|
|
NC_000020.10:g.(?_62044783)_(62103816_?)dup
|
|
|
NC_000020.10:g.(?_62050952)_(62051045_?)del
|
|
|
NC_000020.10:g.(?_62050962)_(62078200_?)dup
|
|
|
NC_000020.10:g.(?_62059700)_(62078210_?)dup
|
|
|
NC_000020.10:g.(?_62070931)_(62073904_?)dup
|
|
|
NC_000020.10:g.(?_62073739)_(62129136_?)dup
|
|
|
NC_000020.11:g.(?_63424157)_(63446857_?)dup
|
|
|
NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)
|
rs1560442716
|
|
NM_001032221.6(STXBP1):c.100G>A (p.Asp34Asn)
|
|
|
NM_001032221.6(STXBP1):c.1029+3A>G
|
|
|
NM_001032221.6(STXBP1):c.1048C>T (p.Leu350Phe)
|
rs2131501109
|
|
NM_001032221.6(STXBP1):c.1070A>C (p.His357Pro)
|
|
|
NM_001032221.6(STXBP1):c.1093C>G (p.Leu365Val)
|
|
|
NM_001032221.6(STXBP1):c.1107G>T (p.Glu369Asp)
|
|
|
NM_001032221.6(STXBP1):c.1109A>G (p.Gln370Arg)
|
|
|
NM_001032221.6(STXBP1):c.1110+5G>A
|
|
|
NM_001032221.6(STXBP1):c.1111-3T>A
|
|
|
NM_001032221.6(STXBP1):c.1111G>T (p.Asp371Tyr)
|
|
|
NM_001032221.6(STXBP1):c.1115T>C (p.Leu372Pro)
|
|
|
NM_001032221.6(STXBP1):c.1118_1123del (p.Ala373_Met374del)
|
rs2131509733
|
|
NM_001032221.6(STXBP1):c.1121_1126del (p.Met374_Gly375del)
|
rs2131509749
|
|
NM_001032221.6(STXBP1):c.1124G>T (p.Gly375Val)
|
|
|
NM_001032221.6(STXBP1):c.113T>C (p.Met38Thr)
|
rs538684549
|
|
NM_001032221.6(STXBP1):c.1159A>G (p.Met387Val)
|
|
|
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val)
|
rs1554778420
|
|
NM_001032221.6(STXBP1):c.117G>T (p.Arg39Ser)
|
rs2132444493
|
|
NM_001032221.6(STXBP1):c.1193A>G (p.Asn398Ser)
|
rs750585484
|
|
NM_001032221.6(STXBP1):c.119T>A (p.Met40Lys)
|
rs1840654963
|
|
NM_001032221.6(STXBP1):c.1219A>C (p.Ile407Leu)
|
|
|
NM_001032221.6(STXBP1):c.1241T>C (p.Leu414Ser)
|
rs1286774865
|
|
NM_001032221.6(STXBP1):c.1306G>A (p.Asp436Asn)
|
rs149691747
|
|
NM_001032221.6(STXBP1):c.1310G>A (p.Ser437Asn)
|
rs1841769481
|
|
NM_001032221.6(STXBP1):c.1325A>G (p.Asn442Ser)
|
rs1564354895
|
|
NM_001032221.6(STXBP1):c.1328T>A (p.Met443Lys)
|
|
|
NM_001032221.6(STXBP1):c.1339G>A (p.Gly447Ser)
|
|
|
NM_001032221.6(STXBP1):c.1342G>A (p.Val448Met)
|
|
|
NM_001032221.6(STXBP1):c.1345C>G (p.Pro449Ala)
|
|
|
NM_001032221.6(STXBP1):c.1349T>C (p.Ile450Thr)
|
rs1554778503
|
|
NM_001032221.6(STXBP1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_001032221.6(STXBP1):c.1388A>G (p.Glu463Gly)
|
rs2131521876
|
|
NM_001032221.6(STXBP1):c.13G>T (p.Gly5Cys)
|
|
|
NM_001032221.6(STXBP1):c.1400G>T (p.Arg467Leu)
|
|
|
NM_001032221.6(STXBP1):c.1405A>T (p.Ser469Cys)
|
rs2131522070
|
|
NM_001032221.6(STXBP1):c.1424_1425delinsAA (p.Leu475Gln)
|
|
|
NM_001032221.6(STXBP1):c.1430G>A (p.Arg477Gln)
|
rs2131522253
|
|
NM_001032221.6(STXBP1):c.1444A>C (p.Ile482Leu)
|
|
|
NM_001032221.6(STXBP1):c.1453A>G (p.Ile485Val)
|
|
|
NM_001032221.6(STXBP1):c.1461G>T (p.Glu487Asp)
|
|
|
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe)
|
rs1554778810
|
|
NM_001032221.6(STXBP1):c.1502A>T (p.Tyr501Phe)
|
rs2131528449
|
|
NM_001032221.6(STXBP1):c.1532G>C (p.Ser511Thr)
|
|
|
NM_001032221.6(STXBP1):c.1540G>A (p.Ala514Thr)
|
rs1333091651
|
|
NM_001032221.6(STXBP1):c.1553G>A (p.Arg518His)
|
|
|
NM_001032221.6(STXBP1):c.157G>C (p.Glu53Gln)
|
|
|
NM_001032221.6(STXBP1):c.1595G>A (p.Arg532His)
|
rs890000182
|
|
NM_001032221.6(STXBP1):c.1642A>C (p.Asn548His)
|
|
|
NM_001032221.6(STXBP1):c.1649T>A (p.Met550Lys)
|
rs2131536008
|
|
NM_001032221.6(STXBP1):c.1657G>A (p.Ala553Thr)
|
|
|
NM_001032221.6(STXBP1):c.1669A>C (p.Thr557Pro)
|
rs1842047674
|
|
NM_001032221.6(STXBP1):c.1673A>C (p.Gln558Pro)
|
|
|
NM_001032221.6(STXBP1):c.1681G>A (p.Gly561Arg)
|
rs369960553
|
|
NM_001032221.6(STXBP1):c.169+5G>C
|
|
|
NM_001032221.6(STXBP1):c.1696C>A (p.Leu566Met)
|
rs2131536412
|
|
NM_001032221.6(STXBP1):c.1697T>C (p.Leu566Pro)
|
rs2131536431
|
|
NM_001032221.6(STXBP1):c.1700T>C (p.Ile567Thr)
|
rs1842049650
|
|
NM_001032221.6(STXBP1):c.19A>G (p.Lys7Glu)
|
rs2132275587
|
|
NM_001032221.6(STXBP1):c.200C>T (p.Pro67Leu)
|
|
|
NM_001032221.6(STXBP1):c.230T>C (p.Ile77Thr)
|
|
|
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro)
|
rs1840867221
|
|
NM_001032221.6(STXBP1):c.247-17T>A
|
|
|
NM_001032221.6(STXBP1):c.247-20_247-14del
|
|
|
NM_001032221.6(STXBP1):c.248C>T (p.Ser83Phe)
|
rs2131450396
|
|
NM_001032221.6(STXBP1):c.256T>C (p.Ser86Pro)
|
|
|
NM_001032221.6(STXBP1):c.259C>G (p.Leu87Val)
|
rs1564349480
|
|
NM_001032221.6(STXBP1):c.284C>T (p.Pro95Leu)
|
|
|
NM_001032221.6(STXBP1):c.294A>C (p.Lys98Asn)
|
|
|
NM_001032221.6(STXBP1):c.29_31del (p.Val10del)
|
rs1564333764
|
|
NM_001032221.6(STXBP1):c.313TTC[1] (p.Phe106del)
|
rs1840975645
|
|
NM_001032221.6(STXBP1):c.316T>G (p.Phe106Val)
|
rs2131451036
|
|
NM_001032221.6(STXBP1):c.334G>C (p.Asp112His)
|
rs1841023284
|
|
NM_001032221.6(STXBP1):c.337G>A (p.Ala113Thr)
|
|
|
NM_001032221.6(STXBP1):c.338C>A (p.Ala113Asp)
|
rs1841023635
|
|
NM_001032221.6(STXBP1):c.353T>C (p.Leu118Pro)
|
rs1841024997
|
|
NM_001032221.6(STXBP1):c.364C>G (p.Arg122Gly)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.368C>A (p.Ala123Glu)
|
|
|
NM_001032221.6(STXBP1):c.377T>G (p.Val126Gly)
|
|
|
NM_001032221.6(STXBP1):c.379A>G (p.Ile127Val)
|
rs1841026859
|
|
NM_001032221.6(STXBP1):c.424T>C (p.Ser142Pro)
|
|
|
NM_001032221.6(STXBP1):c.430-20A>G
|
|
|
NM_001032221.6(STXBP1):c.436T>C (p.Ser146Pro)
|
rs1841132069
|
|
NM_001032221.6(STXBP1):c.446C>A (p.Ser149Tyr)
|
rs903312718
|
|
NM_001032221.6(STXBP1):c.45G>A (p.Met15Ile)
|
|
|
NM_001032221.6(STXBP1):c.46C>T (p.His16Tyr)
|
|
|
NM_001032221.6(STXBP1):c.475C>A (p.Pro159Thr)
|
|
|
NM_001032221.6(STXBP1):c.478C>T (p.His160Tyr)
|
|
|
NM_001032221.6(STXBP1):c.488A>G (p.Gln163Arg)
|
|
|
NM_001032221.6(STXBP1):c.494A>G (p.Lys165Arg)
|
rs1841135927
|
|
NM_001032221.6(STXBP1):c.496A>G (p.Asn166Asp)
|
|
|
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)
|
rs1841136116
|
|
NM_001032221.6(STXBP1):c.51T>A (p.Asp17Glu)
|
|
|
NM_001032221.6(STXBP1):c.525G>T (p.Gln175His)
|
rs2131462838
|
|
NM_001032221.6(STXBP1):c.526A>T (p.Ile176Phe)
|
rs2131462854
|
|
NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro)
|
rs794727859
|
|
NM_001032221.6(STXBP1):c.562G>C (p.Ala188Pro)
|
|
|
NM_001032221.6(STXBP1):c.578+6G>A
|
|
|
NM_001032221.6(STXBP1):c.578+7C>T
|
|
|
NM_001032221.6(STXBP1):c.58AAG[1] (p.Lys21del)
|
rs1840555368
|
|
NM_001032221.6(STXBP1):c.593A>G (p.Asn198Ser)
|
|
|
NM_001032221.6(STXBP1):c.595G>A (p.Ala199Thr)
|
rs1841235707
|
|
NM_001032221.6(STXBP1):c.5C>T (p.Ala2Val)
|
rs1838427784
|
|
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val)
|
rs1841236507
|
|
NM_001032221.6(STXBP1):c.628G>A (p.Asp210Asn)
|
rs1348662627
|
|
NM_001032221.6(STXBP1):c.655A>G (p.Met219Val)
|
|
|
NM_001032221.6(STXBP1):c.65_76del (p.Val22_Lys25del)
|
rs1840555501
|
|
NM_001032221.6(STXBP1):c.663+5G>T
|
|
|
NM_001032221.6(STXBP1):c.683C>T (p.Ser228Phe)
|
rs1554777469
|
|
NM_001032221.6(STXBP1):c.692T>C (p.Leu231Pro)
|
|
|
NM_001032221.6(STXBP1):c.725_726insGGG (p.Pro242_Val243insGly)
|
rs2131472724
|
|
NM_001032221.6(STXBP1):c.735T>A (p.His245Gln)
|
|
|
NM_001032221.6(STXBP1):c.746T>C (p.Phe249Ser)
|
|
|
NM_001032221.6(STXBP1):c.758G>A (p.Ser253Asn)
|
rs1588319727
|
|
NM_001032221.6(STXBP1):c.75G>T (p.Lys25Asn)
|
|
|
NM_001032221.6(STXBP1):c.794+4_794+7del
|
rs1841291870
|
|
NM_001032221.6(STXBP1):c.830A>G (p.Lys277Arg)
|
|
|
NM_001032221.6(STXBP1):c.850G>A (p.Asp284Asn)
|
|
|
NM_001032221.6(STXBP1):c.863G>T (p.Trp288Leu)
|
rs1564352031
|
|
NM_001032221.6(STXBP1):c.87+7A>G
|
|
|
NM_001032221.6(STXBP1):c.88-16_88-5del
|
rs1840652151
|
|
NM_001032221.6(STXBP1):c.88-3C>T
|
rs1840652995
|
|
NM_001032221.6(STXBP1):c.889G>A (p.Ala297Thr)
|
rs1064794322
|
|
NM_001032221.6(STXBP1):c.8C>T (p.Pro3Leu)
|
|
|
NM_001032221.6(STXBP1):c.902+6del
|
|
|
NM_001032221.6(STXBP1):c.902A>T (p.Gln301Leu)
|
rs1841388153
|
|
NM_001032221.6(STXBP1):c.903-12T>G
|
|
|
NM_001032221.6(STXBP1):c.935C>G (p.Ser312Cys)
|
|
|
NM_001032221.6(STXBP1):c.963G>A (p.Lys321=)
|
rs1554777932
|
|
NM_001032221.6(STXBP1):c.964A>G (p.Thr322Ala)
|
|
|
NM_001032221.6(STXBP1):c.973C>T (p.Arg325Trp)
|
|
|
NM_001032221.6(STXBP1):c.977A>T (p.Asp326Val)
|
|
|
NM_001032221.6(STXBP1):c.982T>A (p.Ser328Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1000G>A (p.Val334Met)
|
|
|
NM_001130438.3(SPTAN1):c.1035G>T (p.Gln345His)
|
rs2131015592
|
|
NM_001130438.3(SPTAN1):c.1039C>G (p.Arg347Gly)
|
rs754066930
|
|
NM_001130438.3(SPTAN1):c.1040G>T (p.Arg347Leu)
|
|
|
NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1063G>A (p.Ala355Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1063G>T (p.Ala355Ser)
|
rs988012905
|
|
NM_001130438.3(SPTAN1):c.1064C>T (p.Ala355Val)
|
rs1851436689
|
|
NM_001130438.3(SPTAN1):c.1076A>G (p.Asp359Gly)
|
rs748881611
|
|
NM_001130438.3(SPTAN1):c.1085+6A>C
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1085+6A>G
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1086G>A (p.Arg362=)
|
|
|
NM_001130438.3(SPTAN1):c.1087C>G (p.Leu363Val)
|
|
|
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
|
rs372157740
|
|
NM_001130438.3(SPTAN1):c.1094G>A (p.Arg365His)
|
|
|
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser)
|
rs942915357
|
|
NM_001130438.3(SPTAN1):c.1099C>T (p.Leu367Phe)
|
rs1851517179
|
|
NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys)
|
rs751473819
|
|
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
|
|
|
NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His)
|
rs1325381089
|
|
NM_001130438.3(SPTAN1):c.1121C>A (p.Thr374Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1142A>G (p.Lys381Arg)
|
rs2131029556
|
|
NM_001130438.3(SPTAN1):c.1172G>A (p.Ser391Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1180G>T (p.Ala394Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
|
rs1589192271
|
|
NM_001130438.3(SPTAN1):c.1217A>G (p.His406Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1221+11C>G
|
rs113357847
|
|
NM_001130438.3(SPTAN1):c.1256C>T (p.Ser419Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1298A>G (p.Tyr433Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
|
|
|
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
|
|
|
NM_001130438.3(SPTAN1):c.1323+3A>T
|
|
|
NM_001130438.3(SPTAN1):c.1328C>G (p.Thr443Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1330G>C (p.Val444Leu)
|
rs77358650
|
|
NM_001130438.3(SPTAN1):c.1349C>T (p.Ala450Val)
|
|
|
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val)
|
rs149336930
|
|
NM_001130438.3(SPTAN1):c.1378A>G (p.Arg460Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1384C>A (p.Gln462Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1390G>A (p.Glu464Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1411C>G (p.Leu471Val)
|
|
|
NM_001130438.3(SPTAN1):c.1421G>A (p.Arg474Gln)
|
rs2131089805
|
|
NM_001130438.3(SPTAN1):c.1440C>T (p.Asp480=)
|
|
|
NM_001130438.3(SPTAN1):c.1451G>A (p.Ser484Asn)
|
rs1851879535
|
|
NM_001130438.3(SPTAN1):c.1461+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.1461+4A>G
|
rs1851880743
|
|
NM_001130438.3(SPTAN1):c.1462-11C>T
|
|
|
NM_001130438.3(SPTAN1):c.1462-13T>G
|
|
|
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val)
|
rs1851980146
|
|
NM_001130438.3(SPTAN1):c.1473G>C (p.Leu491Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1492T>C (p.Ser498Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1519AAG[1] (p.Lys508del)
|
rs2131108444
|
|
NM_001130438.3(SPTAN1):c.1524G>C (p.Lys508Asn)
|
rs2131108546
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.1552G>A (p.Ala518Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1572+5G>C
|
rs1851989537
|
|
NM_001130438.3(SPTAN1):c.1589C>G (p.Ala530Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1637C>T (p.Thr546Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1639C>T (p.Arg547Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1640G>A (p.Arg547His)
|
rs1277192295
|
|
NM_001130438.3(SPTAN1):c.1649C>T (p.Ala550Val)
|
rs1297146654
|
|
NM_001130438.3(SPTAN1):c.1650+8del
|
|
|
NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)
|
|
|
NM_001130438.3(SPTAN1):c.1651C>T (p.Leu551=)
|
|
|
NM_001130438.3(SPTAN1):c.1655T>G (p.Leu552Trp)
|
rs1852093848
|
|
NM_001130438.3(SPTAN1):c.1656G>C (p.Leu552Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1661G>A (p.Arg554His)
|
|
|
NM_001130438.3(SPTAN1):c.1663C>T (p.Arg555Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1678G>A (p.Glu560Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1694G>A (p.Arg565His)
|
|
|
NM_001130438.3(SPTAN1):c.1711G>A (p.Asp571Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1718T>G (p.Phe573Cys)
|
rs1852105472
|
|
NM_001130438.3(SPTAN1):c.1719C>A (p.Phe573Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1741G>A (p.Asp581Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1765G>C (p.Val589Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1779G>A (p.Met593Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1798G>A (p.Ala600Thr)
|
rs2131131343
|
|
NM_001130438.3(SPTAN1):c.1807-3C>T
|
rs571532593
|
|
NM_001130438.3(SPTAN1):c.1856C>A (p.Ala619Asp)
|
rs772608327
|
|
NM_001130438.3(SPTAN1):c.1864T>C (p.Ser622Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1868C>G (p.Ala623Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1895A>G (p.Glu632Gly)
|
|
|
NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe)
|
rs1589149870
|
|
NM_001130438.3(SPTAN1):c.1927C>T (p.His643Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.1945G>A (p.Val649Met)
|
|
|
NM_001130438.3(SPTAN1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1972A>G (p.Ser658Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2028A>C (p.Glu676Asp)
|
rs2131150901
|
|
NM_001130438.3(SPTAN1):c.2053C>T (p.Arg685Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2054G>A (p.Arg685His)
|
|
|
NM_001130438.3(SPTAN1):c.2065G>A (p.Asp689Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2069T>C (p.Ile690Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2087_2089del (p.Glu696del)
|
rs2131151927
|
|
NM_001130438.3(SPTAN1):c.2089G>A (p.Val697Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2114A>G (p.Asp705Gly)
|
rs2131152396
|
|
NM_001130438.3(SPTAN1):c.2132C>T (p.Thr711Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2135A>G (p.Asn712Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2154G>T (p.Lys718Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2193+5T>C
|
|
|
NM_001130438.3(SPTAN1):c.2193+6G>A
|
rs751573290
|
|
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn)
|
rs2131160403
|
|
NM_001130438.3(SPTAN1):c.2197C>A (p.Arg733=)
|
|
|
NM_001130438.3(SPTAN1):c.2204A>C (p.Asp735Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2204A>G (p.Asp735Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2206G>A (p.Gly736Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2238T>A (p.Asp746Glu)
|
|
|
NM_001130438.3(SPTAN1):c.2263A>G (p.Ile755Val)
|
rs1852306066
|
|
NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile)
|
rs1850104282
|
|
NM_001130438.3(SPTAN1):c.2281G>C (p.Ala761Pro)
|
|
|
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val)
|
rs770359554
|
|
NM_001130438.3(SPTAN1):c.2294G>A (p.Arg765His)
|
|
|
NM_001130438.3(SPTAN1):c.2297A>G (p.Tyr766Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2309A>G (p.Lys770Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2330A>G (p.Lys777Arg)
|
rs2131163322
|
|
NM_001130438.3(SPTAN1):c.2341G>A (p.Ala781Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2348C>A (p.Ser783Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp)
|
rs1253697977
|
|
NM_001130438.3(SPTAN1):c.2357T>C (p.Leu786Ser)
|
|
|
NM_001130438.3(SPTAN1):c.238-8G>T
|
|
|
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)
|
rs774283264
|
|
NM_001130438.3(SPTAN1):c.2412G>C (p.Glu804Asp)
|
rs767815914
|
|
NM_001130438.3(SPTAN1):c.2428A>G (p.Thr810Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2432A>G (p.Asn811Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2437+18A>T
|
|
|
NM_001130438.3(SPTAN1):c.2437+5G>A
|
|
|
NM_001130438.3(SPTAN1):c.2483C>T (p.Ala828Val)
|
|
|
NM_001130438.3(SPTAN1):c.2515C>T (p.Arg839Cys)
|
rs999623213
|
|
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
|
rs779633188
|
|
NM_001130438.3(SPTAN1):c.2521A>G (p.Lys841Glu)
|
rs2131170781
|
|
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg)
|
rs1564229501
|
|
NM_001130438.3(SPTAN1):c.2548A>G (p.Met850Val)
|
rs371776794
|
|
NM_001130438.3(SPTAN1):c.2563C>T (p.His855Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2581G>A (p.Val861Met)
|
|
|
NM_001130438.3(SPTAN1):c.2591A>G (p.Lys864Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2606A>G (p.Asn869Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2619G>T (p.Glu873Asp)
|
rs1288231452
|
|
NM_001130438.3(SPTAN1):c.2630C>T (p.Ala877Val)
|
|
|
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys)
|
rs886043660
|
|
NM_001130438.3(SPTAN1):c.2666_2686dup (p.Tyr895_Phe896insSerLeuGlnAlaGlnGlnTyr)
|
|
|
NM_001130438.3(SPTAN1):c.2674_2675delinsTT (p.Ala892Phe)
|
|
|
NM_001130438.3(SPTAN1):c.2678A>G (p.Gln893Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2679G>C (p.Gln893His)
|
|
|
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp)
|
rs886063502
|
|
NM_001130438.3(SPTAN1):c.2720G>A (p.Arg907Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)
|
rs1064797353
|
|
NM_001130438.3(SPTAN1):c.2764G>A (p.Glu922Lys)
|
rs2131196507
|
|
NM_001130438.3(SPTAN1):c.2778+10C>T
|
|
|
NM_001130438.3(SPTAN1):c.2778+5C>G
|
rs2131196835
|
|
NM_001130438.3(SPTAN1):c.2797G>A (p.Glu933Lys)
|
|
|
NM_001130438.3(SPTAN1):c.2806A>G (p.Met936Val)
|
|
|
NM_001130438.3(SPTAN1):c.2827G>A (p.Gly943Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)
|
rs796053301
|
|
NM_001130438.3(SPTAN1):c.2902G>C (p.Gly968Arg)
|
rs2131266449
|
|
NM_001130438.3(SPTAN1):c.2914G>A (p.Val972Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2926T>G (p.Tyr976Asp)
|
|
|
NM_001130438.3(SPTAN1):c.2933A>G (p.Tyr978Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2937G>C (p.Gln979His)
|
rs2131267130
|
|
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln)
|
rs1057521149
|
|
NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3006+6G>A
|
rs2131267970
|
|
NM_001130438.3(SPTAN1):c.3006+7C>T
|
|
|
NM_001130438.3(SPTAN1):c.3030C>A (p.Asn1010Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3034C>G (p.Arg1012Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3056C>T (p.Ala1019Val)
|
rs1349058117
|
|
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)
|
rs150793549
|
|
NM_001130438.3(SPTAN1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3077C>G (p.Pro1026Arg)
|
rs1853527559
|
|
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)
|
rs779759134
|
|
NM_001130438.3(SPTAN1):c.3097G>A (p.Glu1033Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3100A>G (p.Asn1034Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3102T>A (p.Asn1034Lys)
|
rs760755333
|
|
NM_001130438.3(SPTAN1):c.3103C>A (p.Leu1035Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3103C>T (p.Leu1035Phe)
|
rs1853533209
|
|
NM_001130438.3(SPTAN1):c.3116A>G (p.Gln1039Arg)
|
rs1853534747
|
|
NM_001130438.3(SPTAN1):c.3121A>G (p.Ser1041Gly)
|
rs2131319338
|
|
NM_001130438.3(SPTAN1):c.3131T>C (p.Leu1044Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys)
|
rs1853536448
|
|
NM_001130438.3(SPTAN1):c.3144G>T (p.Gln1048His)
|
|
|
NM_001130438.3(SPTAN1):c.3145A>G (p.Ile1049Val)
|
|
|
NM_001130438.3(SPTAN1):c.3146T>C (p.Ile1049Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3155+6G>A
|
|
|
NM_001130438.3(SPTAN1):c.3156-6G>T
|
|
|
NM_001130438.3(SPTAN1):c.3161G>C (p.Arg1054Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3167C>T (p.Thr1056Ile)
|
rs1428641675
|
|
NM_001130438.3(SPTAN1):c.3182G>C (p.Ser1061Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)
|
rs764844675
|
|
NM_001130438.3(SPTAN1):c.3202C>G (p.Gln1068Glu)
|
rs2131342579
|
|
NM_001130438.3(SPTAN1):c.3213A>C (p.Glu1071Asp)
|
|
|
NM_001130438.3(SPTAN1):c.322C>G (p.Leu108Val)
|
rs2130860508
|
|
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys)
|
rs750290385
|
|
NM_001130438.3(SPTAN1):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3292C>G (p.Arg1098Gly)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3293G>A (p.Arg1098His)
|
rs1853921006
|
|
NM_001130438.3(SPTAN1):c.3304G>C (p.Glu1102Gln)
|
|
|
NM_001130438.3(SPTAN1):c.3310C>A (p.Gln1104Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3316T>C (p.Trp1106Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3318G>C (p.Trp1106Cys)
|
|
|
NM_001130438.3(SPTAN1):c.3365A>G (p.Asp1122Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3415-11T>C
|
|
|
NM_001130438.3(SPTAN1):c.3415-17T>C
|
|
|
NM_001130438.3(SPTAN1):c.3425C>T (p.Ala1142Val)
|
rs1854605015
|
|
NM_001130438.3(SPTAN1):c.3437G>A (p.Arg1146Gln)
|
rs1854606025
|
|
NM_001130438.3(SPTAN1):c.3444G>T (p.Lys1148Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys)
|
rs1379161622
|
|
NM_001130438.3(SPTAN1):c.3491C>T (p.Ala1164Val)
|
|
|
NM_001130438.3(SPTAN1):c.3523G>A (p.Val1175Met)
|
|
|
NM_001130438.3(SPTAN1):c.3523G>C (p.Val1175Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3530G>A (p.Gly1177Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3530G>T (p.Gly1177Val)
|
|
|
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser)
|
rs1554754141
|
|
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
|
|
|
NM_001130438.3(SPTAN1):c.3562A>G (p.Thr1188Ala)
|
rs2131475357
|
|
NM_001130438.3(SPTAN1):c.3565G>A (p.Ala1189Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3566C>A (p.Ala1189Asp)
|
rs1004013873
|
|
NM_001130438.3(SPTAN1):c.3568T>G (p.Ser1190Ala)
|
rs2131475553
|
|
NM_001130438.3(SPTAN1):c.3571C>T (p.Pro1191Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu)
|
rs796053304
|
|
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg)
|
rs796053305
|
|
NM_001130438.3(SPTAN1):c.3579+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.3579+5_3579+8del
|
|
|
NM_001130438.3(SPTAN1):c.3579G>A (p.Lys1193=)
|
|
|
NM_001130438.3(SPTAN1):c.3584C>T (p.Ala1195Val)
|
|
|
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
|
|
|
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
|
rs1244278345
|
|
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)
|
rs1376670407
|
|
NM_001130438.3(SPTAN1):c.3623T>C (p.Ile1208Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3627+20_3627+21delinsAG
|
|
|
NM_001130438.3(SPTAN1):c.363+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.363G>A (p.Arg121=)
|
rs1312160720
|
|
NM_001130438.3(SPTAN1):c.363_363+18dup
|
|
|
NM_001130438.3(SPTAN1):c.3641_3658dup (p.Gln1219_Gln1220insArgTrpArgSerLeuGln)
|
|
|
NM_001130438.3(SPTAN1):c.3647G>T (p.Arg1216Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3659A>G (p.Gln1220Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)
|
rs796053306
|
|
NM_001130438.3(SPTAN1):c.3719+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.373A>G (p.Met125Val)
|
rs1564206483
|
|
NM_001130438.3(SPTAN1):c.373A>T (p.Met125Leu)
|
|
|
NM_001130438.3(SPTAN1):c.374T>C (p.Met125Thr)
|
rs2130964756
|
|
NM_001130438.3(SPTAN1):c.3756G>C (p.Lys1252Asn)
|
rs1855650696
|
|
NM_001130438.3(SPTAN1):c.3776A>G (p.Asp1259Gly)
|
rs1229172232
|
|
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
NM_001130438.3(SPTAN1):c.3864+6A>G
|
|
|
NM_001130438.3(SPTAN1):c.3872C>T (p.Ser1291Phe)
|
|
|
NM_001130438.3(SPTAN1):c.3877G>T (p.Gly1293Cys)
|
|
|
NM_001130438.3(SPTAN1):c.390G>T (p.Gln130His)
|
rs975951020
|
|
NM_001130438.3(SPTAN1):c.3956A>G (p.Gln1319Arg)
|
rs1412090989
|
|
NM_001130438.3(SPTAN1):c.3980G>A (p.Arg1327His)
|
|
|
NM_001130438.3(SPTAN1):c.3988C>G (p.Gln1330Glu)
|
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.3992G>A (p.Arg1331His)
|
|
|
NM_001130438.3(SPTAN1):c.3998C>G (p.Ala1333Gly)
|
rs2131576989
|
|
NM_001130438.3(SPTAN1):c.4009G>A (p.Asp1337Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4055T>C (p.Met1352Thr)
|
|
|
NM_001130438.3(SPTAN1):c.405G>C (p.Leu135Phe)
|
|
|
NM_001130438.3(SPTAN1):c.4067A>G (p.Asn1356Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4079G>T (p.Gly1360Val)
|
rs2131613100
|
|
NM_001130438.3(SPTAN1):c.4094A>G (p.Asp1365Gly)
|
rs1175320305
|
|
NM_001130438.3(SPTAN1):c.4115C>T (p.Thr1372Ile)
|
rs2131613513
|
|
NM_001130438.3(SPTAN1):c.4117G>A (p.Gly1373Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4146+3G>A
|
rs990426186
|
|
NM_001130438.3(SPTAN1):c.4146+4G>C
|
rs1856067067
|
|
NM_001130438.3(SPTAN1):c.4148A>G (p.Glu1383Gly)
|
rs1019310261
|
|
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)
|
rs770189298
|
|
NM_001130438.3(SPTAN1):c.4164C>G (p.Ile1388Met)
|
rs759713935
|
|
NM_001130438.3(SPTAN1):c.4184T>C (p.Phe1395Ser)
|
rs1239390443
|
|
NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4205G>A (p.Gly1402Glu)
|
|
|
NM_001130438.3(SPTAN1):c.4219G>T (p.Ala1407Ser)
|
rs2131616745
|
|
NM_001130438.3(SPTAN1):c.4223A>G (p.His1408Arg)
|
rs2131616851
|
|
NM_001130438.3(SPTAN1):c.4226G>A (p.Gly1409Glu)
|
|
|
NM_001130438.3(SPTAN1):c.4229A>G (p.His1410Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4241C>T (p.Pro1414Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4248C>G (p.Ile1416Met)
|
|
|
NM_001130438.3(SPTAN1):c.4249A>G (p.Lys1417Glu)
|
rs2131617226
|
|
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)
|
rs1156309213
|
|
NM_001130438.3(SPTAN1):c.4285G>A (p.Asp1429Asn)
|
|
|
NM_001130438.3(SPTAN1):c.428T>A (p.Ile143Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4296G>T (p.Lys1432Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4297G>C (p.Ala1433Pro)
|
rs1444736163
|
|
NM_001130438.3(SPTAN1):c.4330T>C (p.Cys1444Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4331G>A (p.Cys1444Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.4344+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.4344+6T>C
|
rs2131618659
|
|
NM_001130438.3(SPTAN1):c.4345-3T>C
|
|
|
NM_001130438.3(SPTAN1):c.4354C>T (p.Arg1452Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4360T>G (p.Cys1454Gly)
|
rs1220414198
|
|
NM_001130438.3(SPTAN1):c.4364A>G (p.Glu1455Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4364A>T (p.Glu1455Val)
|
|
|
NM_001130438.3(SPTAN1):c.4378T>C (p.Trp1460Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4388C>A (p.Ala1463Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp)
|
rs1489830382
|
|
NM_001130438.3(SPTAN1):c.4391G>T (p.Arg1464Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4397C>A (p.Ala1466Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4411G>A (p.Glu1471Lys)
|
|
|
NM_001130438.3(SPTAN1):c.4414_4415delinsAC (p.Asp1472Thr)
|
|
|
NM_001130438.3(SPTAN1):c.442G>A (p.Ala148Thr)
|
rs1190475290
|
|
NM_001130438.3(SPTAN1):c.4432G>A (p.Asp1478Asn)
|
rs2131620796
|
|
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4438G>A (p.Val1480Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4460A>G (p.His1487Arg)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val)
|
rs2131621179
|
|
NM_001130438.3(SPTAN1):c.447G>T (p.Gln149His)
|
|
|
NM_001130438.3(SPTAN1):c.4486G>A (p.Val1496Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4490A>C (p.Gln1497Pro)
|
rs1856150338
|
|
NM_001130438.3(SPTAN1):c.4514A>T (p.Gln1505Leu)
|
