Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.18539481_18539579del	CA592060486	CACNB2,NSUN6	c.1596_1694del (p.His533_Asp565del) c.1461_1559del (p.His488_Asp520del) c.1584_1682del (p.His529_Asp561del) c.1656_1754del (p.His553_Asp585del) c.1740_1838del (p.His581_Asp613del) c.1578_1676del (p.His527_Asp559del) c.1365_1463del (p.His456_Asp488del) c.1542_1640del (p.His515_Asp547del) c.881_979del (n.881_979del) c.1482_1580del (p.His495_Asp527del) c.1014_1112del (n.1014_1112del) c.1297_1395del (n.1297_1395del) c.979_1077del (n.979_1077del) c.1560_1658del (p.His521_Asp553del) c.840_938del (n.840_938del) c.1668_1766del (p.His557_Asp589del) c.990_1088del (p.His331_Asp363del) c.1575_1673del (p.His526_Asp558del) c.1444_1542del (n.1444_1542del) c.252_350del (p.His85_Asp117del) c.825_923del (p.His276_Asp308del) c.1503_1601del (p.His502_Asp534del) c.1626_1724del (p.His543_Asp575del) c.900_998del (p.His301_Asp333del) c.1506_1604del (p.His503_Asp535del) n.2423+2497_2423+2595del n.1865_1963del	gnomAD v2
10	g.18539507_18539542del	CA5430159	CACNB2,NSUN6	c.1622_1657del (p.Asn541_His552del) c.1487_1522del (p.Asn496_His507del) c.1610_1645del (p.Asn537_His548del) c.1682_1717del (p.Asn561_His572del) c.1766_1801del (p.Asn589_His600del) c.1604_1639del (p.Asn535_His546del) c.1391_1426del (p.Asn464_His475del) c.1568_1603del (p.Asn523_His534del) c.907_942del (n.907_942del) c.1508_1543del (p.Asn503_His514del) c.1040_1075del (n.1040_1075del) c.1323_1358del (n.1323_1358del) c.1005_1040del (n.1005_1040del) c.1586_1621del (p.Asn529_His540del) c.866_901del (n.866_901del) c.1694_1729del (p.Asn565_His576del) c.1016_1051del (p.Asn339_His350del) c.1601_1636del (p.Asn534_His545del) c.1470_1505del (n.1470_1505del) c.278_313del (p.Asn93_His104del) c.851_886del (p.Asn284_His295del) c.1529_1564del (p.Asn510_His521del) c.1652_1687del (p.Asn551_His562del) c.926_961del (p.Asn309_His320del) c.1532_1567del (p.Asn511_His522del) n.2423+2536_2423+2571del n.1891_1926del	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539515_18539544dup	CA2608435629	CACNB2,NSUN6	c.1630_1659dup (p.Arg553_His554insAspGluThrHisGlySerSerAspHisArg) c.1495_1524dup (p.Arg508_His509insAspGluThrHisGlySerSerAspHisArg) c.1618_1647dup (p.Arg549_His550insAspGluThrHisGlySerSerAspHisArg) c.1690_1719dup (p.Arg573_His574insAspGluThrHisGlySerSerAspHisArg) c.1774_1803dup (p.Arg601_His602insAspGluThrHisGlySerSerAspHisArg) c.1612_1641dup (p.Arg547_His548insAspGluThrHisGlySerSerAspHisArg) c.1399_1428dup (p.Arg476_His477insAspGluThrHisGlySerSerAspHisArg) c.1576_1605dup (p.Arg535_His536insAspGluThrHisGlySerSerAspHisArg) c.915_944dup (n.915_944dup) c.1516_1545dup (p.Arg515_His516insAspGluThrHisGlySerSerAspHisArg) c.1048_1077dup (n.1048_1077dup) c.1331_1360dup (n.1331_1360dup) c.1013_1042dup (n.1013_1042dup) c.1594_1623dup (p.Arg541_His542insAspGluThrHisGlySerSerAspHisArg) c.874_903dup (n.874_903dup) c.1702_1731dup (p.Arg577_His578insAspGluThrHisGlySerSerAspHisArg) c.1024_1053dup (p.Arg351_His352insAspGluThrHisGlySerSerAspHisArg) c.1609_1638dup (p.Arg546_His547insAspGluThrHisGlySerSerAspHisArg) c.1478_1507dup (n.1478_1507dup) c.286_315dup (p.Arg105_His106insAspGluThrHisGlySerSerAspHisArg) c.859_888dup (p.Arg296_His297insAspGluThrHisGlySerSerAspHisArg) c.1537_1566dup (p.Arg522_His523insAspGluThrHisGlySerSerAspHisArg) c.1660_1689dup (p.Arg563_His564insAspGluThrHisGlySerSerAspHisArg) c.934_963dup (p.Arg321_His322insAspGluThrHisGlySerSerAspHisArg) c.1540_1569dup (p.Arg523_His524insAspGluThrHisGlySerSerAspHisArg) n.2423+2533_2423+2562dup n.1899_1928dup	gnomAD v4
10	g.18539529_18539540delinsGAGCAGTGACCA	CA1894173767	CACNB2,NSUN6	c.1644_1655delinsGAGCAGTGACCA (p.Gly548=) c.1509_1520delinsGAGCAGTGACCA (p.Gly503=) c.1632_1643delinsGAGCAGTGACCA (p.Gly544=) c.1704_1715delinsGAGCAGTGACCA (p.Gly568=) c.1788_1799delinsGAGCAGTGACCA (p.Gly596=) c.1626_1637delinsGAGCAGTGACCA (p.Gly542=) c.1413_1424delinsGAGCAGTGACCA (p.Gly471=) c.1590_1601delinsGAGCAGTGACCA (p.Gly530=) c.929_940delinsGAGCAGTGACCA (n.929_940delinsGAGCAGTGACCA) c.1530_1541delinsGAGCAGTGACCA (p.Gly510=) c.1062_1073delinsGAGCAGTGACCA (n.1062_1073delinsGAGCAGTGACCA) c.1345_1356delinsGAGCAGTGACCA (n.1345_1356delinsGAGCAGTGACCA) c.1027_1038delinsGAGCAGTGACCA (n.1027_1038delinsGAGCAGTGACCA) c.1608_1619delinsGAGCAGTGACCA (p.Gly536=) c.888_899delinsGAGCAGTGACCA (n.888_899delinsGAGCAGTGACCA) c.1716_1727delinsGAGCAGTGACCA (p.Gly572=) c.1038_1049delinsGAGCAGTGACCA (p.Gly346=) c.1623_1634delinsGAGCAGTGACCA (p.Gly541=) c.1492_1503delinsGAGCAGTGACCA (n.1492_1503delinsGAGCAGTGACCA) c.300_311delinsGAGCAGTGACCA (p.Gly100=) c.873_884delinsGAGCAGTGACCA (p.Gly291=) c.1551_1562delinsGAGCAGTGACCA (p.Gly517=) c.1674_1685delinsGAGCAGTGACCA (p.Gly558=) c.948_959delinsGAGCAGTGACCA (p.Gly316=) c.1554_1565delinsGAGCAGTGACCA (p.Gly518=) n.2423+2529_2423+2540delinsTGGTCACTGCTC n.1913_1924delinsGAGCAGTGACCA
10	g.18539530_18539540del	CA925494137	CACNB2,NSUN6	c.1645_1655del (p.Ser549GlnfsTer29) c.1510_1520del (p.Ser504GlnfsTer29) c.1633_1643del (p.Ser545GlnfsTer29) c.1705_1715del (p.Ser569GlnfsTer29) c.1789_1799del (p.Ser597GlnfsTer29) c.1627_1637del (p.Ser543GlnfsTer29) c.1414_1424del (p.Ser472GlnfsTer29) c.1591_1601del (p.Ser531GlnfsTer29) c.930_940del (n.930_940del) c.1531_1541del (p.Ser511GlnfsTer29) c.1063_1073del (n.1063_1073del) c.1346_1356del (n.1346_1356del) c.1028_1038del (n.1028_1038del) c.1609_1619del (p.Ser537GlnfsTer29) c.889_899del (n.889_899del) c.1717_1727del (p.Ser573GlnfsTer29) c.1039_1049del (p.Ser347GlnfsTer29) c.1624_1634del (p.Ser542GlnfsTer29) c.1493_1503del (n.1493_1503del) c.301_311del (p.Ser101GlnfsTer29) c.874_884del (p.Ser292GlnfsTer29) c.1552_1562del (p.Ser518GlnfsTer29) c.1675_1685del (p.Ser559GlnfsTer29) c.949_959del (p.Ser317GlnfsTer29) c.1555_1565del (p.Ser519GlnfsTer29) n.2423+2529_2423+2539del n.1914_1924del	dbSNP gnomAD v3 gnomAD v4
10	g.18539540_18539557dup	CA2608435634	CACNB2,NSUN6	c.1655_1672dup (p.Ser557_Arg558insHisArgHisArgGluSer) c.1520_1537dup (p.Ser512_Arg513insHisArgHisArgGluSer) c.1643_1660dup (p.Ser553_Arg554insHisArgHisArgGluSer) c.1715_1732dup (p.Ser577_Arg578insHisArgHisArgGluSer) c.1799_1816dup (p.Ser605_Arg606insHisArgHisArgGluSer) c.1637_1654dup (p.Ser551_Arg552insHisArgHisArgGluSer) c.1424_1441dup (p.Ser480_Arg481insHisArgHisArgGluSer) c.1601_1618dup (p.Ser539_Arg540insHisArgHisArgGluSer) c.940_957dup (n.940_957dup) c.1541_1558dup (p.Ser519_Arg520insHisArgHisArgGluSer) c.1073_1090dup (n.1073_1090dup) c.1356_1373dup (n.1356_1373dup) c.1038_1055dup (n.1038_1055dup) c.1619_1636dup (p.Ser545_Arg546insHisArgHisArgGluSer) c.899_916dup (n.899_916dup) c.1727_1744dup (p.Ser581_Arg582insHisArgHisArgGluSer) c.1049_1066dup (p.Ser355_Arg356insHisArgHisArgGluSer) c.1634_1651dup (p.Ser550_Arg551insHisArgHisArgGluSer) c.1503_1520dup (n.1503_1520dup) c.311_328dup (p.Ser109_Arg110insHisArgHisArgGluSer) c.884_901dup (p.Ser300_Arg301insHisArgHisArgGluSer) c.1562_1579dup (p.Ser526_Arg527insHisArgHisArgGluSer) c.1685_1702dup (p.Ser567_Arg568insHisArgHisArgGluSer) c.959_976dup (p.Ser325_Arg326insHisArgHisArgGluSer) c.1565_1582dup (p.Ser527_Arg528insHisArgHisArgGluSer) n.2423+2514_2423+2531dup n.1924_1941dup	gnomAD v4
10	g.18539544_18539549del	CA2608435635	CACNB2,NSUN6	c.1659_1664del (p.His554_Arg555del) c.1524_1529del (p.His509_Arg510del) c.1647_1652del (p.His550_Arg551del) c.1719_1724del (p.His574_Arg575del) c.1803_1808del (p.His602_Arg603del) c.1641_1646del (p.His548_Arg549del) c.1428_1433del (p.His477_Arg478del) c.1605_1610del (p.His536_Arg537del) c.944_949del (n.944_949del) c.1545_1550del (p.His516_Arg517del) c.1077_1082del (n.1077_1082del) c.1360_1365del (n.1360_1365del) c.1042_1047del (n.1042_1047del) c.1623_1628del (p.His542_Arg543del) c.903_908del (n.903_908del) c.1731_1736del (p.His578_Arg579del) c.1053_1058del (p.His352_Arg353del) c.1638_1643del (p.His547_Arg548del) c.1507_1512del (n.1507_1512del) c.315_320del (p.His106_Arg107del) c.888_893del (p.His297_Arg298del) c.1566_1571del (p.His523_Arg524del) c.1689_1694del (p.His564_Arg565del) c.963_968del (p.His322_Arg323del) c.1569_1574del (p.His524_Arg525del) n.2423+2525_2423+2530del n.1928_1933del	gnomAD v4
10	g.18539540A>C	CA376072315	CACNB2,NSUN6	c.1655A>C (p.His552Pro) c.1520A>C (p.His507Pro) c.1643A>C (p.His548Pro) c.1715A>C (p.His572Pro) c.1799A>C (p.His600Pro) c.1637A>C (p.His546Pro) c.1424A>C (p.His475Pro) c.1601A>C (p.His534Pro) c.940A>C (n.940A>C) c.1541A>C (p.His514Pro) c.1073A>C (n.1073A>C) c.1356A>C (n.1356A>C) c.1038A>C (n.1038A>C) c.1619A>C (p.His540Pro) c.899A>C (n.899A>C) c.1727A>C (p.His576Pro) c.1049A>C (p.His350Pro) c.1634A>C (p.His545Pro) c.1503A>C (n.1503A>C) c.311A>C (p.His104Pro) c.884A>C (p.His295Pro) c.1562A>C (p.His521Pro) c.1685A>C (p.His562Pro) c.959A>C (p.His320Pro) c.1565A>C (p.His522Pro) n.2423+2529T>G n.1924A>C
10	g.18539540A>G	CA376072318	CACNB2,NSUN6	c.1655A>G (p.His552Arg) c.1520A>G (p.His507Arg) c.1643A>G (p.His548Arg) c.1715A>G (p.His572Arg) c.1799A>G (p.His600Arg) c.1637A>G (p.His546Arg) c.1424A>G (p.His475Arg) c.1601A>G (p.His534Arg) c.940A>G (n.940A>G) c.1541A>G (p.His514Arg) c.1073A>G (n.1073A>G) c.1356A>G (n.1356A>G) c.1038A>G (n.1038A>G) c.1619A>G (p.His540Arg) c.899A>G (n.899A>G) c.1727A>G (p.His576Arg) c.1049A>G (p.His350Arg) c.1634A>G (p.His545Arg) c.1503A>G (n.1503A>G) c.311A>G (p.His104Arg) c.884A>G (p.His295Arg) c.1562A>G (p.His521Arg) c.1685A>G (p.His562Arg) c.959A>G (p.His320Arg) c.1565A>G (p.His522Arg) n.2423+2529T>C n.1924A>G
10	g.18539540A>T	CA376072320	CACNB2,NSUN6	c.1655A>T (p.His552Leu) c.1520A>T (p.His507Leu) c.1643A>T (p.His548Leu) c.1715A>T (p.His572Leu) c.1799A>T (p.His600Leu) c.1637A>T (p.His546Leu) c.1424A>T (p.His475Leu) c.1601A>T (p.His534Leu) c.940A>T (n.940A>T) c.1541A>T (p.His514Leu) c.1073A>T (n.1073A>T) c.1356A>T (n.1356A>T) c.1038A>T (n.1038A>T) c.1619A>T (p.His540Leu) c.899A>T (n.899A>T) c.1727A>T (p.His576Leu) c.1049A>T (p.His350Leu) c.1634A>T (p.His545Leu) c.1503A>T (n.1503A>T) c.311A>T (p.His104Leu) c.884A>T (p.His295Leu) c.1562A>T (p.His521Leu) c.1685A>T (p.His562Leu) c.959A>T (p.His320Leu) c.1565A>T (p.His522Leu) n.2423+2529T>A n.1924A>T
10	g.18539541C>A	CA376072323	CACNB2,NSUN6	c.1656C>A (p.His552Gln) c.1521C>A (p.His507Gln) c.1644C>A (p.His548Gln) c.1716C>A (p.His572Gln) c.1800C>A (p.His600Gln) c.1638C>A (p.His546Gln) c.1425C>A (p.His475Gln) c.1602C>A (p.His534Gln) c.941C>A (n.941C>A) c.1542C>A (p.His514Gln) c.1074C>A (n.1074C>A) c.1357C>A (n.1357C>A) c.1039C>A (n.1039C>A) c.1620C>A (p.His540Gln) c.900C>A (n.900C>A) c.1728C>A (p.His576Gln) c.1050C>A (p.His350Gln) c.1635C>A (p.His545Gln) c.1504C>A (n.1504C>A) c.312C>A (p.His104Gln) c.885C>A (p.His295Gln) c.1563C>A (p.His521Gln) c.1686C>A (p.His562Gln) c.960C>A (p.His320Gln) c.1566C>A (p.His522Gln) n.2423+2528G>T n.1925C>A	gnomAD v4
10	g.18539541C>G	CA376072324	CACNB2,NSUN6	c.1656C>G (p.His552Gln) c.1521C>G (p.His507Gln) c.1644C>G (p.His548Gln) c.1716C>G (p.His572Gln) c.1800C>G (p.His600Gln) c.1638C>G (p.His546Gln) c.1425C>G (p.His475Gln) c.1602C>G (p.His534Gln) c.941C>G (n.941C>G) c.1542C>G (p.His514Gln) c.1074C>G (n.1074C>G) c.1357C>G (n.1357C>G) c.1039C>G (n.1039C>G) c.1620C>G (p.His540Gln) c.900C>G (n.900C>G) c.1728C>G (p.His576Gln) c.1050C>G (p.His350Gln) c.1635C>G (p.His545Gln) c.1504C>G (n.1504C>G) c.312C>G (p.His104Gln) c.885C>G (p.His295Gln) c.1563C>G (p.His521Gln) c.1686C>G (p.His562Gln) c.960C>G (p.His320Gln) c.1566C>G (p.His522Gln) n.2423+2528G>C n.1925C>G
10	g.18539541C>T	CA468630053	CACNB2,NSUN6	c.1656C>T (p.His552=) c.1521C>T (p.His507=) c.1644C>T (p.His548=) c.1716C>T (p.His572=) c.1800C>T (p.His600=) c.1638C>T (p.His546=) c.1425C>T (p.His475=) c.1602C>T (p.His534=) c.941C>T (n.941C>T) c.1542C>T (p.His514=) c.1074C>T (n.1074C>T) c.1357C>T (n.1357C>T) c.1039C>T (n.1039C>T) c.1620C>T (p.His540=) c.900C>T (n.900C>T) c.1728C>T (p.His576=) c.1050C>T (p.His350=) c.1635C>T (p.His545=) c.1504C>T (n.1504C>T) c.312C>T (p.His104=) c.885C>T (p.His295=) c.1563C>T (p.His521=) c.1686C>T (p.His562=) c.960C>T (p.His320=) c.1566C>T (p.His522=) n.2423+2528G>A n.1925C>T
10	g.18539542A>C	CA468630058	CACNB2,NSUN6	c.1657A>C (p.Arg553=) c.1522A>C (p.Arg508=) c.1645A>C (p.Arg549=) c.1717A>C (p.Arg573=) c.1801A>C (p.Arg601=) c.1639A>C (p.Arg547=) c.1426A>C (p.Arg476=) c.1603A>C (p.Arg535=) c.942A>C (n.942A>C) c.1543A>C (p.Arg515=) c.1075A>C (n.1075A>C) c.1358A>C (n.1358A>C) c.1040A>C (n.1040A>C) c.1621A>C (p.Arg541=) c.901A>C (n.901A>C) c.1729A>C (p.Arg577=) c.1051A>C (p.Arg351=) c.1636A>C (p.Arg546=) c.1505A>C (n.1505A>C) c.313A>C (p.Arg105=) c.886A>C (p.Arg296=) c.1564A>C (p.Arg522=) c.1687A>C (p.Arg563=) c.961A>C (p.Arg321=) c.1567A>C (p.Arg523=) n.2423+2527T>G n.1926A>C
10	g.18539542A>G	CA376072327	CACNB2,NSUN6	c.1657A>G (p.Arg553Gly) c.1522A>G (p.Arg508Gly) c.1645A>G (p.Arg549Gly) c.1717A>G (p.Arg573Gly) c.1801A>G (p.Arg601Gly) c.1639A>G (p.Arg547Gly) c.1426A>G (p.Arg476Gly) c.1603A>G (p.Arg535Gly) c.942A>G (n.942A>G) c.1543A>G (p.Arg515Gly) c.1075A>G (n.1075A>G) c.1358A>G (n.1358A>G) c.1040A>G (n.1040A>G) c.1621A>G (p.Arg541Gly) c.901A>G (n.901A>G) c.1729A>G (p.Arg577Gly) c.1051A>G (p.Arg351Gly) c.1636A>G (p.Arg546Gly) c.1505A>G (n.1505A>G) c.313A>G (p.Arg105Gly) c.886A>G (p.Arg296Gly) c.1564A>G (p.Arg522Gly) c.1687A>G (p.Arg563Gly) c.961A>G (p.Arg321Gly) c.1567A>G (p.Arg523Gly) n.2423+2527T>C n.1926A>G
10	g.18539542A>T	CA376072329	CACNB2,NSUN6	c.1657A>T (p.Arg553Ter) c.1522A>T (p.Arg508Ter) c.1645A>T (p.Arg549Ter) c.1717A>T (p.Arg573Ter) c.1801A>T (p.Arg601Ter) c.1639A>T (p.Arg547Ter) c.1426A>T (p.Arg476Ter) c.1603A>T (p.Arg535Ter) c.942A>T (n.942A>T) c.1543A>T (p.Arg515Ter) c.1075A>T (n.1075A>T) c.1358A>T (n.1358A>T) c.1040A>T (n.1040A>T) c.1621A>T (p.Arg541Ter) c.901A>T (n.901A>T) c.1729A>T (p.Arg577Ter) c.1051A>T (p.Arg351Ter) c.1636A>T (p.Arg546Ter) c.1505A>T (n.1505A>T) c.313A>T (p.Arg105Ter) c.886A>T (p.Arg296Ter) c.1564A>T (p.Arg522Ter) c.1687A>T (p.Arg563Ter) c.961A>T (p.Arg321Ter) c.1567A>T (p.Arg523Ter) n.2423+2527T>A n.1926A>T
10	g.18539543G>A	CA376072333	CACNB2,NSUN6	c.1658G>A (p.Arg553Lys) c.1523G>A (p.Arg508Lys) c.1646G>A (p.Arg549Lys) c.1718G>A (p.Arg573Lys) c.1802G>A (p.Arg601Lys) c.1640G>A (p.Arg547Lys) c.1427G>A (p.Arg476Lys) c.1604G>A (p.Arg535Lys) c.943G>A (n.943G>A) c.1544G>A (p.Arg515Lys) c.1076G>A (n.1076G>A) c.1359G>A (n.1359G>A) c.1041G>A (n.1041G>A) c.1622G>A (p.Arg541Lys) c.902G>A (n.902G>A) c.1730G>A (p.Arg577Lys) c.1052G>A (p.Arg351Lys) c.1637G>A (p.Arg546Lys) c.1506G>A (n.1506G>A) c.314G>A (p.Arg105Lys) c.887G>A (p.Arg296Lys) c.1565G>A (p.Arg522Lys) c.1688G>A (p.Arg563Lys) c.962G>A (p.Arg321Lys) c.1568G>A (p.Arg523Lys) n.2423+2526C>T n.1927G>A	gnomAD v4
10	g.18539543G>C	CA376072334	CACNB2,NSUN6	c.1658G>C (p.Arg553Thr) c.1523G>C (p.Arg508Thr) c.1646G>C (p.Arg549Thr) c.1718G>C (p.Arg573Thr) c.1802G>C (p.Arg601Thr) c.1640G>C (p.Arg547Thr) c.1427G>C (p.Arg476Thr) c.1604G>C (p.Arg535Thr) c.943G>C (n.943G>C) c.1544G>C (p.Arg515Thr) c.1076G>C (n.1076G>C) c.1359G>C (n.1359G>C) c.1041G>C (n.1041G>C) c.1622G>C (p.Arg541Thr) c.902G>C (n.902G>C) c.1730G>C (p.Arg577Thr) c.1052G>C (p.Arg351Thr) c.1637G>C (p.Arg546Thr) c.1506G>C (n.1506G>C) c.314G>C (p.Arg105Thr) c.887G>C (p.Arg296Thr) c.1565G>C (p.Arg522Thr) c.1688G>C (p.Arg563Thr) c.962G>C (p.Arg321Thr) c.1568G>C (p.Arg523Thr) n.2423+2526C>G n.1927G>C	gnomAD v4
10	g.18539543G>T	CA376072337	CACNB2,NSUN6	c.1658G>T (p.Arg553Ile) c.1523G>T (p.Arg508Ile) c.1646G>T (p.Arg549Ile) c.1718G>T (p.Arg573Ile) c.1802G>T (p.Arg601Ile) c.1640G>T (p.Arg547Ile) c.1427G>T (p.Arg476Ile) c.1604G>T (p.Arg535Ile) c.943G>T (n.943G>T) c.1544G>T (p.Arg515Ile) c.1076G>T (n.1076G>T) c.1359G>T (n.1359G>T) c.1041G>T (n.1041G>T) c.1622G>T (p.Arg541Ile) c.902G>T (n.902G>T) c.1730G>T (p.Arg577Ile) c.1052G>T (p.Arg351Ile) c.1637G>T (p.Arg546Ile) c.1506G>T (n.1506G>T) c.314G>T (p.Arg105Ile) c.887G>T (p.Arg296Ile) c.1565G>T (p.Arg522Ile) c.1688G>T (p.Arg563Ile) c.962G>T (p.Arg321Ile) c.1568G>T (p.Arg523Ile) n.2423+2526C>A n.1927G>T
10	g.18539544A=	CA1894173793	CACNB2,NSUN6	c.1659A= (p.Arg553=) c.1524A= (p.Arg508=) c.1647A= (p.Arg549=) c.1719A= (p.Arg573=) c.1803A= (p.Arg601=) c.1641A= (p.Arg547=) c.1428A= (p.Arg476=) c.1605A= (p.Arg535=) c.944A= (n.944A=) c.1545A= (p.Arg515=) c.1077A= (n.1077A=) c.1360A= (n.1360A=) c.1042A= (n.1042A=) c.1623A= (p.Arg541=) c.903A= (n.903A=) c.1731A= (p.Arg577=) c.1053A= (p.Arg351=) c.1638A= (p.Arg546=) c.1507A= (n.1507A=) c.315A= (p.Arg105=) c.888A= (p.Arg296=) c.1566A= (p.Arg522=) c.1689A= (p.Arg563=) c.963A= (p.Arg321=) c.1569A= (p.Arg523=) n.2423+2525T= n.1928A=
10	g.18539544A>C	CA376072339	CACNB2,NSUN6	c.1659A>C (p.Arg553Ser) c.1524A>C (p.Arg508Ser) c.1647A>C (p.Arg549Ser) c.1719A>C (p.Arg573Ser) c.1803A>C (p.Arg601Ser) c.1641A>C (p.Arg547Ser) c.1428A>C (p.Arg476Ser) c.1605A>C (p.Arg535Ser) c.944A>C (n.944A>C) c.1545A>C (p.Arg515Ser) c.1077A>C (n.1077A>C) c.1360A>C (n.1360A>C) c.1042A>C (n.1042A>C) c.1623A>C (p.Arg541Ser) c.903A>C (n.903A>C) c.1731A>C (p.Arg577Ser) c.1053A>C (p.Arg351Ser) c.1638A>C (p.Arg546Ser) c.1507A>C (n.1507A>C) c.315A>C (p.Arg105Ser) c.888A>C (p.Arg296Ser) c.1566A>C (p.Arg522Ser) c.1689A>C (p.Arg563Ser) c.963A>C (p.Arg321Ser) c.1569A>C (p.Arg523Ser) n.2423+2525T>G n.1928A>C	gnomAD v4
10	g.18539544A>G	CA468649566	CACNB2,NSUN6	c.1659A>G (p.Arg553=) c.1524A>G (p.Arg508=) c.1647A>G (p.Arg549=) c.1719A>G (p.Arg573=) c.1803A>G (p.Arg601=) c.1641A>G (p.Arg547=) c.1428A>G (p.Arg476=) c.1605A>G (p.Arg535=) c.944A>G (n.944A>G) c.1545A>G (p.Arg515=) c.1077A>G (n.1077A>G) c.1360A>G (n.1360A>G) c.1042A>G (n.1042A>G) c.1623A>G (p.Arg541=) c.903A>G (n.903A>G) c.1731A>G (p.Arg577=) c.1053A>G (p.Arg351=) c.1638A>G (p.Arg546=) c.1507A>G (n.1507A>G) c.315A>G (p.Arg105=) c.888A>G (p.Arg296=) c.1566A>G (p.Arg522=) c.1689A>G (p.Arg563=) c.963A>G (p.Arg321=) c.1569A>G (p.Arg523=) n.2423+2525T>C n.1928A>G	dbSNP gnomAD v2 gnomAD v4
10	g.18539544A>T	CA376072340	CACNB2,NSUN6	c.1659A>T (p.Arg553Ser) c.1524A>T (p.Arg508Ser) c.1647A>T (p.Arg549Ser) c.1719A>T (p.Arg573Ser) c.1803A>T (p.Arg601Ser) c.1641A>T (p.Arg547Ser) c.1428A>T (p.Arg476Ser) c.1605A>T (p.Arg535Ser) c.944A>T (n.944A>T) c.1545A>T (p.Arg515Ser) c.1077A>T (n.1077A>T) c.1360A>T (n.1360A>T) c.1042A>T (n.1042A>T) c.1623A>T (p.Arg541Ser) c.903A>T (n.903A>T) c.1731A>T (p.Arg577Ser) c.1053A>T (p.Arg351Ser) c.1638A>T (p.Arg546Ser) c.1507A>T (n.1507A>T) c.315A>T (p.Arg105Ser) c.888A>T (p.Arg296Ser) c.1566A>T (p.Arg522Ser) c.1689A>T (p.Arg563Ser) c.963A>T (p.Arg321Ser) c.1569A>T (p.Arg523Ser) n.2423+2525T>A n.1928A>T	gnomAD v4
10	g.18539544_18539559delinsACACAGGGAGTCCCGG	CA1894173796	CACNB2,NSUN6	c.1659_1674delinsACACAGGGAGTCCCGG (p.Arg553=) c.1524_1539delinsACACAGGGAGTCCCGG (p.Arg508=) c.1647_1662delinsACACAGGGAGTCCCGG (p.Arg549=) c.1719_1734delinsACACAGGGAGTCCCGG (p.Arg573=) c.1803_1818delinsACACAGGGAGTCCCGG (p.Arg601=) c.1641_1656delinsACACAGGGAGTCCCGG (p.Arg547=) c.1428_1443delinsACACAGGGAGTCCCGG (p.Arg476=) c.1605_1620delinsACACAGGGAGTCCCGG (p.Arg535=) c.944_959delinsACACAGGGAGTCCCGG (n.944_959delinsACACAGGGAGTCCCGG) c.1545_1560delinsACACAGGGAGTCCCGG (p.Arg515=) c.1077_1092delinsACACAGGGAGTCCCGG (n.1077_1092delinsACACAGGGAGTCCCGG) c.1360_1375delinsACACAGGGAGTCCCGG (n.1360_1375delinsACACAGGGAGTCCCGG) c.1042_1057delinsACACAGGGAGTCCCGG (n.1042_1057delinsACACAGGGAGTCCCGG) c.1623_1638delinsACACAGGGAGTCCCGG (p.Arg541=) c.903_918delinsACACAGGGAGTCCCGG (n.903_918delinsACACAGGGAGTCCCGG) c.1731_1746delinsACACAGGGAGTCCCGG (p.Arg577=) c.1053_1068delinsACACAGGGAGTCCCGG (p.Arg351=) c.1638_1653delinsACACAGGGAGTCCCGG (p.Arg546=) c.1507_1522delinsACACAGGGAGTCCCGG (n.1507_1522delinsACACAGGGAGTCCCGG) c.315_330delinsACACAGGGAGTCCCGG (p.Arg105=) c.888_903delinsACACAGGGAGTCCCGG (p.Arg296=) c.1566_1581delinsACACAGGGAGTCCCGG (p.Arg522=) c.1689_1704delinsACACAGGGAGTCCCGG (p.Arg563=) c.963_978delinsACACAGGGAGTCCCGG (p.Arg321=) c.1569_1584delinsACACAGGGAGTCCCGG (p.Arg523=) n.2423+2510_2423+2525delinsCCGGGACTCCCTGTGT n.1928_1943delinsACACAGGGAGTCCCGG
10	g.18539545C>A	CA376072342	CACNB2,NSUN6	c.1660C>A (p.His554Asn) c.1525C>A (p.His509Asn) c.1648C>A (p.His550Asn) c.1720C>A (p.His574Asn) c.1804C>A (p.His602Asn) c.1642C>A (p.His548Asn) c.1429C>A (p.His477Asn) c.1606C>A (p.His536Asn) c.945C>A (n.945C>A) c.1546C>A (p.His516Asn) c.1078C>A (n.1078C>A) c.1361C>A (n.1361C>A) c.1043C>A (n.1043C>A) c.1624C>A (p.His542Asn) c.904C>A (n.904C>A) c.1732C>A (p.His578Asn) c.1054C>A (p.His352Asn) c.1639C>A (p.His547Asn) c.1508C>A (n.1508C>A) c.316C>A (p.His106Asn) c.889C>A (p.His297Asn) c.1567C>A (p.His523Asn) c.1690C>A (p.His564Asn) c.964C>A (p.His322Asn) c.1570C>A (p.His524Asn) n.2423+2524G>T n.1929C>A
10	g.18539545C=	CA1894173801	CACNB2,NSUN6	c.1660C= (p.His554=) c.1525C= (p.His509=) c.1648C= (p.His550=) c.1720C= (p.His574=) c.1804C= (p.His602=) c.1642C= (p.His548=) c.1429C= (p.His477=) c.1606C= (p.His536=) c.945C= (n.945C=) c.1546C= (p.His516=) c.1078C= (n.1078C=) c.1361C= (n.1361C=) c.1043C= (n.1043C=) c.1624C= (p.His542=) c.904C= (n.904C=) c.1732C= (p.His578=) c.1054C= (p.His352=) c.1639C= (p.His547=) c.1508C= (n.1508C=) c.316C= (p.His106=) c.889C= (p.His297=) c.1567C= (p.His523=) c.1690C= (p.His564=) c.964C= (p.His322=) c.1570C= (p.His524=) n.2423+2524G= n.1929C=
10	g.18539545C>G	CA5430173	CACNB2,NSUN6	c.1660C>G (p.His554Asp) c.1525C>G (p.His509Asp) c.1648C>G (p.His550Asp) c.1720C>G (p.His574Asp) c.1804C>G (p.His602Asp) c.1642C>G (p.His548Asp) c.1429C>G (p.His477Asp) c.1606C>G (p.His536Asp) c.945C>G (n.945C>G) c.1546C>G (p.His516Asp) c.1078C>G (n.1078C>G) c.1361C>G (n.1361C>G) c.1043C>G (n.1043C>G) c.1624C>G (p.His542Asp) c.904C>G (n.904C>G) c.1732C>G (p.His578Asp) c.1054C>G (p.His352Asp) c.1639C>G (p.His547Asp) c.1508C>G (n.1508C>G) c.316C>G (p.His106Asp) c.889C>G (p.His297Asp) c.1567C>G (p.His523Asp) c.1690C>G (p.His564Asp) c.964C>G (p.His322Asp) c.1570C>G (p.His524Asp) n.2423+2524G>C n.1929C>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539545C>T	CA203167334	CACNB2,NSUN6	c.1660C>T (p.His554Tyr) c.1525C>T (p.His509Tyr) c.1648C>T (p.His550Tyr) c.1720C>T (p.His574Tyr) c.1804C>T (p.His602Tyr) c.1642C>T (p.His548Tyr) c.1429C>T (p.His477Tyr) c.1606C>T (p.His536Tyr) c.945C>T (n.945C>T) c.1546C>T (p.His516Tyr) c.1078C>T (n.1078C>T) c.1361C>T (n.1361C>T) c.1043C>T (n.1043C>T) c.1624C>T (p.His542Tyr) c.904C>T (n.904C>T) c.1732C>T (p.His578Tyr) c.1054C>T (p.His352Tyr) c.1639C>T (p.His547Tyr) c.1508C>T (n.1508C>T) c.316C>T (p.His106Tyr) c.889C>T (p.His297Tyr) c.1567C>T (p.His523Tyr) c.1690C>T (p.His564Tyr) c.964C>T (p.His322Tyr) c.1570C>T (p.His524Tyr) n.2423+2524G>A n.1929C>T	dbSNP gnomAD v4
10	g.18539548_18539562del	CA5430172	CACNB2,NSUN6	c.1663_1677del (p.Arg555_His559del) c.1528_1542del (p.Arg510_His514del) c.1651_1665del (p.Arg551_His555del) c.1723_1737del (p.Arg575_His579del) c.1807_1821del (p.Arg603_His607del) c.1645_1659del (p.Arg549_His553del) c.1432_1446del (p.Arg478_His482del) c.1609_1623del (p.Arg537_His541del) c.948_962del (n.948_962del) c.1549_1563del (p.Arg517_His521del) c.1081_1095del (n.1081_1095del) c.1364_1378del (n.1364_1378del) c.1046_1060del (n.1046_1060del) c.1627_1641del (p.Arg543_His547del) c.907_921del (n.907_921del) c.1735_1749del (p.Arg579_His583del) c.1057_1071del (p.Arg353_His357del) c.1642_1656del (p.Arg548_His552del) c.1511_1525del (n.1511_1525del) c.319_333del (p.Arg107_His111del) c.892_906del (p.Arg298_His302del) c.1570_1584del (p.Arg524_His528del) c.1693_1707del (p.Arg565_His569del) c.967_981del (p.Arg323_His327del) c.1573_1587del (p.Arg525_His529del) n.2423+2510_2423+2524del n.1932_1946del	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539546A>C	CA376072348	CACNB2,NSUN6	c.1661A>C (p.His554Pro) c.1526A>C (p.His509Pro) c.1649A>C (p.His550Pro) c.1721A>C (p.His574Pro) c.1805A>C (p.His602Pro) c.1643A>C (p.His548Pro) c.1430A>C (p.His477Pro) c.1607A>C (p.His536Pro) c.946A>C (n.946A>C) c.1547A>C (p.His516Pro) c.1079A>C (n.1079A>C) c.1362A>C (n.1362A>C) c.1044A>C (n.1044A>C) c.1625A>C (p.His542Pro) c.905A>C (n.905A>C) c.1733A>C (p.His578Pro) c.1055A>C (p.His352Pro) c.1640A>C (p.His547Pro) c.1509A>C (n.1509A>C) c.317A>C (p.His106Pro) c.890A>C (p.His297Pro) c.1568A>C (p.His523Pro) c.1691A>C (p.His564Pro) c.965A>C (p.His322Pro) c.1571A>C (p.His524Pro) n.2423+2523T>G n.1930A>C
10	g.18539546A>G	CA376072350	CACNB2,NSUN6	c.1661A>G (p.His554Arg) c.1526A>G (p.His509Arg) c.1649A>G (p.His550Arg) c.1721A>G (p.His574Arg) c.1805A>G (p.His602Arg) c.1643A>G (p.His548Arg) c.1430A>G (p.His477Arg) c.1607A>G (p.His536Arg) c.946A>G (n.946A>G) c.1547A>G (p.His516Arg) c.1079A>G (n.1079A>G) c.1362A>G (n.1362A>G) c.1044A>G (n.1044A>G) c.1625A>G (p.His542Arg) c.905A>G (n.905A>G) c.1733A>G (p.His578Arg) c.1055A>G (p.His352Arg) c.1640A>G (p.His547Arg) c.1509A>G (n.1509A>G) c.317A>G (p.His106Arg) c.890A>G (p.His297Arg) c.1568A>G (p.His523Arg) c.1691A>G (p.His564Arg) c.965A>G (p.His322Arg) c.1571A>G (p.His524Arg) n.2423+2523T>C n.1930A>G
10	g.18539546A>T	CA376072360	CACNB2,NSUN6	c.1661A>T (p.His554Leu) c.1526A>T (p.His509Leu) c.1649A>T (p.His550Leu) c.1721A>T (p.His574Leu) c.1805A>T (p.His602Leu) c.1643A>T (p.His548Leu) c.1430A>T (p.His477Leu) c.1607A>T (p.His536Leu) c.946A>T (n.946A>T) c.1547A>T (p.His516Leu) c.1079A>T (n.1079A>T) c.1362A>T (n.1362A>T) c.1044A>T (n.1044A>T) c.1625A>T (p.His542Leu) c.905A>T (n.905A>T) c.1733A>T (p.His578Leu) c.1055A>T (p.His352Leu) c.1640A>T (p.His547Leu) c.1509A>T (n.1509A>T) c.317A>T (p.His106Leu) c.890A>T (p.His297Leu) c.1568A>T (p.His523Leu) c.1691A>T (p.His564Leu) c.965A>T (p.His322Leu) c.1571A>T (p.His524Leu) n.2423+2523T>A n.1930A>T
10	g.18539547C>A	CA376072362	CACNB2,NSUN6	c.1662C>A (p.His554Gln) c.1527C>A (p.His509Gln) c.1650C>A (p.His550Gln) c.1722C>A (p.His574Gln) c.1806C>A (p.His602Gln) c.1644C>A (p.His548Gln) c.1431C>A (p.His477Gln) c.1608C>A (p.His536Gln) c.947C>A (n.947C>A) c.1548C>A (p.His516Gln) c.1080C>A (n.1080C>A) c.1363C>A (n.1363C>A) c.1045C>A (n.1045C>A) c.1626C>A (p.His542Gln) c.906C>A (n.906C>A) c.1734C>A (p.His578Gln) c.1056C>A (p.His352Gln) c.1641C>A (p.His547Gln) c.1510C>A (n.1510C>A) c.318C>A (p.His106Gln) c.891C>A (p.His297Gln) c.1569C>A (p.His523Gln) c.1692C>A (p.His564Gln) c.966C>A (p.His322Gln) c.1572C>A (p.His524Gln) n.2423+2522G>T n.1931C>A
10	g.18539547C=	CA1894173805	CACNB2,NSUN6	c.1662C= (p.His554=) c.1527C= (p.His509=) c.1650C= (p.His550=) c.1722C= (p.His574=) c.1806C= (p.His602=) c.1644C= (p.His548=) c.1431C= (p.His477=) c.1608C= (p.His536=) c.947C= (n.947C=) c.1548C= (p.His516=) c.1080C= (n.1080C=) c.1363C= (n.1363C=) c.1045C= (n.1045C=) c.1626C= (p.His542=) c.906C= (n.906C=) c.1734C= (p.His578=) c.1056C= (p.His352=) c.1641C= (p.His547=) c.1510C= (n.1510C=) c.318C= (p.His106=) c.891C= (p.His297=) c.1569C= (p.His523=) c.1692C= (p.His564=) c.966C= (p.His322=) c.1572C= (p.His524=) n.2423+2522G= n.1931C=
10	g.18539547C>G	CA376072364	CACNB2,NSUN6	c.1662C>G (p.His554Gln) c.1527C>G (p.His509Gln) c.1650C>G (p.His550Gln) c.1722C>G (p.His574Gln) c.1806C>G (p.His602Gln) c.1644C>G (p.His548Gln) c.1431C>G (p.His477Gln) c.1608C>G (p.His536Gln) c.947C>G (n.947C>G) c.1548C>G (p.His516Gln) c.1080C>G (n.1080C>G) c.1363C>G (n.1363C>G) c.1045C>G (n.1045C>G) c.1626C>G (p.His542Gln) c.906C>G (n.906C>G) c.1734C>G (p.His578Gln) c.1056C>G (p.His352Gln) c.1641C>G (p.His547Gln) c.1510C>G (n.1510C>G) c.318C>G (p.His106Gln) c.891C>G (p.His297Gln) c.1569C>G (p.His523Gln) c.1692C>G (p.His564Gln) c.966C>G (p.His322Gln) c.1572C>G (p.His524Gln) n.2423+2522G>C n.1931C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539547C>T	CA468649571	CACNB2,NSUN6	c.1662C>T (p.His554=) c.1527C>T (p.His509=) c.1650C>T (p.His550=) c.1722C>T (p.His574=) c.1806C>T (p.His602=) c.1644C>T (p.His548=) c.1431C>T (p.His477=) c.1608C>T (p.His536=) c.947C>T (n.947C>T) c.1548C>T (p.His516=) c.1080C>T (n.1080C>T) c.1363C>T (n.1363C>T) c.1045C>T (n.1045C>T) c.1626C>T (p.His542=) c.906C>T (n.906C>T) c.1734C>T (p.His578=) c.1056C>T (p.His352=) c.1641C>T (p.His547=) c.1510C>T (n.1510C>T) c.318C>T (p.His106=) c.891C>T (p.His297=) c.1569C>T (p.His523=) c.1692C>T (p.His564=) c.966C>T (p.His322=) c.1572C>T (p.His524=) n.2423+2522G>A n.1931C>T	ClinVar dbSNP gnomAD v4
10	g.18539548A>C	CA468649572	CACNB2,NSUN6	c.1663A>C (p.Arg555=) c.1528A>C (p.Arg510=) c.1651A>C (p.Arg551=) c.1723A>C (p.Arg575=) c.1807A>C (p.Arg603=) c.1645A>C (p.Arg549=) c.1432A>C (p.Arg478=) c.1609A>C (p.Arg537=) c.948A>C (n.948A>C) c.1549A>C (p.Arg517=) c.1081A>C (n.1081A>C) c.1364A>C (n.1364A>C) c.1046A>C (n.1046A>C) c.1627A>C (p.Arg543=) c.907A>C (n.907A>C) c.1735A>C (p.Arg579=) c.1057A>C (p.Arg353=) c.1642A>C (p.Arg548=) c.1511A>C (n.1511A>C) c.319A>C (p.Arg107=) c.892A>C (p.Arg298=) c.1570A>C (p.Arg524=) c.1693A>C (p.Arg565=) c.967A>C (p.Arg323=) c.1573A>C (p.Arg525=) n.2423+2521T>G n.1932A>C
10	g.18539548A>G	CA376072366	CACNB2,NSUN6	c.1663A>G (p.Arg555Gly) c.1528A>G (p.Arg510Gly) c.1651A>G (p.Arg551Gly) c.1723A>G (p.Arg575Gly) c.1807A>G (p.Arg603Gly) c.1645A>G (p.Arg549Gly) c.1432A>G (p.Arg478Gly) c.1609A>G (p.Arg537Gly) c.948A>G (n.948A>G) c.1549A>G (p.Arg517Gly) c.1081A>G (n.1081A>G) c.1364A>G (n.1364A>G) c.1046A>G (n.1046A>G) c.1627A>G (p.Arg543Gly) c.907A>G (n.907A>G) c.1735A>G (p.Arg579Gly) c.1057A>G (p.Arg353Gly) c.1642A>G (p.Arg548Gly) c.1511A>G (n.1511A>G) c.319A>G (p.Arg107Gly) c.892A>G (p.Arg298Gly) c.1570A>G (p.Arg524Gly) c.1693A>G (p.Arg565Gly) c.967A>G (p.Arg323Gly) c.1573A>G (p.Arg525Gly) n.2423+2521T>C n.1932A>G	gnomAD v4
10	g.18539548A>T	CA376072369	CACNB2,NSUN6	c.1663A>T (p.Arg555Trp) c.1528A>T (p.Arg510Trp) c.1651A>T (p.Arg551Trp) c.1723A>T (p.Arg575Trp) c.1807A>T (p.Arg603Trp) c.1645A>T (p.Arg549Trp) c.1432A>T (p.Arg478Trp) c.1609A>T (p.Arg537Trp) c.948A>T (n.948A>T) c.1549A>T (p.Arg517Trp) c.1081A>T (n.1081A>T) c.1364A>T (n.1364A>T) c.1046A>T (n.1046A>T) c.1627A>T (p.Arg543Trp) c.907A>T (n.907A>T) c.1735A>T (p.Arg579Trp) c.1057A>T (p.Arg353Trp) c.1642A>T (p.Arg548Trp) c.1511A>T (n.1511A>T) c.319A>T (p.Arg107Trp) c.892A>T (p.Arg298Trp) c.1570A>T (p.Arg524Trp) c.1693A>T (p.Arg565Trp) c.967A>T (p.Arg323Trp) c.1573A>T (p.Arg525Trp) n.2423+2521T>A n.1932A>T
10	g.18539549G>A	CA376072372	CACNB2,NSUN6	c.1664G>A (p.Arg555Lys) c.1529G>A (p.Arg510Lys) c.1652G>A (p.Arg551Lys) c.1724G>A (p.Arg575Lys) c.1808G>A (p.Arg603Lys) c.1646G>A (p.Arg549Lys) c.1433G>A (p.Arg478Lys) c.1610G>A (p.Arg537Lys) c.949G>A (n.949G>A) c.1550G>A (p.Arg517Lys) c.1082G>A (n.1082G>A) c.1365G>A (n.1365G>A) c.1047G>A (n.1047G>A) c.1628G>A (p.Arg543Lys) c.908G>A (n.908G>A) c.1736G>A (p.Arg579Lys) c.1058G>A (p.Arg353Lys) c.1643G>A (p.Arg548Lys) c.1512G>A (n.1512G>A) c.320G>A (p.Arg107Lys) c.893G>A (p.Arg298Lys) c.1571G>A (p.Arg524Lys) c.1694G>A (p.Arg565Lys) c.968G>A (p.Arg323Lys) c.1574G>A (p.Arg525Lys) n.2423+2520C>T n.1933G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539549G>C	CA376072375	CACNB2,NSUN6	c.1664G>C (p.Arg555Thr) c.1529G>C (p.Arg510Thr) c.1652G>C (p.Arg551Thr) c.1724G>C (p.Arg575Thr) c.1808G>C (p.Arg603Thr) c.1646G>C (p.Arg549Thr) c.1433G>C (p.Arg478Thr) c.1610G>C (p.Arg537Thr) c.949G>C (n.949G>C) c.1550G>C (p.Arg517Thr) c.1082G>C (n.1082G>C) c.1365G>C (n.1365G>C) c.1047G>C (n.1047G>C) c.1628G>C (p.Arg543Thr) c.908G>C (n.908G>C) c.1736G>C (p.Arg579Thr) c.1058G>C (p.Arg353Thr) c.1643G>C (p.Arg548Thr) c.1512G>C (n.1512G>C) c.320G>C (p.Arg107Thr) c.893G>C (p.Arg298Thr) c.1571G>C (p.Arg524Thr) c.1694G>C (p.Arg565Thr) c.968G>C (p.Arg323Thr) c.1574G>C (p.Arg525Thr) n.2423+2520C>G n.1933G>C
10	g.18539549G=	CA1894173808	CACNB2,NSUN6	c.1664G= (p.Arg555=) c.1529G= (p.Arg510=) c.1652G= (p.Arg551=) c.1724G= (p.Arg575=) c.1808G= (p.Arg603=) c.1646G= (p.Arg549=) c.1433G= (p.Arg478=) c.1610G= (p.Arg537=) c.949G= (n.949G=) c.1550G= (p.Arg517=) c.1082G= (n.1082G=) c.1365G= (n.1365G=) c.1047G= (n.1047G=) c.1628G= (p.Arg543=) c.908G= (n.908G=) c.1736G= (p.Arg579=) c.1058G= (p.Arg353=) c.1643G= (p.Arg548=) c.1512G= (n.1512G=) c.320G= (p.Arg107=) c.893G= (p.Arg298=) c.1571G= (p.Arg524=) c.1694G= (p.Arg565=) c.968G= (p.Arg323=) c.1574G= (p.Arg525=) n.2423+2520C= n.1933G=
10	g.18539549G>T	CA376072376	CACNB2,NSUN6	c.1664G>T (p.Arg555Met) c.1529G>T (p.Arg510Met) c.1652G>T (p.Arg551Met) c.1724G>T (p.Arg575Met) c.1808G>T (p.Arg603Met) c.1646G>T (p.Arg549Met) c.1433G>T (p.Arg478Met) c.1610G>T (p.Arg537Met) c.949G>T (n.949G>T) c.1550G>T (p.Arg517Met) c.1082G>T (n.1082G>T) c.1365G>T (n.1365G>T) c.1047G>T (n.1047G>T) c.1628G>T (p.Arg543Met) c.908G>T (n.908G>T) c.1736G>T (p.Arg579Met) c.1058G>T (p.Arg353Met) c.1643G>T (p.Arg548Met) c.1512G>T (n.1512G>T) c.320G>T (p.Arg107Met) c.893G>T (p.Arg298Met) c.1571G>T (p.Arg524Met) c.1694G>T (p.Arg565Met) c.968G>T (p.Arg323Met) c.1574G>T (p.Arg525Met) n.2423+2520C>A n.1933G>T
10	g.18539550G>A	CA468649574	CACNB2,NSUN6	c.1665G>A (p.Arg555=) c.1530G>A (p.Arg510=) c.1653G>A (p.Arg551=) c.1725G>A (p.Arg575=) c.1809G>A (p.Arg603=) c.1647G>A (p.Arg549=) c.1434G>A (p.Arg478=) c.1611G>A (p.Arg537=) c.950G>A (n.950G>A) c.1551G>A (p.Arg517=) c.1083G>A (n.1083G>A) c.1366G>A (n.1366G>A) c.1048G>A (n.1048G>A) c.1629G>A (p.Arg543=) c.909G>A (n.909G>A) c.1737G>A (p.Arg579=) c.1059G>A (p.Arg353=) c.1644G>A (p.Arg548=) c.1513G>A (n.1513G>A) c.321G>A (p.Arg107=) c.894G>A (p.Arg298=) c.1572G>A (p.Arg524=) c.1695G>A (p.Arg565=) c.969G>A (p.Arg323=) c.1575G>A (p.Arg525=) n.2423+2519C>T n.1934G>A
10	g.18539550G>C	CA376072379	CACNB2,NSUN6	c.1665G>C (p.Arg555Ser) c.1530G>C (p.Arg510Ser) c.1653G>C (p.Arg551Ser) c.1725G>C (p.Arg575Ser) c.1809G>C (p.Arg603Ser) c.1647G>C (p.Arg549Ser) c.1434G>C (p.Arg478Ser) c.1611G>C (p.Arg537Ser) c.950G>C (n.950G>C) c.1551G>C (p.Arg517Ser) c.1083G>C (n.1083G>C) c.1366G>C (n.1366G>C) c.1048G>C (n.1048G>C) c.1629G>C (p.Arg543Ser) c.909G>C (n.909G>C) c.1737G>C (p.Arg579Ser) c.1059G>C (p.Arg353Ser) c.1644G>C (p.Arg548Ser) c.1513G>C (n.1513G>C) c.321G>C (p.Arg107Ser) c.894G>C (p.Arg298Ser) c.1572G>C (p.Arg524Ser) c.1695G>C (p.Arg565Ser) c.969G>C (p.Arg323Ser) c.1575G>C (p.Arg525Ser) n.2423+2519C>G n.1934G>C	dbSNP gnomAD v2 gnomAD v4
10	g.18539550G=	CA1894173812	CACNB2,NSUN6	c.1665G= (p.Arg555=) c.1530G= (p.Arg510=) c.1653G= (p.Arg551=) c.1725G= (p.Arg575=) c.1809G= (p.Arg603=) c.1647G= (p.Arg549=) c.1434G= (p.Arg478=) c.1611G= (p.Arg537=) c.950G= (n.950G=) c.1551G= (p.Arg517=) c.1083G= (n.1083G=) c.1366G= (n.1366G=) c.1048G= (n.1048G=) c.1629G= (p.Arg543=) c.909G= (n.909G=) c.1737G= (p.Arg579=) c.1059G= (p.Arg353=) c.1644G= (p.Arg548=) c.1513G= (n.1513G=) c.321G= (p.Arg107=) c.894G= (p.Arg298=) c.1572G= (p.Arg524=) c.1695G= (p.Arg565=) c.969G= (p.Arg323=) c.1575G= (p.Arg525=) n.2423+2519C= n.1934G=
