Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.18539465_18539495delinsCCCATGACCACGTGGACCACTATGCCTCACACA1894173486CACNB2,NSUN6c.1580_1610delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser527=)
c.1445_1475delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser482=)
c.1568_1598delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser523=)
c.1640_1670delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser547=)
c.1724_1754delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser575=)
c.1562_1592delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser521=)
c.1349_1379delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser450=)
c.1526_1556delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser509=)
c.*865_*895delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.*865_*895delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.1466_1496delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser489=)
c.*998_*1028delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.*998_*1028delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.1281_1311delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.1281_1311delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.*963_*993delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.*963_*993delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.1544_1574delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser515=)
c.*824_*854delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.*824_*854delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.1652_1682delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser551=)
c.974_1004delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser325=)
c.1559_1589delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser520=)
c.1428_1458delinsCCCATGACCACGTGGACCACTATGCCTCACA (n.1428_1458delinsCCCATGACCACGTGGACCACTATGCCTCACA)
c.236_266delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser79=)
c.809_839delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser270=)
c.1487_1517delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser496=)
c.1610_1640delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser537=)
c.884_914delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser295=)
c.1490_1520delinsCCCATGACCACGTGGACCACTATGCCTCACA (p.Ser497=)
n.2423+2574_2423+2604delinsTGTGAGGCATAGTGGTCCACGTGGTCATGGG
n.1849_1879delinsCCCATGACCACGTGGACCACTATGCCTCACA
10g.18539468_18539497delCA592060484CACNB2,NSUN6c.1583_1612del (p.His528_His537del)
c.1448_1477del (p.His483_His492del)
c.1571_1600del (p.His524_His533del)
c.1643_1672del (p.His548_His557del)
c.1727_1756del (p.His576_His585del)
c.1565_1594del (p.His522_His531del)