rs2131630842
|
|
NM_001130438.3(SPTAN1):c.451T>A (p.Leu151Met)
|
rs2130966073
|
|
NM_001130438.3(SPTAN1):c.4526A>G (p.Asp1509Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4535T>A (p.Ile1512Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4537G>A (p.Ala1513Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4571G>A (p.Ser1524Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4573C>T (p.Arg1525Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4585G>C (p.Val1529Leu)
|
rs2131632285
|
|
NM_001130438.3(SPTAN1):c.4596-17T>A
|
|
|
NM_001130438.3(SPTAN1):c.4615C>G (p.Gln1539Glu)
|
rs2131635386
|
|
NM_001130438.3(SPTAN1):c.4622T>C (p.Ile1541Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4655C>G (p.Thr1552Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4678G>A (p.Val1560Met)
|
rs1856292384
|
|
NM_001130438.3(SPTAN1):c.4700T>G (p.Ile1567Ser)
|
|
|
NM_001130438.3(SPTAN1):c.470A>G (p.Glu157Gly)
|
|
|
NM_001130438.3(SPTAN1):c.472T>C (p.Cys158Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4733C>T (p.Ser1578Leu)
|
rs756887707
|
|
NM_001130438.3(SPTAN1):c.4747A>C (p.Thr1583Pro)
|
rs1856299526
|
|
NM_001130438.3(SPTAN1):c.4814A>G (p.His1605Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln)
|
rs1564286745
|
|
NM_001130438.3(SPTAN1):c.482T>C (p.Val161Ala)
|
|
|
NM_001130438.3(SPTAN1):c.4834C>T (p.Arg1612Cys)
|
|
|
NM_001130438.3(SPTAN1):c.4835G>A (p.Arg1612His)
|
|
|
NM_001130438.3(SPTAN1):c.4846G>A (p.Asp1616Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4849A>G (p.Met1617Val)
|
|
|
NM_001130438.3(SPTAN1):c.4885G>A (p.Gly1629Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)
|
rs1057522726
|
|
NM_001130438.3(SPTAN1):c.4907C>T (p.Ala1636Val)
|
|
|
NM_001130438.3(SPTAN1):c.4910G>T (p.Arg1637Leu)
|
rs777707442
|
|
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro)
|
rs1554759970
|
|
NM_001130438.3(SPTAN1):c.4941C>A (p.Phe1647Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
|
rs1589327320
|
|
NM_001130438.3(SPTAN1):c.5038T>G (p.Ser1680Ala)
|
rs1856647848
|
|
NM_001130438.3(SPTAN1):c.5043+4A>C
|
rs745921302
|
|
NM_001130438.3(SPTAN1):c.5043+5C>A
|
|
|
NM_001130438.3(SPTAN1):c.505-4A>G
|
rs377129746
|
|
NM_001130438.3(SPTAN1):c.5090C>T (p.Ser1697Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5114A>C (p.His1705Pro)
|
|
|
NM_001130438.3(SPTAN1):c.5128G>A (p.Ala1710Thr)
|
|
|
NM_001130438.3(SPTAN1):c.512T>C (p.Ile171Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5135T>C (p.Ile1712Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5140G>A (p.Ala1714Thr)
|
rs1856789445
|
|
NM_001130438.3(SPTAN1):c.5140G>T (p.Ala1714Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5158A>G (p.Lys1720Glu)
|
rs2131743765
|
|
NM_001130438.3(SPTAN1):c.5163C>G (p.Asp1721Glu)
|
|
|
NM_001130438.3(SPTAN1):c.5190G>T (p.Met1730Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5195G>T (p.Ser1732Ile)
|
rs751640888
|
|
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn)
|
rs148294757
|
|
NM_001130438.3(SPTAN1):c.5210C>T (p.Thr1737Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5213C>G (p.Ser1738Cys)
|
rs2131744493
|
|
NM_001130438.3(SPTAN1):c.5222A>G (p.Lys1741Arg)
|
rs1857080869
|
|
NM_001130438.3(SPTAN1):c.5234A>G (p.Asp1745Gly)
|
|
|
NM_001130438.3(SPTAN1):c.5249G>A (p.Arg1750His)
|
|
|
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)
|
rs1857087403
|
|
NM_001130438.3(SPTAN1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_001130438.3(SPTAN1):c.5282G>T (p.Arg1761Leu)
|
rs755046868
|
|
NM_001130438.3(SPTAN1):c.5285G>A (p.Arg1762Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5293C>A (p.Leu1765Met)
|
rs2131745997
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.5327G>A (p.Arg1776Gln)
|
rs754299854
|
|
NM_001130438.3(SPTAN1):c.5333T>C (p.Met1778Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5334G>T (p.Met1778Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5341G>A (p.Glu1781Lys)
|
rs368949860
|
|
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
|
rs1589179268
|
|
NM_001130438.3(SPTAN1):c.5410G>A (p.Val1804Met)
|
|
|
NM_001130438.3(SPTAN1):c.5431C>T (p.His1811Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.5437C>T (p.Arg1813Trp)
|
rs3750333
|
|
NM_001130438.3(SPTAN1):c.5453T>A (p.Leu1818Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)
|
rs796053320
|
|
NM_001130438.3(SPTAN1):c.5473A>G (p.Ile1825Val)
|
|
|
NM_001130438.3(SPTAN1):c.5479-3C>T
|
rs1464939078
|
|
NM_001130438.3(SPTAN1):c.5482G>A (p.Val1828Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5483T>C (p.Val1828Ala)
|
|
|
NM_001130438.3(SPTAN1):c.548A>G (p.His183Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5500A>G (p.Lys1834Glu)
|
rs2131798457
|
|
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
|
|
|
NM_001130438.3(SPTAN1):c.5527A>G (p.Lys1843Glu)
|
rs2131799096
|
|
NM_001130438.3(SPTAN1):c.5530G>C (p.Glu1844Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5560G>T (p.Val1854Leu)
|
rs752677999
|
|
NM_001130438.3(SPTAN1):c.5576A>C (p.Glu1859Ala)
|
|
|
NM_001130438.3(SPTAN1):c.5576A>G (p.Glu1859Gly)
|
rs2131800107
|
|
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
|
rs1589354582
|
|
NM_001130438.3(SPTAN1):c.5602G>T (p.Gly1868Cys)
|
rs2131816719
|
|
NM_001130438.3(SPTAN1):c.5609G>A (p.Arg1870Gln)
|
rs1857510980
|
|
NM_001130438.3(SPTAN1):c.5674A>C (p.Asn1892His)
|
|
|
NM_001130438.3(SPTAN1):c.5679G>T (p.Glu1893Asp)
|
rs1857518094
|
|
NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5702A>G (p.Glu1901Gly)
|
rs2131818051
|
|
NM_001130438.3(SPTAN1):c.5717C>G (p.Thr1906Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5733+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.5763G>T (p.Glu1921Asp)
|
|
|
NM_001130438.3(SPTAN1):c.5788C>T (p.Arg1930Cys)
|
rs267602137
|
|
NM_001130438.3(SPTAN1):c.5818G>C (p.Asp1940His)
|
|
|
NM_001130438.3(SPTAN1):c.5832+3G>A
|
rs1368511172
|
|
NM_001130438.3(SPTAN1):c.5836A>T (p.Asn1946Tyr)
|
rs1858409467
|
|
NM_001130438.3(SPTAN1):c.5841C>G (p.His1947Gln)
|
rs1564311308
|
|
NM_001130438.3(SPTAN1):c.5867T>A (p.Met1956Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr)
|
rs878854246
|
|
NM_001130438.3(SPTAN1):c.5891C>T (p.Ser1964Leu)
|
|
|
NM_001130438.3(SPTAN1):c.5899G>C (p.Glu1967Gln)
|
rs1858419335
|
|
NM_001130438.3(SPTAN1):c.5915A>G (p.Gln1972Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.5924C>T (p.Ala1975Val)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.592A>G (p.Met198Val)
|
|
|
NM_001130438.3(SPTAN1):c.593T>A (p.Met198Lys)
|
rs924110992
|
|
NM_001130438.3(SPTAN1):c.5944G>T (p.Ala1982Ser)
|
rs2131923594
|
|
NM_001130438.3(SPTAN1):c.5948T>G (p.Phe1983Cys)
|
|
|
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile)
|
rs1440498629
|
|
NM_001130438.3(SPTAN1):c.5960A>C (p.Asn1987Thr)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5960A>T (p.Asn1987Ile)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5966A>G (p.Lys1989Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5991C>T (p.Ile1997=)
|
|
|
NM_001130438.3(SPTAN1):c.6067C>G (p.Gln2023Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6070-3C>G
|
rs1858641214
|
|
NM_001130438.3(SPTAN1):c.6088C>T (p.Leu2030=)
|
|
|
NM_001130438.3(SPTAN1):c.6093G>T (p.Gln2031His)
|
|
|
NM_001130438.3(SPTAN1):c.6103C>A (p.Gln2035Lys)
|
rs145129059
|
|
NM_001130438.3(SPTAN1):c.6103C>G (p.Gln2035Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6114T>G (p.Ile2038Met)
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
NM_001130438.3(SPTAN1):c.6165G>T (p.Gln2055His)
|
rs2131953698
|
|
NM_001130438.3(SPTAN1):c.6169A>G (p.Lys2057Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6175A>G (p.Ile2059Val)
|
|
|
NM_001130438.3(SPTAN1):c.617A>T (p.Asn206Ile)
|
rs752726486
|
|
NM_001130438.3(SPTAN1):c.6187C>T (p.His2063Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6191C>T (p.Ala2064Val)
|
|
|
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
NM_001130438.3(SPTAN1):c.6201G>T (p.Met2067Ile)
|
rs2131954418
|
|
NM_001130438.3(SPTAN1):c.6206G>A (p.Arg2069Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6223G>A (p.Ala2075Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6226A>G (p.Asn2076Asp)
|
rs1251099177
|
|
NM_001130438.3(SPTAN1):c.6230C>T (p.Ser2077Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6238C>G (p.Arg2080Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001130438.3(SPTAN1):c.6253C>A (p.Leu2085Met)
|
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
NM_001130438.3(SPTAN1):c.6260C>G (p.Ala2087Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6262C>G (p.Gln2088Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6275G>T (p.Arg2092Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6279+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.6279+4A>G
|
|
|
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=)
|
rs1554766786
|
|
NM_001130438.3(SPTAN1):c.6286G>A (p.Asp2096Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6304G>A (p.Ala2102Thr)
|
|
|
NM_001130438.3(SPTAN1):c.630G>T (p.Gln210His)
|
rs1851179826
|
|
NM_001130438.3(SPTAN1):c.6347A>C (p.Glu2116Ala)
|
rs2131965544
|
|
NM_001130438.3(SPTAN1):c.6376A>G (p.Asn2126Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6389A>T (p.Glu2130Val)
|
rs1858765679
|
|
NM_001130438.3(SPTAN1):c.6403C>A (p.Arg2135Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6403C>T (p.Arg2135Cys)
|
rs751337586
|
|
NM_001130438.3(SPTAN1):c.6406G>A (p.Glu2136Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6416A>G (p.Asp2139Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6425G>C (p.Arg2142Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6427T>C (p.Ser2143Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6428C>T (p.Ser2143Phe)
|
|
|
NM_001130438.3(SPTAN1):c.6446A>G (p.Gln2149Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6469G>A (p.Glu2157Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly)
|
rs985288328
|
|
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)
|
rs780696613
|
|
NM_001130438.3(SPTAN1):c.6482A>G (p.Gln2161Arg)
|
rs1858781937
|
|
NM_001130438.3(SPTAN1):c.6491G>A (p.Ser2164Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6491G>C (p.Ser2164Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
NM_001130438.3(SPTAN1):c.6514T>C (p.Tyr2172His)
|
|
|
NM_001130438.3(SPTAN1):c.6524T>A (p.Phe2175Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6538C>A (p.Leu2180Met)
|
|
|
NM_001130438.3(SPTAN1):c.6542A>C (p.Glu2181Ala)
|
rs760925342
|
|
NM_001130438.3(SPTAN1):c.654G>T (p.Glu218Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly)
|
rs2131968714
|
|
NM_001130438.3(SPTAN1):c.6557A>G (p.Asn2186Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6568A>G (p.Ile2190Val)
|
|
|
NM_001130438.3(SPTAN1):c.6576+4C>T
|
|
|
NM_001130438.3(SPTAN1):c.6576G>A (p.Lys2192=)
|
|
|
NM_001130438.3(SPTAN1):c.6607C>T (p.Arg2203Trp)
|
rs759842941
|
|
NM_001130438.3(SPTAN1):c.6622A>C (p.Asn2208His)
|
|
|
NM_001130438.3(SPTAN1):c.662C>G (p.Pro221Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys)
|
rs1589393382
|
|
NM_001130438.3(SPTAN1):c.6673T>A (p.Trp2225Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6691A>G (p.Thr2231Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6707+5A>G
|
|
|
NM_001130438.3(SPTAN1):c.6754G>T (p.Ala2252Ser)
|
rs1859501262
|
|
NM_001130438.3(SPTAN1):c.6760A>G (p.Lys2254Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6762+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.6762+3_6762+6del
|
rs1554768212
|
|
NM_001130438.3(SPTAN1):c.6778A>G (p.Ile2260Val)
|
|
|
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6782G>A (p.Arg2261Gln)
|
rs1859856842
|
|
NM_001130438.3(SPTAN1):c.6806A>G (p.Lys2269Arg)
|
rs1859859210
|
|
NM_001130438.3(SPTAN1):c.6816C>A (p.Asp2272Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6826G>T (p.Ala2276Ser)
|
rs375244907
|
|
NM_001130438.3(SPTAN1):c.682A>G (p.Thr228Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met)
|
rs2132089093
|
|
NM_001130438.3(SPTAN1):c.6877G>A (p.Val2293Met)
|
|
|
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr)
|
rs2132089475
|
|
NM_001130438.3(SPTAN1):c.6892C>G (p.Gln2298Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6902A>T (p.Gln2301Leu)
|
rs1859871133
|
|
NM_001130438.3(SPTAN1):c.692A>G (p.Asp231Gly)
|
rs2131005873
|
|
NM_001130438.3(SPTAN1):c.694G>A (p.Glu232Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6959+5C>T
|
rs1057523269
|
|
NM_001130438.3(SPTAN1):c.6960-3C>T
|
|
|
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=)
|
rs1276832919
|
|
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
|
|
|
NM_001130438.3(SPTAN1):c.701A>T (p.Asn234Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7040G>C (p.Arg2347Thr)
|
rs1859949028
|
|
NM_001130438.3(SPTAN1):c.7048C>G (p.His2350Asp)
|
|
|
NM_001130438.3(SPTAN1):c.7067G>A (p.Cys2356Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys)
|
rs772463904
|
|
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His)
|
rs957046231
|
|
NM_001130438.3(SPTAN1):c.7108G>C (p.Gly2370Arg)
|
rs1257414255
|
|
NM_001130438.3(SPTAN1):c.7123G>C (p.Glu2375Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln)
|
rs757162652
|
|
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)
|
rs767301092
|
|
NM_001130438.3(SPTAN1):c.7141G>A (p.Asp2381Asn)
|
rs1436043063
|
|
NM_001130438.3(SPTAN1):c.7154C>A (p.Pro2385Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7160+4AATT[3]
|
|
|
NM_001130438.3(SPTAN1):c.7160+5_7160+9del
|
rs747442396
|
|
NM_001130438.3(SPTAN1):c.7161-13C>G
|
|
|
NM_001130438.3(SPTAN1):c.7161-3T>C
|
|
|
NM_001130438.3(SPTAN1):c.7166G>A (p.Gly2389Asp)
|
|
|
NM_001130438.3(SPTAN1):c.716G>A (p.Arg239Gln)
|
|
|
NM_001130438.3(SPTAN1):c.7198A>C (p.Met2400Leu)
|
rs1339856488
|
|
NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His)
|
rs1280116999
|
|
NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
|
|
|
NM_001130438.3(SPTAN1):c.7246A>C (p.Ser2416Arg)
|
|
|
NM_001130438.3(SPTAN1):c.7247G>A (p.Ser2416Asn)
|
rs1445682776
|
|
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
|
rs143739246
|
|
NM_001130438.3(SPTAN1):c.7256G>T (p.Arg2419Leu)
|
rs772995493
|
|
NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
|
|
|
NM_001130438.3(SPTAN1):c.7264A>G (p.Ser2422Gly)
|
|
|
NM_001130438.3(SPTAN1):c.7265G>A (p.Ser2422Asn)
|
|
|
NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys)
|
rs1860016560
|
|
NM_001130438.3(SPTAN1):c.7272G>C (p.Glu2424Asp)
|
rs766229911
|
|
NM_001130438.3(SPTAN1):c.7279C>T (p.Pro2427Ser)
|
|
|
NM_001130438.3(SPTAN1):c.7280C>T (p.Pro2427Leu)
|
rs1860019438
|
|
NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu)
|
rs2132107869
|
|
NM_001130438.3(SPTAN1):c.7295A>C (p.Glu2432Ala)
|
|
|
NM_001130438.3(SPTAN1):c.7299G>T (p.Glu2433Asp)
|
|
|
NM_001130438.3(SPTAN1):c.7307_7308+30dup
|
|
|
NM_001130438.3(SPTAN1):c.7308+17G>T
|
|
|
NM_001130438.3(SPTAN1):c.7309-7C>G
|
|
|
NM_001130438.3(SPTAN1):c.730G>A (p.Ala244Thr)
|
|
|
NM_001130438.3(SPTAN1):c.7316C>A (p.Thr2439Asn)
|
rs746532292
|
|
NM_001130438.3(SPTAN1):c.7324C>A (p.Gln2442Lys)
|
rs2132117718
|
|
NM_001130438.3(SPTAN1):c.7335C>G (p.Tyr2445Ter)
|
|
|
NM_001130438.3(SPTAN1):c.7353_7354delinsAA (p.Pro2452Thr)
|
|
|
NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7360G>C (p.Val2454Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7385C>A (p.Pro2462His)
|
|
|
NM_001130438.3(SPTAN1):c.7385C>T (p.Pro2462Leu)
|
|
|
NM_001130438.3(SPTAN1):c.7391C>A (p.Ala2464Glu)
|
|
|
NM_001130438.3(SPTAN1):c.7401C>A (p.Tyr2467Ter)
|
|
|
NM_001130438.3(SPTAN1):c.7406A>C (p.Glu2469Ala)
|
rs1860133867
|
|
NM_001130438.3(SPTAN1):c.7409T>A (p.Phe2470Tyr)
|
rs1860134597
|
|
NM_001130438.3(SPTAN1):c.7420C>A (p.Leu2474Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7420C>T (p.Leu2474Phe)
|
|
|
NM_001130438.3(SPTAN1):c.746G>A (p.Gly249Glu)
|
rs1851368468
|
|
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)
|
rs1850091477
|
|
NM_001130438.3(SPTAN1):c.794A>G (p.Asp265Gly)
|
|
|
NM_001130438.3(SPTAN1):c.829T>G (p.Leu277Val)
|
rs1851404419
|
|
NM_001130438.3(SPTAN1):c.831A>T (p.Leu277Phe)
|
|
|
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
|
rs1300670035
|
|
NM_001130438.3(SPTAN1):c.841GAT[1] (p.Asp282del)
|
rs1564211324
|
|
NM_001130438.3(SPTAN1):c.856G>C (p.Asp286His)
|
|
|
NM_001130438.3(SPTAN1):c.868G>A (p.Val290Ile)
|
|
|
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
|
rs763633945
|
|
NM_001130438.3(SPTAN1):c.883C>T (p.Arg295Trp)
|
|
|
NM_001130438.3(SPTAN1):c.903G>T (p.Glu301Asp)
|
rs2131012602
|
|
NM_001130438.3(SPTAN1):c.909T>G (p.Asp303Glu)
|
rs761676912
|
|
NM_001130438.3(SPTAN1):c.928A>G (p.Lys310Glu)
|
|
|
NM_001130438.3(SPTAN1):c.930G>A (p.Lys310=)
|
rs1851412252
|
|
NM_001130438.3(SPTAN1):c.931G>A (p.Val311Ile)
|
|
|
NM_001130438.3(SPTAN1):c.937G>A (p.Ala313Thr)
|
|
|
NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro)
|
rs778408492
|
|
NM_001130438.3(SPTAN1):c.955G>A (p.Asp319Asn)
|
|
|
NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His)
|
rs2131014686
|
|
NM_001130438.3(SPTAN1):c.970T>A (p.Ser324Thr)
|
|
|
NM_001130438.3(SPTAN1):c.991C>G (p.Gln331Glu)
|
|
|
NM_001165963.4(SCN1A):c.1012A>T (p.Asn338Tyr)
|
|
|
NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser)
|
rs1553548063
|
|
NM_001165963.4(SCN1A):c.1028+6T>C
|
rs1277925945
|
|
NM_001165963.4(SCN1A):c.1029-3C>T
|
|
|
NM_001165963.4(SCN1A):c.1029-5T>G
|
rs2105868433
|
|
NM_001165963.4(SCN1A):c.1029-7C>G
|
|
|
NM_001165963.4(SCN1A):c.1029C>G (p.Gly343=)
|
rs1698032277
|
|
NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys)
|
|
|
NM_001165963.4(SCN1A):c.1043G>T (p.Gly348Val)
|
rs2105868181
|
|
NM_001165963.4(SCN1A):c.1049T>A (p.Met350Lys)
|
rs1283627130
|
|
NM_001165963.4(SCN1A):c.1051T>A (p.Cys351Ser)
|
rs2105868016
|
|
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
|
rs1698022280
|
|
NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val)
|
rs1698021918
|
|
NM_001165963.4(SCN1A):c.1081G>A (p.Gly361Ser)
|
|
|
NM_001165963.4(SCN1A):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_001165963.4(SCN1A):c.1088C>A (p.Thr363Lys)
|
|
|
NM_001165963.4(SCN1A):c.1091G>A (p.Ser364Asn)
|
|
|
NM_001165963.4(SCN1A):c.1091G>C (p.Ser364Thr)
|
rs752775574
|
|
NM_001165963.4(SCN1A):c.1094T>C (p.Phe365Ser)
|
rs1553547493
|
|
NM_001165963.4(SCN1A):c.1095T>C (p.Phe365=)
|
|
|
NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)
|
rs1698011519
|
|
NM_001165963.4(SCN1A):c.1101C>T (p.Thr367=)
|
|
|
NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys)
|
|
|
NM_001165963.4(SCN1A):c.1117T>G (p.Leu373Val)
|
rs1698008539
|
|
NM_001165963.4(SCN1A):c.1132C>T (p.Leu378=)
|
|
|
NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile)
|
|
|
NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys)
|
rs1553547403
|
|
NM_001165963.4(SCN1A):c.1166A>C (p.Gln389Pro)
|
rs2105866610
|
|
NM_001165963.4(SCN1A):c.1167A>G (p.Gln389=)
|
|
|
NM_001165963.4(SCN1A):c.1170+3_1170+4delinsTT
|
rs2105866527
|
|
NM_001165963.4(SCN1A):c.1170+5G>C
|
rs1057524737
|
|
NM_001165963.4(SCN1A):c.1170+5G>T
|
rs1057524737
|
|
NM_001165963.4(SCN1A):c.1171-3C>T
|
|
|
NM_001165963.4(SCN1A):c.1171A>T (p.Thr391Ser)
|
rs1697917375
|
|
NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser)
|
rs2105862926
|
|
NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly)
|
rs1559226096
|
|
NM_001165963.4(SCN1A):c.11C>T (p.Thr4Ile)
|
|
|
NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val)
|
rs1697908394
|
|
NM_001165963.4(SCN1A):c.1205T>G (p.Phe402Cys)
|
|
|
NM_001165963.4(SCN1A):c.1206T>A (p.Phe402Leu)
|
|
|
NM_001165963.4(SCN1A):c.1228G>C (p.Gly410Arg)
|
rs1574235136
|
|
NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr)
|
rs1697902111
|
|
NM_001165963.4(SCN1A):c.1258G>C (p.Ala420Pro)
|
rs2105862170
|
|
NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1272G>A (p.Met424Ile)
|
rs1697897988
|
|
NM_001165963.4(SCN1A):c.1274C>T (p.Ala425Val)
|
rs1697897304
|
|
NM_001165963.4(SCN1A):c.127G>C (p.Asp43His)
|
|
|
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)
|
rs1697892980
|
|
NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly)
|
rs2105861457
|
|
NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del)
|
rs1697886499
|
|
NM_001165963.4(SCN1A):c.1327G>C (p.Glu443Gln)
|
rs1300925640
|
|
NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val)
|
rs777596738
|
|
NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly)
|
rs1559284606
|
|
NM_001165963.4(SCN1A):c.1351C>T (p.Leu451Phe)
|
|
|
NM_001165963.4(SCN1A):c.1376A>G (p.Gln459Arg)
|
rs2105860766
|
|
NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT
|
|
|
NM_001165963.4(SCN1A):c.1377+3A>C
|
rs1060502191
|
|
NM_001165963.4(SCN1A):c.1377+6G>T
|
rs1574233195
|
|
NM_001165963.4(SCN1A):c.1378-12_1378-8del
|
|
|
NM_001165963.4(SCN1A):c.1378-3T>G
|
|
|
NM_001165963.4(SCN1A):c.1378-4dup
|
|
|
NM_001165963.4(SCN1A):c.1393A>G (p.Thr465Ala)
|
rs2105852658
|
|
NM_001165963.4(SCN1A):c.1404A>C (p.Glu468Asp)
|
rs747528512
|
|
NM_001165963.4(SCN1A):c.140A>G (p.Asn47Ser)
|
|
|
NM_001165963.4(SCN1A):c.1411A>G (p.Arg471Gly)
|
rs1553545793
|
|
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)
|
rs1697679015
|
|
NM_001165963.4(SCN1A):c.1478G>C (p.Ser493Thr)
|
rs1697671710
|
|
NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg)
|
rs200545739
|
|
NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly)
|
|
|
NM_001165963.4(SCN1A):c.1493G>C (p.Arg498Thr)
|
rs1448731908
|
|
NM_001165963.4(SCN1A):c.1508A>G (p.Lys503Arg)
|
|
|
NM_001165963.4(SCN1A):c.1511G>T (p.Arg504Ile)
|
rs2105851522
|
|
NM_001165963.4(SCN1A):c.1512A>C (p.Arg504Ser)
|
rs1233541206
|
|
NM_001165963.4(SCN1A):c.1522G>C (p.Glu508Gln)
|
rs781087488
|
|
NM_001165963.4(SCN1A):c.1531G>C (p.Gly511Arg)
|
rs1559220753
|
|
NM_001165963.4(SCN1A):c.1538A>G (p.Glu513Gly)
|
rs1553545586
|
|
NM_001165963.4(SCN1A):c.1556A>G (p.Glu519Gly)
|
|
|
NM_001165963.4(SCN1A):c.1567T>C (p.Ser523Pro)
|
|
|
NM_001165963.4(SCN1A):c.1573T>A (p.Ser525Thr)
|
rs2105850864
|
|
NM_001165963.4(SCN1A):c.1573T>C (p.Ser525Pro)
|
|
|
NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr)
|
rs1166000241
|
|
NM_001165963.4(SCN1A):c.1594A>G (p.Lys532Glu)
|
|
|
NM_001165963.4(SCN1A):c.1604G>C (p.Arg535Pro)
|
rs184524479
|
|
NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser)
|
rs1697635871
|
|
NM_001165963.4(SCN1A):c.1648TCC[1] (p.Ser551del)
|
rs1391693620
|
|
NM_001165963.4(SCN1A):c.1657C>T (p.His553Tyr)
|
rs1697628486
|
|
NM_001165963.4(SCN1A):c.1659C>A (p.His553Gln)
|
|
|
NM_001165963.4(SCN1A):c.1678C>G (p.Arg560Gly)
|
|
|
NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys)
|
rs1176739172
|
|
NM_001165963.4(SCN1A):c.1708A>T (p.Ser570Cys)
|
rs2105844454
|
|
NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys)
|
rs1697493699
|
|
NM_001165963.4(SCN1A):c.1719C>A (p.Ser573Arg)
|
|
|
NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg)
|
rs748767737
|
|
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn)
|
rs1697492585
|
|
NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met)
|
|
|
NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn)
|
rs781481818
|
|
NM_001165963.4(SCN1A):c.1770C>A (p.Phe590Leu)
|
|
|
NM_001165963.4(SCN1A):c.1771G>A (p.Ala591Thr)
|
rs1437209028
|
|
NM_001165963.4(SCN1A):c.1780G>A (p.Glu594Lys)
|
|
|
NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del)
|
rs796053061
|
|
NM_001165963.4(SCN1A):c.1801A>G (p.Asn601Asp)
|
rs1697474227
|
|
NM_001165963.4(SCN1A):c.1805A>G (p.Glu602Gly)
|
rs2105843593
|
|
NM_001165963.4(SCN1A):c.1808G>A (p.Ser603Asn)
|
rs1697471204
|
|
NM_001165963.4(SCN1A):c.1809C>A (p.Ser603Arg)
|
|
|
NM_001165963.4(SCN1A):c.1817A>G (p.Asp606Gly)
|
|
|
NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val)
|
rs748797259
|
|
NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr)
|
rs967989950
|
|
NM_001165963.4(SCN1A):c.1822T>A (p.Leu608Met)
|
|
|
NM_001165963.4(SCN1A):c.1825T>C (p.Phe609Leu)
|
rs2105843262
|
|
NM_001165963.4(SCN1A):c.1828G>A (p.Val610Met)
|
|
|
NM_001165963.4(SCN1A):c.1840C>T (p.His614Tyr)
|
|
|
NM_001165963.4(SCN1A):c.1842C>G (p.His614Gln)
|
|
|
NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly)
|
rs1553544701
|
|
NM_001165963.4(SCN1A):c.1850G>A (p.Arg617Lys)
|
|
|
NM_001165963.4(SCN1A):c.1852C>A (p.Arg618Ser)
|
|
|
NM_001165963.4(SCN1A):c.1858A>T (p.Ser620Cys)
|
|
|
NM_001165963.4(SCN1A):c.1865T>G (p.Leu622Arg)
|
|
|
NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg)
|
|
|
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro)
|
rs145670933
|
|
NM_001165963.4(SCN1A):c.1892T>C (p.Met631Thr)
|
|
|
NM_001165963.4(SCN1A):c.1903T>C (p.Phe635Leu)
|
|
|
NM_001165963.4(SCN1A):c.1915G>A (p.Gly639Arg)
|
|
|
NM_001165963.4(SCN1A):c.1920G>T (p.Lys640Asn)
|
rs1697434336
|
|
NM_001165963.4(SCN1A):c.1923G>A (p.Met641Ile)
|
rs2105842235
|
|
NM_001165963.4(SCN1A):c.1936G>A (p.Asp646Asn)
|
rs1553544581
|
|
NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met)
|
rs398123586
|
|
NM_001165963.4(SCN1A):c.1959G>C (p.Leu653Phe)
|
rs1697427696
|
|
NM_001165963.4(SCN1A):c.1961T>C (p.Val654Ala)
|
rs1697427369
|
|
NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val)
|
|
|
NM_001165963.4(SCN1A):c.1975G>A (p.Val659Ile)
|
rs1559215483
|
|
NM_001165963.4(SCN1A):c.1976T>C (p.Val659Ala)
|
|
|
NM_001165963.4(SCN1A):c.1978C>A (p.Pro660Thr)
|
|
|
NM_001165963.4(SCN1A):c.2011G>T (p.Val671Leu)
|
|
|
NM_001165963.4(SCN1A):c.2015T>C (p.Ile672Thr)
|
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser)
|
rs758871507
|
|
NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys)
|
rs754934003
|
|
NM_001165963.4(SCN1A):c.2044-20_2051dup
|
rs1288412817
|
|
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
|
rs1398374184
|
|
NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile)
|
rs1574209746
|
|
NM_001165963.4(SCN1A):c.2062G>A (p.Glu688Lys)
|
|
|
NM_001165963.4(SCN1A):c.2066T>C (p.Met689Thr)
|
rs1559213016
|
|
NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly)
|
rs939867202
|
|
NM_001165963.4(SCN1A):c.208C>A (p.Pro70Thr)
|
rs2105982466
|
|
NM_001165963.4(SCN1A):c.2110C>G (p.Leu704Val)
|
rs2105835263
|
|
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro)
|
rs1131691747
|
|
NM_001165963.4(SCN1A):c.2120C>T (p.Pro707Leu)
|
|
|
NM_001165963.4(SCN1A):c.2123C>T (p.Ser708Phe)
|
|
|
NM_001165963.4(SCN1A):c.2137G>A (p.Ala713Thr)
|
|
|
NM_001165963.4(SCN1A):c.2140A>G (p.Met714Val)
|
rs1697282256
|
|
NM_001165963.4(SCN1A):c.2141T>C (p.Met714Thr)
|
|
|
NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn)
|
rs1553543839
|
|
NM_001165963.4(SCN1A):c.215T>C (p.Met72Thr)
|
|
|
NM_001165963.4(SCN1A):c.2164A>G (p.Asn722Asp)
|
rs1341631584
|
|
NM_001165963.4(SCN1A):c.2167_2176+13dup
|
|
|
NM_001165963.4(SCN1A):c.2168C>T (p.Thr723Ile)
|
|
|
NM_001165963.4(SCN1A):c.2170G>A (p.Val724Ile)
|
rs771260698
|
|
NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly)
|
|
|
NM_001165963.4(SCN1A):c.2191A>G (p.Arg731Gly)
|
rs2105829492
|
|
NM_001165963.4(SCN1A):c.2192G>T (p.Arg731Met)
|
|
|
NM_001165963.4(SCN1A):c.2203C>G (p.Pro735Ala)
|
|
|
NM_001165963.4(SCN1A):c.2230A>G (p.Ile744Val)
|
rs2105829122
|
|
NM_001165963.4(SCN1A):c.2245G>T (p.Asp749Tyr)
|
rs1697156587
|
|
