PMID: 28150151

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & cell
W Huang, M Liu, SF Yan, N Yan
2017-06

586 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-38651261-C-T SCN5A c.898G>A p.Val300Ile Missense 7/28 -
3-38662391-G-A SCN5A c.554C>T p.Ala185Val Missense 5/28 -
2-166929897-C-T SCN1A c.235G>A p.Asp79Asn Missense 4/29 -
2-166911177-G-C SCN1A c.573C>G p.Asn191Lys Missense 7/29 -
2-166903448-A-T SCN1A c.1209T>A p.Phe403Leu Missense 12/29 -
2-166903448-A-C SCN1A c.1209T>G p.Phe403Leu Missense 12/29 -
2-166915092-A-T SCN1A c.371T>A p.Ile124Asn Missense 5/29 -
3-38647624-C-T SCN5A c.1156G>A p.Gly386Arg Missense 10/28 -
3-38651315-G-A SCN5A c.844C>T p.Arg282Cys Missense 7/28 -
3-38607992-A-G SCN5A c.3748T>C p.Phe1250Leu Missense 21/28 -
3-38639416-C-T SCN5A c.2066G>A p.Arg689His Missense 14/28 -
17-62021194-A-T SCN4A c.3929T>A p.Ile1310Asn Missense 22/24 -
2-166901627-T-A SCN1A c.1588A>T p.Arg530Trp Missense 13/29 -
3-38598026-A-G SCN5A c.4343T>C p.Ile1448Thr Missense 25/28 -
2-166911154-G-C SCN1A c.596C>G p.Thr199Arg Missense 7/29 -
3-38597230-T-G SCN5A c.4459A>C p.Met1487Leu Missense 26/28 -
3-38646328-G-C SCN5A c.1410C>G p.Asn470Lys Missense 11/28 -
2-166911177-G-T SCN1A c.573C>A p.Asn191Lys Missense 7/29 -
3-38671916-A-G SCN5A c.278T>C p.Phe93Ser Missense 3/28 -
2-166900346-T-C SCN1A c.1876A>G p.Ser626Gly Missense 14/29 -
3-38597148-AG-TC SCN5A c.4540_4541delCTinsTC p.Leu1514Ser Missense 26/28 -
3-38639332-G-A SCN5A c.2150C>T p.Pro717Leu Missense 14/28 -
3-38607982-T-C SCN5A c.3758A>G p.Glu1253Gly Missense 21/28 -
3-38655260-G-A SCN5A c.677C>T p.Ala226Val Missense 6/28 -
3-38627522-A-T SCN5A c.2447T>A p.Phe816Tyr Missense 16/28 -
3-38622444-G-A SCN5A c.3206C>T p.Thr1069Met Missense 17/28 -
2-166859132-G-T SCN1A c.4101C>A p.Asn1367Lys Missense 24/29 -
3-38601649-G-A SCN5A c.4234C>T p.Leu1412Phe Missense 23/28 -
3-38627345-A-T SCN5A c.2624T>A p.Leu875Gln Missense 16/28 -
2-166908303-G-A SCN1A c.890C>T p.Thr297Ile Missense 9/29 -
3-38647593-A-G SCN5A c.1187T>C p.Val396Ala Missense 10/28 -
17-62021206-C-T SCN4A c.3917G>A p.Gly1306Glu Missense 22/24 -
17-62021206-C-G SCN4A c.3917G>C p.Gly1306Ala Missense 22/24 -
17-62021206-C-A SCN4A c.3917G>T p.Gly1306Val Missense 22/24 -
3-38640472-C-T SCN5A c.1960G>A p.Glu654Lys Missense 13/28 -
3-38645553-C-A SCN5A c.1540G>T p.Gly514Cys Missense 12/28 -
1-201060810-A-G CACNA1S c.652T>C p.Phe218Leu Missense 5/44 -
2-166854576-A-G SCN1A c.4415T>C p.Ile1472Thr Missense 26/29 -
2-166929945-A-G SCN1A c.187T>C p.Phe63Leu Missense 4/29 -
3-38647590-A-G SCN5A c.1190T>C p.Ile397Thr Missense 10/28 -
3-38597188-G-C SCN5A c.4501C>G p.Leu1501Val Missense 26/28 -
3-38647559-CAG-TTT SCN5A c.1219_1221delCTGinsTTT p.Leu407Phe Missense 10/28 -
2-166894513-C-G SCN1A c.2686G>C p.Val896Leu Missense 18/29 -
2-166905459-C-A SCN1A c.965G>T p.Arg322Ile Missense 10/29 -
3-38592917-G-A SCN5A c.4946C>T p.Ala1649Val Missense 28/28 -
2-166908477-G-A SCN1A c.716C>T p.Ala239Val Missense 9/29 -
2-166859257-C-A SCN1A c.3976G>T p.Val1326Leu Missense 24/29 -
3-38674746-C-T SCN5A c.53G>A p.Arg18Gln Missense 2/28 -
3-38593000-GAG-TGG SCN5A c.4861_4863delCTCinsTGG p.Leu1621Trp Missense 28/28 -
3-38629013-C-T SCN5A c.2314G>A p.Asp772Asn Missense 15/28 -
3-38592314-C-G SCN5A c.5549G>C p.Cys1850Ser Missense 28/28 -
3-38662412-G-C SCN5A c.533C>G p.Ala178Gly Missense 5/28 -
3-38622582-C-T SCN5A c.3068G>A p.Arg1023His Missense 17/28 -
3-38598023-T-C SCN5A c.4346A>G p.Tyr1449Cys Missense 25/28 -
3-38592977-C-A SCN5A c.4886G>T p.Arg1629Leu Missense 28/28 -
3-38592977-C-T SCN5A c.4886G>A p.Arg1629Gln Missense 28/28 -
3-38592695-G-T SCN5A c.5168C>A p.Thr1723Asn Missense 28/28 -
3-38601885-G-T SCN5A c.3998C>A p.Ser1333Tyr Missense 23/28 -
3-38620877-G-A SCN5A c.3338C>T p.Ala1113Val Missense 18/28 -
3-38597155-G-A SCN5A c.4534C>T p.Arg1512Trp Missense 26/28 -
3-38597226-G-C SCN5A c.4463C>G p.Thr1488Arg Missense 26/28 -
3-38595800-C-T SCN5A c.4783G>A p.Asp1595Asn Missense 27/28 -
3-38592645-C-G SCN5A c.5218G>C p.Gly1740Arg Missense 28/28 -
3-38592174-G-A SCN5A c.5689C>T p.Arg1897Trp Missense 28/28 -
3-38592645-C-T SCN5A c.5218G>A p.Gly1740Arg Missense 28/28 -
3-38595871-A-C SCN5A c.4712T>G p.Phe1571Cys Missense 27/28 -
3-38639290-G-A SCN5A c.2192C>T p.Thr731Ile Missense 14/28 -
3-38645238-G-A SCN5A c.1855C>T p.Leu619Phe Missense 12/28 -
3-38592576-C-T SCN5A c.5287G>A p.Val1763Met Missense 28/28 -
3-38604022-G-T SCN5A c.3847C>A p.Leu1283Met Missense 22/28 -
3-38595838-A-G SCN5A c.4745T>C p.Leu1582Pro Missense 27/28 -