c.1352_1381del (p.His451_His460del)
c.1529_1558del (p.His510_His519del)
c.*868_*897del (n.*868_*897del)
c.1469_1498del (p.His490_His499del)
c.*1001_*1030del (n.*1001_*1030del)
c.1284_1313del (n.1284_1313del)
c.*966_*995del (n.*966_*995del)
c.1547_1576del (p.His516_His525del)
c.*827_*856del (n.*827_*856del)
c.1655_1684del (p.His552_His561del)
c.977_1006del (p.His326_His335del)
c.1562_1591del (p.His521_His530del)
c.1431_1460del (n.1431_1460del)
c.239_268del (p.His80_His89del)
c.812_841del (p.His271_His280del)
c.1490_1519del (p.His497_His506del)
c.1613_1642del (p.His538_His547del)
c.887_916del (p.His296_His305del)
c.1493_1522del (p.His498_His507del)
n.2423+2574_2423+2603del
n.1852_1881del
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539468_18539498delinsATGACCACGTGGACCACTATGCCTCACACCGCA1894173499CACNB2,NSUN6c.1583_1613delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His528=)
c.1448_1478delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His483=)
c.1571_1601delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His524=)
c.1643_1673delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His548=)
c.1727_1757delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His576=)
c.1565_1595delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His522=)
c.1352_1382delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His451=)
c.1529_1559delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His510=)
c.*868_*898delinsATGACCACGTGGACCACTATGCCTCACACCG (n.*868_*898delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.1469_1499delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His490=)
c.*1001_*1031delinsATGACCACGTGGACCACTATGCCTCACACCG (n.*1001_*1031delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.1284_1314delinsATGACCACGTGGACCACTATGCCTCACACCG (n.1284_1314delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.*966_*996delinsATGACCACGTGGACCACTATGCCTCACACCG (n.*966_*996delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.1547_1577delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His516=)
c.*827_*857delinsATGACCACGTGGACCACTATGCCTCACACCG (n.*827_*857delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.1655_1685delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His552=)
c.977_1007delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His326=)
c.1562_1592delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His521=)
c.1431_1461delinsATGACCACGTGGACCACTATGCCTCACACCG (n.1431_1461delinsATGACCACGTGGACCACTATGCCTCACACCG)
c.239_269delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His80=)
c.812_842delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His271=)
c.1490_1520delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His497=)