NM_001165963.4(SCN1A):c.2247C>G (p.Asp749Glu)
|
rs1697155906
|
|
NM_001165963.4(SCN1A):c.2248T>A (p.Cys750Ser)
|
|
|
NM_001165963.4(SCN1A):c.2248T>G (p.Cys750Gly)
|
|
|
NM_001165963.4(SCN1A):c.2252C>T (p.Ser751Phe)
|
rs2105828879
|
|
NM_001165963.4(SCN1A):c.2262G>C (p.Trp754Cys)
|
rs1553543323
|
|
NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu)
|
rs1426666349
|
|
NM_001165963.4(SCN1A):c.2269G>A (p.Val757Met)
|
rs1697152393
|
|
NM_001165963.4(SCN1A):c.226C>T (p.Pro76Ser)
|
rs1574371737
|
|
NM_001165963.4(SCN1A):c.2278G>T (p.Val760Phe)
|
rs1574203036
|
|
NM_001165963.4(SCN1A):c.2284A>G (p.Asn762Asp)
|
rs2105828579
|
|
NM_001165963.4(SCN1A):c.2287C>A (p.Leu763Met)
|
|
|
NM_001165963.4(SCN1A):c.2289G>A (p.Leu763=)
|
rs1697149654
|
|
NM_001165963.4(SCN1A):c.2292T>A (p.Val764=)
|
rs6432860
|
|
NM_001165963.4(SCN1A):c.2292_2293inv (p.Val765Met)
|
|
|
NM_001165963.4(SCN1A):c.2300A>G (p.Asp767Gly)
|
|
|
NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu)
|
rs794726766
|
|
NM_001165963.4(SCN1A):c.2310T>A (p.Val770=)
|
rs1697144683
|
|
NM_001165963.4(SCN1A):c.2311G>A (p.Asp771Asn)
|
|
|
NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr)
|
rs2105828112
|
|
NM_001165963.4(SCN1A):c.2332A>G (p.Ile778Val)
|
rs2105828062
|
|
NM_001165963.4(SCN1A):c.2344A>T (p.Thr782Ser)
|
rs1574202324
|
|
NM_001165963.4(SCN1A):c.2366A>T (p.His789Leu)
|
|
|
NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala)
|
rs1697132427
|
|
NM_001165963.4(SCN1A):c.2372C>A (p.Pro791Gln)
|
|
|
NM_001165963.4(SCN1A):c.2372C>T (p.Pro791Leu)
|
rs1697132063
|
|
NM_001165963.4(SCN1A):c.2374A>G (p.Met792Val)
|
|
|
NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn)
|
rs1360811002
|
|
NM_001165963.4(SCN1A):c.2380G>C (p.Asp794His)
|
|
|
NM_001165963.4(SCN1A):c.2385T>G (p.His795Gln)
|
rs1334303970
|
|
NM_001165963.4(SCN1A):c.2389A>G (p.Asn797Asp)
|
|
|
NM_001165963.4(SCN1A):c.238C>G (p.Leu80Val)
|
rs2105982158
|
|
NM_001165963.4(SCN1A):c.2399T>C (p.Leu800Pro)
|
rs2105827389
|
|
NM_001165963.4(SCN1A):c.2403A>G (p.Thr801=)
|
|
|
NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile)
|
rs1057518467
|
|
NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val)
|
|
|
NM_001165963.4(SCN1A):c.2415+16G>A
|
|
|
NM_001165963.4(SCN1A):c.2415+3_2415+24del
|
rs1553543127
|
|
NM_001165963.4(SCN1A):c.2415G>T (p.Leu805Phe)
|
rs1697125571
|
|
NM_001165963.4(SCN1A):c.2416-35_2419dup
|
rs1696890186
|
|
NM_001165963.4(SCN1A):c.2416-6T>G
|
rs2105817829
|
|
NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro)
|
|
|
NM_001165963.4(SCN1A):c.2431T>G (p.Phe811Val)
|
|
|
NM_001165963.4(SCN1A):c.2437G>A (p.Ala813Thr)
|
|
|
NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del)
|
rs1696886277
|
|
NM_001165963.4(SCN1A):c.244C>T (p.Pro82Ser)
|
|
|
NM_001165963.4(SCN1A):c.245C>T (p.Pro82Leu)
|
rs2105982111
|
|
NM_001165963.4(SCN1A):c.2470C>A (p.Pro824Thr)
|
|
|
NM_001165963.4(SCN1A):c.2474A>G (p.Tyr825Cys)
|
|
|
NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg)
|
|
|
NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser)
|
rs796052981
|
|
NM_001165963.4(SCN1A):c.2515_2517del (p.Ile839del)
|
rs2105817035
|
|
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)
|
rs2105817051
|
|
NM_001165963.4(SCN1A):c.2518G>A (p.Val840Met)
|
rs1574192730
|
|
NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg)
|
|
|
NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val)
|
rs1574371287
|
|
NM_001165963.4(SCN1A):c.2548G>A (p.Ala850Thr)
|
|
|
NM_001165963.4(SCN1A):c.2552A>T (p.Asn851Ile)
|
rs561912072
|
|
NM_001165963.4(SCN1A):c.2557G>A (p.Glu853Lys)
|
|
|
NM_001165963.4(SCN1A):c.256A>C (p.Asn86His)
|
|
|
NM_001165963.4(SCN1A):c.2570T>C (p.Val857Ala)
|
|
|
NM_001165963.4(SCN1A):c.2589+7A>G
|
|
|
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)
|
rs140035595
|
|
NM_001165963.4(SCN1A):c.2591T>A (p.Leu864Gln)
|
|
|
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)
|
rs1057517862
|
|
NM_001165963.4(SCN1A):c.2601C>A (p.Phe867Leu)
|
rs2105808775
|
|
NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr)
|
|
|
NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu)
|
|
|
NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu)
|
rs1553541525
|
|
NM_001165963.4(SCN1A):c.2624C>G (p.Thr875Arg)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.2630A>G (p.Asn877Ser)
|
|
|
NM_001165963.4(SCN1A):c.264+3G>A
|
|
|
NM_001165963.4(SCN1A):c.2641A>G (p.Lys881Glu)
|
rs1553541502
|
|
NM_001165963.4(SCN1A):c.265-3C>T
|
rs1553553614
|
|
NM_001165963.4(SCN1A):c.2650G>C (p.Gly884Arg)
|
rs1253956567
|
|
NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla)
|
rs1553541493
|
|
NM_001165963.4(SCN1A):c.266C>T (p.Thr89Ile)
|
rs1574302474
|
|
NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser)
|
rs1553541455
|
|
NM_001165963.4(SCN1A):c.2681C>A (p.Thr894Asn)
|
rs796052983
|
|
NM_001165963.4(SCN1A):c.2691G>A (p.Leu897=)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.2695A>G (p.Ile899Val)
|
|
|
NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val)
|
rs1696655187
|
|
NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe)
|
|
|
NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu)
|
rs185760342
|
|
NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser)
|
rs796052984
|
|
NM_001165963.4(SCN1A):c.2725A>G (p.Met909Val)
|
|
|
NM_001165963.4(SCN1A):c.2726T>G (p.Met909Arg)
|
rs1559200116
|
|
NM_001165963.4(SCN1A):c.2732T>C (p.Leu911Pro)
|
|
|
NM_001165963.4(SCN1A):c.2737G>C (p.Gly913Arg)
|
rs1696648191
|
|
NM_001165963.4(SCN1A):c.2738G>T (p.Gly913Val)
|
|
|
NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn)
|
|
|
NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys)
|
rs1559200027
|
|
NM_001165963.4(SCN1A):c.2771C>T (p.Ala924Val)
|
rs1696642330
|
|
NM_001165963.4(SCN1A):c.2783A>C (p.Gln928Pro)
|
rs1060502192
|
|
NM_001165963.4(SCN1A):c.2798A>T (p.His933Leu)
|
rs1696637467
|
|
NM_001165963.4(SCN1A):c.2803A>T (p.Asn935Tyr)
|
rs2105806890
|
|
NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile)
|
|
|
NM_001165963.4(SCN1A):c.2858T>C (p.Ile953Thr)
|
rs1696621654
|
|
NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys)
|
rs1553541157
|
|
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)
|
rs121918750
|
|
NM_001165963.4(SCN1A):c.2891G>C (p.Gly964Ala)
|
|
|
NM_001165963.4(SCN1A):c.2891G>T (p.Gly964Val)
|
|
|
NM_001165963.4(SCN1A):c.2899A>G (p.Met967Val)
|
|
|
NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val)
|
rs121917991
|
|
NM_001165963.4(SCN1A):c.2933T>C (p.Ile978Thr)
|
rs1553541028
|
|
NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val)
|
rs2105918454
|
|
NM_001165963.4(SCN1A):c.2944G>A (p.Val982Met)
|
|
|
NM_001165963.4(SCN1A):c.2946+4T>C
|
rs1390205269
|
|
NM_001165963.4(SCN1A):c.2947-10T>A
|
rs1696409431
|
|
NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val)
|
rs796052990
|
|
NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly)
|
|
|
NM_001165963.4(SCN1A):c.29G>C (p.Gly10Ala)
|
|
|
NM_001165963.4(SCN1A):c.3008C>T (p.Thr1003Ile)
|
|
|
NM_001165963.4(SCN1A):c.3019A>G (p.Asn1007Asp)
|
rs1696389624
|
|
NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr)
|
|
|
NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp)
|
|
|
NM_001165963.4(SCN1A):c.3077T>G (p.Val1026Gly)
|
rs1696379248
|
|
NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met)
|
|
|
NM_001165963.4(SCN1A):c.3110C>A (p.Ser1037Tyr)
|
|
|
NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys)
|
rs1265022938
|
|
NM_001165963.4(SCN1A):c.3126A>C (p.Gln1042His)
|
|
|
NM_001165963.4(SCN1A):c.3136G>T (p.Asp1046Tyr)
|
rs1696366603
|
|
NM_001165963.4(SCN1A):c.3139G>A (p.Glu1047Lys)
|
rs776984527
|
|
NM_001165963.4(SCN1A):c.3149C>T (p.Pro1050Leu)
|
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.3154G>T (p.Asp1052Tyr)
|
rs1696363649
|
|
NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val)
|
rs772577387
|
|
NM_001165963.4(SCN1A):c.3167A>G (p.Asn1056Ser)
|
|
|
NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe)
|
|
|
NM_001165963.4(SCN1A):c.3185T>A (p.Met1062Lys)
|
rs2105795236
|
|
NM_001165963.4(SCN1A):c.3185T>G (p.Met1062Arg)
|
|
|
NM_001165963.4(SCN1A):c.3186G>A (p.Met1062Ile)
|
|
|
NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser)
|
|
|
NM_001165963.4(SCN1A):c.3197C>A (p.Thr1066Lys)
|
|
|
NM_001165963.4(SCN1A):c.319G>T (p.Ala107Ser)
|
rs745404213
|
|
NM_001165963.4(SCN1A):c.31C>T (p.Pro11Ser)
|
rs1684706255
|
|
NM_001165963.4(SCN1A):c.3200C>A (p.Ala1067Glu)
|
|
|
NM_001165963.4(SCN1A):c.322C>G (p.Leu108Val)
|
|
|
NM_001165963.4(SCN1A):c.3232G>C (p.Asp1078His)
|
|
|
NM_001165963.4(SCN1A):c.3233A>G (p.Asp1078Gly)
|
|
|
NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile)
|
|
|
NM_001165963.4(SCN1A):c.3245C>A (p.Thr1082Asn)
|
|
|
NM_001165963.4(SCN1A):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_001165963.4(SCN1A):c.3260G>A (p.Gly1087Glu)
|
|
|
NM_001165963.4(SCN1A):c.3280A>G (p.Lys1094Glu)
|
|
|
NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys)
|
rs1188507636
|
|
NM_001165963.4(SCN1A):c.329T>A (p.Ile110Asn)
|
|
|
NM_001165963.4(SCN1A):c.3301G>C (p.Asp1101His)
|
|
|
NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr)
|
rs1559193311
|
|
NM_001165963.4(SCN1A):c.3309G>A (p.Met1103Ile)
|
rs2105794207
|
|
NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr)
|
rs528170959
|
|
NM_001165963.4(SCN1A):c.3332T>C (p.Leu1111Pro)
|
|
|
NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met)
|
|
|
NM_001165963.4(SCN1A):c.3341C>T (p.Thr1114Ile)
|
|
|
NM_001165963.4(SCN1A):c.3342T>A (p.Thr1114=)
|
rs904226939
|
|
NM_001165963.4(SCN1A):c.3343G>C (p.Val1115Leu)
|
|
|
NM_001165963.4(SCN1A):c.3356T>C (p.Val1119Ala)
|
rs2105793697
|
|
NM_001165963.4(SCN1A):c.3362A>T (p.Glu1121Val)
|
|
|
NM_001165963.4(SCN1A):c.3365C>G (p.Ser1122Cys)
|
rs2105793589
|
|
NM_001165963.4(SCN1A):c.3368A>C (p.Asp1123Ala)
|
rs1559192797
|
|
NM_001165963.4(SCN1A):c.3376A>G (p.Asn1126Asp)
|
|
|
NM_001165963.4(SCN1A):c.3385A>T (p.Thr1129Ser)
|
rs2105793364
|
|
NM_001165963.4(SCN1A):c.3391G>C (p.Asp1131His)
|
|
|
NM_001165963.4(SCN1A):c.3395T>C (p.Phe1132Ser)
|
|
|
NM_001165963.4(SCN1A):c.3401G>A (p.Ser1134Asn)
|
rs753444206
|
|
NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val)
|
|
|
NM_001165963.4(SCN1A):c.3424A>G (p.Lys1142Glu)
|
rs1553540101
|
|
NM_001165963.4(SCN1A):c.3429+5G>T
|
|
|
NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=)
|
rs796052994
|
|
NM_001165963.4(SCN1A):c.3430-3C>G
|
rs1693199299
|
|
NM_001165963.4(SCN1A):c.3445_3450del (p.Ser1151_Ser1152del)
|
rs1314539929
|
|
NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser)
|
rs1699357096
|
|
NM_001165963.4(SCN1A):c.3455C>T (p.Ser1152Leu)
|
|
|
NM_001165963.4(SCN1A):c.3506T>A (p.Val1169Glu)
|
rs1380673643
|
|
NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys)
|
rs1553534085
|
|
NM_001165963.4(SCN1A):c.3525_3526insTCTTCAGGTTCT (p.Leu1175_Glu1176insSerSerGlySer)
|
|
|
NM_001165963.4(SCN1A):c.3529_3531del (p.Pro1177del)
|
|
|
NM_001165963.4(SCN1A):c.3539G>T (p.Cys1180Phe)
|
rs1444741563
|
|
NM_001165963.4(SCN1A):c.353G>A (p.Arg118Lys)
|
|
|
NM_001165963.4(SCN1A):c.3550+6G>T
|
|
|
NM_001165963.4(SCN1A):c.3551-3C>A
|
|
|
NM_001165963.4(SCN1A):c.3551G>A (p.Gly1184Asp)
|
rs746541835
|
|
NM_001165963.4(SCN1A):c.3554G>A (p.Cys1185Tyr)
|
|
|
NM_001165963.4(SCN1A):c.3565T>C (p.Phe1189Leu)
|
rs1692897012
|
|
NM_001165963.4(SCN1A):c.3568A>C (p.Lys1190Gln)
|
rs1553532748
|
|
NM_001165963.4(SCN1A):c.3572G>A (p.Cys1191Tyr)
|
|
|
NM_001165963.4(SCN1A):c.3574T>G (p.Cys1192Gly)
|
|
|
NM_001165963.4(SCN1A):c.3579A>C (p.Gln1193His)
|
rs757649321
|
|
NM_001165963.4(SCN1A):c.3596G>A (p.Gly1199Asp)
|
|
|
NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys)
|
rs762734890
|
|
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys)
|
rs1559149025
|
|
NM_001165963.4(SCN1A):c.3623G>C (p.Arg1208Thr)
|
|
|
NM_001165963.4(SCN1A):c.3631T>C (p.Cys1211Arg)
|
rs1692876877
|
|
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr)
|
rs1574060743
|
|
NM_001165963.4(SCN1A):c.3644T>A (p.Val1215Asp)
|
rs1559148930
|
|
NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val)
|
rs1405137253
|
|
NM_001165963.4(SCN1A):c.3655T>A (p.Trp1219Arg)
|
rs1553532599
|
|
NM_001165963.4(SCN1A):c.3665C>T (p.Thr1222Ile)
|
|
|
NM_001165963.4(SCN1A):c.3667T>G (p.Phe1223Val)
|
|
|
NM_001165963.4(SCN1A):c.3670A>G (p.Ile1224Val)
|
rs1210683098
|
|
NM_001165963.4(SCN1A):c.3671T>C (p.Ile1224Thr)
|
rs1553532551
|
|
NM_001165963.4(SCN1A):c.3672T>G (p.Ile1224Met)
|
|
|
NM_001165963.4(SCN1A):c.3677T>G (p.Phe1226Cys)
|
rs1692863303
|
|
NM_001165963.4(SCN1A):c.3680T>C (p.Met1227Thr)
|
|
|
NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser)
|
rs796052997
|
|
NM_001165963.4(SCN1A):c.3685C>T (p.Leu1229Phe)
|
|
|
NM_001165963.4(SCN1A):c.3695G>A (p.Ser1232Asn)
|
|
|
NM_001165963.4(SCN1A):c.3705+3G>T
|
rs2105609368
|
|
NM_001165963.4(SCN1A):c.3705+6T>C
|
rs1692854443
|
|
NM_001165963.4(SCN1A):c.3705G>A (p.Leu1235=)
|
rs1251252995
|
|
NM_001165963.4(SCN1A):c.3705G>C (p.Leu1235=)
|
rs1251252995
|
|
NM_001165963.4(SCN1A):c.3706-12T>G
|
rs2105594508
|
|
NM_001165963.4(SCN1A):c.3706-20_3706-19insCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT
|
|
|
NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser)
|
rs1553531410
|
|
NM_001165963.4(SCN1A):c.3712G>C (p.Glu1238Gln)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.371T>G (p.Ile124Ser)
|
rs121918761
|
|
NM_001165963.4(SCN1A):c.373T>G (p.Leu125Val)
|
|
|
NM_001165963.4(SCN1A):c.3740C>T (p.Thr1247Met)
|
|
|
NM_001165963.4(SCN1A):c.3763G>A (p.Ala1255Thr)
|
|
|
NM_001165963.4(SCN1A):c.3767A>C (p.Asp1256Ala)
|
|
|
NM_001165963.4(SCN1A):c.3767A>G (p.Asp1256Gly)
|
rs2105593110
|
|
NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile)
|
rs1699350822
|
|
NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu)
|
|
|
NM_001165963.4(SCN1A):c.377T>C (p.Val126Ala)
|
rs1699350522
|
|
NM_001165963.4(SCN1A):c.377T>G (p.Val126Gly)
|
|
|
NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu)
|
rs1559144956
|
|
NM_001165963.4(SCN1A):c.3791T>C (p.Ile1264Thr)
|
|
|
NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe)
|
rs1692552933
|
|
NM_001165963.4(SCN1A):c.3836A>G (p.Tyr1279Cys)
|
|
|
NM_001165963.4(SCN1A):c.384-1C>T
|
rs794726764
|
|
NM_001165963.4(SCN1A):c.384-3T>G
|
|
|
NM_001165963.4(SCN1A):c.3845A>G (p.Asn1282Ser)
|
rs1692549264
|
|
NM_001165963.4(SCN1A):c.3848C>G (p.Ala1283Gly)
|
|
|
NM_001165963.4(SCN1A):c.3854G>A (p.Cys1285Tyr)
|
rs1692546613
|
|
NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser)
|
rs794727224
|
|
NM_001165963.4(SCN1A):c.3879+4G>T
|
rs763755211
|
|
NM_001165963.4(SCN1A):c.3880G>T (p.Val1294Phe)
|
rs1692186944
|
|
NM_001165963.4(SCN1A):c.3883T>C (p.Ser1295Pro)
|
|
|
NM_001165963.4(SCN1A):c.3883T>G (p.Ser1295Ala)
|
|
|
NM_001165963.4(SCN1A):c.3893G>C (p.Ser1298Thr)
|
rs2105571316
|
|
NM_001165963.4(SCN1A):c.3896T>C (p.Leu1299Ser)
|
|
|
NM_001165963.4(SCN1A):c.3902C>T (p.Ala1301Val)
|
rs1553529579
|
|
NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val)
|
rs2105570936
|
|
NM_001165963.4(SCN1A):c.392G>A (p.Ser131Asn)
|
rs1699154477
|
|
NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val)
|
rs2105570494
|
|
NM_001165963.4(SCN1A):c.3937A>C (p.Lys1313Gln)
|
rs150017890
|
|
NM_001165963.4(SCN1A):c.393C>G (p.Ser131Arg)
|
rs1574290971
|
|
NM_001165963.4(SCN1A):c.3943C>T (p.Leu1315Phe)
|
rs1559140423
|
|
NM_001165963.4(SCN1A):c.3952C>G (p.Leu1318Val)
|
rs1692165143
|
|
NM_001165963.4(SCN1A):c.3962T>C (p.Leu1321Pro)
|
rs1692162066
|
|
NM_001165963.4(SCN1A):c.3975A>C (p.Arg1325Ser)
|
rs1692159292
|
|
NM_001165963.4(SCN1A):c.3979T>G (p.Leu1327Val)
|
|
|
NM_001165963.4(SCN1A):c.397C>A (p.Leu133Ile)
|
|
|
NM_001165963.4(SCN1A):c.3989T>C (p.Phe1330Ser)
|
rs1559140205
|
|
NM_001165963.4(SCN1A):c.398T>C (p.Leu133Pro)
|
|
|
NM_001165963.4(SCN1A):c.398T>G (p.Leu133Arg)
|
rs1131691440
|
|
NM_001165963.4(SCN1A):c.4001G>A (p.Arg1334Lys)
|
|
|
NM_001165963.4(SCN1A):c.4002+1999_4002+2014del
|
|
|
NM_001165963.4(SCN1A):c.4002+2356del
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2452G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2455G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2471C>G
|
|
|
NM_001165963.4(SCN1A):c.4002+2493C>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2494T>G
|
rs1057202299
|
|
NM_001165963.4(SCN1A):c.4010T>C (p.Val1337Ala)
|
rs794727338
|
|
NM_001165963.4(SCN1A):c.4031T>C (p.Ile1344Thr)
|
rs1691087838
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.4037C>T (p.Ser1346Phe)
|
|
|
NM_001165963.4(SCN1A):c.404T>A (p.Met135Lys)
|
|
|
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4068A>G (p.Ile1356Met)
|
rs1691078631
|
|
NM_001165963.4(SCN1A):c.4070T>A (p.Phe1357Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile)
|
rs1691077298
|
|
NM_001165963.4(SCN1A):c.4075C>G (p.Leu1359Val)
|
rs1691077298
|
|
NM_001165963.4(SCN1A):c.4076T>C (p.Leu1359Pro)
|
|
|
NM_001165963.4(SCN1A):c.4088T>C (p.Ile1363Thr)
|
|
|
NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp)
|
|
|
NM_001165963.4(SCN1A):c.4091T>C (p.Met1364Thr)
|
rs1691074591
|
|
NM_001165963.4(SCN1A):c.4102T>G (p.Leu1368Val)
|
rs1553525227
|
|
NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys)
|
rs1064795303
|
|
NM_001165963.4(SCN1A):c.4117T>G (p.Phe1373Val)
|
rs2105509471
|
|
NM_001165963.4(SCN1A):c.4118T>C (p.Phe1373Ser)
|
rs2105509458
|
|
NM_001165963.4(SCN1A):c.4120T>C (p.Tyr1374His)
|
rs750007609
|
|
NM_001165963.4(SCN1A):c.4128T>G (p.Cys1376Trp)
|
rs1485075354
|
|
NM_001165963.4(SCN1A):c.4144G>A (p.Gly1382Ser)
|
rs2105509153
|
|
NM_001165963.4(SCN1A):c.4147G>A (p.Asp1383Asn)
|
rs2105509090
|
|
NM_001165963.4(SCN1A):c.4156G>A (p.Asp1386Asn)
|
|
|
NM_001165963.4(SCN1A):c.4161C>G (p.Ile1387Met)
|
|
|
NM_001165963.4(SCN1A):c.4177C>T (p.His1393Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4201G>A (p.Glu1401Lys)
|
rs1691049407
|
|
NM_001165963.4(SCN1A):c.4214C>T (p.Thr1405Ile)
|
rs2105508351
|
|
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln)
|
rs1691045272
|
|
NM_001165963.4(SCN1A):c.4232T>C (p.Val1411Ala)
|
|
|
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4238T>A (p.Val1413Glu)
|
rs1559127385
|
|
NM_001165963.4(SCN1A):c.424T>C (p.Cys142Arg)
|
|
|
NM_001165963.4(SCN1A):c.4262G>T (p.Gly1421Val)
|
rs1064795756
|
|
NM_001165963.4(SCN1A):c.4282G>C (p.Val1428Leu)
|
rs878854263
|
|
NM_001165963.4(SCN1A):c.4285-4A>G
|
rs796053007
|
|
NM_001165963.4(SCN1A):c.4285G>T (p.Ala1429Ser)
|
rs796053008
|
|
NM_001165963.4(SCN1A):c.4288A>T (p.Thr1430Ser)
|
|
|
NM_001165963.4(SCN1A):c.4293C>A (p.Phe1431Leu)
|
|
|
NM_001165963.4(SCN1A):c.4306G>A (p.Asp1436Asn)
|
|
|
NM_001165963.4(SCN1A):c.4316A>G (p.Tyr1439Cys)
|
rs1690577824
|
|
NM_001165963.4(SCN1A):c.4325T>C (p.Val1442Ala)
|
rs1690573756
|
|
NM_001165963.4(SCN1A):c.4328A>G (p.Asp1443Gly)
|
|
|
NM_001165963.4(SCN1A):c.4334G>A (p.Arg1445Lys)
|
|
|
NM_001165963.4(SCN1A):c.4339-12C>A
|
rs776548109
|
|
NM_001165963.4(SCN1A):c.4339-5G>A
|
rs1057522587
|
|
NM_001165963.4(SCN1A):c.4339G>C (p.Val1447Leu)
|
rs1559119642
|
|
NM_001165963.4(SCN1A):c.4339G>T (p.Val1447Leu)
|
rs1559119642
|
|
NM_001165963.4(SCN1A):c.4342G>A (p.Glu1448Lys)
|
|
|
NM_001165963.4(SCN1A):c.4343A>T (p.Glu1448Val)
|
|
|
NM_001165963.4(SCN1A):c.4362A>T (p.Glu1454Asp)
|
|
|
NM_001165963.4(SCN1A):c.4363G>C (p.Glu1455Gln)
|
rs1131691600
|
|
NM_001165963.4(SCN1A):c.4365A>C (p.Glu1455Asp)
|
|
|
NM_001165963.4(SCN1A):c.4375A>G (p.Met1459Val)
|
rs1553522451
|
|
NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4382T>C (p.Leu1461Pro)
|
|
|
NM_001165963.4(SCN1A):c.4390G>T (p.Val1464Phe)
|
rs1690336662
|
|
NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala)
|
|
|
NM_001165963.4(SCN1A):c.4408G>C (p.Gly1470Arg)
|
rs121917924
|
|
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.4409G>C (p.Gly1470Ala)
|
rs1573984236
|
|
NM_001165963.4(SCN1A):c.441G>A (p.Met147Ile)
|
|
|
NM_001165963.4(SCN1A):c.4424T>G (p.Leu1475Trp)
|
rs121917947
|
|
NM_001165963.4(SCN1A):c.4437T>G (p.Ile1479Met)
|
|
|
NM_001165963.4(SCN1A):c.4446C>G (p.Ile1482Met)
|
rs398123596
|
|
NM_001165963.4(SCN1A):c.4449A>G (p.Ile1483Met)
|
|
|
NM_001165963.4(SCN1A):c.4451A>C (p.Asp1484Ala)
|
rs1553522339
|
|
NM_001165963.4(SCN1A):c.4468A>G (p.Lys1490Glu)
|
rs1553522306
|
|
NM_001165963.4(SCN1A):c.4474A>G (p.Lys1492Glu)
|
rs1553522287
|
|
NM_001165963.4(SCN1A):c.447C>A (p.Asn149Lys)
|
rs1484003948
|
|
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro)
|
rs2105462677
|
|
NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr)
|
rs745687892
|
|
NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His)
|
rs1559114837
|
|
NM_001165963.4(SCN1A):c.4513A>C (p.Lys1505Gln)
|
|
|
NM_001165963.4(SCN1A):c.4514A>T (p.Lys1505Met)
|
|
|
NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys)
|
rs2105462218
|
|
NM_001165963.4(SCN1A):c.452C>A (p.Pro151His)
|
|
|
NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg)
|
rs2105461833
|
|
NM_001165963.4(SCN1A):c.4552A>C (p.Lys1518Gln)
|
rs1689995442
|
|
NM_001165963.4(SCN1A):c.4555C>G (p.Pro1519Ala)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4574G>C (p.Arg1525Pro)
|
rs1559114408
|
|
NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu)
|
rs751929295
|
|
NM_001165963.4(SCN1A):c.4582-3C>G
|
rs747649993
|
|
NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp)
|
rs794727398
|
|
NM_001165963.4(SCN1A):c.4590T>G (p.Phe1530Leu)
|
|
|
NM_001165963.4(SCN1A):c.4594G>A (p.Gly1532Arg)
|
rs1553521078
|
|
NM_001165963.4(SCN1A):c.4598T>A (p.Met1533Lys)
|
rs1689722313
|
|
NM_001165963.4(SCN1A):c.460A>G (p.Thr154Ala)
|
rs1317965295
|
|
NM_001165963.4(SCN1A):c.4620A>T (p.Arg1540Ser)
|
|
|
NM_001165963.4(SCN1A):c.4622A>G (p.Gln1541Arg)
|
|
|
NM_001165963.4(SCN1A):c.4624G>A (p.Val1542Ile)
|
|
|
NM_001165963.4(SCN1A):c.4637G>A (p.Ser1546Asn)
|
|
|
NM_001165963.4(SCN1A):c.4651A>C (p.Ile1551Leu)
|
rs1553521053
|
|
NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe)
|
rs1553521053
|
|
NM_001165963.4(SCN1A):c.4653C>G (p.Ile1551Met)
|
rs2105449247
|
|
NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg)
|
|
|
NM_001165963.4(SCN1A):c.4662C>A (p.Asn1554Lys)
|
rs1689710741
|
|
NM_001165963.4(SCN1A):c.4663A>G (p.Met1555Val)
|
rs2105449182
|
|
NM_001165963.4(SCN1A):c.4673T>A (p.Met1558Lys)
|
|
|
NM_001165963.4(SCN1A):c.4674G>T (p.Met1558Ile)
|
rs796053023
|
|
NM_001165963.4(SCN1A):c.468T>A (p.Asn156Lys)
|
|
|
NM_001165963.4(SCN1A):c.468T>G (p.Asn156Lys)
|
rs1250844959
|
|
NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys)
|
rs1037225738
|
|
NM_001165963.4(SCN1A):c.46TTC[1] (p.Phe17del)
|
rs2105984083
|
|
NM_001165963.4(SCN1A):c.4712C>A (p.Thr1571Asn)
|
rs112547129
|
|
NM_001165963.4(SCN1A):c.4724G>C (p.Arg1575Pro)
|
rs368834365
|
|
NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val)
|
rs1689696329
|
|
NM_001165963.4(SCN1A):c.4727T>A (p.Ile1576Asn)
|
rs2105448524
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=)
|
rs758734319
|
|
NM_001165963.4(SCN1A):c.4736T>C (p.Val1579Ala)
|
|
|
NM_001165963.4(SCN1A):c.4736T>G (p.Val1579Gly)
|
|
|
NM_001165963.4(SCN1A):c.4739T>G (p.Phe1580Cys)
|
rs1689693509
|
|
NM_001165963.4(SCN1A):c.4748T>A (p.Leu1583Gln)
|
|
|
NM_001165963.4(SCN1A):c.4750T>C (p.Phe1584Leu)
|
|
|
NM_001165963.4(SCN1A):c.4758A>T (p.Gly1586=)
|
|
|
NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu)
|
rs796053027
|
|
NM_001165963.4(SCN1A):c.4793A>G (p.Tyr1598Cys)
|
rs377325221
|
|
NM_001165963.4(SCN1A):c.4799T>A (p.Phe1600Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala)
|
rs1573963046
|
|
NM_001165963.4(SCN1A):c.4805T>C (p.Ile1602Thr)
|
|
|
NM_001165963.4(SCN1A):c.4834G>T (p.Val1612Phe)
|
|
|
NM_001165963.4(SCN1A):c.4843T>A (p.Ser1615Thr)
|
rs2105447300
|
|
NM_001165963.4(SCN1A):c.4843T>C (p.Ser1615Pro)
|
rs2105447300
|
|
NM_001165963.4(SCN1A):c.4844C>T (p.Ser1615Phe)
|
rs2105447276
|
|
NM_001165963.4(SCN1A):c.4852G>C (p.Gly1618Arg)
|
|
|
NM_001165963.4(SCN1A):c.4867G>A (p.Glu1623Lys)
|
|
|
NM_001165963.4(SCN1A):c.4897A>C (p.Thr1633Pro)
|
|
|
NM_001165963.4(SCN1A):c.4900C>G (p.Leu1634Val)
|
rs1211903272
|
|
NM_001165963.4(SCN1A):c.4901T>G (p.Leu1634Arg)
|
|
|
NM_001165963.4(SCN1A):c.4910T>C (p.Val1637Ala)
|
rs121918810
|
|
NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro)
|
rs796053029
|
|
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe)
|
rs1553520463
|
|
NM_001165963.4(SCN1A):c.4919T>A (p.Leu1640His)
|
rs2105434860
|
|
NM_001165963.4(SCN1A):c.4930G>A (p.Gly1644Ser)
|
|
|
NM_001165963.4(SCN1A):c.4940T>C (p.Leu1647Pro)
|
|
|
NM_001165963.4(SCN1A):c.4955G>A (p.Gly1652Glu)
|
rs1573952568
|
|
NM_001165963.4(SCN1A):c.4958C>A (p.Ala1653Glu)
|
rs2105434461
|
|
NM_001165963.4(SCN1A):c.4984_4986del (p.Ala1662del)
|
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.4994T>C (p.Met1665Thr)
|
rs2105433922
|
|
NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val)
|
rs397514458
|
|
NM_001165963.4(SCN1A):c.5012T>C (p.Phe1671Ser)
|
|
|
NM_001165963.4(SCN1A):c.5027T>C (p.Leu1676Pro)
|
|
|
NM_001165963.4(SCN1A):c.502G>A (p.Glu168Lys)
|
rs1553551483
|
|
NM_001165963.4(SCN1A):c.5032T>C (p.Phe1678Leu)
|
|
|
NM_001165963.4(SCN1A):c.5046C>A (p.Phe1682Leu)
|
rs1201126725
|
|
NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser)
|
rs760249153
|
|
NM_001165963.4(SCN1A):c.5053_5054delinsTT (p.Ala1685Phe)
|
rs2105433023
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5068T>C (p.Ser1690Pro)
|
|
|
NM_001165963.4(SCN1A):c.5071A>G (p.Asn1691Asp)
|
|
|
NM_001165963.4(SCN1A):c.5072A>G (p.Asn1691Ser)
|
|
|
NM_001165963.4(SCN1A):c.5074T>A (p.Phe1692Ile)
|
rs1689313945
|
|
NM_001165963.4(SCN1A):c.5074T>G (p.Phe1692Val)
|
rs1689313945
|
|
NM_001165963.4(SCN1A):c.5096T>C (p.Val1699Ala)
|
|
|
NM_001165963.4(SCN1A):c.5099G>A (p.Gly1700Glu)
|
rs1689305230
|
|
NM_001165963.4(SCN1A):c.509T>A (p.Leu170His)
|
|
|
NM_001165963.4(SCN1A):c.5104G>C (p.Asp1702His)
|
|
|
NM_001165963.4(SCN1A):c.5108A>G (p.Asp1703Gly)
|
|
|
NM_001165963.4(SCN1A):c.5112G>A (p.Met1704Ile)
|
rs2105432342
|
|
NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr)
|
rs1553520340
|
|
NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu)
|
rs796053033
|
|
NM_001165963.4(SCN1A):c.5123A>T (p.Glu1708Val)
|
rs2105432174
|
|
NM_001165963.4(SCN1A):c.5125A>G (p.Thr1709Ala)
|
rs1573950349
|
|
NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5128T>G (p.Phe1710Val)
|
|
|
NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser)
|
rs796053098
|
|
NM_001165963.4(SCN1A):c.5143A>T (p.Ile1715Phe)
|
|
|
NM_001165963.4(SCN1A):c.5144T>C (p.Ile1715Thr)
|
|
|
NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met)
|
rs1559104174
|
|
NM_001165963.4(SCN1A):c.5152T>C (p.Phe1718Leu)
|
|
|
NM_001165963.4(SCN1A):c.5155C>G (p.Gln1719Glu)
|
|
|
NM_001165963.4(SCN1A):c.5162C>T (p.Thr1721Ile)
|
|
|
NM_001165963.4(SCN1A):c.5176T>G (p.Trp1726Gly)
|
rs121917979
|
|
NM_001165963.4(SCN1A):c.5183G>C (p.Gly1728Ala)
|
|
|
NM_001165963.4(SCN1A):c.5187G>T (p.Leu1729Phe)
|
rs747155595
|
|
NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro)
|
rs796053100
|
|
NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met)
|
rs1283681963
|
|
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu)
|
rs1553520293