3-38603913-C-A SCN5A c.3956G>T p.Gly1319Val Missense 22/28 -
17-62022054-G-T SCN4A c.3891C>A p.Asn1297Lys Missense 21/24 -
3-38595835-C-T SCN5A c.4748G>A p.Arg1583His Missense 27/28 -
17-62022054-G-C SCN4A c.3891C>G p.Asn1297Lys Missense 21/24 -
1-201008966-CT-CA CACNA1S c.5614_5615delAGinsCA p.Arg1872Gln Missense 44/44 -
3-38601804-A-C SCN5A c.4079T>G p.Phe1360Cys Missense 23/28 -
2-166904174-A-T SCN1A c.1133T>A p.Leu378Gln Missense 11/29 -
3-38648191-G-A SCN5A c.1109C>T p.Thr370Met Missense 9/28 -
17-62024442-C-T SCN4A c.3404G>A p.Arg1135His Missense 18/24 -
3-38595804-G-C SCN5A c.4779C>G p.Ile1593Met Missense 27/28 -
17-62024451-C-T SCN4A c.3395G>A p.Arg1132Gln Missense 18/24 -
3-38592360-G-A SCN5A c.5503C>T p.Leu1835Phe Missense 28/28 -
2-166903480-G-A SCN1A c.1177C>T p.Arg393Cys Missense 12/29 -
3-38622708-C-A SCN5A c.2942G>T p.Cys981Phe Missense 17/28 -
3-38601851-G-C SCN5A c.4032C>G p.Phe1344Leu Missense 23/28 -
3-38674565-C-A SCN5A c.234G>T p.Glu78Asp Missense 2/28 -
17-62022068-C-T SCN4A c.3877G>A p.Val1293Ile Missense 21/24 -
3-38603986-C-T SCN5A c.3883G>A p.Glu1295Lys Missense 22/28 -
3-38640517-C-G SCN5A c.1915G>C p.Gly639Arg Missense 13/28 -
3-38645439-C-T SCN5A c.1654G>A p.Gly552Arg Missense 12/28 -
3-38627291-C-T SCN5A c.2678G>A p.Arg893His Missense 16/28 -
3-38592480-A-G SCN5A c.5383T>C p.Tyr1795His Missense 28/28 -
3-38647542-G-T SCN5A c.1238C>A p.Ala413Glu Missense 10/28 -
3-38640514-G-C SCN5A c.1918C>G p.Pro640Ala Missense 13/28 -
2-166904145-A-G SCN1A c.1162T>C p.Tyr388His Missense 11/29 -
2-166903480-G-T SCN1A c.1177C>A p.Arg393Ser Missense 12/29 -
3-38622640-A-G SCN5A c.3010T>C p.Cys1004Arg Missense 17/28 -
3-38592908-A-G SCN5A c.4955T>C p.Met1652Thr Missense 28/28 -
3-38674645-G-A SCN5A c.154C>T p.Pro52Ser Missense 2/28 -
3-38627189-T-C SCN5A c.2780A>G p.Asn927Ser Missense 16/28 -
3-38597951-A-C SCN5A c.4418T>G p.Phe1473Cys Missense 25/28 -
3-38597951-A-G SCN5A c.4418T>C p.Phe1473Ser Missense 25/28 -
3-38662401-A-G SCN5A c.544T>C p.Cys182Arg Missense 5/28 -
3-38592386-C-T SCN5A c.5477G>A p.Arg1826His Missense 28/28 -
3-38593025-T-A SCN5A c.4838A>T p.Gln1613Leu Missense 28/28 -
3-38622756-C-T SCN5A c.2894G>A p.Arg965His Missense 17/28 -
3-38639440-T-G SCN5A c.2042A>C p.His681Pro Missense 14/28 -
3-38592162-C-G SCN5A c.5701G>C p.Glu1901Gln Missense 28/28 -
3-38647549-C-T SCN5A c.1231G>A p.Val411Met Missense 10/28 -
3-38651420-C-A SCN5A c.739G>T p.Val247Leu Missense 7/28 -
3-38651420-C-G SCN5A c.739G>C p.Val247Leu Missense 7/28 -
3-38592699-T-C SCN5A c.5164A>G p.Asn1722Asp Missense 28/28 -
3-38616798-C-T SCN5A c.3656G>A p.Ser1219Asn Missense 20/28 -
6-54067016-C-G MLIP c.1098C>G p.Asp366Glu Missense 10/13 -
3-38622772-G-T SCN5A c.2878C>A p.Gln960Lys Missense 17/28 -
3-38601895-C-T SCN5A c.3988G>A p.Ala1330Thr Missense 23/28 -
3-38601895-C-G SCN5A c.3988G>C p.Ala1330Pro Missense 23/28 -
3-38608046-G-A SCN5A c.3694C>T p.Arg1232Trp Missense 21/28 -
3-38592788-A-G SCN5A c.5075T>C p.Phe1692Ser Missense 28/28 -
2-166894513-C-T SCN1A c.2686G>A p.Val896Ile Missense 18/29 -
2-166894513-C-A SCN1A c.2686G>T p.Val896Phe Missense 18/29 -
3-38655271-TCG-AGC SCN5A c.664_666delCGAinsAGC p.Arg222Ser Missense 6/28 -
3-38648194-A-T SCN5A c.1106T>A p.Met369Lys Missense 9/28 -
3-38674657-C-T SCN5A c.142G>A p.Glu48Lys Missense 2/28 -
3-38592573-C-A SCN5A c.5290G>T p.Val1764Phe Missense 28/28 -
3-38640451-G-A SCN5A c.1981C>T p.Arg661Trp Missense 13/28 -
1-201035426-CAC-ATC CACNA1S c.2674_2676delGTGinsATC p.Val892Ile Missense 21/44 -
3-38671884-G-A SCN5A c.310C>T p.Arg104Trp Missense 3/28 -
2-166903479-C-T SCN1A c.1178G>A p.Arg393His Missense 12/29 -
3-38601853-A-G SCN5A c.4030T>C p.Phe1344Leu Missense 23/28 -
3-38671884-G-C SCN5A c.310C>G p.Arg104Gly Missense 3/28 -
3-38671821-C-G SCN5A c.373G>C p.Val125Leu Missense 3/28 -
2-166903450-A-G SCN1A c.1207T>C p.Phe403Leu Missense 12/29 -
2-166903450-A-C SCN1A c.1207T>G p.Phe403Val Missense 12/29 -
3-38629010-G-A SCN5A c.2317C>T p.Pro773Ser Missense 15/28 -
3-38601871-G-C SCN5A c.4012C>G p.Leu1338Val Missense 23/28 -
2-166904158-G-C SCN1A c.1149C>G p.Phe383Leu Missense 11/29 -
17-62022967-G-A SCN4A c.3473C>T p.Pro1158Leu Missense 19/24 -
2-166904158-G-T SCN1A c.1149C>A p.Phe383Leu Missense 11/29 -
3-38627453-A-G SCN5A c.2516T>C p.Leu839Pro Missense 16/28 -
3-38627226-A-G SCN5A c.2743T>C p.Cys915Arg Missense 16/28 -
3-38620875-C-T SCN5A c.3340G>A p.Asp1114Asn Missense 18/28 -
3-38591853-A-C SCN5A c.6010T>G p.Phe2004Val Missense 28/28 -