10	g.18539550G>T	CA376072381	CACNB2,NSUN6	c.1665G>T (p.Arg555Ser) c.1530G>T (p.Arg510Ser) c.1653G>T (p.Arg551Ser) c.1725G>T (p.Arg575Ser) c.1809G>T (p.Arg603Ser) c.1647G>T (p.Arg549Ser) c.1434G>T (p.Arg478Ser) c.1611G>T (p.Arg537Ser) c.950G>T (n.950G>T) c.1551G>T (p.Arg517Ser) c.1083G>T (n.1083G>T) c.1366G>T (n.1366G>T) c.1048G>T (n.1048G>T) c.1629G>T (p.Arg543Ser) c.909G>T (n.909G>T) c.1737G>T (p.Arg579Ser) c.1059G>T (p.Arg353Ser) c.1644G>T (p.Arg548Ser) c.1513G>T (n.1513G>T) c.321G>T (p.Arg107Ser) c.894G>T (p.Arg298Ser) c.1572G>T (p.Arg524Ser) c.1695G>T (p.Arg565Ser) c.969G>T (p.Arg323Ser) c.1575G>T (p.Arg525Ser) n.2423+2519C>A n.1934G>T
10	g.18539551G>A	CA376072383	CACNB2,NSUN6	c.1666G>A (p.Glu556Lys) c.1531G>A (p.Glu511Lys) c.1654G>A (p.Glu552Lys) c.1726G>A (p.Glu576Lys) c.1810G>A (p.Glu604Lys) c.1648G>A (p.Glu550Lys) c.1435G>A (p.Glu479Lys) c.1612G>A (p.Glu538Lys) c.951G>A (n.951G>A) c.1552G>A (p.Glu518Lys) c.1084G>A (n.1084G>A) c.1367G>A (n.1367G>A) c.1049G>A (n.1049G>A) c.1630G>A (p.Glu544Lys) c.910G>A (n.910G>A) c.1738G>A (p.Glu580Lys) c.1060G>A (p.Glu354Lys) c.1645G>A (p.Glu549Lys) c.1514G>A (n.1514G>A) c.322G>A (p.Glu108Lys) c.895G>A (p.Glu299Lys) c.1573G>A (p.Glu525Lys) c.1696G>A (p.Glu566Lys) c.970G>A (p.Glu324Lys) c.1576G>A (p.Glu526Lys) n.2423+2518C>T n.1935G>A
10	g.18539551G>C	CA376072385	CACNB2,NSUN6	c.1666G>C (p.Glu556Gln) c.1531G>C (p.Glu511Gln) c.1654G>C (p.Glu552Gln) c.1726G>C (p.Glu576Gln) c.1810G>C (p.Glu604Gln) c.1648G>C (p.Glu550Gln) c.1435G>C (p.Glu479Gln) c.1612G>C (p.Glu538Gln) c.951G>C (n.951G>C) c.1552G>C (p.Glu518Gln) c.1084G>C (n.1084G>C) c.1367G>C (n.1367G>C) c.1049G>C (n.1049G>C) c.1630G>C (p.Glu544Gln) c.910G>C (n.910G>C) c.1738G>C (p.Glu580Gln) c.1060G>C (p.Glu354Gln) c.1645G>C (p.Glu549Gln) c.1514G>C (n.1514G>C) c.322G>C (p.Glu108Gln) c.895G>C (p.Glu299Gln) c.1573G>C (p.Glu525Gln) c.1696G>C (p.Glu566Gln) c.970G>C (p.Glu324Gln) c.1576G>C (p.Glu526Gln) n.2423+2518C>G n.1935G>C
10	g.18539551G=	CA1894173814	CACNB2,NSUN6	c.1666G= (p.Glu556=) c.1531G= (p.Glu511=) c.1654G= (p.Glu552=) c.1726G= (p.Glu576=) c.1810G= (p.Glu604=) c.1648G= (p.Glu550=) c.1435G= (p.Glu479=) c.1612G= (p.Glu538=) c.951G= (n.951G=) c.1552G= (p.Glu518=) c.1084G= (n.1084G=) c.1367G= (n.1367G=) c.1049G= (n.1049G=) c.1630G= (p.Glu544=) c.910G= (n.910G=) c.1738G= (p.Glu580=) c.1060G= (p.Glu354=) c.1645G= (p.Glu549=) c.1514G= (n.1514G=) c.322G= (p.Glu108=) c.895G= (p.Glu299=) c.1573G= (p.Glu525=) c.1696G= (p.Glu566=) c.970G= (p.Glu324=) c.1576G= (p.Glu526=) n.2423+2518C= n.1935G=
10	g.18539551G>T	CA376072389	CACNB2,NSUN6	c.1666G>T (p.Glu556Ter) c.1531G>T (p.Glu511Ter) c.1654G>T (p.Glu552Ter) c.1726G>T (p.Glu576Ter) c.1810G>T (p.Glu604Ter) c.1648G>T (p.Glu550Ter) c.1435G>T (p.Glu479Ter) c.1612G>T (p.Glu538Ter) c.951G>T (n.951G>T) c.1552G>T (p.Glu518Ter) c.1084G>T (n.1084G>T) c.1367G>T (n.1367G>T) c.1049G>T (n.1049G>T) c.1630G>T (p.Glu544Ter) c.910G>T (n.910G>T) c.1738G>T (p.Glu580Ter) c.1060G>T (p.Glu354Ter) c.1645G>T (p.Glu549Ter) c.1514G>T (n.1514G>T) c.322G>T (p.Glu108Ter) c.895G>T (p.Glu299Ter) c.1573G>T (p.Glu525Ter) c.1696G>T (p.Glu566Ter) c.970G>T (p.Glu324Ter) c.1576G>T (p.Glu526Ter) n.2423+2518C>A n.1935G>T	dbSNP
10	g.18539552A>C	CA376072393	CACNB2,NSUN6	c.1667A>C (p.Glu556Ala) c.1532A>C (p.Glu511Ala) c.1655A>C (p.Glu552Ala) c.1727A>C (p.Glu576Ala) c.1811A>C (p.Glu604Ala) c.1649A>C (p.Glu550Ala) c.1436A>C (p.Glu479Ala) c.1613A>C (p.Glu538Ala) c.952A>C (n.952A>C) c.1553A>C (p.Glu518Ala) c.1085A>C (n.1085A>C) c.1368A>C (n.1368A>C) c.1050A>C (n.1050A>C) c.1631A>C (p.Glu544Ala) c.911A>C (n.911A>C) c.1739A>C (p.Glu580Ala) c.1061A>C (p.Glu354Ala) c.1646A>C (p.Glu549Ala) c.1515A>C (n.1515A>C) c.323A>C (p.Glu108Ala) c.896A>C (p.Glu299Ala) c.1574A>C (p.Glu525Ala) c.1697A>C (p.Glu566Ala) c.971A>C (p.Glu324Ala) c.1577A>C (p.Glu526Ala) n.2423+2517T>G n.1936A>C
10	g.18539552A>G	CA376072396	CACNB2,NSUN6	c.1667A>G (p.Glu556Gly) c.1532A>G (p.Glu511Gly) c.1655A>G (p.Glu552Gly) c.1727A>G (p.Glu576Gly) c.1811A>G (p.Glu604Gly) c.1649A>G (p.Glu550Gly) c.1436A>G (p.Glu479Gly) c.1613A>G (p.Glu538Gly) c.952A>G (n.952A>G) c.1553A>G (p.Glu518Gly) c.1085A>G (n.1085A>G) c.1368A>G (n.1368A>G) c.1050A>G (n.1050A>G) c.1631A>G (p.Glu544Gly) c.911A>G (n.911A>G) c.1739A>G (p.Glu580Gly) c.1061A>G (p.Glu354Gly) c.1646A>G (p.Glu549Gly) c.1515A>G (n.1515A>G) c.323A>G (p.Glu108Gly) c.896A>G (p.Glu299Gly) c.1574A>G (p.Glu525Gly) c.1697A>G (p.Glu566Gly) c.971A>G (p.Glu324Gly) c.1577A>G (p.Glu526Gly) n.2423+2517T>C n.1936A>G
10	g.18539552A>T	CA376072398	CACNB2,NSUN6	c.1667A>T (p.Glu556Val) c.1532A>T (p.Glu511Val) c.1655A>T (p.Glu552Val) c.1727A>T (p.Glu576Val) c.1811A>T (p.Glu604Val) c.1649A>T (p.Glu550Val) c.1436A>T (p.Glu479Val) c.1613A>T (p.Glu538Val) c.952A>T (n.952A>T) c.1553A>T (p.Glu518Val) c.1085A>T (n.1085A>T) c.1368A>T (n.1368A>T) c.1050A>T (n.1050A>T) c.1631A>T (p.Glu544Val) c.911A>T (n.911A>T) c.1739A>T (p.Glu580Val) c.1061A>T (p.Glu354Val) c.1646A>T (p.Glu549Val) c.1515A>T (n.1515A>T) c.323A>T (p.Glu108Val) c.896A>T (p.Glu299Val) c.1574A>T (p.Glu525Val) c.1697A>T (p.Glu566Val) c.971A>T (p.Glu324Val) c.1577A>T (p.Glu526Val) n.2423+2517T>A n.1936A>T
10	g.18539553G>A	CA5430174	CACNB2,NSUN6	c.1668G>A (p.Glu556=) c.1533G>A (p.Glu511=) c.1656G>A (p.Glu552=) c.1728G>A (p.Glu576=) c.1812G>A (p.Glu604=) c.1650G>A (p.Glu550=) c.1437G>A (p.Glu479=) c.1614G>A (p.Glu538=) c.953G>A (n.953G>A) c.1554G>A (p.Glu518=) c.1086G>A (n.1086G>A) c.1369G>A (n.1369G>A) c.1051G>A (n.1051G>A) c.1632G>A (p.Glu544=) c.912G>A (n.912G>A) c.1740G>A (p.Glu580=) c.1062G>A (p.Glu354=) c.1647G>A (p.Glu549=) c.1516G>A (n.1516G>A) c.324G>A (p.Glu108=) c.897G>A (p.Glu299=) c.1575G>A (p.Glu525=) c.1698G>A (p.Glu566=) c.972G>A (p.Glu324=) c.1578G>A (p.Glu526=) n.2423+2516C>T n.1937G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539553G>C	CA376072400	CACNB2,NSUN6	c.1668G>C (p.Glu556Asp) c.1533G>C (p.Glu511Asp) c.1656G>C (p.Glu552Asp) c.1728G>C (p.Glu576Asp) c.1812G>C (p.Glu604Asp) c.1650G>C (p.Glu550Asp) c.1437G>C (p.Glu479Asp) c.1614G>C (p.Glu538Asp) c.953G>C (n.953G>C) c.1554G>C (p.Glu518Asp) c.1086G>C (n.1086G>C) c.1369G>C (n.1369G>C) c.1051G>C (n.1051G>C) c.1632G>C (p.Glu544Asp) c.912G>C (n.912G>C) c.1740G>C (p.Glu580Asp) c.1062G>C (p.Glu354Asp) c.1647G>C (p.Glu549Asp) c.1516G>C (n.1516G>C) c.324G>C (p.Glu108Asp) c.897G>C (p.Glu299Asp) c.1575G>C (p.Glu525Asp) c.1698G>C (p.Glu566Asp) c.972G>C (p.Glu324Asp) c.1578G>C (p.Glu526Asp) n.2423+2516C>G n.1937G>C
10	g.18539553G=	CA1894173816	CACNB2,NSUN6	c.1668G= (p.Glu556=) c.1533G= (p.Glu511=) c.1656G= (p.Glu552=) c.1728G= (p.Glu576=) c.1812G= (p.Glu604=) c.1650G= (p.Glu550=) c.1437G= (p.Glu479=) c.1614G= (p.Glu538=) c.953G= (n.953G=) c.1554G= (p.Glu518=) c.1086G= (n.1086G=) c.1369G= (n.1369G=) c.1051G= (n.1051G=) c.1632G= (p.Glu544=) c.912G= (n.912G=) c.1740G= (p.Glu580=) c.1062G= (p.Glu354=) c.1647G= (p.Glu549=) c.1516G= (n.1516G=) c.324G= (p.Glu108=) c.897G= (p.Glu299=) c.1575G= (p.Glu525=) c.1698G= (p.Glu566=) c.972G= (p.Glu324=) c.1578G= (p.Glu526=) n.2423+2516C= n.1937G=
10	g.18539553G>T	CA376072402	CACNB2,NSUN6	c.1668G>T (p.Glu556Asp) c.1533G>T (p.Glu511Asp) c.1656G>T (p.Glu552Asp) c.1728G>T (p.Glu576Asp) c.1812G>T (p.Glu604Asp) c.1650G>T (p.Glu550Asp) c.1437G>T (p.Glu479Asp) c.1614G>T (p.Glu538Asp) c.953G>T (n.953G>T) c.1554G>T (p.Glu518Asp) c.1086G>T (n.1086G>T) c.1369G>T (n.1369G>T) c.1051G>T (n.1051G>T) c.1632G>T (p.Glu544Asp) c.912G>T (n.912G>T) c.1740G>T (p.Glu580Asp) c.1062G>T (p.Glu354Asp) c.1647G>T (p.Glu549Asp) c.1516G>T (n.1516G>T) c.324G>T (p.Glu108Asp) c.897G>T (p.Glu299Asp) c.1575G>T (p.Glu525Asp) c.1698G>T (p.Glu566Asp) c.972G>T (p.Glu324Asp) c.1578G>T (p.Glu526Asp) n.2423+2516C>A n.1937G>T
10	g.18539554T>A	CA376072404	CACNB2,NSUN6	c.1669T>A (p.Ser557Thr) c.1534T>A (p.Ser512Thr) c.1657T>A (p.Ser553Thr) c.1729T>A (p.Ser577Thr) c.1813T>A (p.Ser605Thr) c.1651T>A (p.Ser551Thr) c.1438T>A (p.Ser480Thr) c.1615T>A (p.Ser539Thr) c.954T>A (n.954T>A) c.1555T>A (p.Ser519Thr) c.1087T>A (n.1087T>A) c.1370T>A (n.1370T>A) c.1052T>A (n.1052T>A) c.1633T>A (p.Ser545Thr) c.913T>A (n.913T>A) c.1741T>A (p.Ser581Thr) c.1063T>A (p.Ser355Thr) c.1648T>A (p.Ser550Thr) c.1517T>A (n.1517T>A) c.325T>A (p.Ser109Thr) c.898T>A (p.Ser300Thr) c.1576T>A (p.Ser526Thr) c.1699T>A (p.Ser567Thr) c.973T>A (p.Ser325Thr) c.1579T>A (p.Ser527Thr) n.2423+2515A>T n.1938T>A	gnomAD v3 gnomAD v4
10	g.18539554T>C	CA376072405	CACNB2,NSUN6	c.1669T>C (p.Ser557Pro) c.1534T>C (p.Ser512Pro) c.1657T>C (p.Ser553Pro) c.1729T>C (p.Ser577Pro) c.1813T>C (p.Ser605Pro) c.1651T>C (p.Ser551Pro) c.1438T>C (p.Ser480Pro) c.1615T>C (p.Ser539Pro) c.954T>C (n.954T>C) c.1555T>C (p.Ser519Pro) c.1087T>C (n.1087T>C) c.1370T>C (n.1370T>C) c.1052T>C (n.1052T>C) c.1633T>C (p.Ser545Pro) c.913T>C (n.913T>C) c.1741T>C (p.Ser581Pro) c.1063T>C (p.Ser355Pro) c.1648T>C (p.Ser550Pro) c.1517T>C (n.1517T>C) c.325T>C (p.Ser109Pro) c.898T>C (p.Ser300Pro) c.1576T>C (p.Ser526Pro) c.1699T>C (p.Ser567Pro) c.973T>C (p.Ser325Pro) c.1579T>C (p.Ser527Pro) n.2423+2515A>G n.1938T>C
10	g.18539554T>G	CA376072407	CACNB2,NSUN6	c.1669T>G (p.Ser557Ala) c.1534T>G (p.Ser512Ala) c.1657T>G (p.Ser553Ala) c.1729T>G (p.Ser577Ala) c.1813T>G (p.Ser605Ala) c.1651T>G (p.Ser551Ala) c.1438T>G (p.Ser480Ala) c.1615T>G (p.Ser539Ala) c.954T>G (n.954T>G) c.1555T>G (p.Ser519Ala) c.1087T>G (n.1087T>G) c.1370T>G (n.1370T>G) c.1052T>G (n.1052T>G) c.1633T>G (p.Ser545Ala) c.913T>G (n.913T>G) c.1741T>G (p.Ser581Ala) c.1063T>G (p.Ser355Ala) c.1648T>G (p.Ser550Ala) c.1517T>G (n.1517T>G) c.325T>G (p.Ser109Ala) c.898T>G (p.Ser300Ala) c.1576T>G (p.Ser526Ala) c.1699T>G (p.Ser567Ala) c.973T>G (p.Ser325Ala) c.1579T>G (p.Ser527Ala) n.2423+2515A>C n.1938T>G
10	g.18539555C>A	CA376072412	CACNB2,NSUN6	c.1670C>A (p.Ser557Tyr) c.1535C>A (p.Ser512Tyr) c.1658C>A (p.Ser553Tyr) c.1730C>A (p.Ser577Tyr) c.1814C>A (p.Ser605Tyr) c.1652C>A (p.Ser551Tyr) c.1439C>A (p.Ser480Tyr) c.1616C>A (p.Ser539Tyr) c.955C>A (n.955C>A) c.1556C>A (p.Ser519Tyr) c.1088C>A (n.1088C>A) c.1371C>A (n.1371C>A) c.1053C>A (n.1053C>A) c.1634C>A (p.Ser545Tyr) c.914C>A (n.914C>A) c.1742C>A (p.Ser581Tyr) c.1064C>A (p.Ser355Tyr) c.1649C>A (p.Ser550Tyr) c.1518C>A (n.1518C>A) c.326C>A (p.Ser109Tyr) c.899C>A (p.Ser300Tyr) c.1577C>A (p.Ser526Tyr) c.1700C>A (p.Ser567Tyr) c.974C>A (p.Ser325Tyr) c.1580C>A (p.Ser527Tyr) n.2423+2514G>T n.1939C>A
10	g.18539555C=	CA1894173820	CACNB2,NSUN6	c.1670C= (p.Ser557=) c.1535C= (p.Ser512=) c.1658C= (p.Ser553=) c.1730C= (p.Ser577=) c.1814C= (p.Ser605=) c.1652C= (p.Ser551=) c.1439C= (p.Ser480=) c.1616C= (p.Ser539=) c.955C= (n.955C=) c.1556C= (p.Ser519=) c.1088C= (n.1088C=) c.1371C= (n.1371C=) c.1053C= (n.1053C=) c.1634C= (p.Ser545=) c.914C= (n.914C=) c.1742C= (p.Ser581=) c.1064C= (p.Ser355=) c.1649C= (p.Ser550=) c.1518C= (n.1518C=) c.326C= (p.Ser109=) c.899C= (p.Ser300=) c.1577C= (p.Ser526=) c.1700C= (p.Ser567=) c.974C= (p.Ser325=) c.1580C= (p.Ser527=) n.2423+2514G= n.1939C=
10	g.18539555C>G	CA5430175	CACNB2,NSUN6	c.1670C>G (p.Ser557Cys) c.1535C>G (p.Ser512Cys) c.1658C>G (p.Ser553Cys) c.1730C>G (p.Ser577Cys) c.1814C>G (p.Ser605Cys) c.1652C>G (p.Ser551Cys) c.1439C>G (p.Ser480Cys) c.1616C>G (p.Ser539Cys) c.955C>G (n.955C>G) c.1556C>G (p.Ser519Cys) c.1088C>G (n.1088C>G) c.1371C>G (n.1371C>G) c.1053C>G (n.1053C>G) c.1634C>G (p.Ser545Cys) c.914C>G (n.914C>G) c.1742C>G (p.Ser581Cys) c.1064C>G (p.Ser355Cys) c.1649C>G (p.Ser550Cys) c.1518C>G (n.1518C>G) c.326C>G (p.Ser109Cys) c.899C>G (p.Ser300Cys) c.1577C>G (p.Ser526Cys) c.1700C>G (p.Ser567Cys) c.974C>G (p.Ser325Cys) c.1580C>G (p.Ser527Cys) n.2423+2514G>C n.1939C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539555C>T	CA5430176	CACNB2,NSUN6	c.1670C>T (p.Ser557Phe) c.1535C>T (p.Ser512Phe) c.1658C>T (p.Ser553Phe) c.1730C>T (p.Ser577Phe) c.1814C>T (p.Ser605Phe) c.1652C>T (p.Ser551Phe) c.1439C>T (p.Ser480Phe) c.1616C>T (p.Ser539Phe) c.955C>T (n.955C>T) c.1556C>T (p.Ser519Phe) c.1088C>T (n.1088C>T) c.1371C>T (n.1371C>T) c.1053C>T (n.1053C>T) c.1634C>T (p.Ser545Phe) c.914C>T (n.914C>T) c.1742C>T (p.Ser581Phe) c.1064C>T (p.Ser355Phe) c.1649C>T (p.Ser550Phe) c.1518C>T (n.1518C>T) c.326C>T (p.Ser109Phe) c.899C>T (p.Ser300Phe) c.1577C>T (p.Ser526Phe) c.1700C>T (p.Ser567Phe) c.974C>T (p.Ser325Phe) c.1580C>T (p.Ser527Phe) n.2423+2514G>A n.1939C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539555_18539561delinsCCCGGCA	CA1894173821	CACNB2,NSUN6	c.1670_1676delinsCCCGGCA (p.Ser557=) c.1535_1541delinsCCCGGCA (p.Ser512=) c.1658_1664delinsCCCGGCA (p.Ser553=) c.1730_1736delinsCCCGGCA (p.Ser577=) c.1814_1820delinsCCCGGCA (p.Ser605=) c.1652_1658delinsCCCGGCA (p.Ser551=) c.1439_1445delinsCCCGGCA (p.Ser480=) c.1616_1622delinsCCCGGCA (p.Ser539=) c.955_961delinsCCCGGCA (n.955_961delinsCCCGGCA) c.1556_1562delinsCCCGGCA (p.Ser519=) c.1088_1094delinsCCCGGCA (n.1088_1094delinsCCCGGCA) c.1371_1377delinsCCCGGCA (n.1371_1377delinsCCCGGCA) c.1053_1059delinsCCCGGCA (n.1053_1059delinsCCCGGCA) c.1634_1640delinsCCCGGCA (p.Ser545=) c.914_920delinsCCCGGCA (n.914_920delinsCCCGGCA) c.1742_1748delinsCCCGGCA (p.Ser581=) c.1064_1070delinsCCCGGCA (p.Ser355=) c.1649_1655delinsCCCGGCA (p.Ser550=) c.1518_1524delinsCCCGGCA (n.1518_1524delinsCCCGGCA) c.326_332delinsCCCGGCA (p.Ser109=) c.899_905delinsCCCGGCA (p.Ser300=) c.1577_1583delinsCCCGGCA (p.Ser526=) c.1700_1706delinsCCCGGCA (p.Ser567=) c.974_980delinsCCCGGCA (p.Ser325=) c.1580_1586delinsCCCGGCA (p.Ser527=) n.2423+2508_2423+2514delinsTGCCGGG n.1939_1945delinsCCCGGCA
10	g.18539556C>A	CA468649584	CACNB2,NSUN6	c.1671C>A (p.Ser557=) c.1536C>A (p.Ser512=) c.1659C>A (p.Ser553=) c.1731C>A (p.Ser577=) c.1815C>A (p.Ser605=) c.1653C>A (p.Ser551=) c.1440C>A (p.Ser480=) c.1617C>A (p.Ser539=) c.956C>A (n.956C>A) c.1557C>A (p.Ser519=) c.1089C>A (n.1089C>A) c.1372C>A (n.1372C>A) c.1054C>A (n.1054C>A) c.1635C>A (p.Ser545=) c.915C>A (n.915C>A) c.1743C>A (p.Ser581=) c.1065C>A (p.Ser355=) c.1650C>A (p.Ser550=) c.1519C>A (n.1519C>A) c.327C>A (p.Ser109=) c.900C>A (p.Ser300=) c.1578C>A (p.Ser526=) c.1701C>A (p.Ser567=) c.975C>A (p.Ser325=) c.1581C>A (p.Ser527=) n.2423+2513G>T n.1940C>A
10	g.18539556C>G	CA468649583	CACNB2,NSUN6	c.1671C>G (p.Ser557=) c.1536C>G (p.Ser512=) c.1659C>G (p.Ser553=) c.1731C>G (p.Ser577=) c.1815C>G (p.Ser605=) c.1653C>G (p.Ser551=) c.1440C>G (p.Ser480=) c.1617C>G (p.Ser539=) c.956C>G (n.956C>G) c.1557C>G (p.Ser519=) c.1089C>G (n.1089C>G) c.1372C>G (n.1372C>G) c.1054C>G (n.1054C>G) c.1635C>G (p.Ser545=) c.915C>G (n.915C>G) c.1743C>G (p.Ser581=) c.1065C>G (p.Ser355=) c.1650C>G (p.Ser550=) c.1519C>G (n.1519C>G) c.327C>G (p.Ser109=) c.900C>G (p.Ser300=) c.1578C>G (p.Ser526=) c.1701C>G (p.Ser567=) c.975C>G (p.Ser325=) c.1581C>G (p.Ser527=) n.2423+2513G>C n.1940C>G
10	g.18539556C>T	CA468649582	CACNB2,NSUN6	c.1671C>T (p.Ser557=) c.1536C>T (p.Ser512=) c.1659C>T (p.Ser553=) c.1731C>T (p.Ser577=) c.1815C>T (p.Ser605=) c.1653C>T (p.Ser551=) c.1440C>T (p.Ser480=) c.1617C>T (p.Ser539=) c.956C>T (n.956C>T) c.1557C>T (p.Ser519=) c.1089C>T (n.1089C>T) c.1372C>T (n.1372C>T) c.1054C>T (n.1054C>T) c.1635C>T (p.Ser545=) c.915C>T (n.915C>T) c.1743C>T (p.Ser581=) c.1065C>T (p.Ser355=) c.1650C>T (p.Ser550=) c.1519C>T (n.1519C>T) c.327C>T (p.Ser109=) c.900C>T (p.Ser300=) c.1578C>T (p.Ser526=) c.1701C>T (p.Ser567=) c.975C>T (p.Ser325=) c.1581C>T (p.Ser527=) n.2423+2513G>A n.1940C>T
10	g.18539559_18539564del	CA662520707	CACNB2,NSUN6	c.1674_1679del (p.His559_Arg560del) c.1539_1544del (p.His514_Arg515del) c.1662_1667del (p.His555_Arg556del) c.1734_1739del (p.His579_Arg580del) c.1818_1823del (p.His607_Arg608del) c.1656_1661del (p.His553_Arg554del) c.1443_1448del (p.His482_Arg483del) c.1620_1625del (p.His541_Arg542del) c.959_964del (n.959_964del) c.1560_1565del (p.His521_Arg522del) c.1092_1097del (n.1092_1097del) c.1375_1380del (n.1375_1380del) c.1057_1062del (n.1057_1062del) c.1638_1643del (p.His547_Arg548del) c.918_923del (n.918_923del) c.1746_1751del (p.His583_Arg584del) c.1068_1073del (p.His357_Arg358del) c.1653_1658del (p.His552_Arg553del) c.1522_1527del (n.1522_1527del) c.330_335del (p.His111_Arg112del) c.903_908del (p.His302_Arg303del) c.1581_1586del (p.His528_Arg529del) c.1704_1709del (p.His569_Arg570del) c.978_983del (p.His327_Arg328del) c.1584_1589del (p.His529_Arg530del) n.2423+2508_2423+2513del n.1943_1948del	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.18539557C>A	CA468649586	CACNB2,NSUN6	c.1672C>A (p.Arg558=) c.1537C>A (p.Arg513=) c.1660C>A (p.Arg554=) c.1732C>A (p.Arg578=) c.1816C>A (p.Arg606=) c.1654C>A (p.Arg552=) c.1441C>A (p.Arg481=) c.1618C>A (p.Arg540=) c.957C>A (n.957C>A) c.1558C>A (p.Arg520=) c.1090C>A (n.1090C>A) c.1373C>A (n.1373C>A) c.1055C>A (n.1055C>A) c.1636C>A (p.Arg546=) c.916C>A (n.916C>A) c.1744C>A (p.Arg582=) c.1066C>A (p.Arg356=) c.1651C>A (p.Arg551=) c.1520C>A (n.1520C>A) c.328C>A (p.Arg110=) c.901C>A (p.Arg301=) c.1579C>A (p.Arg527=) c.1702C>A (p.Arg568=) c.976C>A (p.Arg326=) c.1582C>A (p.Arg528=) n.2423+2512G>T n.1941C>A	gnomAD v4
10	g.18539557C=	CA1894173827	CACNB2,NSUN6	c.1672C= (p.Arg558=) c.1537C= (p.Arg513=) c.1660C= (p.Arg554=) c.1732C= (p.Arg578=) c.1816C= (p.Arg606=) c.1654C= (p.Arg552=) c.1441C= (p.Arg481=) c.1618C= (p.Arg540=) c.957C= (n.957C=) c.1558C= (p.Arg520=) c.1090C= (n.1090C=) c.1373C= (n.1373C=) c.1055C= (n.1055C=) c.1636C= (p.Arg546=) c.916C= (n.916C=) c.1744C= (p.Arg582=) c.1066C= (p.Arg356=) c.1651C= (p.Arg551=) c.1520C= (n.1520C=) c.328C= (p.Arg110=) c.901C= (p.Arg301=) c.1579C= (p.Arg527=) c.1702C= (p.Arg568=) c.976C= (p.Arg326=) c.1582C= (p.Arg528=) n.2423+2512G= n.1941C=
10	g.18539557C>G	CA199942	CACNB2,NSUN6	c.1672C>G (p.Arg558Gly) c.1537C>G (p.Arg513Gly) c.1660C>G (p.Arg554Gly) c.1732C>G (p.Arg578Gly) c.1816C>G (p.Arg606Gly) c.1654C>G (p.Arg552Gly) c.1441C>G (p.Arg481Gly) c.1618C>G (p.Arg540Gly) c.957C>G (n.957C>G) c.1558C>G (p.Arg520Gly) c.1090C>G (n.1090C>G) c.1373C>G (n.1373C>G) c.1055C>G (n.1055C>G) c.1636C>G (p.Arg546Gly) c.916C>G (n.916C>G) c.1744C>G (p.Arg582Gly) c.1066C>G (p.Arg356Gly) c.1651C>G (p.Arg551Gly) c.1520C>G (n.1520C>G) c.328C>G (p.Arg110Gly) c.901C>G (p.Arg301Gly) c.1579C>G (p.Arg527Gly) c.1702C>G (p.Arg568Gly) c.976C>G (p.Arg326Gly) c.1582C>G (p.Arg528Gly) n.2423+2512G>C n.1941C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539557C>T	CA235689	CACNB2,NSUN6	c.1672C>T (p.Arg558Trp) c.1537C>T (p.Arg513Trp) c.1660C>T (p.Arg554Trp) c.1732C>T (p.Arg578Trp) c.1816C>T (p.Arg606Trp) c.1654C>T (p.Arg552Trp) c.1441C>T (p.Arg481Trp) c.1618C>T (p.Arg540Trp) c.957C>T (n.957C>T) c.1558C>T (p.Arg520Trp) c.1090C>T (n.1090C>T) c.1373C>T (n.1373C>T) c.1055C>T (n.1055C>T) c.1636C>T (p.Arg546Trp) c.916C>T (n.916C>T) c.1744C>T (p.Arg582Trp) c.1066C>T (p.Arg356Trp) c.1651C>T (p.Arg551Trp) c.1520C>T (n.1520C>T) c.328C>T (p.Arg110Trp) c.901C>T (p.Arg301Trp) c.1579C>T (p.Arg527Trp) c.1702C>T (p.Arg568Trp) c.976C>T (p.Arg326Trp) c.1582C>T (p.Arg528Trp) n.2423+2512G>A n.1941C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539558G>A	CA5430177	CACNB2,NSUN6	c.1673G>A (p.Arg558Gln) c.1538G>A (p.Arg513Gln) c.1661G>A (p.Arg554Gln) c.1733G>A (p.Arg578Gln) c.1817G>A (p.Arg606Gln) c.1655G>A (p.Arg552Gln) c.1442G>A (p.Arg481Gln) c.1619G>A (p.Arg540Gln) c.958G>A (n.958G>A) c.1559G>A (p.Arg520Gln) c.1091G>A (n.1091G>A) c.1374G>A (n.1374G>A) c.1056G>A (n.1056G>A) c.1637G>A (p.Arg546Gln) c.917G>A (n.917G>A) c.1745G>A (p.Arg582Gln) c.1067G>A (p.Arg356Gln) c.1652G>A (p.Arg551Gln) c.1521G>A (n.1521G>A) c.329G>A (p.Arg110Gln) c.902G>A (p.Arg301Gln) c.1580G>A (p.Arg527Gln) c.1703G>A (p.Arg568Gln) c.977G>A (p.Arg326Gln) c.1583G>A (p.Arg528Gln) n.2423+2511C>T n.1942G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539558G>C	CA5430178	CACNB2,NSUN6	c.1673G>C (p.Arg558Pro) c.1538G>C (p.Arg513Pro) c.1661G>C (p.Arg554Pro) c.1733G>C (p.Arg578Pro) c.1817G>C (p.Arg606Pro) c.1655G>C (p.Arg552Pro) c.1442G>C (p.Arg481Pro) c.1619G>C (p.Arg540Pro) c.958G>C (n.958G>C) c.1559G>C (p.Arg520Pro) c.1091G>C (n.1091G>C) c.1374G>C (n.1374G>C) c.1056G>C (n.1056G>C) c.1637G>C (p.Arg546Pro) c.917G>C (n.917G>C) c.1745G>C (p.Arg582Pro) c.1067G>C (p.Arg356Pro) c.1652G>C (p.Arg551Pro) c.1521G>C (n.1521G>C) c.329G>C (p.Arg110Pro) c.902G>C (p.Arg301Pro) c.1580G>C (p.Arg527Pro) c.1703G>C (p.Arg568Pro) c.977G>C (p.Arg326Pro) c.1583G>C (p.Arg528Pro) n.2423+2511C>G n.1942G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539558G=	CA1894173834	CACNB2,NSUN6	c.1673G= (p.Arg558=) c.1538G= (p.Arg513=) c.1661G= (p.Arg554=) c.1733G= (p.Arg578=) c.1817G= (p.Arg606=) c.1655G= (p.Arg552=) c.1442G= (p.Arg481=) c.1619G= (p.Arg540=) c.958G= (n.958G=) c.1559G= (p.Arg520=) c.1091G= (n.1091G=) c.1374G= (n.1374G=) c.1056G= (n.1056G=) c.1637G= (p.Arg546=) c.917G= (n.917G=) c.1745G= (p.Arg582=) c.1067G= (p.Arg356=) c.1652G= (p.Arg551=) c.1521G= (n.1521G=) c.329G= (p.Arg110=) c.902G= (p.Arg301=) c.1580G= (p.Arg527=) c.1703G= (p.Arg568=) c.977G= (p.Arg326=) c.1583G= (p.Arg528=) n.2423+2511C= n.1942G=
10	g.18539558G>T	CA376072421	CACNB2,NSUN6	c.1673G>T (p.Arg558Leu) c.1538G>T (p.Arg513Leu) c.1661G>T (p.Arg554Leu) c.1733G>T (p.Arg578Leu) c.1817G>T (p.Arg606Leu) c.1655G>T (p.Arg552Leu) c.1442G>T (p.Arg481Leu) c.1619G>T (p.Arg540Leu) c.958G>T (n.958G>T) c.1559G>T (p.Arg520Leu) c.1091G>T (n.1091G>T) c.1374G>T (n.1374G>T) c.1056G>T (n.1056G>T) c.1637G>T (p.Arg546Leu) c.917G>T (n.917G>T) c.1745G>T (p.Arg582Leu) c.1067G>T (p.Arg356Leu) c.1652G>T (p.Arg551Leu) c.1521G>T (n.1521G>T) c.329G>T (p.Arg110Leu) c.902G>T (p.Arg301Leu) c.1580G>T (p.Arg527Leu) c.1703G>T (p.Arg568Leu) c.977G>T (p.Arg326Leu) c.1583G>T (p.Arg528Leu) n.2423+2511C>A n.1942G>T	dbSNP gnomAD v2 gnomAD v4
10	g.18539558delinsTGTGT	CA2580081382	CACNB2,NSUN6	c.1673delinsTGTGT (p.Arg558LeufsTer25) c.1538delinsTGTGT (p.Arg513LeufsTer25) c.1661delinsTGTGT (p.Arg554LeufsTer25) c.1733delinsTGTGT (p.Arg578LeufsTer25) c.1817delinsTGTGT (p.Arg606LeufsTer25) c.1655delinsTGTGT (p.Arg552LeufsTer25) c.1442delinsTGTGT (p.Arg481LeufsTer25) c.1619delinsTGTGT (p.Arg540LeufsTer25) c.958delinsTGTGT (n.958delinsTGTGT) c.1559delinsTGTGT (p.Arg520LeufsTer25) c.1091delinsTGTGT (n.1091delinsTGTGT) c.1374delinsTGTGT (n.1374delinsTGTGT) c.1056delinsTGTGT (n.1056delinsTGTGT) c.1637delinsTGTGT (p.Arg546LeufsTer25) c.917delinsTGTGT (n.917delinsTGTGT) c.1745delinsTGTGT (p.Arg582LeufsTer25) c.1067delinsTGTGT (p.Arg356LeufsTer25) c.1652delinsTGTGT (p.Arg551LeufsTer25) c.1521delinsTGTGT (n.1521delinsTGTGT) c.329delinsTGTGT (p.Arg110LeufsTer25) c.902delinsTGTGT (p.Arg301LeufsTer25) c.1580delinsTGTGT (p.Arg527LeufsTer25) c.1703delinsTGTGT (p.Arg568LeufsTer25) c.977delinsTGTGT (p.Arg326LeufsTer25) c.1583delinsTGTGT (p.Arg528LeufsTer25) n.2423+2511delinsACACA n.1942delinsTGTGT	ClinVar
10	g.18539559G>A	CA468649591	CACNB2,NSUN6	c.1674G>A (p.Arg558=) c.1539G>A (p.Arg513=) c.1662G>A (p.Arg554=) c.1734G>A (p.Arg578=) c.1818G>A (p.Arg606=) c.1656G>A (p.Arg552=) c.1443G>A (p.Arg481=) c.1620G>A (p.Arg540=) c.959G>A (n.959G>A) c.1560G>A (p.Arg520=) c.1092G>A (n.1092G>A) c.1375G>A (n.1375G>A) c.1057G>A (n.1057G>A) c.1638G>A (p.Arg546=) c.918G>A (n.918G>A) c.1746G>A (p.Arg582=) c.1068G>A (p.Arg356=) c.1653G>A (p.Arg551=) c.1522G>A (n.1522G>A) c.330G>A (p.Arg110=) c.903G>A (p.Arg301=) c.1581G>A (p.Arg527=) c.1704G>A (p.Arg568=) c.978G>A (p.Arg326=) c.1584G>A (p.Arg528=) n.2423+2510C>T n.1943G>A
10	g.18539559G>C	CA468649590	CACNB2,NSUN6	c.1674G>C (p.Arg558=) c.1539G>C (p.Arg513=) c.1662G>C (p.Arg554=) c.1734G>C (p.Arg578=) c.1818G>C (p.Arg606=) c.1656G>C (p.Arg552=) c.1443G>C (p.Arg481=) c.1620G>C (p.Arg540=) c.959G>C (n.959G>C) c.1560G>C (p.Arg520=) c.1092G>C (n.1092G>C) c.1375G>C (n.1375G>C) c.1057G>C (n.1057G>C) c.1638G>C (p.Arg546=) c.918G>C (n.918G>C) c.1746G>C (p.Arg582=) c.1068G>C (p.Arg356=) c.1653G>C (p.Arg551=) c.1522G>C (n.1522G>C) c.330G>C (p.Arg110=) c.903G>C (p.Arg301=) c.1581G>C (p.Arg527=) c.1704G>C (p.Arg568=) c.978G>C (p.Arg326=) c.1584G>C (p.Arg528=) n.2423+2510C>G n.1943G>C	dbSNP gnomAD v3 gnomAD v4
10	g.18539559G=	CA1894173841	CACNB2,NSUN6	c.1674G= (p.Arg558=) c.1539G= (p.Arg513=) c.1662G= (p.Arg554=) c.1734G= (p.Arg578=) c.1818G= (p.Arg606=) c.1656G= (p.Arg552=) c.1443G= (p.Arg481=) c.1620G= (p.Arg540=) c.959G= (n.959G=) c.1560G= (p.Arg520=) c.1092G= (n.1092G=) c.1375G= (n.1375G=) c.1057G= (n.1057G=) c.1638G= (p.Arg546=) c.918G= (n.918G=) c.1746G= (p.Arg582=) c.1068G= (p.Arg356=) c.1653G= (p.Arg551=) c.1522G= (n.1522G=) c.330G= (p.Arg110=) c.903G= (p.Arg301=) c.1581G= (p.Arg527=) c.1704G= (p.Arg568=) c.978G= (p.Arg326=) c.1584G= (p.Arg528=) n.2423+2510C= n.1943G=
10	g.18539559G>T	CA468649589	CACNB2,NSUN6	c.1674G>T (p.Arg558=) c.1539G>T (p.Arg513=) c.1662G>T (p.Arg554=) c.1734G>T (p.Arg578=) c.1818G>T (p.Arg606=) c.1656G>T (p.Arg552=) c.1443G>T (p.Arg481=) c.1620G>T (p.Arg540=) c.959G>T (n.959G>T) c.1560G>T (p.Arg520=) c.1092G>T (n.1092G>T) c.1375G>T (n.1375G>T) c.1057G>T (n.1057G>T) c.1638G>T (p.Arg546=) c.918G>T (n.918G>T) c.1746G>T (p.Arg582=) c.1068G>T (p.Arg356=) c.1653G>T (p.Arg551=) c.1522G>T (n.1522G>T) c.330G>T (p.Arg110=) c.903G>T (p.Arg301=) c.1581G>T (p.Arg527=) c.1704G>T (p.Arg568=) c.978G>T (p.Arg326=) c.1584G>T (p.Arg528=) n.2423+2510C>A n.1943G>T	COSMIC COSMIC COSMIC
10	g.18539560C>A	CA376072425	CACNB2,NSUN6	c.1675C>A (p.His559Asn) c.1540C>A (p.His514Asn) c.1663C>A (p.His555Asn) c.1735C>A (p.His579Asn) c.1819C>A (p.His607Asn) c.1657C>A (p.His553Asn) c.1444C>A (p.His482Asn) c.1621C>A (p.His541Asn) c.960C>A (n.960C>A) c.1561C>A (p.His521Asn) c.1093C>A (n.1093C>A) c.1376C>A (n.1376C>A) c.1058C>A (n.1058C>A) c.1639C>A (p.His547Asn) c.919C>A (n.919C>A) c.1747C>A (p.His583Asn) c.1069C>A (p.His357Asn) c.1654C>A (p.His552Asn) c.1523C>A (n.1523C>A) c.331C>A (p.His111Asn) c.904C>A (p.His302Asn) c.1582C>A (p.His528Asn) c.1705C>A (p.His569Asn) c.979C>A (p.His327Asn) c.1585C>A (p.His529Asn) n.2423+2509G>T n.1944C>A
10	g.18539560C=	CA1894173846	CACNB2,NSUN6	c.1675C= (p.His559=) c.1540C= (p.His514=) c.1663C= (p.His555=) c.1735C= (p.His579=) c.1819C= (p.His607=) c.1657C= (p.His553=) c.1444C= (p.His482=) c.1621C= (p.His541=) c.960C= (n.960C=) c.1561C= (p.His521=) c.1093C= (n.1093C=) c.1376C= (n.1376C=) c.1058C= (n.1058C=) c.1639C= (p.His547=) c.919C= (n.919C=) c.1747C= (p.His583=) c.1069C= (p.His357=) c.1654C= (p.His552=) c.1523C= (n.1523C=) c.331C= (p.His111=) c.904C= (p.His302=) c.1582C= (p.His528=) c.1705C= (p.His569=) c.979C= (p.His327=) c.1585C= (p.His529=) n.2423+2509G= n.1944C=
10	g.18539560C>G	CA376072427	CACNB2,NSUN6	c.1675C>G (p.His559Asp) c.1540C>G (p.His514Asp) c.1663C>G (p.His555Asp) c.1735C>G (p.His579Asp) c.1819C>G (p.His607Asp) c.1657C>G (p.His553Asp) c.1444C>G (p.His482Asp) c.1621C>G (p.His541Asp) c.960C>G (n.960C>G) c.1561C>G (p.His521Asp) c.1093C>G (n.1093C>G) c.1376C>G (n.1376C>G) c.1058C>G (n.1058C>G) c.1639C>G (p.His547Asp) c.919C>G (n.919C>G) c.1747C>G (p.His583Asp) c.1069C>G (p.His357Asp) c.1654C>G (p.His552Asp) c.1523C>G (n.1523C>G) c.331C>G (p.His111Asp) c.904C>G (p.His302Asp) c.1582C>G (p.His528Asp) c.1705C>G (p.His569Asp) c.979C>G (p.His327Asp) c.1585C>G (p.His529Asp) n.2423+2509G>C n.1944C>G
10	g.18539560C>T	CA376072430	CACNB2,NSUN6	c.1675C>T (p.His559Tyr) c.1540C>T (p.His514Tyr) c.1663C>T (p.His555Tyr) c.1735C>T (p.His579Tyr) c.1819C>T (p.His607Tyr) c.1657C>T (p.His553Tyr) c.1444C>T (p.His482Tyr) c.1621C>T (p.His541Tyr) c.960C>T (n.960C>T) c.1561C>T (p.His521Tyr) c.1093C>T (n.1093C>T) c.1376C>T (n.1376C>T) c.1058C>T (n.1058C>T) c.1639C>T (p.His547Tyr) c.919C>T (n.919C>T) c.1747C>T (p.His583Tyr) c.1069C>T (p.His357Tyr) c.1654C>T (p.His552Tyr) c.1523C>T (n.1523C>T) c.331C>T (p.His111Tyr) c.904C>T (p.His302Tyr) c.1582C>T (p.His528Tyr) c.1705C>T (p.His569Tyr) c.979C>T (p.His327Tyr) c.1585C>T (p.His529Tyr) n.2423+2509G>A n.1944C>T
10	g.18539561A>C	CA376072437	CACNB2,NSUN6	c.1676A>C (p.His559Pro) c.1541A>C (p.His514Pro) c.1664A>C (p.His555Pro) c.1736A>C (p.His579Pro) c.1820A>C (p.His607Pro) c.1658A>C (p.His553Pro) c.1445A>C (p.His482Pro) c.1622A>C (p.His541Pro) c.961A>C (n.961A>C) c.1562A>C (p.His521Pro) c.1094A>C (n.1094A>C) c.1377A>C (n.1377A>C) c.1059A>C (n.1059A>C) c.1640A>C (p.His547Pro) c.920A>C (n.920A>C) c.1748A>C (p.His583Pro) c.1070A>C (p.His357Pro) c.1655A>C (p.His552Pro) c.1524A>C (n.1524A>C) c.332A>C (p.His111Pro) c.905A>C (p.His302Pro) c.1583A>C (p.His528Pro) c.1706A>C (p.His569Pro) c.980A>C (p.His327Pro) c.1586A>C (p.His529Pro) n.2423+2508T>G n.1945A>C
10	g.18539561A>G	CA376072433	CACNB2,NSUN6	c.1676A>G (p.His559Arg) c.1541A>G (p.His514Arg) c.1664A>G (p.His555Arg) c.1736A>G (p.His579Arg) c.1820A>G (p.His607Arg) c.1658A>G (p.His553Arg) c.1445A>G (p.His482Arg) c.1622A>G (p.His541Arg) c.961A>G (n.961A>G) c.1562A>G (p.His521Arg) c.1094A>G (n.1094A>G) c.1377A>G (n.1377A>G) c.1059A>G (n.1059A>G) c.1640A>G (p.His547Arg) c.920A>G (n.920A>G) c.1748A>G (p.His583Arg) c.1070A>G (p.His357Arg) c.1655A>G (p.His552Arg) c.1524A>G (n.1524A>G) c.332A>G (p.His111Arg) c.905A>G (p.His302Arg) c.1583A>G (p.His528Arg) c.1706A>G (p.His569Arg) c.980A>G (p.His327Arg) c.1586A>G (p.His529Arg) n.2423+2508T>C n.1945A>G
10	g.18539561A>T	CA376072435	CACNB2,NSUN6	c.1676A>T (p.His559Leu) c.1541A>T (p.His514Leu) c.1664A>T (p.His555Leu) c.1736A>T (p.His579Leu) c.1820A>T (p.His607Leu) c.1658A>T (p.His553Leu) c.1445A>T (p.His482Leu) c.1622A>T (p.His541Leu) c.961A>T (n.961A>T) c.1562A>T (p.His521Leu) c.1094A>T (n.1094A>T) c.1377A>T (n.1377A>T) c.1059A>T (n.1059A>T) c.1640A>T (p.His547Leu) c.920A>T (n.920A>T) c.1748A>T (p.His583Leu) c.1070A>T (p.His357Leu) c.1655A>T (p.His552Leu) c.1524A>T (n.1524A>T) c.332A>T (p.His111Leu) c.905A>T (p.His302Leu) c.1583A>T (p.His528Leu) c.1706A>T (p.His569Leu) c.980A>T (p.His327Leu) c.1586A>T (p.His529Leu) n.2423+2508T>A n.1945A>T
10	g.18539563_18539574dup	CA1894173849	CACNB2,NSUN6	c.1678_1689dup (p.Asp563_Val564insArgSerArgAsp) c.1543_1554dup (p.Asp518_Val519insArgSerArgAsp) c.1666_1677dup (p.Asp559_Val560insArgSerArgAsp) c.1738_1749dup (p.Asp583_Val584insArgSerArgAsp) c.1822_1833dup (p.Asp611_Val612insArgSerArgAsp) c.1660_1671dup (p.Asp557_Val558insArgSerArgAsp) c.1447_1458dup (p.Asp486_Val487insArgSerArgAsp) c.1624_1635dup (p.Asp545_Val546insArgSerArgAsp) c.963_974dup (n.963_974dup) c.1564_1575dup (p.Asp525_Val526insArgSerArgAsp) c.1096_1107dup (n.1096_1107dup) c.1379_1390dup (n.1379_1390dup) c.1061_1072dup (n.1061_1072dup) c.1642_1653dup (p.Asp551_Val552insArgSerArgAsp) c.922_933dup (n.922_933dup) c.1750_1761dup (p.Asp587_Val588insArgSerArgAsp) c.1072_1083dup (p.Asp361_Val362insArgSerArgAsp) c.1657_1668dup (p.Asp556_Val557insArgSerArgAsp) c.1526_1537dup (n.1526_1537dup) c.334_345dup (p.Asp115_Val116insArgSerArgAsp) c.907_918dup (p.Asp306_Val307insArgSerArgAsp) c.1585_1596dup (p.Asp532_Val533insArgSerArgAsp) c.1708_1719dup (p.Asp573_Val574insArgSerArgAsp) c.982_993dup (p.Asp331_Val332insArgSerArgAsp) c.1588_1599dup (p.Asp533_Val534insArgSerArgAsp) n.2423+2497_2423+2508dup n.1947_1958dup	ClinVar dbSNP
10	g.18539562C>A	CA376072440	CACNB2,NSUN6	c.1677C>A (p.His559Gln) c.1542C>A (p.His514Gln) c.1665C>A (p.His555Gln) c.1737C>A (p.His579Gln) c.1821C>A (p.His607Gln) c.1659C>A (p.His553Gln) c.1446C>A (p.His482Gln) c.1623C>A (p.His541Gln) c.962C>A (n.962C>A) c.1563C>A (p.His521Gln) c.1095C>A (n.1095C>A) c.1378C>A (n.1378C>A) c.1060C>A (n.1060C>A) c.1641C>A (p.His547Gln) c.921C>A (n.921C>A) c.1749C>A (p.His583Gln) c.1071C>A (p.His357Gln) c.1656C>A (p.His552Gln) c.1525C>A (n.1525C>A) c.333C>A (p.His111Gln) c.906C>A (p.His302Gln) c.1584C>A (p.His528Gln) c.1707C>A (p.His569Gln) c.981C>A (p.His327Gln) c.1587C>A (p.His529Gln) n.2423+2507G>T n.1946C>A
10	g.18539562C>G	CA376072443	CACNB2,NSUN6	c.1677C>G (p.His559Gln) c.1542C>G (p.His514Gln) c.1665C>G (p.His555Gln) c.1737C>G (p.His579Gln) c.1821C>G (p.His607Gln) c.1659C>G (p.His553Gln) c.1446C>G (p.His482Gln) c.1623C>G (p.His541Gln) c.962C>G (n.962C>G) c.1563C>G (p.His521Gln) c.1095C>G (n.1095C>G) c.1378C>G (n.1378C>G) c.1060C>G (n.1060C>G) c.1641C>G (p.His547Gln) c.921C>G (n.921C>G) c.1749C>G (p.His583Gln) c.1071C>G (p.His357Gln) c.1656C>G (p.His552Gln) c.1525C>G (n.1525C>G) c.333C>G (p.His111Gln) c.906C>G (p.His302Gln) c.1584C>G (p.His528Gln) c.1707C>G (p.His569Gln) c.981C>G (p.His327Gln) c.1587C>G (p.His529Gln) n.2423+2507G>C n.1946C>G	gnomAD v4
10	g.18539562C>T	CA468649593	CACNB2,NSUN6	c.1677C>T (p.His559=) c.1542C>T (p.His514=) c.1665C>T (p.His555=) c.1737C>T (p.His579=) c.1821C>T (p.His607=) c.1659C>T (p.His553=) c.1446C>T (p.His482=) c.1623C>T (p.His541=) c.962C>T (n.962C>T) c.1563C>T (p.His521=) c.1095C>T (n.1095C>T) c.1378C>T (n.1378C>T) c.1060C>T (n.1060C>T) c.1641C>T (p.His547=) c.921C>T (n.921C>T) c.1749C>T (p.His583=) c.1071C>T (p.His357=) c.1656C>T (p.His552=) c.1525C>T (n.1525C>T) c.333C>T (p.His111=) c.906C>T (p.His302=) c.1584C>T (p.His528=) c.1707C>T (p.His569=) c.981C>T (p.His327=) c.1587C>T (p.His529=) n.2423+2507G>A n.1946C>T
10	g.18539563C>A	CA376072446	CACNB2,NSUN6	c.1678C>A (p.Arg560Ser) c.1543C>A (p.Arg515Ser) c.1666C>A (p.Arg556Ser) c.1738C>A (p.Arg580Ser) c.1822C>A (p.Arg608Ser) c.1660C>A (p.Arg554Ser) c.1447C>A (p.Arg483Ser) c.1624C>A (p.Arg542Ser) c.963C>A (n.963C>A) c.1564C>A (p.Arg522Ser) c.1096C>A (n.1096C>A) c.1379C>A (n.1379C>A) c.1061C>A (n.1061C>A) c.1642C>A (p.Arg548Ser) c.922C>A (n.922C>A) c.1750C>A (p.Arg584Ser) c.1072C>A (p.Arg358Ser) c.1657C>A (p.Arg553Ser) c.1526C>A (n.1526C>A) c.334C>A (p.Arg112Ser) c.907C>A (p.Arg303Ser) c.1585C>A (p.Arg529Ser) c.1708C>A (p.Arg570Ser) c.982C>A (p.Arg328Ser) c.1588C>A (p.Arg530Ser) n.2423+2506G>T n.1947C>A	gnomAD v4
10	g.18539563C=	CA1894173853	CACNB2,NSUN6	c.1678C= (p.Arg560=) c.1543C= (p.Arg515=) c.1666C= (p.Arg556=) c.1738C= (p.Arg580=) c.1822C= (p.Arg608=) c.1660C= (p.Arg554=) c.1447C= (p.Arg483=) c.1624C= (p.Arg542=) c.963C= (n.963C=) c.1564C= (p.Arg522=) c.1096C= (n.1096C=) c.1379C= (n.1379C=) c.1061C= (n.1061C=) c.1642C= (p.Arg548=) c.922C= (n.922C=) c.1750C= (p.Arg584=) c.1072C= (p.Arg358=) c.1657C= (p.Arg553=) c.1526C= (n.1526C=) c.334C= (p.Arg112=) c.907C= (p.Arg303=) c.1585C= (p.Arg529=) c.1708C= (p.Arg570=) c.982C= (p.Arg328=) c.1588C= (p.Arg530=) n.2423+2506G= n.1947C=