|
|
NM_001165963.4(SCN1A):c.5215C>G (p.Pro1739Ala)
|
|
|
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)
|
rs1689271992
|
|
NM_001165963.4(SCN1A):c.5216C>G (p.Pro1739Arg)
|
rs1689271621
|
|
NM_001165963.4(SCN1A):c.5225A>C (p.Asp1742Ala)
|
rs121918812
|
|
NM_001165963.4(SCN1A):c.5227C>T (p.Pro1743Ser)
|
|
|
NM_001165963.4(SCN1A):c.5235A>G (p.Lys1745=)
|
rs1689266758
|
|
NM_001165963.4(SCN1A):c.5241C>A (p.Asn1747Lys)
|
rs2105430589
|
|
NM_001165963.4(SCN1A):c.5243C>G (p.Pro1748Arg)
|
rs1689265965
|
|
NM_001165963.4(SCN1A):c.5249G>A (p.Ser1750Asn)
|
|
|
NM_001165963.4(SCN1A):c.5255T>G (p.Val1752Gly)
|
|
|
NM_001165963.4(SCN1A):c.5276C>T (p.Pro1759Leu)
|
|
|
NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro)
|
|
|
NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala)
|
rs1057518252
|
|
NM_001165963.4(SCN1A):c.5305T>C (p.Tyr1769His)
|
|
|
NM_001165963.4(SCN1A):c.5306A>C (p.Tyr1769Ser)
|
rs886039460
|
|
NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met)
|
|
|
NM_001165963.4(SCN1A):c.5329G>A (p.Val1777Met)
|
|
|
NM_001165963.4(SCN1A):c.532T>C (p.Phe178Leu)
|
|
|
NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala)
|
rs1689245014
|
|
NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp)
|
rs794727416
|
|
NM_001165963.4(SCN1A):c.533T>C (p.Phe178Ser)
|
rs1698951764
|
|
NM_001165963.4(SCN1A):c.5344A>C (p.Ile1782Leu)
|
rs1689240616
|
|
NM_001165963.4(SCN1A):c.5350G>C (p.Val1784Leu)
|
|
|
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5353A>T (p.Ile1785Phe)
|
rs1689237157
|
|
NM_001165963.4(SCN1A):c.5359G>C (p.Glu1787Gln)
|
rs121917916
|
|
NM_001165963.4(SCN1A):c.5371G>T (p.Val1791Phe)
|
rs2105428742
|
|
NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile)
|
|
|
NM_001165963.4(SCN1A):c.5392G>A (p.Glu1798Lys)
|
rs1689226880
|
|
NM_001165963.4(SCN1A):c.5395C>T (p.Pro1799Ser)
|
|
|
NM_001165963.4(SCN1A):c.5396C>A (p.Pro1799His)
|
rs1689226274
|
|
NM_001165963.4(SCN1A):c.5396C>G (p.Pro1799Arg)
|
rs1689226274
|
|
NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys)
|
rs794726780
|
|
NM_001165963.4(SCN1A):c.5410G>A (p.Asp1804Asn)
|
rs2105428229
|
|
NM_001165963.4(SCN1A):c.5412C>A (p.Asp1804Glu)
|
|
|
NM_001165963.4(SCN1A):c.5414T>C (p.Phe1805Ser)
|
rs1689222238
|
|
NM_001165963.4(SCN1A):c.541G>A (p.Glu181Lys)
|
|
|
NM_001165963.4(SCN1A):c.5428G>A (p.Glu1810Lys)
|
rs1218205706
|
|
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly)
|
rs1559245947
|
|
NM_001165963.4(SCN1A):c.5430G>T (p.Glu1810Asp)
|
|
|
NM_001165963.4(SCN1A):c.5435G>C (p.Trp1812Ser)
|
rs796053040
|
|
NM_001165963.4(SCN1A):c.5440_5442del (p.Lys1814del)
|
rs2105427845
|
|
NM_001165963.4(SCN1A):c.5448T>A (p.Asp1816Glu)
|
|
|
NM_001165963.4(SCN1A):c.5450C>A (p.Pro1817His)
|
|
|
NM_001165963.4(SCN1A):c.5455G>A (p.Ala1819Thr)
|
|
|
NM_001165963.4(SCN1A):c.5456C>G (p.Ala1819Gly)
|
|
|
NM_001165963.4(SCN1A):c.5459C>T (p.Thr1820Ile)
|
|
|
NM_001165963.4(SCN1A):c.5461C>A (p.Gln1821Lys)
|
|
|
NM_001165963.4(SCN1A):c.5474T>G (p.Phe1825Cys)
|
rs749198402
|
|
NM_001165963.4(SCN1A):c.5486C>G (p.Ser1829Cys)
|
rs2105427253
|
|
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5494G>T (p.Ala1832Ser)
|
rs2105427084
|
|
NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala)
|
|
|
NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile)
|
rs1698949011
|
|
NM_001165963.4(SCN1A):c.5522T>C (p.Leu1841Pro)
|
rs2105426709
|
|
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr)
|
rs1689190343
|
|
NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu)
|
rs372098964
|
|
NM_001165963.4(SCN1A):c.5551G>T (p.Ala1851Ser)
|
rs1689185359
|
|
NM_001165963.4(SCN1A):c.5561T>C (p.Leu1854Ser)
|
rs2105426177
|
|
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser)
|
rs794727415
|
|
NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr)
|
rs796053041
|
|
NM_001165963.4(SCN1A):c.5576G>C (p.Gly1859Ala)
|
rs2105425879
|
|
NM_001165963.4(SCN1A):c.5579A>C (p.Asp1860Ala)
|
rs1689179203
|
|
NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser)
|
|
|
NM_001165963.4(SCN1A):c.5599A>G (p.Ile1867Val)
|
|
|
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln)
|
rs148703212
|
|
NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn)
|
rs1573944260
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.5636G>A (p.Ser1879Asn)
|
|
|
NM_001165963.4(SCN1A):c.5639G>C (p.Gly1880Ala)
|
rs201905405
|
|
NM_001165963.4(SCN1A):c.5645T>C (p.Met1882Thr)
|
|
|
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala)
|
rs886055046
|
|
NM_001165963.4(SCN1A):c.5666T>C (p.Met1889Thr)
|
rs1197551054
|
|
NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg)
|
rs1197551054
|
|
NM_001165963.4(SCN1A):c.5675G>A (p.Arg1892Gln)
|
rs2105424575
|
|
NM_001165963.4(SCN1A):c.5675G>T (p.Arg1892Leu)
|
rs2105424575
|
|
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)
|
rs562208324
|
|
NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp)
|
rs1039777371
|
|
NM_001165963.4(SCN1A):c.5699A>G (p.Lys1900Arg)
|
|
|
NM_001165963.4(SCN1A):c.56G>A (p.Arg19Lys)
|
rs1479913332
|
|
NM_001165963.4(SCN1A):c.5704T>C (p.Ser1902Pro)
|
|
|
NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val)
|
rs1689151041
|
|
NM_001165963.4(SCN1A):c.5717T>A (p.Ile1906Asn)
|
rs1689150507
|
|
NM_001165963.4(SCN1A):c.5731A>G (p.Lys1911Glu)
|
rs1553519896
|
|
NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg)
|
|
|
NM_001165963.4(SCN1A):c.5753C>A (p.Ser1918Tyr)
|
rs796053048
|
|
NM_001165963.4(SCN1A):c.5761A>T (p.Ile1921Phe)
|
|
|
NM_001165963.4(SCN1A):c.5770C>T (p.Arg1924Cys)
|
|
|
NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr)
|
|
|
NM_001165963.4(SCN1A):c.5782C>A (p.Arg1928Ser)
|
rs121917956
|
|
NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys)
|
rs121917956
|
|
NM_001165963.4(SCN1A):c.5786A>G (p.His1929Arg)
|
|
|
NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln)
|
rs371253263
|
|
NM_001165963.4(SCN1A):c.5789T>C (p.Leu1930Pro)
|
rs1689133956
|
|
NM_001165963.4(SCN1A):c.5792T>C (p.Leu1931Ser)
|
|
|
NM_001165963.4(SCN1A):c.5795del (p.Lys1932fs)
|
|
|
NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter)
|
rs1351809843
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|
NM_001165963.4(SCN1A):c.5798G>C (p.Arg1933Pro)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu)
|
rs556893466
|
|
NM_001165963.4(SCN1A):c.5804T>C (p.Val1935Ala)
|
rs1559099002
|
|
NM_001165963.4(SCN1A):c.5819T>A (p.Phe1940Tyr)
|
|
|
NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys)
|
rs756845310
|
|
NM_001165963.4(SCN1A):c.5845G>T (p.Gly1949Cys)
|
rs1216022727
|
|
NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro)
|
rs376656165
|
|
NM_001165963.4(SCN1A):c.5855A>T (p.Asn1952Ile)
|
|
|
NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)
|
rs1553519782
|
|
NM_001165963.4(SCN1A):c.5860C>T (p.Leu1954Phe)
|
rs1573941131
|
|
NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val)
|
|
|
NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met)
|
rs796052952
|
|
NM_001165963.4(SCN1A):c.5869G>C (p.Glu1957Gln)
|
rs1553519769
|
|
NM_001165963.4(SCN1A):c.5872G>A (p.Asp1958Asn)
|
|
|
NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)
|
|
|
NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr)
|
rs760676898
|
|
NM_001165963.4(SCN1A):c.5885A>G (p.Asp1962Gly)
|
rs1689109230
|
|
NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr)
|
|
|
NM_001165963.4(SCN1A):c.5905_5908dup (p.Thr1970fs)
|
|
|
NM_001165963.4(SCN1A):c.5929A>G (p.Met1977Val)
|
|
|
NM_001165963.4(SCN1A):c.592A>G (p.Ile198Val)
|
|
|
NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr)
|
rs1553519733
|
|
NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe)
|
|
|
NM_001165963.4(SCN1A):c.5942C>A (p.Ala1981Asp)
|
rs148986284
|
|
NM_001165963.4(SCN1A):c.5957A>G (p.Tyr1986Cys)
|
rs1689099998
|
|
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)
|
rs756519197
|
|
NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile)
|
rs121917983
|
|
NM_001165963.4(SCN1A):c.5971A>G (p.Lys1991Glu)
|
rs755419624
|
|
NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)
|
|
|
NM_001165963.4(SCN1A):c.5983G>C (p.Glu1995Gln)
|
|
|
NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys)
|
|
|
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln)
|
rs886055041
|
|
NM_001165963.4(SCN1A):c.6006_6008del (p.Lys2002_Asp2003delinsAsn)
|
rs1689085952
|
|
NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu)
|
rs761426364
|
|
NM_001165963.4(SCN1A):c.602+5G>A
|
|
|
NM_001165963.4(SCN1A):c.603-17_603-12delinsACGTA
|
|
|
NM_001165963.4(SCN1A):c.603G>A (p.Ala201=)
|
|
|
NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys)
|
|
|
NM_001165963.4(SCN1A):c.622G>A (p.Asp208Asn)
|
rs1698748633
|
|
NM_001165963.4(SCN1A):c.632A>C (p.Asn211Thr)
|
rs1553550618
|
|
NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser)
|
rs1553550618
|
|
NM_001165963.4(SCN1A):c.640G>A (p.Ala214Thr)
|
rs1574272597
|
|
NM_001165963.4(SCN1A):c.662_663delinsAT (p.Leu221His)
|
|
|
NM_001165963.4(SCN1A):c.664C>G (p.Arg222Gly)
|
|
|
NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu)
|
rs1698732758
|
|
NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu)
|
rs139397227
|
|
NM_001165963.4(SCN1A):c.692C>T (p.Pro231Leu)
|
rs1574271532
|
|
NM_001165963.4(SCN1A):c.694+3G>A
|
|
|
NM_001165963.4(SCN1A):c.695G>A (p.Gly232Asp)
|
|
|
NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu)
|
rs1553549993
|
|
NM_001165963.4(SCN1A):c.709G>A (p.Val237Met)
|
|
|
NM_001165963.4(SCN1A):c.713G>T (p.Gly238Val)
|
rs1574266490
|
|
NM_001165963.4(SCN1A):c.71C>G (p.Ala24Gly)
|
rs1489662325
|
|
NM_001165963.4(SCN1A):c.725A>T (p.Gln242Leu)
|
rs1574266328
|
|
NM_001165963.4(SCN1A):c.749T>C (p.Val250Ala)
|
|
|
NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg)
|
|
|
NM_001165963.4(SCN1A):c.7C>A (p.Gln3Lys)
|
rs924198007
|
|
NM_001165963.4(SCN1A):c.809T>C (p.Met270Thr)
|
rs1444023925
|
|
NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile)
|
rs2105889888
|
|
NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys)
|
rs2105889740
|
|
NM_001165963.4(SCN1A):c.833T>C (p.Ile278Thr)
|
rs1559238215
|
|
NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met)
|
|
|
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser)
|
rs1553549660
|
|
NM_001165963.4(SCN1A):c.845C>A (p.Pro282His)
|
rs1698591690
|
|
NM_001165963.4(SCN1A):c.861G>C (p.Leu287Phe)
|
rs568461410
|
|
NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr)
|
rs773935383
|
|
NM_001165963.4(SCN1A):c.871A>G (p.Ser291Gly)
|
rs2105889285
|
|
NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met)
|
|
|
NM_001165963.4(SCN1A):c.882G>T (p.Lys294Asn)
|
rs2105889139
|
|
NM_001165963.4(SCN1A):c.901A>G (p.Asn301Asp)
|
|
|
NM_001165963.4(SCN1A):c.905G>T (p.Gly302Val)
|
|
|
NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys)
|
|
|
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del)
|
rs2105888808
|
|
NM_001165963.4(SCN1A):c.947_952dup (p.Tyr317_Ile318insThrTyr)
|
|
|
NM_001165963.4(SCN1A):c.94G>A (p.Glu32Lys)
|
|
|
NM_001165963.4(SCN1A):c.956A>G (p.Gln319Arg)
|
rs2105888544
|
|
NM_001165963.4(SCN1A):c.958G>T (p.Asp320Tyr)
|
rs777317949
|
|
NM_001165963.4(SCN1A):c.964+4A>T
|
|
|
NM_001165963.4(SCN1A):c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA
|
|
|
NM_001165963.4(SCN1A):c.965-3C>A
|
rs1698197579
|
|
NM_001165963.4(SCN1A):c.967T>A (p.Tyr323Asn)
|
rs2105874638
|
|
NM_001165963.4(SCN1A):c.971A>G (p.His324Arg)
|
rs796053093
|
|
NM_001165963.4(SCN1A):c.985G>A (p.Gly329Ser)
|
rs781746113
|
|
NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly)
|
rs796052969
|
|
NM_001191061.2(SLC25A22):c.116A>G (p.Gln39Arg)
|
rs1354157440
|
|
NM_001191061.2(SLC25A22):c.124G>T (p.Gly42Cys)
|
rs535927522
|
|
NM_001191061.2(SLC25A22):c.131G>A (p.Arg44His)
|
|
|
NM_001191061.2(SLC25A22):c.131G>T (p.Arg44Leu)
|
rs774588138
|
|
NM_001191061.2(SLC25A22):c.139A>G (p.Thr47Ala)
|
rs2133712970
|
|
NM_001191061.2(SLC25A22):c.140C>A (p.Thr47Lys)
|
rs142220309
|
|
NM_001191061.2(SLC25A22):c.140C>G (p.Thr47Arg)
|
|
|
NM_001191061.2(SLC25A22):c.147-3C>T
|
|
|
NM_001191061.2(SLC25A22):c.147-7del
|
|
|
NM_001191061.2(SLC25A22):c.149C>A (p.Ser50Tyr)
|
rs1311121982
|
|
NM_001191061.2(SLC25A22):c.154T>G (p.Cys52Gly)
|
rs2133711227
|
|
NM_001191061.2(SLC25A22):c.169G>C (p.Val57Leu)
|
|
|
NM_001191061.2(SLC25A22):c.197A>G (p.Tyr66Cys)
|
rs2133710794
|
|
NM_001191061.2(SLC25A22):c.20+5G>A
|
rs1864728028
|
|
NM_001191061.2(SLC25A22):c.21-11del
|
|
|
NM_001191061.2(SLC25A22):c.21-3C>T
|
rs794727518
|
|
NM_001191061.2(SLC25A22):c.221C>T (p.Thr74Ile)
|
|
|
NM_001191061.2(SLC25A22):c.235G>A (p.Glu79Lys)
|
rs1215087087
|
|
NM_001191061.2(SLC25A22):c.254C>A (p.Ala85Glu)
|
rs1060502507
|
|
NM_001191061.2(SLC25A22):c.263A>G (p.Asp88Gly)
|
rs2133706338
|
|
NM_001191061.2(SLC25A22):c.274C>T (p.His92Tyr)
|
rs2133706277
|
|
NM_001191061.2(SLC25A22):c.289G>A (p.Asp97Asn)
|
rs2133706158
|
|
NM_001191061.2(SLC25A22):c.293+3G>A
|
rs771032620
|
|
NM_001191061.2(SLC25A22):c.294-3C>A
|
|
|
NM_001191061.2(SLC25A22):c.29C>T (p.Ala10Val)
|
|
|
NM_001191061.2(SLC25A22):c.310C>T (p.Leu104Phe)
|
rs2133703943
|
|
NM_001191061.2(SLC25A22):c.319A>G (p.Met107Val)
|
rs1032909804
|
|
NM_001191061.2(SLC25A22):c.321G>C (p.Met107Ile)
|
|
|
NM_001191061.2(SLC25A22):c.326C>A (p.Ala109Glu)
|
rs1565037173
|
|
NM_001191061.2(SLC25A22):c.344C>T (p.Thr115Ile)
|
rs1565037117
|
|
NM_001191061.2(SLC25A22):c.365C>T (p.Thr122Met)
|
rs778373047
|
|
NM_001191061.2(SLC25A22):c.371T>C (p.Met124Thr)
|
|
|
NM_001191061.2(SLC25A22):c.378G>A (p.Met126Ile)
|
rs756469889
|
|
NM_001191061.2(SLC25A22):c.385A>G (p.Ile129Val)
|
|
|
NM_001191061.2(SLC25A22):c.392T>C (p.Leu131Pro)
|
rs1864613507
|
|
NM_001191061.2(SLC25A22):c.401C>T (p.Ala134Val)
|
rs886048697
|
|
NM_001191061.2(SLC25A22):c.406C>T (p.Arg136Cys)
|
rs758107712
|
|
NM_001191061.2(SLC25A22):c.407G>T (p.Arg136Leu)
|
rs1248128712
|
|
NM_001191061.2(SLC25A22):c.409A>G (p.Ile137Val)
|
rs1484690169
|
|
NM_001191061.2(SLC25A22):c.40A>G (p.Asn14Asp)
|
|
|
NM_001191061.2(SLC25A22):c.412+3G>C
|
rs1565036894
|
|
NM_001191061.2(SLC25A22):c.412+5G>A
|
|
|
NM_001191061.2(SLC25A22):c.415G>T (p.Ala139Ser)
|
rs544386351
|
|
NM_001191061.2(SLC25A22):c.425A>G (p.Lys142Arg)
|
rs2133701999
|
|
NM_001191061.2(SLC25A22):c.430C>G (p.Leu144Val)
|
|
|
NM_001191061.2(SLC25A22):c.479T>C (p.Val160Ala)
|
|
|
NM_001191061.2(SLC25A22):c.482A>G (p.Glu161Gly)
|
|
|
NM_001191061.2(SLC25A22):c.483G>C (p.Glu161Asp)
|
rs2133701499
|
|
NM_001191061.2(SLC25A22):c.496C>T (p.Pro166Ser)
|
rs11549717
|
|
NM_001191061.2(SLC25A22):c.506C>A (p.Thr169Lys)
|
rs533726078
|
|
NM_001191061.2(SLC25A22):c.523C>T (p.Arg175Cys)
|
|
|
NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His)
|
rs769329043
|
|
NM_001191061.2(SLC25A22):c.524G>T (p.Arg175Leu)
|
rs769329043
|
|
NM_001191061.2(SLC25A22):c.52G>A (p.Ala18Thr)
|
|
|
NM_001191061.2(SLC25A22):c.541C>G (p.Arg181Gly)
|
rs374216522
|
|
NM_001191061.2(SLC25A22):c.546C>T (p.Gly182=)
|
rs1590118467
|
|
NM_001191061.2(SLC25A22):c.551C>T (p.Ala184Val)
|
|
|
NM_001191061.2(SLC25A22):c.556C>T (p.Leu186Phe)
|
rs1363497671
|
|
NM_001191061.2(SLC25A22):c.578C>A (p.Thr193Lys)
|
rs770357560
|
|
NM_001191061.2(SLC25A22):c.587+5G>A
|
rs779326525
|
|
NM_001191061.2(SLC25A22):c.658G>A (p.Glu220Lys)
|
|
|
NM_001191061.2(SLC25A22):c.730_735dup (p.Asn244_Pro245dup)
|
rs2133699233
|
|
NM_001191061.2(SLC25A22):c.733C>T (p.Pro245Ser)
|
|
|
NM_001191061.2(SLC25A22):c.734C>G (p.Pro245Arg)
|
|
|
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)
|
rs1388811021
|
|
NM_001191061.2(SLC25A22):c.757C>G (p.Leu253Val)
|
rs1565035315
|
|
NM_001191061.2(SLC25A22):c.757C>T (p.Leu253Phe)
|
rs1565035315
|
|
NM_001191061.2(SLC25A22):c.76G>A (p.Val26Met)
|
rs759144900
|
|
NM_001191061.2(SLC25A22):c.779_783dup (p.Glu262fs)
|
rs2133698597
|
|
NM_001191061.2(SLC25A22):c.788A>C (p.Asp263Ala)
|
rs1565035226
|
|
NM_001191061.2(SLC25A22):c.808G>C (p.Asp270His)
|
rs1864556372
|
|
NM_001191061.2(SLC25A22):c.818+3G>A
|
rs1590117588
|
|
NM_001191061.2(SLC25A22):c.836A>G (p.Glu279Gly)
|
rs2133697920
|
|
NM_001191061.2(SLC25A22):c.83C>T (p.Pro28Leu)
|
rs1306343660
|
|
NM_001191061.2(SLC25A22):c.862G>A (p.Ala288Thr)
|
|
|
NM_001191061.2(SLC25A22):c.869G>A (p.Cys290Tyr)
|
rs2133697677
|
|
NM_001191061.2(SLC25A22):c.872G>A (p.Arg291His)
|
|
|
NM_001191061.2(SLC25A22):c.880G>C (p.Val294Leu)
|
rs1864546889
|
|
NM_001191061.2(SLC25A22):c.883A>G (p.Ile295Val)
|
rs1554965292
|
|
NM_001191061.2(SLC25A22):c.887C>T (p.Ala296Val)
|
rs1565034826
|
|
NM_001191061.2(SLC25A22):c.88G>A (p.Asp30Asn)
|
rs766399962
|
|
NM_001191061.2(SLC25A22):c.899G>T (p.Gly300Val)
|
|
|
NM_001191061.2(SLC25A22):c.900C>T (p.Gly300=)
|
rs1057522422
|
|
NM_001191061.2(SLC25A22):c.926G>A (p.Gly309Asp)
|
|
|
NM_001191061.2(SLC25A22):c.929T>C (p.Ile310Thr)
|
rs2133697146
|
|
NM_001191061.2(SLC25A22):c.955del (p.Gln319fs)
|
rs1864541864
|
|
NM_001191061.2(SLC25A22):c.965A>G (p.Gln322Arg)
|
rs1357296463
|
|
NM_001330260.2(SCN8A):c.100C>T (p.Leu34Phe)
|
rs1940952445
|
|
NM_001330260.2(SCN8A):c.1014G>T (p.Gln338His)
|
|
|
NM_001330260.2(SCN8A):c.1020G>A (p.Met340Ile)
|
|
|
NM_001330260.2(SCN8A):c.1080C>G (p.Phe360Leu)
|
rs1941714033
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.10C>T (p.Arg4Trp)
|
rs1940949996
|
|
NM_001330260.2(SCN8A):c.1101G>A (p.Met367Ile)
|
rs1555219147
|
|
NM_001330260.2(SCN8A):c.1125G>T (p.Leu375Phe)
|
|
|
NM_001330260.2(SCN8A):c.1174G>A (p.Val392Ile)
|
|
|
NM_001330260.2(SCN8A):c.117G>C (p.Lys39Asn)
|
rs1940953152
|
|
NM_001330260.2(SCN8A):c.1193G>C (p.Gly398Ala)
|
rs1941767862
|
|
NM_001330260.2(SCN8A):c.119C>T (p.Ala40Val)
|
rs2138671122
|
|
NM_001330260.2(SCN8A):c.1200C>G (p.Phe400Leu)
|
rs2138748176
|
|
NM_001330260.2(SCN8A):c.1229T>C (p.Val410Ala)
|
rs2138748264
|
|
NM_001330260.2(SCN8A):c.1241A>T (p.Tyr414Phe)
|
rs794727000
|
|
NM_001330260.2(SCN8A):c.1243G>A (p.Glu415Lys)
|
rs1555219509
|
|
NM_001330260.2(SCN8A):c.1252A>G (p.Asn418Asp)
|
rs1941769135
|
|
NM_001330260.2(SCN8A):c.1265T>A (p.Leu422Gln)
|
|
|
NM_001330260.2(SCN8A):c.1319A>G (p.Lys440Arg)
|
rs1003938127
|
|
NM_001330260.2(SCN8A):c.1341+4G>A
|
|
|
NM_001330260.2(SCN8A):c.1342-18C>G
|
|
|
NM_001330260.2(SCN8A):c.1367G>A (p.Gly456Glu)
|
rs1592393570
|
|
NM_001330260.2(SCN8A):c.1382A>T (p.Asp461Val)
|
|
|
NM_001330260.2(SCN8A):c.1387A>G (p.Ile463Val)
|
|
|
NM_001330260.2(SCN8A):c.1390G>A (p.Glu464Lys)
|
|
|
NM_001330260.2(SCN8A):c.1393G>A (p.Glu465Lys)
|
|
|
NM_001330260.2(SCN8A):c.1400G>C (p.Gly467Ala)
|
rs1398266993
|
|
NM_001330260.2(SCN8A):c.1401_1409del (p.465EEG[1])
|
|
|
NM_001330260.2(SCN8A):c.1406A>G (p.Glu469Gly)
|
|
|
NM_001330260.2(SCN8A):c.1414G>T (p.Gly472Cys)
|
rs1298177137
|
|
NM_001330260.2(SCN8A):c.1415G>A (p.Gly472Asp)
|
rs758546871
|
|
NM_001330260.2(SCN8A):c.1420C>T (p.Pro474Ser)
|
rs1160066733
|
|
NM_001330260.2(SCN8A):c.1421C>T (p.Pro474Leu)
|
|
|
NM_001330260.2(SCN8A):c.1426A>C (p.Ser476Arg)
|
rs1060501008
|
|
NM_001330260.2(SCN8A):c.142G>A (p.Asp48Asn)
|
rs757582223
|
|
NM_001330260.2(SCN8A):c.1447C>G (p.Leu483Val)
|
|
|
NM_001330260.2(SCN8A):c.1447C>T (p.Leu483Phe)
|
|
|
NM_001330260.2(SCN8A):c.1468G>C (p.Glu490Gln)
|
rs1555219752
|
|
NM_001330260.2(SCN8A):c.1474C>A (p.Arg492Ser)
|
|
|
NM_001330260.2(SCN8A):c.1493G>C (p.Arg498Thr)
|
rs1941788258
|
|
NM_001330260.2(SCN8A):c.1507C>T (p.Leu503Phe)
|
|
|
NM_001330260.2(SCN8A):c.1520A>C (p.Glu507Ala)
|
rs371383623
|
|
NM_001330260.2(SCN8A):c.1541A>G (p.Lys514Arg)
|
rs1592393860
|
|
NM_001330260.2(SCN8A):c.1570A>G (p.Met524Val)
|
rs886042925
|
|
NM_001330260.2(SCN8A):c.1571T>C (p.Met524Thr)
|
rs2138750677
|
|
NM_001330260.2(SCN8A):c.1572G>T (p.Met524Ile)
|
|
|
NM_001330260.2(SCN8A):c.157C>T (p.Pro53Ser)
|
rs1940954610
|
|
NM_001330260.2(SCN8A):c.1580A>G (p.Lys527Arg)
|
|
|
NM_001330260.2(SCN8A):c.1581G>T (p.Lys527Asn)
|
|
|
NM_001330260.2(SCN8A):c.1583C>A (p.Ala528Asp)
|
|
|
NM_001330260.2(SCN8A):c.158C>G (p.Pro53Arg)
|
rs1057524711
|
|
NM_001330260.2(SCN8A):c.1598A>G (p.Asp533Gly)
|
|
|
NM_001330260.2(SCN8A):c.1613G>A (p.Arg538Lys)
|
rs1057518528
|
|
NM_001330260.2(SCN8A):c.1635+3_1635+7del
|
|
|
NM_001330260.2(SCN8A):c.1635+5A>T
|
|
|
NM_001330260.2(SCN8A):c.1637C>T (p.Ser546Leu)
|
|
|
NM_001330260.2(SCN8A):c.1655G>C (p.Gly552Ala)
|
rs957905474
|
|
NM_001330260.2(SCN8A):c.1657T>C (p.Ser553Pro)
|
rs2138782066
|
|
NM_001330260.2(SCN8A):c.1666C>T (p.Leu556Phe)
|
|
|
NM_001330260.2(SCN8A):c.1670C>G (p.Ser557Cys)
|
|
|
NM_001330260.2(SCN8A):c.1672C>T (p.Arg558Cys)
|
|
|
NM_001330260.2(SCN8A):c.1687A>G (p.Ser563Gly)
|
rs1565899709
|
|
NM_001330260.2(SCN8A):c.1691G>A (p.Ser564Asn)
|
rs1592405696
|
|
NM_001330260.2(SCN8A):c.1695C>G (p.Ile565Met)
|
rs1239406541
|
|
NM_001330260.2(SCN8A):c.1715G>A (p.Gly572Glu)
|
rs1085307867
|
|
NM_001330260.2(SCN8A):c.1717C>T (p.Arg573Trp)
|
rs370074236
|
|
NM_001330260.2(SCN8A):c.1721T>G (p.Phe574Cys)
|
|
|
NM_001330260.2(SCN8A):c.1722C>G (p.Phe574Leu)
|
|
|
NM_001330260.2(SCN8A):c.1730C>A (p.Pro577Gln)
|
rs373820887
|
|
NM_001330260.2(SCN8A):c.1774GAG[1] (p.Glu593del)
|
rs1942065333
|
|
NM_001330260.2(SCN8A):c.1787G>A (p.Gly596Asp)
|
rs879267224
|
|
NM_001330260.2(SCN8A):c.1810C>A (p.Pro604Thr)
|
|
|
NM_001330260.2(SCN8A):c.1814T>A (p.Ile605Asn)
|
|
|
NM_001330260.2(SCN8A):c.1822C>T (p.Arg608Cys)
|
|
|
NM_001330260.2(SCN8A):c.1823G>A (p.Arg608His)
|
rs371644624
|
|
NM_001330260.2(SCN8A):c.1825G>A (p.Glu609Lys)
|
|
|
NM_001330260.2(SCN8A):c.1832G>C (p.Arg611Pro)
|
rs866054004
|
|
NM_001330260.2(SCN8A):c.1837_1845del (p.Ser613_Ser615del)
|
|
|
NM_001330260.2(SCN8A):c.1841A>G (p.Tyr614Cys)
|
|
|
NM_001330260.2(SCN8A):c.1846GGCTACAGC[3] (p.616GYS[3])
|
rs758276968
|
|
NM_001330260.2(SCN8A):c.1849T>C (p.Tyr617His)
|
rs773608650
|
|
NM_001330260.2(SCN8A):c.1873C>A (p.Arg625Ser)
|
rs912580884
|
|
NM_001330260.2(SCN8A):c.1876T>A (p.Ser626Thr)
|
|
|
NM_001330260.2(SCN8A):c.1883G>T (p.Arg628Leu)
|
|
|
NM_001330260.2(SCN8A):c.1885A>G (p.Ile629Val)
|
|
|
NM_001330260.2(SCN8A):c.1886T>C (p.Ile629Thr)
|
rs2138782988
|
|
NM_001330260.2(SCN8A):c.1896C>A (p.Ser632Arg)
|
|
|
NM_001330260.2(SCN8A):c.1901G>T (p.Arg634Leu)
|
|
|
NM_001330260.2(SCN8A):c.1903C>T (p.Arg635Cys)
|
|
|
NM_001330260.2(SCN8A):c.1906A>G (p.Ser636Gly)
|
|
|
NM_001330260.2(SCN8A):c.1908C>G (p.Ser636Arg)
|
|
|
NM_001330260.2(SCN8A):c.1916G>A (p.Arg639His)
|
|
|
NM_001330260.2(SCN8A):c.1918A>G (p.Asn640Asp)
|
rs2138783101
|
|
NM_001330260.2(SCN8A):c.1919A>C (p.Asn640Thr)
|
rs1332024650
|
|
NM_001330260.2(SCN8A):c.191G>A (p.Ser64Asn)
|
|
|
NM_001330260.2(SCN8A):c.1925C>T (p.Thr642Met)
|
|
|
NM_001330260.2(SCN8A):c.1928T>C (p.Val643Ala)
|
|
|
NM_001330260.2(SCN8A):c.1937A>G (p.Asn646Ser)
|
rs1565900032
|
|
NM_001330260.2(SCN8A):c.1938C>A (p.Asn646Lys)
|
rs186183096
|
|
NM_001330260.2(SCN8A):c.1939G>A (p.Gly647Ser)
|
|
|
NM_001330260.2(SCN8A):c.1940G>C (p.Gly647Ala)
|
|
|
NM_001330260.2(SCN8A):c.1942G>C (p.Val648Leu)
|
|
|
NM_001330260.2(SCN8A):c.1952_1972dup (p.Leu651_Ser657dup)
|
rs1942071890
|
|
NM_001330260.2(SCN8A):c.1954A>T (p.Ile652Phe)
|
|
|
NM_001330260.2(SCN8A):c.1954_1959dup (p.Gly653_Gly654insIleGly)
|
|
|
NM_001330260.2(SCN8A):c.1957G>A (p.Gly653Ser)
|
rs1020814791
|
|
NM_001330260.2(SCN8A):c.1962_1982dup (p.Pro655_Gly661dup)
|
rs768554772
|
|
NM_001330260.2(SCN8A):c.1963C>T (p.Pro655Ser)
|
rs954650071
|
|
NM_001330260.2(SCN8A):c.1966G>A (p.Gly656Ser)
|
|
|
NM_001330260.2(SCN8A):c.1969T>C (p.Ser657Pro)
|
rs1429377869
|
|
NM_001330260.2(SCN8A):c.1970C>G (p.Ser657Cys)
|
|
|
NM_001330260.2(SCN8A):c.1973A>C (p.His658Pro)
|
|
|
NM_001330260.2(SCN8A):c.1973A>G (p.His658Arg)
|
|
|
NM_001330260.2(SCN8A):c.1975A>G (p.Ile659Val)
|
|
|
NM_001330260.2(SCN8A):c.1985G>A (p.Arg662His)
|
|
|
NM_001330260.2(SCN8A):c.1985G>T (p.Arg662Leu)
|
rs776013286
|
|
NM_001330260.2(SCN8A):c.1995A>G (p.Pro665=)
|
rs1231370273
|
|
NM_001330260.2(SCN8A):c.1998+11A>G
|
|
|
NM_001330260.2(SCN8A):c.1998+17C>T
|
|
|
NM_001330260.2(SCN8A):c.2005A>G (p.Thr669Ala)
|
|
|
NM_001330260.2(SCN8A):c.2010G>C (p.Glu670Asp)
|
|
|
NM_001330260.2(SCN8A):c.2024A>G (p.Lys675Arg)
|
|
|
NM_001330260.2(SCN8A):c.202A>G (p.Ile68Val)
|
rs797045945
|
|
NM_001330260.2(SCN8A):c.2044T>G (p.Leu682Val)
|
|
|
NM_001330260.2(SCN8A):c.2056G>T (p.Asp686Tyr)
|
rs373073046
|
|
NM_001330260.2(SCN8A):c.2059C>G (p.Gln687Glu)
|
rs2138828768
|
|
NM_001330260.2(SCN8A):c.2060A>G (p.Gln687Arg)
|
|
|
NM_001330260.2(SCN8A):c.2062T>A (p.Leu688Ile)
|
|
|
NM_001330260.2(SCN8A):c.2069C>T (p.Ser690Phe)
|
|
|
NM_001330260.2(SCN8A):c.2072A>G (p.Tyr691Cys)
|
rs2138828814
|
|
NM_001330260.2(SCN8A):c.2078G>A (p.Arg693Gln)
|
|
|
NM_001330260.2(SCN8A):c.2080A>G (p.Lys694Glu)
|
|
|
NM_001330260.2(SCN8A):c.2098A>G (p.Ile700Val)
|
rs187153231
|
|
NM_001330260.2(SCN8A):c.2107G>A (p.Val703Ile)
|
rs1592140302
|
|
NM_001330260.2(SCN8A):c.2110G>C (p.Val704Leu)
|
|
|
NM_001330260.2(SCN8A):c.2131+3A>G
|
rs1942506871
|
|
NM_001330260.2(SCN8A):c.2131+4T>A
|
rs2138829043
|
|
NM_001330260.2(SCN8A):c.2132-13T>C
|
|
|
NM_001330260.2(SCN8A):c.213C>A (p.Asp71Glu)
|
rs888638528
|
|
NM_001330260.2(SCN8A):c.2153A>G (p.Lys718Arg)
|
rs1355556670
|
|
NM_001330260.2(SCN8A):c.2166C>G (p.Cys722Trp)
|
rs1555224370
|
|
NM_001330260.2(SCN8A):c.2171A>G (p.Tyr724Cys)
|
rs1592142754
|
|
NM_001330260.2(SCN8A):c.2174A>G (p.Lys725Arg)
|
|
|
NM_001330260.2(SCN8A):c.2174A>T (p.Lys725Ile)
|
|
|
NM_001330260.2(SCN8A):c.217C>T (p.Pro73Ser)
|
|
|
NM_001330260.2(SCN8A):c.2185A>C (p.Thr729Pro)
|
rs1942592830
|
|
NM_001330260.2(SCN8A):c.2186C>G (p.Thr729Ser)
|
|
|
NM_001330260.2(SCN8A):c.2188T>C (p.Phe730Leu)
|
rs923938885
|
|
NM_001330260.2(SCN8A):c.218C>T (p.Pro73Leu)
|
rs1592363476
|
|
NM_001330260.2(SCN8A):c.2194A>G (p.Ile732Val)
|
rs1375877011
|
|
NM_001330260.2(SCN8A):c.222A>G (p.Gln74=)
|
rs2138671415
|
|
NM_001330260.2(SCN8A):c.2245A>G (p.Ile749Val)
|
rs1331549282
|
|
NM_001330260.2(SCN8A):c.2251A>G (p.Met751Val)
|
rs1565910814
|
|
NM_001330260.2(SCN8A):c.2252T>C (p.Met751Thr)
|
|
|
NM_001330260.2(SCN8A):c.2263G>C (p.Val755Leu)
|
rs2138838632
|
|
NM_001330260.2(SCN8A):c.2291T>C (p.Val764Ala)
|
|
|
NM_001330260.2(SCN8A):c.2320C>T (p.His774Tyr)
|
rs1565910864
|
|
NM_001330260.2(SCN8A):c.2323C>T (p.His775Tyr)
|
|
|
NM_001330260.2(SCN8A):c.2350G>A (p.Val784Ile)
|
rs1942596077
|
|
NM_001330260.2(SCN8A):c.2359G>A (p.Val787Ile)
|
rs1178470597
|
|
NM_001330260.2(SCN8A):c.2370+6A>T
|
rs2138838830
|
|
NM_001330260.2(SCN8A):c.2393C>T (p.Ala798Val)
|
|
|
NM_001330260.2(SCN8A):c.2398A>G (p.Met800Val)
|
|
|
NM_001330260.2(SCN8A):c.2408A>G (p.Lys803Arg)
|
rs2138857715
|
|
NM_001330260.2(SCN8A):c.2413A>G (p.Ile805Val)
|
rs1942777853
|
|
NM_001330260.2(SCN8A):c.2417C>T (p.Ala806Val)
|
|
|
NM_001330260.2(SCN8A):c.2428T>C (p.Tyr810His)
|
|
|
NM_001330260.2(SCN8A):c.2448T>A (p.Gly816=)
|
|
|
NM_001330260.2(SCN8A):c.2472T>A (p.Ile824=)
|
rs1942778686
|
|
NM_001330260.2(SCN8A):c.2479C>T (p.Leu827Phe)
|
|
|
NM_001330260.2(SCN8A):c.2489T>C (p.Met830Thr)
|
|
|
NM_001330260.2(SCN8A):c.2495T>G (p.Leu832Arg)
|
|
|
NM_001330260.2(SCN8A):c.2509G>A (p.Val837Met)
|
rs2138857855
|
|
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)
|
rs796053210
|
|
NM_001330260.2(SCN8A):c.2540G>A (p.Arg847Gln)
|
|
|
NM_001330260.2(SCN8A):c.2544+30_2544+31insTTTGGTATTCCATATTTCTCCAATTTCTTTTAAC