17-62029226-GA-AA SCN4A c.2410_2411delTCinsAA p.Ser804Asn Missense 14/24 -
3-38607917-C-T SCN5A c.3823G>A p.Asp1275Asn Missense 21/28 -
8-141569616-G-T AGO2 c.668C>A p.Ala223Glu Missense 6/19 -
3-38640517-C-T SCN5A c.1915G>A p.Gly639Arg Missense 13/28 -
17-62018868-T-C SCN4A c.4774A>G p.Met1592Val Missense 24/24 -
3-38648201-G-A SCN5A c.1099C>T p.Arg367Cys Missense 9/28 -
3-38647465-C-T SCN5A c.1315G>A p.Glu439Lys Missense 10/28 -
3-38601826-C-T SCN5A c.4057G>A p.Val1353Met Missense 23/28 -
3-38649681-G-T SCN5A c.959C>A p.Thr320Asn Missense 8/28 -
3-38607956-C-T SCN5A c.3784G>A p.Gly1262Ser Missense 21/28 -
3-38651332-A-T SCN5A c.827T>A p.Leu276Gln Missense 7/28 -
3-38592581-A-T SCN5A c.5282T>A p.Leu1761His Missense 28/28 -
3-38627341-CAG-ATC SCN5A c.2626_2628delCTGinsATC p.Leu876Ile Missense 16/28 -
3-38639278-G-A SCN5A c.2204C>T p.Ala735Val Missense 14/28 -
1-201009382-C-T CACNA1S c.5347G>A p.Ala1783Thr Missense 43/44 -
3-38648200-C-T SCN5A c.1100G>A p.Arg367His Missense 9/28 -
3-38608013-C-T SCN5A c.3727G>A p.Asp1243Asn Missense 21/28 -
3-38616858-T-G SCN5A c.3596A>C p.Tyr1199Ser Missense 20/28 -
3-38648248-C-T SCN5A c.1052G>A p.Gly351Asp Missense 9/28 -
3-38592722-T-C SCN5A c.5141A>G p.Asp1714Gly Missense 28/28 -
3-38608045-C-T SCN5A c.3695G>A p.Arg1232Gln Missense 21/28 -
17-62025363-C-T SCN4A c.3205G>A p.Asp1069Asn Missense 17/24 -
3-38627292-G-A SCN5A c.2677C>T p.Arg893Cys Missense 16/28 -
3-38601826-C-G SCN5A c.4057G>C p.Val1353Leu Missense 23/28 -
3-38601826-C-A SCN5A c.4057G>T p.Val1353Leu Missense 23/28 -
17-62034557-C-T SCN4A c.2341G>A p.Val781Ile Missense 13/24 -
3-38592347-T-C SCN5A c.5516A>G p.Asp1839Gly Missense 28/28 -
3-38645378-G-A SCN5A c.1715C>T p.Ala572Val Missense 12/28 -
3-38645378-G-T SCN5A c.1715C>A p.Ala572Asp Missense 12/28 -
2-166911220-C-T SCN1A c.530G>A p.Gly177Glu Missense 7/29 -
3-38622756-C-A SCN5A c.2894G>T p.Arg965Leu Missense 17/28 -
1-201060808-G-T CACNA1S c.654C>A p.Phe218Leu Missense 5/44 -
3-38645439-C-G SCN5A c.1654G>C p.Gly552Arg Missense 12/28 -
6-54013872-AG-CC MLIP c.631_632delAGinsCC p.Ser211Pro Missense 4/13 -
1-201060808-G-C CACNA1S c.654C>G p.Phe218Leu Missense 5/44 -
3-38598056-G-A SCN5A c.4313C>T p.Pro1438Leu Missense 25/28 -
17-62024460-C-T SCN4A c.3386G>A p.Arg1129Gln Missense 18/24 -
2-166915109-C-A SCN1A c.354G>T p.Arg118Ser Missense 5/29 -
2-166915109-C-G SCN1A c.354G>C p.Arg118Ser Missense 5/29 -
3-38596021-A-T SCN5A c.4562T>A p.Ile1521Lys Missense 27/28 -
3-38647498-C-T SCN5A c.1282G>A p.Glu428Lys Missense 10/28 -
3-38592679-G-C SCN5A c.5184C>G p.Cys1728Trp Missense 28/28 -
3-38601858-A-G SCN5A c.4025T>C p.Leu1342Pro Missense 23/28 -
3-38592648-G-A SCN5A c.5215C>T p.Arg1739Trp Missense 28/28 -
3-38608022-C-G SCN5A c.3718G>C p.Glu1240Gln Missense 21/28 -
2-166908438-A-T SCN1A c.755T>A p.Ile252Asn Missense 9/29 -
3-38663966-A-G SCN5A c.407T>C p.Leu136Pro Missense 4/28 -
2-166904243-C-T SCN1A c.1064G>A p.Gly355Asp Missense 11/29 -
17-62034787-G-A SCN4A c.2111C>T p.Thr704Met Missense 13/24 -
3-38603991-A-G SCN5A c.3878T>C p.Phe1293Ser Missense 22/28 -
3-38651279-C-T SCN5A c.880G>A p.Val294Met Missense 7/28 -
2-166908353-C-G SCN1A c.840G>C p.Trp280Cys Missense 9/29 -
2-166908353-C-A SCN1A c.840G>T p.Trp280Cys Missense 9/29 -
3-38647623-C-T SCN5A c.1157G>A p.Gly386Glu Missense 10/28 -
2-166859132-G-C SCN1A c.4101C>G p.Asn1367Lys Missense 24/29 -
3-38595797-A-T SCN5A c.4786T>A p.Phe1596Ile Missense 27/28 -
3-38603921-TCG-AGC SCN5A c.3946_3948delCGAinsAGC p.Arg1316Ser Missense 22/28 -
3-38639435-A-C SCN5A c.2047T>G p.Cys683Gly Missense 14/28 -
3-38592734-G-A SCN5A c.5129C>T p.Ser1710Leu Missense 28/28 -
2-166911238-A-C SCN1A c.512T>G p.Ile171Arg Missense 7/29 -
2-166911238-A-T SCN1A c.512T>A p.Ile171Lys Missense 7/29 -
17-62019300-G-A SCN4A c.4342C>T p.Arg1448Cys Missense 24/24 -
17-62045682-G-A SCN4A c.737C>T p.Ser246Leu Missense 6/24 -
3-38597197-T-C SCN5A c.4492A>G p.Met1498Val Missense 26/28 -
3-38674549-C-T SCN5A c.250G>A p.Asp84Asn Missense 2/28 -
1-201031146-G-C CACNA1S c.2979C>G p.Ser993Arg Missense 24/44 -
1-201031146-G-T CACNA1S c.2979C>A p.Ser993Arg Missense 24/44 -
3-38607927-C-A SCN5A c.3813G>T p.Trp1271Cys Missense 21/28 -
3-38607927-C-G SCN5A c.3813G>C p.Trp1271Cys Missense 21/28 -
2-166908400-C-A SCN1A c.793G>T p.Gly265Trp Missense 9/29 -
3-38592636-C-T SCN5A c.5227G>A p.Gly1743Arg Missense 28/28 -
8-141566352-T-G AGO2 c.1060A>C p.Lys354Gln Missense 9/19 -
X-148564642-C-G IDS c.1288G>C p.Glu430Gln Missense 9/9 -
8-141542617-T-C AGO2 c.2369A>G p.Tyr790Cys Missense 18/19 -
