ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy with suppression bursts

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4782
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HGVS dbSNP gnomAD frequency
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
NM_001330260.2(SCN8A):c.3926G>A (p.Arg1309Gln) rs201255617
NM_001330260.2(SCN8A):c.3932A>T (p.Glu1311Val)
NM_001330260.2(SCN8A):c.3934G>C (p.Gly1312Arg) rs2138892889
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
NM_001330260.2(SCN8A):c.3946G>T (p.Val1316Leu) rs2138903944
NM_001330260.2(SCN8A):c.394T>C (p.Ser132Pro)
NM_001330260.2(SCN8A):c.395+4T>C
NM_001330260.2(SCN8A):c.396-9C>A
NM_001330260.2(SCN8A):c.397G>A (p.Val133Ile)
NM_001330260.2(SCN8A):c.3982A>G (p.Met1328Val) rs1938092498
NM_001330260.2(SCN8A):c.3988G>A (p.Val1330Met)
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
NM_001330260.2(SCN8A):c.421A>G (p.Thr141Ala) rs1941420783
NM_001330260.2(SCN8A):c.4228-7T>C
NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser) rs1555228665
NM_001330260.2(SCN8A):c.424A>G (p.Ile142Val) rs2138711868
NM_001330260.2(SCN8A):c.4277G>A (p.Arg1426Gln) rs1057524240
NM_001330260.2(SCN8A):c.4281+6G>A
NM_001330260.2(SCN8A):c.4281+6G>T
NM_001330260.2(SCN8A):c.4282-3C>T
NM_001330260.2(SCN8A):c.4325T>C (p.Ile1442Thr) rs1938177744
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)
NM_001330260.2(SCN8A):c.4382G>T (p.Gly1461Val)
NM_001330260.2(SCN8A):c.4400T>G (p.Phe1467Cys) rs1938179062
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=)
NM_001330260.2(SCN8A):c.4420-1C>A
NM_001330260.2(SCN8A):c.4422C>T (p.Phe1474=)
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4426G>T (p.Gly1476Cys)
NM_001330260.2(SCN8A):c.4427G>A (p.Gly1476Asp)
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)
NM_001330260.2(SCN8A):c.4449A>C (p.Glu1483Asp)
NM_001330260.2(SCN8A):c.4471G>A (p.Ala1491Thr) rs1592164705
NM_001330260.2(SCN8A):c.4474A>G (p.Met1492Val) rs1938215673
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
NM_001330260.2(SCN8A):c.4477A>G (p.Lys1493Glu) rs1060501011
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)
NM_001330260.2(SCN8A):c.456T>C (p.Ser152=)
NM_001330260.2(SCN8A):c.4591C>A (p.Leu1531Ile)
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)
NM_001330260.2(SCN8A):c.4636C>G (p.Gln1546Glu) rs1020370285
NM_001330260.2(SCN8A):c.4638A>T (p.Gln1546His)
NM_001330260.2(SCN8A):c.4669A>G (p.Ile1557Val)
NM_001330260.2(SCN8A):c.4679T>C (p.Val1560Ala)
NM_001330260.2(SCN8A):c.4688T>C (p.Ile1563Thr) rs190254722
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)
NM_001330260.2(SCN8A):c.4770C>G (p.Phe1590Leu)
NM_001330260.2(SCN8A):c.4771G>A (p.Val1591Met) rs1565929209
NM_001330260.2(SCN8A):c.477G>A (p.Lys159=)
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

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