10	g.18539563C>G	CA376072449	CACNB2,NSUN6	c.1678C>G (p.Arg560Gly) c.1543C>G (p.Arg515Gly) c.1666C>G (p.Arg556Gly) c.1738C>G (p.Arg580Gly) c.1822C>G (p.Arg608Gly) c.1660C>G (p.Arg554Gly) c.1447C>G (p.Arg483Gly) c.1624C>G (p.Arg542Gly) c.963C>G (n.963C>G) c.1564C>G (p.Arg522Gly) c.1096C>G (n.1096C>G) c.1379C>G (n.1379C>G) c.1061C>G (n.1061C>G) c.1642C>G (p.Arg548Gly) c.922C>G (n.922C>G) c.1750C>G (p.Arg584Gly) c.1072C>G (p.Arg358Gly) c.1657C>G (p.Arg553Gly) c.1526C>G (n.1526C>G) c.334C>G (p.Arg112Gly) c.907C>G (p.Arg303Gly) c.1585C>G (p.Arg529Gly) c.1708C>G (p.Arg570Gly) c.982C>G (p.Arg328Gly) c.1588C>G (p.Arg530Gly) n.2423+2506G>C n.1947C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539563C>T	CA203167351	CACNB2,NSUN6	c.1678C>T (p.Arg560Cys) c.1543C>T (p.Arg515Cys) c.1666C>T (p.Arg556Cys) c.1738C>T (p.Arg580Cys) c.1822C>T (p.Arg608Cys) c.1660C>T (p.Arg554Cys) c.1447C>T (p.Arg483Cys) c.1624C>T (p.Arg542Cys) c.963C>T (n.963C>T) c.1564C>T (p.Arg522Cys) c.1096C>T (n.1096C>T) c.1379C>T (n.1379C>T) c.1061C>T (n.1061C>T) c.1642C>T (p.Arg548Cys) c.922C>T (n.922C>T) c.1750C>T (p.Arg584Cys) c.1072C>T (p.Arg358Cys) c.1657C>T (p.Arg553Cys) c.1526C>T (n.1526C>T) c.334C>T (p.Arg112Cys) c.907C>T (p.Arg303Cys) c.1585C>T (p.Arg529Cys) c.1708C>T (p.Arg570Cys) c.982C>T (p.Arg328Cys) c.1588C>T (p.Arg530Cys) n.2423+2506G>A n.1947C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539564G>A	CA5430179	CACNB2,NSUN6	c.1679G>A (p.Arg560His) c.1544G>A (p.Arg515His) c.1667G>A (p.Arg556His) c.1739G>A (p.Arg580His) c.1823G>A (p.Arg608His) c.1661G>A (p.Arg554His) c.1448G>A (p.Arg483His) c.1625G>A (p.Arg542His) c.964G>A (n.964G>A) c.1565G>A (p.Arg522His) c.1097G>A (n.1097G>A) c.1380G>A (n.1380G>A) c.1062G>A (n.1062G>A) c.1643G>A (p.Arg548His) c.923G>A (n.923G>A) c.1751G>A (p.Arg584His) c.1073G>A (p.Arg358His) c.1658G>A (p.Arg553His) c.1527G>A (n.1527G>A) c.335G>A (p.Arg112His) c.908G>A (p.Arg303His) c.1586G>A (p.Arg529His) c.1709G>A (p.Arg570His) c.983G>A (p.Arg328His) c.1589G>A (p.Arg530His) n.2423+2505C>T n.1948G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539564G>C	CA376072459	CACNB2,NSUN6	c.1679G>C (p.Arg560Pro) c.1544G>C (p.Arg515Pro) c.1667G>C (p.Arg556Pro) c.1739G>C (p.Arg580Pro) c.1823G>C (p.Arg608Pro) c.1661G>C (p.Arg554Pro) c.1448G>C (p.Arg483Pro) c.1625G>C (p.Arg542Pro) c.964G>C (n.964G>C) c.1565G>C (p.Arg522Pro) c.1097G>C (n.1097G>C) c.1380G>C (n.1380G>C) c.1062G>C (n.1062G>C) c.1643G>C (p.Arg548Pro) c.923G>C (n.923G>C) c.1751G>C (p.Arg584Pro) c.1073G>C (p.Arg358Pro) c.1658G>C (p.Arg553Pro) c.1527G>C (n.1527G>C) c.335G>C (p.Arg112Pro) c.908G>C (p.Arg303Pro) c.1586G>C (p.Arg529Pro) c.1709G>C (p.Arg570Pro) c.983G>C (p.Arg328Pro) c.1589G>C (p.Arg530Pro) n.2423+2505C>G n.1948G>C	gnomAD v4
10	g.18539564G=	CA1894173863	CACNB2,NSUN6	c.1679G= (p.Arg560=) c.1544G= (p.Arg515=) c.1667G= (p.Arg556=) c.1739G= (p.Arg580=) c.1823G= (p.Arg608=) c.1661G= (p.Arg554=) c.1448G= (p.Arg483=) c.1625G= (p.Arg542=) c.964G= (n.964G=) c.1565G= (p.Arg522=) c.1097G= (n.1097G=) c.1380G= (n.1380G=) c.1062G= (n.1062G=) c.1643G= (p.Arg548=) c.923G= (n.923G=) c.1751G= (p.Arg584=) c.1073G= (p.Arg358=) c.1658G= (p.Arg553=) c.1527G= (n.1527G=) c.335G= (p.Arg112=) c.908G= (p.Arg303=) c.1586G= (p.Arg529=) c.1709G= (p.Arg570=) c.983G= (p.Arg328=) c.1589G= (p.Arg530=) n.2423+2505C= n.1948G=
10	g.18539564G>T	CA376072456	CACNB2,NSUN6	c.1679G>T (p.Arg560Leu) c.1544G>T (p.Arg515Leu) c.1667G>T (p.Arg556Leu) c.1739G>T (p.Arg580Leu) c.1823G>T (p.Arg608Leu) c.1661G>T (p.Arg554Leu) c.1448G>T (p.Arg483Leu) c.1625G>T (p.Arg542Leu) c.964G>T (n.964G>T) c.1565G>T (p.Arg522Leu) c.1097G>T (n.1097G>T) c.1380G>T (n.1380G>T) c.1062G>T (n.1062G>T) c.1643G>T (p.Arg548Leu) c.923G>T (n.923G>T) c.1751G>T (p.Arg584Leu) c.1073G>T (p.Arg358Leu) c.1658G>T (p.Arg553Leu) c.1527G>T (n.1527G>T) c.335G>T (p.Arg112Leu) c.908G>T (p.Arg303Leu) c.1586G>T (p.Arg529Leu) c.1709G>T (p.Arg570Leu) c.983G>T (p.Arg328Leu) c.1589G>T (p.Arg530Leu) n.2423+2505C>A n.1948G>T	ClinVar gnomAD v4
10	g.18539565T>A	CA468649597	CACNB2,NSUN6	c.1680T>A (p.Arg560=) c.1545T>A (p.Arg515=) c.1668T>A (p.Arg556=) c.1740T>A (p.Arg580=) c.1824T>A (p.Arg608=) c.1662T>A (p.Arg554=) c.1449T>A (p.Arg483=) c.1626T>A (p.Arg542=) c.965T>A (n.965T>A) c.1566T>A (p.Arg522=) c.1098T>A (n.1098T>A) c.1381T>A (n.1381T>A) c.1063T>A (n.1063T>A) c.1644T>A (p.Arg548=) c.924T>A (n.924T>A) c.1752T>A (p.Arg584=) c.1074T>A (p.Arg358=) c.1659T>A (p.Arg553=) c.1528T>A (n.1528T>A) c.336T>A (p.Arg112=) c.909T>A (p.Arg303=) c.1587T>A (p.Arg529=) c.1710T>A (p.Arg570=) c.984T>A (p.Arg328=) c.1590T>A (p.Arg530=) n.2423+2504A>T n.1949T>A
10	g.18539565T>C	CA468649598	CACNB2,NSUN6	c.1680T>C (p.Arg560=) c.1545T>C (p.Arg515=) c.1668T>C (p.Arg556=) c.1740T>C (p.Arg580=) c.1824T>C (p.Arg608=) c.1662T>C (p.Arg554=) c.1449T>C (p.Arg483=) c.1626T>C (p.Arg542=) c.965T>C (n.965T>C) c.1566T>C (p.Arg522=) c.1098T>C (n.1098T>C) c.1381T>C (n.1381T>C) c.1063T>C (n.1063T>C) c.1644T>C (p.Arg548=) c.924T>C (n.924T>C) c.1752T>C (p.Arg584=) c.1074T>C (p.Arg358=) c.1659T>C (p.Arg553=) c.1528T>C (n.1528T>C) c.336T>C (p.Arg112=) c.909T>C (p.Arg303=) c.1587T>C (p.Arg529=) c.1710T>C (p.Arg570=) c.984T>C (p.Arg328=) c.1590T>C (p.Arg530=) n.2423+2504A>G n.1949T>C	dbSNP gnomAD v3 gnomAD v4
10	g.18539565T>G	CA468649599	CACNB2,NSUN6	c.1680T>G (p.Arg560=) c.1545T>G (p.Arg515=) c.1668T>G (p.Arg556=) c.1740T>G (p.Arg580=) c.1824T>G (p.Arg608=) c.1662T>G (p.Arg554=) c.1449T>G (p.Arg483=) c.1626T>G (p.Arg542=) c.965T>G (n.965T>G) c.1566T>G (p.Arg522=) c.1098T>G (n.1098T>G) c.1381T>G (n.1381T>G) c.1063T>G (n.1063T>G) c.1644T>G (p.Arg548=) c.924T>G (n.924T>G) c.1752T>G (p.Arg584=) c.1074T>G (p.Arg358=) c.1659T>G (p.Arg553=) c.1528T>G (n.1528T>G) c.336T>G (p.Arg112=) c.909T>G (p.Arg303=) c.1587T>G (p.Arg529=) c.1710T>G (p.Arg570=) c.984T>G (p.Arg328=) c.1590T>G (p.Arg530=) n.2423+2504A>C n.1949T>G
10	g.18539565T=	CA1894173869	CACNB2,NSUN6	c.1680T= (p.Arg560=) c.1545T= (p.Arg515=) c.1668T= (p.Arg556=) c.1740T= (p.Arg580=) c.1824T= (p.Arg608=) c.1662T= (p.Arg554=) c.1449T= (p.Arg483=) c.1626T= (p.Arg542=) c.965T= (n.965T=) c.1566T= (p.Arg522=) c.1098T= (n.1098T=) c.1381T= (n.1381T=) c.1063T= (n.1063T=) c.1644T= (p.Arg548=) c.924T= (n.924T=) c.1752T= (p.Arg584=) c.1074T= (p.Arg358=) c.1659T= (p.Arg553=) c.1528T= (n.1528T=) c.336T= (p.Arg112=) c.909T= (p.Arg303=) c.1587T= (p.Arg529=) c.1710T= (p.Arg570=) c.984T= (p.Arg328=) c.1590T= (p.Arg530=) n.2423+2504A= n.1949T=
10	g.18539566T>A	CA16618948	CACNB2,NSUN6	c.1681T>A (p.Ser561Thr) c.1546T>A (p.Ser516Thr) c.1669T>A (p.Ser557Thr) c.1741T>A (p.Ser581Thr) c.1825T>A (p.Ser609Thr) c.1663T>A (p.Ser555Thr) c.1450T>A (p.Ser484Thr) c.1627T>A (p.Ser543Thr) c.966T>A (n.966T>A) c.1567T>A (p.Ser523Thr) c.1099T>A (n.1099T>A) c.1382T>A (n.1382T>A) c.1064T>A (n.1064T>A) c.1645T>A (p.Ser549Thr) c.925T>A (n.925T>A) c.1753T>A (p.Ser585Thr) c.1075T>A (p.Ser359Thr) c.1660T>A (p.Ser554Thr) c.1529T>A (n.1529T>A) c.337T>A (p.Ser113Thr) c.910T>A (p.Ser304Thr) c.1588T>A (p.Ser530Thr) c.1711T>A (p.Ser571Thr) c.985T>A (p.Ser329Thr) c.1591T>A (p.Ser531Thr) n.2423+2503A>T n.1950T>A	ClinVar dbSNP
10	g.18539566T>C	CA376072467	CACNB2,NSUN6	c.1681T>C (p.Ser561Pro) c.1546T>C (p.Ser516Pro) c.1669T>C (p.Ser557Pro) c.1741T>C (p.Ser581Pro) c.1825T>C (p.Ser609Pro) c.1663T>C (p.Ser555Pro) c.1450T>C (p.Ser484Pro) c.1627T>C (p.Ser543Pro) c.966T>C (n.966T>C) c.1567T>C (p.Ser523Pro) c.1099T>C (n.1099T>C) c.1382T>C (n.1382T>C) c.1064T>C (n.1064T>C) c.1645T>C (p.Ser549Pro) c.925T>C (n.925T>C) c.1753T>C (p.Ser585Pro) c.1075T>C (p.Ser359Pro) c.1660T>C (p.Ser554Pro) c.1529T>C (n.1529T>C) c.337T>C (p.Ser113Pro) c.910T>C (p.Ser304Pro) c.1588T>C (p.Ser530Pro) c.1711T>C (p.Ser571Pro) c.985T>C (p.Ser329Pro) c.1591T>C (p.Ser531Pro) n.2423+2503A>G n.1950T>C
10	g.18539566T>G	CA376072470	CACNB2,NSUN6	c.1681T>G (p.Ser561Ala) c.1546T>G (p.Ser516Ala) c.1669T>G (p.Ser557Ala) c.1741T>G (p.Ser581Ala) c.1825T>G (p.Ser609Ala) c.1663T>G (p.Ser555Ala) c.1450T>G (p.Ser484Ala) c.1627T>G (p.Ser543Ala) c.966T>G (n.966T>G) c.1567T>G (p.Ser523Ala) c.1099T>G (n.1099T>G) c.1382T>G (n.1382T>G) c.1064T>G (n.1064T>G) c.1645T>G (p.Ser549Ala) c.925T>G (n.925T>G) c.1753T>G (p.Ser585Ala) c.1075T>G (p.Ser359Ala) c.1660T>G (p.Ser554Ala) c.1529T>G (n.1529T>G) c.337T>G (p.Ser113Ala) c.910T>G (p.Ser304Ala) c.1588T>G (p.Ser530Ala) c.1711T>G (p.Ser571Ala) c.985T>G (p.Ser329Ala) c.1591T>G (p.Ser531Ala) n.2423+2503A>C n.1950T>G
10	g.18539566T=	CA1894173874	CACNB2,NSUN6	c.1681T= (p.Ser561=) c.1546T= (p.Ser516=) c.1669T= (p.Ser557=) c.1741T= (p.Ser581=) c.1825T= (p.Ser609=) c.1663T= (p.Ser555=) c.1450T= (p.Ser484=) c.1627T= (p.Ser543=) c.966T= (n.966T=) c.1567T= (p.Ser523=) c.1099T= (n.1099T=) c.1382T= (n.1382T=) c.1064T= (n.1064T=) c.1645T= (p.Ser549=) c.925T= (n.925T=) c.1753T= (p.Ser585=) c.1075T= (p.Ser359=) c.1660T= (p.Ser554=) c.1529T= (n.1529T=) c.337T= (p.Ser113=) c.910T= (p.Ser304=) c.1588T= (p.Ser530=) c.1711T= (p.Ser571=) c.985T= (p.Ser329=) c.1591T= (p.Ser531=) n.2423+2503A= n.1950T=
10	g.18539567C>A	CA376072473	CACNB2,NSUN6	c.1682C>A (p.Ser561Tyr) c.1547C>A (p.Ser516Tyr) c.1670C>A (p.Ser557Tyr) c.1742C>A (p.Ser581Tyr) c.1826C>A (p.Ser609Tyr) c.1664C>A (p.Ser555Tyr) c.1451C>A (p.Ser484Tyr) c.1628C>A (p.Ser543Tyr) c.967C>A (n.967C>A) c.1568C>A (p.Ser523Tyr) c.1100C>A (n.1100C>A) c.1383C>A (n.1383C>A) c.1065C>A (n.1065C>A) c.1646C>A (p.Ser549Tyr) c.926C>A (n.926C>A) c.1754C>A (p.Ser585Tyr) c.1076C>A (p.Ser359Tyr) c.1661C>A (p.Ser554Tyr) c.1530C>A (n.1530C>A) c.338C>A (p.Ser113Tyr) c.911C>A (p.Ser304Tyr) c.1589C>A (p.Ser530Tyr) c.1712C>A (p.Ser571Tyr) c.986C>A (p.Ser329Tyr) c.1592C>A (p.Ser531Tyr) n.2423+2502G>T n.1951C>A	gnomAD v4
10	g.18539567C>G	CA376072474	CACNB2,NSUN6	c.1682C>G (p.Ser561Cys) c.1547C>G (p.Ser516Cys) c.1670C>G (p.Ser557Cys) c.1742C>G (p.Ser581Cys) c.1826C>G (p.Ser609Cys) c.1664C>G (p.Ser555Cys) c.1451C>G (p.Ser484Cys) c.1628C>G (p.Ser543Cys) c.967C>G (n.967C>G) c.1568C>G (p.Ser523Cys) c.1100C>G (n.1100C>G) c.1383C>G (n.1383C>G) c.1065C>G (n.1065C>G) c.1646C>G (p.Ser549Cys) c.926C>G (n.926C>G) c.1754C>G (p.Ser585Cys) c.1076C>G (p.Ser359Cys) c.1661C>G (p.Ser554Cys) c.1530C>G (n.1530C>G) c.338C>G (p.Ser113Cys) c.911C>G (p.Ser304Cys) c.1589C>G (p.Ser530Cys) c.1712C>G (p.Ser571Cys) c.986C>G (p.Ser329Cys) c.1592C>G (p.Ser531Cys) n.2423+2502G>C n.1951C>G
10	g.18539567C>T	CA376072477	CACNB2,NSUN6	c.1682C>T (p.Ser561Phe) c.1547C>T (p.Ser516Phe) c.1670C>T (p.Ser557Phe) c.1742C>T (p.Ser581Phe) c.1826C>T (p.Ser609Phe) c.1664C>T (p.Ser555Phe) c.1451C>T (p.Ser484Phe) c.1628C>T (p.Ser543Phe) c.967C>T (n.967C>T) c.1568C>T (p.Ser523Phe) c.1100C>T (n.1100C>T) c.1383C>T (n.1383C>T) c.1065C>T (n.1065C>T) c.1646C>T (p.Ser549Phe) c.926C>T (n.926C>T) c.1754C>T (p.Ser585Phe) c.1076C>T (p.Ser359Phe) c.1661C>T (p.Ser554Phe) c.1530C>T (n.1530C>T) c.338C>T (p.Ser113Phe) c.911C>T (p.Ser304Phe) c.1589C>T (p.Ser530Phe) c.1712C>T (p.Ser571Phe) c.986C>T (p.Ser329Phe) c.1592C>T (p.Ser531Phe) n.2423+2502G>A n.1951C>T	COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539568C>A	CA468649603	CACNB2,NSUN6	c.1683C>A (p.Ser561=) c.1548C>A (p.Ser516=) c.1671C>A (p.Ser557=) c.1743C>A (p.Ser581=) c.1827C>A (p.Ser609=) c.1665C>A (p.Ser555=) c.1452C>A (p.Ser484=) c.1629C>A (p.Ser543=) c.968C>A (n.968C>A) c.1569C>A (p.Ser523=) c.1101C>A (n.1101C>A) c.1384C>A (n.1384C>A) c.1066C>A (n.1066C>A) c.1647C>A (p.Ser549=) c.927C>A (n.927C>A) c.1755C>A (p.Ser585=) c.1077C>A (p.Ser359=) c.1662C>A (p.Ser554=) c.1531C>A (n.1531C>A) c.339C>A (p.Ser113=) c.912C>A (p.Ser304=) c.1590C>A (p.Ser530=) c.1713C>A (p.Ser571=) c.987C>A (p.Ser329=) c.1593C>A (p.Ser531=) n.2423+2501G>T n.1952C>A
10	g.18539568C=	CA1894173878	CACNB2,NSUN6	c.1683C= (p.Ser561=) c.1548C= (p.Ser516=) c.1671C= (p.Ser557=) c.1743C= (p.Ser581=) c.1827C= (p.Ser609=) c.1665C= (p.Ser555=) c.1452C= (p.Ser484=) c.1629C= (p.Ser543=) c.968C= (n.968C=) c.1569C= (p.Ser523=) c.1101C= (n.1101C=) c.1384C= (n.1384C=) c.1066C= (n.1066C=) c.1647C= (p.Ser549=) c.927C= (n.927C=) c.1755C= (p.Ser585=) c.1077C= (p.Ser359=) c.1662C= (p.Ser554=) c.1531C= (n.1531C=) c.339C= (p.Ser113=) c.912C= (p.Ser304=) c.1590C= (p.Ser530=) c.1713C= (p.Ser571=) c.987C= (p.Ser329=) c.1593C= (p.Ser531=) n.2423+2501G= n.1952C=
10	g.18539568C>G	CA468649604	CACNB2,NSUN6	c.1683C>G (p.Ser561=) c.1548C>G (p.Ser516=) c.1671C>G (p.Ser557=) c.1743C>G (p.Ser581=) c.1827C>G (p.Ser609=) c.1665C>G (p.Ser555=) c.1452C>G (p.Ser484=) c.1629C>G (p.Ser543=) c.968C>G (n.968C>G) c.1569C>G (p.Ser523=) c.1101C>G (n.1101C>G) c.1384C>G (n.1384C>G) c.1066C>G (n.1066C>G) c.1647C>G (p.Ser549=) c.927C>G (n.927C>G) c.1755C>G (p.Ser585=) c.1077C>G (p.Ser359=) c.1662C>G (p.Ser554=) c.1531C>G (n.1531C>G) c.339C>G (p.Ser113=) c.912C>G (p.Ser304=) c.1590C>G (p.Ser530=) c.1713C>G (p.Ser571=) c.987C>G (p.Ser329=) c.1593C>G (p.Ser531=) n.2423+2501G>C n.1952C>G
10	g.18539568C>T	CA203167355	CACNB2,NSUN6	c.1683C>T (p.Ser561=) c.1548C>T (p.Ser516=) c.1671C>T (p.Ser557=) c.1743C>T (p.Ser581=) c.1827C>T (p.Ser609=) c.1665C>T (p.Ser555=) c.1452C>T (p.Ser484=) c.1629C>T (p.Ser543=) c.968C>T (n.968C>T) c.1569C>T (p.Ser523=) c.1101C>T (n.1101C>T) c.1384C>T (n.1384C>T) c.1066C>T (n.1066C>T) c.1647C>T (p.Ser549=) c.927C>T (n.927C>T) c.1755C>T (p.Ser585=) c.1077C>T (p.Ser359=) c.1662C>T (p.Ser554=) c.1531C>T (n.1531C>T) c.339C>T (p.Ser113=) c.912C>T (p.Ser304=) c.1590C>T (p.Ser530=) c.1713C>T (p.Ser571=) c.987C>T (p.Ser329=) c.1593C>T (p.Ser531=) n.2423+2501G>A n.1952C>T	dbSNP gnomAD v3 gnomAD v4
10	g.18539569C>A	CA468649605	CACNB2,NSUN6	c.1684C>A (p.Arg562=) c.1549C>A (p.Arg517=) c.1672C>A (p.Arg558=) c.1744C>A (p.Arg582=) c.1828C>A (p.Arg610=) c.1666C>A (p.Arg556=) c.1453C>A (p.Arg485=) c.1630C>A (p.Arg544=) c.969C>A (n.969C>A) c.1570C>A (p.Arg524=) c.1102C>A (n.1102C>A) c.1385C>A (n.1385C>A) c.1067C>A (n.1067C>A) c.1648C>A (p.Arg550=) c.928C>A (n.928C>A) c.1756C>A (p.Arg586=) c.1078C>A (p.Arg360=) c.1663C>A (p.Arg555=) c.1532C>A (n.1532C>A) c.340C>A (p.Arg114=) c.913C>A (p.Arg305=) c.1591C>A (p.Arg531=) c.1714C>A (p.Arg572=) c.988C>A (p.Arg330=) c.1594C>A (p.Arg532=) n.2423+2500G>T n.1953C>A
10	g.18539569C=	CA1894173886	CACNB2,NSUN6	c.1684C= (p.Arg562=) c.1549C= (p.Arg517=) c.1672C= (p.Arg558=) c.1744C= (p.Arg582=) c.1828C= (p.Arg610=) c.1666C= (p.Arg556=) c.1453C= (p.Arg485=) c.1630C= (p.Arg544=) c.969C= (n.969C=) c.1570C= (p.Arg524=) c.1102C= (n.1102C=) c.1385C= (n.1385C=) c.1067C= (n.1067C=) c.1648C= (p.Arg550=) c.928C= (n.928C=) c.1756C= (p.Arg586=) c.1078C= (p.Arg360=) c.1663C= (p.Arg555=) c.1532C= (n.1532C=) c.340C= (p.Arg114=) c.913C= (p.Arg305=) c.1591C= (p.Arg531=) c.1714C= (p.Arg572=) c.988C= (p.Arg330=) c.1594C= (p.Arg532=) n.2423+2500G= n.1953C=
10	g.18539569C>G	CA376072479	CACNB2,NSUN6	c.1684C>G (p.Arg562Gly) c.1549C>G (p.Arg517Gly) c.1672C>G (p.Arg558Gly) c.1744C>G (p.Arg582Gly) c.1828C>G (p.Arg610Gly) c.1666C>G (p.Arg556Gly) c.1453C>G (p.Arg485Gly) c.1630C>G (p.Arg544Gly) c.969C>G (n.969C>G) c.1570C>G (p.Arg524Gly) c.1102C>G (n.1102C>G) c.1385C>G (n.1385C>G) c.1067C>G (n.1067C>G) c.1648C>G (p.Arg550Gly) c.928C>G (n.928C>G) c.1756C>G (p.Arg586Gly) c.1078C>G (p.Arg360Gly) c.1663C>G (p.Arg555Gly) c.1532C>G (n.1532C>G) c.340C>G (p.Arg114Gly) c.913C>G (p.Arg305Gly) c.1591C>G (p.Arg531Gly) c.1714C>G (p.Arg572Gly) c.988C>G (p.Arg330Gly) c.1594C>G (p.Arg532Gly) n.2423+2500G>C n.1953C>G
10	g.18539569C>T	CA16616914	CACNB2,NSUN6	c.1684C>T (p.Arg562Trp) c.1549C>T (p.Arg517Trp) c.1672C>T (p.Arg558Trp) c.1744C>T (p.Arg582Trp) c.1828C>T (p.Arg610Trp) c.1666C>T (p.Arg556Trp) c.1453C>T (p.Arg485Trp) c.1630C>T (p.Arg544Trp) c.969C>T (n.969C>T) c.1570C>T (p.Arg524Trp) c.1102C>T (n.1102C>T) c.1385C>T (n.1385C>T) c.1067C>T (n.1067C>T) c.1648C>T (p.Arg550Trp) c.928C>T (n.928C>T) c.1756C>T (p.Arg586Trp) c.1078C>T (p.Arg360Trp) c.1663C>T (p.Arg555Trp) c.1532C>T (n.1532C>T) c.340C>T (p.Arg114Trp) c.913C>T (p.Arg305Trp) c.1591C>T (p.Arg531Trp) c.1714C>T (p.Arg572Trp) c.988C>T (p.Arg330Trp) c.1594C>T (p.Arg532Trp) n.2423+2500G>A n.1953C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539570G>A	CA5430180	CACNB2,NSUN6	c.1685G>A (p.Arg562Gln) c.1550G>A (p.Arg517Gln) c.1673G>A (p.Arg558Gln) c.1745G>A (p.Arg582Gln) c.1829G>A (p.Arg610Gln) c.1667G>A (p.Arg556Gln) c.1454G>A (p.Arg485Gln) c.1631G>A (p.Arg544Gln) c.970G>A (n.970G>A) c.1571G>A (p.Arg524Gln) c.1103G>A (n.1103G>A) c.1386G>A (n.1386G>A) c.1068G>A (n.1068G>A) c.1649G>A (p.Arg550Gln) c.929G>A (n.929G>A) c.1757G>A (p.Arg586Gln) c.1079G>A (p.Arg360Gln) c.1664G>A (p.Arg555Gln) c.1533G>A (n.1533G>A) c.341G>A (p.Arg114Gln) c.914G>A (p.Arg305Gln) c.1592G>A (p.Arg531Gln) c.1715G>A (p.Arg572Gln) c.989G>A (p.Arg330Gln) c.1595G>A (p.Arg532Gln) n.2423+2499C>T n.1954G>A	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539570G>C	CA376072486	CACNB2,NSUN6	c.1685G>C (p.Arg562Pro) c.1550G>C (p.Arg517Pro) c.1673G>C (p.Arg558Pro) c.1745G>C (p.Arg582Pro) c.1829G>C (p.Arg610Pro) c.1667G>C (p.Arg556Pro) c.1454G>C (p.Arg485Pro) c.1631G>C (p.Arg544Pro) c.970G>C (n.970G>C) c.1571G>C (p.Arg524Pro) c.1103G>C (n.1103G>C) c.1386G>C (n.1386G>C) c.1068G>C (n.1068G>C) c.1649G>C (p.Arg550Pro) c.929G>C (n.929G>C) c.1757G>C (p.Arg586Pro) c.1079G>C (p.Arg360Pro) c.1664G>C (p.Arg555Pro) c.1533G>C (n.1533G>C) c.341G>C (p.Arg114Pro) c.914G>C (p.Arg305Pro) c.1592G>C (p.Arg531Pro) c.1715G>C (p.Arg572Pro) c.989G>C (p.Arg330Pro) c.1595G>C (p.Arg532Pro) n.2423+2499C>G n.1954G>C	dbSNP gnomAD v3 gnomAD v4
10	g.18539570G=	CA1894173898	CACNB2,NSUN6	c.1685G= (p.Arg562=) c.1550G= (p.Arg517=) c.1673G= (p.Arg558=) c.1745G= (p.Arg582=) c.1829G= (p.Arg610=) c.1667G= (p.Arg556=) c.1454G= (p.Arg485=) c.1631G= (p.Arg544=) c.970G= (n.970G=) c.1571G= (p.Arg524=) c.1103G= (n.1103G=) c.1386G= (n.1386G=) c.1068G= (n.1068G=) c.1649G= (p.Arg550=) c.929G= (n.929G=) c.1757G= (p.Arg586=) c.1079G= (p.Arg360=) c.1664G= (p.Arg555=) c.1533G= (n.1533G=) c.341G= (p.Arg114=) c.914G= (p.Arg305=) c.1592G= (p.Arg531=) c.1715G= (p.Arg572=) c.989G= (p.Arg330=) c.1595G= (p.Arg532=) n.2423+2499C= n.1954G=
10	g.18539570G>T	CA376072488	CACNB2,NSUN6	c.1685G>T (p.Arg562Leu) c.1550G>T (p.Arg517Leu) c.1673G>T (p.Arg558Leu) c.1745G>T (p.Arg582Leu) c.1829G>T (p.Arg610Leu) c.1667G>T (p.Arg556Leu) c.1454G>T (p.Arg485Leu) c.1631G>T (p.Arg544Leu) c.970G>T (n.970G>T) c.1571G>T (p.Arg524Leu) c.1103G>T (n.1103G>T) c.1386G>T (n.1386G>T) c.1068G>T (n.1068G>T) c.1649G>T (p.Arg550Leu) c.929G>T (n.929G>T) c.1757G>T (p.Arg586Leu) c.1079G>T (p.Arg360Leu) c.1664G>T (p.Arg555Leu) c.1533G>T (n.1533G>T) c.341G>T (p.Arg114Leu) c.914G>T (p.Arg305Leu) c.1592G>T (p.Arg531Leu) c.1715G>T (p.Arg572Leu) c.989G>T (p.Arg330Leu) c.1595G>T (p.Arg532Leu) n.2423+2499C>A n.1954G>T
10	g.18539572del	CA2608435661	CACNB2,NSUN6	c.1687del (p.Asp563ThrfsTer?) c.1552del (p.Asp518ThrfsTer?) c.1675del (p.Asp559ThrfsTer?) c.1747del (p.Asp583ThrfsTer?) c.1831del (p.Asp611ThrfsTer?) c.1669del (p.Asp557ThrfsTer?) c.1456del (p.Asp486ThrfsTer?) c.1633del (p.Asp545ThrfsTer?) c.972del (n.972del) c.1573del (p.Asp525ThrfsTer?) c.1105del (n.1105del) c.1388del (n.1388del) c.1070del (n.1070del) c.1651del (p.Asp551ThrfsTer?) c.931del (n.931del) c.1759del (p.Asp587ThrfsTer?) c.1081del (p.Asp361ThrfsTer?) c.1666del (p.Asp556ThrfsTer?) c.1535del (n.1535del) c.343del (p.Asp115ThrfsTer?) c.916del (p.Asp306ThrfsTer?) c.1594del (p.Asp532ThrfsTer?) c.1717del (p.Asp573ThrfsTer?) c.991del (p.Asp331ThrfsTer?) c.1597del (p.Asp533ThrfsTer?) n.2423+2499del n.1956del	gnomAD v4
10	g.18539571G>A	CA468649607	CACNB2,NSUN6	c.1686G>A (p.Arg562=) c.1551G>A (p.Arg517=) c.1674G>A (p.Arg558=) c.1746G>A (p.Arg582=) c.1830G>A (p.Arg610=) c.1668G>A (p.Arg556=) c.1455G>A (p.Arg485=) c.1632G>A (p.Arg544=) c.971G>A (n.971G>A) c.1572G>A (p.Arg524=) c.1104G>A (n.1104G>A) c.1387G>A (n.1387G>A) c.1069G>A (n.1069G>A) c.1650G>A (p.Arg550=) c.930G>A (n.930G>A) c.1758G>A (p.Arg586=) c.1080G>A (p.Arg360=) c.1665G>A (p.Arg555=) c.1534G>A (n.1534G>A) c.342G>A (p.Arg114=) c.915G>A (p.Arg305=) c.1593G>A (p.Arg531=) c.1716G>A (p.Arg572=) c.990G>A (p.Arg330=) c.1596G>A (p.Arg532=) n.2423+2498C>T n.1955G>A
10	g.18539571G>C	CA468649609	CACNB2,NSUN6	c.1686G>C (p.Arg562=) c.1551G>C (p.Arg517=) c.1674G>C (p.Arg558=) c.1746G>C (p.Arg582=) c.1830G>C (p.Arg610=) c.1668G>C (p.Arg556=) c.1455G>C (p.Arg485=) c.1632G>C (p.Arg544=) c.971G>C (n.971G>C) c.1572G>C (p.Arg524=) c.1104G>C (n.1104G>C) c.1387G>C (n.1387G>C) c.1069G>C (n.1069G>C) c.1650G>C (p.Arg550=) c.930G>C (n.930G>C) c.1758G>C (p.Arg586=) c.1080G>C (p.Arg360=) c.1665G>C (p.Arg555=) c.1534G>C (n.1534G>C) c.342G>C (p.Arg114=) c.915G>C (p.Arg305=) c.1593G>C (p.Arg531=) c.1716G>C (p.Arg572=) c.990G>C (p.Arg330=) c.1596G>C (p.Arg532=) n.2423+2498C>G n.1955G>C
10	g.18539571G>T	CA468649611	CACNB2,NSUN6	c.1686G>T (p.Arg562=) c.1551G>T (p.Arg517=) c.1674G>T (p.Arg558=) c.1746G>T (p.Arg582=) c.1830G>T (p.Arg610=) c.1668G>T (p.Arg556=) c.1455G>T (p.Arg485=) c.1632G>T (p.Arg544=) c.971G>T (n.971G>T) c.1572G>T (p.Arg524=) c.1104G>T (n.1104G>T) c.1387G>T (n.1387G>T) c.1069G>T (n.1069G>T) c.1650G>T (p.Arg550=) c.930G>T (n.930G>T) c.1758G>T (p.Arg586=) c.1080G>T (p.Arg360=) c.1665G>T (p.Arg555=) c.1534G>T (n.1534G>T) c.342G>T (p.Arg114=) c.915G>T (p.Arg305=) c.1593G>T (p.Arg531=) c.1716G>T (p.Arg572=) c.990G>T (p.Arg330=) c.1596G>T (p.Arg532=) n.2423+2498C>A n.1955G>T
10	g.18539574_18539579dup	CA592060477	CACNB2,NSUN6	c.1689_1694dup (p.Asp565_Arg566insValAsp) c.1554_1559dup (p.Asp520_Arg521insValAsp) c.1677_1682dup (p.Asp561_Arg562insValAsp) c.1749_1754dup (p.Asp585_Arg586insValAsp) c.1833_1838dup (p.Asp613_Arg614insValAsp) c.1671_1676dup (p.Asp559_Arg560insValAsp) c.1458_1463dup (p.Asp488_Arg489insValAsp) c.1635_1640dup (p.Asp547_Arg548insValAsp) c.974_979dup (n.974_979dup) c.1575_1580dup (p.Asp527_Arg528insValAsp) c.1107_1112dup (n.1107_1112dup) c.1390_1395dup (n.1390_1395dup) c.1072_1077dup (n.1072_1077dup) c.1653_1658dup (p.Asp553_Arg554insValAsp) c.933_938dup (n.933_938dup) c.1761_1766dup (p.Asp589_Arg590insValAsp) c.1083_1088dup (p.Asp363_Arg364insValAsp) c.1668_1673dup (p.Asp558_Arg559insValAsp) c.1537_1542dup (n.1537_1542dup) c.345_350dup (p.Asp117_Arg118insValAsp) c.918_923dup (p.Asp308_Arg309insValAsp) c.1596_1601dup (p.Asp534_Arg535insValAsp) c.1719_1724dup (p.Asp575_Arg576insValAsp) c.993_998dup (p.Asp333_Arg334insValAsp) c.1599_1604dup (p.Asp535_Arg536insValAsp) n.2423+2493_2423+2498dup n.1958_1963dup	ClinVar dbSNP gnomAD v2 gnomAD v4
10	g.18539572G>A	CA376072490	CACNB2,NSUN6	c.1687G>A (p.Asp563Asn) c.1552G>A (p.Asp518Asn) c.1675G>A (p.Asp559Asn) c.1747G>A (p.Asp583Asn) c.1831G>A (p.Asp611Asn) c.1669G>A (p.Asp557Asn) c.1456G>A (p.Asp486Asn) c.1633G>A (p.Asp545Asn) c.972G>A (n.972G>A) c.1573G>A (p.Asp525Asn) c.1105G>A (n.1105G>A) c.1388G>A (n.1388G>A) c.1070G>A (n.1070G>A) c.1651G>A (p.Asp551Asn) c.931G>A (n.931G>A) c.1759G>A (p.Asp587Asn) c.1081G>A (p.Asp361Asn) c.1666G>A (p.Asp556Asn) c.1535G>A (n.1535G>A) c.343G>A (p.Asp115Asn) c.916G>A (p.Asp306Asn) c.1594G>A (p.Asp532Asn) c.1717G>A (p.Asp573Asn) c.991G>A (p.Asp331Asn) c.1597G>A (p.Asp533Asn) n.2423+2497C>T n.1956G>A	ClinVar dbSNP gnomAD v2
10	g.18539572G>C	CA376072496	CACNB2,NSUN6	c.1687G>C (p.Asp563His) c.1552G>C (p.Asp518His) c.1675G>C (p.Asp559His) c.1747G>C (p.Asp583His) c.1831G>C (p.Asp611His) c.1669G>C (p.Asp557His) c.1456G>C (p.Asp486His) c.1633G>C (p.Asp545His) c.972G>C (n.972G>C) c.1573G>C (p.Asp525His) c.1105G>C (n.1105G>C) c.1388G>C (n.1388G>C) c.1070G>C (n.1070G>C) c.1651G>C (p.Asp551His) c.931G>C (n.931G>C) c.1759G>C (p.Asp587His) c.1081G>C (p.Asp361His) c.1666G>C (p.Asp556His) c.1535G>C (n.1535G>C) c.343G>C (p.Asp115His) c.916G>C (p.Asp306His) c.1594G>C (p.Asp532His) c.1717G>C (p.Asp573His) c.991G>C (p.Asp331His) c.1597G>C (p.Asp533His) n.2423+2497C>G n.1956G>C	gnomAD v4
10	g.18539572G=	CA1894173905	CACNB2,NSUN6	c.1687G= (p.Asp563=) c.1552G= (p.Asp518=) c.1675G= (p.Asp559=) c.1747G= (p.Asp583=) c.1831G= (p.Asp611=) c.1669G= (p.Asp557=) c.1456G= (p.Asp486=) c.1633G= (p.Asp545=) c.972G= (n.972G=) c.1573G= (p.Asp525=) c.1105G= (n.1105G=) c.1388G= (n.1388G=) c.1070G= (n.1070G=) c.1651G= (p.Asp551=) c.931G= (n.931G=) c.1759G= (p.Asp587=) c.1081G= (p.Asp361=) c.1666G= (p.Asp556=) c.1535G= (n.1535G=) c.343G= (p.Asp115=) c.916G= (p.Asp306=) c.1594G= (p.Asp532=) c.1717G= (p.Asp573=) c.991G= (p.Asp331=) c.1597G= (p.Asp533=) n.2423+2497C= n.1956G=
10	g.18539572G>T	CA376072493	CACNB2,NSUN6	c.1687G>T (p.Asp563Tyr) c.1552G>T (p.Asp518Tyr) c.1675G>T (p.Asp559Tyr) c.1747G>T (p.Asp583Tyr) c.1831G>T (p.Asp611Tyr) c.1669G>T (p.Asp557Tyr) c.1456G>T (p.Asp486Tyr) c.1633G>T (p.Asp545Tyr) c.972G>T (n.972G>T) c.1573G>T (p.Asp525Tyr) c.1105G>T (n.1105G>T) c.1388G>T (n.1388G>T) c.1070G>T (n.1070G>T) c.1651G>T (p.Asp551Tyr) c.931G>T (n.931G>T) c.1759G>T (p.Asp587Tyr) c.1081G>T (p.Asp361Tyr) c.1666G>T (p.Asp556Tyr) c.1535G>T (n.1535G>T) c.343G>T (p.Asp115Tyr) c.916G>T (p.Asp306Tyr) c.1594G>T (p.Asp532Tyr) c.1717G>T (p.Asp573Tyr) c.991G>T (p.Asp331Tyr) c.1597G>T (p.Asp533Tyr) n.2423+2497C>A n.1956G>T
10	g.18539573A>C	CA376072499	CACNB2,NSUN6	c.1688A>C (p.Asp563Ala) c.1553A>C (p.Asp518Ala) c.1676A>C (p.Asp559Ala) c.1748A>C (p.Asp583Ala) c.1832A>C (p.Asp611Ala) c.1670A>C (p.Asp557Ala) c.1457A>C (p.Asp486Ala) c.1634A>C (p.Asp545Ala) c.973A>C (n.973A>C) c.1574A>C (p.Asp525Ala) c.1106A>C (n.1106A>C) c.1389A>C (n.1389A>C) c.1071A>C (n.1071A>C) c.1652A>C (p.Asp551Ala) c.932A>C (n.932A>C) c.1760A>C (p.Asp587Ala) c.1082A>C (p.Asp361Ala) c.1667A>C (p.Asp556Ala) c.1536A>C (n.1536A>C) c.344A>C (p.Asp115Ala) c.917A>C (p.Asp306Ala) c.1595A>C (p.Asp532Ala) c.1718A>C (p.Asp573Ala) c.992A>C (p.Asp331Ala) c.1598A>C (p.Asp533Ala) n.2423+2496T>G n.1957A>C
10	g.18539573A>G	CA376072500	CACNB2,NSUN6	c.1688A>G (p.Asp563Gly) c.1553A>G (p.Asp518Gly) c.1676A>G (p.Asp559Gly) c.1748A>G (p.Asp583Gly) c.1832A>G (p.Asp611Gly) c.1670A>G (p.Asp557Gly) c.1457A>G (p.Asp486Gly) c.1634A>G (p.Asp545Gly) c.973A>G (n.973A>G) c.1574A>G (p.Asp525Gly) c.1106A>G (n.1106A>G) c.1389A>G (n.1389A>G) c.1071A>G (n.1071A>G) c.1652A>G (p.Asp551Gly) c.932A>G (n.932A>G) c.1760A>G (p.Asp587Gly) c.1082A>G (p.Asp361Gly) c.1667A>G (p.Asp556Gly) c.1536A>G (n.1536A>G) c.344A>G (p.Asp115Gly) c.917A>G (p.Asp306Gly) c.1595A>G (p.Asp532Gly) c.1718A>G (p.Asp573Gly) c.992A>G (p.Asp331Gly) c.1598A>G (p.Asp533Gly) n.2423+2496T>C n.1957A>G	gnomAD v4
10	g.18539573A>T	CA376072503	CACNB2,NSUN6	c.1688A>T (p.Asp563Val) c.1553A>T (p.Asp518Val) c.1676A>T (p.Asp559Val) c.1748A>T (p.Asp583Val) c.1832A>T (p.Asp611Val) c.1670A>T (p.Asp557Val) c.1457A>T (p.Asp486Val) c.1634A>T (p.Asp545Val) c.973A>T (n.973A>T) c.1574A>T (p.Asp525Val) c.1106A>T (n.1106A>T) c.1389A>T (n.1389A>T) c.1071A>T (n.1071A>T) c.1652A>T (p.Asp551Val) c.932A>T (n.932A>T) c.1760A>T (p.Asp587Val) c.1082A>T (p.Asp361Val) c.1667A>T (p.Asp556Val) c.1536A>T (n.1536A>T) c.344A>T (p.Asp115Val) c.917A>T (p.Asp306Val) c.1595A>T (p.Asp532Val) c.1718A>T (p.Asp573Val) c.992A>T (p.Asp331Val) c.1598A>T (p.Asp533Val) n.2423+2496T>A n.1957A>T
10	g.18539576_18539599dup	CA2608435667	CACNB2,NSUN6	c.1691_1714dup (p.Asn571_Glu572insValAspArgGluGlnAspHisAsn) c.1556_1579dup (p.Asn526_Glu527insValAspArgGluGlnAspHisAsn) c.1679_1702dup (p.Asn567_Glu568insValAspArgGluGlnAspHisAsn) c.1751_1774dup (p.Asn591_Glu592insValAspArgGluGlnAspHisAsn) c.1835_1858dup (p.Asn619_Glu620insValAspArgGluGlnAspHisAsn) c.1673_1696dup (p.Asn565_Glu566insValAspArgGluGlnAspHisAsn) c.1460_1483dup (p.Asn494_Glu495insValAspArgGluGlnAspHisAsn) c.1637_1660dup (p.Asn553_Glu554insValAspArgGluGlnAspHisAsn) c.976_999dup (n.976_999dup) c.1577_1600dup (p.Asn533_Glu534insValAspArgGluGlnAspHisAsn) c.1109_1132dup (n.1109_1132dup) c.1392_1415dup (n.1392_1415dup) c.1074_1097dup (n.1074_1097dup) c.1655_1678dup (p.Asn559_Glu560insValAspArgGluGlnAspHisAsn) c.935_958dup (n.935_958dup) c.1763_1786dup (p.Asn595_Glu596insValAspArgGluGlnAspHisAsn) c.1085_1108dup (p.Asn369_Glu370insValAspArgGluGlnAspHisAsn) c.1670_1693dup (p.Asn564_Glu565insValAspArgGluGlnAspHisAsn) c.1539_1562dup (n.1539_1562dup) c.347_370dup (p.Asn123_Glu124insValAspArgGluGlnAspHisAsn) c.920_943dup (p.Asn314_Glu315insValAspArgGluGlnAspHisAsn) c.1598_1621dup (p.Asn540_Glu541insValAspArgGluGlnAspHisAsn) c.1721_1744dup (p.Asn581_Glu582insValAspArgGluGlnAspHisAsn) c.995_1018dup (p.Asn339_Glu340insValAspArgGluGlnAspHisAsn) c.1601_1624dup (p.Asn541_Glu542insValAspArgGluGlnAspHisAsn) n.2423+2473_2423+2496dup n.1960_1983dup	gnomAD v4
10	g.18539574C>A	CA376072506	CACNB2,NSUN6	c.1689C>A (p.Asp563Glu) c.1554C>A (p.Asp518Glu) c.1677C>A (p.Asp559Glu) c.1749C>A (p.Asp583Glu) c.1833C>A (p.Asp611Glu) c.1671C>A (p.Asp557Glu) c.1458C>A (p.Asp486Glu) c.1635C>A (p.Asp545Glu) c.974C>A (n.974C>A) c.1575C>A (p.Asp525Glu) c.1107C>A (n.1107C>A) c.1390C>A (n.1390C>A) c.1072C>A (n.1072C>A) c.1653C>A (p.Asp551Glu) c.933C>A (n.933C>A) c.1761C>A (p.Asp587Glu) c.1083C>A (p.Asp361Glu) c.1668C>A (p.Asp556Glu) c.1537C>A (n.1537C>A) c.345C>A (p.Asp115Glu) c.918C>A (p.Asp306Glu) c.1596C>A (p.Asp532Glu) c.1719C>A (p.Asp573Glu) c.993C>A (p.Asp331Glu) c.1599C>A (p.Asp533Glu) n.2423+2495G>T n.1958C>A
10	g.18539574C=	CA1894173911	CACNB2,NSUN6	c.1689C= (p.Asp563=) c.1554C= (p.Asp518=) c.1677C= (p.Asp559=) c.1749C= (p.Asp583=) c.1833C= (p.Asp611=) c.1671C= (p.Asp557=) c.1458C= (p.Asp486=) c.1635C= (p.Asp545=) c.974C= (n.974C=) c.1575C= (p.Asp525=) c.1107C= (n.1107C=) c.1390C= (n.1390C=) c.1072C= (n.1072C=) c.1653C= (p.Asp551=) c.933C= (n.933C=) c.1761C= (p.Asp587=) c.1083C= (p.Asp361=) c.1668C= (p.Asp556=) c.1537C= (n.1537C=) c.345C= (p.Asp115=) c.918C= (p.Asp306=) c.1596C= (p.Asp532=) c.1719C= (p.Asp573=) c.993C= (p.Asp331=) c.1599C= (p.Asp533=) n.2423+2495G= n.1958C=
10	g.18539574C>G	CA376072508	CACNB2,NSUN6	c.1689C>G (p.Asp563Glu) c.1554C>G (p.Asp518Glu) c.1677C>G (p.Asp559Glu) c.1749C>G (p.Asp583Glu) c.1833C>G (p.Asp611Glu) c.1671C>G (p.Asp557Glu) c.1458C>G (p.Asp486Glu) c.1635C>G (p.Asp545Glu) c.974C>G (n.974C>G) c.1575C>G (p.Asp525Glu) c.1107C>G (n.1107C>G) c.1390C>G (n.1390C>G) c.1072C>G (n.1072C>G) c.1653C>G (p.Asp551Glu) c.933C>G (n.933C>G) c.1761C>G (p.Asp587Glu) c.1083C>G (p.Asp361Glu) c.1668C>G (p.Asp556Glu) c.1537C>G (n.1537C>G) c.345C>G (p.Asp115Glu) c.918C>G (p.Asp306Glu) c.1596C>G (p.Asp532Glu) c.1719C>G (p.Asp573Glu) c.993C>G (p.Asp331Glu) c.1599C>G (p.Asp533Glu) n.2423+2495G>C n.1958C>G	ClinVar
10	g.18539574C>T	CA5430181	CACNB2,NSUN6	c.1689C>T (p.Asp563=) c.1554C>T (p.Asp518=) c.1677C>T (p.Asp559=) c.1749C>T (p.Asp583=) c.1833C>T (p.Asp611=) c.1671C>T (p.Asp557=) c.1458C>T (p.Asp486=) c.1635C>T (p.Asp545=) c.974C>T (n.974C>T) c.1575C>T (p.Asp525=) c.1107C>T (n.1107C>T) c.1390C>T (n.1390C>T) c.1072C>T (n.1072C>T) c.1653C>T (p.Asp551=) c.933C>T (n.933C>T) c.1761C>T (p.Asp587=) c.1083C>T (p.Asp361=) c.1668C>T (p.Asp556=) c.1537C>T (n.1537C>T) c.345C>T (p.Asp115=) c.918C>T (p.Asp306=) c.1596C>T (p.Asp532=) c.1719C>T (p.Asp573=) c.993C>T (p.Asp331=) c.1599C>T (p.Asp533=) n.2423+2495G>A n.1958C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539575G>A	CA376072512	CACNB2,NSUN6	c.1690G>A (p.Val564Met) c.1555G>A (p.Val519Met) c.1678G>A (p.Val560Met) c.1750G>A (p.Val584Met) c.1834G>A (p.Val612Met) c.1672G>A (p.Val558Met) c.1459G>A (p.Val487Met) c.1636G>A (p.Val546Met) c.975G>A (n.975G>A) c.1576G>A (p.Val526Met) c.1108G>A (n.1108G>A) c.1391G>A (n.1391G>A) c.1073G>A (n.1073G>A) c.1654G>A (p.Val552Met) c.934G>A (n.934G>A) c.1762G>A (p.Val588Met) c.1084G>A (p.Val362Met) c.1669G>A (p.Val557Met) c.1538G>A (n.1538G>A) c.346G>A (p.Val116Met) c.919G>A (p.Val307Met) c.1597G>A (p.Val533Met) c.1720G>A (p.Val574Met) c.994G>A (p.Val332Met) c.1600G>A (p.Val534Met) n.2423+2494C>T n.1959G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539575G>C	CA376072515	CACNB2,NSUN6	c.1690G>C (p.Val564Leu) c.1555G>C (p.Val519Leu) c.1678G>C (p.Val560Leu) c.1750G>C (p.Val584Leu) c.1834G>C (p.Val612Leu) c.1672G>C (p.Val558Leu) c.1459G>C (p.Val487Leu) c.1636G>C (p.Val546Leu) c.975G>C (n.975G>C) c.1576G>C (p.Val526Leu) c.1108G>C (n.1108G>C) c.1391G>C (n.1391G>C) c.1073G>C (n.1073G>C) c.1654G>C (p.Val552Leu) c.934G>C (n.934G>C) c.1762G>C (p.Val588Leu) c.1084G>C (p.Val362Leu) c.1669G>C (p.Val557Leu) c.1538G>C (n.1538G>C) c.346G>C (p.Val116Leu) c.919G>C (p.Val307Leu) c.1597G>C (p.Val533Leu) c.1720G>C (p.Val574Leu) c.994G>C (p.Val332Leu) c.1600G>C (p.Val534Leu) n.2423+2494C>G n.1959G>C
10	g.18539575G=	CA1894173921	CACNB2,NSUN6	c.1690G= (p.Val564=) c.1555G= (p.Val519=) c.1678G= (p.Val560=) c.1750G= (p.Val584=) c.1834G= (p.Val612=) c.1672G= (p.Val558=) c.1459G= (p.Val487=) c.1636G= (p.Val546=) c.975G= (n.975G=) c.1576G= (p.Val526=) c.1108G= (n.1108G=) c.1391G= (n.1391G=) c.1073G= (n.1073G=) c.1654G= (p.Val552=) c.934G= (n.934G=) c.1762G= (p.Val588=) c.1084G= (p.Val362=) c.1669G= (p.Val557=) c.1538G= (n.1538G=) c.346G= (p.Val116=) c.919G= (p.Val307=) c.1597G= (p.Val533=) c.1720G= (p.Val574=) c.994G= (p.Val332=) c.1600G= (p.Val534=) n.2423+2494C= n.1959G=
10	g.18539575G>T	CA376072517	CACNB2,NSUN6	c.1690G>T (p.Val564Leu) c.1555G>T (p.Val519Leu) c.1678G>T (p.Val560Leu) c.1750G>T (p.Val584Leu) c.1834G>T (p.Val612Leu) c.1672G>T (p.Val558Leu) c.1459G>T (p.Val487Leu) c.1636G>T (p.Val546Leu) c.975G>T (n.975G>T) c.1576G>T (p.Val526Leu) c.1108G>T (n.1108G>T) c.1391G>T (n.1391G>T) c.1073G>T (n.1073G>T) c.1654G>T (p.Val552Leu) c.934G>T (n.934G>T) c.1762G>T (p.Val588Leu) c.1084G>T (p.Val362Leu) c.1669G>T (p.Val557Leu) c.1538G>T (n.1538G>T) c.346G>T (p.Val116Leu) c.919G>T (p.Val307Leu) c.1597G>T (p.Val533Leu) c.1720G>T (p.Val574Leu) c.994G>T (p.Val332Leu) c.1600G>T (p.Val534Leu) n.2423+2494C>A n.1959G>T
10	g.18539576T>A	CA376072519	CACNB2,NSUN6	c.1691T>A (p.Val564Glu) c.1556T>A (p.Val519Glu) c.1679T>A (p.Val560Glu) c.1751T>A (p.Val584Glu) c.1835T>A (p.Val612Glu) c.1673T>A (p.Val558Glu) c.1460T>A (p.Val487Glu) c.1637T>A (p.Val546Glu) c.976T>A (n.976T>A) c.1577T>A (p.Val526Glu) c.1109T>A (n.1109T>A) c.1392T>A (n.1392T>A) c.1074T>A (n.1074T>A) c.1655T>A (p.Val552Glu) c.935T>A (n.935T>A) c.1763T>A (p.Val588Glu) c.1085T>A (p.Val362Glu) c.1670T>A (p.Val557Glu) c.1539T>A (n.1539T>A) c.347T>A (p.Val116Glu) c.920T>A (p.Val307Glu) c.1598T>A (p.Val533Glu) c.1721T>A (p.Val574Glu) c.995T>A (p.Val332Glu) c.1601T>A (p.Val534Glu) n.2423+2493A>T n.1960T>A
10	g.18539576T>C	CA376072521	CACNB2,NSUN6	c.1691T>C (p.Val564Ala) c.1556T>C (p.Val519Ala) c.1679T>C (p.Val560Ala) c.1751T>C (p.Val584Ala) c.1835T>C (p.Val612Ala) c.1673T>C (p.Val558Ala) c.1460T>C (p.Val487Ala) c.1637T>C (p.Val546Ala) c.976T>C (n.976T>C) c.1577T>C (p.Val526Ala) c.1109T>C (n.1109T>C) c.1392T>C (n.1392T>C) c.1074T>C (n.1074T>C) c.1655T>C (p.Val552Ala) c.935T>C (n.935T>C) c.1763T>C (p.Val588Ala) c.1085T>C (p.Val362Ala) c.1670T>C (p.Val557Ala) c.1539T>C (n.1539T>C) c.347T>C (p.Val116Ala) c.920T>C (p.Val307Ala) c.1598T>C (p.Val533Ala) c.1721T>C (p.Val574Ala) c.995T>C (p.Val332Ala) c.1601T>C (p.Val534Ala) n.2423+2493A>G n.1960T>C