c.1613_1643delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His538=)
c.887_917delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His296=)
c.1493_1523delinsATGACCACGTGGACCACTATGCCTCACACCG (p.His498=)
n.2423+2571_2423+2601delinsCGGTGTGAGGCATAGTGGTCCACGTGGTCAT
n.1852_1882delinsATGACCACGTGGACCACTATGCCTCACACCG
10g.18539476_18539505delCA592060485CACNB2,NSUN6c.1591_1620del (p.Val531_His540del)
c.1456_1485del (p.Val486_His495del)
c.1579_1608del (p.Val527_His536del)
c.1651_1680del (p.Val551_His560del)
c.1735_1764del (p.Val579_His588del)
c.1573_1602del (p.Val525_His534del)
c.1360_1389del (p.Val454_His463del)
c.1537_1566del (p.Val513_His522del)
c.*876_*905del (n.*876_*905del)
c.1477_1506del (p.Val493_His502del)
c.*1009_*1038del (n.*1009_*1038del)
c.1292_1321del (n.1292_1321del)
c.*974_*1003del (n.*974_*1003del)
c.1555_1584del (p.Val519_His528del)
c.*835_*864del (n.*835_*864del)
c.1663_1692del (p.Val555_His564del)
c.985_1014del (p.Val329_His338del)
c.1570_1599del (p.Val524_His533del)
c.1439_1468del (n.1439_1468del)
c.247_276del (p.Val83_His92del)
c.820_849del (p.Val274_His283del)
c.1498_1527del (p.Val500_His509del)
c.1621_1650del (p.Val541_His550del)
c.895_924del (p.Val299_His308del)
c.1501_1530del (p.Val501_His510del)
n.2423+2571_2423+2600del
n.1860_1889del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539481_18539579delCA592060486CACNB2,NSUN6c.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
10g.18539478_18539499delinsGGACCACTATGCCTCACACCGTCA1894173532CACNB2,NSUN6c.1593_1614delinsGGACCACTATGCCTCACACCGT (p.Val531=)
c.1458_1479delinsGGACCACTATGCCTCACACCGT (p.Val486=)
c.1581_1602delinsGGACCACTATGCCTCACACCGT (p.Val527=)
c.1653_1674delinsGGACCACTATGCCTCACACCGT (p.Val551=)
c.1737_1758delinsGGACCACTATGCCTCACACCGT (p.Val579=)
c.1575_1596delinsGGACCACTATGCCTCACACCGT (p.Val525=)
c.1362_1383delinsGGACCACTATGCCTCACACCGT (p.Val454=)
c.1539_1560delinsGGACCACTATGCCTCACACCGT (p.Val513=)
c.*878_*899delinsGGACCACTATGCCTCACACCGT (n.*878_*899delinsGGACCACTATGCCTCACACCGT)
c.1479_1500delinsGGACCACTATGCCTCACACCGT (p.Val493=)
c.*1011_*1032delinsGGACCACTATGCCTCACACCGT (n.*1011_*1032delinsGGACCACTATGCCTCACACCGT)
c.1294_1315delinsGGACCACTATGCCTCACACCGT (n.1294_1315delinsGGACCACTATGCCTCACACCGT)
c.*976_*997delinsGGACCACTATGCCTCACACCGT (n.*976_*997delinsGGACCACTATGCCTCACACCGT)
c.1557_1578delinsGGACCACTATGCCTCACACCGT (p.Val519=)
c.*837_*858delinsGGACCACTATGCCTCACACCGT (n.*837_*858delinsGGACCACTATGCCTCACACCGT)
c.1665_1686delinsGGACCACTATGCCTCACACCGT (p.Val555=)
c.987_1008delinsGGACCACTATGCCTCACACCGT (p.Val329=)
c.1572_1593delinsGGACCACTATGCCTCACACCGT (p.Val524=)
c.1441_1462delinsGGACCACTATGCCTCACACCGT (n.1441_1462delinsGGACCACTATGCCTCACACCGT)