17-62049793-C-T SCN4A c.311G>A p.Arg104His Missense 2/24 -
2-166904254-A-C SCN1A c.1053T>G p.Cys351Trp Missense 11/29 -
3-38655272-C-T SCN5A c.665G>A p.Arg222Gln Missense 6/28 -
3-38593037-G-C SCN5A c.4826C>G p.Ser1609Trp Missense 28/28 -
3-38597222-C-A SCN5A c.4467G>T p.Glu1489Asp Missense 26/28 -
3-38603976-G-A SCN5A c.3893C>T p.Pro1298Leu Missense 22/28 -
3-38592552-T-A SCN5A c.5311A>T p.Ile1771Phe Missense 28/28 -
17-62018855-A-C SCN4A c.4787T>G p.Ile1596Ser Missense 24/24 -
3-38592636-C-G SCN5A c.5227G>C p.Gly1743Arg Missense 28/28 -
3-38592707-G-C SCN5A c.5156C>G p.Pro1719Arg Missense 28/28 -
3-38651351-G-T SCN5A c.808C>A p.Gln270Lys Missense 7/28 -
2-166854563-G-C SCN1A c.4428C>G p.Asn1476Lys Missense 26/29 -
2-166856251-TG-AC SCN1A c.4286_4287delCAinsAC p.Ala1429Asp Missense 25/29 -
1-201036079-G-C CACNA1S c.2593C>G p.Arg865Gly Missense 20/44 -
3-38646353-T-G SCN5A c.1385A>C p.Glu462Ala Missense 11/28 -
3-38592986-C-G SCN5A c.4877G>C p.Arg1626Pro Missense 28/28 -
3-38671833-G-A SCN5A c.361C>T p.Arg121Trp Missense 3/28 -
3-38591902-G-C SCN5A c.5961C>G p.Asn1987Lys Missense 28/28 -
3-38651334-G-C SCN5A c.825C>G p.Asn275Lys Missense 7/28 -
3-38651334-G-T SCN5A c.825C>A p.Asn275Lys Missense 7/28 -
3-38592156-C-A SCN5A c.5707G>T p.Val1903Leu Missense 28/28 -
3-38592156-C-G SCN5A c.5707G>C p.Val1903Leu Missense 28/28 -
3-38598048-C-G SCN5A c.4321G>C p.Glu1441Gln Missense 25/28 -
3-38592555-T-A SCN5A c.5308A>T p.Ile1770Phe Missense 28/28 -
3-38592845-A-G SCN5A c.5018T>C p.Ile1673Thr Missense 28/28 -
3-38646236-T-C SCN5A c.1502A>G p.Asp501Gly Missense 11/28 -
3-38648173-C-T SCN5A c.1127G>A p.Arg376His Missense 9/28 -
1-201058511-T-G CACNA1S c.775A>C p.Ser259Arg Missense 6/44 -
17-62021156-T-C SCN4A c.3967A>G p.Met1323Val Missense 22/24 -
2-166859257-C-G SCN1A c.3976G>C p.Val1326Leu Missense 24/29 -
3-38597967-C-A SCN5A c.4402G>T p.Val1468Phe Missense 25/28 -
3-38622831-CT-TT SCN5A c.2818_2819delAGinsTT p.Ser940Phe Missense 17/28 -
3-38592825-C-T SCN5A c.5038G>A p.Ala1680Thr Missense 28/28 -
3-38592938-C-T SCN5A c.4925G>A p.Gly1642Glu Missense 28/28 -
3-38591829-G-A SCN5A c.6034C>T p.Arg2012Cys Missense 28/28 -
2-166892933-CCT-TGT SCN1A c.3019_3021delAGGinsTGT p.Arg1007Cys Missense 19/29 -
17-62019317-A-T SCN4A c.4325T>A p.Val1442Glu Missense 24/24 -
3-38597238-T-C SCN5A c.4451A>G p.Asp1484Gly Missense 26/28 -
3-38601795-C-T SCN5A c.4088G>A p.Cys1363Tyr Missense 23/28 -
3-38628904-C-G SCN5A c.2423G>C p.Arg808Pro Missense 15/28 -
8-141542198-A-C AGO2 c.2525T>G p.Leu842Arg Missense 19/19 -
17-62019272-C-T SCN4A c.4370G>A p.Arg1457His Missense 24/24 -
3-38627219-A-C SCN5A c.2750T>G p.Leu917Arg Missense 16/28 -
3-38592582-G-A SCN5A c.5281C>T p.Leu1761Phe Missense 28/28 -
3-38592864-C-T SCN5A c.4999G>A p.Val1667Ile Missense 28/28 -
2-166872232-CAG-TTT SCN1A c.3400_3402delCTGinsTTT p.Leu1134Phe Missense 20/29 -
3-38598766-T-C SCN5A c.4255A>G p.Lys1419Glu Missense 24/28 -
2-166915171-C-G SCN1A c.292G>C p.Ala98Pro Missense 5/29 -
3-38592012-C-T SCN5A c.5851G>A p.Val1951Met Missense 28/28 -
3-38595903-C-G SCN5A c.4680G>C p.Leu1560Phe Missense 27/28 -
3-38592882-C-T SCN5A c.4981G>A p.Gly1661Arg Missense 28/28 -
3-38592489-C-T SCN5A c.5374G>A p.Asp1792Asn Missense 28/28 -
2-166903380-T-C SCN1A c.1277A>G p.Tyr426Cys Missense 12/29 -
3-38597174-C-G SCN5A c.4515G>C p.Lys1505Asn Missense 26/28 -
3-38597174-C-A SCN5A c.4515G>T p.Lys1505Asn Missense 26/28 -
3-38601846-A-G SCN5A c.4037T>C p.Leu1346Pro Missense 23/28 -
17-62026790-G-T SCN4A c.2952C>A p.Asn984Lys Missense 15/24 -
3-38601819-A-G SCN5A c.4064T>C p.Leu1355Pro Missense 23/28 -
3-38639233-T-C SCN5A c.2249A>G p.Gln750Arg Missense 14/28 -
1-201020235-CAG-TTT CACNA1S c.3988_3990delCTGinsTTT p.Leu1330Phe Missense 33/44 -
3-38640537-G-A SCN5A c.1895C>T p.Thr632Met Missense 13/28 -
1-201008967-T-A CACNA1S c.5614A>T p.Arg1872Trp Missense 44/44 -
17-62034755-C-T SCN4A c.2143G>A p.Ala715Thr Missense 13/24 -
3-38601867-A-G SCN5A c.4016T>C p.Leu1339Pro Missense 23/28 -
3-38655278-G-A SCN5A c.659C>T p.Thr220Ile Missense 6/28 -
3-38648234-C-T SCN5A c.1066G>A p.Asp356Asn Missense 9/28 -
3-38655264-G-A SCN5A c.673C>T p.Arg225Trp Missense 6/28 -
3-38622783-A-T SCN5A c.2867T>A p.Met956Lys Missense 17/28 -
3-38627416-G-T SCN5A c.2553C>A p.Phe851Leu Missense 16/28 -
3-38627336-C-T SCN5A c.2633G>A p.Arg878His Missense 16/28 -
17-62022962-T-C SCN4A c.3478A>G p.Ile1160Val Missense 19/24 -
1-201031132-T-C CACNA1S c.2993A>G p.Asp998Gly Missense 24/44 -