10	g.18539576T>G	CA376072524	CACNB2,NSUN6	c.1691T>G (p.Val564Gly) c.1556T>G (p.Val519Gly) c.1679T>G (p.Val560Gly) c.1751T>G (p.Val584Gly) c.1835T>G (p.Val612Gly) c.1673T>G (p.Val558Gly) c.1460T>G (p.Val487Gly) c.1637T>G (p.Val546Gly) c.976T>G (n.976T>G) c.1577T>G (p.Val526Gly) c.1109T>G (n.1109T>G) c.1392T>G (n.1392T>G) c.1074T>G (n.1074T>G) c.1655T>G (p.Val552Gly) c.935T>G (n.935T>G) c.1763T>G (p.Val588Gly) c.1085T>G (p.Val362Gly) c.1670T>G (p.Val557Gly) c.1539T>G (n.1539T>G) c.347T>G (p.Val116Gly) c.920T>G (p.Val307Gly) c.1598T>G (p.Val533Gly) c.1721T>G (p.Val574Gly) c.995T>G (p.Val332Gly) c.1601T>G (p.Val534Gly) n.2423+2493A>C n.1960T>G
10	g.18539577G>A	CA468649622	CACNB2,NSUN6	c.1692G>A (p.Val564=) c.1557G>A (p.Val519=) c.1680G>A (p.Val560=) c.1752G>A (p.Val584=) c.1836G>A (p.Val612=) c.1674G>A (p.Val558=) c.1461G>A (p.Val487=) c.1638G>A (p.Val546=) c.977G>A (n.977G>A) c.1578G>A (p.Val526=) c.1110G>A (n.1110G>A) c.1393G>A (n.1393G>A) c.1075G>A (n.1075G>A) c.1656G>A (p.Val552=) c.936G>A (n.936G>A) c.1764G>A (p.Val588=) c.1086G>A (p.Val362=) c.1671G>A (p.Val557=) c.1540G>A (n.1540G>A) c.348G>A (p.Val116=) c.921G>A (p.Val307=) c.1599G>A (p.Val533=) c.1722G>A (p.Val574=) c.996G>A (p.Val332=) c.1602G>A (p.Val534=) n.2423+2492C>T n.1961G>A
10	g.18539577G>C	CA468649620	CACNB2,NSUN6	c.1692G>C (p.Val564=) c.1557G>C (p.Val519=) c.1680G>C (p.Val560=) c.1752G>C (p.Val584=) c.1836G>C (p.Val612=) c.1674G>C (p.Val558=) c.1461G>C (p.Val487=) c.1638G>C (p.Val546=) c.977G>C (n.977G>C) c.1578G>C (p.Val526=) c.1110G>C (n.1110G>C) c.1393G>C (n.1393G>C) c.1075G>C (n.1075G>C) c.1656G>C (p.Val552=) c.936G>C (n.936G>C) c.1764G>C (p.Val588=) c.1086G>C (p.Val362=) c.1671G>C (p.Val557=) c.1540G>C (n.1540G>C) c.348G>C (p.Val116=) c.921G>C (p.Val307=) c.1599G>C (p.Val533=) c.1722G>C (p.Val574=) c.996G>C (p.Val332=) c.1602G>C (p.Val534=) n.2423+2492C>G n.1961G>C	dbSNP gnomAD v2 gnomAD v4
10	g.18539577G=	CA1894173924	CACNB2,NSUN6	c.1692G= (p.Val564=) c.1557G= (p.Val519=) c.1680G= (p.Val560=) c.1752G= (p.Val584=) c.1836G= (p.Val612=) c.1674G= (p.Val558=) c.1461G= (p.Val487=) c.1638G= (p.Val546=) c.977G= (n.977G=) c.1578G= (p.Val526=) c.1110G= (n.1110G=) c.1393G= (n.1393G=) c.1075G= (n.1075G=) c.1656G= (p.Val552=) c.936G= (n.936G=) c.1764G= (p.Val588=) c.1086G= (p.Val362=) c.1671G= (p.Val557=) c.1540G= (n.1540G=) c.348G= (p.Val116=) c.921G= (p.Val307=) c.1599G= (p.Val533=) c.1722G= (p.Val574=) c.996G= (p.Val332=) c.1602G= (p.Val534=) n.2423+2492C= n.1961G=
10	g.18539577G>T	CA468649618	CACNB2,NSUN6	c.1692G>T (p.Val564=) c.1557G>T (p.Val519=) c.1680G>T (p.Val560=) c.1752G>T (p.Val584=) c.1836G>T (p.Val612=) c.1674G>T (p.Val558=) c.1461G>T (p.Val487=) c.1638G>T (p.Val546=) c.977G>T (n.977G>T) c.1578G>T (p.Val526=) c.1110G>T (n.1110G>T) c.1393G>T (n.1393G>T) c.1075G>T (n.1075G>T) c.1656G>T (p.Val552=) c.936G>T (n.936G>T) c.1764G>T (p.Val588=) c.1086G>T (p.Val362=) c.1671G>T (p.Val557=) c.1540G>T (n.1540G>T) c.348G>T (p.Val116=) c.921G>T (p.Val307=) c.1599G>T (p.Val533=) c.1722G>T (p.Val574=) c.996G>T (p.Val332=) c.1602G>T (p.Val534=) n.2423+2492C>A n.1961G>T
10	g.18539578G>A	CA376072530	CACNB2,NSUN6	c.1693G>A (p.Asp565Asn) c.1558G>A (p.Asp520Asn) c.1681G>A (p.Asp561Asn) c.1753G>A (p.Asp585Asn) c.1837G>A (p.Asp613Asn) c.1675G>A (p.Asp559Asn) c.1462G>A (p.Asp488Asn) c.1639G>A (p.Asp547Asn) c.978G>A (n.978G>A) c.1579G>A (p.Asp527Asn) c.1111G>A (n.1111G>A) c.1394G>A (n.1394G>A) c.1076G>A (n.1076G>A) c.1657G>A (p.Asp553Asn) c.937G>A (n.937G>A) c.1765G>A (p.Asp589Asn) c.1087G>A (p.Asp363Asn) c.1672G>A (p.Asp558Asn) c.1541G>A (n.1541G>A) c.349G>A (p.Asp117Asn) c.922G>A (p.Asp308Asn) c.1600G>A (p.Asp534Asn) c.1723G>A (p.Asp575Asn) c.997G>A (p.Asp333Asn) c.1603G>A (p.Asp535Asn) n.2423+2491C>T n.1962G>A
10	g.18539578G>C	CA376072529	CACNB2,NSUN6	c.1693G>C (p.Asp565His) c.1558G>C (p.Asp520His) c.1681G>C (p.Asp561His) c.1753G>C (p.Asp585His) c.1837G>C (p.Asp613His) c.1675G>C (p.Asp559His) c.1462G>C (p.Asp488His) c.1639G>C (p.Asp547His) c.978G>C (n.978G>C) c.1579G>C (p.Asp527His) c.1111G>C (n.1111G>C) c.1394G>C (n.1394G>C) c.1076G>C (n.1076G>C) c.1657G>C (p.Asp553His) c.937G>C (n.937G>C) c.1765G>C (p.Asp589His) c.1087G>C (p.Asp363His) c.1672G>C (p.Asp558His) c.1541G>C (n.1541G>C) c.349G>C (p.Asp117His) c.922G>C (p.Asp308His) c.1600G>C (p.Asp534His) c.1723G>C (p.Asp575His) c.997G>C (p.Asp333His) c.1603G>C (p.Asp535His) n.2423+2491C>G n.1962G>C
10	g.18539578G>T	CA376072526	CACNB2,NSUN6	c.1693G>T (p.Asp565Tyr) c.1558G>T (p.Asp520Tyr) c.1681G>T (p.Asp561Tyr) c.1753G>T (p.Asp585Tyr) c.1837G>T (p.Asp613Tyr) c.1675G>T (p.Asp559Tyr) c.1462G>T (p.Asp488Tyr) c.1639G>T (p.Asp547Tyr) c.978G>T (n.978G>T) c.1579G>T (p.Asp527Tyr) c.1111G>T (n.1111G>T) c.1394G>T (n.1394G>T) c.1076G>T (n.1076G>T) c.1657G>T (p.Asp553Tyr) c.937G>T (n.937G>T) c.1765G>T (p.Asp589Tyr) c.1087G>T (p.Asp363Tyr) c.1672G>T (p.Asp558Tyr) c.1541G>T (n.1541G>T) c.349G>T (p.Asp117Tyr) c.922G>T (p.Asp308Tyr) c.1600G>T (p.Asp534Tyr) c.1723G>T (p.Asp575Tyr) c.997G>T (p.Asp333Tyr) c.1603G>T (p.Asp535Tyr) n.2423+2491C>A n.1962G>T
10	g.18539579A=	CA1894173931	CACNB2,NSUN6	c.1694A= (p.Asp565=) c.1559A= (p.Asp520=) c.1682A= (p.Asp561=) c.1754A= (p.Asp585=) c.1838A= (p.Asp613=) c.1676A= (p.Asp559=) c.1463A= (p.Asp488=) c.1640A= (p.Asp547=) c.979A= (n.979A=) c.1580A= (p.Asp527=) c.1112A= (n.1112A=) c.1395A= (n.1395A=) c.1077A= (n.1077A=) c.1658A= (p.Asp553=) c.938A= (n.938A=) c.1766A= (p.Asp589=) c.1088A= (p.Asp363=) c.1673A= (p.Asp558=) c.1542A= (n.1542A=) c.350A= (p.Asp117=) c.923A= (p.Asp308=) c.1601A= (p.Asp534=) c.1724A= (p.Asp575=) c.998A= (p.Asp333=) c.1604A= (p.Asp535=) n.2423+2490T= n.1963A=
10	g.18539579A>C	CA5430182	CACNB2,NSUN6	c.1694A>C (p.Asp565Ala) c.1559A>C (p.Asp520Ala) c.1682A>C (p.Asp561Ala) c.1754A>C (p.Asp585Ala) c.1838A>C (p.Asp613Ala) c.1676A>C (p.Asp559Ala) c.1463A>C (p.Asp488Ala) c.1640A>C (p.Asp547Ala) c.979A>C (n.979A>C) c.1580A>C (p.Asp527Ala) c.1112A>C (n.1112A>C) c.1395A>C (n.1395A>C) c.1077A>C (n.1077A>C) c.1658A>C (p.Asp553Ala) c.938A>C (n.938A>C) c.1766A>C (p.Asp589Ala) c.1088A>C (p.Asp363Ala) c.1673A>C (p.Asp558Ala) c.1542A>C (n.1542A>C) c.350A>C (p.Asp117Ala) c.923A>C (p.Asp308Ala) c.1601A>C (p.Asp534Ala) c.1724A>C (p.Asp575Ala) c.998A>C (p.Asp333Ala) c.1604A>C (p.Asp535Ala) n.2423+2490T>G n.1963A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539579A>G	CA376072535	CACNB2,NSUN6	c.1694A>G (p.Asp565Gly) c.1559A>G (p.Asp520Gly) c.1682A>G (p.Asp561Gly) c.1754A>G (p.Asp585Gly) c.1838A>G (p.Asp613Gly) c.1676A>G (p.Asp559Gly) c.1463A>G (p.Asp488Gly) c.1640A>G (p.Asp547Gly) c.979A>G (n.979A>G) c.1580A>G (p.Asp527Gly) c.1112A>G (n.1112A>G) c.1395A>G (n.1395A>G) c.1077A>G (n.1077A>G) c.1658A>G (p.Asp553Gly) c.938A>G (n.938A>G) c.1766A>G (p.Asp589Gly) c.1088A>G (p.Asp363Gly) c.1673A>G (p.Asp558Gly) c.1542A>G (n.1542A>G) c.350A>G (p.Asp117Gly) c.923A>G (p.Asp308Gly) c.1601A>G (p.Asp534Gly) c.1724A>G (p.Asp575Gly) c.998A>G (p.Asp333Gly) c.1604A>G (p.Asp535Gly) n.2423+2490T>C n.1963A>G	gnomAD v4
10	g.18539579A>T	CA376072537	CACNB2,NSUN6	c.1694A>T (p.Asp565Val) c.1559A>T (p.Asp520Val) c.1682A>T (p.Asp561Val) c.1754A>T (p.Asp585Val) c.1838A>T (p.Asp613Val) c.1676A>T (p.Asp559Val) c.1463A>T (p.Asp488Val) c.1640A>T (p.Asp547Val) c.979A>T (n.979A>T) c.1580A>T (p.Asp527Val) c.1112A>T (n.1112A>T) c.1395A>T (n.1395A>T) c.1077A>T (n.1077A>T) c.1658A>T (p.Asp553Val) c.938A>T (n.938A>T) c.1766A>T (p.Asp589Val) c.1088A>T (p.Asp363Val) c.1673A>T (p.Asp558Val) c.1542A>T (n.1542A>T) c.350A>T (p.Asp117Val) c.923A>T (p.Asp308Val) c.1601A>T (p.Asp534Val) c.1724A>T (p.Asp575Val) c.998A>T (p.Asp333Val) c.1604A>T (p.Asp535Val) n.2423+2490T>A n.1963A>T
10	g.18539580T>A	CA376072540	CACNB2,NSUN6	c.1695T>A (p.Asp565Glu) c.1560T>A (p.Asp520Glu) c.1683T>A (p.Asp561Glu) c.1755T>A (p.Asp585Glu) c.1839T>A (p.Asp613Glu) c.1677T>A (p.Asp559Glu) c.1464T>A (p.Asp488Glu) c.1641T>A (p.Asp547Glu) c.980T>A (n.980T>A) c.1581T>A (p.Asp527Glu) c.1113T>A (n.1113T>A) c.1396T>A (n.1396T>A) c.1078T>A (n.1078T>A) c.1659T>A (p.Asp553Glu) c.939T>A (n.939T>A) c.1767T>A (p.Asp589Glu) c.1089T>A (p.Asp363Glu) c.1674T>A (p.Asp558Glu) c.1543T>A (n.1543T>A) c.351T>A (p.Asp117Glu) c.924T>A (p.Asp308Glu) c.1602T>A (p.Asp534Glu) c.1725T>A (p.Asp575Glu) c.999T>A (p.Asp333Glu) c.1605T>A (p.Asp535Glu) n.2423+2489A>T n.1964T>A
10	g.18539580T>C	CA468649627	CACNB2,NSUN6	c.1695T>C (p.Asp565=) c.1560T>C (p.Asp520=) c.1683T>C (p.Asp561=) c.1755T>C (p.Asp585=) c.1839T>C (p.Asp613=) c.1677T>C (p.Asp559=) c.1464T>C (p.Asp488=) c.1641T>C (p.Asp547=) c.980T>C (n.980T>C) c.1581T>C (p.Asp527=) c.1113T>C (n.1113T>C) c.1396T>C (n.1396T>C) c.1078T>C (n.1078T>C) c.1659T>C (p.Asp553=) c.939T>C (n.939T>C) c.1767T>C (p.Asp589=) c.1089T>C (p.Asp363=) c.1674T>C (p.Asp558=) c.1543T>C (n.1543T>C) c.351T>C (p.Asp117=) c.924T>C (p.Asp308=) c.1602T>C (p.Asp534=) c.1725T>C (p.Asp575=) c.999T>C (p.Asp333=) c.1605T>C (p.Asp535=) n.2423+2489A>G n.1964T>C
10	g.18539580T>G	CA376072542	CACNB2,NSUN6	c.1695T>G (p.Asp565Glu) c.1560T>G (p.Asp520Glu) c.1683T>G (p.Asp561Glu) c.1755T>G (p.Asp585Glu) c.1839T>G (p.Asp613Glu) c.1677T>G (p.Asp559Glu) c.1464T>G (p.Asp488Glu) c.1641T>G (p.Asp547Glu) c.980T>G (n.980T>G) c.1581T>G (p.Asp527Glu) c.1113T>G (n.1113T>G) c.1396T>G (n.1396T>G) c.1078T>G (n.1078T>G) c.1659T>G (p.Asp553Glu) c.939T>G (n.939T>G) c.1767T>G (p.Asp589Glu) c.1089T>G (p.Asp363Glu) c.1674T>G (p.Asp558Glu) c.1543T>G (n.1543T>G) c.351T>G (p.Asp117Glu) c.924T>G (p.Asp308Glu) c.1602T>G (p.Asp534Glu) c.1725T>G (p.Asp575Glu) c.999T>G (p.Asp333Glu) c.1605T>G (p.Asp535Glu) n.2423+2489A>C n.1964T>G
10	g.18539581C>A	CA468649628	CACNB2,NSUN6	c.1696C>A (p.Arg566=) c.1561C>A (p.Arg521=) c.1684C>A (p.Arg562=) c.1756C>A (p.Arg586=) c.1840C>A (p.Arg614=) c.1678C>A (p.Arg560=) c.1465C>A (p.Arg489=) c.1642C>A (p.Arg548=) c.981C>A (n.981C>A) c.1582C>A (p.Arg528=) c.1114C>A (n.1114C>A) c.1397C>A (n.1397C>A) c.1079C>A (n.1079C>A) c.1660C>A (p.Arg554=) c.940C>A (n.940C>A) c.1768C>A (p.Arg590=) c.1090C>A (p.Arg364=) c.1675C>A (p.Arg559=) c.1544C>A (n.1544C>A) c.352C>A (p.Arg118=) c.925C>A (p.Arg309=) c.1603C>A (p.Arg535=) c.1726C>A (p.Arg576=) c.1000C>A (p.Arg334=) c.1606C>A (p.Arg536=) n.2423+2488G>T n.1965C>A	COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539581C=	CA1894173937	CACNB2,NSUN6	c.1696C= (p.Arg566=) c.1561C= (p.Arg521=) c.1684C= (p.Arg562=) c.1756C= (p.Arg586=) c.1840C= (p.Arg614=) c.1678C= (p.Arg560=) c.1465C= (p.Arg489=) c.1642C= (p.Arg548=) c.981C= (n.981C=) c.1582C= (p.Arg528=) c.1114C= (n.1114C=) c.1397C= (n.1397C=) c.1079C= (n.1079C=) c.1660C= (p.Arg554=) c.940C= (n.940C=) c.1768C= (p.Arg590=) c.1090C= (p.Arg364=) c.1675C= (p.Arg559=) c.1544C= (n.1544C=) c.352C= (p.Arg118=) c.925C= (p.Arg309=) c.1603C= (p.Arg535=) c.1726C= (p.Arg576=) c.1000C= (p.Arg334=) c.1606C= (p.Arg536=) n.2423+2488G= n.1965C=
10	g.18539581C>G	CA376072543	CACNB2,NSUN6	c.1696C>G (p.Arg566Gly) c.1561C>G (p.Arg521Gly) c.1684C>G (p.Arg562Gly) c.1756C>G (p.Arg586Gly) c.1840C>G (p.Arg614Gly) c.1678C>G (p.Arg560Gly) c.1465C>G (p.Arg489Gly) c.1642C>G (p.Arg548Gly) c.981C>G (n.981C>G) c.1582C>G (p.Arg528Gly) c.1114C>G (n.1114C>G) c.1397C>G (n.1397C>G) c.1079C>G (n.1079C>G) c.1660C>G (p.Arg554Gly) c.940C>G (n.940C>G) c.1768C>G (p.Arg590Gly) c.1090C>G (p.Arg364Gly) c.1675C>G (p.Arg559Gly) c.1544C>G (n.1544C>G) c.352C>G (p.Arg118Gly) c.925C>G (p.Arg309Gly) c.1603C>G (p.Arg535Gly) c.1726C>G (p.Arg576Gly) c.1000C>G (p.Arg334Gly) c.1606C>G (p.Arg536Gly) n.2423+2488G>C n.1965C>G	ClinVar gnomAD v4
10	g.18539581C>T	CA5430183	CACNB2,NSUN6	c.1696C>T (p.Arg566Ter) c.1561C>T (p.Arg521Ter) c.1684C>T (p.Arg562Ter) c.1756C>T (p.Arg586Ter) c.1840C>T (p.Arg614Ter) c.1678C>T (p.Arg560Ter) c.1465C>T (p.Arg489Ter) c.1642C>T (p.Arg548Ter) c.981C>T (n.981C>T) c.1582C>T (p.Arg528Ter) c.1114C>T (n.1114C>T) c.1397C>T (n.1397C>T) c.1079C>T (n.1079C>T) c.1660C>T (p.Arg554Ter) c.940C>T (n.940C>T) c.1768C>T (p.Arg590Ter) c.1090C>T (p.Arg364Ter) c.1675C>T (p.Arg559Ter) c.1544C>T (n.1544C>T) c.352C>T (p.Arg118Ter) c.925C>T (p.Arg309Ter) c.1603C>T (p.Arg535Ter) c.1726C>T (p.Arg576Ter) c.1000C>T (p.Arg334Ter) c.1606C>T (p.Arg536Ter) n.2423+2488G>A n.1965C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539582G>A	CA301883	CACNB2,NSUN6	c.1697G>A (p.Arg566Gln) c.1562G>A (p.Arg521Gln) c.1685G>A (p.Arg562Gln) c.1757G>A (p.Arg586Gln) c.1841G>A (p.Arg614Gln) c.1679G>A (p.Arg560Gln) c.1466G>A (p.Arg489Gln) c.1643G>A (p.Arg548Gln) c.982G>A (n.982G>A) c.1583G>A (p.Arg528Gln) c.1115G>A (n.1115G>A) c.1398G>A (n.1398G>A) c.1080G>A (n.1080G>A) c.1661G>A (p.Arg554Gln) c.941G>A (n.941G>A) c.1769G>A (p.Arg590Gln) c.1091G>A (p.Arg364Gln) c.1676G>A (p.Arg559Gln) c.1545G>A (n.1545G>A) c.353G>A (p.Arg118Gln) c.926G>A (p.Arg309Gln) c.1604G>A (p.Arg535Gln) c.1727G>A (p.Arg576Gln) c.1001G>A (p.Arg334Gln) c.1607G>A (p.Arg536Gln) n.2423+2487C>T n.1966G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539582G>C	CA376072549	CACNB2,NSUN6	c.1697G>C (p.Arg566Pro) c.1562G>C (p.Arg521Pro) c.1685G>C (p.Arg562Pro) c.1757G>C (p.Arg586Pro) c.1841G>C (p.Arg614Pro) c.1679G>C (p.Arg560Pro) c.1466G>C (p.Arg489Pro) c.1643G>C (p.Arg548Pro) c.982G>C (n.982G>C) c.1583G>C (p.Arg528Pro) c.1115G>C (n.1115G>C) c.1398G>C (n.1398G>C) c.1080G>C (n.1080G>C) c.1661G>C (p.Arg554Pro) c.941G>C (n.941G>C) c.1769G>C (p.Arg590Pro) c.1091G>C (p.Arg364Pro) c.1676G>C (p.Arg559Pro) c.1545G>C (n.1545G>C) c.353G>C (p.Arg118Pro) c.926G>C (p.Arg309Pro) c.1604G>C (p.Arg535Pro) c.1727G>C (p.Arg576Pro) c.1001G>C (p.Arg334Pro) c.1607G>C (p.Arg536Pro) n.2423+2487C>G n.1966G>C	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.18539582G=	CA1894173943	CACNB2,NSUN6	c.1697G= (p.Arg566=) c.1562G= (p.Arg521=) c.1685G= (p.Arg562=) c.1757G= (p.Arg586=) c.1841G= (p.Arg614=) c.1679G= (p.Arg560=) c.1466G= (p.Arg489=) c.1643G= (p.Arg548=) c.982G= (n.982G=) c.1583G= (p.Arg528=) c.1115G= (n.1115G=) c.1398G= (n.1398G=) c.1080G= (n.1080G=) c.1661G= (p.Arg554=) c.941G= (n.941G=) c.1769G= (p.Arg590=) c.1091G= (p.Arg364=) c.1676G= (p.Arg559=) c.1545G= (n.1545G=) c.353G= (p.Arg118=) c.926G= (p.Arg309=) c.1604G= (p.Arg535=) c.1727G= (p.Arg576=) c.1001G= (p.Arg334=) c.1607G= (p.Arg536=) n.2423+2487C= n.1966G=
10	g.18539582G>T	CA376072550	CACNB2,NSUN6	c.1697G>T (p.Arg566Leu) c.1562G>T (p.Arg521Leu) c.1685G>T (p.Arg562Leu) c.1757G>T (p.Arg586Leu) c.1841G>T (p.Arg614Leu) c.1679G>T (p.Arg560Leu) c.1466G>T (p.Arg489Leu) c.1643G>T (p.Arg548Leu) c.982G>T (n.982G>T) c.1583G>T (p.Arg528Leu) c.1115G>T (n.1115G>T) c.1398G>T (n.1398G>T) c.1080G>T (n.1080G>T) c.1661G>T (p.Arg554Leu) c.941G>T (n.941G>T) c.1769G>T (p.Arg590Leu) c.1091G>T (p.Arg364Leu) c.1676G>T (p.Arg559Leu) c.1545G>T (n.1545G>T) c.353G>T (p.Arg118Leu) c.926G>T (p.Arg309Leu) c.1604G>T (p.Arg535Leu) c.1727G>T (p.Arg576Leu) c.1001G>T (p.Arg334Leu) c.1607G>T (p.Arg536Leu) n.2423+2487C>A n.1966G>T	gnomAD v4
10	g.18539582_18539590dup	CA1894173945	CACNB2,NSUN6	c.1697_1705dup (p.Gln568_Asp569insGlyGluGln) c.1562_1570dup (p.Gln523_Asp524insGlyGluGln) c.1685_1693dup (p.Gln564_Asp565insGlyGluGln) c.1757_1765dup (p.Gln588_Asp589insGlyGluGln) c.1841_1849dup (p.Gln616_Asp617insGlyGluGln) c.1679_1687dup (p.Gln562_Asp563insGlyGluGln) c.1466_1474dup (p.Gln491_Asp492insGlyGluGln) c.1643_1651dup (p.Gln550_Asp551insGlyGluGln) c.982_990dup (n.982_990dup) c.1583_1591dup (p.Gln530_Asp531insGlyGluGln) c.1115_1123dup (n.1115_1123dup) c.1398_1406dup (n.1398_1406dup) c.1080_1088dup (n.1080_1088dup) c.1661_1669dup (p.Gln556_Asp557insGlyGluGln) c.941_949dup (n.941_949dup) c.1769_1777dup (p.Gln592_Asp593insGlyGluGln) c.1091_1099dup (p.Gln366_Asp367insGlyGluGln) c.1676_1684dup (p.Gln561_Asp562insGlyGluGln) c.1545_1553dup (n.1545_1553dup) c.353_361dup (p.Gln120_Asp121insGlyGluGln) c.926_934dup (p.Gln311_Asp312insGlyGluGln) c.1604_1612dup (p.Gln537_Asp538insGlyGluGln) c.1727_1735dup (p.Gln578_Asp579insGlyGluGln) c.1001_1009dup (p.Gln336_Asp337insGlyGluGln) c.1607_1615dup (p.Gln538_Asp539insGlyGluGln) n.2423+2479_2423+2487dup n.1966_1974dup	dbSNP
10	g.18539583A>C	CA468649630	CACNB2,NSUN6	c.1698A>C (p.Arg566=) c.1563A>C (p.Arg521=) c.1686A>C (p.Arg562=) c.1758A>C (p.Arg586=) c.1842A>C (p.Arg614=) c.1680A>C (p.Arg560=) c.1467A>C (p.Arg489=) c.1644A>C (p.Arg548=) c.983A>C (n.983A>C) c.1584A>C (p.Arg528=) c.1116A>C (n.1116A>C) c.1399A>C (n.1399A>C) c.1081A>C (n.1081A>C) c.1662A>C (p.Arg554=) c.942A>C (n.942A>C) c.1770A>C (p.Arg590=) c.1092A>C (p.Arg364=) c.1677A>C (p.Arg559=) c.1546A>C (n.1546A>C) c.354A>C (p.Arg118=) c.927A>C (p.Arg309=) c.1605A>C (p.Arg535=) c.1728A>C (p.Arg576=) c.1002A>C (p.Arg334=) c.1608A>C (p.Arg536=) n.2423+2486T>G n.1967A>C
10	g.18539583A>G	CA468649631	CACNB2,NSUN6	c.1698A>G (p.Arg566=) c.1563A>G (p.Arg521=) c.1686A>G (p.Arg562=) c.1758A>G (p.Arg586=) c.1842A>G (p.Arg614=) c.1680A>G (p.Arg560=) c.1467A>G (p.Arg489=) c.1644A>G (p.Arg548=) c.983A>G (n.983A>G) c.1584A>G (p.Arg528=) c.1116A>G (n.1116A>G) c.1399A>G (n.1399A>G) c.1081A>G (n.1081A>G) c.1662A>G (p.Arg554=) c.942A>G (n.942A>G) c.1770A>G (p.Arg590=) c.1092A>G (p.Arg364=) c.1677A>G (p.Arg559=) c.1546A>G (n.1546A>G) c.354A>G (p.Arg118=) c.927A>G (p.Arg309=) c.1605A>G (p.Arg535=) c.1728A>G (p.Arg576=) c.1002A>G (p.Arg334=) c.1608A>G (p.Arg536=) n.2423+2486T>C n.1967A>G	gnomAD v4
10	g.18539583A>T	CA468649633	CACNB2,NSUN6	c.1698A>T (p.Arg566=) c.1563A>T (p.Arg521=) c.1686A>T (p.Arg562=) c.1758A>T (p.Arg586=) c.1842A>T (p.Arg614=) c.1680A>T (p.Arg560=) c.1467A>T (p.Arg489=) c.1644A>T (p.Arg548=) c.983A>T (n.983A>T) c.1584A>T (p.Arg528=) c.1116A>T (n.1116A>T) c.1399A>T (n.1399A>T) c.1081A>T (n.1081A>T) c.1662A>T (p.Arg554=) c.942A>T (n.942A>T) c.1770A>T (p.Arg590=) c.1092A>T (p.Arg364=) c.1677A>T (p.Arg559=) c.1546A>T (n.1546A>T) c.354A>T (p.Arg118=) c.927A>T (p.Arg309=) c.1605A>T (p.Arg535=) c.1728A>T (p.Arg576=) c.1002A>T (p.Arg334=) c.1608A>T (p.Arg536=) n.2423+2486T>A n.1967A>T
10	g.18539584G>A	CA376072553	CACNB2,NSUN6	c.1699G>A (p.Glu567Lys) c.1564G>A (p.Glu522Lys) c.1687G>A (p.Glu563Lys) c.1759G>A (p.Glu587Lys) c.1843G>A (p.Glu615Lys) c.1681G>A (p.Glu561Lys) c.1468G>A (p.Glu490Lys) c.1645G>A (p.Glu549Lys) c.984G>A (n.984G>A) c.1585G>A (p.Glu529Lys) c.1117G>A (n.1117G>A) c.1400G>A (n.1400G>A) c.1082G>A (n.1082G>A) c.1663G>A (p.Glu555Lys) c.943G>A (n.943G>A) c.1771G>A (p.Glu591Lys) c.1093G>A (p.Glu365Lys) c.1678G>A (p.Glu560Lys) c.1547G>A (n.1547G>A) c.355G>A (p.Glu119Lys) c.928G>A (p.Glu310Lys) c.1606G>A (p.Glu536Lys) c.1729G>A (p.Glu577Lys) c.1003G>A (p.Glu335Lys) c.1609G>A (p.Glu537Lys) n.2423+2485C>T n.1968G>A	gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539584G>C	CA376072556	CACNB2,NSUN6	c.1699G>C (p.Glu567Gln) c.1564G>C (p.Glu522Gln) c.1687G>C (p.Glu563Gln) c.1759G>C (p.Glu587Gln) c.1843G>C (p.Glu615Gln) c.1681G>C (p.Glu561Gln) c.1468G>C (p.Glu490Gln) c.1645G>C (p.Glu549Gln) c.984G>C (n.984G>C) c.1585G>C (p.Glu529Gln) c.1117G>C (n.1117G>C) c.1400G>C (n.1400G>C) c.1082G>C (n.1082G>C) c.1663G>C (p.Glu555Gln) c.943G>C (n.943G>C) c.1771G>C (p.Glu591Gln) c.1093G>C (p.Glu365Gln) c.1678G>C (p.Glu560Gln) c.1547G>C (n.1547G>C) c.355G>C (p.Glu119Gln) c.928G>C (p.Glu310Gln) c.1606G>C (p.Glu536Gln) c.1729G>C (p.Glu577Gln) c.1003G>C (p.Glu335Gln) c.1609G>C (p.Glu537Gln) n.2423+2485C>G n.1968G>C	dbSNP gnomAD v2 gnomAD v4
10	g.18539584G=	CA1894173951	CACNB2,NSUN6	c.1699G= (p.Glu567=) c.1564G= (p.Glu522=) c.1687G= (p.Glu563=) c.1759G= (p.Glu587=) c.1843G= (p.Glu615=) c.1681G= (p.Glu561=) c.1468G= (p.Glu490=) c.1645G= (p.Glu549=) c.984G= (n.984G=) c.1585G= (p.Glu529=) c.1117G= (n.1117G=) c.1400G= (n.1400G=) c.1082G= (n.1082G=) c.1663G= (p.Glu555=) c.943G= (n.943G=) c.1771G= (p.Glu591=) c.1093G= (p.Glu365=) c.1678G= (p.Glu560=) c.1547G= (n.1547G=) c.355G= (p.Glu119=) c.928G= (p.Glu310=) c.1606G= (p.Glu536=) c.1729G= (p.Glu577=) c.1003G= (p.Glu335=) c.1609G= (p.Glu537=) n.2423+2485C= n.1968G=
10	g.18539584G>T	CA376072558	CACNB2,NSUN6	c.1699G>T (p.Glu567Ter) c.1564G>T (p.Glu522Ter) c.1687G>T (p.Glu563Ter) c.1759G>T (p.Glu587Ter) c.1843G>T (p.Glu615Ter) c.1681G>T (p.Glu561Ter) c.1468G>T (p.Glu490Ter) c.1645G>T (p.Glu549Ter) c.984G>T (n.984G>T) c.1585G>T (p.Glu529Ter) c.1117G>T (n.1117G>T) c.1400G>T (n.1400G>T) c.1082G>T (n.1082G>T) c.1663G>T (p.Glu555Ter) c.943G>T (n.943G>T) c.1771G>T (p.Glu591Ter) c.1093G>T (p.Glu365Ter) c.1678G>T (p.Glu560Ter) c.1547G>T (n.1547G>T) c.355G>T (p.Glu119Ter) c.928G>T (p.Glu310Ter) c.1606G>T (p.Glu536Ter) c.1729G>T (p.Glu577Ter) c.1003G>T (p.Glu335Ter) c.1609G>T (p.Glu537Ter) n.2423+2485C>A n.1968G>T	dbSNP
10	g.18539585A=	CA1894173955	CACNB2,NSUN6	c.1700A= (p.Glu567=) c.1565A= (p.Glu522=) c.1688A= (p.Glu563=) c.1760A= (p.Glu587=) c.1844A= (p.Glu615=) c.1682A= (p.Glu561=) c.1469A= (p.Glu490=) c.1646A= (p.Glu549=) c.985A= (n.985A=) c.1586A= (p.Glu529=) c.1118A= (n.1118A=) c.1401A= (n.1401A=) c.1083A= (n.1083A=) c.1664A= (p.Glu555=) c.944A= (n.944A=) c.1772A= (p.Glu591=) c.1094A= (p.Glu365=) c.1679A= (p.Glu560=) c.1548A= (n.1548A=) c.356A= (p.Glu119=) c.929A= (p.Glu310=) c.1607A= (p.Glu536=) c.1730A= (p.Glu577=) c.1004A= (p.Glu335=) c.1610A= (p.Glu537=) n.2423+2484T= n.1969A=
10	g.18539585A>C	CA376072567	CACNB2,NSUN6	c.1700A>C (p.Glu567Ala) c.1565A>C (p.Glu522Ala) c.1688A>C (p.Glu563Ala) c.1760A>C (p.Glu587Ala) c.1844A>C (p.Glu615Ala) c.1682A>C (p.Glu561Ala) c.1469A>C (p.Glu490Ala) c.1646A>C (p.Glu549Ala) c.985A>C (n.985A>C) c.1586A>C (p.Glu529Ala) c.1118A>C (n.1118A>C) c.1401A>C (n.1401A>C) c.1083A>C (n.1083A>C) c.1664A>C (p.Glu555Ala) c.944A>C (n.944A>C) c.1772A>C (p.Glu591Ala) c.1094A>C (p.Glu365Ala) c.1679A>C (p.Glu560Ala) c.1548A>C (n.1548A>C) c.356A>C (p.Glu119Ala) c.929A>C (p.Glu310Ala) c.1607A>C (p.Glu536Ala) c.1730A>C (p.Glu577Ala) c.1004A>C (p.Glu335Ala) c.1610A>C (p.Glu537Ala) n.2423+2484T>G n.1969A>C	ClinVar dbSNP gnomAD v4
10	g.18539585A>G	CA376072563	CACNB2,NSUN6	c.1700A>G (p.Glu567Gly) c.1565A>G (p.Glu522Gly) c.1688A>G (p.Glu563Gly) c.1760A>G (p.Glu587Gly) c.1844A>G (p.Glu615Gly) c.1682A>G (p.Glu561Gly) c.1469A>G (p.Glu490Gly) c.1646A>G (p.Glu549Gly) c.985A>G (n.985A>G) c.1586A>G (p.Glu529Gly) c.1118A>G (n.1118A>G) c.1401A>G (n.1401A>G) c.1083A>G (n.1083A>G) c.1664A>G (p.Glu555Gly) c.944A>G (n.944A>G) c.1772A>G (p.Glu591Gly) c.1094A>G (p.Glu365Gly) c.1679A>G (p.Glu560Gly) c.1548A>G (n.1548A>G) c.356A>G (p.Glu119Gly) c.929A>G (p.Glu310Gly) c.1607A>G (p.Glu536Gly) c.1730A>G (p.Glu577Gly) c.1004A>G (p.Glu335Gly) c.1610A>G (p.Glu537Gly) n.2423+2484T>C n.1969A>G
10	g.18539585A>T	CA376072561	CACNB2,NSUN6	c.1700A>T (p.Glu567Val) c.1565A>T (p.Glu522Val) c.1688A>T (p.Glu563Val) c.1760A>T (p.Glu587Val) c.1844A>T (p.Glu615Val) c.1682A>T (p.Glu561Val) c.1469A>T (p.Glu490Val) c.1646A>T (p.Glu549Val) c.985A>T (n.985A>T) c.1586A>T (p.Glu529Val) c.1118A>T (n.1118A>T) c.1401A>T (n.1401A>T) c.1083A>T (n.1083A>T) c.1664A>T (p.Glu555Val) c.944A>T (n.944A>T) c.1772A>T (p.Glu591Val) c.1094A>T (p.Glu365Val) c.1679A>T (p.Glu560Val) c.1548A>T (n.1548A>T) c.356A>T (p.Glu119Val) c.929A>T (p.Glu310Val) c.1607A>T (p.Glu536Val) c.1730A>T (p.Glu577Val) c.1004A>T (p.Glu335Val) c.1610A>T (p.Glu537Val) n.2423+2484T>A n.1969A>T
10	g.18539586G>A	CA468649638	CACNB2,NSUN6	c.1701G>A (p.Glu567=) c.1566G>A (p.Glu522=) c.1689G>A (p.Glu563=) c.1761G>A (p.Glu587=) c.1845G>A (p.Glu615=) c.1683G>A (p.Glu561=) c.1470G>A (p.Glu490=) c.1647G>A (p.Glu549=) c.986G>A (n.986G>A) c.1587G>A (p.Glu529=) c.1119G>A (n.1119G>A) c.1402G>A (n.1402G>A) c.1084G>A (n.1084G>A) c.1665G>A (p.Glu555=) c.945G>A (n.945G>A) c.1773G>A (p.Glu591=) c.1095G>A (p.Glu365=) c.1680G>A (p.Glu560=) c.1549G>A (n.1549G>A) c.357G>A (p.Glu119=) c.930G>A (p.Glu310=) c.1608G>A (p.Glu536=) c.1731G>A (p.Glu577=) c.1005G>A (p.Glu335=) c.1611G>A (p.Glu537=) n.2423+2483C>T n.1970G>A
10	g.18539586G>C	CA376072570	CACNB2,NSUN6	c.1701G>C (p.Glu567Asp) c.1566G>C (p.Glu522Asp) c.1689G>C (p.Glu563Asp) c.1761G>C (p.Glu587Asp) c.1845G>C (p.Glu615Asp) c.1683G>C (p.Glu561Asp) c.1470G>C (p.Glu490Asp) c.1647G>C (p.Glu549Asp) c.986G>C (n.986G>C) c.1587G>C (p.Glu529Asp) c.1119G>C (n.1119G>C) c.1402G>C (n.1402G>C) c.1084G>C (n.1084G>C) c.1665G>C (p.Glu555Asp) c.945G>C (n.945G>C) c.1773G>C (p.Glu591Asp) c.1095G>C (p.Glu365Asp) c.1680G>C (p.Glu560Asp) c.1549G>C (n.1549G>C) c.357G>C (p.Glu119Asp) c.930G>C (p.Glu310Asp) c.1608G>C (p.Glu536Asp) c.1731G>C (p.Glu577Asp) c.1005G>C (p.Glu335Asp) c.1611G>C (p.Glu537Asp) n.2423+2483C>G n.1970G>C
10	g.18539586G=	CA1894173960	CACNB2,NSUN6	c.1701G= (p.Glu567=) c.1566G= (p.Glu522=) c.1689G= (p.Glu563=) c.1761G= (p.Glu587=) c.1845G= (p.Glu615=) c.1683G= (p.Glu561=) c.1470G= (p.Glu490=) c.1647G= (p.Glu549=) c.986G= (n.986G=) c.1587G= (p.Glu529=) c.1119G= (n.1119G=) c.1402G= (n.1402G=) c.1084G= (n.1084G=) c.1665G= (p.Glu555=) c.945G= (n.945G=) c.1773G= (p.Glu591=) c.1095G= (p.Glu365=) c.1680G= (p.Glu560=) c.1549G= (n.1549G=) c.357G= (p.Glu119=) c.930G= (p.Glu310=) c.1608G= (p.Glu536=) c.1731G= (p.Glu577=) c.1005G= (p.Glu335=) c.1611G= (p.Glu537=) n.2423+2483C= n.1970G=
10	g.18539586G>T	CA376072571	CACNB2,NSUN6	c.1701G>T (p.Glu567Asp) c.1566G>T (p.Glu522Asp) c.1689G>T (p.Glu563Asp) c.1761G>T (p.Glu587Asp) c.1845G>T (p.Glu615Asp) c.1683G>T (p.Glu561Asp) c.1470G>T (p.Glu490Asp) c.1647G>T (p.Glu549Asp) c.986G>T (n.986G>T) c.1587G>T (p.Glu529Asp) c.1119G>T (n.1119G>T) c.1402G>T (n.1402G>T) c.1084G>T (n.1084G>T) c.1665G>T (p.Glu555Asp) c.945G>T (n.945G>T) c.1773G>T (p.Glu591Asp) c.1095G>T (p.Glu365Asp) c.1680G>T (p.Glu560Asp) c.1549G>T (n.1549G>T) c.357G>T (p.Glu119Asp) c.930G>T (p.Glu310Asp) c.1608G>T (p.Glu536Asp) c.1731G>T (p.Glu577Asp) c.1005G>T (p.Glu335Asp) c.1611G>T (p.Glu537Asp) n.2423+2483C>A n.1970G>T	dbSNP
10	g.18539587C>A	CA376072575	CACNB2,NSUN6	c.1702C>A (p.Gln568Lys) c.1567C>A (p.Gln523Lys) c.1690C>A (p.Gln564Lys) c.1762C>A (p.Gln588Lys) c.1846C>A (p.Gln616Lys) c.1684C>A (p.Gln562Lys) c.1471C>A (p.Gln491Lys) c.1648C>A (p.Gln550Lys) c.987C>A (n.987C>A) c.1588C>A (p.Gln530Lys) c.1120C>A (n.1120C>A) c.1403C>A (n.1403C>A) c.1085C>A (n.1085C>A) c.1666C>A (p.Gln556Lys) c.946C>A (n.946C>A) c.1774C>A (p.Gln592Lys) c.1096C>A (p.Gln366Lys) c.1681C>A (p.Gln561Lys) c.1550C>A (n.1550C>A) c.358C>A (p.Gln120Lys) c.931C>A (p.Gln311Lys) c.1609C>A (p.Gln537Lys) c.1732C>A (p.Gln578Lys) c.1006C>A (p.Gln336Lys) c.1612C>A (p.Gln538Lys) n.2423+2482G>T n.1971C>A	gnomAD v4
10	g.18539587C=	CA1894173963	CACNB2,NSUN6	c.1702C= (p.Gln568=) c.1567C= (p.Gln523=) c.1690C= (p.Gln564=) c.1762C= (p.Gln588=) c.1846C= (p.Gln616=) c.1684C= (p.Gln562=) c.1471C= (p.Gln491=) c.1648C= (p.Gln550=) c.987C= (n.987C=) c.1588C= (p.Gln530=) c.1120C= (n.1120C=) c.1403C= (n.1403C=) c.1085C= (n.1085C=) c.1666C= (p.Gln556=) c.946C= (n.946C=) c.1774C= (p.Gln592=) c.1096C= (p.Gln366=) c.1681C= (p.Gln561=) c.1550C= (n.1550C=) c.358C= (p.Gln120=) c.931C= (p.Gln311=) c.1609C= (p.Gln537=) c.1732C= (p.Gln578=) c.1006C= (p.Gln336=) c.1612C= (p.Gln538=) n.2423+2482G= n.1971C=
10	g.18539587C>G	CA203167368	CACNB2,NSUN6	c.1702C>G (p.Gln568Glu) c.1567C>G (p.Gln523Glu) c.1690C>G (p.Gln564Glu) c.1762C>G (p.Gln588Glu) c.1846C>G (p.Gln616Glu) c.1684C>G (p.Gln562Glu) c.1471C>G (p.Gln491Glu) c.1648C>G (p.Gln550Glu) c.987C>G (n.987C>G) c.1588C>G (p.Gln530Glu) c.1120C>G (n.1120C>G) c.1403C>G (n.1403C>G) c.1085C>G (n.1085C>G) c.1666C>G (p.Gln556Glu) c.946C>G (n.946C>G) c.1774C>G (p.Gln592Glu) c.1096C>G (p.Gln366Glu) c.1681C>G (p.Gln561Glu) c.1550C>G (n.1550C>G) c.358C>G (p.Gln120Glu) c.931C>G (p.Gln311Glu) c.1609C>G (p.Gln537Glu) c.1732C>G (p.Gln578Glu) c.1006C>G (p.Gln336Glu) c.1612C>G (p.Gln538Glu) n.2423+2482G>C n.1971C>G	dbSNP gnomAD v2 gnomAD v4
10	g.18539587C>T	CA376072578	CACNB2,NSUN6	c.1702C>T (p.Gln568Ter) c.1567C>T (p.Gln523Ter) c.1690C>T (p.Gln564Ter) c.1762C>T (p.Gln588Ter) c.1846C>T (p.Gln616Ter) c.1684C>T (p.Gln562Ter) c.1471C>T (p.Gln491Ter) c.1648C>T (p.Gln550Ter) c.987C>T (n.987C>T) c.1588C>T (p.Gln530Ter) c.1120C>T (n.1120C>T) c.1403C>T (n.1403C>T) c.1085C>T (n.1085C>T) c.1666C>T (p.Gln556Ter) c.946C>T (n.946C>T) c.1774C>T (p.Gln592Ter) c.1096C>T (p.Gln366Ter) c.1681C>T (p.Gln561Ter) c.1550C>T (n.1550C>T) c.358C>T (p.Gln120Ter) c.931C>T (p.Gln311Ter) c.1609C>T (p.Gln537Ter) c.1732C>T (p.Gln578Ter) c.1006C>T (p.Gln336Ter) c.1612C>T (p.Gln538Ter) n.2423+2482G>A n.1971C>T	gnomAD v4
10	g.18539588A=	CA1894173968	CACNB2,NSUN6	c.1703A= (p.Gln568=) c.1568A= (p.Gln523=) c.1691A= (p.Gln564=) c.1763A= (p.Gln588=) c.1847A= (p.Gln616=) c.1685A= (p.Gln562=) c.1472A= (p.Gln491=) c.1649A= (p.Gln550=) c.988A= (n.988A=) c.1589A= (p.Gln530=) c.1121A= (n.1121A=) c.1404A= (n.1404A=) c.1086A= (n.1086A=) c.1667A= (p.Gln556=) c.947A= (n.947A=) c.1775A= (p.Gln592=) c.1097A= (p.Gln366=) c.1682A= (p.Gln561=) c.1551A= (n.1551A=) c.359A= (p.Gln120=) c.932A= (p.Gln311=) c.1610A= (p.Gln537=) c.1733A= (p.Gln578=) c.1007A= (p.Gln336=) c.1613A= (p.Gln538=) n.2423+2481T= n.1972A=
10	g.18539588A>C	CA376072580	CACNB2,NSUN6	c.1703A>C (p.Gln568Pro) c.1568A>C (p.Gln523Pro) c.1691A>C (p.Gln564Pro) c.1763A>C (p.Gln588Pro) c.1847A>C (p.Gln616Pro) c.1685A>C (p.Gln562Pro) c.1472A>C (p.Gln491Pro) c.1649A>C (p.Gln550Pro) c.988A>C (n.988A>C) c.1589A>C (p.Gln530Pro) c.1121A>C (n.1121A>C) c.1404A>C (n.1404A>C) c.1086A>C (n.1086A>C) c.1667A>C (p.Gln556Pro) c.947A>C (n.947A>C) c.1775A>C (p.Gln592Pro) c.1097A>C (p.Gln366Pro) c.1682A>C (p.Gln561Pro) c.1551A>C (n.1551A>C) c.359A>C (p.Gln120Pro) c.932A>C (p.Gln311Pro) c.1610A>C (p.Gln537Pro) c.1733A>C (p.Gln578Pro) c.1007A>C (p.Gln336Pro) c.1613A>C (p.Gln538Pro) n.2423+2481T>G n.1972A>C
10	g.18539588A>G	CA376072582	CACNB2,NSUN6	c.1703A>G (p.Gln568Arg) c.1568A>G (p.Gln523Arg) c.1691A>G (p.Gln564Arg) c.1763A>G (p.Gln588Arg) c.1847A>G (p.Gln616Arg) c.1685A>G (p.Gln562Arg) c.1472A>G (p.Gln491Arg) c.1649A>G (p.Gln550Arg) c.988A>G (n.988A>G) c.1589A>G (p.Gln530Arg) c.1121A>G (n.1121A>G) c.1404A>G (n.1404A>G) c.1086A>G (n.1086A>G) c.1667A>G (p.Gln556Arg) c.947A>G (n.947A>G) c.1775A>G (p.Gln592Arg) c.1097A>G (p.Gln366Arg) c.1682A>G (p.Gln561Arg) c.1551A>G (n.1551A>G) c.359A>G (p.Gln120Arg) c.932A>G (p.Gln311Arg) c.1610A>G (p.Gln537Arg) c.1733A>G (p.Gln578Arg) c.1007A>G (p.Gln336Arg) c.1613A>G (p.Gln538Arg) n.2423+2481T>C n.1972A>G	dbSNP
10	g.18539588A>T	CA376072585	CACNB2,NSUN6	c.1703A>T (p.Gln568Leu) c.1568A>T (p.Gln523Leu) c.1691A>T (p.Gln564Leu) c.1763A>T (p.Gln588Leu) c.1847A>T (p.Gln616Leu) c.1685A>T (p.Gln562Leu) c.1472A>T (p.Gln491Leu) c.1649A>T (p.Gln550Leu) c.988A>T (n.988A>T) c.1589A>T (p.Gln530Leu) c.1121A>T (n.1121A>T) c.1404A>T (n.1404A>T) c.1086A>T (n.1086A>T) c.1667A>T (p.Gln556Leu) c.947A>T (n.947A>T) c.1775A>T (p.Gln592Leu) c.1097A>T (p.Gln366Leu) c.1682A>T (p.Gln561Leu) c.1551A>T (n.1551A>T) c.359A>T (p.Gln120Leu) c.932A>T (p.Gln311Leu) c.1610A>T (p.Gln537Leu) c.1733A>T (p.Gln578Leu) c.1007A>T (p.Gln336Leu) c.1613A>T (p.Gln538Leu) n.2423+2481T>A n.1972A>T
10	g.18539589G>A	CA468649643	CACNB2,NSUN6	c.1704G>A (p.Gln568=) c.1569G>A (p.Gln523=) c.1692G>A (p.Gln564=) c.1764G>A (p.Gln588=) c.1848G>A (p.Gln616=) c.1686G>A (p.Gln562=) c.1473G>A (p.Gln491=) c.1650G>A (p.Gln550=) c.989G>A (n.989G>A) c.1590G>A (p.Gln530=) c.1122G>A (n.1122G>A) c.1405G>A (n.1405G>A) c.1087G>A (n.1087G>A) c.1668G>A (p.Gln556=) c.948G>A (n.948G>A) c.1776G>A (p.Gln592=) c.1098G>A (p.Gln366=) c.1683G>A (p.Gln561=) c.1552G>A (n.1552G>A) c.360G>A (p.Gln120=) c.933G>A (p.Gln311=) c.1611G>A (p.Gln537=) c.1734G>A (p.Gln578=) c.1008G>A (p.Gln336=) c.1614G>A (p.Gln538=) n.2423+2480C>T n.1973G>A	gnomAD v4
10	g.18539589G>C	CA376072586	CACNB2,NSUN6	c.1704G>C (p.Gln568His) c.1569G>C (p.Gln523His) c.1692G>C (p.Gln564His) c.1764G>C (p.Gln588His) c.1848G>C (p.Gln616His) c.1686G>C (p.Gln562His) c.1473G>C (p.Gln491His) c.1650G>C (p.Gln550His) c.989G>C (n.989G>C) c.1590G>C (p.Gln530His) c.1122G>C (n.1122G>C) c.1405G>C (n.1405G>C) c.1087G>C (n.1087G>C) c.1668G>C (p.Gln556His) c.948G>C (n.948G>C) c.1776G>C (p.Gln592His) c.1098G>C (p.Gln366His) c.1683G>C (p.Gln561His) c.1552G>C (n.1552G>C) c.360G>C (p.Gln120His) c.933G>C (p.Gln311His) c.1611G>C (p.Gln537His) c.1734G>C (p.Gln578His) c.1008G>C (p.Gln336His) c.1614G>C (p.Gln538His) n.2423+2480C>G n.1973G>C
10	g.18539589G=	CA1894173970	CACNB2,NSUN6	c.1704G= (p.Gln568=) c.1569G= (p.Gln523=) c.1692G= (p.Gln564=) c.1764G= (p.Gln588=) c.1848G= (p.Gln616=) c.1686G= (p.Gln562=) c.1473G= (p.Gln491=) c.1650G= (p.Gln550=) c.989G= (n.989G=) c.1590G= (p.Gln530=) c.1122G= (n.1122G=) c.1405G= (n.1405G=) c.1087G= (n.1087G=) c.1668G= (p.Gln556=) c.948G= (n.948G=) c.1776G= (p.Gln592=) c.1098G= (p.Gln366=) c.1683G= (p.Gln561=) c.1552G= (n.1552G=) c.360G= (p.Gln120=) c.933G= (p.Gln311=) c.1611G= (p.Gln537=) c.1734G= (p.Gln578=) c.1008G= (p.Gln336=) c.1614G= (p.Gln538=) n.2423+2480C= n.1973G=
10	g.18539589G>T	CA376072588	CACNB2,NSUN6	c.1704G>T (p.Gln568His) c.1569G>T (p.Gln523His) c.1692G>T (p.Gln564His) c.1764G>T (p.Gln588His) c.1848G>T (p.Gln616His) c.1686G>T (p.Gln562His) c.1473G>T (p.Gln491His) c.1650G>T (p.Gln550His) c.989G>T (n.989G>T) c.1590G>T (p.Gln530His) c.1122G>T (n.1122G>T) c.1405G>T (n.1405G>T) c.1087G>T (n.1087G>T) c.1668G>T (p.Gln556His) c.948G>T (n.948G>T) c.1776G>T (p.Gln592His) c.1098G>T (p.Gln366His) c.1683G>T (p.Gln561His) c.1552G>T (n.1552G>T) c.360G>T (p.Gln120His) c.933G>T (p.Gln311His) c.1611G>T (p.Gln537His) c.1734G>T (p.Gln578His) c.1008G>T (p.Gln336His) c.1614G>T (p.Gln538His) n.2423+2480C>A n.1973G>T
10	g.18539590G>A	CA376072590	CACNB2,NSUN6	c.1705G>A (p.Asp569Asn) c.1570G>A (p.Asp524Asn) c.1693G>A (p.Asp565Asn) c.1765G>A (p.Asp589Asn) c.1849G>A (p.Asp617Asn) c.1687G>A (p.Asp563Asn) c.1474G>A (p.Asp492Asn) c.1651G>A (p.Asp551Asn) c.990G>A (n.990G>A) c.1591G>A (p.Asp531Asn) c.1123G>A (n.1123G>A) c.1406G>A (n.1406G>A) c.1088G>A (n.1088G>A) c.1669G>A (p.Asp557Asn) c.949G>A (n.949G>A) c.1777G>A (p.Asp593Asn) c.1099G>A (p.Asp367Asn) c.1684G>A (p.Asp562Asn) c.1553G>A (n.1553G>A) c.361G>A (p.Asp121Asn) c.934G>A (p.Asp312Asn) c.1612G>A (p.Asp538Asn) c.1735G>A (p.Asp579Asn) c.1009G>A (p.Asp337Asn) c.1615G>A (p.Asp539Asn) n.2423+2479C>T n.1974G>A