c.249_270delinsGGACCACTATGCCTCACACCGT (p.Val83=)
c.822_843delinsGGACCACTATGCCTCACACCGT (p.Val274=)
c.1500_1521delinsGGACCACTATGCCTCACACCGT (p.Val500=)
c.1623_1644delinsGGACCACTATGCCTCACACCGT (p.Val541=)
c.897_918delinsGGACCACTATGCCTCACACCGT (p.Val299=)
c.1503_1524delinsGGACCACTATGCCTCACACCGT (p.Val501=)
n.2423+2570_2423+2591delinsACGGTGTGAGGCATAGTGGTCC
n.1862_1883delinsGGACCACTATGCCTCACACCGT
10g.18539485_18539505delCA1139661404CACNB2,NSUN6c.1600_1620del (p.Tyr534_His540del)
c.1465_1485del (p.Tyr489_His495del)
c.1588_1608del (p.Tyr530_His536del)
c.1660_1680del (p.Tyr554_His560del)
c.1744_1764del (p.Tyr582_His588del)
c.1582_1602del (p.Tyr528_His534del)
c.1369_1389del (p.Tyr457_His463del)
c.1546_1566del (p.Tyr516_His522del)
c.*885_*905del (n.*885_*905del)
c.1486_1506del (p.Tyr496_His502del)
c.*1018_*1038del (n.*1018_*1038del)
c.1301_1321del (n.1301_1321del)
c.*983_*1003del (n.*983_*1003del)
c.1564_1584del (p.Tyr522_His528del)
c.*844_*864del (n.*844_*864del)
c.1672_1692del (p.Tyr558_His564del)
c.994_1014del (p.Tyr332_His338del)
c.1579_1599del (p.Tyr527_His533del)
c.1448_1468del (n.1448_1468del)
c.256_276del (p.Tyr86_His92del)
c.829_849del (p.Tyr277_His283del)
c.1507_1527del (p.Tyr503_His509del)
c.1630_1650del (p.Tyr544_His550del)
c.904_924del (p.Tyr302_His308del)
c.1510_1530del (p.Tyr504_His510del)
n.2423+2570_2423+2590del
n.1869_1889del
 ClinVar dbSNP
10g.18539489_18539509dupCA2608435626CACNB2,NSUN6c.1604_1624dup (p.Asn541_His542insProSerHisArgAspHisAsn)
c.1469_1489dup (p.Asn496_His497insProSerHisArgAspHisAsn)
c.1592_1612dup (p.Asn537_His538insProSerHisArgAspHisAsn)
c.1664_1684dup (p.Asn561_His562insProSerHisArgAspHisAsn)
c.1748_1768dup (p.Asn589_His590insProSerHisArgAspHisAsn)
c.1586_1606dup (p.Asn535_His536insProSerHisArgAspHisAsn)
c.1373_1393dup (p.Asn464_His465insProSerHisArgAspHisAsn)
c.1550_1570dup (p.Asn523_His524insProSerHisArgAspHisAsn)
c.*889_*909dup (n.*889_*909dup)
c.1490_1510dup (p.Asn503_His504insProSerHisArgAspHisAsn)
c.*1022_*1042dup (n.*1022_*1042dup)
c.1305_1325dup (n.1305_1325dup)
c.*987_*1007dup (n.*987_*1007dup)
c.1568_1588dup (p.Asn529_His530insProSerHisArgAspHisAsn)
c.*848_*868dup (n.*848_*868dup)
c.1676_1696dup (p.Asn565_His566insProSerHisArgAspHisAsn)
c.998_1018dup (p.Asn339_His340insProSerHisArgAspHisAsn)
c.1583_1603dup (p.Asn534_His535insProSerHisArgAspHisAsn)
c.1452_1472dup (n.1452_1472dup)
c.260_280dup (p.Asn93_His94insProSerHisArgAspHisAsn)
c.833_853dup (p.Asn284_His285insProSerHisArgAspHisAsn)
c.1511_1531dup (p.Asn510_His511insProSerHisArgAspHisAsn)
c.1634_1654dup (p.Asn551_His552insProSerHisArgAspHisAsn)
c.908_928dup (p.Asn309_His310insProSerHisArgAspHisAsn)
c.1514_1534dup (p.Asn511_His512insProSerHisArgAspHisAsn)
n.2423+2560_2423+2580dup