|
rs756887880
|
|
NM_001330260.2(SCN8A):c.2545-5C>G
|
rs1592149694
|
|
NM_001330260.2(SCN8A):c.2551G>C (p.Val851Leu)
|
|
|
NM_001330260.2(SCN8A):c.2558A>G (p.Lys853Arg)
|
rs1942827683
|
|
NM_001330260.2(SCN8A):c.2560T>A (p.Leu854Met)
|
rs1942827739
|
|
NM_001330260.2(SCN8A):c.2563G>A (p.Ala855Thr)
|
rs1555225784
|
|
NM_001330260.2(SCN8A):c.2564C>G (p.Ala855Gly)
|
rs2138862590
|
|
NM_001330260.2(SCN8A):c.2572T>G (p.Trp858Gly)
|
|
|
NM_001330260.2(SCN8A):c.2585A>G (p.Asn862Ser)
|
rs2138862625
|
|
NM_001330260.2(SCN8A):c.2608A>C (p.Asn870His)
|
rs1942828379
|
|
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2635A>G (p.Thr879Ala)
|
rs2138862740
|
|
NM_001330260.2(SCN8A):c.2672T>C (p.Val891Ala)
|
rs2138862805
|
|
NM_001330260.2(SCN8A):c.2674G>A (p.Val892Met)
|
rs1942829484
|
|
NM_001330260.2(SCN8A):c.2675T>C (p.Val892Ala)
|
|
|
NM_001330260.2(SCN8A):c.269C>G (p.Thr90Arg)
|
|
|
NM_001330260.2(SCN8A):c.2708A>C (p.Glu903Ala)
|
rs2138862872
|
|
NM_001330260.2(SCN8A):c.2711G>A (p.Cys904Tyr)
|
|
|
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
|
|
|
NM_001330260.2(SCN8A):c.272A>T (p.Gln91Leu)
|
|
|
NM_001330260.2(SCN8A):c.2746C>T (p.Arg916Cys)
|
|
|
NM_001330260.2(SCN8A):c.274A>C (p.Lys92Gln)
|
|
|
NM_001330260.2(SCN8A):c.276A>G (p.Lys92=)
|
rs940189587
|
|
NM_001330260.2(SCN8A):c.277-10_277-7del
|
|
|
NM_001330260.2(SCN8A):c.2821A>G (p.Met941Val)
|
|
|
NM_001330260.2(SCN8A):c.2835G>C (p.Met945Ile)
|
rs1942831510
|
|
NM_001330260.2(SCN8A):c.2856G>A (p.Met952Ile)
|
rs2138863058
|
|
NM_001330260.2(SCN8A):c.2863A>T (p.Ile955Phe)
|
|
|
NM_001330260.2(SCN8A):c.2877G>A (p.Met959Ile)
|
rs2138863091
|
|
NM_001330260.2(SCN8A):c.2881A>G (p.Met961Val)
|
rs1942832105
|
|
NM_001330260.2(SCN8A):c.2894A>G (p.Asn965Ser)
|
|
|
NM_001330260.2(SCN8A):c.2897T>G (p.Leu966Trp)
|
rs1555225844
|
|
NM_001330260.2(SCN8A):c.2901+5G>T
|
rs2138863160
|
|
NM_001330260.2(SCN8A):c.291A>G (p.Leu97=)
|
|
|
NM_001330260.2(SCN8A):c.291A>T (p.Leu97Phe)
|
rs2138707920
|
|
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)
|
rs1565917697
|
|
NM_001330260.2(SCN8A):c.2950_2970del (p.Asn984_Asp990del)
|
|
|
NM_001330260.2(SCN8A):c.2960C>T (p.Ala987Val)
|
|
|
NM_001330260.2(SCN8A):c.2971G>A (p.Asp991Asn)
|
rs80261247
|
|
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser)
|
rs1565885985
|
|
NM_001330260.2(SCN8A):c.2982G>C (p.Met994Ile)
|
|
|
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)
|
rs1565917769
|
|
NM_001330260.2(SCN8A):c.2985C>A (p.Asn995Lys)
|
rs1942879102
|
|
NM_001330260.2(SCN8A):c.2986A>G (p.Asn996Asp)
|
|
|
NM_001330260.2(SCN8A):c.2988C>G (p.Asn996Lys)
|
|
|
NM_001330260.2(SCN8A):c.3018G>C (p.Lys1006Asn)
|
rs1057317154
|
|
NM_001330260.2(SCN8A):c.3023T>G (p.Val1008Gly)
|
|
|
NM_001330260.2(SCN8A):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001330260.2(SCN8A):c.3049G>T (p.Ala1017Ser)
|
rs751112057
|
|
NM_001330260.2(SCN8A):c.3061G>T (p.Ala1021Ser)
|
rs781237471
|
|
NM_001330260.2(SCN8A):c.3068T>G (p.Phe1023Cys)
|
|
|
NM_001330260.2(SCN8A):c.3077G>A (p.Arg1026His)
|
rs780010793
|
|
NM_001330260.2(SCN8A):c.3077G>T (p.Arg1026Leu)
|
|
|
NM_001330260.2(SCN8A):c.307C>A (p.Leu103Ile)
|
rs1941382009
|
|
NM_001330260.2(SCN8A):c.3083C>G (p.Ala1028Gly)
|
rs1942881418
|
|
NM_001330260.2(SCN8A):c.3086A>T (p.Asp1029Val)
|
|
|
NM_001330260.2(SCN8A):c.3091G>T (p.Val1031Leu)
|
|
|
NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala)
|
rs1057524300
|
|
NM_001330260.2(SCN8A):c.3103G>A (p.Asp1035Asn)
|
|
|
NM_001330260.2(SCN8A):c.3111G>T (p.Leu1037Phe)
|
|
|
NM_001330260.2(SCN8A):c.3124G>A (p.Ala1042Thr)
|
|
|
NM_001330260.2(SCN8A):c.3127A>G (p.Asn1043Asp)
|
|
|
NM_001330260.2(SCN8A):c.3128A>G (p.Asn1043Ser)
|
rs2138868545
|
|
NM_001330260.2(SCN8A):c.3133A>G (p.Ile1045Val)
|
|
|
NM_001330260.2(SCN8A):c.3149G>C (p.Gly1050Ala)
|
rs2138868637
|
|
NM_001330260.2(SCN8A):c.3205G>A (p.Gly1069Ser)
|
rs1064796374
|
|
NM_001330260.2(SCN8A):c.3206G>A (p.Gly1069Asp)
|
rs2138868784
|
|
NM_001330260.2(SCN8A):c.3206G>T (p.Gly1069Val)
|
|
|
NM_001330260.2(SCN8A):c.3220G>A (p.Val1074Met)
|
|
|
NM_001330260.2(SCN8A):c.322G>A (p.Ala108Thr)
|
|
|
NM_001330260.2(SCN8A):c.3240T>A (p.Asp1080Glu)
|
|
|
NM_001330260.2(SCN8A):c.3246C>A (p.Asp1082Glu)
|
|
|
NM_001330260.2(SCN8A):c.3259A>G (p.Ile1087Val)
|
rs763424705
|
|
NM_001330260.2(SCN8A):c.3259A>T (p.Ile1087Phe)
|
|
|
NM_001330260.2(SCN8A):c.3268C>T (p.Pro1090Ser)
|
rs1565918102
|
|
NM_001330260.2(SCN8A):c.326C>T (p.Thr109Met)
|
rs375480171
|
|
NM_001330260.2(SCN8A):c.3272A>C (p.Asn1091Thr)
|
rs558738676
|
|
NM_001330260.2(SCN8A):c.3274T>A (p.Leu1092Met)
|
rs1942886229
|
|
NM_001330260.2(SCN8A):c.3275T>G (p.Leu1092Trp)
|
|
|
NM_001330260.2(SCN8A):c.3280G>A (p.Val1094Ile)
|
|
|
NM_001330260.2(SCN8A):c.3283C>T (p.Arg1095Trp)
|
|
|
NM_001330260.2(SCN8A):c.3284G>A (p.Arg1095Gln)
|
rs2138868984
|
|
NM_001330260.2(SCN8A):c.3293T>A (p.Ile1098Asn)
|
rs1238494045
|
|
NM_001330260.2(SCN8A):c.3298G>A (p.Val1100Met)
|
|
|
NM_001330260.2(SCN8A):c.3303C>T (p.Gly1101=)
|
rs1942886702
|
|
NM_001330260.2(SCN8A):c.3331G>C (p.Glu1111Gln)
|
|
|
NM_001330260.2(SCN8A):c.3346G>A (p.Glu1116Lys)
|
rs1555226176
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3370G>A (p.Asp1124Asn)
|
rs1942888203
|
|
NM_001330260.2(SCN8A):c.3372+6G>T
|
rs1942888320
|
|
NM_001330260.2(SCN8A):c.3377T>A (p.Leu1126Gln)
|
rs977168749
|
|
NM_001330260.2(SCN8A):c.3404G>A (p.Ser1135Asn)
|
|
|
NM_001330260.2(SCN8A):c.3409A>G (p.Ile1137Val)
|
|
|
NM_001330260.2(SCN8A):c.340A>C (p.Ile114Leu)
|
|
|
NM_001330260.2(SCN8A):c.3416T>C (p.Ile1139Thr)
|
|
|
NM_001330260.2(SCN8A):c.3421C>A (p.Pro1141Thr)
|
|
|
NM_001330260.2(SCN8A):c.3422C>T (p.Pro1141Leu)
|
|
|
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys)
|
rs1324401898
|
|
NM_001330260.2(SCN8A):c.3436G>A (p.Val1146Ile)
|
|
|
NM_001330260.2(SCN8A):c.3436G>T (p.Val1146Phe)
|
|
|
NM_001330260.2(SCN8A):c.3440C>T (p.Pro1147Leu)
|
|
|
NM_001330260.2(SCN8A):c.3457G>A (p.Glu1153Lys)
|
rs2138870339
|
|
NM_001330260.2(SCN8A):c.3466G>A (p.Asp1156Asn)
|
rs777129956
|
|
NM_001330260.2(SCN8A):c.3467A>C (p.Asp1156Ala)
|
rs2138870366
|
|
NM_001330260.2(SCN8A):c.3475G>A (p.Ala1159Thr)
|
rs2138870403
|
|
NM_001330260.2(SCN8A):c.3479G>A (p.Cys1160Tyr)
|
rs1942899278
|
|
NM_001330260.2(SCN8A):c.3490+4_3490+8del
|
|
|
NM_001330260.2(SCN8A):c.3502C>T (p.Arg1168Trp)
|
|
|
NM_001330260.2(SCN8A):c.3509A>G (p.Lys1170Arg)
|
rs774163610
|
|
NM_001330260.2(SCN8A):c.3512G>A (p.Cys1171Tyr)
|
rs2138871534
|
|
NM_001330260.2(SCN8A):c.3524A>G (p.Asn1175Ser)
|
rs1592152427
|
|
NM_001330260.2(SCN8A):c.3538C>T (p.Leu1180=)
|
rs2138871616
|
|
NM_001330260.2(SCN8A):c.3569C>T (p.Thr1190Ile)
|
|
|
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met)
|
rs1942911383
|
|
NM_001330260.2(SCN8A):c.3593A>G (p.Asn1198Ser)
|
rs780745536
|
|
NM_001330260.2(SCN8A):c.3610A>G (p.Ile1204Val)
|
rs2138871785
|
|
NM_001330260.2(SCN8A):c.361A>T (p.Ile121Leu)
|
|
|
NM_001330260.2(SCN8A):c.3621G>C (p.Met1207Ile)
|
|
|
NM_001330260.2(SCN8A):c.362T>A (p.Ile121Lys)
|
rs1941383326
|
|
NM_001330260.2(SCN8A):c.3646-10T>A
|
rs1942972709
|
|
NM_001330260.2(SCN8A):c.3652G>A (p.Glu1218Lys)
|
rs1555226823
|
|
NM_001330260.2(SCN8A):c.365G>A (p.Arg122Lys)
|
|
|
NM_001330260.2(SCN8A):c.3685C>T (p.Arg1229Cys)
|
|
|
NM_001330260.2(SCN8A):c.3686G>T (p.Arg1229Leu)
|
rs1020998191
|
|
NM_001330260.2(SCN8A):c.368G>A (p.Arg123Lys)
|
|
|
NM_001330260.2(SCN8A):c.36T>G (p.Asp12Glu)
|
rs1185519570
|
|
NM_001330260.2(SCN8A):c.3712G>A (p.Val1238Ile)
|
rs1942974112
|
|
NM_001330260.2(SCN8A):c.3724A>G (p.Ile1242Val)
|
|
|
NM_001330260.2(SCN8A):c.3811A>G (p.Ile1271Val)
|
rs2138879236
|
|
NM_001330260.2(SCN8A):c.3813T>G (p.Ile1271Met)
|
|
|
NM_001330260.2(SCN8A):c.3819T>C (p.Ala1273=)
|
|
|
NM_001330260.2(SCN8A):c.3832A>T (p.Ser1278Cys)
|
|
|
NM_001330260.2(SCN8A):c.3838A>G (p.Ile1280Val)
|
|
|
NM_001330260.2(SCN8A):c.3917C>G (p.Ala1306Gly)
|
|
|
NM_001330260.2(SCN8A):c.3921A>T (p.Leu1307Phe)
|
rs1565923638
|
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NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln)
|
rs201255617
|
|
NM_001330260.2(SCN8A):c.3932A>T (p.Glu1311Val)
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|
|
NM_001330260.2(SCN8A):c.3934G>C (p.Gly1312Arg)
|
rs2138892889
|
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NM_001330260.2(SCN8A):c.3939G>A (p.Met1313Ile)
|
rs1085307546
|
|
NM_001330260.2(SCN8A):c.3942+2_3942+5dup
|
rs764867016
|
|
NM_001330260.2(SCN8A):c.3942+3A>T
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|
|
NM_001330260.2(SCN8A):c.3946G>T (p.Val1316Leu)
|
rs2138903944
|
|
NM_001330260.2(SCN8A):c.394T>C (p.Ser132Pro)
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|
|
NM_001330260.2(SCN8A):c.395+4T>C
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NM_001330260.2(SCN8A):c.396-9C>A
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NM_001330260.2(SCN8A):c.397G>A (p.Val133Ile)
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|
|
NM_001330260.2(SCN8A):c.3982A>G (p.Met1328Val)
|
rs1938092498
|
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NM_001330260.2(SCN8A):c.3988G>A (p.Val1330Met)
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|
|
NM_001330260.2(SCN8A):c.4000T>C (p.Cys1334Arg)
|
rs2138904131
|
|
NM_001330260.2(SCN8A):c.4064A>G (p.Tyr1355Cys)
|
rs1592162522
|
|
NM_001330260.2(SCN8A):c.4078A>T (p.Thr1360Ser)
|
rs796053215
|
|
NM_001330260.2(SCN8A):c.4088T>C (p.Ile1363Thr)
|
rs1229965891
|
|
NM_001330260.2(SCN8A):c.4174G>A (p.Val1392Met)
|
rs770135840
|
|
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe)
|
rs2138904598
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|
NM_001330260.2(SCN8A):c.421A>G (p.Thr141Ala)
|
rs1941420783
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NM_001330260.2(SCN8A):c.4228-7T>C
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NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)
|
rs1555228665
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|
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val)
|
rs2138711868
|
|
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln)
|
rs1057524240
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|
NM_001330260.2(SCN8A):c.4281+6G>A
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NM_001330260.2(SCN8A):c.4281+6G>T
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NM_001330260.2(SCN8A):c.4282-3C>T
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NM_001330260.2(SCN8A):c.4325T>C (p.Ile1442Thr)
|
rs1938177744
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NM_001330260.2(SCN8A):c.4342A>C (p.Ile1448Leu)
|
rs1938178108
|
|
NM_001330260.2(SCN8A):c.4342A>G (p.Ile1448Val)
|
rs1938178108
|
|
NM_001330260.2(SCN8A):c.434A>G (p.Asn145Ser)
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|
|
NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)
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NM_001330260.2(SCN8A):c.4400T>G (p.Phe1467Cys)
|
rs1938179062
|
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NM_001330260.2(SCN8A):c.4411A>C (p.Lys1471Gln)
|
rs1057521767
|
|
NM_001330260.2(SCN8A):c.4413G>T (p.Lys1471Asn)
|
rs776485215
|
|
NM_001330260.2(SCN8A):c.4419G>A (p.Lys1473=)
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|
|
NM_001330260.2(SCN8A):c.4420-1C>A
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|
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
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|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
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NM_001330260.2(SCN8A):c.4426G>T (p.Gly1476Cys)
|
|
|
NM_001330260.2(SCN8A):c.4427G>A (p.Gly1476Asp)
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|
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NM_001330260.2(SCN8A):c.4432G>A (p.Asp1478Asn)
|
rs2138911518
|
|
NM_001330260.2(SCN8A):c.4435A>C (p.Ile1479Leu)
|
rs796053217
|
|
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)
|
rs886041670
|
|
NM_001330260.2(SCN8A):c.4444A>G (p.Thr1482Ala)
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|
|
NM_001330260.2(SCN8A):c.4449A>C (p.Glu1483Asp)
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|
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NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr)
|
rs1592164705
|
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NM_001330260.2(SCN8A):c.4474A>G (p.Met1492Val)
|
rs1938215673
|
|
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
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|
|
NM_001330260.2(SCN8A):c.4477A>G (p.Lys1493Glu)
|
rs1060501011
|
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NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4516C>T (p.Arg1506Cys)
|
|
|
NM_001330260.2(SCN8A):c.4524+3A>G
|
rs1186875917
|
|
NM_001330260.2(SCN8A):c.4553T>C (p.Phe1518Ser)
|
rs2138919037
|
|
NM_001330260.2(SCN8A):c.4556T>C (p.Val1519Ala)
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|
|
NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)
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NM_001330260.2(SCN8A):c.4591C>A (p.Leu1531Ile)
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|
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NM_001330260.2(SCN8A):c.459C>A (p.Asn153Lys)
|
rs2138711905
|
|
NM_001330260.2(SCN8A):c.4606A>C (p.Met1536Leu)
|
rs1938352194
|
|
NM_001330260.2(SCN8A):c.4606A>G (p.Met1536Val)
|
rs1938352194
|
|
NM_001330260.2(SCN8A):c.4606A>T (p.Met1536Leu)
|
rs1938352194
|
|
NM_001330260.2(SCN8A):c.4608G>A (p.Met1536Ile)
|
rs1938352290
|
|
NM_001330260.2(SCN8A):c.4608G>C (p.Met1536Ile)
|
rs1938352290
|
|
NM_001330260.2(SCN8A):c.4621G>A (p.Val1541Met)
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|
|
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu)
|
rs1020370285
|
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NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)
|
|
|
NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)
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|
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NM_001330260.2(SCN8A):c.4679T>C (p.Val1560Ala)
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|
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NM_001330260.2(SCN8A):c.4688T>C (p.Ile1563Thr)
|
rs190254722
|
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NM_001330260.2(SCN8A):c.4688T>G (p.Ile1563Ser)
|
rs190254722
|
|
NM_001330260.2(SCN8A):c.4697C>T (p.Thr1566Ile)
|
rs1938354052
|
|
NM_001330260.2(SCN8A):c.4704G>T (p.Glu1568Asp)
|
rs1207860967
|
|
NM_001330260.2(SCN8A):c.4727T>C (p.Leu1576Ser)
|
rs953377308
|
|
NM_001330260.2(SCN8A):c.4747A>G (p.Ile1583Val)
|
rs1321044528
|
|
NM_001330260.2(SCN8A):c.4759A>T (p.Ile1587Phe)
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|
|
NM_001330260.2(SCN8A):c.4770C>G (p.Phe1590Leu)
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|
|
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met)
|
rs1565929209
|
|
NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)
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|
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NM_001330260.2(SCN8A):c.477G>T (p.Lys159Asn)
|
rs781190497
|
|
NM_001330260.2(SCN8A):c.4780_4782del (p.Ile1594del)
|
|
|
NM_001330260.2(SCN8A):c.4781T>C (p.Ile1594Thr)
|
rs2138919636
|
|
NM_001330260.2(SCN8A):c.4794_4795+20dup
|
rs2138919676
|
|
NM_001330260.2(SCN8A):c.4798A>G (p.Met1600Val)
|
rs796053221
|
|
NM_001330260.2(SCN8A):c.47C>T (p.Pro16Leu)
|
rs1940950901
|
|
NM_001330260.2(SCN8A):c.4800G>A (p.Met1600Ile)
|
rs1565933795
|
|
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val)
|
rs879255706
|
|
NM_001330260.2(SCN8A):c.4814T>C (p.Ile1605Thr)
|
rs2138942209
|
|
NM_001330260.2(SCN8A):c.4817T>C (p.Ile1606Thr)
|
rs2138942215
|
|
NM_001330260.2(SCN8A):c.4825T>C (p.Tyr1609His)
|
rs2138942236
|
|
NM_001330260.2(SCN8A):c.4826A>C (p.Tyr1609Ser)
|
|
|
NM_001330260.2(SCN8A):c.4858C>T (p.Arg1620Ter)
|
|
|
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)
|
rs886044328
|
|
NM_001330260.2(SCN8A):c.4885C>T (p.Arg1629Cys)
|
rs1592174265
|
|
NM_001330260.2(SCN8A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001330260.2(SCN8A):c.4886G>C (p.Arg1629Pro)
|
|
|
NM_001330260.2(SCN8A):c.4889T>C (p.Leu1630Pro)
|
rs796053222
|
|
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)
|
rs1085307999
|
|
NM_001330260.2(SCN8A):c.4896A>T (p.Lys1632Asn)
|
|
|
NM_001330260.2(SCN8A):c.4900G>A (p.Ala1634Thr)
|
rs996870199
|
|
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys)
|
rs1938703307
|
|
NM_001330260.2(SCN8A):c.4916C>G (p.Thr1639Ser)
|
|
|
NM_001330260.2(SCN8A):c.4936A>T (p.Met1646Leu)
|
rs796053223
|
|
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe)
|
rs773587801
|
|
NM_001330260.2(SCN8A):c.4966C>T (p.Leu1656Phe)
|
rs1938704933
|
|
NM_001330260.2(SCN8A):c.4979T>A (p.Leu1660Gln)
|
|
|
NM_001330260.2(SCN8A):c.497C>T (p.Thr166Ile)
|
rs1057520361
|
|
NM_001330260.2(SCN8A):c.4981G>A (p.Val1661Ile)
|
|
|
NM_001330260.2(SCN8A):c.4G>A (p.Ala2Thr)
|
rs2138670848
|
|
NM_001330260.2(SCN8A):c.5015A>G (p.Asn1672Ser)
|
rs1592174367
|
|
NM_001330260.2(SCN8A):c.5025T>A (p.Tyr1675Ter)
|
|
|
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn)
|
rs1023188648
|
|
NM_001330260.2(SCN8A):c.5056T>G (p.Phe1686Val)
|
|
|
NM_001330260.2(SCN8A):c.5066A>C (p.Glu1689Ala)
|
|
|
NM_001330260.2(SCN8A):c.50_55del (p.Phe17_Pro19delinsSer)
|
rs2138670960
|
|
NM_001330260.2(SCN8A):c.5107A>G (p.Thr1703Ala)
|
|
|
NM_001330260.2(SCN8A):c.5129TGC[2] (p.Leu1712del)
|
rs2138942921
|
|
NM_001330260.2(SCN8A):c.5138C>A (p.Pro1713His)
|
|
|
NM_001330260.2(SCN8A):c.5149C>G (p.Arg1717Gly)
|
rs1451912147
|
|
NM_001330260.2(SCN8A):c.5150G>A (p.Arg1717His)
|
|
|
NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser)
|
rs794727442
|
|
NM_001330260.2(SCN8A):c.5155C>G (p.Pro1719Ala)
|
rs1938709746
|
|
NM_001330260.2(SCN8A):c.5165G>T (p.Ser1722Ile)
|
|
|
NM_001330260.2(SCN8A):c.5167C>A (p.Leu1723Ile)
|
|
|
NM_001330260.2(SCN8A):c.5167C>G (p.Leu1723Val)
|
|
|
NM_001330260.2(SCN8A):c.5176G>T (p.Glu1726Ter)
|
rs1555230980
|
|
NM_001330260.2(SCN8A):c.51C>G (p.Phe17Leu)
|
rs1592363287
|
|
NM_001330260.2(SCN8A):c.5225G>C (p.Gly1742Ala)
|
rs2138943188
|
|
NM_001330260.2(SCN8A):c.5251A>G (p.Ile1751Val)
|
|
|
NM_001330260.2(SCN8A):c.5266A>G (p.Ile1756Val)
|
rs1592174549
|
|
NM_001330260.2(SCN8A):c.5269G>A (p.Val1757Ile)
|
rs1555231008
|
|
NM_001330260.2(SCN8A):c.5284A>T (p.Ile1762Phe)
|
rs2138943320
|
|
NM_001330260.2(SCN8A):c.5291T>C (p.Ile1764Thr)
|
|
|
NM_001330260.2(SCN8A):c.5298G>A (p.Leu1766=)
|
rs201801330
|
|
NM_001330260.2(SCN8A):c.5305T>C (p.Phe1769Leu)
|
rs2138943375
|
|
NM_001330260.2(SCN8A):c.5307C>A (p.Phe1769Leu)
|
|
|
NM_001330260.2(SCN8A):c.5311G>A (p.Val1771Ile)
|
|
|
NM_001330260.2(SCN8A):c.5315C>A (p.Ala1772Asp)
|
|
|
NM_001330260.2(SCN8A):c.5330_5344del (p.Ala1777_Ser1781del)
|
|
|
NM_001330260.2(SCN8A):c.5348A>T (p.Asp1783Val)
|
rs1938715021
|
|
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)
|
rs1131691830
|
|
NM_001330260.2(SCN8A):c.5385C>A (p.Phe1795Leu)
|
rs748215769
|
|
NM_001330260.2(SCN8A):c.5389C>T (p.Pro1797Ser)
|
|
|
NM_001330260.2(SCN8A):c.5392G>A (p.Asp1798Asn)
|
rs2138943594
|
|
NM_001330260.2(SCN8A):c.5416T>C (p.Cys1806Arg)
|
|
|
NM_001330260.2(SCN8A):c.5428G>C (p.Asp1810His)
|
|
|
NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu)
|
rs1295392795
|
|
NM_001330260.2(SCN8A):c.5441C>G (p.Ala1814Gly)
|
rs1938717640
|
|
NM_001330260.2(SCN8A):c.5458C>T (p.Arg1820Ter)
|
rs747526439
|
|
NM_001330260.2(SCN8A):c.5459G>A (p.Arg1820Gln)
|
rs919754724
|
|
NM_001330260.2(SCN8A):c.5480T>C (p.Ile1827Thr)
|
rs1938719619
|
|
NM_001330260.2(SCN8A):c.5498A>G (p.Asp1833Gly)
|
|
|
NM_001330260.2(SCN8A):c.5506A>T (p.Met1836Leu)
|
rs202187894
|
|
NM_001330260.2(SCN8A):c.5515G>A (p.Gly1839Arg)
|
rs1938720718
|
|
NM_001330260.2(SCN8A):c.5522G>A (p.Arg1841His)
|
|
|
NM_001330260.2(SCN8A):c.5522G>C (p.Arg1841Pro)
|
rs1938720909
|
|
NM_001330260.2(SCN8A):c.5528A>C (p.His1843Pro)
|
|
|
NM_001330260.2(SCN8A):c.5534T>C (p.Leu1845Ser)
|
rs1555231063
|
|
NM_001330260.2(SCN8A):c.5549C>T (p.Ala1850Val)
|
rs1592174793
|
|
NM_001330260.2(SCN8A):c.5555C>T (p.Thr1852Ile)
|
rs796053227
|
|
NM_001330260.2(SCN8A):c.5559G>C (p.Lys1853Asn)
|
|
|
NM_001330260.2(SCN8A):c.5570del (p.Gly1857fs)
|
|
|
NM_001330260.2(SCN8A):c.5582A>G (p.Glu1861Gly)
|
rs2138944042
|
|
NM_001330260.2(SCN8A):c.5588A>C (p.Asp1863Ala)
|
rs2138944062
|
|
NM_001330260.2(SCN8A):c.5590A>G (p.Ile1864Val)
|
rs1938723095
|
|
NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp)
|
rs1938723469
|
|
NM_001330260.2(SCN8A):c.5597G>A (p.Arg1866Gln)
|
rs1555231108
|
|
NM_001330260.2(SCN8A):c.5603A>C (p.Gln1868Pro)
|
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
NM_001330260.2(SCN8A):c.5607G>A (p.Met1869Ile)
|
rs1565934425
|
|
NM_001330260.2(SCN8A):c.5608del (p.Glu1870fs)
|
|
|
NM_001330260.2(SCN8A):c.5619_5621dup (p.Val1874_Ala1875insVal)
|
|
|
NM_001330260.2(SCN8A):c.5624C>T (p.Ala1875Val)
|
|
|
NM_001330260.2(SCN8A):c.5638A>G (p.Lys1880Glu)
|
rs1555231128
|
|
NM_001330260.2(SCN8A):c.5639A>C (p.Lys1880Thr)
|
rs1938725665
|
|
NM_001330260.2(SCN8A):c.5640A>C (p.Lys1880Asn)
|
rs1938725748
|
|
NM_001330260.2(SCN8A):c.5644T>C (p.Ser1882Pro)
|
rs2138944257
|
|
NM_001330260.2(SCN8A):c.5645C>A (p.Ser1882Tyr)
|
rs1592174945
|
|
NM_001330260.2(SCN8A):c.5645C>T (p.Ser1882Phe)
|
|
|
NM_001330260.2(SCN8A):c.5648A>G (p.Tyr1883Cys)
|
rs2138944280
|
|
NM_001330260.2(SCN8A):c.5650G>A (p.Glu1884Lys)
|
|
|
NM_001330260.2(SCN8A):c.5659A>G (p.Thr1887Ala)
|
rs1592174975
|
|
NM_001330260.2(SCN8A):c.5669T>C (p.Leu1890Pro)
|
rs2138944374
|
|
NM_001330260.2(SCN8A):c.5671C>T (p.Arg1891Cys)
|
|
|
NM_001330260.2(SCN8A):c.5672G>A (p.Arg1891His)
|
rs1555231135
|
|
NM_001330260.2(SCN8A):c.5675G>T (p.Arg1892Leu)
|
rs1565934531
|
|
NM_001330260.2(SCN8A):c.567T>G (p.Phe189Leu)
|
|
|
NM_001330260.2(SCN8A):c.5696C>T (p.Ala1899Val)
|
rs1938728013
|
|
NM_001330260.2(SCN8A):c.56C>G (p.Pro19Arg)
|
rs1940951099
|
|
NM_001330260.2(SCN8A):c.5713G>A (p.Ala1905Thr)
|
|
|
NM_001330260.2(SCN8A):c.571C>T (p.Arg191Trp)
|
|
|
NM_001330260.2(SCN8A):c.5722G>A (p.Gly1908Arg)
|
|
|
NM_001330260.2(SCN8A):c.572G>A (p.Arg191Gln)
|
rs1345271275
|
|
NM_001330260.2(SCN8A):c.5738G>A (p.Arg1913Gln)
|
|
|
NM_001330260.2(SCN8A):c.5740G>T (p.Gly1914Cys)
|
rs2138944580
|
|
NM_001330260.2(SCN8A):c.5741G>A (p.Gly1914Asp)
|
|
|
NM_001330260.2(SCN8A):c.5758A>C (p.Thr1920Pro)
|
rs2138944655
|
|
NM_001330260.2(SCN8A):c.5761A>G (p.Thr1921Ala)
|
rs368796221
|
|
NM_001330260.2(SCN8A):c.5764T>A (p.Ser1922Thr)
|
rs2138944691
|
|
NM_001330260.2(SCN8A):c.5777A>T (p.Glu1926Val)
|
|
|
NM_001330260.2(SCN8A):c.5793C>G (p.His1931Gln)
|
rs1938732126
|
|
NM_001330260.2(SCN8A):c.5795G>A (p.Arg1932Gln)
|
rs371766742
|
|
NM_001330260.2(SCN8A):c.5800A>G (p.Lys1934Glu)
|
rs1555231174
|
|
NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs)
|
rs2138944836
|
|
NM_001330260.2(SCN8A):c.5834C>T (p.Pro1945Leu)
|
|
|
NM_001330260.2(SCN8A):c.5848G>A (p.Val1950Ile)
|
|
|
NM_001330260.2(SCN8A):c.5869_5870insC (p.Lys1957fs)
|
rs867485612
|
|
NM_001330260.2(SCN8A):c.5872C>T (p.Gln1958Ter)
|
rs1555231189
|
|
NM_001330260.2(SCN8A):c.5879G>T (p.Arg1960Leu)
|
|
|
NM_001330260.2(SCN8A):c.5903G>C (p.Arg1968Thr)
|
|
|
NM_001330260.2(SCN8A):c.5904_5905del (p.Arg1968fs)
|
rs1938738246
|
|
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)
|
rs1565934813
|
|
NM_001330260.2(SCN8A):c.5938_5941dup (p.Ter1981LeuextTer?)
|
rs2138945210
|
|
NM_001330260.2(SCN8A):c.60G>C (p.Glu20Asp)
|
rs1940951373
|
|
NM_001330260.2(SCN8A):c.615-151G>A
|
|
|
NM_001330260.2(SCN8A):c.631G>A (p.Val211Met)
|
rs2138716617
|
|
NM_001330260.2(SCN8A):c.635_640del (p.Asp212_Leu213del)
|
|
|
NM_001330260.2(SCN8A):c.638T>C (p.Leu213Pro)
|
|
|
NM_001330260.2(SCN8A):c.640G>A (p.Gly214Ser)
|
rs1555217386
|
|
NM_001330260.2(SCN8A):c.641G>A (p.Gly214Asp)
|
rs2138716643
|
|
NM_001330260.2(SCN8A):c.647T>C (p.Val216Ala)
|
rs1555217390
|
|
NM_001330260.2(SCN8A):c.652G>C (p.Ala218Pro)
|
rs2138716670
|
|
NM_001330260.2(SCN8A):c.653C>T (p.Ala218Val)
|
|
|
NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)
|
rs1592380859
|
|
NM_001330260.2(SCN8A):c.685A>G (p.Lys229Glu)
|
rs2138716740
|
|
NM_001330260.2(SCN8A):c.689C>T (p.Thr230Ile)
|
|
|
NM_001330260.2(SCN8A):c.706+17A>G
|
rs756313977
|
|
NM_001330260.2(SCN8A):c.706+5_706+6del
|
|
|
NM_001330260.2(SCN8A):c.707G>A (p.Gly236Asp)
|
rs1555218603
|
|
NM_001330260.2(SCN8A):c.715A>G (p.Thr239Ala)
|
|
|
NM_001330260.2(SCN8A):c.733A>C (p.Ile245Leu)
|
|
|
NM_001330260.2(SCN8A):c.790G>T (p.Val264Phe)
|
rs2138735683
|
|
NM_001330260.2(SCN8A):c.791T>C (p.Val264Ala)
|
rs2138735689
|
|
NM_001330260.2(SCN8A):c.813G>C (p.Gln271His)
|
|
|
NM_001330260.2(SCN8A):c.826A>G (p.Asn276Asp)
|
|
|
NM_001330260.2(SCN8A):c.833G>A (p.Arg278Gln)
|
|
|
NM_001330260.2(SCN8A):c.847G>A (p.Val283Met)
|
rs775342033
|
|
NM_001330260.2(SCN8A):c.85A>C (p.Ile29Leu)
|
|
|
NM_001330260.2(SCN8A):c.868G>A (p.Glu290Lys)
|
rs1555218674
|
|
NM_001330260.2(SCN8A):c.88G>A (p.Ala30Thr)
|
rs2138671059
|
|
NM_001330260.2(SCN8A):c.898T>C (p.Phe300Leu)
|
|
|
NM_001330260.2(SCN8A):c.923A>G (p.Asn308Ser)
|
|
|
NM_001330260.2(SCN8A):c.949G>A (p.Gly317Ser)
|
|
|
NM_001330260.2(SCN8A):c.955C>A (p.Leu319Met)
|
rs1380654654
|
|
NM_001330260.2(SCN8A):c.981T>A (p.Ser327Arg)
|
rs2138739076
|
|
NM_001330260.2(SCN8A):c.986A>C (p.Asp329Ala)
|
rs1592389210
|
|
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)
|
rs1592389210
|
|
NM_001330260.2(SCN8A):c.993-14CTTT[2]
|
rs1565892528
|
|
NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)
|
|
|
NM_003165.3(STXBP1):c.88-?_963+?dup
|
|
|
NM_003165.6(STXBP1):c.1723C>T (p.Pro575Ser)
|
rs1842134181
|
|
NM_003165.6(STXBP1):c.1727C>T (p.Thr576Ile)
|
|
|
NM_003165.6(STXBP1):c.1736_1737delinsAA (p.Leu579Gln)
|
rs2131543105
|
|
NM_003165.6(STXBP1):c.1780T>C (p.Ser594Pro)
|
|
|
NM_003165.6(STXBP1):c.1783T>G (p.Phe595Val)
|
rs1318295744
|
|
NM_003165.6(STXBP1):c.1789G>A (p.Asp597Asn)
|
rs749807465
|
|
NM_003165.6(STXBP1):c.1811G>C (p.Ter604Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1000G>A (p.Glu334Lys)
|
rs743855
|
|
NM_006030.4(CACNA2D2):c.100C>G (p.Arg34Gly)
|
rs1477695737
|
|
NM_006030.4(CACNA2D2):c.1015G>A (p.Val339Met)
|
rs2106661739
|
|
NM_006030.4(CACNA2D2):c.101_121dup (p.Arg34_Pro40dup)
|
rs2107205503
|
|
NM_006030.4(CACNA2D2):c.1025T>G (p.Phe342Cys)
|
rs1705187198
|
|
NM_006030.4(CACNA2D2):c.1051C>T (p.Arg351Cys)
|
rs1705186332
|
|
NM_006030.4(CACNA2D2):c.1066T>C (p.Phe356Leu)
|
rs1324633313
|
|
NM_006030.4(CACNA2D2):c.10C>G (p.Pro4Ala)
|
|
|
NM_006030.4(CACNA2D2):c.1103C>T (p.Thr368Ile)
|
rs1343864972
|
|
NM_006030.4(CACNA2D2):c.1118C>T (p.Ala373Val)
|
rs2106661174
|
|
NM_006030.4(CACNA2D2):c.1132G>T (p.Ala378Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1135T>C (p.Phe379Leu)
|
rs2106661072
|
|
NM_006030.4(CACNA2D2):c.1153-8C>A
|
rs767871348
|
|
NM_006030.4(CACNA2D2):c.115G>C (p.Gly39Arg)
|
rs536869186
|
|
NM_006030.4(CACNA2D2):c.1169C>T (p.Ala390Val)
|
rs2106659535
|
|
NM_006030.4(CACNA2D2):c.1172A>G (p.Asn391Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1178A>G (p.Asn393Ser)