10	g.18539590G>C	CA376072591	CACNB2,NSUN6	c.1705G>C (p.Asp569His) c.1570G>C (p.Asp524His) c.1693G>C (p.Asp565His) c.1765G>C (p.Asp589His) c.1849G>C (p.Asp617His) c.1687G>C (p.Asp563His) c.1474G>C (p.Asp492His) c.1651G>C (p.Asp551His) c.990G>C (n.990G>C) c.1591G>C (p.Asp531His) c.1123G>C (n.1123G>C) c.1406G>C (n.1406G>C) c.1088G>C (n.1088G>C) c.1669G>C (p.Asp557His) c.949G>C (n.949G>C) c.1777G>C (p.Asp593His) c.1099G>C (p.Asp367His) c.1684G>C (p.Asp562His) c.1553G>C (n.1553G>C) c.361G>C (p.Asp121His) c.934G>C (p.Asp312His) c.1612G>C (p.Asp538His) c.1735G>C (p.Asp579His) c.1009G>C (p.Asp337His) c.1615G>C (p.Asp539His) n.2423+2479C>G n.1974G>C	ClinVar gnomAD v4
10	g.18539590G>T	CA376072593	CACNB2,NSUN6	c.1705G>T (p.Asp569Tyr) c.1570G>T (p.Asp524Tyr) c.1693G>T (p.Asp565Tyr) c.1765G>T (p.Asp589Tyr) c.1849G>T (p.Asp617Tyr) c.1687G>T (p.Asp563Tyr) c.1474G>T (p.Asp492Tyr) c.1651G>T (p.Asp551Tyr) c.990G>T (n.990G>T) c.1591G>T (p.Asp531Tyr) c.1123G>T (n.1123G>T) c.1406G>T (n.1406G>T) c.1088G>T (n.1088G>T) c.1669G>T (p.Asp557Tyr) c.949G>T (n.949G>T) c.1777G>T (p.Asp593Tyr) c.1099G>T (p.Asp367Tyr) c.1684G>T (p.Asp562Tyr) c.1553G>T (n.1553G>T) c.361G>T (p.Asp121Tyr) c.934G>T (p.Asp312Tyr) c.1612G>T (p.Asp538Tyr) c.1735G>T (p.Asp579Tyr) c.1009G>T (p.Asp337Tyr) c.1615G>T (p.Asp539Tyr) n.2423+2479C>A n.1974G>T
10	g.18539592_18539600dup	CA16613037	CACNB2,NSUN6	c.1707_1715dup (p.Asn571_Glu572insAspHisAsn) c.1572_1580dup (p.Asn526_Glu527insAspHisAsn) c.1695_1703dup (p.Asn567_Glu568insAspHisAsn) c.1767_1775dup (p.Asn591_Glu592insAspHisAsn) c.1851_1859dup (p.Asn619_Glu620insAspHisAsn) c.1689_1697dup (p.Asn565_Glu566insAspHisAsn) c.1476_1484dup (p.Asn494_Glu495insAspHisAsn) c.1653_1661dup (p.Asn553_Glu554insAspHisAsn) c.992_1000dup (n.992_1000dup) c.1593_1601dup (p.Asn533_Glu534insAspHisAsn) c.1125_1133dup (n.1125_1133dup) c.1408_1416dup (n.1408_1416dup) c.1090_1098dup (n.1090_1098dup) c.1671_1679dup (p.Asn559_Glu560insAspHisAsn) c.951_959dup (n.951_959dup) c.1779_1787dup (p.Asn595_Glu596insAspHisAsn) c.1101_1109dup (p.Asn369_Glu370insAspHisAsn) c.1686_1694dup (p.Asn564_Glu565insAspHisAsn) c.1555_1563dup (n.1555_1563dup) c.363_371dup (p.Asn123_Glu124insAspHisAsn) c.936_944dup (p.Asn314_Glu315insAspHisAsn) c.1614_1622dup (p.Asn540_Glu541insAspHisAsn) c.1737_1745dup (p.Asn581_Glu582insAspHisAsn) c.1011_1019dup (p.Asn339_Glu340insAspHisAsn) c.1617_1625dup (p.Asn541_Glu542insAspHisAsn) n.2423+2471_2423+2479dup n.1976_1984dup	ClinVar dbSNP
10	g.18539591A>C	CA376072596	CACNB2,NSUN6	c.1706A>C (p.Asp569Ala) c.1571A>C (p.Asp524Ala) c.1694A>C (p.Asp565Ala) c.1766A>C (p.Asp589Ala) c.1850A>C (p.Asp617Ala) c.1688A>C (p.Asp563Ala) c.1475A>C (p.Asp492Ala) c.1652A>C (p.Asp551Ala) c.991A>C (n.991A>C) c.1592A>C (p.Asp531Ala) c.1124A>C (n.1124A>C) c.1407A>C (n.1407A>C) c.1089A>C (n.1089A>C) c.1670A>C (p.Asp557Ala) c.950A>C (n.950A>C) c.1778A>C (p.Asp593Ala) c.1100A>C (p.Asp367Ala) c.1685A>C (p.Asp562Ala) c.1554A>C (n.1554A>C) c.362A>C (p.Asp121Ala) c.935A>C (p.Asp312Ala) c.1613A>C (p.Asp538Ala) c.1736A>C (p.Asp579Ala) c.1010A>C (p.Asp337Ala) c.1616A>C (p.Asp539Ala) n.2423+2478T>G n.1975A>C
10	g.18539591A>G	CA376072599	CACNB2,NSUN6	c.1706A>G (p.Asp569Gly) c.1571A>G (p.Asp524Gly) c.1694A>G (p.Asp565Gly) c.1766A>G (p.Asp589Gly) c.1850A>G (p.Asp617Gly) c.1688A>G (p.Asp563Gly) c.1475A>G (p.Asp492Gly) c.1652A>G (p.Asp551Gly) c.991A>G (n.991A>G) c.1592A>G (p.Asp531Gly) c.1124A>G (n.1124A>G) c.1407A>G (n.1407A>G) c.1089A>G (n.1089A>G) c.1670A>G (p.Asp557Gly) c.950A>G (n.950A>G) c.1778A>G (p.Asp593Gly) c.1100A>G (p.Asp367Gly) c.1685A>G (p.Asp562Gly) c.1554A>G (n.1554A>G) c.362A>G (p.Asp121Gly) c.935A>G (p.Asp312Gly) c.1613A>G (p.Asp538Gly) c.1736A>G (p.Asp579Gly) c.1010A>G (p.Asp337Gly) c.1616A>G (p.Asp539Gly) n.2423+2478T>C n.1975A>G
10	g.18539591A>T	CA376072602	CACNB2,NSUN6	c.1706A>T (p.Asp569Val) c.1571A>T (p.Asp524Val) c.1694A>T (p.Asp565Val) c.1766A>T (p.Asp589Val) c.1850A>T (p.Asp617Val) c.1688A>T (p.Asp563Val) c.1475A>T (p.Asp492Val) c.1652A>T (p.Asp551Val) c.991A>T (n.991A>T) c.1592A>T (p.Asp531Val) c.1124A>T (n.1124A>T) c.1407A>T (n.1407A>T) c.1089A>T (n.1089A>T) c.1670A>T (p.Asp557Val) c.950A>T (n.950A>T) c.1778A>T (p.Asp593Val) c.1100A>T (p.Asp367Val) c.1685A>T (p.Asp562Val) c.1554A>T (n.1554A>T) c.362A>T (p.Asp121Val) c.935A>T (p.Asp312Val) c.1613A>T (p.Asp538Val) c.1736A>T (p.Asp579Val) c.1010A>T (p.Asp337Val) c.1616A>T (p.Asp539Val) n.2423+2478T>A n.1975A>T
10	g.18539592C>A	CA376072604	CACNB2,NSUN6	c.1707C>A (p.Asp569Glu) c.1572C>A (p.Asp524Glu) c.1695C>A (p.Asp565Glu) c.1767C>A (p.Asp589Glu) c.1851C>A (p.Asp617Glu) c.1689C>A (p.Asp563Glu) c.1476C>A (p.Asp492Glu) c.1653C>A (p.Asp551Glu) c.992C>A (n.992C>A) c.1593C>A (p.Asp531Glu) c.1125C>A (n.1125C>A) c.1408C>A (n.1408C>A) c.1090C>A (n.1090C>A) c.1671C>A (p.Asp557Glu) c.951C>A (n.951C>A) c.1779C>A (p.Asp593Glu) c.1101C>A (p.Asp367Glu) c.1686C>A (p.Asp562Glu) c.1555C>A (n.1555C>A) c.363C>A (p.Asp121Glu) c.936C>A (p.Asp312Glu) c.1614C>A (p.Asp538Glu) c.1737C>A (p.Asp579Glu) c.1011C>A (p.Asp337Glu) c.1617C>A (p.Asp539Glu) n.2423+2477G>T n.1976C>A
10	g.18539592C=	CA1894173978	CACNB2,NSUN6	c.1707C= (p.Asp569=) c.1572C= (p.Asp524=) c.1695C= (p.Asp565=) c.1767C= (p.Asp589=) c.1851C= (p.Asp617=) c.1689C= (p.Asp563=) c.1476C= (p.Asp492=) c.1653C= (p.Asp551=) c.992C= (n.992C=) c.1593C= (p.Asp531=) c.1125C= (n.1125C=) c.1408C= (n.1408C=) c.1090C= (n.1090C=) c.1671C= (p.Asp557=) c.951C= (n.951C=) c.1779C= (p.Asp593=) c.1101C= (p.Asp367=) c.1686C= (p.Asp562=) c.1555C= (n.1555C=) c.363C= (p.Asp121=) c.936C= (p.Asp312=) c.1614C= (p.Asp538=) c.1737C= (p.Asp579=) c.1011C= (p.Asp337=) c.1617C= (p.Asp539=) n.2423+2477G= n.1976C=
10	g.18539592C>G	CA5430184	CACNB2,NSUN6	c.1707C>G (p.Asp569Glu) c.1572C>G (p.Asp524Glu) c.1695C>G (p.Asp565Glu) c.1767C>G (p.Asp589Glu) c.1851C>G (p.Asp617Glu) c.1689C>G (p.Asp563Glu) c.1476C>G (p.Asp492Glu) c.1653C>G (p.Asp551Glu) c.992C>G (n.992C>G) c.1593C>G (p.Asp531Glu) c.1125C>G (n.1125C>G) c.1408C>G (n.1408C>G) c.1090C>G (n.1090C>G) c.1671C>G (p.Asp557Glu) c.951C>G (n.951C>G) c.1779C>G (p.Asp593Glu) c.1101C>G (p.Asp367Glu) c.1686C>G (p.Asp562Glu) c.1555C>G (n.1555C>G) c.363C>G (p.Asp121Glu) c.936C>G (p.Asp312Glu) c.1614C>G (p.Asp538Glu) c.1737C>G (p.Asp579Glu) c.1011C>G (p.Asp337Glu) c.1617C>G (p.Asp539Glu) n.2423+2477G>C n.1976C>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539592C>T	CA468649651	CACNB2,NSUN6	c.1707C>T (p.Asp569=) c.1572C>T (p.Asp524=) c.1695C>T (p.Asp565=) c.1767C>T (p.Asp589=) c.1851C>T (p.Asp617=) c.1689C>T (p.Asp563=) c.1476C>T (p.Asp492=) c.1653C>T (p.Asp551=) c.992C>T (n.992C>T) c.1593C>T (p.Asp531=) c.1125C>T (n.1125C>T) c.1408C>T (n.1408C>T) c.1090C>T (n.1090C>T) c.1671C>T (p.Asp557=) c.951C>T (n.951C>T) c.1779C>T (p.Asp593=) c.1101C>T (p.Asp367=) c.1686C>T (p.Asp562=) c.1555C>T (n.1555C>T) c.363C>T (p.Asp121=) c.936C>T (p.Asp312=) c.1614C>T (p.Asp538=) c.1737C>T (p.Asp579=) c.1011C>T (p.Asp337=) c.1617C>T (p.Asp539=) n.2423+2477G>A n.1976C>T	ClinVar dbSNP gnomAD v4
10	g.18539593C>A	CA376072612	CACNB2,NSUN6	c.1708C>A (p.His570Asn) c.1573C>A (p.His525Asn) c.1696C>A (p.His566Asn) c.1768C>A (p.His590Asn) c.1852C>A (p.His618Asn) c.1690C>A (p.His564Asn) c.1477C>A (p.His493Asn) c.1654C>A (p.His552Asn) c.993C>A (n.993C>A) c.1594C>A (p.His532Asn) c.1126C>A (n.1126C>A) c.1409C>A (n.1409C>A) c.1091C>A (n.1091C>A) c.1672C>A (p.His558Asn) c.952C>A (n.952C>A) c.1780C>A (p.His594Asn) c.1102C>A (p.His368Asn) c.1687C>A (p.His563Asn) c.1556C>A (n.1556C>A) c.364C>A (p.His122Asn) c.937C>A (p.His313Asn) c.1615C>A (p.His539Asn) c.1738C>A (p.His580Asn) c.1012C>A (p.His338Asn) c.1618C>A (p.His540Asn) n.2423+2476G>T n.1977C>A
10	g.18539593C>G	CA376072614	CACNB2,NSUN6	c.1708C>G (p.His570Asp) c.1573C>G (p.His525Asp) c.1696C>G (p.His566Asp) c.1768C>G (p.His590Asp) c.1852C>G (p.His618Asp) c.1690C>G (p.His564Asp) c.1477C>G (p.His493Asp) c.1654C>G (p.His552Asp) c.993C>G (n.993C>G) c.1594C>G (p.His532Asp) c.1126C>G (n.1126C>G) c.1409C>G (n.1409C>G) c.1091C>G (n.1091C>G) c.1672C>G (p.His558Asp) c.952C>G (n.952C>G) c.1780C>G (p.His594Asp) c.1102C>G (p.His368Asp) c.1687C>G (p.His563Asp) c.1556C>G (n.1556C>G) c.364C>G (p.His122Asp) c.937C>G (p.His313Asp) c.1615C>G (p.His539Asp) c.1738C>G (p.His580Asp) c.1012C>G (p.His338Asp) c.1618C>G (p.His540Asp) n.2423+2476G>C n.1977C>G	dbSNP gnomAD v4
10	g.18539593C>T	CA376072617	CACNB2,NSUN6	c.1708C>T (p.His570Tyr) c.1573C>T (p.His525Tyr) c.1696C>T (p.His566Tyr) c.1768C>T (p.His590Tyr) c.1852C>T (p.His618Tyr) c.1690C>T (p.His564Tyr) c.1477C>T (p.His493Tyr) c.1654C>T (p.His552Tyr) c.993C>T (n.993C>T) c.1594C>T (p.His532Tyr) c.1126C>T (n.1126C>T) c.1409C>T (n.1409C>T) c.1091C>T (n.1091C>T) c.1672C>T (p.His558Tyr) c.952C>T (n.952C>T) c.1780C>T (p.His594Tyr) c.1102C>T (p.His368Tyr) c.1687C>T (p.His563Tyr) c.1556C>T (n.1556C>T) c.364C>T (p.His122Tyr) c.937C>T (p.His313Tyr) c.1615C>T (p.His539Tyr) c.1738C>T (p.His580Tyr) c.1012C>T (p.His338Tyr) c.1618C>T (p.His540Tyr) n.2423+2476G>A n.1977C>T
10	g.18539593_18539596delinsCACA	CA1894173980	CACNB2,NSUN6	c.1708_1711delinsCACA (p.His570=) c.1573_1576delinsCACA (p.His525=) c.1696_1699delinsCACA (p.His566=) c.1768_1771delinsCACA (p.His590=) c.1852_1855delinsCACA (p.His618=) c.1690_1693delinsCACA (p.His564=) c.1477_1480delinsCACA (p.His493=) c.1654_1657delinsCACA (p.His552=) c.993_996delinsCACA (n.993_996delinsCACA) c.1594_1597delinsCACA (p.His532=) c.1126_1129delinsCACA (n.1126_1129delinsCACA) c.1409_1412delinsCACA (n.1409_1412delinsCACA) c.1091_1094delinsCACA (n.1091_1094delinsCACA) c.1672_1675delinsCACA (p.His558=) c.952_955delinsCACA (n.952_955delinsCACA) c.1780_1783delinsCACA (p.His594=) c.1102_1105delinsCACA (p.His368=) c.1687_1690delinsCACA (p.His563=) c.1556_1559delinsCACA (n.1556_1559delinsCACA) c.364_367delinsCACA (p.His122=) c.937_940delinsCACA (p.His313=) c.1615_1618delinsCACA (p.His539=) c.1738_1741delinsCACA (p.His580=) c.1012_1015delinsCACA (p.His338=) c.1618_1621delinsCACA (p.His540=) n.2423+2473_2423+2476delinsTGTG n.1977_1980delinsCACA
10	g.18539593_18539602delinsCACAACGAGT	CA1894173982	CACNB2,NSUN6	c.1708_1717delinsCACAACGAGT (p.His570=) c.1573_1582delinsCACAACGAGT (p.His525=) c.1696_1705delinsCACAACGAGT (p.His566=) c.1768_1777delinsCACAACGAGT (p.His590=) c.1852_1861delinsCACAACGAGT (p.His618=) c.1690_1699delinsCACAACGAGT (p.His564=) c.1477_1486delinsCACAACGAGT (p.His493=) c.1654_1663delinsCACAACGAGT (p.His552=) c.993_1002delinsCACAACGAGT (n.993_1002delinsCACAACGAGT) c.1594_1603delinsCACAACGAGT (p.His532=) c.1126_1135delinsCACAACGAGT (n.1126_1135delinsCACAACGAGT) c.1409_1418delinsCACAACGAGT (n.1409_1418delinsCACAACGAGT) c.1091_1100delinsCACAACGAGT (n.1091_1100delinsCACAACGAGT) c.1672_1681delinsCACAACGAGT (p.His558=) c.952_961delinsCACAACGAGT (n.952_961delinsCACAACGAGT) c.1780_1789delinsCACAACGAGT (p.His594=) c.1102_1111delinsCACAACGAGT (p.His368=) c.1687_1696delinsCACAACGAGT (p.His563=) c.1556_1565delinsCACAACGAGT (n.1556_1565delinsCACAACGAGT) c.364_373delinsCACAACGAGT (p.His122=) c.937_946delinsCACAACGAGT (p.His313=) c.1615_1624delinsCACAACGAGT (p.His539=) c.1738_1747delinsCACAACGAGT (p.His580=) c.1012_1021delinsCACAACGAGT (p.His338=) c.1618_1627delinsCACAACGAGT (p.His540=) n.2423+2467_2423+2476delinsACTCGTTGTG n.1977_1986delinsCACAACGAGT
10	g.18539594A=	CA1894173993	CACNB2,NSUN6	c.1709A= (p.His570=) c.1574A= (p.His525=) c.1697A= (p.His566=) c.1769A= (p.His590=) c.1853A= (p.His618=) c.1691A= (p.His564=) c.1478A= (p.His493=) c.1655A= (p.His552=) c.994A= (n.994A=) c.1595A= (p.His532=) c.1127A= (n.1127A=) c.1410A= (n.1410A=) c.1092A= (n.1092A=) c.1673A= (p.His558=) c.953A= (n.953A=) c.1781A= (p.His594=) c.1103A= (p.His368=) c.1688A= (p.His563=) c.1557A= (n.1557A=) c.365A= (p.His122=) c.938A= (p.His313=) c.1616A= (p.His539=) c.1739A= (p.His580=) c.1013A= (p.His338=) c.1619A= (p.His540=) n.2423+2475T= n.1978A=
10	g.18539594A>C	CA376072619	CACNB2,NSUN6	c.1709A>C (p.His570Pro) c.1574A>C (p.His525Pro) c.1697A>C (p.His566Pro) c.1769A>C (p.His590Pro) c.1853A>C (p.His618Pro) c.1691A>C (p.His564Pro) c.1478A>C (p.His493Pro) c.1655A>C (p.His552Pro) c.994A>C (n.994A>C) c.1595A>C (p.His532Pro) c.1127A>C (n.1127A>C) c.1410A>C (n.1410A>C) c.1092A>C (n.1092A>C) c.1673A>C (p.His558Pro) c.953A>C (n.953A>C) c.1781A>C (p.His594Pro) c.1103A>C (p.His368Pro) c.1688A>C (p.His563Pro) c.1557A>C (n.1557A>C) c.365A>C (p.His122Pro) c.938A>C (p.His313Pro) c.1616A>C (p.His539Pro) c.1739A>C (p.His580Pro) c.1013A>C (p.His338Pro) c.1619A>C (p.His540Pro) n.2423+2475T>G n.1978A>C
10	g.18539594A>G	CA376072622	CACNB2,NSUN6	c.1709A>G (p.His570Arg) c.1574A>G (p.His525Arg) c.1697A>G (p.His566Arg) c.1769A>G (p.His590Arg) c.1853A>G (p.His618Arg) c.1691A>G (p.His564Arg) c.1478A>G (p.His493Arg) c.1655A>G (p.His552Arg) c.994A>G (n.994A>G) c.1595A>G (p.His532Arg) c.1127A>G (n.1127A>G) c.1410A>G (n.1410A>G) c.1092A>G (n.1092A>G) c.1673A>G (p.His558Arg) c.953A>G (n.953A>G) c.1781A>G (p.His594Arg) c.1103A>G (p.His368Arg) c.1688A>G (p.His563Arg) c.1557A>G (n.1557A>G) c.365A>G (p.His122Arg) c.938A>G (p.His313Arg) c.1616A>G (p.His539Arg) c.1739A>G (p.His580Arg) c.1013A>G (p.His338Arg) c.1619A>G (p.His540Arg) n.2423+2475T>C n.1978A>G
10	g.18539594A>T	CA376072625	CACNB2,NSUN6	c.1709A>T (p.His570Leu) c.1574A>T (p.His525Leu) c.1697A>T (p.His566Leu) c.1769A>T (p.His590Leu) c.1853A>T (p.His618Leu) c.1691A>T (p.His564Leu) c.1478A>T (p.His493Leu) c.1655A>T (p.His552Leu) c.994A>T (n.994A>T) c.1595A>T (p.His532Leu) c.1127A>T (n.1127A>T) c.1410A>T (n.1410A>T) c.1092A>T (n.1092A>T) c.1673A>T (p.His558Leu) c.953A>T (n.953A>T) c.1781A>T (p.His594Leu) c.1103A>T (p.His368Leu) c.1688A>T (p.His563Leu) c.1557A>T (n.1557A>T) c.365A>T (p.His122Leu) c.938A>T (p.His313Leu) c.1616A>T (p.His539Leu) c.1739A>T (p.His580Leu) c.1013A>T (p.His338Leu) c.1619A>T (p.His540Leu) n.2423+2475T>A n.1978A>T	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.18539596_18539598del	CA5430185	CACNB2,NSUN6	c.1711_1713del (p.Asn571del) c.1576_1578del (p.Asn526del) c.1699_1701del (p.Asn567del) c.1771_1773del (p.Asn591del) c.1855_1857del (p.Asn619del) c.1693_1695del (p.Asn565del) c.1480_1482del (p.Asn494del) c.1657_1659del (p.Asn553del) c.996_998del (n.996_998del) c.1597_1599del (p.Asn533del) c.1129_1131del (n.1129_1131del) c.1412_1414del (n.1412_1414del) c.1094_1096del (n.1094_1096del) c.1675_1677del (p.Asn559del) c.955_957del (n.955_957del) c.1783_1785del (p.Asn595del) c.1105_1107del (p.Asn369del) c.1690_1692del (p.Asn564del) c.1559_1561del (n.1559_1561del) c.367_369del (p.Asn123del) c.940_942del (p.Asn314del) c.1618_1620del (p.Asn540del) c.1741_1743del (p.Asn581del) c.1015_1017del (p.Asn339del) c.1621_1623del (p.Asn541del) n.2423+2473_2423+2475del n.1980_1982del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539594_18539602del	CA592060478	CACNB2,NSUN6	c.1709_1717del (p.His570_Cys573delinsArg) c.1574_1582del (p.His525_Cys528delinsArg) c.1697_1705del (p.His566_Cys569delinsArg) c.1769_1777del (p.His590_Cys593delinsArg) c.1853_1861del (p.His618_Cys621delinsArg) c.1691_1699del (p.His564_Cys567delinsArg) c.1478_1486del (p.His493_Cys496delinsArg) c.1655_1663del (p.His552_Cys555delinsArg) c.994_1002del (n.994_1002del) c.1595_1603del (p.His532_Cys535delinsArg) c.1127_1135del (n.1127_1135del) c.1410_1418del (n.1410_1418del) c.1092_1100del (n.1092_1100del) c.1673_1681del (p.His558_Cys561delinsArg) c.953_961del (n.953_961del) c.1781_1789del (p.His594_Cys597delinsArg) c.1103_1111del (p.His368_Cys371delinsArg) c.1688_1696del (p.His563_Cys566delinsArg) c.1557_1565del (n.1557_1565del) c.365_373del (p.His122_Cys125delinsArg) c.938_946del (p.His313_Cys316delinsArg) c.1616_1624del (p.His539_Cys542delinsArg) c.1739_1747del (p.His580_Cys583delinsArg) c.1013_1021del (p.His338_Cys341delinsArg) c.1619_1627del (p.His540_Cys543delinsArg) n.2423+2467_2423+2475del n.1978_1986del	dbSNP gnomAD v2 gnomAD v4
10	g.18539595C>A	CA376072630	CACNB2,NSUN6	c.1710C>A (p.His570Gln) c.1575C>A (p.His525Gln) c.1698C>A (p.His566Gln) c.1770C>A (p.His590Gln) c.1854C>A (p.His618Gln) c.1692C>A (p.His564Gln) c.1479C>A (p.His493Gln) c.1656C>A (p.His552Gln) c.995C>A (n.995C>A) c.1596C>A (p.His532Gln) c.1128C>A (n.1128C>A) c.1411C>A (n.1411C>A) c.1093C>A (n.1093C>A) c.1674C>A (p.His558Gln) c.954C>A (n.954C>A) c.1782C>A (p.His594Gln) c.1104C>A (p.His368Gln) c.1689C>A (p.His563Gln) c.1558C>A (n.1558C>A) c.366C>A (p.His122Gln) c.939C>A (p.His313Gln) c.1617C>A (p.His539Gln) c.1740C>A (p.His580Gln) c.1014C>A (p.His338Gln) c.1620C>A (p.His540Gln) n.2423+2474G>T n.1979C>A
10	g.18539595C>G	CA376072633	CACNB2,NSUN6	c.1710C>G (p.His570Gln) c.1575C>G (p.His525Gln) c.1698C>G (p.His566Gln) c.1770C>G (p.His590Gln) c.1854C>G (p.His618Gln) c.1692C>G (p.His564Gln) c.1479C>G (p.His493Gln) c.1656C>G (p.His552Gln) c.995C>G (n.995C>G) c.1596C>G (p.His532Gln) c.1128C>G (n.1128C>G) c.1411C>G (n.1411C>G) c.1093C>G (n.1093C>G) c.1674C>G (p.His558Gln) c.954C>G (n.954C>G) c.1782C>G (p.His594Gln) c.1104C>G (p.His368Gln) c.1689C>G (p.His563Gln) c.1558C>G (n.1558C>G) c.366C>G (p.His122Gln) c.939C>G (p.His313Gln) c.1617C>G (p.His539Gln) c.1740C>G (p.His580Gln) c.1014C>G (p.His338Gln) c.1620C>G (p.His540Gln) n.2423+2474G>C n.1979C>G	gnomAD v4
10	g.18539595C>T	CA468649656	CACNB2,NSUN6	c.1710C>T (p.His570=) c.1575C>T (p.His525=) c.1698C>T (p.His566=) c.1770C>T (p.His590=) c.1854C>T (p.His618=) c.1692C>T (p.His564=) c.1479C>T (p.His493=) c.1656C>T (p.His552=) c.995C>T (n.995C>T) c.1596C>T (p.His532=) c.1128C>T (n.1128C>T) c.1411C>T (n.1411C>T) c.1093C>T (n.1093C>T) c.1674C>T (p.His558=) c.954C>T (n.954C>T) c.1782C>T (p.His594=) c.1104C>T (p.His368=) c.1689C>T (p.His563=) c.1558C>T (n.1558C>T) c.366C>T (p.His122=) c.939C>T (p.His313=) c.1617C>T (p.His539=) c.1740C>T (p.His580=) c.1014C>T (p.His338=) c.1620C>T (p.His540=) n.2423+2474G>A n.1979C>T
10	g.18539596A=	CA1894173997	CACNB2,NSUN6	c.1711A= (p.Asn571=) c.1576A= (p.Asn526=) c.1699A= (p.Asn567=) c.1771A= (p.Asn591=) c.1855A= (p.Asn619=) c.1693A= (p.Asn565=) c.1480A= (p.Asn494=) c.1657A= (p.Asn553=) c.996A= (n.996A=) c.1597A= (p.Asn533=) c.1129A= (n.1129A=) c.1412A= (n.1412A=) c.1094A= (n.1094A=) c.1675A= (p.Asn559=) c.955A= (n.955A=) c.1783A= (p.Asn595=) c.1105A= (p.Asn369=) c.1690A= (p.Asn564=) c.1559A= (n.1559A=) c.367A= (p.Asn123=) c.940A= (p.Asn314=) c.1618A= (p.Asn540=) c.1741A= (p.Asn581=) c.1015A= (p.Asn339=) c.1621A= (p.Asn541=) n.2423+2473T= n.1980A=
10	g.18539596A>C	CA376072636	CACNB2,NSUN6	c.1711A>C (p.Asn571His) c.1576A>C (p.Asn526His) c.1699A>C (p.Asn567His) c.1771A>C (p.Asn591His) c.1855A>C (p.Asn619His) c.1693A>C (p.Asn565His) c.1480A>C (p.Asn494His) c.1657A>C (p.Asn553His) c.996A>C (n.996A>C) c.1597A>C (p.Asn533His) c.1129A>C (n.1129A>C) c.1412A>C (n.1412A>C) c.1094A>C (n.1094A>C) c.1675A>C (p.Asn559His) c.955A>C (n.955A>C) c.1783A>C (p.Asn595His) c.1105A>C (p.Asn369His) c.1690A>C (p.Asn564His) c.1559A>C (n.1559A>C) c.367A>C (p.Asn123His) c.940A>C (p.Asn314His) c.1618A>C (p.Asn540His) c.1741A>C (p.Asn581His) c.1015A>C (p.Asn339His) c.1621A>C (p.Asn541His) n.2423+2473T>G n.1980A>C	dbSNP gnomAD v2 gnomAD v4
10	g.18539596A>G	CA376072638	CACNB2,NSUN6	c.1711A>G (p.Asn571Asp) c.1576A>G (p.Asn526Asp) c.1699A>G (p.Asn567Asp) c.1771A>G (p.Asn591Asp) c.1855A>G (p.Asn619Asp) c.1693A>G (p.Asn565Asp) c.1480A>G (p.Asn494Asp) c.1657A>G (p.Asn553Asp) c.996A>G (n.996A>G) c.1597A>G (p.Asn533Asp) c.1129A>G (n.1129A>G) c.1412A>G (n.1412A>G) c.1094A>G (n.1094A>G) c.1675A>G (p.Asn559Asp) c.955A>G (n.955A>G) c.1783A>G (p.Asn595Asp) c.1105A>G (p.Asn369Asp) c.1690A>G (p.Asn564Asp) c.1559A>G (n.1559A>G) c.367A>G (p.Asn123Asp) c.940A>G (p.Asn314Asp) c.1618A>G (p.Asn540Asp) c.1741A>G (p.Asn581Asp) c.1015A>G (p.Asn339Asp) c.1621A>G (p.Asn541Asp) n.2423+2473T>C n.1980A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539596A>T	CA376072640	CACNB2,NSUN6	c.1711A>T (p.Asn571Tyr) c.1576A>T (p.Asn526Tyr) c.1699A>T (p.Asn567Tyr) c.1771A>T (p.Asn591Tyr) c.1855A>T (p.Asn619Tyr) c.1693A>T (p.Asn565Tyr) c.1480A>T (p.Asn494Tyr) c.1657A>T (p.Asn553Tyr) c.996A>T (n.996A>T) c.1597A>T (p.Asn533Tyr) c.1129A>T (n.1129A>T) c.1412A>T (n.1412A>T) c.1094A>T (n.1094A>T) c.1675A>T (p.Asn559Tyr) c.955A>T (n.955A>T) c.1783A>T (p.Asn595Tyr) c.1105A>T (p.Asn369Tyr) c.1690A>T (p.Asn564Tyr) c.1559A>T (n.1559A>T) c.367A>T (p.Asn123Tyr) c.940A>T (p.Asn314Tyr) c.1618A>T (p.Asn540Tyr) c.1741A>T (p.Asn581Tyr) c.1015A>T (p.Asn339Tyr) c.1621A>T (p.Asn541Tyr) n.2423+2473T>A n.1980A>T
10	g.18539597A>C	CA376072643	CACNB2,NSUN6	c.1712A>C (p.Asn571Thr) c.1577A>C (p.Asn526Thr) c.1700A>C (p.Asn567Thr) c.1772A>C (p.Asn591Thr) c.1856A>C (p.Asn619Thr) c.1694A>C (p.Asn565Thr) c.1481A>C (p.Asn494Thr) c.1658A>C (p.Asn553Thr) c.997A>C (n.997A>C) c.1598A>C (p.Asn533Thr) c.1130A>C (n.1130A>C) c.1413A>C (n.1413A>C) c.1095A>C (n.1095A>C) c.1676A>C (p.Asn559Thr) c.956A>C (n.956A>C) c.1784A>C (p.Asn595Thr) c.1106A>C (p.Asn369Thr) c.1691A>C (p.Asn564Thr) c.1560A>C (n.1560A>C) c.368A>C (p.Asn123Thr) c.941A>C (p.Asn314Thr) c.1619A>C (p.Asn540Thr) c.1742A>C (p.Asn581Thr) c.1016A>C (p.Asn339Thr) c.1622A>C (p.Asn541Thr) n.2423+2472T>G n.1981A>C
10	g.18539597A>G	CA376072645	CACNB2,NSUN6	c.1712A>G (p.Asn571Ser) c.1577A>G (p.Asn526Ser) c.1700A>G (p.Asn567Ser) c.1772A>G (p.Asn591Ser) c.1856A>G (p.Asn619Ser) c.1694A>G (p.Asn565Ser) c.1481A>G (p.Asn494Ser) c.1658A>G (p.Asn553Ser) c.997A>G (n.997A>G) c.1598A>G (p.Asn533Ser) c.1130A>G (n.1130A>G) c.1413A>G (n.1413A>G) c.1095A>G (n.1095A>G) c.1676A>G (p.Asn559Ser) c.956A>G (n.956A>G) c.1784A>G (p.Asn595Ser) c.1106A>G (p.Asn369Ser) c.1691A>G (p.Asn564Ser) c.1560A>G (n.1560A>G) c.368A>G (p.Asn123Ser) c.941A>G (p.Asn314Ser) c.1619A>G (p.Asn540Ser) c.1742A>G (p.Asn581Ser) c.1016A>G (p.Asn339Ser) c.1622A>G (p.Asn541Ser) n.2423+2472T>C n.1981A>G
10	g.18539597A>T	CA376072644	CACNB2,NSUN6	c.1712A>T (p.Asn571Ile) c.1577A>T (p.Asn526Ile) c.1700A>T (p.Asn567Ile) c.1772A>T (p.Asn591Ile) c.1856A>T (p.Asn619Ile) c.1694A>T (p.Asn565Ile) c.1481A>T (p.Asn494Ile) c.1658A>T (p.Asn553Ile) c.997A>T (n.997A>T) c.1598A>T (p.Asn533Ile) c.1130A>T (n.1130A>T) c.1413A>T (n.1413A>T) c.1095A>T (n.1095A>T) c.1676A>T (p.Asn559Ile) c.956A>T (n.956A>T) c.1784A>T (p.Asn595Ile) c.1106A>T (p.Asn369Ile) c.1691A>T (p.Asn564Ile) c.1560A>T (n.1560A>T) c.368A>T (p.Asn123Ile) c.941A>T (p.Asn314Ile) c.1619A>T (p.Asn540Ile) c.1742A>T (p.Asn581Ile) c.1016A>T (p.Asn339Ile) c.1622A>T (p.Asn541Ile) n.2423+2472T>A n.1981A>T
10	g.18539598C>A	CA376072647	CACNB2,NSUN6	c.1713C>A (p.Asn571Lys) c.1578C>A (p.Asn526Lys) c.1701C>A (p.Asn567Lys) c.1773C>A (p.Asn591Lys) c.1857C>A (p.Asn619Lys) c.1695C>A (p.Asn565Lys) c.1482C>A (p.Asn494Lys) c.1659C>A (p.Asn553Lys) c.998C>A (n.998C>A) c.1599C>A (p.Asn533Lys) c.1131C>A (n.1131C>A) c.1414C>A (n.1414C>A) c.1096C>A (n.1096C>A) c.1677C>A (p.Asn559Lys) c.957C>A (n.957C>A) c.1785C>A (p.Asn595Lys) c.1107C>A (p.Asn369Lys) c.1692C>A (p.Asn564Lys) c.1561C>A (n.1561C>A) c.369C>A (p.Asn123Lys) c.942C>A (p.Asn314Lys) c.1620C>A (p.Asn540Lys) c.1743C>A (p.Asn581Lys) c.1017C>A (p.Asn339Lys) c.1623C>A (p.Asn541Lys) n.2423+2471G>T n.1982C>A
10	g.18539598C=	CA1894174001	CACNB2,NSUN6	c.1713C= (p.Asn571=) c.1578C= (p.Asn526=) c.1701C= (p.Asn567=) c.1773C= (p.Asn591=) c.1857C= (p.Asn619=) c.1695C= (p.Asn565=) c.1482C= (p.Asn494=) c.1659C= (p.Asn553=) c.998C= (n.998C=) c.1599C= (p.Asn533=) c.1131C= (n.1131C=) c.1414C= (n.1414C=) c.1096C= (n.1096C=) c.1677C= (p.Asn559=) c.957C= (n.957C=) c.1785C= (p.Asn595=) c.1107C= (p.Asn369=) c.1692C= (p.Asn564=) c.1561C= (n.1561C=) c.369C= (p.Asn123=) c.942C= (p.Asn314=) c.1620C= (p.Asn540=) c.1743C= (p.Asn581=) c.1017C= (p.Asn339=) c.1623C= (p.Asn541=) n.2423+2471G= n.1982C=
10	g.18539598C>G	CA376072649	CACNB2,NSUN6	c.1713C>G (p.Asn571Lys) c.1578C>G (p.Asn526Lys) c.1701C>G (p.Asn567Lys) c.1773C>G (p.Asn591Lys) c.1857C>G (p.Asn619Lys) c.1695C>G (p.Asn565Lys) c.1482C>G (p.Asn494Lys) c.1659C>G (p.Asn553Lys) c.998C>G (n.998C>G) c.1599C>G (p.Asn533Lys) c.1131C>G (n.1131C>G) c.1414C>G (n.1414C>G) c.1096C>G (n.1096C>G) c.1677C>G (p.Asn559Lys) c.957C>G (n.957C>G) c.1785C>G (p.Asn595Lys) c.1107C>G (p.Asn369Lys) c.1692C>G (p.Asn564Lys) c.1561C>G (n.1561C>G) c.369C>G (p.Asn123Lys) c.942C>G (p.Asn314Lys) c.1620C>G (p.Asn540Lys) c.1743C>G (p.Asn581Lys) c.1017C>G (p.Asn339Lys) c.1623C>G (p.Asn541Lys) n.2423+2471G>C n.1982C>G	gnomAD v4
10	g.18539598C>T	CA5430186	CACNB2,NSUN6	c.1713C>T (p.Asn571=) c.1578C>T (p.Asn526=) c.1701C>T (p.Asn567=) c.1773C>T (p.Asn591=) c.1857C>T (p.Asn619=) c.1695C>T (p.Asn565=) c.1482C>T (p.Asn494=) c.1659C>T (p.Asn553=) c.998C>T (n.998C>T) c.1599C>T (p.Asn533=) c.1131C>T (n.1131C>T) c.1414C>T (n.1414C>T) c.1096C>T (n.1096C>T) c.1677C>T (p.Asn559=) c.957C>T (n.957C>T) c.1785C>T (p.Asn595=) c.1107C>T (p.Asn369=) c.1692C>T (p.Asn564=) c.1561C>T (n.1561C>T) c.369C>T (p.Asn123=) c.942C>T (p.Asn314=) c.1620C>T (p.Asn540=) c.1743C>T (p.Asn581=) c.1017C>T (p.Asn339=) c.1623C>T (p.Asn541=) n.2423+2471G>A n.1982C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539599G>A	CA5430187	CACNB2,NSUN6	c.1714G>A (p.Glu572Lys) c.1579G>A (p.Glu527Lys) c.1702G>A (p.Glu568Lys) c.1774G>A (p.Glu592Lys) c.1858G>A (p.Glu620Lys) c.1696G>A (p.Glu566Lys) c.1483G>A (p.Glu495Lys) c.1660G>A (p.Glu554Lys) c.999G>A (n.999G>A) c.1600G>A (p.Glu534Lys) c.1132G>A (n.1132G>A) c.1415G>A (n.1415G>A) c.1097G>A (n.1097G>A) c.1678G>A (p.Glu560Lys) c.958G>A (n.958G>A) c.1786G>A (p.Glu596Lys) c.1108G>A (p.Glu370Lys) c.1693G>A (p.Glu565Lys) c.1562G>A (n.1562G>A) c.370G>A (p.Glu124Lys) c.943G>A (p.Glu315Lys) c.1621G>A (p.Glu541Lys) c.1744G>A (p.Glu582Lys) c.1018G>A (p.Glu340Lys) c.1624G>A (p.Glu542Lys) n.2423+2470C>T n.1983G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539599G>C	CA376072652	CACNB2,NSUN6	c.1714G>C (p.Glu572Gln) c.1579G>C (p.Glu527Gln) c.1702G>C (p.Glu568Gln) c.1774G>C (p.Glu592Gln) c.1858G>C (p.Glu620Gln) c.1696G>C (p.Glu566Gln) c.1483G>C (p.Glu495Gln) c.1660G>C (p.Glu554Gln) c.999G>C (n.999G>C) c.1600G>C (p.Glu534Gln) c.1132G>C (n.1132G>C) c.1415G>C (n.1415G>C) c.1097G>C (n.1097G>C) c.1678G>C (p.Glu560Gln) c.958G>C (n.958G>C) c.1786G>C (p.Glu596Gln) c.1108G>C (p.Glu370Gln) c.1693G>C (p.Glu565Gln) c.1562G>C (n.1562G>C) c.370G>C (p.Glu124Gln) c.943G>C (p.Glu315Gln) c.1621G>C (p.Glu541Gln) c.1744G>C (p.Glu582Gln) c.1018G>C (p.Glu340Gln) c.1624G>C (p.Glu542Gln) n.2423+2470C>G n.1983G>C
10	g.18539599G=	CA1894174011	CACNB2,NSUN6	c.1714G= (p.Glu572=) c.1579G= (p.Glu527=) c.1702G= (p.Glu568=) c.1774G= (p.Glu592=) c.1858G= (p.Glu620=) c.1696G= (p.Glu566=) c.1483G= (p.Glu495=) c.1660G= (p.Glu554=) c.999G= (n.999G=) c.1600G= (p.Glu534=) c.1132G= (n.1132G=) c.1415G= (n.1415G=) c.1097G= (n.1097G=) c.1678G= (p.Glu560=) c.958G= (n.958G=) c.1786G= (p.Glu596=) c.1108G= (p.Glu370=) c.1693G= (p.Glu565=) c.1562G= (n.1562G=) c.370G= (p.Glu124=) c.943G= (p.Glu315=) c.1621G= (p.Glu541=) c.1744G= (p.Glu582=) c.1018G= (p.Glu340=) c.1624G= (p.Glu542=) n.2423+2470C= n.1983G=
10	g.18539599G>T	CA376072654	CACNB2,NSUN6	c.1714G>T (p.Glu572Ter) c.1579G>T (p.Glu527Ter) c.1702G>T (p.Glu568Ter) c.1774G>T (p.Glu592Ter) c.1858G>T (p.Glu620Ter) c.1696G>T (p.Glu566Ter) c.1483G>T (p.Glu495Ter) c.1660G>T (p.Glu554Ter) c.999G>T (n.999G>T) c.1600G>T (p.Glu534Ter) c.1132G>T (n.1132G>T) c.1415G>T (n.1415G>T) c.1097G>T (n.1097G>T) c.1678G>T (p.Glu560Ter) c.958G>T (n.958G>T) c.1786G>T (p.Glu596Ter) c.1108G>T (p.Glu370Ter) c.1693G>T (p.Glu565Ter) c.1562G>T (n.1562G>T) c.370G>T (p.Glu124Ter) c.943G>T (p.Glu315Ter) c.1621G>T (p.Glu541Ter) c.1744G>T (p.Glu582Ter) c.1018G>T (p.Glu340Ter) c.1624G>T (p.Glu542Ter) n.2423+2470C>A n.1983G>T
10	g.18539600A>C	CA376072656	CACNB2,NSUN6	c.1715A>C (p.Glu572Ala) c.1580A>C (p.Glu527Ala) c.1703A>C (p.Glu568Ala) c.1775A>C (p.Glu592Ala) c.1859A>C (p.Glu620Ala) c.1697A>C (p.Glu566Ala) c.1484A>C (p.Glu495Ala) c.1661A>C (p.Glu554Ala) c.1000A>C (n.1000A>C) c.1601A>C (p.Glu534Ala) c.1133A>C (n.1133A>C) c.1416A>C (n.1416A>C) c.1098A>C (n.1098A>C) c.1679A>C (p.Glu560Ala) c.959A>C (n.959A>C) c.1787A>C (p.Glu596Ala) c.1109A>C (p.Glu370Ala) c.1694A>C (p.Glu565Ala) c.1563A>C (n.1563A>C) c.371A>C (p.Glu124Ala) c.944A>C (p.Glu315Ala) c.1622A>C (p.Glu541Ala) c.1745A>C (p.Glu582Ala) c.1019A>C (p.Glu340Ala) c.1625A>C (p.Glu542Ala) n.2423+2469T>G n.1984A>C
10	g.18539600A>G	CA376072658	CACNB2,NSUN6	c.1715A>G (p.Glu572Gly) c.1580A>G (p.Glu527Gly) c.1703A>G (p.Glu568Gly) c.1775A>G (p.Glu592Gly) c.1859A>G (p.Glu620Gly) c.1697A>G (p.Glu566Gly) c.1484A>G (p.Glu495Gly) c.1661A>G (p.Glu554Gly) c.1000A>G (n.1000A>G) c.1601A>G (p.Glu534Gly) c.1133A>G (n.1133A>G) c.1416A>G (n.1416A>G) c.1098A>G (n.1098A>G) c.1679A>G (p.Glu560Gly) c.959A>G (n.959A>G) c.1787A>G (p.Glu596Gly) c.1109A>G (p.Glu370Gly) c.1694A>G (p.Glu565Gly) c.1563A>G (n.1563A>G) c.371A>G (p.Glu124Gly) c.944A>G (p.Glu315Gly) c.1622A>G (p.Glu541Gly) c.1745A>G (p.Glu582Gly) c.1019A>G (p.Glu340Gly) c.1625A>G (p.Glu542Gly) n.2423+2469T>C n.1984A>G
10	g.18539600A>T	CA376072659	CACNB2,NSUN6	c.1715A>T (p.Glu572Val) c.1580A>T (p.Glu527Val) c.1703A>T (p.Glu568Val) c.1775A>T (p.Glu592Val) c.1859A>T (p.Glu620Val) c.1697A>T (p.Glu566Val) c.1484A>T (p.Glu495Val) c.1661A>T (p.Glu554Val) c.1000A>T (n.1000A>T) c.1601A>T (p.Glu534Val) c.1133A>T (n.1133A>T) c.1416A>T (n.1416A>T) c.1098A>T (n.1098A>T) c.1679A>T (p.Glu560Val) c.959A>T (n.959A>T) c.1787A>T (p.Glu596Val) c.1109A>T (p.Glu370Val) c.1694A>T (p.Glu565Val) c.1563A>T (n.1563A>T) c.371A>T (p.Glu124Val) c.944A>T (p.Glu315Val) c.1622A>T (p.Glu541Val) c.1745A>T (p.Glu582Val) c.1019A>T (p.Glu340Val) c.1625A>T (p.Glu542Val) n.2423+2469T>A n.1984A>T
10	g.18539601G>A	CA203167381	CACNB2,NSUN6	c.1716G>A (p.Glu572=) c.1581G>A (p.Glu527=) c.1704G>A (p.Glu568=) c.1776G>A (p.Glu592=) c.1860G>A (p.Glu620=) c.1698G>A (p.Glu566=) c.1485G>A (p.Glu495=) c.1662G>A (p.Glu554=) c.1001G>A (n.1001G>A) c.1602G>A (p.Glu534=) c.1134G>A (n.1134G>A) c.1417G>A (n.1417G>A) c.1099G>A (n.1099G>A) c.1680G>A (p.Glu560=) c.960G>A (n.960G>A) c.1788G>A (p.Glu596=) c.1110G>A (p.Glu370=) c.1695G>A (p.Glu565=) c.1564G>A (n.1564G>A) c.372G>A (p.Glu124=) c.945G>A (p.Glu315=) c.1623G>A (p.Glu541=) c.1746G>A (p.Glu582=) c.1020G>A (p.Glu340=) c.1626G>A (p.Glu542=) n.2423+2468C>T n.1985G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
10	g.18539601G>C	CA376072662	CACNB2,NSUN6	c.1716G>C (p.Glu572Asp) c.1581G>C (p.Glu527Asp) c.1704G>C (p.Glu568Asp) c.1776G>C (p.Glu592Asp) c.1860G>C (p.Glu620Asp) c.1698G>C (p.Glu566Asp) c.1485G>C (p.Glu495Asp) c.1662G>C (p.Glu554Asp) c.1001G>C (n.1001G>C) c.1602G>C (p.Glu534Asp) c.1134G>C (n.1134G>C) c.1417G>C (n.1417G>C) c.1099G>C (n.1099G>C) c.1680G>C (p.Glu560Asp) c.960G>C (n.960G>C) c.1788G>C (p.Glu596Asp) c.1110G>C (p.Glu370Asp) c.1695G>C (p.Glu565Asp) c.1564G>C (n.1564G>C) c.372G>C (p.Glu124Asp) c.945G>C (p.Glu315Asp) c.1623G>C (p.Glu541Asp) c.1746G>C (p.Glu582Asp) c.1020G>C (p.Glu340Asp) c.1626G>C (p.Glu542Asp) n.2423+2468C>G n.1985G>C	dbSNP gnomAD v4
10	g.18539601G=	CA1894174016	CACNB2,NSUN6	c.1716G= (p.Glu572=) c.1581G= (p.Glu527=) c.1704G= (p.Glu568=) c.1776G= (p.Glu592=) c.1860G= (p.Glu620=) c.1698G= (p.Glu566=) c.1485G= (p.Glu495=) c.1662G= (p.Glu554=) c.1001G= (n.1001G=) c.1602G= (p.Glu534=) c.1134G= (n.1134G=) c.1417G= (n.1417G=) c.1099G= (n.1099G=) c.1680G= (p.Glu560=) c.960G= (n.960G=) c.1788G= (p.Glu596=) c.1110G= (p.Glu370=) c.1695G= (p.Glu565=) c.1564G= (n.1564G=) c.372G= (p.Glu124=) c.945G= (p.Glu315=) c.1623G= (p.Glu541=) c.1746G= (p.Glu582=) c.1020G= (p.Glu340=) c.1626G= (p.Glu542=) n.2423+2468C= n.1985G=
10	g.18539601G>T	CA376072664	CACNB2,NSUN6	c.1716G>T (p.Glu572Asp) c.1581G>T (p.Glu527Asp) c.1704G>T (p.Glu568Asp) c.1776G>T (p.Glu592Asp) c.1860G>T (p.Glu620Asp) c.1698G>T (p.Glu566Asp) c.1485G>T (p.Glu495Asp) c.1662G>T (p.Glu554Asp) c.1001G>T (n.1001G>T) c.1602G>T (p.Glu534Asp) c.1134G>T (n.1134G>T) c.1417G>T (n.1417G>T) c.1099G>T (n.1099G>T) c.1680G>T (p.Glu560Asp) c.960G>T (n.960G>T) c.1788G>T (p.Glu596Asp) c.1110G>T (p.Glu370Asp) c.1695G>T (p.Glu565Asp) c.1564G>T (n.1564G>T) c.372G>T (p.Glu124Asp) c.945G>T (p.Glu315Asp) c.1623G>T (p.Glu541Asp) c.1746G>T (p.Glu582Asp) c.1020G>T (p.Glu340Asp) c.1626G>T (p.Glu542Asp) n.2423+2468C>A n.1985G>T
10	g.18539602T>A	CA376072667	CACNB2,NSUN6	c.1717T>A (p.Cys573Ser) c.1582T>A (p.Cys528Ser) c.1705T>A (p.Cys569Ser) c.1777T>A (p.Cys593Ser) c.1861T>A (p.Cys621Ser) c.1699T>A (p.Cys567Ser) c.1486T>A (p.Cys496Ser) c.1663T>A (p.Cys555Ser) c.1002T>A (n.1002T>A) c.1603T>A (p.Cys535Ser) c.1135T>A (n.1135T>A) c.1418T>A (n.1418T>A) c.1100T>A (n.1100T>A) c.1681T>A (p.Cys561Ser) c.961T>A (n.961T>A) c.1789T>A (p.Cys597Ser) c.1111T>A (p.Cys371Ser) c.1696T>A (p.Cys566Ser) c.1565T>A (n.1565T>A) c.373T>A (p.Cys125Ser) c.946T>A (p.Cys316Ser) c.1624T>A (p.Cys542Ser) c.1747T>A (p.Cys583Ser) c.1021T>A (p.Cys341Ser) c.1627T>A (p.Cys543Ser) n.2423+2467A>T n.1986T>A
10	g.18539602T>C	CA376072669	CACNB2,NSUN6	c.1717T>C (p.Cys573Arg) c.1582T>C (p.Cys528Arg) c.1705T>C (p.Cys569Arg) c.1777T>C (p.Cys593Arg) c.1861T>C (p.Cys621Arg) c.1699T>C (p.Cys567Arg) c.1486T>C (p.Cys496Arg) c.1663T>C (p.Cys555Arg) c.1002T>C (n.1002T>C) c.1603T>C (p.Cys535Arg) c.1135T>C (n.1135T>C) c.1418T>C (n.1418T>C) c.1100T>C (n.1100T>C) c.1681T>C (p.Cys561Arg) c.961T>C (n.961T>C) c.1789T>C (p.Cys597Arg) c.1111T>C (p.Cys371Arg) c.1696T>C (p.Cys566Arg) c.1565T>C (n.1565T>C) c.373T>C (p.Cys125Arg) c.946T>C (p.Cys316Arg) c.1624T>C (p.Cys542Arg) c.1747T>C (p.Cys583Arg) c.1021T>C (p.Cys341Arg) c.1627T>C (p.Cys543Arg) n.2423+2467A>G n.1986T>C	gnomAD v4
10	g.18539602T>G	CA376072665	CACNB2,NSUN6	c.1717T>G (p.Cys573Gly) c.1582T>G (p.Cys528Gly) c.1705T>G (p.Cys569Gly) c.1777T>G (p.Cys593Gly) c.1861T>G (p.Cys621Gly) c.1699T>G (p.Cys567Gly) c.1486T>G (p.Cys496Gly) c.1663T>G (p.Cys555Gly) c.1002T>G (n.1002T>G) c.1603T>G (p.Cys535Gly) c.1135T>G (n.1135T>G) c.1418T>G (n.1418T>G) c.1100T>G (n.1100T>G) c.1681T>G (p.Cys561Gly) c.961T>G (n.961T>G) c.1789T>G (p.Cys597Gly) c.1111T>G (p.Cys371Gly) c.1696T>G (p.Cys566Gly) c.1565T>G (n.1565T>G) c.373T>G (p.Cys125Gly) c.946T>G (p.Cys316Gly) c.1624T>G (p.Cys542Gly) c.1747T>G (p.Cys583Gly) c.1021T>G (p.Cys341Gly) c.1627T>G (p.Cys543Gly) n.2423+2467A>C n.1986T>G