n.1873_1893dup
 gnomAD v4
10g.18539494C>ACA376072026CACNB2,NSUN6c.1609C>A (p.His537Asn)
c.1474C>A (p.His492Asn)
c.1597C>A (p.His533Asn)
c.1669C>A (p.His557Asn)
c.1753C>A (p.His585Asn)
c.1591C>A (p.His531Asn)
c.1378C>A (p.His460Asn)
c.1555C>A (p.His519Asn)
c.*894C>A (n.*894C>A)
c.1495C>A (p.His499Asn)
c.*1027C>A (n.*1027C>A)
c.1310C>A (n.1310C>A)
c.*992C>A (n.*992C>A)
c.1573C>A (p.His525Asn)
c.*853C>A (n.*853C>A)
c.1681C>A (p.His561Asn)
c.1003C>A (p.His335Asn)
c.1588C>A (p.His530Asn)
c.1457C>A (n.1457C>A)
c.265C>A (p.His89Asn)
c.838C>A (p.His280Asn)
c.1516C>A (p.His506Asn)
c.1639C>A (p.His547Asn)
c.913C>A (p.His305Asn)
c.1519C>A (p.His507Asn)
n.2423+2575G>T
n.1878C>A
10g.18539494C=CA1894173616CACNB2,NSUN6c.1609C= (p.His537=)
c.1474C= (p.His492=)
c.1597C= (p.His533=)
c.1669C= (p.His557=)
c.1753C= (p.His585=)
c.1591C= (p.His531=)
c.1378C= (p.His460=)
c.1555C= (p.His519=)
c.*894C= (n.*894C=)
c.1495C= (p.His499=)
c.*1027C= (n.*1027C=)
c.1310C= (n.1310C=)
c.*992C= (n.*992C=)
c.1573C= (p.His525=)
c.*853C= (n.*853C=)
c.1681C= (p.His561=)
c.1003C= (p.His335=)
c.1588C= (p.His530=)
c.1457C= (n.1457C=)
c.265C= (p.His89=)
c.838C= (p.His280=)
c.1516C= (p.His506=)
c.1639C= (p.His547=)
c.913C= (p.His305=)
c.1519C= (p.His507=)
n.2423+2575G=
n.1878C=
10g.18539494C>GCA5430158CACNB2,NSUN6c.1609C>G (p.His537Asp)
c.1474C>G (p.His492Asp)
c.1597C>G (p.His533Asp)
c.1669C>G (p.His557Asp)
c.1753C>G (p.His585Asp)
c.1591C>G (p.His531Asp)
c.1378C>G (p.His460Asp)
c.1555C>G (p.His519Asp)
c.*894C>G (n.*894C>G)
c.1495C>G (p.His499Asp)
c.*1027C>G (n.*1027C>G)
c.1310C>G (n.1310C>G)
c.*992C>G (n.*992C>G)
c.1573C>G (p.His525Asp)
c.*853C>G (n.*853C>G)
c.1681C>G (p.His561Asp)
c.1003C>G (p.His335Asp)
c.1588C>G (p.His530Asp)
c.1457C>G (n.1457C>G)
c.265C>G (p.His89Asp)
c.838C>G (p.His280Asp)
c.1516C>G (p.His506Asp)
c.1639C>G (p.His547Asp)
c.913C>G (p.His305Asp)
c.1519C>G (p.His507Asp)
n.2423+2575G>C
n.1878C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539494C>TCA376072030CACNB2,NSUN6c.1609C>T (p.His537Tyr)
c.1474C>T (p.His492Tyr)
c.1597C>T (p.His533Tyr)
c.1669C>T (p.His557Tyr)
c.1753C>T (p.His585Tyr)
c.1591C>T (p.His531Tyr)
c.1378C>T (p.His460Tyr)
c.1555C>T (p.His519Tyr)
c.*894C>T (n.*894C>T)
c.1495C>T (p.His499Tyr)
c.*1027C>T (n.*1027C>T)
c.1310C>T (n.1310C>T)
c.*992C>T (n.*992C>T)
c.1573C>T (p.His525Tyr)
c.*853C>T (n.*853C>T)
c.1681C>T (p.His561Tyr)
c.1003C>T (p.His335Tyr)
c.1588C>T (p.His530Tyr)
c.1457C>T (n.1457C>T)
c.265C>T (p.His89Tyr)
c.838C>T (p.His280Tyr)
c.1516C>T (p.His506Tyr)
c.1639C>T (p.His547Tyr)
c.913C>T (p.His305Tyr)
c.1519C>T (p.His507Tyr)
n.2423+2575G>A
n.1878C>T
 dbSNP gnomAD v3 gnomAD v4
10g.18539495A=CA1894173622CACNB2,NSUN6c.1610A= (p.His537=)