2-166915149-G-A SCN1A c.314C>T p.Thr105Ile Missense 5/29 -
6-54067016-C-A MLIP c.1098C>A p.Asp366Glu Missense 10/13 -
3-38595878-C-G SCN5A c.4705G>C p.Ala1569Pro Missense 27/28 -
17-62041947-C-T SCN4A c.1333G>A p.Val445Met Missense 9/24 -
3-38645358-C-T SCN5A c.1735G>A p.Gly579Arg Missense 12/28 -
3-38603934-C-G SCN5A c.3935G>C p.Arg1312Thr Missense 22/28 -
3-38640469-C-T SCN5A c.1963G>A p.Glu655Lys Missense 13/28 -
3-38655302-A-T SCN5A c.635T>A p.Leu212Gln Missense 6/28 -
8-141566325-T-G AGO2 c.1087A>C p.Thr363Pro Missense 9/19 -
3-38592441-A-T SCN5A c.5422T>A p.Phe1808Ile Missense 28/28 -
3-38592441-A-G SCN5A c.5422T>C p.Phe1808Leu Missense 28/28 -
3-38592439-A-C SCN5A c.5424T>G p.Phe1808Leu Missense 28/28 -
19-33953933-TA-AC PEPD c.638_639delTAinsAC p.Val213Asp Missense 9/15 -
3-38592551-A-T SCN5A c.5312T>A p.Ile1771Asn Missense 28/28 -
3-38645393-A-T SCN5A c.1700T>A p.Leu567Gln Missense 12/28 -
17-62022814-C-A SCN4A c.3626G>T p.Cys1209Phe Missense 19/24 -
3-38592737-G-C SCN5A c.5126C>G p.Thr1709Arg Missense 28/28 -
3-38598724-C-T SCN5A c.4297G>A p.Gly1433Arg Missense 24/28 -
3-38607951-G-T SCN5A c.3789C>A p.Phe1263Leu Missense 21/28 -
3-38597205-T-G SCN5A c.4484A>C p.Tyr1495Ser Missense 26/28 -
3-38639278-G-T SCN5A c.2204C>A p.Ala735Glu Missense 14/28 -
17-62019344-A-C SCN4A c.4298T>G p.Leu1433Arg Missense 24/24 -
3-38627528-C-T SCN5A c.2441G>A p.Arg814Gln Missense 16/28 -
3-38601806-C-A SCN5A c.4077G>T p.Lys1359Asn Missense 23/28 -
2-166848884-A-G SCN1A c.4868T>C p.Leu1623Pro Missense 29/29 -
3-38627283-A-T SCN5A c.2686T>A p.Cys896Ser Missense 16/28 -
3-38592771-C-T SCN5A c.5092G>A p.Ala1698Thr Missense 28/28 -
3-38601657-T-C SCN5A c.4226A>G p.Tyr1409Cys Missense 23/28 -
2-166911227-C-T SCN1A c.523G>A p.Ala175Thr Missense 7/29 -
3-38648293-G-A SCN5A c.1007C>T p.Pro336Leu Missense 9/28 -
3-38601666-C-T SCN5A c.4217G>A p.Gly1406Glu Missense 23/28 -
3-38592527-G-A SCN5A c.5336C>T p.Thr1779Met Missense 28/28 -
3-38629036-A-C SCN5A c.2291T>G p.Met764Arg Missense 15/28 -
3-38647569-A-T SCN5A c.1211T>A p.Leu404Gln Missense 10/28 -
19-33878263-GA-AA PEPD c.1468_1469delTCinsAA p.Ser490Asn Missense 15/15 -
3-38662334-G-A SCN5A c.611C>T p.Ala204Val Missense 5/28 -
3-38604006-G-C SCN5A c.3863C>G p.Ala1288Gly Missense 22/28 -
17-62022968-G-A SCN4A c.3472C>T p.Pro1158Ser Missense 19/24 -
3-38597233-A-G SCN5A c.4456T>C p.Phe1486Leu Missense 26/28 -
1-201020266-G-A CACNA1S c.3959C>T p.Ala1320Val Missense 33/44 -
3-38663937-C-T SCN5A c.436G>A p.Val146Met Missense 4/28 -
3-38639417-G-A SCN5A c.2065C>T p.Arg689Cys Missense 14/28 -
2-166904171-A-C SCN1A c.1136T>G p.Met379Arg Missense 11/29 -
3-38648248-C-A SCN5A c.1052G>T p.Gly351Val Missense 9/28 -
3-38655271-TCG-TGG SCN5A c.664_666delCGAinsTGG p.Arg222Trp Missense 6/28 -
17-62036638-C-T SCN4A c.2006G>A p.Arg669His Missense 12/24 -
3-38598725-C-A SCN5A c.4296G>T p.Arg1432Ser Missense 24/28 -
2-166854563-G-T SCN1A c.4428C>A p.Asn1476Lys Missense 26/29 -
6-54025213-T-G MLIP c.733T>G p.Leu245Val Missense 5/13 -
17-62049497-C-T SCN4A c.481G>A p.Glu161Lys Missense 3/24 -
8-141551451-C-G AGO2 c.1846G>C p.Gly616Arg Missense 15/19 -
2-166903381-A-T SCN1A c.1276T>A p.Tyr426Asn Missense 12/29 -
1-201009381-G-A CACNA1S c.5348C>T p.Ala1783Val Missense 43/44 -
3-38622493-C-T SCN5A c.3157G>A p.Glu1053Lys Missense 17/28 -
3-38597954-T-C SCN5A c.4415A>G p.Asn1472Ser Missense 25/28 -
3-38597231-G-T SCN5A c.4458C>A p.Phe1486Leu Missense 26/28 -
3-38651327-G-C SCN5A c.832C>G p.His278Asp Missense 7/28 -
3-38592737-G-A SCN5A c.5126C>T p.Thr1709Met Missense 28/28 -
3-38601738-C-A SCN5A c.4145G>T p.Ser1382Ile Missense 23/28 -
17-62029017-C-G SCN4A c.2620G>C p.Ala874Pro Missense 14/24 -
3-38645235-G-A SCN5A c.1858C>T p.Arg620Cys Missense 12/28 -
19-33882328-G-A PEPD c.1025C>T p.Ala342Val Missense 13/15 -
2-166904160-A-G SCN1A c.1147T>C p.Phe383Leu Missense 11/29 -
17-62022985-G-T SCN4A c.3455C>A p.Ala1152Asp Missense 19/24 -
3-38627282-C-G SCN5A c.2687G>C p.Cys896Ser Missense 16/28 -
2-166909379-G-C SCN1A c.677C>G p.Thr226Arg Missense 8/29 -
2-166909379-G-A SCN1A c.677C>T p.Thr226Met Missense 8/29 -
3-38645505-A-C SCN5A c.1588T>G p.Phe530Val Missense 12/28 -
3-38601888-G-A SCN5A c.3995C>T p.Pro1332Leu Missense 23/28 -
3-38647594-C-G SCN5A c.1186G>C p.Val396Leu Missense 10/28 -
3-38627295-A-T SCN5A c.2674T>A p.Phe892Ile Missense 16/28 -
3-38655262-CCG-TGT SCN5A c.673_675delCGGinsTGT p.Arg225Cys Missense 6/28 -
3-38592387-G-A SCN5A c.5476C>T p.Arg1826Cys Missense 28/28 -
3-38655271-TC-AT SCN5A c.665_666delGAinsAT p.Arg222His Missense 6/28 -