10	g.18539603G>A	CA5430188	CACNB2,NSUN6	c.1718G>A (p.Cys573Tyr) c.1583G>A (p.Cys528Tyr) c.1706G>A (p.Cys569Tyr) c.1778G>A (p.Cys593Tyr) c.1862G>A (p.Cys621Tyr) c.1700G>A (p.Cys567Tyr) c.1487G>A (p.Cys496Tyr) c.1664G>A (p.Cys555Tyr) c.1003G>A (n.1003G>A) c.1604G>A (p.Cys535Tyr) c.1136G>A (n.1136G>A) c.1419G>A (n.1419G>A) c.1101G>A (n.1101G>A) c.1682G>A (p.Cys561Tyr) c.962G>A (n.962G>A) c.1790G>A (p.Cys597Tyr) c.1112G>A (p.Cys371Tyr) c.1697G>A (p.Cys566Tyr) c.1566G>A (n.1566G>A) c.374G>A (p.Cys125Tyr) c.947G>A (p.Cys316Tyr) c.1625G>A (p.Cys542Tyr) c.1748G>A (p.Cys583Tyr) c.1022G>A (p.Cys341Tyr) c.1628G>A (p.Cys543Tyr) n.2423+2466C>T n.1987G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539603G>C	CA376072671	CACNB2,NSUN6	c.1718G>C (p.Cys573Ser) c.1583G>C (p.Cys528Ser) c.1706G>C (p.Cys569Ser) c.1778G>C (p.Cys593Ser) c.1862G>C (p.Cys621Ser) c.1700G>C (p.Cys567Ser) c.1487G>C (p.Cys496Ser) c.1664G>C (p.Cys555Ser) c.1003G>C (n.1003G>C) c.1604G>C (p.Cys535Ser) c.1136G>C (n.1136G>C) c.1419G>C (n.1419G>C) c.1101G>C (n.1101G>C) c.1682G>C (p.Cys561Ser) c.962G>C (n.962G>C) c.1790G>C (p.Cys597Ser) c.1112G>C (p.Cys371Ser) c.1697G>C (p.Cys566Ser) c.1566G>C (n.1566G>C) c.374G>C (p.Cys125Ser) c.947G>C (p.Cys316Ser) c.1625G>C (p.Cys542Ser) c.1748G>C (p.Cys583Ser) c.1022G>C (p.Cys341Ser) c.1628G>C (p.Cys543Ser) n.2423+2466C>G n.1987G>C
10	g.18539603G=	CA1894174021	CACNB2,NSUN6	c.1718G= (p.Cys573=) c.1583G= (p.Cys528=) c.1706G= (p.Cys569=) c.1778G= (p.Cys593=) c.1862G= (p.Cys621=) c.1700G= (p.Cys567=) c.1487G= (p.Cys496=) c.1664G= (p.Cys555=) c.1003G= (n.1003G=) c.1604G= (p.Cys535=) c.1136G= (n.1136G=) c.1419G= (n.1419G=) c.1101G= (n.1101G=) c.1682G= (p.Cys561=) c.962G= (n.962G=) c.1790G= (p.Cys597=) c.1112G= (p.Cys371=) c.1697G= (p.Cys566=) c.1566G= (n.1566G=) c.374G= (p.Cys125=) c.947G= (p.Cys316=) c.1625G= (p.Cys542=) c.1748G= (p.Cys583=) c.1022G= (p.Cys341=) c.1628G= (p.Cys543=) n.2423+2466C= n.1987G=
10	g.18539603G>T	CA376072672	CACNB2,NSUN6	c.1718G>T (p.Cys573Phe) c.1583G>T (p.Cys528Phe) c.1706G>T (p.Cys569Phe) c.1778G>T (p.Cys593Phe) c.1862G>T (p.Cys621Phe) c.1700G>T (p.Cys567Phe) c.1487G>T (p.Cys496Phe) c.1664G>T (p.Cys555Phe) c.1003G>T (n.1003G>T) c.1604G>T (p.Cys535Phe) c.1136G>T (n.1136G>T) c.1419G>T (n.1419G>T) c.1101G>T (n.1101G>T) c.1682G>T (p.Cys561Phe) c.962G>T (n.962G>T) c.1790G>T (p.Cys597Phe) c.1112G>T (p.Cys371Phe) c.1697G>T (p.Cys566Phe) c.1566G>T (n.1566G>T) c.374G>T (p.Cys125Phe) c.947G>T (p.Cys316Phe) c.1625G>T (p.Cys542Phe) c.1748G>T (p.Cys583Phe) c.1022G>T (p.Cys341Phe) c.1628G>T (p.Cys543Phe) n.2423+2466C>A n.1987G>T
10	g.18539604C>A	CA376072673	CACNB2,NSUN6	c.1719C>A (p.Cys573Ter) c.1584C>A (p.Cys528Ter) c.1707C>A (p.Cys569Ter) c.1779C>A (p.Cys593Ter) c.1863C>A (p.Cys621Ter) c.1701C>A (p.Cys567Ter) c.1488C>A (p.Cys496Ter) c.1665C>A (p.Cys555Ter) c.1004C>A (n.1004C>A) c.1605C>A (p.Cys535Ter) c.1137C>A (n.1137C>A) c.1420C>A (n.1420C>A) c.1102C>A (n.1102C>A) c.1683C>A (p.Cys561Ter) c.963C>A (n.963C>A) c.1791C>A (p.Cys597Ter) c.1113C>A (p.Cys371Ter) c.1698C>A (p.Cys566Ter) c.1567C>A (n.1567C>A) c.375C>A (p.Cys125Ter) c.948C>A (p.Cys316Ter) c.1626C>A (p.Cys542Ter) c.1749C>A (p.Cys583Ter) c.1023C>A (p.Cys341Ter) c.1629C>A (p.Cys543Ter) n.2423+2465G>T n.1988C>A	dbSNP
10	g.18539604C=	CA1894174033	CACNB2,NSUN6	c.1719C= (p.Cys573=) c.1584C= (p.Cys528=) c.1707C= (p.Cys569=) c.1779C= (p.Cys593=) c.1863C= (p.Cys621=) c.1701C= (p.Cys567=) c.1488C= (p.Cys496=) c.1665C= (p.Cys555=) c.1004C= (n.1004C=) c.1605C= (p.Cys535=) c.1137C= (n.1137C=) c.1420C= (n.1420C=) c.1102C= (n.1102C=) c.1683C= (p.Cys561=) c.963C= (n.963C=) c.1791C= (p.Cys597=) c.1113C= (p.Cys371=) c.1698C= (p.Cys566=) c.1567C= (n.1567C=) c.375C= (p.Cys125=) c.948C= (p.Cys316=) c.1626C= (p.Cys542=) c.1749C= (p.Cys583=) c.1023C= (p.Cys341=) c.1629C= (p.Cys543=) n.2423+2465G= n.1988C=
10	g.18539604C>G	CA376072675	CACNB2,NSUN6	c.1719C>G (p.Cys573Trp) c.1584C>G (p.Cys528Trp) c.1707C>G (p.Cys569Trp) c.1779C>G (p.Cys593Trp) c.1863C>G (p.Cys621Trp) c.1701C>G (p.Cys567Trp) c.1488C>G (p.Cys496Trp) c.1665C>G (p.Cys555Trp) c.1004C>G (n.1004C>G) c.1605C>G (p.Cys535Trp) c.1137C>G (n.1137C>G) c.1420C>G (n.1420C>G) c.1102C>G (n.1102C>G) c.1683C>G (p.Cys561Trp) c.963C>G (n.963C>G) c.1791C>G (p.Cys597Trp) c.1113C>G (p.Cys371Trp) c.1698C>G (p.Cys566Trp) c.1567C>G (n.1567C>G) c.375C>G (p.Cys125Trp) c.948C>G (p.Cys316Trp) c.1626C>G (p.Cys542Trp) c.1749C>G (p.Cys583Trp) c.1023C>G (p.Cys341Trp) c.1629C>G (p.Cys543Trp) n.2423+2465G>C n.1988C>G	COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539604C>T	CA468649670	CACNB2,NSUN6	c.1719C>T (p.Cys573=) c.1584C>T (p.Cys528=) c.1707C>T (p.Cys569=) c.1779C>T (p.Cys593=) c.1863C>T (p.Cys621=) c.1701C>T (p.Cys567=) c.1488C>T (p.Cys496=) c.1665C>T (p.Cys555=) c.1004C>T (n.1004C>T) c.1605C>T (p.Cys535=) c.1137C>T (n.1137C>T) c.1420C>T (n.1420C>T) c.1102C>T (n.1102C>T) c.1683C>T (p.Cys561=) c.963C>T (n.963C>T) c.1791C>T (p.Cys597=) c.1113C>T (p.Cys371=) c.1698C>T (p.Cys566=) c.1567C>T (n.1567C>T) c.375C>T (p.Cys125=) c.948C>T (p.Cys316=) c.1626C>T (p.Cys542=) c.1749C>T (p.Cys583=) c.1023C>T (p.Cys341=) c.1629C>T (p.Cys543=) n.2423+2465G>A n.1988C>T
10	g.18539604dup	CA2608435702	CACNB2,NSUN6	c.1719dup (p.Asn574GlnfsTer8) c.1584dup (p.Asn529GlnfsTer8) c.1707dup (p.Asn570GlnfsTer8) c.1779dup (p.Asn594GlnfsTer8) c.1863dup (p.Asn622GlnfsTer8) c.1701dup (p.Asn568GlnfsTer8) c.1488dup (p.Asn497GlnfsTer8) c.1665dup (p.Asn556GlnfsTer8) c.1004dup (n.1004dup) c.1605dup (p.Asn536GlnfsTer8) c.1137dup (n.1137dup) c.1420dup (n.1420dup) c.1102dup (n.1102dup) c.1683dup (p.Asn562GlnfsTer8) c.963dup (n.963dup) c.1791dup (p.Asn598GlnfsTer8) c.1113dup (p.Asn372GlnfsTer8) c.1698dup (p.Asn567GlnfsTer8) c.1567dup (n.1567dup) c.375dup (p.Asn126GlnfsTer8) c.948dup (p.Asn317GlnfsTer8) c.1626dup (p.Asn543GlnfsTer8) c.1749dup (p.Asn584GlnfsTer8) c.1023dup (p.Asn342GlnfsTer8) c.1629dup (p.Asn544GlnfsTer8) n.2423+2465dup n.1988dup	gnomAD v4
10	g.18539607_18539609dup	CA662520843	CACNB2,NSUN6	c.1722_1724dup (p.Asn574_Lys575insAsn) c.1587_1589dup (p.Asn529_Lys530insAsn) c.1710_1712dup (p.Asn570_Lys571insAsn) c.1782_1784dup (p.Asn594_Lys595insAsn) c.1866_1868dup (p.Asn622_Lys623insAsn) c.1704_1706dup (p.Asn568_Lys569insAsn) c.1491_1493dup (p.Asn497_Lys498insAsn) c.1668_1670dup (p.Asn556_Lys557insAsn) c.1007_1009dup (n.1007_1009dup) c.1608_1610dup (p.Asn536_Lys537insAsn) c.1140_1142dup (n.1140_1142dup) c.1423_1425dup (n.1423_1425dup) c.1105_1107dup (n.1105_1107dup) c.1686_1688dup (p.Asn562_Lys563insAsn) c.966_968dup (n.966_968dup) c.1794_1796dup (p.Asn598_Lys599insAsn) c.1116_1118dup (p.Asn372_Lys373insAsn) c.1701_1703dup (p.Asn567_Lys568insAsn) c.1570_1572dup (n.1570_1572dup) c.378_380dup (p.Asn126_Lys127insAsn) c.951_953dup (p.Asn317_Lys318insAsn) c.1629_1631dup (p.Asn543_Lys544insAsn) c.1752_1754dup (p.Asn584_Lys585insAsn) c.1026_1028dup (p.Asn342_Lys343insAsn) c.1632_1634dup (p.Asn544_Lys545insAsn) n.2423+2463_2423+2465dup n.1991_1993dup	dbSNP
10	g.18539605A=	CA1894174038	CACNB2,NSUN6	c.1720A= (p.Asn574=) c.1585A= (p.Asn529=) c.1708A= (p.Asn570=) c.1780A= (p.Asn594=) c.1864A= (p.Asn622=) c.1702A= (p.Asn568=) c.1489A= (p.Asn497=) c.1666A= (p.Asn556=) c.1005A= (n.1005A=) c.1606A= (p.Asn536=) c.1138A= (n.1138A=) c.1421A= (n.1421A=) c.1103A= (n.1103A=) c.1684A= (p.Asn562=) c.964A= (n.964A=) c.1792A= (p.Asn598=) c.1114A= (p.Asn372=) c.1699A= (p.Asn567=) c.1568A= (n.1568A=) c.376A= (p.Asn126=) c.949A= (p.Asn317=) c.1627A= (p.Asn543=) c.1750A= (p.Asn584=) c.1024A= (p.Asn342=) c.1630A= (p.Asn544=) n.2423+2464T= n.1989A=
10	g.18539605A>C	CA376072680	CACNB2,NSUN6	c.1720A>C (p.Asn574His) c.1585A>C (p.Asn529His) c.1708A>C (p.Asn570His) c.1780A>C (p.Asn594His) c.1864A>C (p.Asn622His) c.1702A>C (p.Asn568His) c.1489A>C (p.Asn497His) c.1666A>C (p.Asn556His) c.1005A>C (n.1005A>C) c.1606A>C (p.Asn536His) c.1138A>C (n.1138A>C) c.1421A>C (n.1421A>C) c.1103A>C (n.1103A>C) c.1684A>C (p.Asn562His) c.964A>C (n.964A>C) c.1792A>C (p.Asn598His) c.1114A>C (p.Asn372His) c.1699A>C (p.Asn567His) c.1568A>C (n.1568A>C) c.376A>C (p.Asn126His) c.949A>C (p.Asn317His) c.1627A>C (p.Asn543His) c.1750A>C (p.Asn584His) c.1024A>C (p.Asn342His) c.1630A>C (p.Asn544His) n.2423+2464T>G n.1989A>C	dbSNP gnomAD v2 gnomAD v4
10	g.18539605A>G	CA376072677	CACNB2,NSUN6	c.1720A>G (p.Asn574Asp) c.1585A>G (p.Asn529Asp) c.1708A>G (p.Asn570Asp) c.1780A>G (p.Asn594Asp) c.1864A>G (p.Asn622Asp) c.1702A>G (p.Asn568Asp) c.1489A>G (p.Asn497Asp) c.1666A>G (p.Asn556Asp) c.1005A>G (n.1005A>G) c.1606A>G (p.Asn536Asp) c.1138A>G (n.1138A>G) c.1421A>G (n.1421A>G) c.1103A>G (n.1103A>G) c.1684A>G (p.Asn562Asp) c.964A>G (n.964A>G) c.1792A>G (p.Asn598Asp) c.1114A>G (p.Asn372Asp) c.1699A>G (p.Asn567Asp) c.1568A>G (n.1568A>G) c.376A>G (p.Asn126Asp) c.949A>G (p.Asn317Asp) c.1627A>G (p.Asn543Asp) c.1750A>G (p.Asn584Asp) c.1024A>G (p.Asn342Asp) c.1630A>G (p.Asn544Asp) n.2423+2464T>C n.1989A>G
10	g.18539605A>T	CA376072679	CACNB2,NSUN6	c.1720A>T (p.Asn574Tyr) c.1585A>T (p.Asn529Tyr) c.1708A>T (p.Asn570Tyr) c.1780A>T (p.Asn594Tyr) c.1864A>T (p.Asn622Tyr) c.1702A>T (p.Asn568Tyr) c.1489A>T (p.Asn497Tyr) c.1666A>T (p.Asn556Tyr) c.1005A>T (n.1005A>T) c.1606A>T (p.Asn536Tyr) c.1138A>T (n.1138A>T) c.1421A>T (n.1421A>T) c.1103A>T (n.1103A>T) c.1684A>T (p.Asn562Tyr) c.964A>T (n.964A>T) c.1792A>T (p.Asn598Tyr) c.1114A>T (p.Asn372Tyr) c.1699A>T (p.Asn567Tyr) c.1568A>T (n.1568A>T) c.376A>T (p.Asn126Tyr) c.949A>T (p.Asn317Tyr) c.1627A>T (p.Asn543Tyr) c.1750A>T (p.Asn584Tyr) c.1024A>T (p.Asn342Tyr) c.1630A>T (p.Asn544Tyr) n.2423+2464T>A n.1989A>T
10	g.18539606A>C	CA376072682	CACNB2,NSUN6	c.1721A>C (p.Asn574Thr) c.1586A>C (p.Asn529Thr) c.1709A>C (p.Asn570Thr) c.1781A>C (p.Asn594Thr) c.1865A>C (p.Asn622Thr) c.1703A>C (p.Asn568Thr) c.1490A>C (p.Asn497Thr) c.1667A>C (p.Asn556Thr) c.1006A>C (n.1006A>C) c.1607A>C (p.Asn536Thr) c.1139A>C (n.1139A>C) c.1422A>C (n.1422A>C) c.1104A>C (n.1104A>C) c.1685A>C (p.Asn562Thr) c.965A>C (n.965A>C) c.1793A>C (p.Asn598Thr) c.1115A>C (p.Asn372Thr) c.1700A>C (p.Asn567Thr) c.1569A>C (n.1569A>C) c.377A>C (p.Asn126Thr) c.950A>C (p.Asn317Thr) c.1628A>C (p.Asn543Thr) c.1751A>C (p.Asn584Thr) c.1025A>C (p.Asn342Thr) c.1631A>C (p.Asn544Thr) n.2423+2463T>G n.1990A>C
10	g.18539606A>G	CA376072684	CACNB2,NSUN6	c.1721A>G (p.Asn574Ser) c.1586A>G (p.Asn529Ser) c.1709A>G (p.Asn570Ser) c.1781A>G (p.Asn594Ser) c.1865A>G (p.Asn622Ser) c.1703A>G (p.Asn568Ser) c.1490A>G (p.Asn497Ser) c.1667A>G (p.Asn556Ser) c.1006A>G (n.1006A>G) c.1607A>G (p.Asn536Ser) c.1139A>G (n.1139A>G) c.1422A>G (n.1422A>G) c.1104A>G (n.1104A>G) c.1685A>G (p.Asn562Ser) c.965A>G (n.965A>G) c.1793A>G (p.Asn598Ser) c.1115A>G (p.Asn372Ser) c.1700A>G (p.Asn567Ser) c.1569A>G (n.1569A>G) c.377A>G (p.Asn126Ser) c.950A>G (p.Asn317Ser) c.1628A>G (p.Asn543Ser) c.1751A>G (p.Asn584Ser) c.1025A>G (p.Asn342Ser) c.1631A>G (p.Asn544Ser) n.2423+2463T>C n.1990A>G	COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539606A>T	CA376072686	CACNB2,NSUN6	c.1721A>T (p.Asn574Ile) c.1586A>T (p.Asn529Ile) c.1709A>T (p.Asn570Ile) c.1781A>T (p.Asn594Ile) c.1865A>T (p.Asn622Ile) c.1703A>T (p.Asn568Ile) c.1490A>T (p.Asn497Ile) c.1667A>T (p.Asn556Ile) c.1006A>T (n.1006A>T) c.1607A>T (p.Asn536Ile) c.1139A>T (n.1139A>T) c.1422A>T (n.1422A>T) c.1104A>T (n.1104A>T) c.1685A>T (p.Asn562Ile) c.965A>T (n.965A>T) c.1793A>T (p.Asn598Ile) c.1115A>T (p.Asn372Ile) c.1700A>T (p.Asn567Ile) c.1569A>T (n.1569A>T) c.377A>T (p.Asn126Ile) c.950A>T (p.Asn317Ile) c.1628A>T (p.Asn543Ile) c.1751A>T (p.Asn584Ile) c.1025A>T (p.Asn342Ile) c.1631A>T (p.Asn544Ile) n.2423+2463T>A n.1990A>T
10	g.18539607C>A	CA376072687	CACNB2,NSUN6	c.1722C>A (p.Asn574Lys) c.1587C>A (p.Asn529Lys) c.1710C>A (p.Asn570Lys) c.1782C>A (p.Asn594Lys) c.1866C>A (p.Asn622Lys) c.1704C>A (p.Asn568Lys) c.1491C>A (p.Asn497Lys) c.1668C>A (p.Asn556Lys) c.1007C>A (n.1007C>A) c.1608C>A (p.Asn536Lys) c.1140C>A (n.1140C>A) c.1423C>A (n.1423C>A) c.1105C>A (n.1105C>A) c.1686C>A (p.Asn562Lys) c.966C>A (n.966C>A) c.1794C>A (p.Asn598Lys) c.1116C>A (p.Asn372Lys) c.1701C>A (p.Asn567Lys) c.1570C>A (n.1570C>A) c.378C>A (p.Asn126Lys) c.951C>A (p.Asn317Lys) c.1629C>A (p.Asn543Lys) c.1752C>A (p.Asn584Lys) c.1026C>A (p.Asn342Lys) c.1632C>A (p.Asn544Lys) n.2423+2462G>T n.1991C>A
10	g.18539607C=	CA1894174041	CACNB2,NSUN6	c.1722C= (p.Asn574=) c.1587C= (p.Asn529=) c.1710C= (p.Asn570=) c.1782C= (p.Asn594=) c.1866C= (p.Asn622=) c.1704C= (p.Asn568=) c.1491C= (p.Asn497=) c.1668C= (p.Asn556=) c.1007C= (n.1007C=) c.1608C= (p.Asn536=) c.1140C= (n.1140C=) c.1423C= (n.1423C=) c.1105C= (n.1105C=) c.1686C= (p.Asn562=) c.966C= (n.966C=) c.1794C= (p.Asn598=) c.1116C= (p.Asn372=) c.1701C= (p.Asn567=) c.1570C= (n.1570C=) c.378C= (p.Asn126=) c.951C= (p.Asn317=) c.1629C= (p.Asn543=) c.1752C= (p.Asn584=) c.1026C= (p.Asn342=) c.1632C= (p.Asn544=) n.2423+2462G= n.1991C=
10	g.18539607C>G	CA376072689	CACNB2,NSUN6	c.1722C>G (p.Asn574Lys) c.1587C>G (p.Asn529Lys) c.1710C>G (p.Asn570Lys) c.1782C>G (p.Asn594Lys) c.1866C>G (p.Asn622Lys) c.1704C>G (p.Asn568Lys) c.1491C>G (p.Asn497Lys) c.1668C>G (p.Asn556Lys) c.1007C>G (n.1007C>G) c.1608C>G (p.Asn536Lys) c.1140C>G (n.1140C>G) c.1423C>G (n.1423C>G) c.1105C>G (n.1105C>G) c.1686C>G (p.Asn562Lys) c.966C>G (n.966C>G) c.1794C>G (p.Asn598Lys) c.1116C>G (p.Asn372Lys) c.1701C>G (p.Asn567Lys) c.1570C>G (n.1570C>G) c.378C>G (p.Asn126Lys) c.951C>G (p.Asn317Lys) c.1629C>G (p.Asn543Lys) c.1752C>G (p.Asn584Lys) c.1026C>G (p.Asn342Lys) c.1632C>G (p.Asn544Lys) n.2423+2462G>C n.1991C>G	dbSNP
10	g.18539607C>T	CA468649674	CACNB2,NSUN6	c.1722C>T (p.Asn574=) c.1587C>T (p.Asn529=) c.1710C>T (p.Asn570=) c.1782C>T (p.Asn594=) c.1866C>T (p.Asn622=) c.1704C>T (p.Asn568=) c.1491C>T (p.Asn497=) c.1668C>T (p.Asn556=) c.1007C>T (n.1007C>T) c.1608C>T (p.Asn536=) c.1140C>T (n.1140C>T) c.1423C>T (n.1423C>T) c.1105C>T (n.1105C>T) c.1686C>T (p.Asn562=) c.966C>T (n.966C>T) c.1794C>T (p.Asn598=) c.1116C>T (p.Asn372=) c.1701C>T (p.Asn567=) c.1570C>T (n.1570C>T) c.378C>T (p.Asn126=) c.951C>T (p.Asn317=) c.1629C>T (p.Asn543=) c.1752C>T (p.Asn584=) c.1026C>T (p.Asn342=) c.1632C>T (p.Asn544=) n.2423+2462G>A n.1991C>T
10	g.18539608A=	CA1894174043	CACNB2,NSUN6	c.1723A= (p.Lys575=) c.1588A= (p.Lys530=) c.1711A= (p.Lys571=) c.1783A= (p.Lys595=) c.1867A= (p.Lys623=) c.1705A= (p.Lys569=) c.1492A= (p.Lys498=) c.1669A= (p.Lys557=) c.1008A= (n.1008A=) c.1609A= (p.Lys537=) c.1141A= (n.1141A=) c.1424A= (n.1424A=) c.1106A= (n.1106A=) c.1687A= (p.Lys563=) c.967A= (n.967A=) c.1795A= (p.Lys599=) c.1117A= (p.Lys373=) c.1702A= (p.Lys568=) c.1571A= (n.1571A=) c.379A= (p.Lys127=) c.952A= (p.Lys318=) c.1630A= (p.Lys544=) c.1753A= (p.Lys585=) c.1027A= (p.Lys343=) c.1633A= (p.Lys545=) n.2423+2461T= n.1992A=
10	g.18539608A>C	CA376072693	CACNB2,NSUN6	c.1723A>C (p.Lys575Gln) c.1588A>C (p.Lys530Gln) c.1711A>C (p.Lys571Gln) c.1783A>C (p.Lys595Gln) c.1867A>C (p.Lys623Gln) c.1705A>C (p.Lys569Gln) c.1492A>C (p.Lys498Gln) c.1669A>C (p.Lys557Gln) c.1008A>C (n.1008A>C) c.1609A>C (p.Lys537Gln) c.1141A>C (n.1141A>C) c.1424A>C (n.1424A>C) c.1106A>C (n.1106A>C) c.1687A>C (p.Lys563Gln) c.967A>C (n.967A>C) c.1795A>C (p.Lys599Gln) c.1117A>C (p.Lys373Gln) c.1702A>C (p.Lys568Gln) c.1571A>C (n.1571A>C) c.379A>C (p.Lys127Gln) c.952A>C (p.Lys318Gln) c.1630A>C (p.Lys544Gln) c.1753A>C (p.Lys585Gln) c.1027A>C (p.Lys343Gln) c.1633A>C (p.Lys545Gln) n.2423+2461T>G n.1992A>C	dbSNP
10	g.18539608A>G	CA376072691	CACNB2,NSUN6	c.1723A>G (p.Lys575Glu) c.1588A>G (p.Lys530Glu) c.1711A>G (p.Lys571Glu) c.1783A>G (p.Lys595Glu) c.1867A>G (p.Lys623Glu) c.1705A>G (p.Lys569Glu) c.1492A>G (p.Lys498Glu) c.1669A>G (p.Lys557Glu) c.1008A>G (n.1008A>G) c.1609A>G (p.Lys537Glu) c.1141A>G (n.1141A>G) c.1424A>G (n.1424A>G) c.1106A>G (n.1106A>G) c.1687A>G (p.Lys563Glu) c.967A>G (n.967A>G) c.1795A>G (p.Lys599Glu) c.1117A>G (p.Lys373Glu) c.1702A>G (p.Lys568Glu) c.1571A>G (n.1571A>G) c.379A>G (p.Lys127Glu) c.952A>G (p.Lys318Glu) c.1630A>G (p.Lys544Glu) c.1753A>G (p.Lys585Glu) c.1027A>G (p.Lys343Glu) c.1633A>G (p.Lys545Glu) n.2423+2461T>C n.1992A>G
10	g.18539608A>T	CA376072692	CACNB2,NSUN6	c.1723A>T (p.Lys575Ter) c.1588A>T (p.Lys530Ter) c.1711A>T (p.Lys571Ter) c.1783A>T (p.Lys595Ter) c.1867A>T (p.Lys623Ter) c.1705A>T (p.Lys569Ter) c.1492A>T (p.Lys498Ter) c.1669A>T (p.Lys557Ter) c.1008A>T (n.1008A>T) c.1609A>T (p.Lys537Ter) c.1141A>T (n.1141A>T) c.1424A>T (n.1424A>T) c.1106A>T (n.1106A>T) c.1687A>T (p.Lys563Ter) c.967A>T (n.967A>T) c.1795A>T (p.Lys599Ter) c.1117A>T (p.Lys373Ter) c.1702A>T (p.Lys568Ter) c.1571A>T (n.1571A>T) c.379A>T (p.Lys127Ter) c.952A>T (p.Lys318Ter) c.1630A>T (p.Lys544Ter) c.1753A>T (p.Lys585Ter) c.1027A>T (p.Lys343Ter) c.1633A>T (p.Lys545Ter) n.2423+2461T>A n.1992A>T	dbSNP
10	g.18539609A=	CA1894174048	CACNB2,NSUN6	c.1724A= (p.Lys575=) c.1589A= (p.Lys530=) c.1712A= (p.Lys571=) c.1784A= (p.Lys595=) c.1868A= (p.Lys623=) c.1706A= (p.Lys569=) c.1493A= (p.Lys498=) c.1670A= (p.Lys557=) c.1009A= (n.1009A=) c.1610A= (p.Lys537=) c.1142A= (n.1142A=) c.1425A= (n.1425A=) c.1107A= (n.1107A=) c.1688A= (p.Lys563=) c.968A= (n.968A=) c.1796A= (p.Lys599=) c.1118A= (p.Lys373=) c.1703A= (p.Lys568=) c.1572A= (n.1572A=) c.380A= (p.Lys127=) c.953A= (p.Lys318=) c.1631A= (p.Lys544=) c.1754A= (p.Lys585=) c.1028A= (p.Lys343=) c.1634A= (p.Lys545=) n.2423+2460T= n.1993A=
10	g.18539609A>C	CA376072696	CACNB2,NSUN6	c.1724A>C (p.Lys575Thr) c.1589A>C (p.Lys530Thr) c.1712A>C (p.Lys571Thr) c.1784A>C (p.Lys595Thr) c.1868A>C (p.Lys623Thr) c.1706A>C (p.Lys569Thr) c.1493A>C (p.Lys498Thr) c.1670A>C (p.Lys557Thr) c.1009A>C (n.1009A>C) c.1610A>C (p.Lys537Thr) c.1142A>C (n.1142A>C) c.1425A>C (n.1425A>C) c.1107A>C (n.1107A>C) c.1688A>C (p.Lys563Thr) c.968A>C (n.968A>C) c.1796A>C (p.Lys599Thr) c.1118A>C (p.Lys373Thr) c.1703A>C (p.Lys568Thr) c.1572A>C (n.1572A>C) c.380A>C (p.Lys127Thr) c.953A>C (p.Lys318Thr) c.1631A>C (p.Lys544Thr) c.1754A>C (p.Lys585Thr) c.1028A>C (p.Lys343Thr) c.1634A>C (p.Lys545Thr) n.2423+2460T>G n.1993A>C
10	g.18539609A>G	CA376072697	CACNB2,NSUN6	c.1724A>G (p.Lys575Arg) c.1589A>G (p.Lys530Arg) c.1712A>G (p.Lys571Arg) c.1784A>G (p.Lys595Arg) c.1868A>G (p.Lys623Arg) c.1706A>G (p.Lys569Arg) c.1493A>G (p.Lys498Arg) c.1670A>G (p.Lys557Arg) c.1009A>G (n.1009A>G) c.1610A>G (p.Lys537Arg) c.1142A>G (n.1142A>G) c.1425A>G (n.1425A>G) c.1107A>G (n.1107A>G) c.1688A>G (p.Lys563Arg) c.968A>G (n.968A>G) c.1796A>G (p.Lys599Arg) c.1118A>G (p.Lys373Arg) c.1703A>G (p.Lys568Arg) c.1572A>G (n.1572A>G) c.380A>G (p.Lys127Arg) c.953A>G (p.Lys318Arg) c.1631A>G (p.Lys544Arg) c.1754A>G (p.Lys585Arg) c.1028A>G (p.Lys343Arg) c.1634A>G (p.Lys545Arg) n.2423+2460T>C n.1993A>G	gnomAD v4
10	g.18539609A>T	CA376072699	CACNB2,NSUN6	c.1724A>T (p.Lys575Met) c.1589A>T (p.Lys530Met) c.1712A>T (p.Lys571Met) c.1784A>T (p.Lys595Met) c.1868A>T (p.Lys623Met) c.1706A>T (p.Lys569Met) c.1493A>T (p.Lys498Met) c.1670A>T (p.Lys557Met) c.1009A>T (n.1009A>T) c.1610A>T (p.Lys537Met) c.1142A>T (n.1142A>T) c.1425A>T (n.1425A>T) c.1107A>T (n.1107A>T) c.1688A>T (p.Lys563Met) c.968A>T (n.968A>T) c.1796A>T (p.Lys599Met) c.1118A>T (p.Lys373Met) c.1703A>T (p.Lys568Met) c.1572A>T (n.1572A>T) c.380A>T (p.Lys127Met) c.953A>T (p.Lys318Met) c.1631A>T (p.Lys544Met) c.1754A>T (p.Lys585Met) c.1028A>T (p.Lys343Met) c.1634A>T (p.Lys545Met) n.2423+2460T>A n.1993A>T	dbSNP
10	g.18539610G>A	CA468649675	CACNB2,NSUN6	c.1725G>A (p.Lys575=) c.1590G>A (p.Lys530=) c.1713G>A (p.Lys571=) c.1785G>A (p.Lys595=) c.1869G>A (p.Lys623=) c.1707G>A (p.Lys569=) c.1494G>A (p.Lys498=) c.1671G>A (p.Lys557=) c.1010G>A (n.1010G>A) c.1611G>A (p.Lys537=) c.1143G>A (n.1143G>A) c.1426G>A (n.1426G>A) c.1108G>A (n.1108G>A) c.1689G>A (p.Lys563=) c.969G>A (n.969G>A) c.1797G>A (p.Lys599=) c.1119G>A (p.Lys373=) c.1704G>A (p.Lys568=) c.1573G>A (n.1573G>A) c.381G>A (p.Lys127=) c.954G>A (p.Lys318=) c.1632G>A (p.Lys544=) c.1755G>A (p.Lys585=) c.1029G>A (p.Lys343=) c.1635G>A (p.Lys545=) n.2423+2459C>T n.1994G>A	dbSNP gnomAD v4
10	g.18539610G>C	CA376072700	CACNB2,NSUN6	c.1725G>C (p.Lys575Asn) c.1590G>C (p.Lys530Asn) c.1713G>C (p.Lys571Asn) c.1785G>C (p.Lys595Asn) c.1869G>C (p.Lys623Asn) c.1707G>C (p.Lys569Asn) c.1494G>C (p.Lys498Asn) c.1671G>C (p.Lys557Asn) c.1010G>C (n.1010G>C) c.1611G>C (p.Lys537Asn) c.1143G>C (n.1143G>C) c.1426G>C (n.1426G>C) c.1108G>C (n.1108G>C) c.1689G>C (p.Lys563Asn) c.969G>C (n.969G>C) c.1797G>C (p.Lys599Asn) c.1119G>C (p.Lys373Asn) c.1704G>C (p.Lys568Asn) c.1573G>C (n.1573G>C) c.381G>C (p.Lys127Asn) c.954G>C (p.Lys318Asn) c.1632G>C (p.Lys544Asn) c.1755G>C (p.Lys585Asn) c.1029G>C (p.Lys343Asn) c.1635G>C (p.Lys545Asn) n.2423+2459C>G n.1994G>C
10	g.18539610G=	CA1894174051	CACNB2,NSUN6	c.1725G= (p.Lys575=) c.1590G= (p.Lys530=) c.1713G= (p.Lys571=) c.1785G= (p.Lys595=) c.1869G= (p.Lys623=) c.1707G= (p.Lys569=) c.1494G= (p.Lys498=) c.1671G= (p.Lys557=) c.1010G= (n.1010G=) c.1611G= (p.Lys537=) c.1143G= (n.1143G=) c.1426G= (n.1426G=) c.1108G= (n.1108G=) c.1689G= (p.Lys563=) c.969G= (n.969G=) c.1797G= (p.Lys599=) c.1119G= (p.Lys373=) c.1704G= (p.Lys568=) c.1573G= (n.1573G=) c.381G= (p.Lys127=) c.954G= (p.Lys318=) c.1632G= (p.Lys544=) c.1755G= (p.Lys585=) c.1029G= (p.Lys343=) c.1635G= (p.Lys545=) n.2423+2459C= n.1994G=
10	g.18539610G>T	CA376072701	CACNB2,NSUN6	c.1725G>T (p.Lys575Asn) c.1590G>T (p.Lys530Asn) c.1713G>T (p.Lys571Asn) c.1785G>T (p.Lys595Asn) c.1869G>T (p.Lys623Asn) c.1707G>T (p.Lys569Asn) c.1494G>T (p.Lys498Asn) c.1671G>T (p.Lys557Asn) c.1010G>T (n.1010G>T) c.1611G>T (p.Lys537Asn) c.1143G>T (n.1143G>T) c.1426G>T (n.1426G>T) c.1108G>T (n.1108G>T) c.1689G>T (p.Lys563Asn) c.969G>T (n.969G>T) c.1797G>T (p.Lys599Asn) c.1119G>T (p.Lys373Asn) c.1704G>T (p.Lys568Asn) c.1573G>T (n.1573G>T) c.381G>T (p.Lys127Asn) c.954G>T (p.Lys318Asn) c.1632G>T (p.Lys544Asn) c.1755G>T (p.Lys585Asn) c.1029G>T (p.Lys343Asn) c.1635G>T (p.Lys545Asn) n.2423+2459C>A n.1994G>T	COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539611C>A	CA376072704	CACNB2,NSUN6	c.1726C>A (p.Gln576Lys) c.1591C>A (p.Gln531Lys) c.1714C>A (p.Gln572Lys) c.1786C>A (p.Gln596Lys) c.1870C>A (p.Gln624Lys) c.1708C>A (p.Gln570Lys) c.1495C>A (p.Gln499Lys) c.1672C>A (p.Gln558Lys) c.1011C>A (n.1011C>A) c.1612C>A (p.Gln538Lys) c.1144C>A (n.1144C>A) c.1427C>A (n.1427C>A) c.1109C>A (n.1109C>A) c.1690C>A (p.Gln564Lys) c.970C>A (n.970C>A) c.1798C>A (p.Gln600Lys) c.1120C>A (p.Gln374Lys) c.1705C>A (p.Gln569Lys) c.1574C>A (n.1574C>A) c.382C>A (p.Gln128Lys) c.955C>A (p.Gln319Lys) c.1633C>A (p.Gln545Lys) c.1756C>A (p.Gln586Lys) c.1030C>A (p.Gln344Lys) c.1636C>A (p.Gln546Lys) n.2423+2458G>T n.1995C>A
10	g.18539611C>G	CA376072706	CACNB2,NSUN6	c.1726C>G (p.Gln576Glu) c.1591C>G (p.Gln531Glu) c.1714C>G (p.Gln572Glu) c.1786C>G (p.Gln596Glu) c.1870C>G (p.Gln624Glu) c.1708C>G (p.Gln570Glu) c.1495C>G (p.Gln499Glu) c.1672C>G (p.Gln558Glu) c.1011C>G (n.1011C>G) c.1612C>G (p.Gln538Glu) c.1144C>G (n.1144C>G) c.1427C>G (n.1427C>G) c.1109C>G (n.1109C>G) c.1690C>G (p.Gln564Glu) c.970C>G (n.970C>G) c.1798C>G (p.Gln600Glu) c.1120C>G (p.Gln374Glu) c.1705C>G (p.Gln569Glu) c.1574C>G (n.1574C>G) c.382C>G (p.Gln128Glu) c.955C>G (p.Gln319Glu) c.1633C>G (p.Gln545Glu) c.1756C>G (p.Gln586Glu) c.1030C>G (p.Gln344Glu) c.1636C>G (p.Gln546Glu) n.2423+2458G>C n.1995C>G
10	g.18539611C>T	CA376072707	CACNB2,NSUN6	c.1726C>T (p.Gln576Ter) c.1591C>T (p.Gln531Ter) c.1714C>T (p.Gln572Ter) c.1786C>T (p.Gln596Ter) c.1870C>T (p.Gln624Ter) c.1708C>T (p.Gln570Ter) c.1495C>T (p.Gln499Ter) c.1672C>T (p.Gln558Ter) c.1011C>T (n.1011C>T) c.1612C>T (p.Gln538Ter) c.1144C>T (n.1144C>T) c.1427C>T (n.1427C>T) c.1109C>T (n.1109C>T) c.1690C>T (p.Gln564Ter) c.970C>T (n.970C>T) c.1798C>T (p.Gln600Ter) c.1120C>T (p.Gln374Ter) c.1705C>T (p.Gln569Ter) c.1574C>T (n.1574C>T) c.382C>T (p.Gln128Ter) c.955C>T (p.Gln319Ter) c.1633C>T (p.Gln545Ter) c.1756C>T (p.Gln586Ter) c.1030C>T (p.Gln344Ter) c.1636C>T (p.Gln546Ter) n.2423+2458G>A n.1995C>T
10	g.18539612A>C	CA376072709	CACNB2,NSUN6	c.1727A>C (p.Gln576Pro) c.1592A>C (p.Gln531Pro) c.1715A>C (p.Gln572Pro) c.1787A>C (p.Gln596Pro) c.1871A>C (p.Gln624Pro) c.1709A>C (p.Gln570Pro) c.1496A>C (p.Gln499Pro) c.1673A>C (p.Gln558Pro) c.1012A>C (n.1012A>C) c.1613A>C (p.Gln538Pro) c.1145A>C (n.1145A>C) c.1428A>C (n.1428A>C) c.1110A>C (n.1110A>C) c.1691A>C (p.Gln564Pro) c.971A>C (n.971A>C) c.1799A>C (p.Gln600Pro) c.1121A>C (p.Gln374Pro) c.1706A>C (p.Gln569Pro) c.1575A>C (n.1575A>C) c.383A>C (p.Gln128Pro) c.956A>C (p.Gln319Pro) c.1634A>C (p.Gln545Pro) c.1757A>C (p.Gln586Pro) c.1031A>C (p.Gln344Pro) c.1637A>C (p.Gln546Pro) n.2423+2457T>G n.1996A>C
10	g.18539612A>G	CA376072710	CACNB2,NSUN6	c.1727A>G (p.Gln576Arg) c.1592A>G (p.Gln531Arg) c.1715A>G (p.Gln572Arg) c.1787A>G (p.Gln596Arg) c.1871A>G (p.Gln624Arg) c.1709A>G (p.Gln570Arg) c.1496A>G (p.Gln499Arg) c.1673A>G (p.Gln558Arg) c.1012A>G (n.1012A>G) c.1613A>G (p.Gln538Arg) c.1145A>G (n.1145A>G) c.1428A>G (n.1428A>G) c.1110A>G (n.1110A>G) c.1691A>G (p.Gln564Arg) c.971A>G (n.971A>G) c.1799A>G (p.Gln600Arg) c.1121A>G (p.Gln374Arg) c.1706A>G (p.Gln569Arg) c.1575A>G (n.1575A>G) c.383A>G (p.Gln128Arg) c.956A>G (p.Gln319Arg) c.1634A>G (p.Gln545Arg) c.1757A>G (p.Gln586Arg) c.1031A>G (p.Gln344Arg) c.1637A>G (p.Gln546Arg) n.2423+2457T>C n.1996A>G
10	g.18539612A>T	CA376072712	CACNB2,NSUN6	c.1727A>T (p.Gln576Leu) c.1592A>T (p.Gln531Leu) c.1715A>T (p.Gln572Leu) c.1787A>T (p.Gln596Leu) c.1871A>T (p.Gln624Leu) c.1709A>T (p.Gln570Leu) c.1496A>T (p.Gln499Leu) c.1673A>T (p.Gln558Leu) c.1012A>T (n.1012A>T) c.1613A>T (p.Gln538Leu) c.1145A>T (n.1145A>T) c.1428A>T (n.1428A>T) c.1110A>T (n.1110A>T) c.1691A>T (p.Gln564Leu) c.971A>T (n.971A>T) c.1799A>T (p.Gln600Leu) c.1121A>T (p.Gln374Leu) c.1706A>T (p.Gln569Leu) c.1575A>T (n.1575A>T) c.383A>T (p.Gln128Leu) c.956A>T (p.Gln319Leu) c.1634A>T (p.Gln545Leu) c.1757A>T (p.Gln586Leu) c.1031A>T (p.Gln344Leu) c.1637A>T (p.Gln546Leu) n.2423+2457T>A n.1996A>T
10	g.18539613G>A	CA468649682	CACNB2,NSUN6	c.1728G>A (p.Gln576=) c.1593G>A (p.Gln531=) c.1716G>A (p.Gln572=) c.1788G>A (p.Gln596=) c.1872G>A (p.Gln624=) c.1710G>A (p.Gln570=) c.1497G>A (p.Gln499=) c.1674G>A (p.Gln558=) c.1013G>A (n.1013G>A) c.1614G>A (p.Gln538=) c.1146G>A (n.1146G>A) c.1429G>A (n.1429G>A) c.1111G>A (n.1111G>A) c.1692G>A (p.Gln564=) c.972G>A (n.972G>A) c.1800G>A (p.Gln600=) c.1122G>A (p.Gln374=) c.1707G>A (p.Gln569=) c.1576G>A (n.1576G>A) c.384G>A (p.Gln128=) c.957G>A (p.Gln319=) c.1635G>A (p.Gln545=) c.1758G>A (p.Gln586=) c.1032G>A (p.Gln344=) c.1638G>A (p.Gln546=) n.2423+2456C>T n.1997G>A
10	g.18539613G>C	CA376072714	CACNB2,NSUN6	c.1728G>C (p.Gln576His) c.1593G>C (p.Gln531His) c.1716G>C (p.Gln572His) c.1788G>C (p.Gln596His) c.1872G>C (p.Gln624His) c.1710G>C (p.Gln570His) c.1497G>C (p.Gln499His) c.1674G>C (p.Gln558His) c.1013G>C (n.1013G>C) c.1614G>C (p.Gln538His) c.1146G>C (n.1146G>C) c.1429G>C (n.1429G>C) c.1111G>C (n.1111G>C) c.1692G>C (p.Gln564His) c.972G>C (n.972G>C) c.1800G>C (p.Gln600His) c.1122G>C (p.Gln374His) c.1707G>C (p.Gln569His) c.1576G>C (n.1576G>C) c.384G>C (p.Gln128His) c.957G>C (p.Gln319His) c.1635G>C (p.Gln545His) c.1758G>C (p.Gln586His) c.1032G>C (p.Gln344His) c.1638G>C (p.Gln546His) n.2423+2456C>G n.1997G>C
10	g.18539613G>T	CA376072716	CACNB2,NSUN6	c.1728G>T (p.Gln576His) c.1593G>T (p.Gln531His) c.1716G>T (p.Gln572His) c.1788G>T (p.Gln596His) c.1872G>T (p.Gln624His) c.1710G>T (p.Gln570His) c.1497G>T (p.Gln499His) c.1674G>T (p.Gln558His) c.1013G>T (n.1013G>T) c.1614G>T (p.Gln538His) c.1146G>T (n.1146G>T) c.1429G>T (n.1429G>T) c.1111G>T (n.1111G>T) c.1692G>T (p.Gln564His) c.972G>T (n.972G>T) c.1800G>T (p.Gln600His) c.1122G>T (p.Gln374His) c.1707G>T (p.Gln569His) c.1576G>T (n.1576G>T) c.384G>T (p.Gln128His) c.957G>T (p.Gln319His) c.1635G>T (p.Gln545His) c.1758G>T (p.Gln586His) c.1032G>T (p.Gln344His) c.1638G>T (p.Gln546His) n.2423+2456C>A n.1997G>T
10	g.18539614C>A	CA376072721	CACNB2,NSUN6	c.1729C>A (p.Arg577Ser) c.1594C>A (p.Arg532Ser) c.1717C>A (p.Arg573Ser) c.1789C>A (p.Arg597Ser) c.1873C>A (p.Arg625Ser) c.1711C>A (p.Arg571Ser) c.1498C>A (p.Arg500Ser) c.1675C>A (p.Arg559Ser) c.1014C>A (n.1014C>A) c.1615C>A (p.Arg539Ser) c.1147C>A (n.1147C>A) c.1430C>A (n.1430C>A) c.1112C>A (n.1112C>A) c.1693C>A (p.Arg565Ser) c.973C>A (n.973C>A) c.1801C>A (p.Arg601Ser) c.1123C>A (p.Arg375Ser) c.1708C>A (p.Arg570Ser) c.1577C>A (n.1577C>A) c.385C>A (p.Arg129Ser) c.958C>A (p.Arg320Ser) c.1636C>A (p.Arg546Ser) c.1759C>A (p.Arg587Ser) c.1033C>A (p.Arg345Ser) c.1639C>A (p.Arg547Ser) n.2423+2455G>T n.1998C>A	gnomAD v4
10	g.18539614C=	CA1894174056	CACNB2,NSUN6	c.1729C= (p.Arg577=) c.1594C= (p.Arg532=) c.1717C= (p.Arg573=) c.1789C= (p.Arg597=) c.1873C= (p.Arg625=) c.1711C= (p.Arg571=) c.1498C= (p.Arg500=) c.1675C= (p.Arg559=) c.1014C= (n.1014C=) c.1615C= (p.Arg539=) c.1147C= (n.1147C=) c.1430C= (n.1430C=) c.1112C= (n.1112C=) c.1693C= (p.Arg565=) c.973C= (n.973C=) c.1801C= (p.Arg601=) c.1123C= (p.Arg375=) c.1708C= (p.Arg570=) c.1577C= (n.1577C=) c.385C= (p.Arg129=) c.958C= (p.Arg320=) c.1636C= (p.Arg546=) c.1759C= (p.Arg587=) c.1033C= (p.Arg345=) c.1639C= (p.Arg547=) n.2423+2455G= n.1998C=
10	g.18539614C>G	CA376072718	CACNB2,NSUN6	c.1729C>G (p.Arg577Gly) c.1594C>G (p.Arg532Gly) c.1717C>G (p.Arg573Gly) c.1789C>G (p.Arg597Gly) c.1873C>G (p.Arg625Gly) c.1711C>G (p.Arg571Gly) c.1498C>G (p.Arg500Gly) c.1675C>G (p.Arg559Gly) c.1014C>G (n.1014C>G) c.1615C>G (p.Arg539Gly) c.1147C>G (n.1147C>G) c.1430C>G (n.1430C>G) c.1112C>G (n.1112C>G) c.1693C>G (p.Arg565Gly) c.973C>G (n.973C>G) c.1801C>G (p.Arg601Gly) c.1123C>G (p.Arg375Gly) c.1708C>G (p.Arg570Gly) c.1577C>G (n.1577C>G) c.385C>G (p.Arg129Gly) c.958C>G (p.Arg320Gly) c.1636C>G (p.Arg546Gly) c.1759C>G (p.Arg587Gly) c.1033C>G (p.Arg345Gly) c.1639C>G (p.Arg547Gly) n.2423+2455G>C n.1998C>G
10	g.18539614C>T	CA16609749	CACNB2,NSUN6	c.1729C>T (p.Arg577Cys) c.1594C>T (p.Arg532Cys) c.1717C>T (p.Arg573Cys) c.1789C>T (p.Arg597Cys) c.1873C>T (p.Arg625Cys) c.1711C>T (p.Arg571Cys) c.1498C>T (p.Arg500Cys) c.1675C>T (p.Arg559Cys) c.1014C>T (n.1014C>T) c.1615C>T (p.Arg539Cys) c.1147C>T (n.1147C>T) c.1430C>T (n.1430C>T) c.1112C>T (n.1112C>T) c.1693C>T (p.Arg565Cys) c.973C>T (n.973C>T) c.1801C>T (p.Arg601Cys) c.1123C>T (p.Arg375Cys) c.1708C>T (p.Arg570Cys) c.1577C>T (n.1577C>T) c.385C>T (p.Arg129Cys) c.958C>T (p.Arg320Cys) c.1636C>T (p.Arg546Cys) c.1759C>T (p.Arg587Cys) c.1033C>T (p.Arg345Cys) c.1639C>T (p.Arg547Cys) n.2423+2455G>A n.1998C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539616_18539621del	CA2608435708	CACNB2,NSUN6	c.1731_1736del (p.Ser578_Arg579del) c.1596_1601del (p.Ser533_Arg534del) c.1719_1724del (p.Ser574_Arg575del) c.1791_1796del (p.Ser598_Arg599del) c.1875_1880del (p.Ser626_Arg627del) c.1713_1718del (p.Ser572_Arg573del) c.1500_1505del (p.Ser501_Arg502del) c.1677_1682del (p.Ser560_Arg561del) c.1016_1021del (n.1016_1021del) c.1617_1622del (p.Ser540_Arg541del) c.1149_1154del (n.1149_1154del) c.1432_1437del (n.1432_1437del) c.1114_1119del (n.1114_1119del) c.1695_1700del (p.Ser566_Arg567del) c.975_980del (n.975_980del) c.1803_1808del (p.Ser602_Arg603del) c.1125_1130del (p.Ser376_Arg377del) c.1710_1715del (p.Ser571_Arg572del) c.1579_1584del (n.1579_1584del) c.387_392del (p.Ser130_Arg131del) c.960_965del (p.Ser321_Arg322del) c.1638_1643del (p.Ser547_Arg548del) c.1761_1766del (p.Ser588_Arg589del) c.1035_1040del (p.Ser346_Arg347del) c.1641_1646del (p.Ser548_Arg549del) n.2423+2450_2423+2455del n.2000_2005del	gnomAD v4
10	g.18539615G>A	CA5430190	CACNB2,NSUN6	c.1730G>A (p.Arg577His) c.1595G>A (p.Arg532His) c.1718G>A (p.Arg573His) c.1790G>A (p.Arg597His) c.1874G>A (p.Arg625His) c.1712G>A (p.Arg571His) c.1499G>A (p.Arg500His) c.1676G>A (p.Arg559His) c.1015G>A (n.1015G>A) c.1616G>A (p.Arg539His) c.1148G>A (n.1148G>A) c.1431G>A (n.1431G>A) c.1113G>A (n.1113G>A) c.1694G>A (p.Arg565His) c.974G>A (n.974G>A) c.1802G>A (p.Arg601His) c.1124G>A (p.Arg375His) c.1709G>A (p.Arg570His) c.1578G>A (n.1578G>A) c.386G>A (p.Arg129His) c.959G>A (p.Arg320His) c.1637G>A (p.Arg546His) c.1760G>A (p.Arg587His) c.1034G>A (p.Arg345His) c.1640G>A (p.Arg547His) n.2423+2454C>T n.1999G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539615G>C	CA5430189	CACNB2,NSUN6	c.1730G>C (p.Arg577Pro) c.1595G>C (p.Arg532Pro) c.1718G>C (p.Arg573Pro) c.1790G>C (p.Arg597Pro) c.1874G>C (p.Arg625Pro) c.1712G>C (p.Arg571Pro) c.1499G>C (p.Arg500Pro) c.1676G>C (p.Arg559Pro) c.1015G>C (n.1015G>C) c.1616G>C (p.Arg539Pro) c.1148G>C (n.1148G>C) c.1431G>C (n.1431G>C) c.1113G>C (n.1113G>C) c.1694G>C (p.Arg565Pro) c.974G>C (n.974G>C) c.1802G>C (p.Arg601Pro) c.1124G>C (p.Arg375Pro) c.1709G>C (p.Arg570Pro) c.1578G>C (n.1578G>C) c.386G>C (p.Arg129Pro) c.959G>C (p.Arg320Pro) c.1637G>C (p.Arg546Pro) c.1760G>C (p.Arg587Pro) c.1034G>C (p.Arg345Pro) c.1640G>C (p.Arg547Pro) n.2423+2454C>G n.1999G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539615G=	CA1894174068	CACNB2,NSUN6	c.1730G= (p.Arg577=) c.1595G= (p.Arg532=) c.1718G= (p.Arg573=) c.1790G= (p.Arg597=) c.1874G= (p.Arg625=) c.1712G= (p.Arg571=) c.1499G= (p.Arg500=) c.1676G= (p.Arg559=) c.1015G= (n.1015G=) c.1616G= (p.Arg539=) c.1148G= (n.1148G=) c.1431G= (n.1431G=) c.1113G= (n.1113G=) c.1694G= (p.Arg565=) c.974G= (n.974G=) c.1802G= (p.Arg601=) c.1124G= (p.Arg375=) c.1709G= (p.Arg570=) c.1578G= (n.1578G=) c.386G= (p.Arg129=) c.959G= (p.Arg320=) c.1637G= (p.Arg546=) c.1760G= (p.Arg587=) c.1034G= (p.Arg345=) c.1640G= (p.Arg547=) n.2423+2454C= n.1999G=
10	g.18539615G>T	CA376072724	CACNB2,NSUN6	c.1730G>T (p.Arg577Leu) c.1595G>T (p.Arg532Leu) c.1718G>T (p.Arg573Leu) c.1790G>T (p.Arg597Leu) c.1874G>T (p.Arg625Leu) c.1712G>T (p.Arg571Leu) c.1499G>T (p.Arg500Leu) c.1676G>T (p.Arg559Leu) c.1015G>T (n.1015G>T) c.1616G>T (p.Arg539Leu) c.1148G>T (n.1148G>T) c.1431G>T (n.1431G>T) c.1113G>T (n.1113G>T) c.1694G>T (p.Arg565Leu) c.974G>T (n.974G>T) c.1802G>T (p.Arg601Leu) c.1124G>T (p.Arg375Leu) c.1709G>T (p.Arg570Leu) c.1578G>T (n.1578G>T) c.386G>T (p.Arg129Leu) c.959G>T (p.Arg320Leu) c.1637G>T (p.Arg546Leu) c.1760G>T (p.Arg587Leu) c.1034G>T (p.Arg345Leu) c.1640G>T (p.Arg547Leu) n.2423+2454C>A n.1999G>T	gnomAD v4
10	g.18539615dup	CA2608435711	CACNB2,NSUN6	c.1730dup (p.Ser578GlnfsTer4) c.1595dup (p.Ser533GlnfsTer4) c.1718dup (p.Ser574GlnfsTer4) c.1790dup (p.Ser598GlnfsTer4) c.1874dup (p.Ser626GlnfsTer4) c.1712dup (p.Ser572GlnfsTer4) c.1499dup (p.Ser501GlnfsTer4) c.1676dup (p.Ser560GlnfsTer4) c.1015dup (n.1015dup) c.1616dup (p.Ser540GlnfsTer4) c.1148dup (n.1148dup) c.1431dup (n.1431dup) c.1113dup (n.1113dup) c.1694dup (p.Ser566GlnfsTer4) c.974dup (n.974dup) c.1802dup (p.Ser602GlnfsTer4) c.1124dup (p.Ser376GlnfsTer4) c.1709dup (p.Ser571GlnfsTer4) c.1578dup (n.1578dup) c.386dup (p.Ser130GlnfsTer4) c.959dup (p.Ser321GlnfsTer4) c.1637dup (p.Ser547GlnfsTer4) c.1760dup (p.Ser588GlnfsTer4) c.1034dup (p.Ser346GlnfsTer4) c.1640dup (p.Ser548GlnfsTer4) n.2423+2454dup n.1999dup	gnomAD v4