c.1475A= (p.His492=)
c.1598A= (p.His533=)
c.1670A= (p.His557=)
c.1754A= (p.His585=)
c.1592A= (p.His531=)
c.1379A= (p.His460=)
c.1556A= (p.His519=)
c.*895A= (n.*895A=)
c.1496A= (p.His499=)
c.*1028A= (n.*1028A=)
c.1311A= (n.1311A=)
c.*993A= (n.*993A=)
c.1574A= (p.His525=)
c.*854A= (n.*854A=)
c.1682A= (p.His561=)
c.1004A= (p.His335=)
c.1589A= (p.His530=)
c.1458A= (n.1458A=)
c.266A= (p.His89=)
c.839A= (p.His280=)
c.1517A= (p.His506=)
c.1640A= (p.His547=)
c.914A= (p.His305=)
c.1520A= (p.His507=)
n.2423+2574T=
n.1879A=
10g.18539495A>CCA376072033CACNB2,NSUN6c.1610A>C (p.His537Pro)
c.1475A>C (p.His492Pro)
c.1598A>C (p.His533Pro)
c.1670A>C (p.His557Pro)
c.1754A>C (p.His585Pro)
c.1592A>C (p.His531Pro)
c.1379A>C (p.His460Pro)
c.1556A>C (p.His519Pro)
c.*895A>C (n.*895A>C)
c.1496A>C (p.His499Pro)
c.*1028A>C (n.*1028A>C)
c.1311A>C (n.1311A>C)
c.*993A>C (n.*993A>C)
c.1574A>C (p.His525Pro)
c.*854A>C (n.*854A>C)
c.1682A>C (p.His561Pro)
c.1004A>C (p.His335Pro)
c.1589A>C (p.His530Pro)
c.1458A>C (n.1458A>C)
c.266A>C (p.His89Pro)
c.839A>C (p.His280Pro)
c.1517A>C (p.His506Pro)
c.1640A>C (p.His547Pro)
c.914A>C (p.His305Pro)
c.1520A>C (p.His507Pro)
n.2423+2574T>G
n.1879A>C
10g.18539495A>GCA376072034CACNB2,NSUN6c.1610A>G (p.His537Arg)
c.1475A>G (p.His492Arg)
c.1598A>G (p.His533Arg)
c.1670A>G (p.His557Arg)
c.1754A>G (p.His585Arg)
c.1592A>G (p.His531Arg)
c.1379A>G (p.His460Arg)
c.1556A>G (p.His519Arg)
c.*895A>G (n.*895A>G)
c.1496A>G (p.His499Arg)
c.*1028A>G (n.*1028A>G)
c.1311A>G (n.1311A>G)
c.*993A>G (n.*993A>G)
c.1574A>G (p.His525Arg)
c.*854A>G (n.*854A>G)
c.1682A>G (p.His561Arg)
c.1004A>G (p.His335Arg)
c.1589A>G (p.His530Arg)
c.1458A>G (n.1458A>G)
c.266A>G (p.His89Arg)
c.839A>G (p.His280Arg)
c.1517A>G (p.His506Arg)
c.1640A>G (p.His547Arg)
c.914A>G (p.His305Arg)
c.1520A>G (p.His507Arg)
n.2423+2574T>C
n.1879A>G
 ClinVar dbSNP gnomAD v4
10g.18539495A>TCA376072037CACNB2,NSUN6c.1610A>T (p.His537Leu)
c.1475A>T (p.His492Leu)
c.1598A>T (p.His533Leu)
c.1670A>T (p.His557Leu)
c.1754A>T (p.His585Leu)
c.1592A>T (p.His531Leu)
c.1379A>T (p.His460Leu)
c.1556A>T (p.His519Leu)
c.*895A>T (n.*895A>T)
c.1496A>T (p.His499Leu)
c.*1028A>T (n.*1028A>T)
c.1311A>T (n.1311A>T)
c.*993A>T (n.*993A>T)
c.1574A>T (p.His525Leu)
c.*854A>T (n.*854A>T)
c.1682A>T (p.His561Leu)
c.1004A>T (p.His335Leu)
c.1589A>T (p.His530Leu)
c.1458A>T (n.1458A>T)
c.266A>T (p.His89Leu)
c.839A>T (p.His280Leu)
c.1517A>T (p.His506Leu)
c.1640A>T (p.His547Leu)
c.914A>T (p.His305Leu)
c.1520A>T (p.His507Leu)
n.2423+2574T>A
n.1879A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.18539496C>ACA376072040CACNB2,NSUN6c.1611C>A (p.His537Gln)
c.1476C>A (p.His492Gln)
c.1599C>A (p.His533Gln)
c.1671C>A (p.His557Gln)
c.1755C>A (p.His585Gln)