2-166908327-T-A SCN1A c.866A>T p.Glu289Val Missense 9/29 -
3-38592060-C-T SCN5A c.5803G>A p.Gly1935Ser Missense 28/28 -
2-166850660-AA-GG SCN1A c.4814_4815delTTinsGG p.Ile1605Arg Missense 28/29 -
3-38592513-C-T SCN5A c.5350G>A p.Glu1784Lys Missense 28/28 -
3-38616876-C-T SCN5A c.3578G>A p.Arg1193Gln Missense 20/28 -
3-38674671-C-T SCN5A c.128G>A p.Arg43Gln Missense 2/28 -
3-38648180-A-C SCN5A c.1120T>G p.Trp374Gly Missense 9/28 -
3-38662385-G-A SCN5A c.560C>T p.Thr187Ile Missense 5/28 -
3-38674710-T-C SCN5A c.89A>G p.Glu30Gly Missense 2/28 -
3-38592125-C-T SCN5A c.5738G>A p.Arg1913His Missense 28/28 -
3-38663959-C-T SCN5A c.414G>A p.Met138Ile Missense 4/28 -
2-166904157-A-T SCN1A c.1150T>A p.Trp384Arg Missense 11/29 -
2-166904157-A-G SCN1A c.1150T>C p.Trp384Arg Missense 11/29 -
2-166859255-CA-AC SCN1A c.3977_3978delTGinsAC p.Val1326Asp Missense 24/29 -
3-38592885-T-C SCN5A c.4978A>G p.Ile1660Val Missense 28/28 -
3-38597211-T-C SCN5A c.4478A>G p.Lys1493Arg Missense 26/28 -
3-38592012-C-A SCN5A c.5851G>T p.Val1951Leu Missense 28/28 -
3-38620979-G-T SCN5A c.3236C>A p.Ser1079Tyr Missense 18/28 -
3-38628962-C-T SCN5A c.2365G>A p.Val789Ile Missense 15/28 -
3-38592534-C-T SCN5A c.5329G>A p.Val1777Met Missense 28/28 -
3-38671851-T-C SCN5A c.343A>G p.Ser115Gly Missense 3/28 -
2-166912960-A-G SCN1A c.434T>C p.Met145Thr Missense 6/29 -
2-166904237-T-A SCN1A c.1070A>T p.Asn357Ile Missense 11/29 -
3-38608067-C-T SCN5A c.3673G>A p.Glu1225Lys Missense 21/28 -
3-38601907-C-G SCN5A c.3976G>C p.Ala1326Pro Missense 23/28 -
2-166904274-A-G SCN1A c.1033T>C p.Cys345Arg Missense 11/29 -
17-62041960-A-C SCN4A c.1320T>G p.Asn440Lys Missense 9/24 -
3-38622828-GA-AA SCN5A c.2821_2822delTCinsAA p.Ser941Asn Missense 17/28 -
3-38640492-G-T SCN5A c.1940C>A p.Ala647Asp Missense 13/28 -
2-166911217-A-G SCN1A c.533T>C p.Phe178Ser Missense 7/29 -
3-38595773-C-T SCN5A c.4810G>A p.Val1604Met Missense 27/28 -
2-166904177-C-T SCN1A c.1130G>A p.Arg377Gln Missense 11/29 -
6-54095623-CTT-TGG MLIP c.1225_1227delCTTinsTGG p.Leu409Trp Missense 11/13 -
3-38592681-A-G SCN5A c.5182T>C p.Cys1728Arg Missense 28/28 -
2-166903420-A-T SCN1A c.1237T>A p.Tyr413Asn Missense 12/29 -
3-38595903-C-A SCN5A c.4680G>T p.Leu1560Phe Missense 27/28 -
3-38655249-T-C SCN5A c.688A>G p.Ile230Val Missense 6/28 -
3-38651267-C-T SCN5A c.892G>A p.Gly298Ser Missense 7/28 -
3-38618244-C-G SCN5A c.3419G>C p.Ser1140Thr Missense 19/28 -
3-38608032-C-G SCN5A c.3708G>C p.Lys1236Asn Missense 21/28 -
3-38592750-A-T SCN5A c.5113T>A p.Phe1705Ile Missense 28/28 -
3-38592932-C-T SCN5A c.4931G>A p.Arg1644His Missense 28/28 -
3-38598027-T-G SCN5A c.4342A>C p.Ile1448Leu Missense 25/28 -
2-166911179-T-A SCN1A c.571A>T p.Asn191Tyr Missense 7/29 -
3-38596010-C-T SCN5A c.4573G>A p.Val1525Met Missense 27/28 -
3-38598723-C-T SCN5A c.4298G>A p.Gly1433Glu Missense 24/28 -
3-38592282-C-T SCN5A c.5581G>A p.Val1861Ile Missense 28/28 -
3-38598723-C-A SCN5A c.4298G>T p.Gly1433Val Missense 24/28 -
2-166908364-A-G SCN1A c.829T>C p.Cys277Arg Missense 9/29 -
3-38639246-C-T SCN5A c.2236G>A p.Glu746Lys Missense 14/28 -
2-166915194-A-G SCN1A c.269T>C p.Phe90Ser Missense 5/29 -
17-62034875-G-C SCN4A c.2023C>G p.Arg675Gly Missense 13/24 -
17-62034875-G-A SCN4A c.2023C>T p.Arg675Trp Missense 13/24 -
3-38601847-G-T SCN5A c.4036C>A p.Leu1346Ile Missense 23/28 -
17-62049085-A-T SCN4A c.608T>A p.Met203Lys Missense 4/24 -
3-38608032-C-A SCN5A c.3708G>T p.Lys1236Asn Missense 21/28 -
17-62043560-G-T SCN4A c.1144C>A p.Pro382Thr Missense 8/24 -
3-38649666-A-C SCN5A c.974T>G p.Leu325Arg Missense 8/28 -
1-27189923-T-C SFN c.220T>C p.Ser74Pro Missense 1/1 -
3-38592369-G-C SCN5A c.5494C>G p.Gln1832Glu Missense 28/28 -
3-38622846-A-G SCN5A c.2804T>C p.Leu935Pro Missense 17/28 -
3-38674589-A-C SCN5A c.210T>G p.Asn70Lys Missense 2/28 -
8-141566066-T-C AGO2 c.1198A>G p.Met400Val Missense 10/19 -
3-38651441-C-T SCN5A c.718G>A p.Val240Met Missense 7/28 -
3-38608049-C-T SCN5A c.3691G>A p.Glu1231Lys Missense 21/28 -
3-38603937-A-G SCN5A c.3932T>C p.Leu1311Pro Missense 22/28 -
6-54025187-C-G MLIP c.707C>G p.Thr236Ser Missense 5/13 -
3-38671818-T-C SCN5A c.376A>G p.Lys126Glu Missense 3/28 -
3-38622486-T-C SCN5A c.3164A>G p.Asp1055Gly Missense 17/28 -
2-166909376-A-C SCN1A c.680T>G p.Ile227Ser Missense 8/29 -
2-166909376-A-G SCN1A c.680T>C p.Ile227Thr Missense 8/29 -
1-201012442-T-A CACNA1S c.5015A>T p.Asn1672Ile Missense 40/44 -
3-38674719-C-T SCN5A c.80G>A p.Arg27His Missense 2/28 -
3-38645388-G-A SCN5A c.1705C>T p.Arg569Trp Missense 12/28 -