|
rs2106659467
|
|
NM_006030.4(CACNA2D2):c.1186A>G (p.Ile396Val)
|
rs2106659404
|
|
NM_006030.4(CACNA2D2):c.1192A>T (p.Met398Leu)
|
rs1705162450
|
|
NM_006030.4(CACNA2D2):c.119C>A (p.Pro40His)
|
rs1575798996
|
|
NM_006030.4(CACNA2D2):c.119C>G (p.Pro40Arg)
|
rs1575798996
|
|
NM_006030.4(CACNA2D2):c.119C>T (p.Pro40Leu)
|
rs1575798996
|
|
NM_006030.4(CACNA2D2):c.11C>T (p.Pro4Leu)
|
|
|
NM_006030.4(CACNA2D2):c.1200G>A (p.Thr400=)
|
rs1553729735
|
|
NM_006030.4(CACNA2D2):c.1215C>G (p.Asp405Glu)
|
rs756209511
|
|
NM_006030.4(CACNA2D2):c.1217G>A (p.Arg406His)
|
rs752852530
|
|
NM_006030.4(CACNA2D2):c.1234G>A (p.Glu412Lys)
|
|
|
NM_006030.4(CACNA2D2):c.1249C>G (p.Pro417Ala)
|
rs1575602286
|
|
NM_006030.4(CACNA2D2):c.124C>T (p.Arg42Cys)
|
rs1190193195
|
|
NM_006030.4(CACNA2D2):c.1260G>A (p.Thr420=)
|
|
|
NM_006030.4(CACNA2D2):c.1264C>T (p.Arg422Cys)
|
|
|
NM_006030.4(CACNA2D2):c.1265G>A (p.Arg422His)
|
rs1465295956
|
|
NM_006030.4(CACNA2D2):c.1267G>A (p.Val423Met)
|
rs1553729622
|
|
NM_006030.4(CACNA2D2):c.1297T>G (p.Tyr433Asp)
|
|
|
NM_006030.4(CACNA2D2):c.1325C>A (p.Ala442Asp)
|
rs754316620
|
|
NM_006030.4(CACNA2D2):c.1339+4C>T
|
rs2106657382
|
|
NM_006030.4(CACNA2D2):c.133_138dup (p.Trp45_Leu46dup)
|
rs1060503109
|
|
NM_006030.4(CACNA2D2):c.1340-12C>T
|
|
|
NM_006030.4(CACNA2D2):c.1346A>G (p.Tyr449Cys)
|
rs2106654222
|
|
NM_006030.4(CACNA2D2):c.1366G>A (p.Gly456Arg)
|
rs1389840203
|
|
NM_006030.4(CACNA2D2):c.1376G>A (p.Arg459His)
|
|
|
NM_006030.4(CACNA2D2):c.1376G>T (p.Arg459Leu)
|
|
|
NM_006030.4(CACNA2D2):c.1411A>G (p.Arg471Gly)
|
rs1705081540
|
|
NM_006030.4(CACNA2D2):c.1438G>A (p.Ala480Thr)
|
rs1705079845
|
|
NM_006030.4(CACNA2D2):c.146C>G (p.Pro49Arg)
|
|
|
NM_006030.4(CACNA2D2):c.1475C>T (p.Ala492Val)
|
rs1705078074
|
|
NM_006030.4(CACNA2D2):c.152T>C (p.Leu51Pro)
|
rs2107205329
|
|
NM_006030.4(CACNA2D2):c.1534G>A (p.Gly512Ser)
|
rs587697301
|
|
NM_006030.4(CACNA2D2):c.1535G>T (p.Gly512Val)
|
|
|
NM_006030.4(CACNA2D2):c.1551+17G>T
|
rs1238265628
|
|
NM_006030.4(CACNA2D2):c.1552-3C>T
|
rs1705055454
|
|
NM_006030.4(CACNA2D2):c.1570G>C (p.Val524Leu)
|
|
|
NM_006030.4(CACNA2D2):c.1588G>A (p.Ala530Thr)
|
rs1705053157
|
|
NM_006030.4(CACNA2D2):c.1615C>T (p.Pro539Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1619A>G (p.Asn540Ser)
|
rs748770803
|
|
NM_006030.4(CACNA2D2):c.1626G>A (p.Thr542=)
|
|
|
NM_006030.4(CACNA2D2):c.1637A>G (p.Asn546Ser)
|
rs374732236
|
|
NM_006030.4(CACNA2D2):c.1645G>C (p.Val549Leu)
|
|
|
NM_006030.4(CACNA2D2):c.1655T>C (p.Ile552Thr)
|
rs1704975948
|
|
NM_006030.4(CACNA2D2):c.1672G>T (p.Val558Leu)
|
rs763772019
|
|
NM_006030.4(CACNA2D2):c.16C>T (p.Arg6Trp)
|
|
|
NM_006030.4(CACNA2D2):c.1701+6C>G
|
|
|
NM_006030.4(CACNA2D2):c.1701G>C (p.Gln567His)
|
|
|
NM_006030.4(CACNA2D2):c.1720C>T (p.Pro574Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1734C>G (p.Asp578Glu)
|
|
|
NM_006030.4(CACNA2D2):c.1745C>T (p.Ala582Val)
|
rs760604912
|
|
NM_006030.4(CACNA2D2):c.1756G>A (p.Asp586Asn)
|
|
|
NM_006030.4(CACNA2D2):c.1764C>A (p.Asn588Lys)
|
rs1704960688
|
|
NM_006030.4(CACNA2D2):c.1777C>T (p.Arg593Cys)
|
rs2106640374
|
|
NM_006030.4(CACNA2D2):c.1780C>G (p.Arg594Gly)
|
|
|
NM_006030.4(CACNA2D2):c.1780C>T (p.Arg594Trp)
|
rs755251875
|
|
NM_006030.4(CACNA2D2):c.1784G>A (p.Ser595Asn)
|
|
|
NM_006030.4(CACNA2D2):c.1804G>A (p.Gly602Ser)
|
|
|
NM_006030.4(CACNA2D2):c.1837C>G (p.Leu613Val)
|
|
|
NM_006030.4(CACNA2D2):c.1847G>A (p.Arg616Lys)
|
rs371214569
|
|
NM_006030.4(CACNA2D2):c.1853T>C (p.Ile618Thr)
|
rs761780230
|
|
NM_006030.4(CACNA2D2):c.1867C>T (p.Arg623Trp)
|
|
|
NM_006030.4(CACNA2D2):c.1868G>A (p.Arg623Gln)
|
rs747103135
|
|
NM_006030.4(CACNA2D2):c.1895G>A (p.Ser632Asn)
|
rs1172417254
|
|
NM_006030.4(CACNA2D2):c.1907+3A>C
|
rs1263024687
|
|
NM_006030.4(CACNA2D2):c.1907+3A>G
|
|
|
NM_006030.4(CACNA2D2):c.1908-5C>G
|
rs377584163
|
|
NM_006030.4(CACNA2D2):c.1908-6C>A
|
|
|
NM_006030.4(CACNA2D2):c.1908C>T (p.Ser636=)
|
rs1235205217
|
|
NM_006030.4(CACNA2D2):c.1913G>T (p.Gly638Val)
|
rs1704885246
|
|
NM_006030.4(CACNA2D2):c.1937C>A (p.Thr646Asn)
|
rs2106637765
|
|
NM_006030.4(CACNA2D2):c.1941C>G (p.Phe647Leu)
|
|
|
NM_006030.4(CACNA2D2):c.1942T>A (p.Tyr648Asn)
|
rs1309933213
|
|
NM_006030.4(CACNA2D2):c.1985-10_1985-5del
|
|
|
NM_006030.4(CACNA2D2):c.1985-14C>A
|
rs769316124
|
|
NM_006030.4(CACNA2D2):c.2033T>C (p.Phe678Ser)
|
rs1704584718
|
|
NM_006030.4(CACNA2D2):c.2072C>T (p.Ser691Leu)
|
|
|
NM_006030.4(CACNA2D2):c.2075ACA[2] (p.Asn694del)
|
|
|
NM_006030.4(CACNA2D2):c.2113A>T (p.Met705Leu)
|
rs1266791814
|
|
NM_006030.4(CACNA2D2):c.2143+15G>C
|
|
|
NM_006030.4(CACNA2D2):c.2155C>A (p.Leu719Ile)
|
rs998005566
|
|
NM_006030.4(CACNA2D2):c.2155C>T (p.Leu719Phe)
|
rs998005566
|
|
NM_006030.4(CACNA2D2):c.2164A>G (p.Asn722Asp)
|
rs1704428309
|
|
NM_006030.4(CACNA2D2):c.216C>A (p.His72Gln)
|
rs375655663
|
|
NM_006030.4(CACNA2D2):c.2185A>G (p.Ile729Val)
|
|
|
NM_006030.4(CACNA2D2):c.2206C>T (p.Arg736Cys)
|
rs2109411511
|
|
NM_006030.4(CACNA2D2):c.2218G>A (p.Asp740Asn)
|
rs771379215
|
|
NM_006030.4(CACNA2D2):c.2218G>C (p.Asp740His)
|
rs771379215
|
|
NM_006030.4(CACNA2D2):c.2226T>A (p.Asp742Glu)
|
rs1311949403
|
|
NM_006030.4(CACNA2D2):c.2234C>G (p.Thr745Arg)
|
rs745793280
|
|
NM_006030.4(CACNA2D2):c.2251G>A (p.Val751Met)
|
|
|
NM_006030.4(CACNA2D2):c.2269G>A (p.Gly757Ser)
|
rs906863087
|
|
NM_006030.4(CACNA2D2):c.2297+3A>G
|
rs1320493372
|
|
NM_006030.4(CACNA2D2):c.2297+3_2297+6del
|
rs763922527
|
|
NM_006030.4(CACNA2D2):c.2297A>C (p.Lys766Thr)
|
rs368699159
|
|
NM_006030.4(CACNA2D2):c.2308G>A (p.Asp770Asn)
|
|
|
NM_006030.4(CACNA2D2):c.2324C>T (p.Pro775Leu)
|
|
|
NM_006030.4(CACNA2D2):c.2335A>G (p.Asn779Asp)
|
|
|
NM_006030.4(CACNA2D2):c.2336A>G (p.Asn779Ser)
|
rs780364290
|
|
NM_006030.4(CACNA2D2):c.2336A>T (p.Asn779Ile)
|
rs780364290
|
|
NM_006030.4(CACNA2D2):c.2353C>T (p.Arg785Cys)
|
|
|
NM_006030.4(CACNA2D2):c.2393A>C (p.His798Pro)
|
rs2109409052
|
|
NM_006030.4(CACNA2D2):c.23G>C (p.Cys8Ser)
|
rs1699068380
|
|
NM_006030.4(CACNA2D2):c.2401+3G>A
|
|
|
NM_006030.4(CACNA2D2):c.2425G>A (p.Glu809Lys)
|
rs1553726058
|
|
NM_006030.4(CACNA2D2):c.2449G>A (p.Val817Ile)
|
rs1346736959
|
|
NM_006030.4(CACNA2D2):c.247G>A (p.Gly83Ser)
|
rs775944051
|
|
NM_006030.4(CACNA2D2):c.2480G>A (p.Arg827Lys)
|
rs1704342142
|
|
NM_006030.4(CACNA2D2):c.2483G>A (p.Arg828His)
|
rs749804420
|
|
NM_006030.4(CACNA2D2):c.2486C>G (p.Thr829Arg)
|
rs1704341313
|
|
NM_006030.4(CACNA2D2):c.2500G>A (p.Val834Met)
|
|
|
NM_006030.4(CACNA2D2):c.2507G>A (p.Gly836Asp)
|
rs1704332560
|
|
NM_006030.4(CACNA2D2):c.2542T>A (p.Phe848Ile)
|
rs2109406246
|
|
NM_006030.4(CACNA2D2):c.254T>C (p.Met85Thr)
|
rs2107090176
|
|
NM_006030.4(CACNA2D2):c.2562C>A (p.Asn854Lys)
|
rs1704329016
|
|
NM_006030.4(CACNA2D2):c.2563C>T (p.Arg855Cys)
|
|
|
NM_006030.4(CACNA2D2):c.2589+5T>G
|
rs137987584
|
|
NM_006030.4(CACNA2D2):c.25G>T (p.Gly9Cys)
|
|
|
NM_006030.4(CACNA2D2):c.260T>G (p.Ile87Ser)
|
rs369985959
|
|
NM_006030.4(CACNA2D2):c.2616G>A (p.Met872Ile)
|
|
|
NM_006030.4(CACNA2D2):c.2637+4T>C
|
|
|
NM_006030.4(CACNA2D2):c.2650G>T (p.Val884Phe)
|
|
|
NM_006030.4(CACNA2D2):c.2656A>G (p.Ile886Val)
|
rs1575582780
|
|
NM_006030.4(CACNA2D2):c.2657T>C (p.Ile886Thr)
|
rs1704280651
|
|
NM_006030.4(CACNA2D2):c.2662G>A (p.Asp888Asn)
|
rs2109403552
|
|
NM_006030.4(CACNA2D2):c.2749C>A (p.Leu917Met)
|
rs778191917
|
|
NM_006030.4(CACNA2D2):c.2779C>G (p.Arg927Gly)
|
|
|
NM_006030.4(CACNA2D2):c.2779C>T (p.Arg927Cys)
|
|
|
NM_006030.4(CACNA2D2):c.2780G>A (p.Arg927His)
|
|
|
NM_006030.4(CACNA2D2):c.2792A>T (p.Tyr931Phe)
|
rs1704261817
|
|
NM_006030.4(CACNA2D2):c.281T>C (p.Leu94Pro)
|
rs2107089855
|
|
NM_006030.4(CACNA2D2):c.2831A>C (p.Asn944Thr)
|
rs745846272
|
|
NM_006030.4(CACNA2D2):c.2831A>G (p.Asn944Ser)
|
rs745846272
|
|
NM_006030.4(CACNA2D2):c.2836G>A (p.Gly946Ser)
|
rs2109402396
|
|
NM_006030.4(CACNA2D2):c.2862+3G>C
|
rs755446742
|
|
NM_006030.4(CACNA2D2):c.2863-12T>C
|
|
|
NM_006030.4(CACNA2D2):c.2869G>A (p.Val957Ile)
|
|
|
NM_006030.4(CACNA2D2):c.2870T>C (p.Val957Ala)
|
rs1704238568
|
|
NM_006030.4(CACNA2D2):c.2881C>G (p.Leu961Val)
|
rs1704237823
|
|
NM_006030.4(CACNA2D2):c.2905G>A (p.Ala969Thr)
|
rs1704236259
|
|
NM_006030.4(CACNA2D2):c.2916-10T>A
|
rs2109400627
|
|
NM_006030.4(CACNA2D2):c.2924T>C (p.Phe975Ser)
|
rs1259402386
|
|
NM_006030.4(CACNA2D2):c.2925C>A (p.Phe975Leu)
|
rs765246095
|
|
NM_006030.4(CACNA2D2):c.2949C>G (p.Ile983Met)
|
|
|
NM_006030.4(CACNA2D2):c.2971+4G>A
|
rs987690008
|
|
NM_006030.4(CACNA2D2):c.2990G>T (p.Gly997Val)
|
|
|
NM_006030.4(CACNA2D2):c.3011G>A (p.Ser1004Asn)
|
rs2109398960
|
|
NM_006030.4(CACNA2D2):c.3025A>G (p.Lys1009Glu)
|
rs1553725490
|
|
NM_006030.4(CACNA2D2):c.302A>G (p.Asn101Ser)
|
|
|
NM_006030.4(CACNA2D2):c.3068A>G (p.Asn1023Ser)
|
|
|
NM_006030.4(CACNA2D2):c.3078C>A (p.Ile1026=)
|
|
|
NM_006030.4(CACNA2D2):c.308A>G (p.Asn103Ser)
|
rs1708215334
|
|
NM_006030.4(CACNA2D2):c.3092G>A (p.Cys1031Tyr)
|
rs368251571
|
|
NM_006030.4(CACNA2D2):c.3099-3C>T
|
rs1393653379
|
|
NM_006030.4(CACNA2D2):c.3100C>G (p.Leu1034Val)
|
rs1704171518
|
|
NM_006030.4(CACNA2D2):c.3104T>G (p.Phe1035Cys)
|
rs2109397052
|
|
NM_006030.4(CACNA2D2):c.3137_3138delinsAA (p.Leu1046Gln)
|
rs1704168084
|
|
NM_006030.4(CACNA2D2):c.3147G>A (p.Val1049=)
|
rs750675114
|
|
NM_006030.4(CACNA2D2):c.3167G>C (p.Ser1056Thr)
|
rs1004241925
|
|
NM_006030.4(CACNA2D2):c.3185G>C (p.Arg1062Pro)
|
rs1704164021
|
|
NM_006030.4(CACNA2D2):c.318G>C (p.Glu106Asp)
|
|
|
NM_006030.4(CACNA2D2):c.3196_3198del (p.Lys1066del)
|
rs1381715737
|
|
NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met)
|
rs772333671
|
|
NM_006030.4(CACNA2D2):c.3205C>T (p.His1069Tyr)
|
|
|
NM_006030.4(CACNA2D2):c.3218C>A (p.Pro1073Gln)
|
rs753600233
|
|
NM_006030.4(CACNA2D2):c.3220G>A (p.Glu1074Lys)
|
rs1457696255
|
|
NM_006030.4(CACNA2D2):c.3235G>A (p.Val1079Met)
|
rs1704146379
|
|
NM_006030.4(CACNA2D2):c.3244C>A (p.Pro1082Thr)
|
|
|
NM_006030.4(CACNA2D2):c.3247C>T (p.Arg1083Ter)
|
|
|
NM_006030.4(CACNA2D2):c.3286G>A (p.Ala1096Thr)
|
rs587723974
|
|
NM_006030.4(CACNA2D2):c.3286G>C (p.Ala1096Pro)
|
rs587723974
|
|
NM_006030.4(CACNA2D2):c.3287C>T (p.Ala1096Val)
|
rs1575577799
|
|
NM_006030.4(CACNA2D2):c.3291+10G>A
|
|
|
NM_006030.4(CACNA2D2):c.3299C>T (p.Thr1100Ile)
|
rs144632207
|
|
NM_006030.4(CACNA2D2):c.3311G>T (p.Gly1104Val)
|
rs1704132686
|
|
NM_006030.4(CACNA2D2):c.3314G>A (p.Arg1105His)
|
rs1704132057
|
|
NM_006030.4(CACNA2D2):c.3326T>G (p.Phe1109Cys)
|
rs1333930695
|
|
NM_006030.4(CACNA2D2):c.3332C>T (p.Pro1111Leu)
|
rs1704130154
|
|
NM_006030.4(CACNA2D2):c.3385_3389dup (p.Gln1132fs)
|
rs2109394014
|
|
NM_006030.4(CACNA2D2):c.3388C>A (p.Arg1130=)
|
rs746798469
|
|
NM_006030.4(CACNA2D2):c.3392C>T (p.Pro1131Leu)
|
rs1559869119
|
|
NM_006030.4(CACNA2D2):c.3397C>T (p.Pro1133Ser)
|
|
|
NM_006030.4(CACNA2D2):c.3421_3430del (p.Arg1141fs)
|
rs2109393712
|
|
NM_006030.4(CACNA2D2):c.3424C>G (p.Arg1142Gly)
|
|
|
NM_006030.4(CACNA2D2):c.34C>G (p.Arg12Gly)
|
rs1274971927
|
|
NM_006030.4(CACNA2D2):c.34C>T (p.Arg12Trp)
|
rs1274971927
|
|
NM_006030.4(CACNA2D2):c.364G>A (p.Asp122Asn)
|
rs552824990
|
|
NM_006030.4(CACNA2D2):c.392T>G (p.Val131Gly)
|
|
|
NM_006030.4(CACNA2D2):c.427A>T (p.Asn143Tyr)
|
|
|
NM_006030.4(CACNA2D2):c.438A>T (p.Lys146Asn)
|
rs1706024755
|
|
NM_006030.4(CACNA2D2):c.463A>G (p.Lys155Glu)
|
rs1553734583
|
|
NM_006030.4(CACNA2D2):c.478G>C (p.Val160Leu)
|
rs779423998
|
|
NM_006030.4(CACNA2D2):c.485A>G (p.Tyr162Cys)
|
|
|
NM_006030.4(CACNA2D2):c.490G>A (p.Ala164Thr)
|
rs1434730003
|
|
NM_006030.4(CACNA2D2):c.490G>T (p.Ala164Ser)
|
|
|
NM_006030.4(CACNA2D2):c.493A>G (p.Lys165Glu)
|
|
|
NM_006030.4(CACNA2D2):c.50G>T (p.Arg17Leu)
|
rs1699066863
|
|
NM_006030.4(CACNA2D2):c.510+6C>T
|
rs2106702071
|
|
NM_006030.4(CACNA2D2):c.510G>T (p.Leu170=)
|
rs1705673244
|
|
NM_006030.4(CACNA2D2):c.516_527del (p.Asp172_Ser175del)
|
rs757552194
|
|
NM_006030.4(CACNA2D2):c.525T>G (p.Ser175Arg)
|
rs1705482371
|
|
NM_006030.4(CACNA2D2):c.541G>T (p.Gly181Trp)
|
rs1233532790
|
|
NM_006030.4(CACNA2D2):c.542G>A (p.Gly181Glu)
|
|
|
NM_006030.4(CACNA2D2):c.554G>C (p.Ser185Thr)
|
|
|
NM_006030.4(CACNA2D2):c.563G>A (p.Arg188Lys)
|
rs1705477226
|
|
NM_006030.4(CACNA2D2):c.573C>G (p.Phe191Leu)
|
rs1705476619
|
|
NM_006030.4(CACNA2D2):c.593A>G (p.Lys198Arg)
|
rs1705475378
|
|
NM_006030.4(CACNA2D2):c.610T>G (p.Ser204Ala)
|
rs1705473665
|
|
NM_006030.4(CACNA2D2):c.617C>A (p.Ala206Glu)
|
|
|
NM_006030.4(CACNA2D2):c.61C>T (p.Pro21Ser)
|
rs1575799173
|
|
NM_006030.4(CACNA2D2):c.62C>T (p.Pro21Leu)
|
rs1699066211
|
|
NM_006030.4(CACNA2D2):c.635C>T (p.Thr212Met)
|
|
|
NM_006030.4(CACNA2D2):c.653-19G>C
|
|
|
NM_006030.4(CACNA2D2):c.653-20A>G
|
|
|
NM_006030.4(CACNA2D2):c.658G>A (p.Val220Ile)
|
rs1203412706
|
|
NM_006030.4(CACNA2D2):c.678C>G (p.Asn226Lys)
|
rs1575605234
|
|
NM_006030.4(CACNA2D2):c.691C>G (p.Leu231Val)
|
|
|
NM_006030.4(CACNA2D2):c.700G>A (p.Val234Met)
|
rs902415770
|
|
NM_006030.4(CACNA2D2):c.707T>G (p.Met236Arg)
|
|
|
NM_006030.4(CACNA2D2):c.709G>C (p.Glu237Gln)
|
|
|
NM_006030.4(CACNA2D2):c.70G>C (p.Gly24Arg)
|
|
|
NM_006030.4(CACNA2D2):c.715C>T (p.Arg239Cys)
|
rs750610434
|
|
NM_006030.4(CACNA2D2):c.716G>A (p.Arg239His)
|
rs201610016
|
|
NM_006030.4(CACNA2D2):c.716G>T (p.Arg239Leu)
|
rs201610016
|
|
NM_006030.4(CACNA2D2):c.71G>C (p.Gly24Ala)
|
rs1431993863
|
|
NM_006030.4(CACNA2D2):c.727C>T (p.Pro243Ser)
|
rs2106670030
|
|
NM_006030.4(CACNA2D2):c.773G>A (p.Arg258His)
|
|
|
NM_006030.4(CACNA2D2):c.785-3C>T
|
rs1575604704
|
|
NM_006030.4(CACNA2D2):c.842+6C>A
|
rs775272200
|
|
NM_006030.4(CACNA2D2):c.860C>T (p.Ser287Leu)
|
rs760340682
|
|
NM_006030.4(CACNA2D2):c.870A>T (p.Lys290Asn)
|
rs2106664203
|
|
NM_006030.4(CACNA2D2):c.880ATC[1] (p.Ile295del)
|
rs1705217505
|
|
NM_006030.4(CACNA2D2):c.885_890dup (p.Val298_Ser299insAspVal)
|
|
|
NM_006030.4(CACNA2D2):c.893+3G>C
|
rs2106664058
|
|
NM_006030.4(CACNA2D2):c.893+6T>G
|
rs1705217008
|
|
NM_006030.4(CACNA2D2):c.896G>A (p.Ser299Asn)
|
rs769848295
|
|
NM_006030.4(CACNA2D2):c.946G>A (p.Glu316Lys)
|
|
|
NM_006030.4(CACNA2D2):c.971A>G (p.Asp324Gly)
|
rs1341700300
|
|
NM_006030.4(CACNA2D2):c.979G>A (p.Val327Met)
|
rs1705203478
|
|
NM_006279.5(ST3GAL3):c.1007A>G (p.Tyr336Cys)
|
rs1408543954
|
|
NM_006279.5(ST3GAL3):c.1018C>T (p.Arg340Cys)
|
|
|
NM_006279.5(ST3GAL3):c.1030A>G (p.Ile344Val)
|
rs2082919594
|
|
NM_006279.5(ST3GAL3):c.1038+3T>G
|
rs2082921384
|
|
NM_006279.5(ST3GAL3):c.1038+5G>A
|
|
|
NM_006279.5(ST3GAL3):c.1057C>G (p.Gln353Glu)
|
|
|
NM_006279.5(ST3GAL3):c.1057del (p.Gln353fs)
|
|
|
NM_006279.5(ST3GAL3):c.1093G>A (p.Ala365Thr)
|
rs2084833168
|
|
NM_006279.5(ST3GAL3):c.1105A>G (p.Thr369Ala)
|
rs142076884
|
|
NM_006279.5(ST3GAL3):c.1105A>T (p.Thr369Ser)
|
|
|
NM_006279.5(ST3GAL3):c.1117A>G (p.Ser373Gly)
|
rs2084840723
|
|
NM_006279.5(ST3GAL3):c.118+3A>G
|
|
|
NM_006279.5(ST3GAL3):c.118+6T>C
|
|
|
NM_006279.5(ST3GAL3):c.165A>G (p.Ser55=)
|
rs778787798
|
|
NM_006279.5(ST3GAL3):c.173A>G (p.Asp58Gly)
|
|
|
NM_006279.5(ST3GAL3):c.191T>C (p.Leu64Pro)
|
rs2154177128
|
|
NM_006279.5(ST3GAL3):c.209+18A>G
|
rs2154177164
|
|
NM_006279.5(ST3GAL3):c.210-4A>G
|
rs2064759817
|
|
NM_006279.5(ST3GAL3):c.233A>G (p.Tyr78Cys)
|
|
|
NM_006279.5(ST3GAL3):c.23G>A (p.Arg8His)
|
rs900948973
|
|
NM_006279.5(ST3GAL3):c.23G>T (p.Arg8Leu)
|
|
|
NM_006279.5(ST3GAL3):c.244T>A (p.Ser82Thr)
|
rs201552654
|
|
NM_006279.5(ST3GAL3):c.251G>A (p.Gly84Glu)
|
rs1461836458
|
|
NM_006279.5(ST3GAL3):c.322A>G (p.Met108Val)
|
rs1243539234
|
|
NM_006279.5(ST3GAL3):c.343C>G (p.Arg115Gly)
|
rs948699026
|
|
NM_006279.5(ST3GAL3):c.343C>T (p.Arg115Cys)
|
rs948699026
|
|
NM_006279.5(ST3GAL3):c.344G>T (p.Arg115Leu)
|
rs767108992
|
|
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn)
|
rs1365012948
|
|
NM_006279.5(ST3GAL3):c.361C>T (p.Arg121Trp)
|
|
|
NM_006279.5(ST3GAL3):c.367T>G (p.Phe123Val)
|
rs2077083981
|
|
NM_006279.5(ST3GAL3):c.396A>G (p.Gln132=)
|
rs1558764772
|
|
NM_006279.5(ST3GAL3):c.3G>A (p.Met1Ile)
|
rs2154091793
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
|
NM_006279.5(ST3GAL3):c.440G>T (p.Arg147Leu)
|
rs138616798
|
|
NM_006279.5(ST3GAL3):c.451G>T (p.Ala151Ser)
|
rs2077687448
|
|
NM_006279.5(ST3GAL3):c.469T>C (p.Cys157Arg)
|
rs2154270553
|
|
NM_006279.5(ST3GAL3):c.470G>A (p.Cys157Tyr)
|
rs2154270555
|
|
NM_006279.5(ST3GAL3):c.487G>A (p.Val163Met)
|
|
|
NM_006279.5(ST3GAL3):c.508G>A (p.Ala170Thr)
|
|
|
NM_006279.5(ST3GAL3):c.514A>C (p.Lys172Gln)
|
|
|
NM_006279.5(ST3GAL3):c.527C>T (p.Ser176Leu)
|
|
|
NM_006279.5(ST3GAL3):c.532A>G (p.Ile178Val)
|
rs1558785126
|
|
NM_006279.5(ST3GAL3):c.542A>G (p.Tyr181Cys)
|
rs779424250
|
|
NM_006279.5(ST3GAL3):c.58C>G (p.Leu20Val)
|
rs1678418453
|
|
NM_006279.5(ST3GAL3):c.607A>C (p.Thr203Pro)
|
rs1363218656
|
|
NM_006279.5(ST3GAL3):c.611C>T (p.Thr204Ile)
|
rs2077939695
|
|
NM_006279.5(ST3GAL3):c.616C>T (p.Arg206Cys)
|
rs2077941741
|
|
NM_006279.5(ST3GAL3):c.619A>G (p.Ile207Val)
|
rs2077943464
|
|
NM_006279.5(ST3GAL3):c.625T>C (p.Tyr209His)
|
rs1558787813
|
|
NM_006279.5(ST3GAL3):c.667G>A (p.Asp223Asn)
|
|
|
NM_006279.5(ST3GAL3):c.668A>T (p.Asp223Val)
|
|
|
NM_006279.5(ST3GAL3):c.669T>G (p.Asp223Glu)
|
|
|
NM_006279.5(ST3GAL3):c.685G>A (p.Ala229Thr)
|
rs986849607
|
|
NM_006279.5(ST3GAL3):c.688G>A (p.Gly230Ser)
|
|
|
NM_006279.5(ST3GAL3):c.748G>C (p.Ala250Pro)
|
|
|
NM_006279.5(ST3GAL3):c.751T>A (p.Ser251Thr)
|
rs2082833114
|
|
NM_006279.5(ST3GAL3):c.80C>T (p.Ala27Val)
|
rs751825349
|
|
NM_006279.5(ST3GAL3):c.823T>C (p.Tyr275His)
|
rs1553140040
|
|
NM_006279.5(ST3GAL3):c.824A>G (p.Tyr275Cys)
|
rs2082844238
|
|
NM_006279.5(ST3GAL3):c.835G>A (p.Glu279Lys)
|
rs2154295065
|
|
NM_006279.5(ST3GAL3):c.886C>T (p.Arg296Trp)
|
|
|
NM_006279.5(ST3GAL3):c.889G>C (p.Gly297Arg)
|
|
|
NM_006279.5(ST3GAL3):c.937G>C (p.Gly313Arg)
|
|
|
NM_006279.5(ST3GAL3):c.942T>G (p.Cys314Trp)
|
rs2082902937
|
|
NM_006279.5(ST3GAL3):c.983C>A (p.Thr328Lys)
|
rs2154295292
|
|
NM_014191.4(SCN8A):c.630T>G (p.Phe210Leu)
|
|
|
NM_014191.4(SCN8A):c.658C>T (p.Arg220Cys)
|
|
|
NM_014191.4(SCN8A):c.660C>T (p.Arg220=)
|
rs972774428
|
|
NM_014191.4(SCN8A):c.680C>T (p.Ala227Val)
|
|
|
NM_014191.4(SCN8A):c.695C>T (p.Ser232Leu)
|
|
|
NM_014191.4(SCN8A):c.700A>G (p.Ile234Val)
|
rs2138716234
|
|
NM_020988.3(GNAO1):c.1009G>A (p.Asp337Asn)
|
|
|
NM_020988.3(GNAO1):c.1021G>A (p.Asp341Asn)
|
|
|
NM_020988.3(GNAO1):c.1045C>T (p.Arg349Trp)
|
rs2143705059
|
|
NM_020988.3(GNAO1):c.1046G>A (p.Arg349Gln)
|
|
|
NM_020988.3(GNAO1):c.116T>C (p.Leu39Pro)
|
rs1555499769
|
|
NM_020988.3(GNAO1):c.117C>T (p.Leu39=)
|
rs747565910
|
|
NM_020988.3(GNAO1):c.121G>A (p.Ala41Thr)
|
rs2036187623
|
|
NM_020988.3(GNAO1):c.145A>C (p.Ile49Leu)
|
rs763223472
|
|
NM_020988.3(GNAO1):c.196G>A (p.Val66Met)
|
|
|
NM_020988.3(GNAO1):c.229A>G (p.Thr77Ala)
|
|
|
NM_020988.3(GNAO1):c.22GAG[1] (p.Glu9del)
|
|
|
NM_020988.3(GNAO1):c.232A>C (p.Ile78Leu)
|
rs1263683170
|
|
NM_020988.3(GNAO1):c.259G>T (p.Ala87Ser)
|
|
|
NM_020988.3(GNAO1):c.262A>G (p.Met88Val)
|
rs1555504233
|
|
NM_020988.3(GNAO1):c.262A>T (p.Met88Leu)
|
|
|
NM_020988.3(GNAO1):c.286G>C (p.Gly96Arg)
|
|
|
NM_020988.3(GNAO1):c.287G>C (p.Gly96Ala)
|
|
|
NM_020988.3(GNAO1):c.290A>G (p.Asp97Gly)
|
rs778669032
|
|
NM_020988.3(GNAO1):c.303+6C>T
|
rs1555504237
|
|
NM_020988.3(GNAO1):c.354G>C (p.Glu118Asp)
|
rs1567485534
|
|
NM_020988.3(GNAO1):c.388C>T (p.Arg130Trp)
|
rs539662922
|
|
NM_020988.3(GNAO1):c.397G>C (p.Gly133Arg)
|
rs374115337
|
|
NM_020988.3(GNAO1):c.415G>A (p.Glu139Lys)
|
|
|
NM_020988.3(GNAO1):c.425A>C (p.Asn142Thr)
|
|
|
NM_020988.3(GNAO1):c.428G>T (p.Arg143Leu)
|
rs777414554
|
|
NM_020988.3(GNAO1):c.434G>A (p.Arg145Gln)
|
|
|
NM_020988.3(GNAO1):c.464+5G>A
|
rs2143647379
|
|
NM_020988.3(GNAO1):c.465-11G>T
|
|
|
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro)
|
rs2143660444
|
|
NM_020988.3(GNAO1):c.484C>G (p.Arg162Gly)
|
|
|
NM_020988.3(GNAO1):c.485G>A (p.Arg162Gln)
|
|
|
NM_020988.3(GNAO1):c.485G>T (p.Arg162Leu)
|
|
|
NM_020988.3(GNAO1):c.497C>T (p.Ala166Val)
|
|
|
NM_020988.3(GNAO1):c.501C>A (p.Asp167Glu)
|
|
|
NM_020988.3(GNAO1):c.520G>A (p.Asp174Asn)
|
rs1567488305
|
|
NM_020988.3(GNAO1):c.553A>G (p.Ile185Val)
|
rs2143660738
|
|
NM_020988.3(GNAO1):c.556G>A (p.Val186Ile)
|
|
|
NM_020988.3(GNAO1):c.563C>T (p.Thr188Ile)
|
|
|
NM_020988.3(GNAO1):c.56T>A (p.Ile19Asn)
|
|
|
NM_020988.3(GNAO1):c.593+6G>A
|
rs367545187
|
|
NM_020988.3(GNAO1):c.614A>T (p.Gln205Leu)
|
|
|
NM_020988.3(GNAO1):c.622G>C (p.Glu208Gln)
|
|
|
NM_020988.3(GNAO1):c.636G>T (p.Trp212Cys)
|
|
|
NM_020988.3(GNAO1):c.655G>A (p.Val219Ile)
|
rs2037744218
|
|
NM_020988.3(GNAO1):c.659C>T (p.Thr220Met)
|
|
|
NM_020988.3(GNAO1):c.67C>T (p.Leu23Phe)
|
|
|
NM_020988.3(GNAO1):c.687C>A (p.Ser229Arg)
|
rs546569747
|
|
NM_020988.3(GNAO1):c.694G>A (p.Asp232Asn)
|
|
|
NM_020988.3(GNAO1):c.715G>A (p.Glu239Lys)
|
|
|
NM_020988.3(GNAO1):c.727C>T (p.Arg243Cys)
|
|
|
NM_020988.3(GNAO1):c.728G>A (p.Arg243His)
|
|
|
NM_020988.3(GNAO1):c.728G>T (p.Arg243Leu)
|
|
|
NM_020988.3(GNAO1):c.764G>A (p.Cys255Tyr)
|
|
|
NM_020988.3(GNAO1):c.76G>A (p.Asp26Asn)
|
rs2143270433
|
|
NM_020988.3(GNAO1):c.791C>T (p.Ser264Phe)
|
|
|
NM_020988.3(GNAO1):c.809A>C (p.Asn270Thr)
|
rs1596881854
|
|
NM_020988.3(GNAO1):c.811A>G (p.Lys271Glu)
|
rs1555508311
|
|
NM_020988.3(GNAO1):c.842A>C (p.Lys281Thr)
|
|
|
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe)
|
rs1386785579
|
|
NM_020988.3(GNAO1):c.863T>C (p.Phe288Ser)
|
rs2143699786
|
|
NM_020988.3(GNAO1):c.870A>T (p.Glu290Asp)
|
|
|
NM_020988.3(GNAO1):c.877+6T>C
|
|
|
NM_020988.3(GNAO1):c.894A>T (p.Glu298Asp)
|
rs2037953814
|
|
NM_020988.3(GNAO1):c.89C>T (p.Ala30Val)
|
rs2143270471
|
|
NM_020988.3(GNAO1):c.911T>A (p.Ile304Asn)
|
|
|
NM_020988.3(GNAO1):c.938G>A (p.Arg313His)
|
rs2143704815
|
|
NM_020988.3(GNAO1):c.944C>T (p.Pro315Leu)
|
|
|
NM_020988.3(GNAO1):c.957A>G (p.Ile319Met)
|
|
|
NM_020988.3(GNAO1):c.990_992del (p.Asn331del)
|
|
|
NM_021072.3(HCN1):c.-25_1230+?dup1255
|
|
|
NM_021072.4(HCN1):c.-189_221del (p.Met1fs)
|
rs1580055165
|
|
NM_021072.4(HCN1):c.-25_425del (p.Met1_Arg142del)
|
rs1739994846
|
|
NM_021072.4(HCN1):c.1008G>C (p.Met336Ile)
|
rs1051256215
|
|
NM_021072.4(HCN1):c.101C>T (p.Ala34Val)
|
rs1740005052
|
|
NM_021072.4(HCN1):c.1025dup (p.Gln344fs)
|
|
|
NM_021072.4(HCN1):c.1028A>G (p.Lys343Arg)
|
rs2112040825
|
|
NM_021072.4(HCN1):c.102G>A (p.Ala34=)
|
rs2112109599
|
|
NM_021072.4(HCN1):c.1041C>A (p.Tyr347Ter)
|
|
|
NM_021072.4(HCN1):c.1045C>G (p.Leu349Val)
|
|
|
NM_021072.4(HCN1):c.104C>T (p.Ala35Val)
|
|
|
NM_021072.4(HCN1):c.1068G>T (p.Met356Ile)
|
|
|
NM_021072.4(HCN1):c.106G>C (p.Glu36Gln)
|
|
|
NM_021072.4(HCN1):c.107A>C (p.Glu36Ala)
|
rs2112109568
|
|
NM_021072.4(HCN1):c.107A>G (p.Glu36Gly)
|
rs2112109568
|
|
NM_021072.4(HCN1):c.1109C>T (p.Ser370Phe)
|
rs2112040755
|
|
NM_021072.4(HCN1):c.1129C>G (p.Leu377Val)
|
rs2112040746
|
|
NM_021072.4(HCN1):c.112C>A (p.Arg38Ser)
|
rs2112109560
|
|
NM_021072.4(HCN1):c.113G>A (p.Arg38His)
|
|
|
NM_021072.4(HCN1):c.1145G>C (p.Gly382Ala)
|
rs1579867065
|
|
NM_021072.4(HCN1):c.1147G>A (p.Ala383Thr)
|
rs1739692080
|
|
NM_021072.4(HCN1):c.1151C>T (p.Thr384Ile)
|
|
|
NM_021072.4(HCN1):c.1156_1158dup (p.Tyr386dup)
|
rs2112040700
|
|
NM_021072.4(HCN1):c.1173_1174del (p.His392fs)
|
rs1739691445
|
|
NM_021072.4(HCN1):c.1175A>C (p.His392Pro)
|
|
|
NM_021072.4(HCN1):c.1190T>A (p.Ile397Asn)
|
|
|
NM_021072.4(HCN1):c.1190T>G (p.Ile397Ser)
|
rs2112040625
|
|
NM_021072.4(HCN1):c.1201G>A (p.Asp401Asn)
|
rs587777491
|
|
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln)
|
rs1351333514
|
|
NM_021072.4(HCN1):c.1216C>G (p.Gln406Glu)
|
rs2112040583
|
|
NM_021072.4(HCN1):c.1227G>C (p.Glu409Asp)
|
rs2112040574
|
|
NM_021072.4(HCN1):c.1228A>G (p.Lys410Glu)
|
rs2112040568
|
|
NM_021072.4(HCN1):c.1229A>G (p.Lys410Arg)
|
rs2112040564
|
|
NM_021072.4(HCN1):c.1230+1G>T
|
rs1739690273
|
|
NM_021072.4(HCN1):c.1230+4A>C
|
|
|
NM_021072.4(HCN1):c.1232A>G (p.Tyr411Cys)
|
rs2111983203
|
|
NM_021072.4(HCN1):c.1233T>G (p.Tyr411Ter)
|
|
|
NM_021072.4(HCN1):c.1260C>G (p.Phe420Leu)
|
|
|
NM_021072.4(HCN1):c.1266G>T (p.Lys422Asn)
|
|
|
NM_021072.4(HCN1):c.1283G>A (p.Arg428His)
|
rs1265198753
|
|
NM_021072.4(HCN1):c.128C>A (p.Pro43Gln)
|
|
|
NM_021072.4(HCN1):c.1297G>T (p.Asp433Tyr)
|
|
|
NM_021072.4(HCN1):c.129G>A (p.Pro43=)
|
rs1250800401
|
|
NM_021072.4(HCN1):c.1306G>A (p.Glu436Lys)
|
rs1746946756
|
|
NM_021072.4(HCN1):c.1309C>G (p.His437Asp)
|
|
|
NM_021072.4(HCN1):c.130G>C (p.Gly44Arg)
|
rs1421975269
|
|
NM_021072.4(HCN1):c.130G>T (p.Gly44Trp)
|
rs1421975269
|
|
NM_021072.4(HCN1):c.1336G>A (p.Glu446Lys)
|
rs1234068441
|
|
NM_021072.4(HCN1):c.1338G>T (p.Glu446Asp)
|
rs878855067
|
|
NM_021072.4(HCN1):c.1339G>T (p.Glu447Ter)
|
rs2111983087
|
|
NM_021072.4(HCN1):c.1361A>G (p.Asn454Ser)
|
|
|
NM_021072.4(HCN1):c.1375G>C (p.Glu459Gln)
|
rs1375816918
|
|
NM_021072.4(HCN1):c.1377+6A>T
|
|
|
NM_021072.4(HCN1):c.1380G>T (p.Glu460Asp)
|
|
|
NM_021072.4(HCN1):c.1382T>C (p.Ile461Thr)
|
rs966376899
|
|
NM_021072.4(HCN1):c.1399C>T (p.Arg467Trp)
|
rs1745674495
|
|
NM_021072.4(HCN1):c.139G>A (p.Gly47Arg)
|
|
|
NM_021072.4(HCN1):c.1400G>C (p.Arg467Pro)
|
rs773990933
|
|
NM_021072.4(HCN1):c.1435G>A (p.Ala479Thr)
|
|
|
NM_021072.4(HCN1):c.1445del (p.Asn482fs)
|
rs1745673600
|
|
NM_021072.4(HCN1):c.145G>A (p.Gly49Ser)
|
|
|
NM_021072.4(HCN1):c.1462C>A (p.Leu488Met)
|
rs2111905061
|
|
NM_021072.4(HCN1):c.1466G>A (p.Ser489Asn)
|
rs1745673386
|
|
NM_021072.4(HCN1):c.1475G>A (p.Arg492Lys)
|
|
|
NM_021072.4(HCN1):c.149C>T (p.Ala50Val)
|
|
|
NM_021072.4(HCN1):c.1511G>A (p.Arg504Gln)
|
rs2111904958
|
|
NM_021072.4(HCN1):c.1519G>T (p.Ala507Ser)
|
|
|
NM_021072.4(HCN1):c.1522G>T (p.Val508Leu)
|
rs180790607
|
|
NM_021072.4(HCN1):c.1528A>G (p.Lys510Glu)
|
|
|
NM_021072.4(HCN1):c.1534dup (p.Met512fs)
|
rs772669067
|
|
NM_021072.4(HCN1):c.1536G>A (p.Met512Ile)
|
rs2111904917
|
|
NM_021072.4(HCN1):c.1540T>C (p.Phe514Leu)
|
rs2111904910
|
|
NM_021072.4(HCN1):c.1543A>G (p.Ile515Val)
|
|
|
NM_021072.4(HCN1):c.1570A>G (p.Thr524Ala)
|
rs1561096281
|
|
NM_021072.4(HCN1):c.1580G>C (p.Ser527Thr)
|
|
|
NM_021072.4(HCN1):c.1610_1613del (p.Tyr537fs)
|
rs2111904787
|
|
NM_021072.4(HCN1):c.1618+6T>C
|
|
|
NM_021072.4(HCN1):c.166T>A (p.Ser56Thr)
|
|
|
NM_021072.4(HCN1):c.1679G>A (p.Arg560His)
|
rs1744875525
|
|
NM_021072.4(HCN1):c.1691T>C (p.Leu564Pro)
|
|
|
NM_021072.4(HCN1):c.1696G>A (p.Val566Met)
|
rs766943052
|
|
NM_021072.4(HCN1):c.1696G>T (p.Val566Leu)
|
|
|
NM_021072.4(HCN1):c.1709A>G (p.Asn570Ser)
|
|
|
NM_021072.4(HCN1):c.1742G>A (p.Arg581Lys)
|
|
|
NM_021072.4(HCN1):c.1742G>C (p.Arg581Thr)
|
|
|
NM_021072.4(HCN1):c.1780A>G (p.Ile594Val)
|
rs1579766327
|
|
NM_021072.4(HCN1):c.1782A>T (p.Ile594=)
|
|
|
NM_021072.4(HCN1):c.1783+4C>G
|
rs188586020
|
|
NM_021072.4(HCN1):c.1783+6C>A
|
|
|
NM_021072.4(HCN1):c.1793A>G (p.Asn598Ser)
|
|
|
NM_021072.4(HCN1):c.1798A>G (p.Ile600Val)
|
rs2111840202
|
|
NM_021072.4(HCN1):c.1798A>T (p.Ile600Phe)
|
|
|
NM_021072.4(HCN1):c.1805T>C (p.Leu602Pro)
|
|
|
NM_021072.4(HCN1):c.1816C>T (p.Gln606Ter)
|
rs2111840186
|
|
NM_021072.4(HCN1):c.1857C>A (p.Asn619Lys)
|
rs754531784
|
|
NM_021072.4(HCN1):c.1857C>G (p.Asn619Lys)
|
rs754531784
|
|
NM_021072.4(HCN1):c.1864C>T (p.Leu622Phe)
|
|
|
NM_021072.4(HCN1):c.1883A>C (p.His628Pro)
|
|
|
NM_021072.4(HCN1):c.1896G>T (p.Met632Ile)