c.1593C>A (p.His531Gln)
c.1380C>A (p.His460Gln)
c.1557C>A (p.His519Gln)
c.*896C>A (n.*896C>A)
c.1497C>A (p.His499Gln)
c.*1029C>A (n.*1029C>A)
c.1312C>A (n.1312C>A)
c.*994C>A (n.*994C>A)
c.1575C>A (p.His525Gln)
c.*855C>A (n.*855C>A)
c.1683C>A (p.His561Gln)
c.1005C>A (p.His335Gln)
c.1590C>A (p.His530Gln)
c.1459C>A (n.1459C>A)
c.267C>A (p.His89Gln)
c.840C>A (p.His280Gln)
c.1518C>A (p.His506Gln)
c.1641C>A (p.His547Gln)
c.915C>A (p.His305Gln)
c.1521C>A (p.His507Gln)
n.2423+2573G>T
n.1880C>A
10g.18539496C=CA1894173630CACNB2,NSUN6c.1611C= (p.His537=)
c.1476C= (p.His492=)
c.1599C= (p.His533=)
c.1671C= (p.His557=)
c.1755C= (p.His585=)
c.1593C= (p.His531=)
c.1380C= (p.His460=)
c.1557C= (p.His519=)
c.*896C= (n.*896C=)
c.1497C= (p.His499=)
c.*1029C= (n.*1029C=)
c.1312C= (n.1312C=)
c.*994C= (n.*994C=)
c.1575C= (p.His525=)
c.*855C= (n.*855C=)
c.1683C= (p.His561=)
c.1005C= (p.His335=)
c.1590C= (p.His530=)
c.1459C= (n.1459C=)
c.267C= (p.His89=)
c.840C= (p.His280=)
c.1518C= (p.His506=)
c.1641C= (p.His547=)
c.915C= (p.His305=)
c.1521C= (p.His507=)
n.2423+2573G=
n.1880C=
10g.18539496C>GCA376072042CACNB2,NSUN6c.1611C>G (p.His537Gln)
c.1476C>G (p.His492Gln)
c.1599C>G (p.His533Gln)
c.1671C>G (p.His557Gln)
c.1755C>G (p.His585Gln)
c.1593C>G (p.His531Gln)
c.1380C>G (p.His460Gln)
c.1557C>G (p.His519Gln)
c.*896C>G (n.*896C>G)
c.1497C>G (p.His499Gln)
c.*1029C>G (n.*1029C>G)
c.1312C>G (n.1312C>G)
c.*994C>G (n.*994C>G)
c.1575C>G (p.His525Gln)
c.*855C>G (n.*855C>G)
c.1683C>G (p.His561Gln)
c.1005C>G (p.His335Gln)
c.1590C>G (p.His530Gln)
c.1459C>G (n.1459C>G)
c.267C>G (p.His89Gln)
c.840C>G (p.His280Gln)
c.1518C>G (p.His506Gln)
c.1641C>G (p.His547Gln)
c.915C>G (p.His305Gln)
c.1521C>G (p.His507Gln)
n.2423+2573G>C
n.1880C>G
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539496C>TCA203167281CACNB2,NSUN6c.1611C>T (p.His537=)
c.1476C>T (p.His492=)
c.1599C>T (p.His533=)
c.1671C>T (p.His557=)
c.1755C>T (p.His585=)
c.1593C>T (p.His531=)
c.1380C>T (p.His460=)
c.1557C>T (p.His519=)
c.*896C>T (n.*896C>T)
c.1497C>T (p.His499=)
c.*1029C>T (n.*1029C>T)
c.1312C>T (n.1312C>T)
c.*994C>T (n.*994C>T)
c.1575C>T (p.His525=)
c.*855C>T (n.*855C>T)
c.1683C>T (p.His561=)
c.1005C>T (p.His335=)
c.1590C>T (p.His530=)
c.1459C>T (n.1459C>T)
c.267C>T (p.His89=)
c.840C>T (p.His280=)
c.1518C>T (p.His506=)
c.1641C>T (p.His547=)
c.915C>T (p.His305=)
c.1521C>T (p.His507=)
n.2423+2573G>A
n.1880C>T
 ClinVar dbSNP gnomAD v4
10g.18539497C>ACA376072047CACNB2,NSUN6c.1612C>A (p.Arg538Ser)
c.1477C>A (p.Arg493Ser)
c.1600C>A (p.Arg534Ser)
c.1672C>A (p.Arg558Ser)
c.1756C>A (p.Arg586Ser)
c.1594C>A (p.Arg532Ser)
c.1381C>A (p.Arg461Ser)
c.1558C>A (p.Arg520Ser)
c.*897C>A (n.*897C>A)
c.1498C>A (p.Arg500Ser)
c.*1030C>A (n.*1030C>A)