3-38649685-C-T SCN5A c.955G>A p.Gly319Ser Missense 8/28 -
3-38627427-T-A SCN5A c.2542A>T p.Ile848Phe Missense 16/28 -
3-38662420-C-G SCN5A c.525G>C p.Lys175Asn Missense 5/28 -
3-38662420-C-A SCN5A c.525G>T p.Lys175Asn Missense 5/28 -
17-62024443-G-A SCN4A c.3403C>T p.Arg1135Cys Missense 18/24 -
2-166904235-G-T SCN1A c.1072C>A p.Pro358Thr Missense 11/29 -
17-62049557-T-C SCN4A c.421A>G p.Ile141Val Missense 3/24 -
1-27189954-A-G SFN c.251A>G p.Tyr84Cys Missense 1/1 -
3-38592389-A-G SCN5A c.5474T>C p.Leu1825Pro Missense 28/28 -
3-38598017-A-T SCN5A c.4352T>A p.Val1451Asp Missense 25/28 -
3-38646354-C-T SCN5A c.1384G>A p.Glu462Lys Missense 11/28 -
17-62019282-G-A SCN4A c.4360C>T p.Arg1454Trp Missense 24/24 -
3-38607953-A-G SCN5A c.3787T>C p.Phe1263Leu Missense 21/28 -
3-38622739-G-A SCN5A c.2911C>T p.Arg971Cys Missense 17/28 -
3-38645489-C-T SCN5A c.1604G>A p.Arg535Gln Missense 12/28 -
3-38622757-G-A SCN5A c.2893C>T p.Arg965Cys Missense 17/28 -
3-38601667-C-T SCN5A c.4216G>A p.Gly1406Arg Missense 23/28 -
2-166905396-C-T SCN1A c.1028G>A p.Gly343Asp Missense 10/29 -
3-38645381-C-A SCN5A c.1712G>T p.Ser571Ile Missense 12/28 -
2-166911226-G-A SCN1A c.524C>T p.Ala175Val Missense 7/29 -
3-38607951-G-C SCN5A c.3789C>G p.Phe1263Leu Missense 21/28 -
3-38592929-G-A SCN5A c.4934C>T p.Thr1645Met Missense 28/28 -
3-38598738-G-A SCN5A c.4283C>T p.Ala1428Val Missense 24/28 -
19-34001956-T-C PEPD c.307A>G p.Ser103Gly Missense 3/15 -
2-166894320-A-T SCN1A c.2879T>A p.Val960Asp Missense 18/29 -
3-38655270-C-G SCN5A c.667G>C p.Val223Leu Missense 6/28 -
2-166908437-G-C SCN1A c.756C>G p.Ile252Met Missense 9/29 -
3-38663892-C-G SCN5A c.481G>C p.Glu161Gln Missense 4/28 -
3-38592561-T-C SCN5A c.5302A>G p.Ile1768Val Missense 28/28 -
2-166915191-A-G SCN1A c.272T>C p.Ile91Thr Missense 5/29 -
2-166859052-G-A SCN1A c.4181C>T p.Thr1394Ile Missense 24/29 -
3-38647543-C-T SCN5A c.1237G>A p.Ala413Thr Missense 10/28 -
2-166848633-A-C SCN1A c.5119T>G p.Phe1707Val Missense 29/29 -
2-166911187-T-A SCN1A c.563A>T p.Asp188Val Missense 7/29 -
3-38595989-C-T SCN5A c.4594G>A p.Val1532Ile Missense 27/28 -
3-38592051-C-T SCN5A c.5812G>A p.Glu1938Lys Missense 28/28 -
3-38671913-A-C SCN5A c.281T>G p.Ile94Ser Missense 3/28 -
3-38592933-G-A SCN5A c.4930C>T p.Arg1644Cys Missense 28/28 -
3-38649696-A-G SCN5A c.944T>C p.Leu315Pro Missense 8/28 -
3-38620965-C-T SCN5A c.3250G>A p.Gly1084Ser Missense 18/28 -
3-38601806-C-G SCN5A c.4077G>C p.Lys1359Asn Missense 23/28 -
3-38592439-A-T SCN5A c.5424T>A p.Phe1808Leu Missense 28/28 -
3-38592567-T-A SCN5A c.5296A>T p.Met1766Leu Missense 28/28 -
3-38598727-T-C SCN5A c.4294A>G p.Arg1432Gly Missense 24/28 -
2-166911182-A-G SCN1A c.568T>C p.Trp190Arg Missense 7/29 -
3-38647555-G-C SCN5A c.1225C>G p.Leu409Val Missense 10/28 -
3-38674641-C-T SCN5A c.158G>A p.Arg53Gln Missense 2/28 -
3-38601852-A-G SCN5A c.4031T>C p.Phe1344Ser Missense 23/28 -
1-201012544-A-T CACNA1S c.4913T>A p.Met1638Lys Missense 40/44 -
3-38598742-C-A SCN5A c.4279G>T p.Ala1427Ser Missense 24/28 -
3-38645519-CT-TT SCN5A c.1573_1574delAGinsTT p.Ser525Phe Missense 12/28 -
2-166848142-C-A SCN1A c.5610G>T p.Glu1870Asp Missense 29/29 -
2-166848142-C-G SCN1A c.5610G>C p.Glu1870Asp Missense 29/29 -
3-38671867-G-C SCN5A c.327C>G p.Asn109Lys Missense 3/28 -
3-38671867-G-T SCN5A c.327C>A p.Asn109Lys Missense 3/28 -
17-62036630-G-C SCN4A c.2014C>G p.Arg672Gly Missense 12/24 -
3-38648282-G-A SCN5A c.1018C>T p.Arg340Trp Missense 9/28 -
17-62036630-G-T SCN4A c.2014C>A p.Arg672Ser Missense 12/24 -
17-62036630-G-A SCN4A c.2014C>T p.Arg672Cys Missense 12/24 -
3-38640414-A-G SCN5A c.2018T>C p.Leu673Pro Missense 13/28 -
3-38607994-A-T SCN5A c.3746T>A p.Val1249Asp Missense 21/28 -
1-27190353-CC-AG SFN c.650_651delCCinsAG p.Thr217Lys Missense 1/1 -
3-38592749-A-G SCN5A c.5114T>C p.Phe1705Ser Missense 28/28 -
3-38648242-G-A SCN5A c.1058C>T p.Thr353Ile Missense 9/28 -
3-38645498-A-C SCN5A c.1595T>G p.Phe532Cys Missense 12/28 -
2-166915140-A-C SCN1A c.323T>G p.Leu108Arg Missense 5/29 -
3-38627337-G-A SCN5A c.2632C>T p.Arg878Cys Missense 16/28 -
3-38627268-C-T SCN5A c.2701G>A p.Glu901Lys Missense 16/28 -
2-166915128-G-A SCN1A c.335C>T p.Thr112Ile Missense 5/29 -
3-38592908-A-C SCN5A c.4955T>G p.Met1652Arg Missense 28/28 -
3-38674565-C-G SCN5A c.234G>C p.Glu78Asp Missense 2/28 -
3-38592494-T-C SCN5A c.5369A>G p.Asp1790Gly Missense 28/28 -
3-38645249-C-T SCN5A c.1844G>A p.Gly615Glu Missense 12/28 -
3-38592018-C-A SCN5A c.5845G>T p.Ala1949Ser Missense 28/28 -