|
rs1226802525
|
|
NM_021072.4(HCN1):c.1900C>A (p.Gln634Lys)
|
rs1561079474
|
|
NM_021072.4(HCN1):c.1916T>A (p.Ile639Asn)
|
|
|
NM_021072.4(HCN1):c.1925C>T (p.Pro642Leu)
|
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[4] (p.Gly69_Gly74dup)
|
rs56064803
|
|
NM_021072.4(HCN1):c.192_215dup (p.Gly67_Gly74dup)
|
rs1554040132
|
|
NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)
|
|
|
NM_021072.4(HCN1):c.1952C>T (p.Ser651Leu)
|
|
|
NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys)
|
|
|
NM_021072.4(HCN1):c.195CGG[3] (p.Gly74dup)
|
rs1193693102
|
|
NM_021072.4(HCN1):c.1960A>G (p.Thr654Ala)
|
rs1744773562
|
|
NM_021072.4(HCN1):c.1966C>A (p.Pro656Thr)
|
rs1744773336
|
|
NM_021072.4(HCN1):c.1981A>T (p.Arg661Trp)
|
|
|
NM_021072.4(HCN1):c.1989A>T (p.Gln663His)
|
|
|
NM_021072.4(HCN1):c.1991C>T (p.Ser664Phe)
|
|
|
NM_021072.4(HCN1):c.1993C>T (p.Pro665Ser)
|
|
|
NM_021072.4(HCN1):c.1998G>A (p.Pro666=)
|
rs758849997
|
|
NM_021072.4(HCN1):c.199G>A (p.Gly67Ser)
|
|
|
NM_021072.4(HCN1):c.2009C>A (p.Ala670Glu)
|
rs142280884
|
|
NM_021072.4(HCN1):c.2018T>A (p.Leu673Gln)
|
|
|
NM_021072.4(HCN1):c.201_218del (p.Gly69_Gly74del)
|
rs774065762
|
|
NM_021072.4(HCN1):c.201_218dup (p.Gly69_Gly74dup)
|
rs774065762
|
|
NM_021072.4(HCN1):c.2038T>C (p.Ser680Pro)
|
|
|
NM_021072.4(HCN1):c.203G>A (p.Gly68Asp)
|
|
|
NM_021072.4(HCN1):c.203GCG[11] (p.Gly71_Gly74dup)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[13] (p.Gly74_Glu75insGlyGlyGlyGlyGlyGly)
|
|
|
NM_021072.4(HCN1):c.203GCG[3] (p.Gly71_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[9] (p.Gly73_Gly74dup)
|
rs747975797
|
|
NM_021072.4(HCN1):c.2045G>C (p.Ser682Thr)
|
|
|
NM_021072.4(HCN1):c.2048C>T (p.Pro683Leu)
|
rs2111839618
|
|
NM_021072.4(HCN1):c.204_205insAGCCTCAGCTTCAGCACCAGCCGCACCGGAGCCCGGACCGCAGCCACTAAG (p.Gly68_Gly69insSerLeuSerPheSerThrSerArgThrGlyAlaArgThrAlaAlaThrLys)
|
|
|
NM_021072.4(HCN1):c.2050A>C (p.Ser684Arg)
|
|
|
NM_021072.4(HCN1):c.2062C>A (p.Pro688Thr)
|
rs779436110
|
|
NM_021072.4(HCN1):c.2062C>T (p.Pro688Ser)
|
rs779436110
|
|
NM_021072.4(HCN1):c.2063C>T (p.Pro688Leu)
|
|
|
NM_021072.4(HCN1):c.2066A>C (p.Gln689Pro)
|
|
|
NM_021072.4(HCN1):c.2068C>A (p.Pro690Thr)
|
|
|
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly)
|
rs1561079301
|
|
NM_021072.4(HCN1):c.2080C>G (p.Leu694Val)
|
rs1222433760
|
|
NM_021072.4(HCN1):c.209G>A (p.Gly70Asp)
|
|
|
NM_021072.4(HCN1):c.20C>G (p.Pro7Arg)
|
|
|
NM_021072.4(HCN1):c.2106G>A (p.Ala702=)
|
rs1344539030
|
|
NM_021072.4(HCN1):c.2111G>A (p.Cys704Tyr)
|
rs1293827335
|
|
NM_021072.4(HCN1):c.2122G>A (p.Val708Ile)
|
|
|
NM_021072.4(HCN1):c.2125_2126del (p.Gln709fs)
|
rs1744766400
|
|
NM_021072.4(HCN1):c.214G>A (p.Gly72Ser)
|
|
|
NM_021072.4(HCN1):c.2161T>A (p.Ser721Thr)
|
|
|
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)
|
rs2111839334
|
|
NM_021072.4(HCN1):c.216_224dup (p.Gly74_Glu75insAspGlyGly)
|
rs2112109175
|
|
NM_021072.4(HCN1):c.2170G>T (p.Ala724Ser)
|
rs141383188
|
|
NM_021072.4(HCN1):c.2173T>A (p.Ser725Thr)
|
|
|
NM_021072.4(HCN1):c.2180T>C (p.Leu727Pro)
|
|
|
NM_021072.4(HCN1):c.2189T>C (p.Met730Thr)
|
rs1744764294
|
|
NM_021072.4(HCN1):c.2210A>T (p.Gln737Leu)
|
|
|
NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg)
|
rs1418945597
|
|
NM_021072.4(HCN1):c.2237C>T (p.Thr746Ile)
|
|
|
NM_021072.4(HCN1):c.223_224insTCG (p.Gly74_Glu75insVal)
|
|
|
NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)
|
|
|
NM_021072.4(HCN1):c.2248C>G (p.Gln750Glu)
|
|
|
NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)
|
|
|
NM_021072.4(HCN1):c.2258C>T (p.Pro753Leu)
|
|
|
NM_021072.4(HCN1):c.225G>C (p.Glu75Asp)
|
rs2112109170
|
|
NM_021072.4(HCN1):c.2261A>G (p.Gln754Arg)
|
rs2111839088
|
|
NM_021072.4(HCN1):c.2279G>C (p.Ser760Thr)
|
rs1744761859
|
|
NM_021072.4(HCN1):c.2288C>G (p.Pro763Arg)
|
rs1437053801
|
|
NM_021072.4(HCN1):c.2296G>A (p.Glu766Lys)
|
|
|
NM_021072.4(HCN1):c.2302C>G (p.His768Asp)
|
rs760215449
|
|
NM_021072.4(HCN1):c.2303A>G (p.His768Arg)
|
rs1561079128
|
|
NM_021072.4(HCN1):c.2314C>G (p.Gln772Glu)
|
|
|
NM_021072.4(HCN1):c.2318C>G (p.Ala773Gly)
|
|
|
NM_021072.4(HCN1):c.2329A>G (p.Thr777Ala)
|
rs1307516754
|
|
NM_021072.4(HCN1):c.2339C>T (p.Thr780Ile)
|
|
|
NM_021072.4(HCN1):c.2351G>A (p.Arg784Lys)
|
|
|
NM_021072.4(HCN1):c.2375C>T (p.Ser792Leu)
|
|
|
NM_021072.4(HCN1):c.238G>T (p.Gly80Cys)
|
rs754990881
|
|
NM_021072.4(HCN1):c.2396C>T (p.Thr799Ile)
|
rs766397326
|
|
NM_021072.4(HCN1):c.239del (p.Gly80fs)
|
|
|
NM_021072.4(HCN1):c.2404T>C (p.Ser802Pro)
|
rs1461281527
|
|
NM_021072.4(HCN1):c.2405C>G (p.Ser802Cys)
|
rs1744759169
|
|
NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser)
|
rs1244303801
|
|
NM_021072.4(HCN1):c.2445_2447dup (p.Pro816_Gln817insPro)
|
|
|
NM_021072.4(HCN1):c.2447C>G (p.Pro816Arg)
|
rs1413473165
|
|
NM_021072.4(HCN1):c.2455G>A (p.Val819Met)
|
|
|
NM_021072.4(HCN1):c.2459_2460insCCT (p.Thr820_Ala821insLeu)
|
|
|
NM_021072.4(HCN1):c.2477G>A (p.Gly826Asp)
|
rs1204287489
|
|
NM_021072.4(HCN1):c.2488G>A (p.Gly830Arg)
|
rs1484753978
|
|
NM_021072.4(HCN1):c.2492G>T (p.Gly831Val)
|
|
|
NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys)
|
rs199887416
|
|
NM_021072.4(HCN1):c.2495G>C (p.Arg832Thr)
|
rs199887416
|
|
NM_021072.4(HCN1):c.2499C>A (p.Ser833Arg)
|
|
|
NM_021072.4(HCN1):c.2515G>T (p.Val839Phe)
|
rs1328423751
|
|
NM_021072.4(HCN1):c.2527C>G (p.Arg843Gly)
|
rs1046832984
|
|
NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln)
|
|
|
NM_021072.4(HCN1):c.2540C>G (p.Ser847Trp)
|
|
|
NM_021072.4(HCN1):c.2545G>T (p.Ala849Ser)
|
|
|
NM_021072.4(HCN1):c.2551C>G (p.Pro851Ala)
|
|
|
NM_021072.4(HCN1):c.2551C>T (p.Pro851Ser)
|
|
|
NM_021072.4(HCN1):c.2555C>G (p.Pro852Arg)
|
|
|
NM_021072.4(HCN1):c.2555C>T (p.Pro852Leu)
|
|
|
NM_021072.4(HCN1):c.2559C>A (p.Asn853Lys)
|
rs140186173
|
|
NM_021072.4(HCN1):c.2559C>G (p.Asn853Lys)
|
|
|
NM_021072.4(HCN1):c.2564G>A (p.Gly855Glu)
|
rs755932633
|
|
NM_021072.4(HCN1):c.2566G>C (p.Val856Leu)
|
|
|
NM_021072.4(HCN1):c.2571del (p.Pro858fs)
|
|
|
NM_021072.4(HCN1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_021072.4(HCN1):c.2590G>A (p.Ala864Thr)
|
|
|
NM_021072.4(HCN1):c.2605A>G (p.Arg869Gly)
|
|
|
NM_021072.4(HCN1):c.2612C>T (p.Ser871Phe)
|
rs1744747998
|
|
NM_021072.4(HCN1):c.2620G>C (p.Val874Leu)
|
|
|
NM_021072.4(HCN1):c.2636C>G (p.Pro879Arg)
|
|
|
NM_021072.4(HCN1):c.2636C>T (p.Pro879Leu)
|
|
|
NM_021072.4(HCN1):c.263G>T (p.Arg88Leu)
|
rs1173138693
|
|
NM_021072.4(HCN1):c.2641G>A (p.Ala881Thr)
|
|
|
NM_021072.4(HCN1):c.2660C>T (p.Ala887Val)
|
|
|
NM_021072.4(HCN1):c.274G>A (p.Gly92Ser)
|
|
|
NM_021072.4(HCN1):c.274_294dup (p.Gly92_Phe98dup)
|
rs747066400
|
|
NM_021072.4(HCN1):c.278_298dup (p.Phe93_Thr99dup)
|
rs1255874115
|
|
NM_021072.4(HCN1):c.290A>G (p.Gln97Arg)
|
rs1580055035
|
|
NM_021072.4(HCN1):c.290del (p.Gln97fs)
|
rs2112108952
|
|
NM_021072.4(HCN1):c.295_296delinsGG (p.Thr99Gly)
|
rs1739996970
|
|
NM_021072.4(HCN1):c.301A>G (p.Met101Val)
|
rs1739996550
|
|
NM_021072.4(HCN1):c.346A>G (p.Ser116Gly)
|
|
|
NM_021072.4(HCN1):c.370C>A (p.Gln124Lys)
|
|
|
NM_021072.4(HCN1):c.373G>A (p.Glu125Lys)
|
|
|
NM_021072.4(HCN1):c.37A>T (p.Ser13Cys)
|
|
|
NM_021072.4(HCN1):c.386C>A (p.Thr129Asn)
|
|
|
NM_021072.4(HCN1):c.388G>T (p.Ala130Ser)
|
|
|
NM_021072.4(HCN1):c.422T>G (p.Phe141Cys)
|
rs2112108772
|
|
NM_021072.4(HCN1):c.423C>G (p.Phe141Leu)
|
rs2112108769
|
|
NM_021072.4(HCN1):c.451A>G (p.Ile151Val)
|
rs890733454
|
|
NM_021072.4(HCN1):c.469C>A (p.Leu157Ile)
|
rs1561230606
|
|
NM_021072.4(HCN1):c.46G>A (p.Asp16Asn)
|
rs1283834151
|
|
NM_021072.4(HCN1):c.477C>G (p.Ile159Met)
|
rs1745533139
|
|
NM_021072.4(HCN1):c.484G>C (p.Val162Leu)
|
|
|
NM_021072.4(HCN1):c.508C>A (p.Gln170Lys)
|
|
|
NM_021072.4(HCN1):c.530T>C (p.Ile177Thr)
|
|
|
NM_021072.4(HCN1):c.558C>G (p.Phe186Leu)
|
rs1060500097
|
|
NM_021072.4(HCN1):c.577A>C (p.Asn193His)
|
|
|
NM_021072.4(HCN1):c.58_283del (p.Val20fs)
|
|
|
NM_021072.4(HCN1):c.616A>G (p.Ile206Val)
|
rs1444972054
|
|
NM_021072.4(HCN1):c.670G>T (p.Val224Phe)
|
|
|
NM_021072.4(HCN1):c.67G>T (p.Ala23Ser)
|
|
|
NM_021072.4(HCN1):c.694G>A (p.Val232Met)
|
rs1745529492
|
|
NM_021072.4(HCN1):c.705C>G (p.Ile235Met)
|
|
|
NM_021072.4(HCN1):c.71A>C (p.Lys24Thr)
|
|
|
NM_021072.4(HCN1):c.720A>T (p.Glu240Asp)
|
rs1554037379
|
|
NM_021072.4(HCN1):c.721A>T (p.Lys241Ter)
|
|
|
NM_021072.4(HCN1):c.727A>G (p.Met243Val)
|
rs1745528879
|
|
NM_021072.4(HCN1):c.728T>C (p.Met243Thr)
|
|
|
NM_021072.4(HCN1):c.72G>C (p.Lys24Asn)
|
|
|
NM_021072.4(HCN1):c.734C>T (p.Ser245Phe)
|
rs1561230479
|
|
NM_021072.4(HCN1):c.75_104del (p.Ser26_Ala35del)
|
|
|
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys)
|
rs1745528455
|
|
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys)
|
rs763339068
|
|
NM_021072.4(HCN1):c.793C>A (p.Leu265Ile)
|
rs1745528201
|
|
NM_021072.4(HCN1):c.79G>A (p.Ala27Thr)
|
rs1740005870
|
|
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter)
|
rs541911994
|
|
NM_021072.4(HCN1):c.809G>A (p.Arg270Gln)
|
rs2112031730
|
|
NM_021072.4(HCN1):c.823_826del (p.Ile275fs)
|
|
|
NM_021072.4(HCN1):c.831C>G (p.Tyr277Ter)
|
rs1745526984
|
|
NM_021072.4(HCN1):c.832A>G (p.Ile278Val)
|
|
|
NM_021072.4(HCN1):c.844G>A (p.Glu282Lys)
|
|
|
NM_021072.4(HCN1):c.849+18_849+23del
|
|
|
NM_021072.4(HCN1):c.859A>C (p.Met287Leu)
|
|
|
NM_021072.4(HCN1):c.870T>G (p.Asp290Glu)
|
|
|
NM_021072.4(HCN1):c.883G>A (p.Val295Met)
|
|
|
NM_021072.4(HCN1):c.894T>G (p.Ile298Met)
|
|
|
NM_021072.4(HCN1):c.899A>T (p.Asn300Ile)
|
|
|
NM_021072.4(HCN1):c.8G>T (p.Gly3Val)
|
|
|
NM_021072.4(HCN1):c.91G>T (p.Gly31Trp)
|
rs2112109649
|
|
NM_021072.4(HCN1):c.935A>T (p.Asp312Val)
|
rs1741169756
|
|
NM_021072.4(HCN1):c.937G>A (p.Gly313Ser)
|
rs2111627146
|
|
NM_021072.4(HCN1):c.959C>T (p.Pro320Leu)
|
rs2111627083
|
|
NM_021072.4(HCN1):c.990G>C (p.Trp330Cys)
|
rs794727517
|
|
NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro)
|
rs2064035728
|
|
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr)
|
rs1600775326
|
|
NM_130811.4(SNAP25):c.464del (p.Gly155fs)
|
rs2123158973
|
|
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)
|
rs2123205373
|
|
NM_139318.5(KCNH5):c.1034G>C (p.Gly345Ala)
|
|
|
NM_139318.5(KCNH5):c.106G>C (p.Val36Leu)
|
rs138796167
|
|
NM_139318.5(KCNH5):c.1086G>T (p.Trp362Cys)
|
|
|
NM_139318.5(KCNH5):c.1087C>G (p.Leu363Val)
|
rs2140130561
|
|
NM_139318.5(KCNH5):c.1096A>G (p.Ile366Val)
|
|
|
NM_139318.5(KCNH5):c.1111G>A (p.Gly371Arg)
|
|
|
NM_139318.5(KCNH5):c.1123G>A (p.Val375Ile)
|
|
|
NM_139318.5(KCNH5):c.1127T>A (p.Ile376Asn)
|
|
|
NM_139318.5(KCNH5):c.1144A>G (p.Thr382Ala)
|
|
|
NM_139318.5(KCNH5):c.115C>T (p.Pro39Ser)
|
|
|
NM_139318.5(KCNH5):c.1186A>T (p.Ile396Phe)
|
rs1889976030
|
|
NM_139318.5(KCNH5):c.1187T>C (p.Ile396Thr)
|
|
|
NM_139318.5(KCNH5):c.1199A>G (p.Tyr400Cys)
|
rs2140130437
|
|
NM_139318.5(KCNH5):c.1220G>C (p.Gly407Ala)
|
rs1889974797
|
|
NM_139318.5(KCNH5):c.1223T>G (p.Ile408Arg)
|
|
|
NM_139318.5(KCNH5):c.125A>G (p.Tyr42Cys)
|
rs1891337268
|
|
NM_139318.5(KCNH5):c.1280T>C (p.Met427Thr)
|
|
|
NM_139318.5(KCNH5):c.1313_1314del (p.Ile438fs)
|
|
|
NM_139318.5(KCNH5):c.1322C>A (p.Thr441Asn)
|
rs189501067
|
|
NM_139318.5(KCNH5):c.1340T>C (p.Met447Thr)
|
|
|
NM_139318.5(KCNH5):c.1363G>A (p.Val455Ile)
|
rs1224129490
|
|
NM_139318.5(KCNH5):c.1376_1378del (p.Leu459_Tyr460delinsHis)
|
rs2140045667
|
|
NM_139318.5(KCNH5):c.137G>C (p.Gly46Ala)
|
rs756167787
|
|
NM_139318.5(KCNH5):c.137G>T (p.Gly46Val)
|
|
|
NM_139318.5(KCNH5):c.1400T>C (p.Val467Ala)
|
rs1887769181
|
|
NM_139318.5(KCNH5):c.1403C>A (p.Thr468Lys)
|
|
|
NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del)
|
rs2140045637
|
|
NM_139318.5(KCNH5):c.1408A>G (p.Ile470Val)
|
|
|
NM_139318.5(KCNH5):c.1415A>G (p.Gln472Arg)
|
|
|
NM_139318.5(KCNH5):c.1439G>A (p.Arg480Gln)
|
|
|
NM_139318.5(KCNH5):c.1448del (p.Glu483fs)
|
rs2140045596
|
|
NM_139318.5(KCNH5):c.1466G>A (p.Arg489Gln)
|
rs1305159522
|
|
NM_139318.5(KCNH5):c.1473C>G (p.Phe491Leu)
|
|
|
NM_139318.5(KCNH5):c.148C>G (p.Leu50Val)
|
|
|
NM_139318.5(KCNH5):c.1577C>T (p.Ser526Phe)
|
rs2140000246
|
|
NM_139318.5(KCNH5):c.1622del (p.Asn541fs)
|
rs2140000165
|
|
NM_139318.5(KCNH5):c.1630G>A (p.Val544Ile)
|
rs1453474750
|
|
NM_139318.5(KCNH5):c.1635T>A (p.Phe545Leu)
|
|
|
NM_139318.5(KCNH5):c.1649C>T (p.Ala550Val)
|
|
|
NM_139318.5(KCNH5):c.1654C>T (p.Arg552Ter)
|
|
|
NM_139318.5(KCNH5):c.1712G>A (p.Cys571Tyr)
|
|
|
NM_139318.5(KCNH5):c.1712G>C (p.Cys571Ser)
|
|
|
NM_139318.5(KCNH5):c.1792A>G (p.Ile598Val)
|
rs1886679317
|
|
NM_139318.5(KCNH5):c.1807del (p.Val603fs)
|
rs2139999944
|
|
NM_139318.5(KCNH5):c.1822+3A>G
|
rs1886679041
|
|
NM_139318.5(KCNH5):c.1822+5T>C
|
|
|
NM_139318.5(KCNH5):c.1871C>G (p.Ala624Gly)
|
rs762614737
|
|
NM_139318.5(KCNH5):c.1876G>A (p.Ala626Thr)
|
|
|
NM_139318.5(KCNH5):c.1885A>G (p.Asn629Asp)
|
|
|
NM_139318.5(KCNH5):c.188G>T (p.Ser63Ile)
|
|
|
NM_139318.5(KCNH5):c.1906T>A (p.Cys636Ser)
|
|
|
NM_139318.5(KCNH5):c.1927C>G (p.Arg643Gly)
|
rs771984476
|
|
NM_139318.5(KCNH5):c.1927C>T (p.Arg643Trp)
|
|
|
NM_139318.5(KCNH5):c.1928G>A (p.Arg643Gln)
|
|
|
NM_139318.5(KCNH5):c.1939C>T (p.Leu647Phe)
|
|
|
NM_139318.5(KCNH5):c.1970C>T (p.Ala657Val)
|
rs143775193
|
|
NM_139318.5(KCNH5):c.1985G>A (p.Arg662Lys)
|
rs1382406226
|
|
NM_139318.5(KCNH5):c.1993A>T (p.Thr665Ser)
|
rs2139975358
|
|
NM_139318.5(KCNH5):c.2006A>G (p.Asn669Ser)
|
|
|
NM_139318.5(KCNH5):c.2018G>A (p.Arg673Gln)
|
|
|
NM_139318.5(KCNH5):c.2019G>A (p.Arg673=)
|
|
|
NM_139318.5(KCNH5):c.2026T>G (p.Phe676Val)
|
|
|
NM_139318.5(KCNH5):c.2029C>G (p.Arg677Gly)
|
|
|
NM_139318.5(KCNH5):c.2029C>T (p.Arg677Cys)
|
|
|
NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu)
|
|
|
NM_139318.5(KCNH5):c.2039G>T (p.Ser680Ile)
|
|
|
NM_139318.5(KCNH5):c.205T>C (p.Tyr69His)
|
|
|
NM_139318.5(KCNH5):c.2063A>T (p.Glu688Val)
|
|
|
NM_139318.5(KCNH5):c.2068C>G (p.Leu690Val)
|
|
|
NM_139318.5(KCNH5):c.2069T>G (p.Leu690Arg)
|
rs1884490758
|
|
NM_139318.5(KCNH5):c.2071C>T (p.Arg691Trp)
|
rs1313204598
|
|
NM_139318.5(KCNH5):c.2072G>T (p.Arg691Leu)
|
rs200737420
|
|
NM_139318.5(KCNH5):c.2095A>G (p.Ser699Gly)
|
rs1360641528
|
|
NM_139318.5(KCNH5):c.2114C>G (p.Pro705Arg)
|
rs1060502866
|
|
NM_139318.5(KCNH5):c.2138T>A (p.Phe713Tyr)
|
|
|
NM_139318.5(KCNH5):c.2147A>C (p.Gln716Pro)
|
|
|
NM_139318.5(KCNH5):c.2156T>C (p.Leu719Pro)
|
|
|
NM_139318.5(KCNH5):c.2158C>T (p.Arg720Trp)
|
|
|
NM_139318.5(KCNH5):c.2166G>T (p.Gln722His)
|
rs2139899426
|
|
NM_139318.5(KCNH5):c.2178G>C (p.Gln726His)
|
|
|
NM_139318.5(KCNH5):c.2185C>G (p.Pro729Ala)
|
|
|
NM_139318.5(KCNH5):c.2195A>G (p.Asn732Ser)
|
|
|
NM_139318.5(KCNH5):c.2204A>G (p.Gln735Arg)
|
|
|
NM_139318.5(KCNH5):c.2211G>C (p.Glu737Asp)
|
rs1050337000
|
|
NM_139318.5(KCNH5):c.2216G>A (p.Arg739His)
|
|
|
NM_139318.5(KCNH5):c.2227A>G (p.Asn743Asp)
|
|
|
NM_139318.5(KCNH5):c.2245G>A (p.Gly749Arg)
|
|
|
NM_139318.5(KCNH5):c.226A>G (p.Lys76Glu)
|
|
|
NM_139318.5(KCNH5):c.2284C>G (p.Gln762Glu)
|
|
|
NM_139318.5(KCNH5):c.229A>G (p.Thr77Ala)
|
rs1365308454
|
|
NM_139318.5(KCNH5):c.2300A>G (p.Tyr767Cys)
|
|
|
NM_139318.5(KCNH5):c.2303T>G (p.Val768Gly)
|
rs2139899216
|
|
NM_139318.5(KCNH5):c.2321T>C (p.Leu774Pro)
|
|
|
NM_139318.5(KCNH5):c.2341G>A (p.Ala781Thr)
|
rs1595587605
|
|
NM_139318.5(KCNH5):c.2342C>T (p.Ala781Val)
|
|
|
NM_139318.5(KCNH5):c.2344A>G (p.Met782Val)
|
rs1424974763
|
|
NM_139318.5(KCNH5):c.2347G>A (p.Glu783Lys)
|
rs373967609
|
|
NM_139318.5(KCNH5):c.2359A>G (p.Asn787Asp)
|
|
|
NM_139318.5(KCNH5):c.2407A>G (p.Met803Val)
|
rs1884477605
|
|
NM_139318.5(KCNH5):c.2410A>C (p.Lys804Gln)
|
|
|
NM_139318.5(KCNH5):c.2428G>C (p.Gly810Arg)
|
|
|
NM_139318.5(KCNH5):c.2437C>T (p.Arg813Ter)
|
|
|
NM_139318.5(KCNH5):c.2441T>C (p.Leu814Pro)
|
|
|
NM_139318.5(KCNH5):c.2446A>G (p.Asn816Asp)
|
|
|
NM_139318.5(KCNH5):c.2448T>A (p.Asn816Lys)
|
|
|
NM_139318.5(KCNH5):c.2449A>G (p.Asn817Asp)
|
|
|
NM_139318.5(KCNH5):c.2471A>G (p.Lys824Arg)
|
|
|
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
|
|
|
NM_139318.5(KCNH5):c.247C>T (p.Gln83Ter)
|
|
|
NM_139318.5(KCNH5):c.2481C>A (p.Asp827Glu)
|
|
|
NM_139318.5(KCNH5):c.2494A>C (p.Thr832Pro)
|
|
|
NM_139318.5(KCNH5):c.2509A>G (p.Met837Val)
|
|
|
NM_139318.5(KCNH5):c.2510T>C (p.Met837Thr)
|
|
|
NM_139318.5(KCNH5):c.2535G>C (p.Lys845Asn)
|
|
|
NM_139318.5(KCNH5):c.253T>C (p.Phe85Leu)
|
|
|
NM_139318.5(KCNH5):c.2549A>G (p.Glu850Gly)
|
|
|
NM_139318.5(KCNH5):c.2555G>A (p.Ser852Asn)
|
|
|
NM_139318.5(KCNH5):c.2561C>T (p.Thr854Ile)
|
rs2139898851
|
|
NM_139318.5(KCNH5):c.2584G>C (p.Asp862His)
|
|
|
NM_139318.5(KCNH5):c.2585A>G (p.Asp862Gly)
|
rs1595587388
|
|
NM_139318.5(KCNH5):c.2591G>A (p.Cys864Tyr)
|
rs1595587379
|
|
NM_139318.5(KCNH5):c.2594A>G (p.Asp865Gly)
|
|
|
NM_139318.5(KCNH5):c.259A>C (p.Asn87His)
|
|
|
NM_139318.5(KCNH5):c.2615A>G (p.Asp872Gly)
|
|
|
NM_139318.5(KCNH5):c.2618T>C (p.Leu873Pro)
|
|
|
NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser)
|
rs376837885
|
|
NM_139318.5(KCNH5):c.2641G>A (p.Ala881Thr)
|
|
|
NM_139318.5(KCNH5):c.2641G>T (p.Ala881Ser)
|
|
|
NM_139318.5(KCNH5):c.2642C>T (p.Ala881Val)
|
rs2139898764
|
|
NM_139318.5(KCNH5):c.2645G>A (p.Arg882Gln)
|
|
|
NM_139318.5(KCNH5):c.265G>C (p.Glu89Gln)
|
rs1162818997
|
|
NM_139318.5(KCNH5):c.2662A>G (p.Ser888Gly)
|
|
|
NM_139318.5(KCNH5):c.2677G>A (p.Asp893Asn)
|
|
|
NM_139318.5(KCNH5):c.2680G>A (p.Ala894Thr)
|
|
|
NM_139318.5(KCNH5):c.2689C>T (p.Pro897Ser)
|
rs1393650655
|
|
NM_139318.5(KCNH5):c.2690C>A (p.Pro897His)
|
|
|
NM_139318.5(KCNH5):c.2704C>G (p.Pro902Ala)
|
rs757688048
|
|
NM_139318.5(KCNH5):c.2704C>T (p.Pro902Ser)
|
rs757688048
|
|
NM_139318.5(KCNH5):c.2707G>T (p.Glu903Ter)
|
|
|
NM_139318.5(KCNH5):c.2722A>T (p.Thr908Ser)
|
|
|
NM_139318.5(KCNH5):c.2725A>C (p.Thr909Pro)
|
rs1884466924
|
|
NM_139318.5(KCNH5):c.2734G>A (p.Glu912Lys)
|
|
|
NM_139318.5(KCNH5):c.2749C>T (p.Leu917Phe)
|
|
|
NM_139318.5(KCNH5):c.2761A>T (p.Ile921Phe)
|
|
|
NM_139318.5(KCNH5):c.2786C>G (p.Thr929Ser)
|
|
|
NM_139318.5(KCNH5):c.2791C>G (p.Leu931Val)
|
|
|
NM_139318.5(KCNH5):c.2797A>G (p.Lys933Glu)
|
|
|
NM_139318.5(KCNH5):c.2803G>A (p.Val935Met)
|
|
|
NM_139318.5(KCNH5):c.2804T>C (p.Val935Ala)
|
|
|
NM_139318.5(KCNH5):c.2812A>G (p.Ile938Val)
|
rs375347137
|
|
NM_139318.5(KCNH5):c.2822T>C (p.Ile941Thr)
|
|
|
NM_139318.5(KCNH5):c.2825T>C (p.Leu942Pro)
|
|
|
NM_139318.5(KCNH5):c.2831A>T (p.Glu944Val)
|
rs2139898468
|
|
NM_139318.5(KCNH5):c.2833A>G (p.Lys945Glu)
|
rs1566633488
|
|
NM_139318.5(KCNH5):c.2846A>C (p.Gln949Pro)
|
rs2139898414
|
|
NM_139318.5(KCNH5):c.2855C>T (p.Ser952Phe)
|
|
|
NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)
|
|
|
NM_139318.5(KCNH5):c.2888C>T (p.Pro963Leu)
|
|
|
NM_139318.5(KCNH5):c.2890C>G (p.Gln964Glu)
|
rs753525158
|
|
NM_139318.5(KCNH5):c.2890del (p.Gln964fs)
|
|
|
NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)
|
|
|
NM_139318.5(KCNH5):c.2927C>T (p.Pro976Leu)
|
rs2139898259
|
|
NM_139318.5(KCNH5):c.2935C>T (p.Pro979Ser)
|
|
|
NM_139318.5(KCNH5):c.2936C>T (p.Pro979Leu)
|
|
|
NM_139318.5(KCNH5):c.2942C>T (p.Ser981Phe)
|
|
|
NM_139318.5(KCNH5):c.294C>G (p.Tyr98Ter)
|
|
|
NM_139318.5(KCNH5):c.2951A>T (p.Asp984Val)
|
rs1566633394
|
|
NM_139318.5(KCNH5):c.2954A>T (p.Glu985Val)
|
|
|
NM_139318.5(KCNH5):c.304+3A>G
|
|
|
NM_139318.5(KCNH5):c.304+4G>A
|
rs750807814
|
|
NM_139318.5(KCNH5):c.305-3C>T
|
rs1249146991
|
|
NM_139318.5(KCNH5):c.318G>T (p.Trp106Cys)
|
|
|
NM_139318.5(KCNH5):c.323A>G (p.Tyr108Cys)
|
rs1464940813
|
|
NM_139318.5(KCNH5):c.330A>G (p.Gln110=)
|
|
|
NM_139318.5(KCNH5):c.372C>A (p.Phe124Leu)
|
|
|
NM_139318.5(KCNH5):c.379A>G (p.Thr127Ala)
|
|
|
NM_139318.5(KCNH5):c.394A>T (p.Thr132Ser)
|
|
|
NM_139318.5(KCNH5):c.399G>T (p.Leu133Phe)
|
|
|
NM_139318.5(KCNH5):c.409C>A (p.Pro137Thr)
|
|
|
NM_139318.5(KCNH5):c.422A>C (p.Asp141Ala)
|
rs1891006879
|
|
NM_139318.5(KCNH5):c.433+5T>C
|
|
|
NM_139318.5(KCNH5):c.433+9_433+10insAACAAAAGGTAATTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGG
|
|
|
NM_139318.5(KCNH5):c.434-2A>C
|
rs1890726221
|
|
NM_139318.5(KCNH5):c.463G>A (p.Ala155Thr)
|
rs2139575336
|
|
NM_139318.5(KCNH5):c.472A>G (p.Asn158Asp)
|
|
|
NM_139318.5(KCNH5):c.476G>C (p.Ser159Thr)
|
rs759714263
|
|
NM_139318.5(KCNH5):c.479G>A (p.Arg160Gln)
|
rs148002630
|
|
NM_139318.5(KCNH5):c.488T>C (p.Leu163Ser)
|
rs2139575303
|
|
NM_139318.5(KCNH5):c.491A>G (p.Gln164Arg)
|
|
|
NM_139318.5(KCNH5):c.505A>G (p.Met169Val)
|
|
|
NM_139318.5(KCNH5):c.515C>A (p.Thr172Lys)
|
|
|
NM_139318.5(KCNH5):c.520G>A (p.Val174Met)
|
|
|
NM_139318.5(KCNH5):c.533A>G (p.His178Arg)
|
rs2139575209
|
|
NM_139318.5(KCNH5):c.53A>T (p.Asn18Ile)
|
|
|
NM_139318.5(KCNH5):c.545C>G (p.Ala182Gly)
|
rs2139575198
|
|
NM_139318.5(KCNH5):c.550-1G>C
|
|
|
NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe)
|
rs780855852
|
|
NM_139318.5(KCNH5):c.558G>C (p.Gln186His)
|
|
|
NM_139318.5(KCNH5):c.566C>G (p.Ser189Ter)
|
rs1381625125
|
|
NM_139318.5(KCNH5):c.568dup (p.Asp190fs)
|
|
|
NM_139318.5(KCNH5):c.581A>G (p.Gln194Arg)
|
rs2139568664
|
|
NM_139318.5(KCNH5):c.589C>T (p.Gln197Ter)
|
rs1555366656
|
|
NM_139318.5(KCNH5):c.610C>T (p.Pro204Ser)
|
rs1165675846
|
|
NM_139318.5(KCNH5):c.611C>T (p.Pro204Leu)
|
rs776842795
|
|
NM_139318.5(KCNH5):c.646A>G (p.Thr216Ala)
|
|
|
NM_139318.5(KCNH5):c.65G>A (p.Arg22His)
|
|
|
NM_139318.5(KCNH5):c.665dup (p.Leu222fs)
|
rs2139568568
|
|
NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe)
|
rs2139638415
|
|
NM_139318.5(KCNH5):c.719C>G (p.Thr240Arg)
|
|
|
NM_139318.5(KCNH5):c.727A>T (p.Asn243Tyr)
|
|
|
NM_139318.5(KCNH5):c.731A>G (p.Asn244Ser)
|
|
|
NM_139318.5(KCNH5):c.748C>A (p.Leu250Met)
|
|
|
NM_139318.5(KCNH5):c.765C>A (p.Asp255Glu)
|
|
|
NM_139318.5(KCNH5):c.811G>C (p.Val271Leu)
|
|
|
NM_139318.5(KCNH5):c.816_817delinsAT (p.Pro273Ser)
|
|
|
NM_139318.5(KCNH5):c.820G>A (p.Gly274Ser)
|
rs182494425
|
|
NM_139318.5(KCNH5):c.844A>G (p.Lys282Glu)
|
|
|
NM_139318.5(KCNH5):c.854G>A (p.Arg285Lys)
|
|
|
NM_139318.5(KCNH5):c.859A>T (p.Asn287Tyr)
|
|
|
NM_139318.5(KCNH5):c.908A>G (p.Tyr303Cys)
|
|
|
NM_139318.5(KCNH5):c.912C>G (p.Asp304Glu)
|
|
|
NM_139318.5(KCNH5):c.913A>G (p.Ile305Val)
|
rs2139568205
|
|
NM_139318.5(KCNH5):c.918C>T (p.Ile306=)
|
|
|
NM_139318.5(KCNH5):c.919A>G (p.Asn307Asp)
|
|
|
NM_139318.5(KCNH5):c.932dup (p.Asn311fs)
|
rs1566729319
|
|
NM_139318.5(KCNH5):c.950G>C (p.Ser317Thr)
|
|
|
NM_139318.5(KCNH5):c.953G>A (p.Ser318Asn)
|
|
|
NM_139318.5(KCNH5):c.987A>T (p.Leu329Phe)
|
rs2140130662
|
|
NM_153682.3(PIGP):c.384del (p.Glu129fs)
|
rs778481061
|
|
NM_172107.4(KCNQ2):c.1016T>C (p.Leu339Pro)
|
|
|
NM_172107.4(KCNQ2):c.1022A>G (p.Gln341Arg)
|
rs2081071796
|
|
NM_172107.4(KCNQ2):c.1023+2dup
|
|
|
NM_172107.4(KCNQ2):c.1023+6T>C
|
|
|
NM_172107.4(KCNQ2):c.1034G>T (p.Arg345Ile)
|
|
|
NM_172107.4(KCNQ2):c.1046C>A (p.Thr349Asn)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1049A>G (p.Asn350Ser)
|
rs772800738
|
|
NM_172107.4(KCNQ2):c.1063G>T (p.Asp355Tyr)
|
rs2080905348
|
|
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1070A>G (p.His357Arg)
|
rs926865634
|
|
NM_172107.4(KCNQ2):c.1072T>C (p.Ser358Pro)
|
rs2080904614
|
|
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala)
|
rs1064793334
|
|
NM_172107.4(KCNQ2):c.1078T>C (p.Trp360Arg)
|
rs2080904141
|
|
NM_172107.4(KCNQ2):c.1108C>A (p.Pro370Thr)
|
rs2080902130
|
|
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg)
|
rs765394232
|
|
NM_172107.4(KCNQ2):c.1113G>A (p.Met371Ile)
|
|
|
NM_172107.4(KCNQ2):c.1114T>C (p.Tyr372His)
|
rs2145679082
|
|
NM_172107.4(KCNQ2):c.1118+3A>G
|
rs1057516112
|
|
NM_172107.4(KCNQ2):c.1118+4C>T
|
rs2080901190
|
|
NM_172107.4(KCNQ2):c.1118+6G>A
|
|
|
NM_172107.4(KCNQ2):c.1119-8C>G
|
rs1057523550
|
|
NM_172107.4(KCNQ2):c.1131A>C (p.Gln377His)
|
|
|
NM_172107.4(KCNQ2):c.1133C>G (p.Thr378Ser)
|
rs1260593444
|
|
NM_172107.4(KCNQ2):c.113G>C (p.Gly38Ala)
|
|
|
NM_172107.4(KCNQ2):c.1148G>A (p.Arg383Lys)
|
|
|
NM_172107.4(KCNQ2):c.1160C>A (p.Pro387Gln)
|
|
|
NM_172107.4(KCNQ2):c.1181T>C (p.Leu394Pro)
|
rs2080695319
|
|
NM_172107.4(KCNQ2):c.1187A>G (p.Asn396Ser)
|
|
|
NM_172107.4(KCNQ2):c.1195A>G (p.Ser399Gly)
|
|
|
NM_172107.4(KCNQ2):c.119T>C (p.Leu40Pro)
|
rs2082237607
|
|
NM_172107.4(KCNQ2):c.1200A>G (p.Lys400=)
|
|
|
NM_172107.4(KCNQ2):c.1207C>G (p.Leu403Val)
|
rs1166282198
|
|
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp)
|
rs1060500601
|
|
NM_172107.4(KCNQ2):c.1218-21_1218-18del
|
|
|
NM_172107.4(KCNQ2):c.1222G>C (p.Asp408His)
|
rs2080560881
|
|
NM_172107.4(KCNQ2):c.1232C>A (p.Pro411Gln)
|
rs754682495
|
|
NM_172107.4(KCNQ2):c.1232C>G (p.Pro411Arg)
|
rs754682495
|
|
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg)
|
rs1270343938
|
|
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys)
|
rs1555859111
|
|
NM_172107.4(KCNQ2):c.1244C>A (p.Pro415Gln)
|
|
|
NM_172107.4(KCNQ2):c.1246A>G (p.Ser416Gly)
|
|
|
NM_172107.4(KCNQ2):c.1247+5G>A
|
|
|
NM_172107.4(KCNQ2):c.1247+6T>A
|
|
|
NM_172107.4(KCNQ2):c.1248T>C (p.Ser416=)
|
|
|
NM_172107.4(KCNQ2):c.1249A>C (p.Lys417Gln)
|
|
|
NM_172107.4(KCNQ2):c.1258C>T (p.Pro420Ser)
|
rs2080406431
|
|
NM_172107.4(KCNQ2):c.1259C>A (p.Pro420Gln)
|
rs139164500
|
|
NM_172107.4(KCNQ2):c.1259C>G (p.Pro420Arg)
|
rs139164500
|
|
NM_172107.4(KCNQ2):c.1265G>A (p.Arg422Lys)
|
|
|
NM_172107.4(KCNQ2):c.1286G>A (p.Cys429Tyr)
|
rs1601590761
|
|
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe)
|
rs1601590761
|
|
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val)
|
rs749554385
|
|
NM_172107.4(KCNQ2):c.129C>A (p.Ala43=)
|
rs1317748215
|
|
NM_172107.4(KCNQ2):c.1301+3A>G
|
|
|
NM_172107.4(KCNQ2):c.1301+6G>T
|
rs377304987
|
|
NM_172107.4(KCNQ2):c.1302-6G>C
|
|
|
NM_172107.4(KCNQ2):c.1321G>A (p.Asp441Asn)
|
|
|
NM_172107.4(KCNQ2):c.1322A>G (p.Asp441Gly)
|
|
|
NM_172107.4(KCNQ2):c.1325G>A (p.Arg442His)
|
|
|
NM_172107.4(KCNQ2):c.1333T>C (p.Ser445Pro)
|
rs2080246296
|
|
NM_172107.4(KCNQ2):c.1343G>A (p.Arg448Gln)
|
rs763968845
|
|
NM_172107.4(KCNQ2):c.1354G>A (p.Ala452Thr)
|
rs2080245324
|
|
NM_172107.4(KCNQ2):c.1364A>G (p.Lys455Arg)
|
|
|
NM_172107.4(KCNQ2):c.1367G>A (p.Gly456Glu)
|
|
|
NM_172107.4(KCNQ2):c.136G>A (p.Glu46Lys)
|
|
|
NM_172107.4(KCNQ2):c.136G>C (p.Glu46Gln)
|
|
|
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr)
|
rs1284566908
|
|
NM_172107.4(KCNQ2):c.1383G>T (p.Gln461His)
|
rs1349137821
|
|
NM_172107.4(KCNQ2):c.1393C>T (p.Arg465Trp)
|
|
|
NM_172107.4(KCNQ2):c.1408G>C (p.Asp470His)
|
rs751907059
|
|
NM_172107.4(KCNQ2):c.1409A>G (p.Asp470Gly)
|
|
|
NM_172107.4(KCNQ2):c.1410C>G (p.Asp470Glu)
|
|
|
NM_172107.4(KCNQ2):c.1414A>G (p.Ser472Gly)
|
|
|
NM_172107.4(KCNQ2):c.1420G>A (p.Glu474Lys)
|
|
|
NM_172107.4(KCNQ2):c.1423G>T (p.Asp475Tyr)
|
|
|
NM_172107.4(KCNQ2):c.1425C>A (p.Asp475Glu)
|
|
|
NM_172107.4(KCNQ2):c.1445A>G (p.Lys482Arg)
|
|
|
NM_172107.4(KCNQ2):c.1459G>C (p.Gly487Arg)
|
|
|
NM_172107.4(KCNQ2):c.1465C>G (p.Arg489Gly)
|
rs775387876
|
|
NM_172107.4(KCNQ2):c.1466G>A (p.Arg489His)
|
|
|
NM_172107.4(KCNQ2):c.1471C>T (p.Arg491Trp)
|
rs1251584590
|
|
NM_172107.4(KCNQ2):c.1474G>A (p.Ala492Thr)
|
|
|
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His)
|
rs769414365
|
|
NM_172107.4(KCNQ2):c.1490G>T (p.Arg497Leu)
|
|
|
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val)
|
rs1601572937
|
|
NM_172107.4(KCNQ2):c.1498G>A (p.Gly500Ser)