10	g.18539616C>A	CA468649690	CACNB2,NSUN6	c.1731C>A (p.Arg577=) c.1596C>A (p.Arg532=) c.1719C>A (p.Arg573=) c.1791C>A (p.Arg597=) c.1875C>A (p.Arg625=) c.1713C>A (p.Arg571=) c.1500C>A (p.Arg500=) c.1677C>A (p.Arg559=) c.1016C>A (n.1016C>A) c.1617C>A (p.Arg539=) c.1149C>A (n.1149C>A) c.1432C>A (n.1432C>A) c.1114C>A (n.1114C>A) c.1695C>A (p.Arg565=) c.975C>A (n.975C>A) c.1803C>A (p.Arg601=) c.1125C>A (p.Arg375=) c.1710C>A (p.Arg570=) c.1579C>A (n.1579C>A) c.387C>A (p.Arg129=) c.960C>A (p.Arg320=) c.1638C>A (p.Arg546=) c.1761C>A (p.Arg587=) c.1035C>A (p.Arg345=) c.1641C>A (p.Arg547=) n.2423+2453G>T n.2000C>A	gnomAD v4
10	g.18539616C>G	CA468649686	CACNB2,NSUN6	c.1731C>G (p.Arg577=) c.1596C>G (p.Arg532=) c.1719C>G (p.Arg573=) c.1791C>G (p.Arg597=) c.1875C>G (p.Arg625=) c.1713C>G (p.Arg571=) c.1500C>G (p.Arg500=) c.1677C>G (p.Arg559=) c.1016C>G (n.1016C>G) c.1617C>G (p.Arg539=) c.1149C>G (n.1149C>G) c.1432C>G (n.1432C>G) c.1114C>G (n.1114C>G) c.1695C>G (p.Arg565=) c.975C>G (n.975C>G) c.1803C>G (p.Arg601=) c.1125C>G (p.Arg375=) c.1710C>G (p.Arg570=) c.1579C>G (n.1579C>G) c.387C>G (p.Arg129=) c.960C>G (p.Arg320=) c.1638C>G (p.Arg546=) c.1761C>G (p.Arg587=) c.1035C>G (p.Arg345=) c.1641C>G (p.Arg547=) n.2423+2453G>C n.2000C>G	ClinVar dbSNP
10	g.18539616C>T	CA468649687	CACNB2,NSUN6	c.1731C>T (p.Arg577=) c.1596C>T (p.Arg532=) c.1719C>T (p.Arg573=) c.1791C>T (p.Arg597=) c.1875C>T (p.Arg625=) c.1713C>T (p.Arg571=) c.1500C>T (p.Arg500=) c.1677C>T (p.Arg559=) c.1016C>T (n.1016C>T) c.1617C>T (p.Arg539=) c.1149C>T (n.1149C>T) c.1432C>T (n.1432C>T) c.1114C>T (n.1114C>T) c.1695C>T (p.Arg565=) c.975C>T (n.975C>T) c.1803C>T (p.Arg601=) c.1125C>T (p.Arg375=) c.1710C>T (p.Arg570=) c.1579C>T (n.1579C>T) c.387C>T (p.Arg129=) c.960C>T (p.Arg320=) c.1638C>T (p.Arg546=) c.1761C>T (p.Arg587=) c.1035C>T (p.Arg345=) c.1641C>T (p.Arg547=) n.2423+2453G>A n.2000C>T	gnomAD v4
10	g.18539617A>C	CA376072726	CACNB2,NSUN6	c.1732A>C (p.Ser578Arg) c.1597A>C (p.Ser533Arg) c.1720A>C (p.Ser574Arg) c.1792A>C (p.Ser598Arg) c.1876A>C (p.Ser626Arg) c.1714A>C (p.Ser572Arg) c.1501A>C (p.Ser501Arg) c.1678A>C (p.Ser560Arg) c.1017A>C (n.1017A>C) c.1618A>C (p.Ser540Arg) c.1150A>C (n.1150A>C) c.1433A>C (n.1433A>C) c.1115A>C (n.1115A>C) c.1696A>C (p.Ser566Arg) c.976A>C (n.976A>C) c.1804A>C (p.Ser602Arg) c.1126A>C (p.Ser376Arg) c.1711A>C (p.Ser571Arg) c.1580A>C (n.1580A>C) c.388A>C (p.Ser130Arg) c.961A>C (p.Ser321Arg) c.1639A>C (p.Ser547Arg) c.1762A>C (p.Ser588Arg) c.1036A>C (p.Ser346Arg) c.1642A>C (p.Ser548Arg) n.2423+2452T>G n.2001A>C
10	g.18539617A>G	CA376072728	CACNB2,NSUN6	c.1732A>G (p.Ser578Gly) c.1597A>G (p.Ser533Gly) c.1720A>G (p.Ser574Gly) c.1792A>G (p.Ser598Gly) c.1876A>G (p.Ser626Gly) c.1714A>G (p.Ser572Gly) c.1501A>G (p.Ser501Gly) c.1678A>G (p.Ser560Gly) c.1017A>G (n.1017A>G) c.1618A>G (p.Ser540Gly) c.1150A>G (n.1150A>G) c.1433A>G (n.1433A>G) c.1115A>G (n.1115A>G) c.1696A>G (p.Ser566Gly) c.976A>G (n.976A>G) c.1804A>G (p.Ser602Gly) c.1126A>G (p.Ser376Gly) c.1711A>G (p.Ser571Gly) c.1580A>G (n.1580A>G) c.388A>G (p.Ser130Gly) c.961A>G (p.Ser321Gly) c.1639A>G (p.Ser547Gly) c.1762A>G (p.Ser588Gly) c.1036A>G (p.Ser346Gly) c.1642A>G (p.Ser548Gly) n.2423+2452T>C n.2001A>G
10	g.18539617A>T	CA376072730	CACNB2,NSUN6	c.1732A>T (p.Ser578Cys) c.1597A>T (p.Ser533Cys) c.1720A>T (p.Ser574Cys) c.1792A>T (p.Ser598Cys) c.1876A>T (p.Ser626Cys) c.1714A>T (p.Ser572Cys) c.1501A>T (p.Ser501Cys) c.1678A>T (p.Ser560Cys) c.1017A>T (n.1017A>T) c.1618A>T (p.Ser540Cys) c.1150A>T (n.1150A>T) c.1433A>T (n.1433A>T) c.1115A>T (n.1115A>T) c.1696A>T (p.Ser566Cys) c.976A>T (n.976A>T) c.1804A>T (p.Ser602Cys) c.1126A>T (p.Ser376Cys) c.1711A>T (p.Ser571Cys) c.1580A>T (n.1580A>T) c.388A>T (p.Ser130Cys) c.961A>T (p.Ser321Cys) c.1639A>T (p.Ser547Cys) c.1762A>T (p.Ser588Cys) c.1036A>T (p.Ser346Cys) c.1642A>T (p.Ser548Cys) n.2423+2452T>A n.2001A>T
10	g.18539618G>A	CA5430191	CACNB2,NSUN6	c.1733G>A (p.Ser578Asn) c.1598G>A (p.Ser533Asn) c.1721G>A (p.Ser574Asn) c.1793G>A (p.Ser598Asn) c.1877G>A (p.Ser626Asn) c.1715G>A (p.Ser572Asn) c.1502G>A (p.Ser501Asn) c.1679G>A (p.Ser560Asn) c.1018G>A (n.1018G>A) c.1619G>A (p.Ser540Asn) c.1151G>A (n.1151G>A) c.1434G>A (n.1434G>A) c.1116G>A (n.1116G>A) c.1697G>A (p.Ser566Asn) c.977G>A (n.977G>A) c.1805G>A (p.Ser602Asn) c.1127G>A (p.Ser376Asn) c.1712G>A (p.Ser571Asn) c.1581G>A (n.1581G>A) c.389G>A (p.Ser130Asn) c.962G>A (p.Ser321Asn) c.1640G>A (p.Ser547Asn) c.1763G>A (p.Ser588Asn) c.1037G>A (p.Ser346Asn) c.1643G>A (p.Ser548Asn) n.2423+2451C>T n.2002G>A	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539618G>C	CA376072732	CACNB2,NSUN6	c.1733G>C (p.Ser578Thr) c.1598G>C (p.Ser533Thr) c.1721G>C (p.Ser574Thr) c.1793G>C (p.Ser598Thr) c.1877G>C (p.Ser626Thr) c.1715G>C (p.Ser572Thr) c.1502G>C (p.Ser501Thr) c.1679G>C (p.Ser560Thr) c.1018G>C (n.1018G>C) c.1619G>C (p.Ser540Thr) c.1151G>C (n.1151G>C) c.1434G>C (n.1434G>C) c.1116G>C (n.1116G>C) c.1697G>C (p.Ser566Thr) c.977G>C (n.977G>C) c.1805G>C (p.Ser602Thr) c.1127G>C (p.Ser376Thr) c.1712G>C (p.Ser571Thr) c.1581G>C (n.1581G>C) c.389G>C (p.Ser130Thr) c.962G>C (p.Ser321Thr) c.1640G>C (p.Ser547Thr) c.1763G>C (p.Ser588Thr) c.1037G>C (p.Ser346Thr) c.1643G>C (p.Ser548Thr) n.2423+2451C>G n.2002G>C
10	g.18539618G=	CA1894174073	CACNB2,NSUN6	c.1733G= (p.Ser578=) c.1598G= (p.Ser533=) c.1721G= (p.Ser574=) c.1793G= (p.Ser598=) c.1877G= (p.Ser626=) c.1715G= (p.Ser572=) c.1502G= (p.Ser501=) c.1679G= (p.Ser560=) c.1018G= (n.1018G=) c.1619G= (p.Ser540=) c.1151G= (n.1151G=) c.1434G= (n.1434G=) c.1116G= (n.1116G=) c.1697G= (p.Ser566=) c.977G= (n.977G=) c.1805G= (p.Ser602=) c.1127G= (p.Ser376=) c.1712G= (p.Ser571=) c.1581G= (n.1581G=) c.389G= (p.Ser130=) c.962G= (p.Ser321=) c.1640G= (p.Ser547=) c.1763G= (p.Ser588=) c.1037G= (p.Ser346=) c.1643G= (p.Ser548=) n.2423+2451C= n.2002G=
10	g.18539618G>T	CA376072734	CACNB2,NSUN6	c.1733G>T (p.Ser578Ile) c.1598G>T (p.Ser533Ile) c.1721G>T (p.Ser574Ile) c.1793G>T (p.Ser598Ile) c.1877G>T (p.Ser626Ile) c.1715G>T (p.Ser572Ile) c.1502G>T (p.Ser501Ile) c.1679G>T (p.Ser560Ile) c.1018G>T (n.1018G>T) c.1619G>T (p.Ser540Ile) c.1151G>T (n.1151G>T) c.1434G>T (n.1434G>T) c.1116G>T (n.1116G>T) c.1697G>T (p.Ser566Ile) c.977G>T (n.977G>T) c.1805G>T (p.Ser602Ile) c.1127G>T (p.Ser376Ile) c.1712G>T (p.Ser571Ile) c.1581G>T (n.1581G>T) c.389G>T (p.Ser130Ile) c.962G>T (p.Ser321Ile) c.1640G>T (p.Ser547Ile) c.1763G>T (p.Ser588Ile) c.1037G>T (p.Ser346Ile) c.1643G>T (p.Ser548Ile) n.2423+2451C>A n.2002G>T
10	g.18539619C>A	CA376072736	CACNB2,NSUN6	c.1734C>A (p.Ser578Arg) c.1599C>A (p.Ser533Arg) c.1722C>A (p.Ser574Arg) c.1794C>A (p.Ser598Arg) c.1878C>A (p.Ser626Arg) c.1716C>A (p.Ser572Arg) c.1503C>A (p.Ser501Arg) c.1680C>A (p.Ser560Arg) c.1019C>A (n.1019C>A) c.1620C>A (p.Ser540Arg) c.1152C>A (n.1152C>A) c.1435C>A (n.1435C>A) c.1117C>A (n.1117C>A) c.1698C>A (p.Ser566Arg) c.978C>A (n.978C>A) c.1806C>A (p.Ser602Arg) c.1128C>A (p.Ser376Arg) c.1713C>A (p.Ser571Arg) c.1582C>A (n.1582C>A) c.390C>A (p.Ser130Arg) c.963C>A (p.Ser321Arg) c.1641C>A (p.Ser547Arg) c.1764C>A (p.Ser588Arg) c.1038C>A (p.Ser346Arg) c.1644C>A (p.Ser548Arg) n.2423+2450G>T n.2003C>A
10	g.18539619C>G	CA376072737	CACNB2,NSUN6	c.1734C>G (p.Ser578Arg) c.1599C>G (p.Ser533Arg) c.1722C>G (p.Ser574Arg) c.1794C>G (p.Ser598Arg) c.1878C>G (p.Ser626Arg) c.1716C>G (p.Ser572Arg) c.1503C>G (p.Ser501Arg) c.1680C>G (p.Ser560Arg) c.1019C>G (n.1019C>G) c.1620C>G (p.Ser540Arg) c.1152C>G (n.1152C>G) c.1435C>G (n.1435C>G) c.1117C>G (n.1117C>G) c.1698C>G (p.Ser566Arg) c.978C>G (n.978C>G) c.1806C>G (p.Ser602Arg) c.1128C>G (p.Ser376Arg) c.1713C>G (p.Ser571Arg) c.1582C>G (n.1582C>G) c.390C>G (p.Ser130Arg) c.963C>G (p.Ser321Arg) c.1641C>G (p.Ser547Arg) c.1764C>G (p.Ser588Arg) c.1038C>G (p.Ser346Arg) c.1644C>G (p.Ser548Arg) n.2423+2450G>C n.2003C>G
10	g.18539619C>T	CA468649694	CACNB2,NSUN6	c.1734C>T (p.Ser578=) c.1599C>T (p.Ser533=) c.1722C>T (p.Ser574=) c.1794C>T (p.Ser598=) c.1878C>T (p.Ser626=) c.1716C>T (p.Ser572=) c.1503C>T (p.Ser501=) c.1680C>T (p.Ser560=) c.1019C>T (n.1019C>T) c.1620C>T (p.Ser540=) c.1152C>T (n.1152C>T) c.1435C>T (n.1435C>T) c.1117C>T (n.1117C>T) c.1698C>T (p.Ser566=) c.978C>T (n.978C>T) c.1806C>T (p.Ser602=) c.1128C>T (p.Ser376=) c.1713C>T (p.Ser571=) c.1582C>T (n.1582C>T) c.390C>T (p.Ser130=) c.963C>T (p.Ser321=) c.1641C>T (p.Ser547=) c.1764C>T (p.Ser588=) c.1038C>T (p.Ser346=) c.1644C>T (p.Ser548=) n.2423+2450G>A n.2003C>T
10	g.18539620del	CA2501243636	CACNB2,NSUN6	c.1735del (p.Arg579ValfsTer15) c.1600del (p.Arg534ValfsTer15) c.1723del (p.Arg575ValfsTer15) c.1795del (p.Arg599ValfsTer15) c.1879del (p.Arg627ValfsTer15) c.1717del (p.Arg573ValfsTer15) c.1504del (p.Arg502ValfsTer15) c.1681del (p.Arg561ValfsTer15) c.1020del (n.1020del) c.1621del (p.Arg541ValfsTer15) c.1153del (n.1153del) c.1436del (n.1436del) c.1118del (n.1118del) c.1699del (p.Arg567ValfsTer15) c.979del (n.979del) c.1807del (p.Arg603ValfsTer15) c.1129del (p.Arg377ValfsTer15) c.1714del (p.Arg572ValfsTer15) c.1583del (n.1583del) c.391del (p.Arg131ValfsTer15) c.964del (p.Arg322ValfsTer15) c.1642del (p.Arg548ValfsTer15) c.1765del (p.Arg589ValfsTer15) c.1039del (p.Arg347ValfsTer15) c.1645del (p.Arg549ValfsTer15) n.2423+2450del n.2004del
10	g.18539620C>A	CA203167427	CACNB2,NSUN6	c.1735C>A (p.Arg579Ser) c.1600C>A (p.Arg534Ser) c.1723C>A (p.Arg575Ser) c.1795C>A (p.Arg599Ser) c.1879C>A (p.Arg627Ser) c.1717C>A (p.Arg573Ser) c.1504C>A (p.Arg502Ser) c.1681C>A (p.Arg561Ser) c.1020C>A (n.1020C>A) c.1621C>A (p.Arg541Ser) c.1153C>A (n.1153C>A) c.1436C>A (n.1436C>A) c.1118C>A (n.1118C>A) c.1699C>A (p.Arg567Ser) c.979C>A (n.979C>A) c.1807C>A (p.Arg603Ser) c.1129C>A (p.Arg377Ser) c.1714C>A (p.Arg572Ser) c.1583C>A (n.1583C>A) c.391C>A (p.Arg131Ser) c.964C>A (p.Arg322Ser) c.1642C>A (p.Arg548Ser) c.1765C>A (p.Arg589Ser) c.1039C>A (p.Arg347Ser) c.1645C>A (p.Arg549Ser) n.2423+2449G>T n.2004C>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539620C=	CA1894174083	CACNB2,NSUN6	c.1735C= (p.Arg579=) c.1600C= (p.Arg534=) c.1723C= (p.Arg575=) c.1795C= (p.Arg599=) c.1879C= (p.Arg627=) c.1717C= (p.Arg573=) c.1504C= (p.Arg502=) c.1681C= (p.Arg561=) c.1020C= (n.1020C=) c.1621C= (p.Arg541=) c.1153C= (n.1153C=) c.1436C= (n.1436C=) c.1118C= (n.1118C=) c.1699C= (p.Arg567=) c.979C= (n.979C=) c.1807C= (p.Arg603=) c.1129C= (p.Arg377=) c.1714C= (p.Arg572=) c.1583C= (n.1583C=) c.391C= (p.Arg131=) c.964C= (p.Arg322=) c.1642C= (p.Arg548=) c.1765C= (p.Arg589=) c.1039C= (p.Arg347=) c.1645C= (p.Arg549=) n.2423+2449G= n.2004C=
10	g.18539620C>G	CA376072738	CACNB2,NSUN6	c.1735C>G (p.Arg579Gly) c.1600C>G (p.Arg534Gly) c.1723C>G (p.Arg575Gly) c.1795C>G (p.Arg599Gly) c.1879C>G (p.Arg627Gly) c.1717C>G (p.Arg573Gly) c.1504C>G (p.Arg502Gly) c.1681C>G (p.Arg561Gly) c.1020C>G (n.1020C>G) c.1621C>G (p.Arg541Gly) c.1153C>G (n.1153C>G) c.1436C>G (n.1436C>G) c.1118C>G (n.1118C>G) c.1699C>G (p.Arg567Gly) c.979C>G (n.979C>G) c.1807C>G (p.Arg603Gly) c.1129C>G (p.Arg377Gly) c.1714C>G (p.Arg572Gly) c.1583C>G (n.1583C>G) c.391C>G (p.Arg131Gly) c.964C>G (p.Arg322Gly) c.1642C>G (p.Arg548Gly) c.1765C>G (p.Arg589Gly) c.1039C>G (p.Arg347Gly) c.1645C>G (p.Arg549Gly) n.2423+2449G>C n.2004C>G	dbSNP
10	g.18539620C>T	CA5430192	CACNB2,NSUN6	c.1735C>T (p.Arg579Cys) c.1600C>T (p.Arg534Cys) c.1723C>T (p.Arg575Cys) c.1795C>T (p.Arg599Cys) c.1879C>T (p.Arg627Cys) c.1717C>T (p.Arg573Cys) c.1504C>T (p.Arg502Cys) c.1681C>T (p.Arg561Cys) c.1020C>T (n.1020C>T) c.1621C>T (p.Arg541Cys) c.1153C>T (n.1153C>T) c.1436C>T (n.1436C>T) c.1118C>T (n.1118C>T) c.1699C>T (p.Arg567Cys) c.979C>T (n.979C>T) c.1807C>T (p.Arg603Cys) c.1129C>T (p.Arg377Cys) c.1714C>T (p.Arg572Cys) c.1583C>T (n.1583C>T) c.391C>T (p.Arg131Cys) c.964C>T (p.Arg322Cys) c.1642C>T (p.Arg548Cys) c.1765C>T (p.Arg589Cys) c.1039C>T (p.Arg347Cys) c.1645C>T (p.Arg549Cys) n.2423+2449G>A n.2004C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539621G>A	CA5430193	CACNB2,NSUN6	c.1736G>A (p.Arg579His) c.1601G>A (p.Arg534His) c.1724G>A (p.Arg575His) c.1796G>A (p.Arg599His) c.1880G>A (p.Arg627His) c.1718G>A (p.Arg573His) c.1505G>A (p.Arg502His) c.1682G>A (p.Arg561His) c.1021G>A (n.1021G>A) c.1622G>A (p.Arg541His) c.1154G>A (n.1154G>A) c.1437G>A (n.1437G>A) c.1119G>A (n.1119G>A) c.1700G>A (p.Arg567His) c.980G>A (n.980G>A) c.1808G>A (p.Arg603His) c.1130G>A (p.Arg377His) c.1715G>A (p.Arg572His) c.1584G>A (n.1584G>A) c.392G>A (p.Arg131His) c.965G>A (p.Arg322His) c.1643G>A (p.Arg548His) c.1766G>A (p.Arg589His) c.1040G>A (p.Arg347His) c.1646G>A (p.Arg549His) n.2423+2448C>T n.2005G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539621G>C	CA376072740	CACNB2,NSUN6	c.1736G>C (p.Arg579Pro) c.1601G>C (p.Arg534Pro) c.1724G>C (p.Arg575Pro) c.1796G>C (p.Arg599Pro) c.1880G>C (p.Arg627Pro) c.1718G>C (p.Arg573Pro) c.1505G>C (p.Arg502Pro) c.1682G>C (p.Arg561Pro) c.1021G>C (n.1021G>C) c.1622G>C (p.Arg541Pro) c.1154G>C (n.1154G>C) c.1437G>C (n.1437G>C) c.1119G>C (n.1119G>C) c.1700G>C (p.Arg567Pro) c.980G>C (n.980G>C) c.1808G>C (p.Arg603Pro) c.1130G>C (p.Arg377Pro) c.1715G>C (p.Arg572Pro) c.1584G>C (n.1584G>C) c.392G>C (p.Arg131Pro) c.965G>C (p.Arg322Pro) c.1643G>C (p.Arg548Pro) c.1766G>C (p.Arg589Pro) c.1040G>C (p.Arg347Pro) c.1646G>C (p.Arg549Pro) n.2423+2448C>G n.2005G>C	gnomAD v4
10	g.18539621G=	CA1894174094	CACNB2,NSUN6	c.1736G= (p.Arg579=) c.1601G= (p.Arg534=) c.1724G= (p.Arg575=) c.1796G= (p.Arg599=) c.1880G= (p.Arg627=) c.1718G= (p.Arg573=) c.1505G= (p.Arg502=) c.1682G= (p.Arg561=) c.1021G= (n.1021G=) c.1622G= (p.Arg541=) c.1154G= (n.1154G=) c.1437G= (n.1437G=) c.1119G= (n.1119G=) c.1700G= (p.Arg567=) c.980G= (n.980G=) c.1808G= (p.Arg603=) c.1130G= (p.Arg377=) c.1715G= (p.Arg572=) c.1584G= (n.1584G=) c.392G= (p.Arg131=) c.965G= (p.Arg322=) c.1643G= (p.Arg548=) c.1766G= (p.Arg589=) c.1040G= (p.Arg347=) c.1646G= (p.Arg549=) n.2423+2448C= n.2005G=
10	g.18539621G>T	CA376072739	CACNB2,NSUN6	c.1736G>T (p.Arg579Leu) c.1601G>T (p.Arg534Leu) c.1724G>T (p.Arg575Leu) c.1796G>T (p.Arg599Leu) c.1880G>T (p.Arg627Leu) c.1718G>T (p.Arg573Leu) c.1505G>T (p.Arg502Leu) c.1682G>T (p.Arg561Leu) c.1021G>T (n.1021G>T) c.1622G>T (p.Arg541Leu) c.1154G>T (n.1154G>T) c.1437G>T (n.1437G>T) c.1119G>T (n.1119G>T) c.1700G>T (p.Arg567Leu) c.980G>T (n.980G>T) c.1808G>T (p.Arg603Leu) c.1130G>T (p.Arg377Leu) c.1715G>T (p.Arg572Leu) c.1584G>T (n.1584G>T) c.392G>T (p.Arg131Leu) c.965G>T (p.Arg322Leu) c.1643G>T (p.Arg548Leu) c.1766G>T (p.Arg589Leu) c.1040G>T (p.Arg347Leu) c.1646G>T (p.Arg549Leu) n.2423+2448C>A n.2005G>T
10	g.18539622T>A	CA468649703	CACNB2,NSUN6	c.1737T>A (p.Arg579=) c.1602T>A (p.Arg534=) c.1725T>A (p.Arg575=) c.1797T>A (p.Arg599=) c.1881T>A (p.Arg627=) c.1719T>A (p.Arg573=) c.1506T>A (p.Arg502=) c.1683T>A (p.Arg561=) c.1022T>A (n.1022T>A) c.1623T>A (p.Arg541=) c.1155T>A (n.1155T>A) c.1438T>A (n.1438T>A) c.1120T>A (n.1120T>A) c.1701T>A (p.Arg567=) c.981T>A (n.981T>A) c.1809T>A (p.Arg603=) c.1131T>A (p.Arg377=) c.1716T>A (p.Arg572=) c.1585T>A (n.1585T>A) c.393T>A (p.Arg131=) c.966T>A (p.Arg322=) c.1644T>A (p.Arg548=) c.1767T>A (p.Arg589=) c.1041T>A (p.Arg347=) c.1647T>A (p.Arg549=) n.2423+2447A>T n.2006T>A
10	g.18539622T>C	CA468649700	CACNB2,NSUN6	c.1737T>C (p.Arg579=) c.1602T>C (p.Arg534=) c.1725T>C (p.Arg575=) c.1797T>C (p.Arg599=) c.1881T>C (p.Arg627=) c.1719T>C (p.Arg573=) c.1506T>C (p.Arg502=) c.1683T>C (p.Arg561=) c.1022T>C (n.1022T>C) c.1623T>C (p.Arg541=) c.1155T>C (n.1155T>C) c.1438T>C (n.1438T>C) c.1120T>C (n.1120T>C) c.1701T>C (p.Arg567=) c.981T>C (n.981T>C) c.1809T>C (p.Arg603=) c.1131T>C (p.Arg377=) c.1716T>C (p.Arg572=) c.1585T>C (n.1585T>C) c.393T>C (p.Arg131=) c.966T>C (p.Arg322=) c.1644T>C (p.Arg548=) c.1767T>C (p.Arg589=) c.1041T>C (p.Arg347=) c.1647T>C (p.Arg549=) n.2423+2447A>G n.2006T>C	gnomAD v4
10	g.18539622T>G	CA468649698	CACNB2,NSUN6	c.1737T>G (p.Arg579=) c.1602T>G (p.Arg534=) c.1725T>G (p.Arg575=) c.1797T>G (p.Arg599=) c.1881T>G (p.Arg627=) c.1719T>G (p.Arg573=) c.1506T>G (p.Arg502=) c.1683T>G (p.Arg561=) c.1022T>G (n.1022T>G) c.1623T>G (p.Arg541=) c.1155T>G (n.1155T>G) c.1438T>G (n.1438T>G) c.1120T>G (n.1120T>G) c.1701T>G (p.Arg567=) c.981T>G (n.981T>G) c.1809T>G (p.Arg603=) c.1131T>G (p.Arg377=) c.1716T>G (p.Arg572=) c.1585T>G (n.1585T>G) c.393T>G (p.Arg131=) c.966T>G (p.Arg322=) c.1644T>G (p.Arg548=) c.1767T>G (p.Arg589=) c.1041T>G (p.Arg347=) c.1647T>G (p.Arg549=) n.2423+2447A>C n.2006T>G	gnomAD v4
10	g.18539622_18539627del	CA2540442130	CACNB2,NSUN6	c.1737_1742del (p.His580_Lys581del) c.1602_1607del (p.His535_Lys536del) c.1725_1730del (p.His576_Lys577del) c.1797_1802del (p.His600_Lys601del) c.1881_1886del (p.His628_Lys629del) c.1719_1724del (p.His574_Lys575del) c.1506_1511del (p.His503_Lys504del) c.1683_1688del (p.His562_Lys563del) c.1022_1027del (n.1022_1027del) c.1623_1628del (p.His542_Lys543del) c.1155_1160del (n.1155_1160del) c.1438_1443del (n.1438_1443del) c.1120_1125del (n.1120_1125del) c.1701_1706del (p.His568_Lys569del) c.981_986del (n.981_986del) c.1809_1814del (p.His604_Lys605del) c.1131_1136del (p.His378_Lys379del) c.1716_1721del (p.His573_Lys574del) c.1585_1590del (n.1585_1590del) c.393_398del (p.His132_Lys133del) c.966_971del (p.His323_Lys324del) c.1644_1649del (p.His549_Lys550del) c.1767_1772del (p.His590_Lys591del) c.1041_1046del (p.His348_Lys349del) c.1647_1652del (p.His550_Lys551del) n.2423+2442_2423+2447del n.2006_2011del
10	g.18539623C>A	CA376072741	CACNB2,NSUN6	c.1738C>A (p.His580Asn) c.1603C>A (p.His535Asn) c.1726C>A (p.His576Asn) c.1798C>A (p.His600Asn) c.1882C>A (p.His628Asn) c.1720C>A (p.His574Asn) c.1507C>A (p.His503Asn) c.1684C>A (p.His562Asn) c.1023C>A (n.1023C>A) c.1624C>A (p.His542Asn) c.1156C>A (n.1156C>A) c.1439C>A (n.1439C>A) c.1121C>A (n.1121C>A) c.1702C>A (p.His568Asn) c.982C>A (n.982C>A) c.1810C>A (p.His604Asn) c.1132C>A (p.His378Asn) c.1717C>A (p.His573Asn) c.1586C>A (n.1586C>A) c.394C>A (p.His132Asn) c.967C>A (p.His323Asn) c.1645C>A (p.His549Asn) c.1768C>A (p.His590Asn) c.1042C>A (p.His348Asn) c.1648C>A (p.His550Asn) n.2423+2446G>T n.2007C>A
10	g.18539623C>G	CA376072742	CACNB2,NSUN6	c.1738C>G (p.His580Asp) c.1603C>G (p.His535Asp) c.1726C>G (p.His576Asp) c.1798C>G (p.His600Asp) c.1882C>G (p.His628Asp) c.1720C>G (p.His574Asp) c.1507C>G (p.His503Asp) c.1684C>G (p.His562Asp) c.1023C>G (n.1023C>G) c.1624C>G (p.His542Asp) c.1156C>G (n.1156C>G) c.1439C>G (n.1439C>G) c.1121C>G (n.1121C>G) c.1702C>G (p.His568Asp) c.982C>G (n.982C>G) c.1810C>G (p.His604Asp) c.1132C>G (p.His378Asp) c.1717C>G (p.His573Asp) c.1586C>G (n.1586C>G) c.394C>G (p.His132Asp) c.967C>G (p.His323Asp) c.1645C>G (p.His549Asp) c.1768C>G (p.His590Asp) c.1042C>G (p.His348Asp) c.1648C>G (p.His550Asp) n.2423+2446G>C n.2007C>G
10	g.18539623C>T	CA376072743	CACNB2,NSUN6	c.1738C>T (p.His580Tyr) c.1603C>T (p.His535Tyr) c.1726C>T (p.His576Tyr) c.1798C>T (p.His600Tyr) c.1882C>T (p.His628Tyr) c.1720C>T (p.His574Tyr) c.1507C>T (p.His503Tyr) c.1684C>T (p.His562Tyr) c.1023C>T (n.1023C>T) c.1624C>T (p.His542Tyr) c.1156C>T (n.1156C>T) c.1439C>T (n.1439C>T) c.1121C>T (n.1121C>T) c.1702C>T (p.His568Tyr) c.982C>T (n.982C>T) c.1810C>T (p.His604Tyr) c.1132C>T (p.His378Tyr) c.1717C>T (p.His573Tyr) c.1586C>T (n.1586C>T) c.394C>T (p.His132Tyr) c.967C>T (p.His323Tyr) c.1645C>T (p.His549Tyr) c.1768C>T (p.His590Tyr) c.1042C>T (p.His348Tyr) c.1648C>T (p.His550Tyr) n.2423+2446G>A n.2007C>T
10	g.18539623_18539625delinsCAT	CA1894174096	CACNB2,NSUN6	c.1738_1740delinsCAT (p.His580=) c.1603_1605delinsCAT (p.His535=) c.1726_1728delinsCAT (p.His576=) c.1798_1800delinsCAT (p.His600=) c.1882_1884delinsCAT (p.His628=) c.1720_1722delinsCAT (p.His574=) c.1507_1509delinsCAT (p.His503=) c.1684_1686delinsCAT (p.His562=) c.1023_1025delinsCAT (n.1023_1025delinsCAT) c.1624_1626delinsCAT (p.His542=) c.1156_1158delinsCAT (n.1156_1158delinsCAT) c.1439_1441delinsCAT (n.1439_1441delinsCAT) c.1121_1123delinsCAT (n.1121_1123delinsCAT) c.1702_1704delinsCAT (p.His568=) c.982_984delinsCAT (n.982_984delinsCAT) c.1810_1812delinsCAT (p.His604=) c.1132_1134delinsCAT (p.His378=) c.1717_1719delinsCAT (p.His573=) c.1586_1588delinsCAT (n.1586_1588delinsCAT) c.394_396delinsCAT (p.His132=) c.967_969delinsCAT (p.His323=) c.1645_1647delinsCAT (p.His549=) c.1768_1770delinsCAT (p.His590=) c.1042_1044delinsCAT (p.His348=) c.1648_1650delinsCAT (p.His550=) n.2423+2444_2423+2446delinsATG n.2007_2009delinsCAT
10	g.18539624A>C	CA376072744	CACNB2,NSUN6	c.1739A>C (p.His580Pro) c.1604A>C (p.His535Pro) c.1727A>C (p.His576Pro) c.1799A>C (p.His600Pro) c.1883A>C (p.His628Pro) c.1721A>C (p.His574Pro) c.1508A>C (p.His503Pro) c.1685A>C (p.His562Pro) c.1024A>C (n.1024A>C) c.1625A>C (p.His542Pro) c.1157A>C (n.1157A>C) c.1440A>C (n.1440A>C) c.1122A>C (n.1122A>C) c.1703A>C (p.His568Pro) c.983A>C (n.983A>C) c.1811A>C (p.His604Pro) c.1133A>C (p.His378Pro) c.1718A>C (p.His573Pro) c.1587A>C (n.1587A>C) c.395A>C (p.His132Pro) c.968A>C (p.His323Pro) c.1646A>C (p.His549Pro) c.1769A>C (p.His590Pro) c.1043A>C (p.His348Pro) c.1649A>C (p.His550Pro) n.2423+2445T>G n.2008A>C	gnomAD v4
10	g.18539624A>G	CA376072745	CACNB2,NSUN6	c.1739A>G (p.His580Arg) c.1604A>G (p.His535Arg) c.1727A>G (p.His576Arg) c.1799A>G (p.His600Arg) c.1883A>G (p.His628Arg) c.1721A>G (p.His574Arg) c.1508A>G (p.His503Arg) c.1685A>G (p.His562Arg) c.1024A>G (n.1024A>G) c.1625A>G (p.His542Arg) c.1157A>G (n.1157A>G) c.1440A>G (n.1440A>G) c.1122A>G (n.1122A>G) c.1703A>G (p.His568Arg) c.983A>G (n.983A>G) c.1811A>G (p.His604Arg) c.1133A>G (p.His378Arg) c.1718A>G (p.His573Arg) c.1587A>G (n.1587A>G) c.395A>G (p.His132Arg) c.968A>G (p.His323Arg) c.1646A>G (p.His549Arg) c.1769A>G (p.His590Arg) c.1043A>G (p.His348Arg) c.1649A>G (p.His550Arg) n.2423+2445T>C n.2008A>G
10	g.18539624A>T	CA376072746	CACNB2,NSUN6	c.1739A>T (p.His580Leu) c.1604A>T (p.His535Leu) c.1727A>T (p.His576Leu) c.1799A>T (p.His600Leu) c.1883A>T (p.His628Leu) c.1721A>T (p.His574Leu) c.1508A>T (p.His503Leu) c.1685A>T (p.His562Leu) c.1024A>T (n.1024A>T) c.1625A>T (p.His542Leu) c.1157A>T (n.1157A>T) c.1440A>T (n.1440A>T) c.1122A>T (n.1122A>T) c.1703A>T (p.His568Leu) c.983A>T (n.983A>T) c.1811A>T (p.His604Leu) c.1133A>T (p.His378Leu) c.1718A>T (p.His573Leu) c.1587A>T (n.1587A>T) c.395A>T (p.His132Leu) c.968A>T (p.His323Leu) c.1646A>T (p.His549Leu) c.1769A>T (p.His590Leu) c.1043A>T (p.His348Leu) c.1649A>T (p.His550Leu) n.2423+2445T>A n.2008A>T
10	g.18539625_18539626del	CA1894174100	CACNB2,NSUN6	c.1740_1741del (p.His580GlnfsTer8) c.1605_1606del (p.His535GlnfsTer8) c.1728_1729del (p.His576GlnfsTer8) c.1800_1801del (p.His600GlnfsTer8) c.1884_1885del (p.His628GlnfsTer8) c.1722_1723del (p.His574GlnfsTer8) c.1509_1510del (p.His503GlnfsTer8) c.1686_1687del (p.His562GlnfsTer8) c.1025_1026del (n.1025_1026del) c.1626_1627del (p.His542GlnfsTer8) c.1158_1159del (n.1158_1159del) c.1441_1442del (n.1441_1442del) c.1123_1124del (n.1123_1124del) c.1704_1705del (p.His568GlnfsTer8) c.984_985del (n.984_985del) c.1812_1813del (p.His604GlnfsTer8) c.1134_1135del (p.His378GlnfsTer8) c.1719_1720del (p.His573GlnfsTer8) c.1588_1589del (n.1588_1589del) c.396_397del (p.His132GlnfsTer8) c.969_970del (p.His323GlnfsTer8) c.1647_1648del (p.His549GlnfsTer8) c.1770_1771del (p.His590GlnfsTer8) c.1044_1045del (p.His348GlnfsTer8) c.1650_1651del (p.His550GlnfsTer8) n.2423+2444_2423+2445del n.2009_2010del	dbSNP
10	g.18539625T>A	CA376072748	CACNB2,NSUN6	c.1740T>A (p.His580Gln) c.1605T>A (p.His535Gln) c.1728T>A (p.His576Gln) c.1800T>A (p.His600Gln) c.1884T>A (p.His628Gln) c.1722T>A (p.His574Gln) c.1509T>A (p.His503Gln) c.1686T>A (p.His562Gln) c.1025T>A (n.1025T>A) c.1626T>A (p.His542Gln) c.1158T>A (n.1158T>A) c.1441T>A (n.1441T>A) c.1123T>A (n.1123T>A) c.1704T>A (p.His568Gln) c.984T>A (n.984T>A) c.1812T>A (p.His604Gln) c.1134T>A (p.His378Gln) c.1719T>A (p.His573Gln) c.1588T>A (n.1588T>A) c.396T>A (p.His132Gln) c.969T>A (p.His323Gln) c.1647T>A (p.His549Gln) c.1770T>A (p.His590Gln) c.1044T>A (p.His348Gln) c.1650T>A (p.His550Gln) n.2423+2444A>T n.2009T>A
10	g.18539625T>C	CA468649707	CACNB2,NSUN6	c.1740T>C (p.His580=) c.1605T>C (p.His535=) c.1728T>C (p.His576=) c.1800T>C (p.His600=) c.1884T>C (p.His628=) c.1722T>C (p.His574=) c.1509T>C (p.His503=) c.1686T>C (p.His562=) c.1025T>C (n.1025T>C) c.1626T>C (p.His542=) c.1158T>C (n.1158T>C) c.1441T>C (n.1441T>C) c.1123T>C (n.1123T>C) c.1704T>C (p.His568=) c.984T>C (n.984T>C) c.1812T>C (p.His604=) c.1134T>C (p.His378=) c.1719T>C (p.His573=) c.1588T>C (n.1588T>C) c.396T>C (p.His132=) c.969T>C (p.His323=) c.1647T>C (p.His549=) c.1770T>C (p.His590=) c.1044T>C (p.His348=) c.1650T>C (p.His550=) n.2423+2444A>G n.2009T>C	dbSNP gnomAD v4
10	g.18539625T>G	CA376072747	CACNB2,NSUN6	c.1740T>G (p.His580Gln) c.1605T>G (p.His535Gln) c.1728T>G (p.His576Gln) c.1800T>G (p.His600Gln) c.1884T>G (p.His628Gln) c.1722T>G (p.His574Gln) c.1509T>G (p.His503Gln) c.1686T>G (p.His562Gln) c.1025T>G (n.1025T>G) c.1626T>G (p.His542Gln) c.1158T>G (n.1158T>G) c.1441T>G (n.1441T>G) c.1123T>G (n.1123T>G) c.1704T>G (p.His568Gln) c.984T>G (n.984T>G) c.1812T>G (p.His604Gln) c.1134T>G (p.His378Gln) c.1719T>G (p.His573Gln) c.1588T>G (n.1588T>G) c.396T>G (p.His132Gln) c.969T>G (p.His323Gln) c.1647T>G (p.His549Gln) c.1770T>G (p.His590Gln) c.1044T>G (p.His348Gln) c.1650T>G (p.His550Gln) n.2423+2444A>C n.2009T>G
10	g.18539625T=	CA1894174102	CACNB2,NSUN6	c.1740T= (p.His580=) c.1605T= (p.His535=) c.1728T= (p.His576=) c.1800T= (p.His600=) c.1884T= (p.His628=) c.1722T= (p.His574=) c.1509T= (p.His503=) c.1686T= (p.His562=) c.1025T= (n.1025T=) c.1626T= (p.His542=) c.1158T= (n.1158T=) c.1441T= (n.1441T=) c.1123T= (n.1123T=) c.1704T= (p.His568=) c.984T= (n.984T=) c.1812T= (p.His604=) c.1134T= (p.His378=) c.1719T= (p.His573=) c.1588T= (n.1588T=) c.396T= (p.His132=) c.969T= (p.His323=) c.1647T= (p.His549=) c.1770T= (p.His590=) c.1044T= (p.His348=) c.1650T= (p.His550=) n.2423+2444A= n.2009T=
10	g.18539625_18539628delinsTAAA	CA1894174101	CACNB2,NSUN6	c.1740_1743delinsTAAA (p.His580=) c.1605_1608delinsTAAA (p.His535=) c.1728_1731delinsTAAA (p.His576=) c.1800_1803delinsTAAA (p.His600=) c.1884_1887delinsTAAA (p.His628=) c.1722_1725delinsTAAA (p.His574=) c.1509_1512delinsTAAA (p.His503=) c.1686_1689delinsTAAA (p.His562=) c.1025_1028delinsTAAA (n.1025_1028delinsTAAA) c.1626_1629delinsTAAA (p.His542=) c.1158_1161delinsTAAA (n.1158_1161delinsTAAA) c.1441_1444delinsTAAA (n.1441_1444delinsTAAA) c.1123_1126delinsTAAA (n.1123_1126delinsTAAA) c.1704_1707delinsTAAA (p.His568=) c.984_987delinsTAAA (n.984_987delinsTAAA) c.1812_1815delinsTAAA (p.His604=) c.1134_1137delinsTAAA (p.His378=) c.1719_1722delinsTAAA (p.His573=) c.1588_1591delinsTAAA (n.1588_1591delinsTAAA) c.396_399delinsTAAA (p.His132=) c.969_972delinsTAAA (p.His323=) c.1647_1650delinsTAAA (p.His549=) c.1770_1773delinsTAAA (p.His590=) c.1044_1047delinsTAAA (p.His348=) c.1650_1653delinsTAAA (p.His550=) n.2423+2441_2423+2444delinsTTTA n.2009_2012delinsTAAA
10	g.18539626A=	CA1894174109	CACNB2,NSUN6	c.1741A= (p.Lys581=) c.1606A= (p.Lys536=) c.1729A= (p.Lys577=) c.1801A= (p.Lys601=) c.1885A= (p.Lys629=) c.1723A= (p.Lys575=) c.1510A= (p.Lys504=) c.1687A= (p.Lys563=) c.1026A= (n.1026A=) c.1627A= (p.Lys543=) c.1159A= (n.1159A=) c.1442A= (n.1442A=) c.1124A= (n.1124A=) c.1705A= (p.Lys569=) c.985A= (n.985A=) c.1813A= (p.Lys605=) c.1135A= (p.Lys379=) c.1720A= (p.Lys574=) c.1589A= (n.1589A=) c.397A= (p.Lys133=) c.970A= (p.Lys324=) c.1648A= (p.Lys550=) c.1771A= (p.Lys591=) c.1045A= (p.Lys349=) c.1651A= (p.Lys551=) n.2423+2443T= n.2010A=
10	g.18539626A>C	CA376072749	CACNB2,NSUN6	c.1741A>C (p.Lys581Gln) c.1606A>C (p.Lys536Gln) c.1729A>C (p.Lys577Gln) c.1801A>C (p.Lys601Gln) c.1885A>C (p.Lys629Gln) c.1723A>C (p.Lys575Gln) c.1510A>C (p.Lys504Gln) c.1687A>C (p.Lys563Gln) c.1026A>C (n.1026A>C) c.1627A>C (p.Lys543Gln) c.1159A>C (n.1159A>C) c.1442A>C (n.1442A>C) c.1124A>C (n.1124A>C) c.1705A>C (p.Lys569Gln) c.985A>C (n.985A>C) c.1813A>C (p.Lys605Gln) c.1135A>C (p.Lys379Gln) c.1720A>C (p.Lys574Gln) c.1589A>C (n.1589A>C) c.397A>C (p.Lys133Gln) c.970A>C (p.Lys324Gln) c.1648A>C (p.Lys550Gln) c.1771A>C (p.Lys591Gln) c.1045A>C (p.Lys349Gln) c.1651A>C (p.Lys551Gln) n.2423+2443T>G n.2010A>C
10	g.18539626A>G	CA376072750	CACNB2,NSUN6	c.1741A>G (p.Lys581Glu) c.1606A>G (p.Lys536Glu) c.1729A>G (p.Lys577Glu) c.1801A>G (p.Lys601Glu) c.1885A>G (p.Lys629Glu) c.1723A>G (p.Lys575Glu) c.1510A>G (p.Lys504Glu) c.1687A>G (p.Lys563Glu) c.1026A>G (n.1026A>G) c.1627A>G (p.Lys543Glu) c.1159A>G (n.1159A>G) c.1442A>G (n.1442A>G) c.1124A>G (n.1124A>G) c.1705A>G (p.Lys569Glu) c.985A>G (n.985A>G) c.1813A>G (p.Lys605Glu) c.1135A>G (p.Lys379Glu) c.1720A>G (p.Lys574Glu) c.1589A>G (n.1589A>G) c.397A>G (p.Lys133Glu) c.970A>G (p.Lys324Glu) c.1648A>G (p.Lys550Glu) c.1771A>G (p.Lys591Glu) c.1045A>G (p.Lys349Glu) c.1651A>G (p.Lys551Glu) n.2423+2443T>C n.2010A>G	ClinVar dbSNP
10	g.18539626A>T	CA376072751	CACNB2,NSUN6	c.1741A>T (p.Lys581Ter) c.1606A>T (p.Lys536Ter) c.1729A>T (p.Lys577Ter) c.1801A>T (p.Lys601Ter) c.1885A>T (p.Lys629Ter) c.1723A>T (p.Lys575Ter) c.1510A>T (p.Lys504Ter) c.1687A>T (p.Lys563Ter) c.1026A>T (n.1026A>T) c.1627A>T (p.Lys543Ter) c.1159A>T (n.1159A>T) c.1442A>T (n.1442A>T) c.1124A>T (n.1124A>T) c.1705A>T (p.Lys569Ter) c.985A>T (n.985A>T) c.1813A>T (p.Lys605Ter) c.1135A>T (p.Lys379Ter) c.1720A>T (p.Lys574Ter) c.1589A>T (n.1589A>T) c.397A>T (p.Lys133Ter) c.970A>T (p.Lys324Ter) c.1648A>T (p.Lys550Ter) c.1771A>T (p.Lys591Ter) c.1045A>T (p.Lys349Ter) c.1651A>T (p.Lys551Ter) n.2423+2443T>A n.2010A>T	dbSNP
10	g.18539626_18539628del	CA662520889	CACNB2,NSUN6	c.1741_1743del (p.Lys581del) c.1606_1608del (p.Lys536del) c.1729_1731del (p.Lys577del) c.1801_1803del (p.Lys601del) c.1885_1887del (p.Lys629del) c.1723_1725del (p.Lys575del) c.1510_1512del (p.Lys504del) c.1687_1689del (p.Lys563del) c.1026_1028del (n.1026_1028del) c.1627_1629del (p.Lys543del) c.1159_1161del (n.1159_1161del) c.1442_1444del (n.1442_1444del) c.1124_1126del (n.1124_1126del) c.1705_1707del (p.Lys569del) c.985_987del (n.985_987del) c.1813_1815del (p.Lys605del) c.1135_1137del (p.Lys379del) c.1720_1722del (p.Lys574del) c.1589_1591del (n.1589_1591del) c.397_399del (p.Lys133del) c.970_972del (p.Lys324del) c.1648_1650del (p.Lys550del) c.1771_1773del (p.Lys591del) c.1045_1047del (p.Lys349del) c.1651_1653del (p.Lys551del) n.2423+2441_2423+2443del n.2010_2012del	dbSNP
10	g.18539626_18539634delinsAAATCCAAG	CA1894174108	CACNB2,NSUN6	c.1741_1749delinsAAATCCAAG (p.Lys581=) c.1606_1614delinsAAATCCAAG (p.Lys536=) c.1729_1737delinsAAATCCAAG (p.Lys577=) c.1801_1809delinsAAATCCAAG (p.Lys601=) c.1885_1893delinsAAATCCAAG (p.Lys629=) c.1723_1731delinsAAATCCAAG (p.Lys575=) c.1510_1518delinsAAATCCAAG (p.Lys504=) c.1687_1695delinsAAATCCAAG (p.Lys563=) c.1026_1034delinsAAATCCAAG (n.1026_1034delinsAAATCCAAG) c.1627_1635delinsAAATCCAAG (p.Lys543=) c.1159_1167delinsAAATCCAAG (n.1159_1167delinsAAATCCAAG) c.1442_1450delinsAAATCCAAG (n.1442_1450delinsAAATCCAAG) c.1124_1132delinsAAATCCAAG (n.1124_1132delinsAAATCCAAG) c.1705_1713delinsAAATCCAAG (p.Lys569=) c.985_993delinsAAATCCAAG (n.985_993delinsAAATCCAAG) c.1813_1821delinsAAATCCAAG (p.Lys605=) c.1135_1143delinsAAATCCAAG (p.Lys379=) c.1720_1728delinsAAATCCAAG (p.Lys574=) c.1589_1597delinsAAATCCAAG (n.1589_1597delinsAAATCCAAG) c.397_405delinsAAATCCAAG (p.Lys133=) c.970_978delinsAAATCCAAG (p.Lys324=) c.1648_1656delinsAAATCCAAG (p.Lys550=) c.1771_1779delinsAAATCCAAG (p.Lys591=) c.1045_1053delinsAAATCCAAG (p.Lys349=) c.1651_1659delinsAAATCCAAG (p.Lys551=) n.2423+2435_2423+2443delinsCTTGGATTT n.2010_2018delinsAAATCCAAG
10	g.18539627A=	CA1894174117	CACNB2,NSUN6	c.1742A= (p.Lys581=) c.1607A= (p.Lys536=) c.1730A= (p.Lys577=) c.1802A= (p.Lys601=) c.1886A= (p.Lys629=) c.1724A= (p.Lys575=) c.1511A= (p.Lys504=) c.1688A= (p.Lys563=) c.1027A= (n.1027A=) c.1628A= (p.Lys543=) c.1160A= (n.1160A=) c.1443A= (n.1443A=) c.1125A= (n.1125A=) c.1706A= (p.Lys569=) c.986A= (n.986A=) c.1814A= (p.Lys605=) c.1136A= (p.Lys379=) c.1721A= (p.Lys574=) c.1590A= (n.1590A=) c.398A= (p.Lys133=) c.971A= (p.Lys324=) c.1649A= (p.Lys550=) c.1772A= (p.Lys591=) c.1046A= (p.Lys349=) c.1652A= (p.Lys551=) n.2423+2442T= n.2011A=
10	g.18539627A>C	CA376072752	CACNB2,NSUN6	c.1742A>C (p.Lys581Thr) c.1607A>C (p.Lys536Thr) c.1730A>C (p.Lys577Thr) c.1802A>C (p.Lys601Thr) c.1886A>C (p.Lys629Thr) c.1724A>C (p.Lys575Thr) c.1511A>C (p.Lys504Thr) c.1688A>C (p.Lys563Thr) c.1027A>C (n.1027A>C) c.1628A>C (p.Lys543Thr) c.1160A>C (n.1160A>C) c.1443A>C (n.1443A>C) c.1125A>C (n.1125A>C) c.1706A>C (p.Lys569Thr) c.986A>C (n.986A>C) c.1814A>C (p.Lys605Thr) c.1136A>C (p.Lys379Thr) c.1721A>C (p.Lys574Thr) c.1590A>C (n.1590A>C) c.398A>C (p.Lys133Thr) c.971A>C (p.Lys324Thr) c.1649A>C (p.Lys550Thr) c.1772A>C (p.Lys591Thr) c.1046A>C (p.Lys349Thr) c.1652A>C (p.Lys551Thr) n.2423+2442T>G n.2011A>C	gnomAD v4
10	g.18539627A>G	CA376072753	CACNB2,NSUN6	c.1742A>G (p.Lys581Arg) c.1607A>G (p.Lys536Arg) c.1730A>G (p.Lys577Arg) c.1802A>G (p.Lys601Arg) c.1886A>G (p.Lys629Arg) c.1724A>G (p.Lys575Arg) c.1511A>G (p.Lys504Arg) c.1688A>G (p.Lys563Arg) c.1027A>G (n.1027A>G) c.1628A>G (p.Lys543Arg) c.1160A>G (n.1160A>G) c.1443A>G (n.1443A>G) c.1125A>G (n.1125A>G) c.1706A>G (p.Lys569Arg) c.986A>G (n.986A>G) c.1814A>G (p.Lys605Arg) c.1136A>G (p.Lys379Arg) c.1721A>G (p.Lys574Arg) c.1590A>G (n.1590A>G) c.398A>G (p.Lys133Arg) c.971A>G (p.Lys324Arg) c.1649A>G (p.Lys550Arg) c.1772A>G (p.Lys591Arg) c.1046A>G (p.Lys349Arg) c.1652A>G (p.Lys551Arg) n.2423+2442T>C n.2011A>G
10	g.18539627A>T	CA376072754	CACNB2,NSUN6	c.1742A>T (p.Lys581Ile) c.1607A>T (p.Lys536Ile) c.1730A>T (p.Lys577Ile) c.1802A>T (p.Lys601Ile) c.1886A>T (p.Lys629Ile) c.1724A>T (p.Lys575Ile) c.1511A>T (p.Lys504Ile) c.1688A>T (p.Lys563Ile) c.1027A>T (n.1027A>T) c.1628A>T (p.Lys543Ile) c.1160A>T (n.1160A>T) c.1443A>T (n.1443A>T) c.1125A>T (n.1125A>T) c.1706A>T (p.Lys569Ile) c.986A>T (n.986A>T) c.1814A>T (p.Lys605Ile) c.1136A>T (p.Lys379Ile) c.1721A>T (p.Lys574Ile) c.1590A>T (n.1590A>T) c.398A>T (p.Lys133Ile) c.971A>T (p.Lys324Ile) c.1649A>T (p.Lys550Ile) c.1772A>T (p.Lys591Ile) c.1046A>T (p.Lys349Ile) c.1652A>T (p.Lys551Ile) n.2423+2442T>A n.2011A>T