3-38618271-G-A SCN5A c.3392C>T p.Thr1131Ile Missense 19/28 -
3-38591853-A-G SCN5A c.6010T>C p.Phe2004Leu Missense 28/28 -
3-38597996-G-T SCN5A c.4373C>A p.Ser1458Tyr Missense 25/28 -
3-38592848-G-T SCN5A c.5015C>A p.Ser1672Tyr Missense 28/28 -
3-38591934-A-T SCN5A c.5929T>A p.Tyr1977Asn Missense 28/28 -
17-62019214-C-G SCN4A c.4428G>C p.Met1476Ile Missense 24/24 -
17-62019214-C-A SCN4A c.4428G>T p.Met1476Ile Missense 24/24 -
17-62019214-C-T SCN4A c.4428G>A p.Met1476Ile Missense 24/24 -
17-62038636-T-C SCN4A c.1762A>G p.Ile588Val Missense 11/24 -
17-62018727-G-C SCN4A c.4915C>G p.Arg1639Gly Missense 24/24 -
3-38592479-T-C SCN5A c.5384A>G p.Tyr1795Cys Missense 28/28 -
17-62019200-G-T SCN4A c.4442C>A p.Ala1481Asp Missense 24/24 -
3-38639443-C-T SCN5A c.2039G>A p.Arg680His Missense 14/28 -
3-38592247-C-A SCN5A c.5616G>T p.Lys1872Asn Missense 28/28 -
3-38592247-C-G SCN5A c.5616G>C p.Lys1872Asn Missense 28/28 -
3-38651426-G-T SCN5A c.733C>A p.Gln245Lys Missense 7/28 -
3-38601851-G-T SCN5A c.4032C>A p.Phe1344Leu Missense 23/28 -
3-38597209-A-T SCN5A c.4480T>A p.Tyr1494Asn Missense 26/28 -
3-38608058-A-G SCN5A c.3682T>C p.Tyr1228His Missense 21/28 -
17-62026790-G-C SCN4A c.2952C>G p.Asn984Lys Missense 15/24 -
17-62041103-G-A SCN4A c.1535C>T p.Thr512Ile Missense 10/24 -
3-38647562-G-T SCN5A c.1218C>A p.Asn406Lys Missense 10/28 -
1-201058509-A-T CACNA1S c.777T>A p.Ser259Arg Missense 6/44 -
1-201058509-A-C CACNA1S c.777T>G p.Ser259Arg Missense 6/44 -
3-38598724-C-G SCN5A c.4297G>C p.Gly1433Arg Missense 24/28 -
3-38655263-C-T SCN5A c.674G>A p.Arg225Gln Missense 6/28 -
3-38645379-C-A SCN5A c.1714G>T p.Ala572Ser Missense 12/28 -
3-38647563-T-C SCN5A c.1217A>G p.Asn406Ser Missense 10/28 -
2-166908355-A-T SCN1A c.838T>A p.Trp280Arg Missense 9/29 -
3-38597982-T-A SCN5A c.4387A>T p.Asn1463Tyr Missense 25/28 -
2-166908355-A-G SCN1A c.838T>C p.Trp280Arg Missense 9/29 -
17-62019299-C-T SCN4A c.4343G>A p.Arg1448His Missense 24/24 -
3-38651314-C-T SCN5A c.845G>A p.Arg282His Missense 7/28 -
3-38639380-G-A SCN5A c.2102C>T p.Pro701Leu Missense 14/28 -
1-201027594-A-G CACNA1S c.3551T>C p.Val1184Ala Missense 28/44 -
17-62018773-TG-AC SCN4A c.4868_4869delCAinsAC p.Thr1623Asn Missense 24/24 -
3-38647447-G-C SCN5A c.1333C>G p.His445Asp Missense 10/28 -
17-62036632-A-G SCN4A c.2012T>C p.Phe671Ser Missense 12/24 -
1-201017763-A-G CACNA1S c.4388T>C p.Phe1463Ser Missense 36/44 -
3-38596003-T-C SCN5A c.4580A>G p.Lys1527Arg Missense 27/28 -
2-166848450-T-C SCN1A c.5302A>G p.Asn1768Asp Missense 29/29 -
3-38592093-C-T SCN5A c.5770G>A p.Ala1924Thr Missense 28/28 -
2-166908432-G-A SCN1A c.761C>T p.Thr254Ile Missense 9/29 -
3-38597952-A-C SCN5A c.4417T>G p.Phe1473Val Missense 25/28 -
3-38640522-G-A SCN5A c.1910C>T p.Pro637Leu Missense 13/28 -
3-38592567-T-G SCN5A c.5296A>C p.Met1766Leu Missense 28/28 -
3-38601670-C-G SCN5A c.4213G>C p.Val1405Leu Missense 23/28 -
3-38627312-T-G SCN5A c.2657A>C p.His886Pro Missense 16/28 -
3-38639228-C-T SCN5A c.2254G>A p.Gly752Arg Missense 14/28 -
3-38595941-C-T SCN5A c.4642G>A p.Glu1548Lys Missense 27/28 -
3-38592554-A-G SCN5A c.5309T>C p.Ile1770Thr Missense 28/28 -
3-38592554-A-T SCN5A c.5309T>A p.Ile1770Asn Missense 28/28 -
2-166929959-C-A SCN1A c.173G>T p.Gly58Val Missense 4/29 -
3-38627186-A-G SCN5A c.2783T>C p.Leu928Pro Missense 16/28 -
3-38618167-C-T SCN5A c.3496G>A p.Asp1166Asn Missense 19/28 -
3-38601831-A-C SCN5A c.4052T>G p.Met1351Arg Missense 23/28 -
3-38603923-G-C SCN5A c.3946C>G p.Arg1316Gly Missense 22/28 -
3-38601909-T-C SCN5A c.3974A>G p.Asn1325Ser Missense 23/28 -
3-38593004-G-A SCN5A c.4859C>T p.Thr1620Met Missense 28/28 -
3-38671883-C-T SCN5A c.311G>A p.Arg104Gln Missense 3/28 -
3-38601811-C-A SCN5A c.4072G>T p.Gly1358Trp Missense 23/28 -
17-62018745-G-C SCN4A c.4897C>G p.Gln1633Glu Missense 24/24 -
3-38601661-C-T SCN5A c.4222G>A p.Gly1408Arg Missense 23/28 -
3-38671911-C-T SCN5A c.283G>A p.Val95Ile Missense 3/28 -
6-54025186-A-T MLIP c.706A>T p.Thr236Ser Missense 5/13 -
17-62019335-A-G SCN4A c.4307T>C p.Leu1436Pro Missense 24/24 -
3-38595802-A-G SCN5A c.4781T>C p.Phe1594Ser Missense 27/28 -
3-38593004-G-T SCN5A c.4859C>A p.Thr1620Lys Missense 28/28 -
1-201038279-C-T CACNA1S c.2536G>A p.Glu846Lys Missense 19/44 -
2-166908478-C-T SCN1A c.715G>A p.Ala239Thr Missense 9/29 -
2-166929943-A-T SCN1A c.189T>A p.Phe63Leu Missense 4/29 -
2-166929943-A-C SCN1A c.189T>G p.Phe63Leu Missense 4/29 -
3-38592408-C-T SCN5A c.5455G>A p.Asp1819Asn Missense 28/28 -
3-38645516-C-T SCN5A c.1577G>A p.Arg526His Missense 12/28 -