|
rs2080237946
|
|
NM_172107.4(KCNQ2):c.1499G>A (p.Gly500Asp)
|
|
|
NM_172107.4(KCNQ2):c.1502_1503delinsTG (p.Ala501Val)
|
rs2080237716
|
|
NM_172107.4(KCNQ2):c.1504G>T (p.Ala502Ser)
|
rs540103798
|
|
NM_172107.4(KCNQ2):c.151G>A (p.Gly51Ser)
|
|
|
NM_172107.4(KCNQ2):c.151G>C (p.Gly51Arg)
|
|
|
NM_172107.4(KCNQ2):c.1525+4G>A
|
|
|
NM_172107.4(KCNQ2):c.1526-3C>A
|
rs568408012
|
|
NM_172107.4(KCNQ2):c.1534C>T (p.Leu512Phe)
|
|
|
NM_172107.4(KCNQ2):c.1559A>G (p.Asp520Gly)
|
|
|
NM_172107.4(KCNQ2):c.1566C>G (p.Ser522Arg)
|
rs2145548165
|
|
NM_172107.4(KCNQ2):c.1579T>A (p.Phe527Ile)
|
|
|
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val)
|
rs1555854018
|
|
NM_172107.4(KCNQ2):c.1598C>A (p.Thr533Asn)
|
|
|
NM_172107.4(KCNQ2):c.1600C>T (p.Pro534Ser)
|
|
|
NM_172107.4(KCNQ2):c.1611A>T (p.Lys537Asn)
|
|
|
NM_172107.4(KCNQ2):c.1616G>A (p.Ser539Asn)
|
|
|
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)
|
rs1555853970
|
|
NM_172107.4(KCNQ2):c.1624G>A (p.Ala542Thr)
|
|
|
NM_172107.4(KCNQ2):c.162_167dup (p.Ser55_Lys56insAsnSer)
|
|
|
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)
|
rs118192232
|
|
NM_172107.4(KCNQ2):c.1631G>C (p.Cys544Ser)
|
rs1057518492
|
|
NM_172107.4(KCNQ2):c.1632-3C>A
|
rs765708117
|
|
NM_172107.4(KCNQ2):c.1632-6C>G
|
rs570940951
|
|
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)
|
rs2080191127
|
|
NM_172107.4(KCNQ2):c.1646T>C (p.Leu549Pro)
|
|
|
NM_172107.4(KCNQ2):c.1648G>C (p.Val550Leu)
|
rs1375676594
|
|
NM_172107.4(KCNQ2):c.1651T>C (p.Ser551Pro)
|
rs2080190604
|
|
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg)
|
rs1555853613
|
|
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn)
|
rs1601566660
|
|
NM_172107.4(KCNQ2):c.1679G>T (p.Arg560Leu)
|
|
|
NM_172107.4(KCNQ2):c.1682C>G (p.Pro561Arg)
|
rs796052652
|
|
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
|
|
|
NM_172107.4(KCNQ2):c.16C>G (p.Arg6Gly)
|
|
|
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)
|
rs1601566366
|
|
NM_172107.4(KCNQ2):c.173GCGCGGGCG[3] (p.Gly61_Gly63dup)
|
rs1362316126
|
|
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1754T>C (p.Leu585Pro)
|
rs2080185796
|
|
NM_172107.4(KCNQ2):c.1761C>T (p.Ser587=)
|
|
|
NM_172107.4(KCNQ2):c.1763+2C>G
|
|
|
NM_172107.4(KCNQ2):c.1763+3A>G
|
rs1601566237
|
|
NM_172107.4(KCNQ2):c.1763+4A>G
|
rs2145541064
|
|
NM_172107.4(KCNQ2):c.176C>T (p.Ala59Val)
|
|
|
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)
|
rs1555851550
|
|
NM_172107.4(KCNQ2):c.1789C>G (p.Pro597Ala)
|
|
|
NM_172107.4(KCNQ2):c.179G>A (p.Gly60Asp)
|
|
|
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile)
|
rs751334184
|
|
NM_172107.4(KCNQ2):c.1819G>T (p.Gly607Cys)
|
|
|
NM_172107.4(KCNQ2):c.1823C>A (p.Pro608Gln)
|
rs140217688
|
|
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1828G>C (p.Glu610Gln)
|
rs1350422852
|
|
NM_172107.4(KCNQ2):c.1830G>C (p.Glu610Asp)
|
rs2145497049
|
|
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys)
|
rs1180808546
|
|
NM_172107.4(KCNQ2):c.1843G>A (p.Glu615Lys)
|
rs1489723565
|
|
NM_172107.4(KCNQ2):c.1849C>T (p.Pro617Ser)
|
|
|
NM_172107.4(KCNQ2):c.1862G>T (p.Gly621Val)
|
rs2145496805
|
|
NM_172107.4(KCNQ2):c.1868T>C (p.Leu623Pro)
|
rs2145496730
|
|
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg)
|
rs771211103
|
|
NM_172107.4(KCNQ2):c.1870G>T (p.Gly624Trp)
|
rs771211103
|
|
NM_172107.4(KCNQ2):c.1887G>A (p.Gln629=)
|
rs2145496561
|
|
NM_172107.4(KCNQ2):c.1888-1G>A
|
rs2079980924
|
|
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro)
|
rs1568862485
|
|
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
|
rs1021032210
|
|
NM_172107.4(KCNQ2):c.1946G>A (p.Gly649Asp)
|
rs200124638
|
|
NM_172107.4(KCNQ2):c.1951C>T (p.Pro651Ser)
|
|
|
NM_172107.4(KCNQ2):c.1952C>G (p.Pro651Arg)
|
|
|
NM_172107.4(KCNQ2):c.1955C>G (p.Pro652Arg)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.1957A>C (p.Thr653Pro)
|
|
|
NM_172107.4(KCNQ2):c.1958C>G (p.Thr653Arg)
|
|
|
NM_172107.4(KCNQ2):c.195G>T (p.Gly65=)
|
rs2082235561
|
|
NM_172107.4(KCNQ2):c.1961A>T (p.Glu654Val)
|
|
|
NM_172107.4(KCNQ2):c.1963A>G (p.Thr655Ala)
|
|
|
NM_172107.4(KCNQ2):c.1968G>C (p.Glu656Asp)
|
rs1245262343
|
|
NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly)
|
rs758747437
|
|
NM_172107.4(KCNQ2):c.1997C>A (p.Pro666Gln)
|
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_172107.4(KCNQ2):c.199C>G (p.Pro67Ala)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser)
|
rs972841085
|
|
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)
|
rs774306858
|
|
NM_172107.4(KCNQ2):c.2020G>C (p.Glu674Gln)
|
|
|
NM_172107.4(KCNQ2):c.2023G>A (p.Asp675Asn)
|
|
|
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro)
|
rs1326189284
|
|
NM_172107.4(KCNQ2):c.2032G>A (p.Glu678Lys)
|
rs2079974270
|
|
NM_172107.4(KCNQ2):c.2036A>G (p.His679Arg)
|
|
|
NM_172107.4(KCNQ2):c.2037T>G (p.His679Gln)
|
|
|
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn)
|
rs1380546879
|
|
NM_172107.4(KCNQ2):c.2079C>G (p.Ser693Arg)
|
rs2079971597
|
|
NM_172107.4(KCNQ2):c.2082C>G (p.Ser694Arg)
|
|
|
NM_172107.4(KCNQ2):c.2090G>A (p.Gly697Asp)
|
rs1398433237
|
|
NM_172107.4(KCNQ2):c.2094GAA[1] (p.Lys699del)
|
rs777593960
|
|
NM_172107.4(KCNQ2):c.2095A>G (p.Lys699Glu)
|
rs1426709866
|
|
NM_172107.4(KCNQ2):c.2100C>A (p.Asn700Lys)
|
|
|
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del)
|
rs758334927
|
|
NM_172107.4(KCNQ2):c.2103C>G (p.Phe701Leu)
|
rs554863606
|
|
NM_172107.4(KCNQ2):c.2111C>T (p.Pro704Leu)
|
|
|
NM_172107.4(KCNQ2):c.2123C>A (p.Pro708His)
|
rs1360560623
|
|
NM_172107.4(KCNQ2):c.2126C>T (p.Pro709Leu)
|
rs2079968880
|
|
NM_172107.4(KCNQ2):c.2132A>C (p.Gln711Pro)
|
rs2145486666
|
|
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu)
|
rs750333438
|
|
NM_172107.4(KCNQ2):c.2162A>G (p.Gln721Arg)
|
|
|
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn)
|
rs980574000
|
|
NM_172107.4(KCNQ2):c.2174G>A (p.Arg725His)
|
rs775271635
|
|
NM_172107.4(KCNQ2):c.2174G>T (p.Arg725Leu)
|
|
|
NM_172107.4(KCNQ2):c.2185G>A (p.Gly729Ser)
|
|
|
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)
|
rs756563523
|
|
NM_172107.4(KCNQ2):c.2198T>C (p.Val733Ala)
|
|
|
NM_172107.4(KCNQ2):c.219C>A (p.Phe73Leu)
|
|
|
NM_172107.4(KCNQ2):c.2203G>A (p.Asp735Asn)
|
rs1333247951
|
|
NM_172107.4(KCNQ2):c.2203G>T (p.Asp735Tyr)
|
|
|
NM_172107.4(KCNQ2):c.2204A>G (p.Asp735Gly)
|
|
|
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
|
rs751657917
|
|
NM_172107.4(KCNQ2):c.2216T>A (p.Leu739Gln)
|
rs2079965385
|
|
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys)
|
rs2079965070
|
|
NM_172107.4(KCNQ2):c.2231C>T (p.Pro744Leu)
|
|
|
NM_172107.4(KCNQ2):c.2243A>C (p.His748Pro)
|
|
|
NM_172107.4(KCNQ2):c.2244C>G (p.His748Gln)
|
|
|
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys)
|
rs796052658
|
|
NM_172107.4(KCNQ2):c.2248C>T (p.Arg750Trp)
|
rs759060719
|
|
NM_172107.4(KCNQ2):c.225C>T (p.Arg75=)
|
|
|
NM_172107.4(KCNQ2):c.2281G>A (p.Ala761Thr)
|
rs587780366
|
|
NM_172107.4(KCNQ2):c.2285G>A (p.Ser762Asn)
|
|
|
NM_172107.4(KCNQ2):c.2285_2287dup (p.Ser762dup)
|
rs2079961029
|
|
NM_172107.4(KCNQ2):c.2314_2315inv (p.Pro772Gly)
|
|
|
NM_172107.4(KCNQ2):c.2321_2322delinsAT (p.Cys774Tyr)
|
rs2079958591
|
|
NM_172107.4(KCNQ2):c.2326C>T (p.Pro776Ser)
|
|
|
NM_172107.4(KCNQ2):c.2330C>T (p.Pro777Leu)
|
|
|
NM_172107.4(KCNQ2):c.2348A>G (p.Asp783Gly)
|
|
|
NM_172107.4(KCNQ2):c.2355C>A (p.Asp785Glu)
|
rs781121496
|
|
NM_172107.4(KCNQ2):c.2357C>T (p.Thr786Met)
|
rs754872408
|
|
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)
|
rs377227909
|
|
NM_172107.4(KCNQ2):c.239T>C (p.Phe80Ser)
|
rs2082234077
|
|
NM_172107.4(KCNQ2):c.2404T>C (p.Phe802Leu)
|
rs796052659
|
|
NM_172107.4(KCNQ2):c.2435A>C (p.Glu812Ala)
|
|
|
NM_172107.4(KCNQ2):c.2439C>A (p.Asn813Lys)
|
|
|
NM_172107.4(KCNQ2):c.2446G>T (p.Ala816Ser)
|
rs796052660
|
|
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn)
|
rs1600885336
|
|
NM_172107.4(KCNQ2):c.2470G>A (p.Val824Met)
|
rs750108040
|
|
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly)
|
rs1568858969
|
|
NM_172107.4(KCNQ2):c.2479T>C (p.Cys827Arg)
|
rs2145482847
|
|
NM_172107.4(KCNQ2):c.2480G>T (p.Cys827Phe)
|
rs2145482824
|
|
NM_172107.4(KCNQ2):c.2483C>T (p.Ala828Val)
|
|
|
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val)
|
rs1555850289
|
|
NM_172107.4(KCNQ2):c.2514dup (p.Ser839fs)
|
|
|
NM_172107.4(KCNQ2):c.2516C>A (p.Ser839Ter)
|
rs2079948012
|
|
NM_172107.4(KCNQ2):c.2524G>C (p.Asp842His)
|
|
|
NM_172107.4(KCNQ2):c.2531A>G (p.Asp844Gly)
|
|
|
NM_172107.4(KCNQ2):c.2536T>G (p.Cys846Gly)
|
rs2079947062
|
|
NM_172107.4(KCNQ2):c.2536_2565del (p.Cys846_Ser855del)
|
rs2079945316
|
|
NM_172107.4(KCNQ2):c.254T>A (p.Leu85Gln)
|
|
|
NM_172107.4(KCNQ2):c.254T>C (p.Leu85Pro)
|
rs2082233689
|
|
NM_172107.4(KCNQ2):c.2555dup (p.Pro853fs)
|
|
|
NM_172107.4(KCNQ2):c.2561G>A (p.Arg854His)
|
|
|
NM_172107.4(KCNQ2):c.2561G>T (p.Arg854Leu)
|
rs1238249590
|
|
NM_172107.4(KCNQ2):c.2566G>T (p.Ala856Ser)
|
rs1280612355
|
|
NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile)
|
|
|
NM_172107.4(KCNQ2):c.2572G>C (p.Gly858Arg)
|
|
|
NM_172107.4(KCNQ2):c.2575G>A (p.Glu859Lys)
|
|
|
NM_172107.4(KCNQ2):c.2578G>C (p.Gly860Arg)
|
|
|
NM_172107.4(KCNQ2):c.258_259delinsAA (p.Glu86_Arg87=)
|
rs2145921082
|
|
NM_172107.4(KCNQ2):c.2593G>A (p.Val865Met)
|
|
|
NM_172107.4(KCNQ2):c.2594T>G (p.Val865Gly)
|
|
|
NM_172107.4(KCNQ2):c.25G>A (p.Gly9Ser)
|
|
|
NM_172107.4(KCNQ2):c.2605G>A (p.Gly869Arg)
|
|
|
NM_172107.4(KCNQ2):c.2608C>T (p.Pro870Ser)
|
|
|
NM_172107.4(KCNQ2):c.2612G>A (p.Arg871Lys)
|
rs2079942562
|
|
NM_172107.4(KCNQ2):c.2616G>C (p.Lys872Asn)
|
|
|
NM_172107.4(KCNQ2):c.263C>A (p.Pro88Gln)
|
rs2145921050
|
|
NM_172107.4(KCNQ2):c.266G>C (p.Arg89Pro)
|
|
|
NM_172107.4(KCNQ2):c.266G>T (p.Arg89Leu)
|
|
|
NM_172107.4(KCNQ2):c.271T>G (p.Trp91Gly)
|
|
|
NM_172107.4(KCNQ2):c.280A>G (p.Ile94Val)
|
|
|
NM_172107.4(KCNQ2):c.286C>T (p.His96Tyr)
|
rs2082232988
|
|
NM_172107.4(KCNQ2):c.296+3G>A
|
|
|
NM_172107.4(KCNQ2):c.296+5G>A
|
rs2145920846
|
|
NM_172107.4(KCNQ2):c.296+5G>C
|
|
|
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile)
|
rs1555874588
|
|
NM_172107.4(KCNQ2):c.31T>C (p.Tyr11His)
|
rs1270851643
|
|
NM_172107.4(KCNQ2):c.336T>G (p.Phe112Leu)
|
rs2081440418
|
|
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe)
|
rs796052616
|
|
NM_172107.4(KCNQ2):c.341C>G (p.Thr114Ser)
|
rs1057516077
|
|
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del)
|
rs118192192
|
|
NM_172107.4(KCNQ2):c.347A>G (p.Lys116Arg)
|
|
|
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)
|
rs1381622639
|
|
NM_172107.4(KCNQ2):c.388-3C>T
|
rs1555874020
|
|
NM_172107.4(KCNQ2):c.392T>C (p.Ile131Thr)
|
rs2145779784
|
|
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.397A>G (p.Thr133Ala)
|
|
|
NM_172107.4(KCNQ2):c.400A>G (p.Ile134Val)
|
rs2081381281
|
|
NM_172107.4(KCNQ2):c.403G>T (p.Val135Leu)
|
rs775649577
|
|
NM_172107.4(KCNQ2):c.409T>G (p.Phe137Val)
|
|
|
NM_172107.4(KCNQ2):c.415G>C (p.Val139Leu)
|
|
|
NM_172107.4(KCNQ2):c.427G>A (p.Val143Met)
|
rs768237205
|
|
NM_172107.4(KCNQ2):c.427G>T (p.Val143Leu)
|
rs768237205
|
|
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)
|
rs2081379814
|
|
NM_172107.4(KCNQ2):c.443C>A (p.Ala148Glu)
|
rs2145779347
|
|
NM_172107.4(KCNQ2):c.448T>C (p.Cys150Arg)
|
|
|
NM_172107.4(KCNQ2):c.449G>A (p.Cys150Tyr)
|
|
|
NM_172107.4(KCNQ2):c.457C>A (p.Arg153=)
|
|
|
NM_172107.4(KCNQ2):c.457C>T (p.Arg153Trp)
|
|
|
NM_172107.4(KCNQ2):c.45C>A (p.Ser15Arg)
|
|
|
NM_172107.4(KCNQ2):c.463C>G (p.Arg155Gly)
|
|
|
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys)
|
rs886042698
|
|
NM_172107.4(KCNQ2):c.464G>A (p.Arg155His)
|
rs779076192
|
|
NM_172107.4(KCNQ2):c.466G>A (p.Gly156Ser)
|
rs2145779171
|
|
NM_172107.4(KCNQ2):c.466G>C (p.Gly156Arg)
|
|
|
NM_172107.4(KCNQ2):c.46G>T (p.Gly16Trp)
|
rs776118228
|
|
NM_172107.4(KCNQ2):c.473G>A (p.Arg158Lys)
|
rs2145779118
|
|
NM_172107.4(KCNQ2):c.479G>T (p.Arg160Leu)
|
|
|
NM_172107.4(KCNQ2):c.493C>T (p.Arg165Trp)
|
|
|
NM_172107.4(KCNQ2):c.494G>A (p.Arg165Gln)
|
|
|
NM_172107.4(KCNQ2):c.514+4A>T
|
rs1555873930
|
|
NM_172107.4(KCNQ2):c.514+5G>A
|
rs2081377457
|
|
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
|
|
|
NM_172107.4(KCNQ2):c.531C>G (p.Ile177Met)
|
|
|
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr)
|
rs1555873790
|
|
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser)
|
rs2081363570
|
|
NM_172107.4(KCNQ2):c.557G>T (p.Gly186Val)
|
|
|
NM_172107.4(KCNQ2):c.560C>T (p.Ser187Phe)
|
rs2081363375
|
|
NM_172107.4(KCNQ2):c.570C>A (p.Asn190Lys)
|
rs116087798
|
|
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile)
|
rs745564113
|
|
NM_172107.4(KCNQ2):c.597C>A (p.Ser199Arg)
|
|
|
NM_172107.4(KCNQ2):c.615T>G (p.Ile205Met)
|
rs971211988
|
|
NM_172107.4(KCNQ2):c.61A>G (p.Lys21Glu)
|
rs2145922229
|
|
NM_172107.4(KCNQ2):c.64G>A (p.Val22Met)
|
rs2082239153
|
|
NM_172107.4(KCNQ2):c.665G>A (p.Gly222Asp)
|
rs2145774681
|
|
NM_172107.4(KCNQ2):c.673G>T (p.Val225Phe)
|
|
|
NM_172107.4(KCNQ2):c.691-3C>G
|
rs768834593
|
|
NM_172107.4(KCNQ2):c.697G>C (p.Val233Leu)
|
|
|
NM_172107.4(KCNQ2):c.698T>A (p.Val233Asp)
|
|
|
NM_172107.4(KCNQ2):c.69C>T (p.Gly23=)
|
|
|
NM_172107.4(KCNQ2):c.714C>G (p.Ile238Met)
|
|
|
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
|
|
|
NM_172107.4(KCNQ2):c.725G>C (p.Cys242Ser)
|
|
|
NM_172107.4(KCNQ2):c.725G>T (p.Cys242Phe)
|
|
|
NM_172107.4(KCNQ2):c.737C>T (p.Ala246Val)
|
|
|
NM_172107.4(KCNQ2):c.756G>T (p.Leu252Phe)
|
rs2081190032
|
|
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly)
|
rs794727739
|
|
NM_172107.4(KCNQ2):c.765G>T (p.Lys255Asn)
|
|
|
NM_172107.4(KCNQ2):c.769G>C (p.Glu257Gln)
|
|
|
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)
|
rs777257591
|
|
NM_172107.4(KCNQ2):c.777C>A (p.Asp259Glu)
|
rs2081188808
|
|
NM_172107.4(KCNQ2):c.787A>T (p.Thr263Ser)
|
|
|
NM_172107.4(KCNQ2):c.791A>T (p.Tyr264Phe)
|
|
|
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)
|
rs2145735332
|
|
NM_172107.4(KCNQ2):c.799G>T (p.Ala267Ser)
|
|
|
NM_172107.4(KCNQ2):c.800C>T (p.Ala267Val)
|
rs2081187554
|
|
NM_172107.4(KCNQ2):c.814C>A (p.Leu272Met)
|
rs2145735086
|
|
NM_172107.4(KCNQ2):c.816+5G>A
|
rs2145735039
|
|
NM_172107.4(KCNQ2):c.817-3C>T
|
rs2081103894
|
|
NM_172107.4(KCNQ2):c.832A>G (p.Ile278Val)
|
|
|
NM_172107.4(KCNQ2):c.857A>C (p.Gln286Pro)
|
|
|
NM_172107.4(KCNQ2):c.85C>A (p.Pro29Thr)
|
|
|
NM_172107.4(KCNQ2):c.864G>C (p.Trp288Cys)
|
rs2081100544
|
|
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe)
|
rs2081099943
|
|
NM_172107.4(KCNQ2):c.887C>A (p.Thr296Asn)
|
rs2081099327
|
|
NM_172107.4(KCNQ2):c.891C>G (p.Phe297Leu)
|
|
|
NM_172107.4(KCNQ2):c.895C>G (p.Leu299Val)
|
rs2145718755
|
|
NM_172107.4(KCNQ2):c.920T>G (p.Leu307Arg)
|
|
|
NM_172107.4(KCNQ2):c.927+5G>A
|
|
|
NM_172107.4(KCNQ2):c.928-10T>A
|
|
|
NM_172107.4(KCNQ2):c.928-6T>C
|
|
|
NM_172107.4(KCNQ2):c.928-8A>T
|
|
|
NM_172107.4(KCNQ2):c.958G>T (p.Val320Phe)
|
rs2145712541
|
|
NM_172107.4(KCNQ2):c.981G>T (p.Lys327Asn)
|
rs2145712415
|
|
NM_172107.4(KCNQ2):c.982C>A (p.His328Asn)
|
rs1555869803
|
|
NM_172107.4(KCNQ2):c.983A>G (p.His328Arg)
|
|
|
NM_173728.3(ARHGEF15):c.1261_1262del
|
rs1230384228
|
|
NM_173728.4(ARHGEF15):c.100C>T (p.Pro34Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1037C>T (p.Pro346Leu)
|
rs1156679943
|
|
NM_173728.4(ARHGEF15):c.1045G>A (p.Asp349Asn)
|
|
|
NM_173728.4(ARHGEF15):c.1070G>T (p.Arg357Leu)
|
rs1904918630
|
|
NM_173728.4(ARHGEF15):c.1097G>A (p.Trp366Ter)
|
|
|
NM_173728.4(ARHGEF15):c.1099G>T (p.Gly367Trp)
|
rs746223199
|
|
NM_173728.4(ARHGEF15):c.1102del (p.Val368fs)
|
rs1060500048
|
|
NM_173728.4(ARHGEF15):c.1132A>T (p.Asn378Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.113A>G (p.His38Arg)
|
rs2151634782
|
|
NM_173728.4(ARHGEF15):c.1172C>T (p.Pro391Leu)
|
|
|
NM_173728.4(ARHGEF15):c.1199C>T (p.Pro400Leu)
|
rs2151639101
|
|
NM_173728.4(ARHGEF15):c.1210del (p.Ala404fs)
|
|
|
NM_173728.4(ARHGEF15):c.1216G>A (p.Gly406Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1221del (p.Leu408fs)
|
rs1904933367
|
|
NM_173728.4(ARHGEF15):c.1241A>G (p.Gln414Arg)
|
|
|
NM_173728.4(ARHGEF15):c.1249C>T (p.Arg417Cys)
|
rs376034940
|
|
NM_173728.4(ARHGEF15):c.1262G>A (p.Ser421Asn)
|
rs1904948121
|
|
NM_173728.4(ARHGEF15):c.1285G>C (p.Glu429Gln)
|
|
|
NM_173728.4(ARHGEF15):c.131A>G (p.Gln44Arg)
|
|
|
NM_173728.4(ARHGEF15):c.1345C>G (p.Leu449Val)
|
rs760006999
|
|
NM_173728.4(ARHGEF15):c.1351G>T (p.Asp451Tyr)
|
rs1597463542
|
|
NM_173728.4(ARHGEF15):c.1358T>C (p.Leu453Pro)
|
rs1331247989
|
|
NM_173728.4(ARHGEF15):c.1361C>T (p.Thr454Ile)
|
|
|
NM_173728.4(ARHGEF15):c.1364C>T (p.Pro455Leu)
|
|
|
NM_173728.4(ARHGEF15):c.1412T>C (p.Val471Ala)
|
|
|
NM_173728.4(ARHGEF15):c.1421+3C>G
|
rs1343482355
|
|
NM_173728.4(ARHGEF15):c.1422-10A>G
|
rs769854480
|
|
NM_173728.4(ARHGEF15):c.1422-3C>G
|
rs2151639981
|
|
NM_173728.4(ARHGEF15):c.1462C>A (p.His488Asn)
|
rs147556222
|
|
NM_173728.4(ARHGEF15):c.1462C>T (p.His488Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.1477T>G (p.Cys493Gly)
|
|
|
NM_173728.4(ARHGEF15):c.1489C>T (p.His497Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.1495C>T (p.His499Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.1504G>A (p.Gly502Arg)
|
|
|
NM_173728.4(ARHGEF15):c.1508C>T (p.Pro503Leu)
|
rs754839800
|
|
NM_173728.4(ARHGEF15):c.1552G>A (p.Glu518Lys)
|
|
|
NM_173728.4(ARHGEF15):c.1564A>G (p.Ser522Gly)
|
|
|
NM_173728.4(ARHGEF15):c.1565G>A (p.Ser522Asn)
|
|
|
NM_173728.4(ARHGEF15):c.1567C>G (p.Arg523Gly)
|
rs1400883593
|
|
NM_173728.4(ARHGEF15):c.1575-3C>T
|
|
|
NM_173728.4(ARHGEF15):c.1616A>T (p.Gln539Leu)
|
rs1905008421
|
|
NM_173728.4(ARHGEF15):c.1624C>T (p.Pro542Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1688T>C (p.Leu563Pro)
|
rs1373978799
|
|
NM_173728.4(ARHGEF15):c.1704+3A>T
|
|
|
NM_173728.4(ARHGEF15):c.1706A>G (p.Asn569Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1717C>G (p.Gln573Glu)
|
rs1567678599
|
|
NM_173728.4(ARHGEF15):c.1721C>A (p.Thr574Lys)
|
rs768707221
|
|
NM_173728.4(ARHGEF15):c.1728G>T (p.Glu576Asp)
|
|
|
NM_173728.4(ARHGEF15):c.1736G>T (p.Ser579Ile)
|
rs908938131
|
|
NM_173728.4(ARHGEF15):c.1737C>A (p.Ser579Arg)
|
rs766659619
|
|
NM_173728.4(ARHGEF15):c.1739G>A (p.Arg580His)
|
|
|
NM_173728.4(ARHGEF15):c.1756A>G (p.Lys586Glu)
|
rs1905164850
|
|
NM_173728.4(ARHGEF15):c.1759G>T (p.Ala587Ser)
|
rs1905165012
|
|
NM_173728.4(ARHGEF15):c.175A>T (p.Thr59Ser)
|
rs1407525714
|
|
NM_173728.4(ARHGEF15):c.1776C>G (p.Ser592Arg)
|
rs778649616
|
|
NM_173728.4(ARHGEF15):c.1778A>G (p.Lys593Arg)
|
rs1905166149
|
|
NM_173728.4(ARHGEF15):c.1786G>C (p.Glu596Gln)
|
rs746554509
|
|
NM_173728.4(ARHGEF15):c.1792T>A (p.Cys598Ser)
|
rs2151643282
|
|
NM_173728.4(ARHGEF15):c.1798G>A (p.Ala600Thr)
|
|
|
NM_173728.4(ARHGEF15):c.1804G>A (p.Val602Met)
|
|
|
NM_173728.4(ARHGEF15):c.1813A>C (p.Met605Leu)
|
|
|
NM_173728.4(ARHGEF15):c.1813A>G (p.Met605Val)
|
|
|
NM_173728.4(ARHGEF15):c.182T>A (p.Ile61Asn)
|
|
|
NM_173728.4(ARHGEF15):c.183C>G (p.Ile61Met)
|
rs542926076
|
|
NM_173728.4(ARHGEF15):c.1844C>G (p.Thr615Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1851G>C (p.Arg617Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1855C>T (p.Arg619Cys)
|
|
|
NM_173728.4(ARHGEF15):c.1864A>G (p.Lys622Glu)
|
rs1060500051
|
|
NM_173728.4(ARHGEF15):c.1882del (p.Leu628fs)
|
rs866103468
|
|
NM_173728.4(ARHGEF15):c.1901G>A (p.Arg634His)
|
|
|
NM_173728.4(ARHGEF15):c.1914G>T (p.Gln638His)
|
rs2151643653
|
|
NM_173728.4(ARHGEF15):c.1918G>A (p.Glu640Lys)
|
rs375563358
|
|
NM_173728.4(ARHGEF15):c.1927G>A (p.Glu643Lys)
|
|
|
NM_173728.4(ARHGEF15):c.1940G>C (p.Arg647Pro)
|
|
|
NM_173728.4(ARHGEF15):c.1944G>T (p.Arg648Ser)
|
rs201714597
|
|
NM_173728.4(ARHGEF15):c.1945G>A (p.Gly649Arg)
|
rs775161160
|
|
NM_173728.4(ARHGEF15):c.1945G>C (p.Gly649Arg)
|
rs775161160
|
|
NM_173728.4(ARHGEF15):c.1945G>T (p.Gly649Trp)
|
rs775161160
|
|
NM_173728.4(ARHGEF15):c.1949G>A (p.Gly650Asp)
|
rs757242848
|
|
NM_173728.4(ARHGEF15):c.1949dup (p.Val651fs)
|
rs752138065
|
|
NM_173728.4(ARHGEF15):c.1957T>G (p.Phe653Val)
|
|
|
NM_173728.4(ARHGEF15):c.1966C>T (p.Arg656Cys)
|
|
|
NM_173728.4(ARHGEF15):c.1970C>A (p.Pro657His)
|
|
|
NM_173728.4(ARHGEF15):c.197C>T (p.Pro66Leu)
|
rs1904673636
|
|
NM_173728.4(ARHGEF15):c.1981C>T (p.Pro661Ser)
|
|
|
NM_173728.4(ARHGEF15):c.1982C>T (p.Pro661Leu)
|
rs1336704004
|
|
NM_173728.4(ARHGEF15):c.2030A>G (p.Lys677Arg)
|
|
|
NM_173728.4(ARHGEF15):c.2034-3C>T
|
|
|
NM_173728.4(ARHGEF15):c.2034-5G>T
|
|
|
NM_173728.4(ARHGEF15):c.2058C>G (p.Asp686Glu)
|
rs2151644096
|
|
NM_173728.4(ARHGEF15):c.2080C>G (p.Gln694Glu)
|
rs1270007788
|
|
NM_173728.4(ARHGEF15):c.2093T>C (p.Val698Ala)
|
rs2151644165
|
|
NM_173728.4(ARHGEF15):c.2101C>T (p.Pro701Ser)
|
rs1555547506
|
|
NM_173728.4(ARHGEF15):c.2107G>A (p.Gly703Arg)
|
|
|
NM_173728.4(ARHGEF15):c.2108G>C (p.Gly703Ala)
|
|
|
NM_173728.4(ARHGEF15):c.2152C>G (p.Arg718Gly)
|
rs199891313
|
|
NM_173728.4(ARHGEF15):c.2153G>A (p.Arg718His)
|
|
|
NM_173728.4(ARHGEF15):c.2155C>T (p.Pro719Ser)
|
rs2151644288
|
|
NM_173728.4(ARHGEF15):c.2164C>T (p.Arg722Ter)
|
rs1905216199
|
|
NM_173728.4(ARHGEF15):c.2165G>A (p.Arg722Gln)
|
|
|
NM_173728.4(ARHGEF15):c.2186+6T>C
|
|
|
NM_173728.4(ARHGEF15):c.2187-19T>G
|
|
|
NM_173728.4(ARHGEF15):c.2204G>A (p.Trp735Ter)
|
rs1905226930
|
|
NM_173728.4(ARHGEF15):c.222_223delinsAA (p.Leu75Ile)
|
|
|
NM_173728.4(ARHGEF15):c.2231C>T (p.Pro744Leu)
|
|
|
NM_173728.4(ARHGEF15):c.2241C>A (p.Cys747Ter)
|
rs138590059
|
|
NM_173728.4(ARHGEF15):c.2258A>T (p.Tyr753Phe)
|
|
|
NM_173728.4(ARHGEF15):c.2270-3C>T
|
rs768630250
|
|
NM_173728.4(ARHGEF15):c.2273G>A (p.Cys758Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.2276C>G (p.Ser759Cys)
|
|
|
NM_173728.4(ARHGEF15):c.2277_2291del (p.Gln760_Ser764del)
|
|
|
NM_173728.4(ARHGEF15):c.2317G>A (p.Glu773Lys)
|
|
|
NM_173728.4(ARHGEF15):c.2338A>G (p.Arg780Gly)
|
|
|
NM_173728.4(ARHGEF15):c.2350A>G (p.Lys784Glu)
|
|
|
NM_173728.4(ARHGEF15):c.2369C>T (p.Pro790Leu)
|
rs2151645141
|
|
NM_173728.4(ARHGEF15):c.2374+4A>G
|
|
|
NM_173728.4(ARHGEF15):c.2404C>A (p.Pro802Thr)
|
|
|
NM_173728.4(ARHGEF15):c.2439C>G (p.His813Gln)
|
rs200425815
|
|
NM_173728.4(ARHGEF15):c.2440G>T (p.Glu814Ter)
|
|
|
NM_173728.4(ARHGEF15):c.2441A>G (p.Glu814Gly)
|
rs763375022
|
|
NM_173728.4(ARHGEF15):c.2459G>A (p.Arg820His)
|
rs1431506674
|
|
NM_173728.4(ARHGEF15):c.2466C>A (p.Asn822Lys)
|
rs2151646991
|
|
NM_173728.4(ARHGEF15):c.2472G>T (p.Arg824Ser)
|
|
|
NM_173728.4(ARHGEF15):c.2479G>T (p.Glu827Ter)
|
|
|
NM_173728.4(ARHGEF15):c.2495C>T (p.Ser832Phe)
|
rs1331599627
|
|
NM_173728.4(ARHGEF15):c.2501G>A (p.Gly834Asp)
|
rs929994723
|
|
NM_173728.4(ARHGEF15):c.2501G>T (p.Gly834Val)
|
|
|
NM_173728.4(ARHGEF15):c.2506C>T (p.Pro836Ser)
|
rs1905351176
|
|
NM_173728.4(ARHGEF15):c.2508dup (p.Asn837fs)
|
rs1344405299
|
|
NM_173728.4(ARHGEF15):c.2510A>G (p.Asn837Ser)
|
|
|
NM_173728.4(ARHGEF15):c.2515C>T (p.Pro839Ser)
|
|
|
NM_173728.4(ARHGEF15):c.2516C>A (p.Pro839His)
|
|
|
NM_173728.4(ARHGEF15):c.2519C>G (p.Pro840Arg)
|
rs552154823
|
|
NM_173728.4(ARHGEF15):c.2519C>T (p.Pro840Leu)
|
rs552154823
|
|
NM_173728.4(ARHGEF15):c.2519dup (p.Pro841fs)
|
rs769841479
|
|
NM_173728.4(ARHGEF15):c.287G>T (p.Ser96Ile)
|
rs754506677
|
|
NM_173728.4(ARHGEF15):c.292C>T (p.Pro98Ser)
|
|
|
NM_173728.4(ARHGEF15):c.331G>C (p.Glu111Gln)
|
rs1904691838
|
|
NM_173728.4(ARHGEF15):c.34C>A (p.Pro12Thr)
|
rs150480540
|
|
NM_173728.4(ARHGEF15):c.356C>A (p.Pro119His)
|
|
|
NM_173728.4(ARHGEF15):c.359C>A (p.Pro120Gln)
|
|
|
NM_173728.4(ARHGEF15):c.359C>G (p.Pro120Arg)
|
rs751244420
|
|
NM_173728.4(ARHGEF15):c.368C>T (p.Pro123Leu)
|
|
|
NM_173728.4(ARHGEF15):c.37A>C (p.Thr13Pro)
|
rs1366405067
|
|
NM_173728.4(ARHGEF15):c.386C>A (p.Thr129Lys)
|
|
|
NM_173728.4(ARHGEF15):c.38C>G (p.Thr13Arg)
|
rs373751727
|
|
NM_173728.4(ARHGEF15):c.38C>T (p.Thr13Met)
|
rs373751727
|
|
NM_173728.4(ARHGEF15):c.398C>A (p.Pro133His)
|
rs115065009
|
|
NM_173728.4(ARHGEF15):c.404C>G (p.Ala135Gly)
|
|
|
NM_173728.4(ARHGEF15):c.406G>A (p.Gly136Arg)
|
rs1597460709
|
|
NM_173728.4(ARHGEF15):c.412C>G (p.Leu138Val)
|
|
|
NM_173728.4(ARHGEF15):c.444_453del (p.Thr149fs)
|
rs2151635389
|
|
NM_173728.4(ARHGEF15):c.452_457del (p.Arg151_Arg152del)
|
rs2151635412
|
|
NM_173728.4(ARHGEF15):c.454_456dup (p.Arg152_Leu153insArg)
|
|
|
NM_173728.4(ARHGEF15):c.456G>C (p.Arg152Ser)
|
|
|
NM_173728.4(ARHGEF15):c.467G>A (p.Arg156Lys)
|
|
|
NM_173728.4(ARHGEF15):c.512C>G (p.Pro171Arg)
|
rs147736312
|
|
NM_173728.4(ARHGEF15):c.521G>C (p.Gly174Ala)
|
rs1443835154
|
|
NM_173728.4(ARHGEF15):c.534A>C (p.Arg178Ser)
|
|
|
NM_173728.4(ARHGEF15):c.563C>T (p.Pro188Leu)
|
rs142622501
|
|
NM_173728.4(ARHGEF15):c.570C>A (p.Thr190=)
|
rs62637603
|
|
NM_173728.4(ARHGEF15):c.592G>A (p.Gly198Ser)
|
rs1222652387
|
|
NM_173728.4(ARHGEF15):c.602-2A>C
|
|
|
NM_173728.4(ARHGEF15):c.61C>T (p.Arg21Cys)
|
rs766441392
|
|
NM_173728.4(ARHGEF15):c.61del (p.Arg21fs)
|
rs2151634671
|
|
NM_173728.4(ARHGEF15):c.643C>T (p.His215Tyr)
|
|
|
NM_173728.4(ARHGEF15):c.653G>A (p.Arg218Gln)
|
|
|
NM_173728.4(ARHGEF15):c.659G>A (p.Gly220Asp)
|
|
|
NM_173728.4(ARHGEF15):c.688G>A (p.Gly230Ser)
|
|
|
NM_173728.4(ARHGEF15):c.689G>A (p.Gly230Asp)
|
rs548334478
|
|
NM_173728.4(ARHGEF15):c.695AGG[1] (p.Glu233del)
|
rs1904754640
|
|
NM_173728.4(ARHGEF15):c.719G>A (p.Arg240Gln)
|
|
|
NM_173728.4(ARHGEF15):c.727C>T (p.Pro243Ser)
|
|
|
NM_173728.4(ARHGEF15):c.728del (p.Pro243fs)
|
rs1904759489
|
|
NM_173728.4(ARHGEF15):c.736A>G (p.Thr246Ala)
|
rs774905343
|
|
NM_173728.4(ARHGEF15):c.736A>T (p.Thr246Ser)
|
rs774905343
|
|
NM_173728.4(ARHGEF15):c.737C>A (p.Thr246Asn)
|
|
|
NM_173728.4(ARHGEF15):c.749G>A (p.Arg250His)
|
rs763801843
|
|
NM_173728.4(ARHGEF15):c.754C>G (p.His252Asp)
|
rs1342460023
|
|
NM_173728.4(ARHGEF15):c.768C>G (p.Ile256Met)
|
rs1217153535
|
|
NM_173728.4(ARHGEF15):c.769G>T (p.Gly257Cys)
|
|
|
NM_173728.4(ARHGEF15):c.770G>A (p.Gly257Asp)
|
|
|
NM_173728.4(ARHGEF15):c.797A>C (p.Tyr266Ser)
|
rs1399970108
|
|
NM_173728.4(ARHGEF15):c.79C>T (p.Arg27Cys)
|
|
|
NM_173728.4(ARHGEF15):c.800G>A (p.Arg267His)
|
|
|
NM_173728.4(ARHGEF15):c.803C>A (p.Ser268Tyr)
|
rs1904769204
|
|
NM_173728.4(ARHGEF15):c.806C>T (p.Thr269Ile)
|
rs1312470821
|
|
NM_173728.4(ARHGEF15):c.811G>C (p.Glu271Gln)
|
|
|
NM_173728.4(ARHGEF15):c.829_830delinsGC (p.Leu277Ala)
|
rs2151636552
|
|
NM_173728.4(ARHGEF15):c.852_853delinsAA (p.Arg285Ser)
|
rs1904775010
|
|
NM_173728.4(ARHGEF15):c.890dup (p.Gln298fs)
|
|
|
NM_173728.4(ARHGEF15):c.899A>T (p.Asp300Val)
|
rs2151636694
|
|
NM_173728.4(ARHGEF15):c.91G>T (p.Ala31Ser)
|
rs1567673612
|
|
NM_173728.4(ARHGEF15):c.925A>T (p.Ile309Phe)
|
|
|
NM_173728.4(ARHGEF15):c.92C>T (p.Ala31Val)
|
rs2151634754
|
|
NM_173728.4(ARHGEF15):c.934+3G>T
|
rs2151636754
|
|
NM_173728.4(ARHGEF15):c.935-2del
|
rs2151637061
|
|
NM_173728.4(ARHGEF15):c.95A>G (p.Gln32Arg)
|
rs1356825841
|
|
NM_173728.4(ARHGEF15):c.965C>T (p.Thr322Ile)
|
|
|
NM_173728.4(ARHGEF15):c.974C>T (p.Ala325Val)
|
rs748744226
|
|
NM_173728.4(ARHGEF15):c.980T>C (p.Val327Ala)
|
rs1060500049
|
|
NM_173728.4(ARHGEF15):c.985G>A (p.Gly329Arg)
|
rs1370581711
|
|
NM_173728.4(ARHGEF15):c.989+1G>A
|
rs1904811765
|
|
NM_173728.4(ARHGEF15):c.989+1G>T
|
|
|