10	g.18539627_18539634del	CA592060479	CACNB2,NSUN6	c.1742_1749del (p.Lys581ArgfsTer5) c.1607_1614del (p.Lys536ArgfsTer5) c.1730_1737del (p.Lys577ArgfsTer5) c.1802_1809del (p.Lys601ArgfsTer5) c.1886_1893del (p.Lys629ArgfsTer5) c.1724_1731del (p.Lys575ArgfsTer5) c.1511_1518del (p.Lys504ArgfsTer5) c.1688_1695del (p.Lys563ArgfsTer5) c.1027_1034del (n.1027_1034del) c.1628_1635del (p.Lys543ArgfsTer5) c.1160_1167del (n.1160_1167del) c.1443_1450del (n.1443_1450del) c.1125_1132del (n.1125_1132del) c.1706_1713del (p.Lys569ArgfsTer5) c.986_993del (n.986_993del) c.1814_1821del (p.Lys605ArgfsTer5) c.1136_1143del (p.Lys379ArgfsTer5) c.1721_1728del (p.Lys574ArgfsTer5) c.1590_1597del (n.1590_1597del) c.398_405del (p.Lys133ArgfsTer5) c.971_978del (p.Lys324ArgfsTer5) c.1649_1656del (p.Lys550ArgfsTer5) c.1772_1779del (p.Lys591ArgfsTer5) c.1046_1053del (p.Lys349ArgfsTer5) c.1652_1659del (p.Lys551ArgfsTer5) n.2423+2435_2423+2442del n.2011_2018del	dbSNP gnomAD v2 gnomAD v4
10	g.18539628A>C	CA376072756	CACNB2,NSUN6	c.1743A>C (p.Lys581Asn) c.1608A>C (p.Lys536Asn) c.1731A>C (p.Lys577Asn) c.1803A>C (p.Lys601Asn) c.1887A>C (p.Lys629Asn) c.1725A>C (p.Lys575Asn) c.1512A>C (p.Lys504Asn) c.1689A>C (p.Lys563Asn) c.1028A>C (n.1028A>C) c.1629A>C (p.Lys543Asn) c.1161A>C (n.1161A>C) c.1444A>C (n.1444A>C) c.1126A>C (n.1126A>C) c.1707A>C (p.Lys569Asn) c.987A>C (n.987A>C) c.1815A>C (p.Lys605Asn) c.1137A>C (p.Lys379Asn) c.1722A>C (p.Lys574Asn) c.1591A>C (n.1591A>C) c.399A>C (p.Lys133Asn) c.972A>C (p.Lys324Asn) c.1650A>C (p.Lys550Asn) c.1773A>C (p.Lys591Asn) c.1047A>C (p.Lys349Asn) c.1653A>C (p.Lys551Asn) n.2423+2441T>G n.2012A>C
10	g.18539628A>G	CA468649714	CACNB2,NSUN6	c.1743A>G (p.Lys581=) c.1608A>G (p.Lys536=) c.1731A>G (p.Lys577=) c.1803A>G (p.Lys601=) c.1887A>G (p.Lys629=) c.1725A>G (p.Lys575=) c.1512A>G (p.Lys504=) c.1689A>G (p.Lys563=) c.1028A>G (n.1028A>G) c.1629A>G (p.Lys543=) c.1161A>G (n.1161A>G) c.1444A>G (n.1444A>G) c.1126A>G (n.1126A>G) c.1707A>G (p.Lys569=) c.987A>G (n.987A>G) c.1815A>G (p.Lys605=) c.1137A>G (p.Lys379=) c.1722A>G (p.Lys574=) c.1591A>G (n.1591A>G) c.399A>G (p.Lys133=) c.972A>G (p.Lys324=) c.1650A>G (p.Lys550=) c.1773A>G (p.Lys591=) c.1047A>G (p.Lys349=) c.1653A>G (p.Lys551=) n.2423+2441T>C n.2012A>G	ClinVar dbSNP
10	g.18539628A>T	CA376072755	CACNB2,NSUN6	c.1743A>T (p.Lys581Asn) c.1608A>T (p.Lys536Asn) c.1731A>T (p.Lys577Asn) c.1803A>T (p.Lys601Asn) c.1887A>T (p.Lys629Asn) c.1725A>T (p.Lys575Asn) c.1512A>T (p.Lys504Asn) c.1689A>T (p.Lys563Asn) c.1028A>T (n.1028A>T) c.1629A>T (p.Lys543Asn) c.1161A>T (n.1161A>T) c.1444A>T (n.1444A>T) c.1126A>T (n.1126A>T) c.1707A>T (p.Lys569Asn) c.987A>T (n.987A>T) c.1815A>T (p.Lys605Asn) c.1137A>T (p.Lys379Asn) c.1722A>T (p.Lys574Asn) c.1591A>T (n.1591A>T) c.399A>T (p.Lys133Asn) c.972A>T (p.Lys324Asn) c.1650A>T (p.Lys550Asn) c.1773A>T (p.Lys591Asn) c.1047A>T (p.Lys349Asn) c.1653A>T (p.Lys551Asn) n.2423+2441T>A n.2012A>T
10	g.18539628_18539663dup	CA5430194	CACNB2,NSUN6	c.1743_1778dup (p.Val593_Ile594insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1608_1643dup (p.Val548_Ile549insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1731_1766dup (p.Val589_Ile590insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1803_1838dup (p.Val613_Ile614insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1887_1922dup (p.Val641_Ile642insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1725_1760dup (p.Val587_Ile588insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1512_1547dup (p.Val516_Ile517insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1689_1724dup (p.Val575_Ile576insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1028_1063dup (n.1028_1063dup) c.1629_1664dup (p.Val555_Ile556insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1161_1196dup (n.1161_1196dup) c.1444_1479dup (n.1444_1479dup) c.1126_1161dup (n.1126_1161dup) c.1707_1742dup (p.Val581_Ile582insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.987_1022dup (n.987_1022dup) c.1815_1850dup (p.Val617_Ile618insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1137_1172dup (p.Val391_Ile392insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1722_1757dup (p.Val586_Ile587insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1591_1626dup (n.1591_1626dup) c.399_434dup (p.Val145_Ile146insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.972_1007dup (p.Val336_Ile337insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1650_1685dup (p.Val562_Ile563insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1773_1808dup (p.Val603_Ile604insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1047_1082dup (p.Val361_Ile362insSerLysAspArgTyrCysGluLysAspGlyGluVal) c.1653_1688dup (p.Val563_Ile564insSerLysAspArgTyrCysGluLysAspGlyGluVal) n.2423+2406_2423+2441dup n.2012_2047dup	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539629T>A	CA376072757	CACNB2,NSUN6	c.1744T>A (p.Ser582Thr) c.1609T>A (p.Ser537Thr) c.1732T>A (p.Ser578Thr) c.1804T>A (p.Ser602Thr) c.1888T>A (p.Ser630Thr) c.1726T>A (p.Ser576Thr) c.1513T>A (p.Ser505Thr) c.1690T>A (p.Ser564Thr) c.1029T>A (n.1029T>A) c.1630T>A (p.Ser544Thr) c.1162T>A (n.1162T>A) c.1445T>A (n.1445T>A) c.1127T>A (n.1127T>A) c.1708T>A (p.Ser570Thr) c.988T>A (n.988T>A) c.1816T>A (p.Ser606Thr) c.1138T>A (p.Ser380Thr) c.1723T>A (p.Ser575Thr) c.1592T>A (n.1592T>A) c.400T>A (p.Ser134Thr) c.973T>A (p.Ser325Thr) c.1651T>A (p.Ser551Thr) c.1774T>A (p.Ser592Thr) c.1048T>A (p.Ser350Thr) c.1654T>A (p.Ser552Thr) n.2423+2440A>T n.2013T>A
10	g.18539629T>C	CA376072758	CACNB2,NSUN6	c.1744T>C (p.Ser582Pro) c.1609T>C (p.Ser537Pro) c.1732T>C (p.Ser578Pro) c.1804T>C (p.Ser602Pro) c.1888T>C (p.Ser630Pro) c.1726T>C (p.Ser576Pro) c.1513T>C (p.Ser505Pro) c.1690T>C (p.Ser564Pro) c.1029T>C (n.1029T>C) c.1630T>C (p.Ser544Pro) c.1162T>C (n.1162T>C) c.1445T>C (n.1445T>C) c.1127T>C (n.1127T>C) c.1708T>C (p.Ser570Pro) c.988T>C (n.988T>C) c.1816T>C (p.Ser606Pro) c.1138T>C (p.Ser380Pro) c.1723T>C (p.Ser575Pro) c.1592T>C (n.1592T>C) c.400T>C (p.Ser134Pro) c.973T>C (p.Ser325Pro) c.1651T>C (p.Ser551Pro) c.1774T>C (p.Ser592Pro) c.1048T>C (p.Ser350Pro) c.1654T>C (p.Ser552Pro) n.2423+2440A>G n.2013T>C
10	g.18539629T>G	CA376072759	CACNB2,NSUN6	c.1744T>G (p.Ser582Ala) c.1609T>G (p.Ser537Ala) c.1732T>G (p.Ser578Ala) c.1804T>G (p.Ser602Ala) c.1888T>G (p.Ser630Ala) c.1726T>G (p.Ser576Ala) c.1513T>G (p.Ser505Ala) c.1690T>G (p.Ser564Ala) c.1029T>G (n.1029T>G) c.1630T>G (p.Ser544Ala) c.1162T>G (n.1162T>G) c.1445T>G (n.1445T>G) c.1127T>G (n.1127T>G) c.1708T>G (p.Ser570Ala) c.988T>G (n.988T>G) c.1816T>G (p.Ser606Ala) c.1138T>G (p.Ser380Ala) c.1723T>G (p.Ser575Ala) c.1592T>G (n.1592T>G) c.400T>G (p.Ser134Ala) c.973T>G (p.Ser325Ala) c.1651T>G (p.Ser551Ala) c.1774T>G (p.Ser592Ala) c.1048T>G (p.Ser350Ala) c.1654T>G (p.Ser552Ala) n.2423+2440A>C n.2013T>G	gnomAD v4
10	g.18539630C>A	CA376072760	CACNB2,NSUN6	c.1745C>A (p.Ser582Tyr) c.1610C>A (p.Ser537Tyr) c.1733C>A (p.Ser578Tyr) c.1805C>A (p.Ser602Tyr) c.1889C>A (p.Ser630Tyr) c.1727C>A (p.Ser576Tyr) c.1514C>A (p.Ser505Tyr) c.1691C>A (p.Ser564Tyr) c.1030C>A (n.1030C>A) c.1631C>A (p.Ser544Tyr) c.1163C>A (n.1163C>A) c.1446C>A (n.1446C>A) c.1128C>A (n.1128C>A) c.1709C>A (p.Ser570Tyr) c.989C>A (n.989C>A) c.1817C>A (p.Ser606Tyr) c.1139C>A (p.Ser380Tyr) c.1724C>A (p.Ser575Tyr) c.1593C>A (n.1593C>A) c.401C>A (p.Ser134Tyr) c.974C>A (p.Ser325Tyr) c.1652C>A (p.Ser551Tyr) c.1775C>A (p.Ser592Tyr) c.1049C>A (p.Ser350Tyr) c.1655C>A (p.Ser552Tyr) n.2423+2439G>T n.2014C>A
10	g.18539630C>G	CA376072761	CACNB2,NSUN6	c.1745C>G (p.Ser582Cys) c.1610C>G (p.Ser537Cys) c.1733C>G (p.Ser578Cys) c.1805C>G (p.Ser602Cys) c.1889C>G (p.Ser630Cys) c.1727C>G (p.Ser576Cys) c.1514C>G (p.Ser505Cys) c.1691C>G (p.Ser564Cys) c.1030C>G (n.1030C>G) c.1631C>G (p.Ser544Cys) c.1163C>G (n.1163C>G) c.1446C>G (n.1446C>G) c.1128C>G (n.1128C>G) c.1709C>G (p.Ser570Cys) c.989C>G (n.989C>G) c.1817C>G (p.Ser606Cys) c.1139C>G (p.Ser380Cys) c.1724C>G (p.Ser575Cys) c.1593C>G (n.1593C>G) c.401C>G (p.Ser134Cys) c.974C>G (p.Ser325Cys) c.1652C>G (p.Ser551Cys) c.1775C>G (p.Ser592Cys) c.1049C>G (p.Ser350Cys) c.1655C>G (p.Ser552Cys) n.2423+2439G>C n.2014C>G
10	g.18539630C>T	CA376072762	CACNB2,NSUN6	c.1745C>T (p.Ser582Phe) c.1610C>T (p.Ser537Phe) c.1733C>T (p.Ser578Phe) c.1805C>T (p.Ser602Phe) c.1889C>T (p.Ser630Phe) c.1727C>T (p.Ser576Phe) c.1514C>T (p.Ser505Phe) c.1691C>T (p.Ser564Phe) c.1030C>T (n.1030C>T) c.1631C>T (p.Ser544Phe) c.1163C>T (n.1163C>T) c.1446C>T (n.1446C>T) c.1128C>T (n.1128C>T) c.1709C>T (p.Ser570Phe) c.989C>T (n.989C>T) c.1817C>T (p.Ser606Phe) c.1139C>T (p.Ser380Phe) c.1724C>T (p.Ser575Phe) c.1593C>T (n.1593C>T) c.401C>T (p.Ser134Phe) c.974C>T (p.Ser325Phe) c.1652C>T (p.Ser551Phe) c.1775C>T (p.Ser592Phe) c.1049C>T (p.Ser350Phe) c.1655C>T (p.Ser552Phe) n.2423+2439G>A n.2014C>T	ClinVar
10	g.18539631C>A	CA468649719	CACNB2,NSUN6	c.1746C>A (p.Ser582=) c.1611C>A (p.Ser537=) c.1734C>A (p.Ser578=) c.1806C>A (p.Ser602=) c.1890C>A (p.Ser630=) c.1728C>A (p.Ser576=) c.1515C>A (p.Ser505=) c.1692C>A (p.Ser564=) c.1031C>A (n.1031C>A) c.1632C>A (p.Ser544=) c.1164C>A (n.1164C>A) c.1447C>A (n.1447C>A) c.1129C>A (n.1129C>A) c.1710C>A (p.Ser570=) c.990C>A (n.990C>A) c.1818C>A (p.Ser606=) c.1140C>A (p.Ser380=) c.1725C>A (p.Ser575=) c.1594C>A (n.1594C>A) c.402C>A (p.Ser134=) c.975C>A (p.Ser325=) c.1653C>A (p.Ser551=) c.1776C>A (p.Ser592=) c.1050C>A (p.Ser350=) c.1656C>A (p.Ser552=) n.2423+2438G>T n.2015C>A
10	g.18539631C=	CA1894174123	CACNB2,NSUN6	c.1746C= (p.Ser582=) c.1611C= (p.Ser537=) c.1734C= (p.Ser578=) c.1806C= (p.Ser602=) c.1890C= (p.Ser630=) c.1728C= (p.Ser576=) c.1515C= (p.Ser505=) c.1692C= (p.Ser564=) c.1031C= (n.1031C=) c.1632C= (p.Ser544=) c.1164C= (n.1164C=) c.1447C= (n.1447C=) c.1129C= (n.1129C=) c.1710C= (p.Ser570=) c.990C= (n.990C=) c.1818C= (p.Ser606=) c.1140C= (p.Ser380=) c.1725C= (p.Ser575=) c.1594C= (n.1594C=) c.402C= (p.Ser134=) c.975C= (p.Ser325=) c.1653C= (p.Ser551=) c.1776C= (p.Ser592=) c.1050C= (p.Ser350=) c.1656C= (p.Ser552=) n.2423+2438G= n.2015C=
10	g.18539631C>G	CA5430195	CACNB2,NSUN6	c.1746C>G (p.Ser582=) c.1611C>G (p.Ser537=) c.1734C>G (p.Ser578=) c.1806C>G (p.Ser602=) c.1890C>G (p.Ser630=) c.1728C>G (p.Ser576=) c.1515C>G (p.Ser505=) c.1692C>G (p.Ser564=) c.1031C>G (n.1031C>G) c.1632C>G (p.Ser544=) c.1164C>G (n.1164C>G) c.1447C>G (n.1447C>G) c.1129C>G (n.1129C>G) c.1710C>G (p.Ser570=) c.990C>G (n.990C>G) c.1818C>G (p.Ser606=) c.1140C>G (p.Ser380=) c.1725C>G (p.Ser575=) c.1594C>G (n.1594C>G) c.402C>G (p.Ser134=) c.975C>G (p.Ser325=) c.1653C>G (p.Ser551=) c.1776C>G (p.Ser592=) c.1050C>G (p.Ser350=) c.1656C>G (p.Ser552=) n.2423+2438G>C n.2015C>G	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539631C>T	CA468649721	CACNB2,NSUN6	c.1746C>T (p.Ser582=) c.1611C>T (p.Ser537=) c.1734C>T (p.Ser578=) c.1806C>T (p.Ser602=) c.1890C>T (p.Ser630=) c.1728C>T (p.Ser576=) c.1515C>T (p.Ser505=) c.1692C>T (p.Ser564=) c.1031C>T (n.1031C>T) c.1632C>T (p.Ser544=) c.1164C>T (n.1164C>T) c.1447C>T (n.1447C>T) c.1129C>T (n.1129C>T) c.1710C>T (p.Ser570=) c.990C>T (n.990C>T) c.1818C>T (p.Ser606=) c.1140C>T (p.Ser380=) c.1725C>T (p.Ser575=) c.1594C>T (n.1594C>T) c.402C>T (p.Ser134=) c.975C>T (p.Ser325=) c.1653C>T (p.Ser551=) c.1776C>T (p.Ser592=) c.1050C>T (p.Ser350=) c.1656C>T (p.Ser552=) n.2423+2438G>A n.2015C>T
10	g.18539632A=	CA1894174132	CACNB2,NSUN6	c.1747A= (p.Lys583=) c.1612A= (p.Lys538=) c.1735A= (p.Lys579=) c.1807A= (p.Lys603=) c.1891A= (p.Lys631=) c.1729A= (p.Lys577=) c.1516A= (p.Lys506=) c.1693A= (p.Lys565=) c.1032A= (n.1032A=) c.1633A= (p.Lys545=) c.1165A= (n.1165A=) c.1448A= (n.1448A=) c.1130A= (n.1130A=) c.1711A= (p.Lys571=) c.991A= (n.991A=) c.1819A= (p.Lys607=) c.1141A= (p.Lys381=) c.1726A= (p.Lys576=) c.1595A= (n.1595A=) c.403A= (p.Lys135=) c.976A= (p.Lys326=) c.1654A= (p.Lys552=) c.1777A= (p.Lys593=) c.1051A= (p.Lys351=) c.1657A= (p.Lys553=) n.2423+2437T= n.2016A=
10	g.18539632A>C	CA376072763	CACNB2,NSUN6	c.1747A>C (p.Lys583Gln) c.1612A>C (p.Lys538Gln) c.1735A>C (p.Lys579Gln) c.1807A>C (p.Lys603Gln) c.1891A>C (p.Lys631Gln) c.1729A>C (p.Lys577Gln) c.1516A>C (p.Lys506Gln) c.1693A>C (p.Lys565Gln) c.1032A>C (n.1032A>C) c.1633A>C (p.Lys545Gln) c.1165A>C (n.1165A>C) c.1448A>C (n.1448A>C) c.1130A>C (n.1130A>C) c.1711A>C (p.Lys571Gln) c.991A>C (n.991A>C) c.1819A>C (p.Lys607Gln) c.1141A>C (p.Lys381Gln) c.1726A>C (p.Lys576Gln) c.1595A>C (n.1595A>C) c.403A>C (p.Lys135Gln) c.976A>C (p.Lys326Gln) c.1654A>C (p.Lys552Gln) c.1777A>C (p.Lys593Gln) c.1051A>C (p.Lys351Gln) c.1657A>C (p.Lys553Gln) n.2423+2437T>G n.2016A>C
10	g.18539632A>G	CA5430196	CACNB2,NSUN6	c.1747A>G (p.Lys583Glu) c.1612A>G (p.Lys538Glu) c.1735A>G (p.Lys579Glu) c.1807A>G (p.Lys603Glu) c.1891A>G (p.Lys631Glu) c.1729A>G (p.Lys577Glu) c.1516A>G (p.Lys506Glu) c.1693A>G (p.Lys565Glu) c.1032A>G (n.1032A>G) c.1633A>G (p.Lys545Glu) c.1165A>G (n.1165A>G) c.1448A>G (n.1448A>G) c.1130A>G (n.1130A>G) c.1711A>G (p.Lys571Glu) c.991A>G (n.991A>G) c.1819A>G (p.Lys607Glu) c.1141A>G (p.Lys381Glu) c.1726A>G (p.Lys576Glu) c.1595A>G (n.1595A>G) c.403A>G (p.Lys135Glu) c.976A>G (p.Lys326Glu) c.1654A>G (p.Lys552Glu) c.1777A>G (p.Lys593Glu) c.1051A>G (p.Lys351Glu) c.1657A>G (p.Lys553Glu) n.2423+2437T>C n.2016A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539632A>T	CA376072764	CACNB2,NSUN6	c.1747A>T (p.Lys583Ter) c.1612A>T (p.Lys538Ter) c.1735A>T (p.Lys579Ter) c.1807A>T (p.Lys603Ter) c.1891A>T (p.Lys631Ter) c.1729A>T (p.Lys577Ter) c.1516A>T (p.Lys506Ter) c.1693A>T (p.Lys565Ter) c.1032A>T (n.1032A>T) c.1633A>T (p.Lys545Ter) c.1165A>T (n.1165A>T) c.1448A>T (n.1448A>T) c.1130A>T (n.1130A>T) c.1711A>T (p.Lys571Ter) c.991A>T (n.991A>T) c.1819A>T (p.Lys607Ter) c.1141A>T (p.Lys381Ter) c.1726A>T (p.Lys576Ter) c.1595A>T (n.1595A>T) c.403A>T (p.Lys135Ter) c.976A>T (p.Lys326Ter) c.1654A>T (p.Lys552Ter) c.1777A>T (p.Lys593Ter) c.1051A>T (p.Lys351Ter) c.1657A>T (p.Lys553Ter) n.2423+2437T>A n.2016A>T	dbSNP
10	g.18539633A=	CA1894174143	CACNB2,NSUN6	c.1748A= (p.Lys583=) c.1613A= (p.Lys538=) c.1736A= (p.Lys579=) c.1808A= (p.Lys603=) c.1892A= (p.Lys631=) c.1730A= (p.Lys577=) c.1517A= (p.Lys506=) c.1694A= (p.Lys565=) c.1033A= (n.1033A=) c.1634A= (p.Lys545=) c.1166A= (n.1166A=) c.1449A= (n.1449A=) c.1131A= (n.1131A=) c.1712A= (p.Lys571=) c.992A= (n.992A=) c.1820A= (p.Lys607=) c.1142A= (p.Lys381=) c.1727A= (p.Lys576=) c.1596A= (n.1596A=) c.404A= (p.Lys135=) c.977A= (p.Lys326=) c.1655A= (p.Lys552=) c.1778A= (p.Lys593=) c.1052A= (p.Lys351=) c.1658A= (p.Lys553=) n.2423+2436T= n.2017A=
10	g.18539633A>C	CA376072765	CACNB2,NSUN6	c.1748A>C (p.Lys583Thr) c.1613A>C (p.Lys538Thr) c.1736A>C (p.Lys579Thr) c.1808A>C (p.Lys603Thr) c.1892A>C (p.Lys631Thr) c.1730A>C (p.Lys577Thr) c.1517A>C (p.Lys506Thr) c.1694A>C (p.Lys565Thr) c.1033A>C (n.1033A>C) c.1634A>C (p.Lys545Thr) c.1166A>C (n.1166A>C) c.1449A>C (n.1449A>C) c.1131A>C (n.1131A>C) c.1712A>C (p.Lys571Thr) c.992A>C (n.992A>C) c.1820A>C (p.Lys607Thr) c.1142A>C (p.Lys381Thr) c.1727A>C (p.Lys576Thr) c.1596A>C (n.1596A>C) c.404A>C (p.Lys135Thr) c.977A>C (p.Lys326Thr) c.1655A>C (p.Lys552Thr) c.1778A>C (p.Lys593Thr) c.1052A>C (p.Lys351Thr) c.1658A>C (p.Lys553Thr) n.2423+2436T>G n.2017A>C
10	g.18539633A>G	CA236662	CACNB2,NSUN6	c.1748A>G (p.Lys583Arg) c.1613A>G (p.Lys538Arg) c.1736A>G (p.Lys579Arg) c.1808A>G (p.Lys603Arg) c.1892A>G (p.Lys631Arg) c.1730A>G (p.Lys577Arg) c.1517A>G (p.Lys506Arg) c.1694A>G (p.Lys565Arg) c.1033A>G (n.1033A>G) c.1634A>G (p.Lys545Arg) c.1166A>G (n.1166A>G) c.1449A>G (n.1449A>G) c.1131A>G (n.1131A>G) c.1712A>G (p.Lys571Arg) c.992A>G (n.992A>G) c.1820A>G (p.Lys607Arg) c.1142A>G (p.Lys381Arg) c.1727A>G (p.Lys576Arg) c.1596A>G (n.1596A>G) c.404A>G (p.Lys135Arg) c.977A>G (p.Lys326Arg) c.1655A>G (p.Lys552Arg) c.1778A>G (p.Lys593Arg) c.1052A>G (p.Lys351Arg) c.1658A>G (p.Lys553Arg) n.2423+2436T>C n.2017A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.18539633A>T	CA376072766	CACNB2,NSUN6	c.1748A>T (p.Lys583Met) c.1613A>T (p.Lys538Met) c.1736A>T (p.Lys579Met) c.1808A>T (p.Lys603Met) c.1892A>T (p.Lys631Met) c.1730A>T (p.Lys577Met) c.1517A>T (p.Lys506Met) c.1694A>T (p.Lys565Met) c.1033A>T (n.1033A>T) c.1634A>T (p.Lys545Met) c.1166A>T (n.1166A>T) c.1449A>T (n.1449A>T) c.1131A>T (n.1131A>T) c.1712A>T (p.Lys571Met) c.992A>T (n.992A>T) c.1820A>T (p.Lys607Met) c.1142A>T (p.Lys381Met) c.1727A>T (p.Lys576Met) c.1596A>T (n.1596A>T) c.404A>T (p.Lys135Met) c.977A>T (p.Lys326Met) c.1655A>T (p.Lys552Met) c.1778A>T (p.Lys593Met) c.1052A>T (p.Lys351Met) c.1658A>T (p.Lys553Met) n.2423+2436T>A n.2017A>T
10	g.18539634G>A	CA203167454	CACNB2,NSUN6	c.1749G>A (p.Lys583=) c.1614G>A (p.Lys538=) c.1737G>A (p.Lys579=) c.1809G>A (p.Lys603=) c.1893G>A (p.Lys631=) c.1731G>A (p.Lys577=) c.1518G>A (p.Lys506=) c.1695G>A (p.Lys565=) c.1034G>A (n.1034G>A) c.1635G>A (p.Lys545=) c.1167G>A (n.1167G>A) c.1450G>A (n.1450G>A) c.1132G>A (n.1132G>A) c.1713G>A (p.Lys571=) c.993G>A (n.993G>A) c.1821G>A (p.Lys607=) c.1143G>A (p.Lys381=) c.1728G>A (p.Lys576=) c.1597G>A (n.1597G>A) c.405G>A (p.Lys135=) c.978G>A (p.Lys326=) c.1656G>A (p.Lys552=) c.1779G>A (p.Lys593=) c.1053G>A (p.Lys351=) c.1659G>A (p.Lys553=) n.2423+2435C>T n.2018G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10	g.18539634G>C	CA5430197	CACNB2,NSUN6	c.1749G>C (p.Lys583Asn) c.1614G>C (p.Lys538Asn) c.1737G>C (p.Lys579Asn) c.1809G>C (p.Lys603Asn) c.1893G>C (p.Lys631Asn) c.1731G>C (p.Lys577Asn) c.1518G>C (p.Lys506Asn) c.1695G>C (p.Lys565Asn) c.1034G>C (n.1034G>C) c.1635G>C (p.Lys545Asn) c.1167G>C (n.1167G>C) c.1450G>C (n.1450G>C) c.1132G>C (n.1132G>C) c.1713G>C (p.Lys571Asn) c.993G>C (n.993G>C) c.1821G>C (p.Lys607Asn) c.1143G>C (p.Lys381Asn) c.1728G>C (p.Lys576Asn) c.1597G>C (n.1597G>C) c.405G>C (p.Lys135Asn) c.978G>C (p.Lys326Asn) c.1656G>C (p.Lys552Asn) c.1779G>C (p.Lys593Asn) c.1053G>C (p.Lys351Asn) c.1659G>C (p.Lys553Asn) n.2423+2435C>G n.2018G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539634G=	CA1894174152	CACNB2,NSUN6	c.1749G= (p.Lys583=) c.1614G= (p.Lys538=) c.1737G= (p.Lys579=) c.1809G= (p.Lys603=) c.1893G= (p.Lys631=) c.1731G= (p.Lys577=) c.1518G= (p.Lys506=) c.1695G= (p.Lys565=) c.1034G= (n.1034G=) c.1635G= (p.Lys545=) c.1167G= (n.1167G=) c.1450G= (n.1450G=) c.1132G= (n.1132G=) c.1713G= (p.Lys571=) c.993G= (n.993G=) c.1821G= (p.Lys607=) c.1143G= (p.Lys381=) c.1728G= (p.Lys576=) c.1597G= (n.1597G=) c.405G= (p.Lys135=) c.978G= (p.Lys326=) c.1656G= (p.Lys552=) c.1779G= (p.Lys593=) c.1053G= (p.Lys351=) c.1659G= (p.Lys553=) n.2423+2435C= n.2018G=
10	g.18539634G>T	CA376072767	CACNB2,NSUN6	c.1749G>T (p.Lys583Asn) c.1614G>T (p.Lys538Asn) c.1737G>T (p.Lys579Asn) c.1809G>T (p.Lys603Asn) c.1893G>T (p.Lys631Asn) c.1731G>T (p.Lys577Asn) c.1518G>T (p.Lys506Asn) c.1695G>T (p.Lys565Asn) c.1034G>T (n.1034G>T) c.1635G>T (p.Lys545Asn) c.1167G>T (n.1167G>T) c.1450G>T (n.1450G>T) c.1132G>T (n.1132G>T) c.1713G>T (p.Lys571Asn) c.993G>T (n.993G>T) c.1821G>T (p.Lys607Asn) c.1143G>T (p.Lys381Asn) c.1728G>T (p.Lys576Asn) c.1597G>T (n.1597G>T) c.405G>T (p.Lys135Asn) c.978G>T (p.Lys326Asn) c.1656G>T (p.Lys552Asn) c.1779G>T (p.Lys593Asn) c.1053G>T (p.Lys351Asn) c.1659G>T (p.Lys553Asn) n.2423+2435C>A n.2018G>T
10	g.18539635G>A	CA376072768	CACNB2,NSUN6	c.1750G>A (p.Asp584Asn) c.1615G>A (p.Asp539Asn) c.1738G>A (p.Asp580Asn) c.1810G>A (p.Asp604Asn) c.1894G>A (p.Asp632Asn) c.1732G>A (p.Asp578Asn) c.1519G>A (p.Asp507Asn) c.1696G>A (p.Asp566Asn) c.1035G>A (n.1035G>A) c.1636G>A (p.Asp546Asn) c.1168G>A (n.1168G>A) c.1451G>A (n.1451G>A) c.1133G>A (n.1133G>A) c.1714G>A (p.Asp572Asn) c.994G>A (n.994G>A) c.1822G>A (p.Asp608Asn) c.1144G>A (p.Asp382Asn) c.1729G>A (p.Asp577Asn) c.1598G>A (n.1598G>A) c.406G>A (p.Asp136Asn) c.979G>A (p.Asp327Asn) c.1657G>A (p.Asp553Asn) c.1780G>A (p.Asp594Asn) c.1054G>A (p.Asp352Asn) c.1660G>A (p.Asp554Asn) n.2423+2434C>T n.2019G>A	gnomAD v4
10	g.18539635G>C	CA376072770	CACNB2,NSUN6	c.1750G>C (p.Asp584His) c.1615G>C (p.Asp539His) c.1738G>C (p.Asp580His) c.1810G>C (p.Asp604His) c.1894G>C (p.Asp632His) c.1732G>C (p.Asp578His) c.1519G>C (p.Asp507His) c.1696G>C (p.Asp566His) c.1035G>C (n.1035G>C) c.1636G>C (p.Asp546His) c.1168G>C (n.1168G>C) c.1451G>C (n.1451G>C) c.1133G>C (n.1133G>C) c.1714G>C (p.Asp572His) c.994G>C (n.994G>C) c.1822G>C (p.Asp608His) c.1144G>C (p.Asp382His) c.1729G>C (p.Asp577His) c.1598G>C (n.1598G>C) c.406G>C (p.Asp136His) c.979G>C (p.Asp327His) c.1657G>C (p.Asp553His) c.1780G>C (p.Asp594His) c.1054G>C (p.Asp352His) c.1660G>C (p.Asp554His) n.2423+2434C>G n.2019G>C
10	g.18539635G=	CA1894174158	CACNB2,NSUN6	c.1750G= (p.Asp584=) c.1615G= (p.Asp539=) c.1738G= (p.Asp580=) c.1810G= (p.Asp604=) c.1894G= (p.Asp632=) c.1732G= (p.Asp578=) c.1519G= (p.Asp507=) c.1696G= (p.Asp566=) c.1035G= (n.1035G=) c.1636G= (p.Asp546=) c.1168G= (n.1168G=) c.1451G= (n.1451G=) c.1133G= (n.1133G=) c.1714G= (p.Asp572=) c.994G= (n.994G=) c.1822G= (p.Asp608=) c.1144G= (p.Asp382=) c.1729G= (p.Asp577=) c.1598G= (n.1598G=) c.406G= (p.Asp136=) c.979G= (p.Asp327=) c.1657G= (p.Asp553=) c.1780G= (p.Asp594=) c.1054G= (p.Asp352=) c.1660G= (p.Asp554=) n.2423+2434C= n.2019G=
10	g.18539635G>T	CA376072769	CACNB2,NSUN6	c.1750G>T (p.Asp584Tyr) c.1615G>T (p.Asp539Tyr) c.1738G>T (p.Asp580Tyr) c.1810G>T (p.Asp604Tyr) c.1894G>T (p.Asp632Tyr) c.1732G>T (p.Asp578Tyr) c.1519G>T (p.Asp507Tyr) c.1696G>T (p.Asp566Tyr) c.1035G>T (n.1035G>T) c.1636G>T (p.Asp546Tyr) c.1168G>T (n.1168G>T) c.1451G>T (n.1451G>T) c.1133G>T (n.1133G>T) c.1714G>T (p.Asp572Tyr) c.994G>T (n.994G>T) c.1822G>T (p.Asp608Tyr) c.1144G>T (p.Asp382Tyr) c.1729G>T (p.Asp577Tyr) c.1598G>T (n.1598G>T) c.406G>T (p.Asp136Tyr) c.979G>T (p.Asp327Tyr) c.1657G>T (p.Asp553Tyr) c.1780G>T (p.Asp594Tyr) c.1054G>T (p.Asp352Tyr) c.1660G>T (p.Asp554Tyr) n.2423+2434C>A n.2019G>T	dbSNP gnomAD v2 gnomAD v4
10	g.18539636A=	CA1894174162	CACNB2,NSUN6	c.1751A= (p.Asp584=) c.1616A= (p.Asp539=) c.1739A= (p.Asp580=) c.1811A= (p.Asp604=) c.1895A= (p.Asp632=) c.1733A= (p.Asp578=) c.1520A= (p.Asp507=) c.1697A= (p.Asp566=) c.1036A= (n.1036A=) c.1637A= (p.Asp546=) c.1169A= (n.1169A=) c.1452A= (n.1452A=) c.1134A= (n.1134A=) c.1715A= (p.Asp572=) c.995A= (n.995A=) c.1823A= (p.Asp608=) c.1145A= (p.Asp382=) c.1730A= (p.Asp577=) c.1599A= (n.1599A=) c.407A= (p.Asp136=) c.980A= (p.Asp327=) c.1658A= (p.Asp553=) c.1781A= (p.Asp594=) c.1055A= (p.Asp352=) c.1661A= (p.Asp554=) n.2423+2433T= n.2020A=
10	g.18539636A>C	CA5430198	CACNB2,NSUN6	c.1751A>C (p.Asp584Ala) c.1616A>C (p.Asp539Ala) c.1739A>C (p.Asp580Ala) c.1811A>C (p.Asp604Ala) c.1895A>C (p.Asp632Ala) c.1733A>C (p.Asp578Ala) c.1520A>C (p.Asp507Ala) c.1697A>C (p.Asp566Ala) c.1036A>C (n.1036A>C) c.1637A>C (p.Asp546Ala) c.1169A>C (n.1169A>C) c.1452A>C (n.1452A>C) c.1134A>C (n.1134A>C) c.1715A>C (p.Asp572Ala) c.995A>C (n.995A>C) c.1823A>C (p.Asp608Ala) c.1145A>C (p.Asp382Ala) c.1730A>C (p.Asp577Ala) c.1599A>C (n.1599A>C) c.407A>C (p.Asp136Ala) c.980A>C (p.Asp327Ala) c.1658A>C (p.Asp553Ala) c.1781A>C (p.Asp594Ala) c.1055A>C (p.Asp352Ala) c.1661A>C (p.Asp554Ala) n.2423+2433T>G n.2020A>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539636A>G	CA376072771	CACNB2,NSUN6	c.1751A>G (p.Asp584Gly) c.1616A>G (p.Asp539Gly) c.1739A>G (p.Asp580Gly) c.1811A>G (p.Asp604Gly) c.1895A>G (p.Asp632Gly) c.1733A>G (p.Asp578Gly) c.1520A>G (p.Asp507Gly) c.1697A>G (p.Asp566Gly) c.1036A>G (n.1036A>G) c.1637A>G (p.Asp546Gly) c.1169A>G (n.1169A>G) c.1452A>G (n.1452A>G) c.1134A>G (n.1134A>G) c.1715A>G (p.Asp572Gly) c.995A>G (n.995A>G) c.1823A>G (p.Asp608Gly) c.1145A>G (p.Asp382Gly) c.1730A>G (p.Asp577Gly) c.1599A>G (n.1599A>G) c.407A>G (p.Asp136Gly) c.980A>G (p.Asp327Gly) c.1658A>G (p.Asp553Gly) c.1781A>G (p.Asp594Gly) c.1055A>G (p.Asp352Gly) c.1661A>G (p.Asp554Gly) n.2423+2433T>C n.2020A>G	dbSNP gnomAD v2 gnomAD v4
10	g.18539636A>T	CA203167462	CACNB2,NSUN6	c.1751A>T (p.Asp584Val) c.1616A>T (p.Asp539Val) c.1739A>T (p.Asp580Val) c.1811A>T (p.Asp604Val) c.1895A>T (p.Asp632Val) c.1733A>T (p.Asp578Val) c.1520A>T (p.Asp507Val) c.1697A>T (p.Asp566Val) c.1036A>T (n.1036A>T) c.1637A>T (p.Asp546Val) c.1169A>T (n.1169A>T) c.1452A>T (n.1452A>T) c.1134A>T (n.1134A>T) c.1715A>T (p.Asp572Val) c.995A>T (n.995A>T) c.1823A>T (p.Asp608Val) c.1145A>T (p.Asp382Val) c.1730A>T (p.Asp577Val) c.1599A>T (n.1599A>T) c.407A>T (p.Asp136Val) c.980A>T (p.Asp327Val) c.1658A>T (p.Asp553Val) c.1781A>T (p.Asp594Val) c.1055A>T (p.Asp352Val) c.1661A>T (p.Asp554Val) n.2423+2433T>A n.2020A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539637T>A	CA376072772	CACNB2,NSUN6	c.1752T>A (p.Asp584Glu) c.1617T>A (p.Asp539Glu) c.1740T>A (p.Asp580Glu) c.1812T>A (p.Asp604Glu) c.1896T>A (p.Asp632Glu) c.1734T>A (p.Asp578Glu) c.1521T>A (p.Asp507Glu) c.1698T>A (p.Asp566Glu) c.1037T>A (n.1037T>A) c.1638T>A (p.Asp546Glu) c.1170T>A (n.1170T>A) c.1453T>A (n.1453T>A) c.1135T>A (n.1135T>A) c.1716T>A (p.Asp572Glu) c.996T>A (n.996T>A) c.1824T>A (p.Asp608Glu) c.1146T>A (p.Asp382Glu) c.1731T>A (p.Asp577Glu) c.1600T>A (n.1600T>A) c.408T>A (p.Asp136Glu) c.981T>A (p.Asp327Glu) c.1659T>A (p.Asp553Glu) c.1782T>A (p.Asp594Glu) c.1056T>A (p.Asp352Glu) c.1662T>A (p.Asp554Glu) n.2423+2432A>T n.2021T>A
10	g.18539637T>C	CA468649725	CACNB2,NSUN6	c.1752T>C (p.Asp584=) c.1617T>C (p.Asp539=) c.1740T>C (p.Asp580=) c.1812T>C (p.Asp604=) c.1896T>C (p.Asp632=) c.1734T>C (p.Asp578=) c.1521T>C (p.Asp507=) c.1698T>C (p.Asp566=) c.1037T>C (n.1037T>C) c.1638T>C (p.Asp546=) c.1170T>C (n.1170T>C) c.1453T>C (n.1453T>C) c.1135T>C (n.1135T>C) c.1716T>C (p.Asp572=) c.996T>C (n.996T>C) c.1824T>C (p.Asp608=) c.1146T>C (p.Asp382=) c.1731T>C (p.Asp577=) c.1600T>C (n.1600T>C) c.408T>C (p.Asp136=) c.981T>C (p.Asp327=) c.1659T>C (p.Asp553=) c.1782T>C (p.Asp594=) c.1056T>C (p.Asp352=) c.1662T>C (p.Asp554=) n.2423+2432A>G n.2021T>C
10	g.18539637T>G	CA376072773	CACNB2,NSUN6	c.1752T>G (p.Asp584Glu) c.1617T>G (p.Asp539Glu) c.1740T>G (p.Asp580Glu) c.1812T>G (p.Asp604Glu) c.1896T>G (p.Asp632Glu) c.1734T>G (p.Asp578Glu) c.1521T>G (p.Asp507Glu) c.1698T>G (p.Asp566Glu) c.1037T>G (n.1037T>G) c.1638T>G (p.Asp546Glu) c.1170T>G (n.1170T>G) c.1453T>G (n.1453T>G) c.1135T>G (n.1135T>G) c.1716T>G (p.Asp572Glu) c.996T>G (n.996T>G) c.1824T>G (p.Asp608Glu) c.1146T>G (p.Asp382Glu) c.1731T>G (p.Asp577Glu) c.1600T>G (n.1600T>G) c.408T>G (p.Asp136Glu) c.981T>G (p.Asp327Glu) c.1659T>G (p.Asp553Glu) c.1782T>G (p.Asp594Glu) c.1056T>G (p.Asp352Glu) c.1662T>G (p.Asp554Glu) n.2423+2432A>C n.2021T>G
10	g.18539638del	CA2528516686	CACNB2,NSUN6	c.1753del (p.Arg585AlafsTer9) c.1618del (p.Arg540AlafsTer9) c.1741del (p.Arg581AlafsTer9) c.1813del (p.Arg605AlafsTer9) c.1897del (p.Arg633AlafsTer9) c.1735del (p.Arg579AlafsTer9) c.1522del (p.Arg508AlafsTer9) c.1699del (p.Arg567AlafsTer9) c.1038del (n.1038del) c.1639del (p.Arg547AlafsTer9) c.1171del (n.1171del) c.1454del (n.1454del) c.1136del (n.1136del) c.1717del (p.Arg573AlafsTer9) c.997del (n.997del) c.1825del (p.Arg609AlafsTer9) c.1147del (p.Arg383AlafsTer9) c.1732del (p.Arg578AlafsTer9) c.1601del (n.1601del) c.409del (p.Arg137AlafsTer9) c.982del (p.Arg328AlafsTer9) c.1660del (p.Arg554AlafsTer9) c.1783del (p.Arg595AlafsTer9) c.1057del (p.Arg353AlafsTer9) c.1663del (p.Arg555AlafsTer9) n.2423+2431del n.2022del
10	g.18539638C>A	CA5430200	CACNB2,NSUN6	c.1753C>A (p.Arg585Ser) c.1618C>A (p.Arg540Ser) c.1741C>A (p.Arg581Ser) c.1813C>A (p.Arg605Ser) c.1897C>A (p.Arg633Ser) c.1735C>A (p.Arg579Ser) c.1522C>A (p.Arg508Ser) c.1699C>A (p.Arg567Ser) c.1038C>A (n.1038C>A) c.1639C>A (p.Arg547Ser) c.1171C>A (n.1171C>A) c.1454C>A (n.1454C>A) c.1136C>A (n.1136C>A) c.1717C>A (p.Arg573Ser) c.997C>A (n.997C>A) c.1825C>A (p.Arg609Ser) c.1147C>A (p.Arg383Ser) c.1732C>A (p.Arg578Ser) c.1601C>A (n.1601C>A) c.409C>A (p.Arg137Ser) c.982C>A (p.Arg328Ser) c.1660C>A (p.Arg554Ser) c.1783C>A (p.Arg595Ser) c.1057C>A (p.Arg353Ser) c.1663C>A (p.Arg555Ser) n.2423+2431G>T n.2022C>A	dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539638C=	CA1894174166	CACNB2,NSUN6	c.1753C= (p.Arg585=) c.1618C= (p.Arg540=) c.1741C= (p.Arg581=) c.1813C= (p.Arg605=) c.1897C= (p.Arg633=) c.1735C= (p.Arg579=) c.1522C= (p.Arg508=) c.1699C= (p.Arg567=) c.1038C= (n.1038C=) c.1639C= (p.Arg547=) c.1171C= (n.1171C=) c.1454C= (n.1454C=) c.1136C= (n.1136C=) c.1717C= (p.Arg573=) c.997C= (n.997C=) c.1825C= (p.Arg609=) c.1147C= (p.Arg383=) c.1732C= (p.Arg578=) c.1601C= (n.1601C=) c.409C= (p.Arg137=) c.982C= (p.Arg328=) c.1660C= (p.Arg554=) c.1783C= (p.Arg595=) c.1057C= (p.Arg353=) c.1663C= (p.Arg555=) n.2423+2431G= n.2022C=
10	g.18539638C>G	CA376072774	CACNB2,NSUN6	c.1753C>G (p.Arg585Gly) c.1618C>G (p.Arg540Gly) c.1741C>G (p.Arg581Gly) c.1813C>G (p.Arg605Gly) c.1897C>G (p.Arg633Gly) c.1735C>G (p.Arg579Gly) c.1522C>G (p.Arg508Gly) c.1699C>G (p.Arg567Gly) c.1038C>G (n.1038C>G) c.1639C>G (p.Arg547Gly) c.1171C>G (n.1171C>G) c.1454C>G (n.1454C>G) c.1136C>G (n.1136C>G) c.1717C>G (p.Arg573Gly) c.997C>G (n.997C>G) c.1825C>G (p.Arg609Gly) c.1147C>G (p.Arg383Gly) c.1732C>G (p.Arg578Gly) c.1601C>G (n.1601C>G) c.409C>G (p.Arg137Gly) c.982C>G (p.Arg328Gly) c.1660C>G (p.Arg554Gly) c.1783C>G (p.Arg595Gly) c.1057C>G (p.Arg353Gly) c.1663C>G (p.Arg555Gly) n.2423+2431G>C n.2022C>G
10	g.18539638C>T	CA5430199	CACNB2,NSUN6	c.1753C>T (p.Arg585Cys) c.1618C>T (p.Arg540Cys) c.1741C>T (p.Arg581Cys) c.1813C>T (p.Arg605Cys) c.1897C>T (p.Arg633Cys) c.1735C>T (p.Arg579Cys) c.1522C>T (p.Arg508Cys) c.1699C>T (p.Arg567Cys) c.1038C>T (n.1038C>T) c.1639C>T (p.Arg547Cys) c.1171C>T (n.1171C>T) c.1454C>T (n.1454C>T) c.1136C>T (n.1136C>T) c.1717C>T (p.Arg573Cys) c.997C>T (n.997C>T) c.1825C>T (p.Arg609Cys) c.1147C>T (p.Arg383Cys) c.1732C>T (p.Arg578Cys) c.1601C>T (n.1601C>T) c.409C>T (p.Arg137Cys) c.982C>T (p.Arg328Cys) c.1660C>T (p.Arg554Cys) c.1783C>T (p.Arg595Cys) c.1057C>T (p.Arg353Cys) c.1663C>T (p.Arg555Cys) n.2423+2431G>A n.2022C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10	g.18539639G>A	CA5430201	CACNB2,NSUN6	c.1754G>A (p.Arg585His) c.1619G>A (p.Arg540His) c.1742G>A (p.Arg581His) c.1814G>A (p.Arg605His) c.1898G>A (p.Arg633His) c.1736G>A (p.Arg579His) c.1523G>A (p.Arg508His) c.1700G>A (p.Arg567His) c.1039G>A (n.1039G>A) c.1640G>A (p.Arg547His) c.1172G>A (n.1172G>A) c.1455G>A (n.1455G>A) c.1137G>A (n.1137G>A) c.1718G>A (p.Arg573His) c.998G>A (n.998G>A) c.1826G>A (p.Arg609His) c.1148G>A (p.Arg383His) c.1733G>A (p.Arg578His) c.1602G>A (n.1602G>A) c.410G>A (p.Arg137His) c.983G>A (p.Arg328His) c.1661G>A (p.Arg554His) c.1784G>A (p.Arg595His) c.1058G>A (p.Arg353His) c.1664G>A (p.Arg555His) n.2423+2430C>T n.2023G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10	g.18539639G>C	CA203167471	CACNB2,NSUN6	c.1754G>C (p.Arg585Pro) c.1619G>C (p.Arg540Pro) c.1742G>C (p.Arg581Pro) c.1814G>C (p.Arg605Pro) c.1898G>C (p.Arg633Pro) c.1736G>C (p.Arg579Pro) c.1523G>C (p.Arg508Pro) c.1700G>C (p.Arg567Pro) c.1039G>C (n.1039G>C) c.1640G>C (p.Arg547Pro) c.1172G>C (n.1172G>C) c.1455G>C (n.1455G>C) c.1137G>C (n.1137G>C) c.1718G>C (p.Arg573Pro) c.998G>C (n.998G>C) c.1826G>C (p.Arg609Pro) c.1148G>C (p.Arg383Pro) c.1733G>C (p.Arg578Pro) c.1602G>C (n.1602G>C) c.410G>C (p.Arg137Pro) c.983G>C (p.Arg328Pro) c.1661G>C (p.Arg554Pro) c.1784G>C (p.Arg595Pro) c.1058G>C (p.Arg353Pro) c.1664G>C (p.Arg555Pro) n.2423+2430C>G n.2023G>C	dbSNP
10	g.18539639G=	CA1894174171	CACNB2,NSUN6	c.1754G= (p.Arg585=) c.1619G= (p.Arg540=) c.1742G= (p.Arg581=) c.1814G= (p.Arg605=) c.1898G= (p.Arg633=) c.1736G= (p.Arg579=) c.1523G= (p.Arg508=) c.1700G= (p.Arg567=) c.1039G= (n.1039G=) c.1640G= (p.Arg547=) c.1172G= (n.1172G=) c.1455G= (n.1455G=) c.1137G= (n.1137G=) c.1718G= (p.Arg573=) c.998G= (n.998G=) c.1826G= (p.Arg609=) c.1148G= (p.Arg383=) c.1733G= (p.Arg578=) c.1602G= (n.1602G=) c.410G= (p.Arg137=) c.983G= (p.Arg328=) c.1661G= (p.Arg554=) c.1784G= (p.Arg595=) c.1058G= (p.Arg353=) c.1664G= (p.Arg555=) n.2423+2430C= n.2023G=
10	g.18539639G>T	CA376072775	CACNB2,NSUN6	c.1754G>T (p.Arg585Leu) c.1619G>T (p.Arg540Leu) c.1742G>T (p.Arg581Leu) c.1814G>T (p.Arg605Leu) c.1898G>T (p.Arg633Leu) c.1736G>T (p.Arg579Leu) c.1523G>T (p.Arg508Leu) c.1700G>T (p.Arg567Leu) c.1039G>T (n.1039G>T) c.1640G>T (p.Arg547Leu) c.1172G>T (n.1172G>T) c.1455G>T (n.1455G>T) c.1137G>T (n.1137G>T) c.1718G>T (p.Arg573Leu) c.998G>T (n.998G>T) c.1826G>T (p.Arg609Leu) c.1148G>T (p.Arg383Leu) c.1733G>T (p.Arg578Leu) c.1602G>T (n.1602G>T) c.410G>T (p.Arg137Leu) c.983G>T (p.Arg328Leu) c.1661G>T (p.Arg554Leu) c.1784G>T (p.Arg595Leu) c.1058G>T (p.Arg353Leu) c.1664G>T (p.Arg555Leu) n.2423+2430C>A n.2023G>T
10	g.18539640C>A	CA468649731	CACNB2,NSUN6	c.1755C>A (p.Arg585=) c.1620C>A (p.Arg540=) c.1743C>A (p.Arg581=) c.1815C>A (p.Arg605=) c.1899C>A (p.Arg633=) c.1737C>A (p.Arg579=) c.1524C>A (p.Arg508=) c.1701C>A (p.Arg567=) c.1040C>A (n.1040C>A) c.1641C>A (p.Arg547=) c.1173C>A (n.1173C>A) c.1456C>A (n.1456C>A) c.1138C>A (n.1138C>A) c.1719C>A (p.Arg573=) c.999C>A (n.999C>A) c.1827C>A (p.Arg609=) c.1149C>A (p.Arg383=) c.1734C>A (p.Arg578=) c.1603C>A (n.1603C>A) c.411C>A (p.Arg137=) c.984C>A (p.Arg328=) c.1662C>A (p.Arg554=) c.1785C>A (p.Arg595=) c.1059C>A (p.Arg353=) c.1665C>A (p.Arg555=) n.2423+2429G>T n.2024C>A	ClinVar dbSNP
10	g.18539640C=	CA1894174179	CACNB2,NSUN6	c.1755C= (p.Arg585=) c.1620C= (p.Arg540=) c.1743C= (p.Arg581=) c.1815C= (p.Arg605=) c.1899C= (p.Arg633=) c.1737C= (p.Arg579=) c.1524C= (p.Arg508=) c.1701C= (p.Arg567=) c.1040C= (n.1040C=) c.1641C= (p.Arg547=) c.1173C= (n.1173C=) c.1456C= (n.1456C=) c.1138C= (n.1138C=) c.1719C= (p.Arg573=) c.999C= (n.999C=) c.1827C= (p.Arg609=) c.1149C= (p.Arg383=) c.1734C= (p.Arg578=) c.1603C= (n.1603C=) c.411C= (p.Arg137=) c.984C= (p.Arg328=) c.1662C= (p.Arg554=) c.1785C= (p.Arg595=) c.1059C= (p.Arg353=) c.1665C= (p.Arg555=) n.2423+2429G= n.2024C=
10	g.18539640C>G	CA468649730	CACNB2,NSUN6	c.1755C>G (p.Arg585=) c.1620C>G (p.Arg540=) c.1743C>G (p.Arg581=) c.1815C>G (p.Arg605=) c.1899C>G (p.Arg633=) c.1737C>G (p.Arg579=) c.1524C>G (p.Arg508=) c.1701C>G (p.Arg567=) c.1040C>G (n.1040C>G) c.1641C>G (p.Arg547=) c.1173C>G (n.1173C>G) c.1456C>G (n.1456C>G) c.1138C>G (n.1138C>G) c.1719C>G (p.Arg573=) c.999C>G (n.999C>G) c.1827C>G (p.Arg609=) c.1149C>G (p.Arg383=) c.1734C>G (p.Arg578=) c.1603C>G (n.1603C>G) c.411C>G (p.Arg137=) c.984C>G (p.Arg328=) c.1662C>G (p.Arg554=) c.1785C>G (p.Arg595=) c.1059C>G (p.Arg353=) c.1665C>G (p.Arg555=) n.2423+2429G>C n.2024C>G
10	g.18539640C>T	CA468649729	CACNB2,NSUN6	c.1755C>T (p.Arg585=) c.1620C>T (p.Arg540=) c.1743C>T (p.Arg581=) c.1815C>T (p.Arg605=) c.1899C>T (p.Arg633=) c.1737C>T (p.Arg579=) c.1524C>T (p.Arg508=) c.1701C>T (p.Arg567=) c.1040C>T (n.1040C>T) c.1641C>T (p.Arg547=) c.1173C>T (n.1173C>T) c.1456C>T (n.1456C>T) c.1138C>T (n.1138C>T) c.1719C>T (p.Arg573=) c.999C>T (n.999C>T) c.1827C>T (p.Arg609=) c.1149C>T (p.Arg383=) c.1734C>T (p.Arg578=) c.1603C>T (n.1603C>T) c.411C>T (p.Arg137=) c.984C>T (p.Arg328=) c.1662C>T (p.Arg554=) c.1785C>T (p.Arg595=) c.1059C>T (p.Arg353=) c.1665C>T (p.Arg555=) n.2423+2429G>A n.2024C>T	gnomAD v4

Number of alleles fetched