c.1313C>A (n.1313C>A)
c.*995C>A (n.*995C>A)
c.1576C>A (p.Arg526Ser)
c.*856C>A (n.*856C>A)
c.1684C>A (p.Arg562Ser)
c.1006C>A (p.Arg336Ser)
c.1591C>A (p.Arg531Ser)
c.1460C>A (n.1460C>A)
c.268C>A (p.Arg90Ser)
c.841C>A (p.Arg281Ser)
c.1519C>A (p.Arg507Ser)
c.1642C>A (p.Arg548Ser)
c.916C>A (p.Arg306Ser)
c.1522C>A (p.Arg508Ser)
n.2423+2572G>T
n.1881C>A
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539497C=CA1894173642CACNB2,NSUN6c.1612C= (p.Arg538=)
c.1477C= (p.Arg493=)
c.1600C= (p.Arg534=)
c.1672C= (p.Arg558=)
c.1756C= (p.Arg586=)
c.1594C= (p.Arg532=)
c.1381C= (p.Arg461=)
c.1558C= (p.Arg520=)
c.*897C= (n.*897C=)
c.1498C= (p.Arg500=)
c.*1030C= (n.*1030C=)
c.1313C= (n.1313C=)
c.*995C= (n.*995C=)
c.1576C= (p.Arg526=)
c.*856C= (n.*856C=)
c.1684C= (p.Arg562=)
c.1006C= (p.Arg336=)
c.1591C= (p.Arg531=)
c.1460C= (n.1460C=)
c.268C= (p.Arg90=)
c.841C= (p.Arg281=)
c.1519C= (p.Arg507=)
c.1642C= (p.Arg548=)
c.916C= (p.Arg306=)
c.1522C= (p.Arg508=)
n.2423+2572G=
n.1881C=
10g.18539497C>GCA376072049CACNB2,NSUN6c.1612C>G (p.Arg538Gly)
c.1477C>G (p.Arg493Gly)
c.1600C>G (p.Arg534Gly)
c.1672C>G (p.Arg558Gly)
c.1756C>G (p.Arg586Gly)
c.1594C>G (p.Arg532Gly)
c.1381C>G (p.Arg461Gly)
c.1558C>G (p.Arg520Gly)
c.*897C>G (n.*897C>G)
c.1498C>G (p.Arg500Gly)
c.*1030C>G (n.*1030C>G)
c.1313C>G (n.1313C>G)
c.*995C>G (n.*995C>G)
c.1576C>G (p.Arg526Gly)
c.*856C>G (n.*856C>G)
c.1684C>G (p.Arg562Gly)
c.1006C>G (p.Arg336Gly)
c.1591C>G (p.Arg531Gly)
c.1460C>G (n.1460C>G)
c.268C>G (p.Arg90Gly)
c.841C>G (p.Arg281Gly)
c.1519C>G (p.Arg507Gly)
c.1642C>G (p.Arg548Gly)
c.916C>G (p.Arg306Gly)
c.1522C>G (p.Arg508Gly)
n.2423+2572G>C
n.1881C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539497C>TCA5430160CACNB2,NSUN6c.1612C>T (p.Arg538Cys)
c.1477C>T (p.Arg493Cys)
c.1600C>T (p.Arg534Cys)
c.1672C>T (p.Arg558Cys)
c.1756C>T (p.Arg586Cys)
c.1594C>T (p.Arg532Cys)
c.1381C>T (p.Arg461Cys)
c.1558C>T (p.Arg520Cys)
c.*897C>T (n.*897C>T)
c.1498C>T (p.Arg500Cys)
c.*1030C>T (n.*1030C>T)
c.1313C>T (n.1313C>T)
c.*995C>T (n.*995C>T)
c.1576C>T (p.Arg526Cys)
c.*856C>T (n.*856C>T)
c.1684C>T (p.Arg562Cys)
c.1006C>T (p.Arg336Cys)
c.1591C>T (p.Arg531Cys)
c.1460C>T (n.1460C>T)
c.268C>T (p.Arg90Cys)
c.841C>T (p.Arg281Cys)
c.1519C>T (p.Arg507Cys)
c.1642C>T (p.Arg548Cys)
c.916C>T (p.Arg306Cys)
c.1522C>T (p.Arg508Cys)
n.2423+2572G>A
n.1881C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.18539497_18539533delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCACA1894173640CACNB2,NSUN6c.1612_1648delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg538=)
c.1477_1513delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg493=)
c.1600_1636delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg534=)
c.1672_1708delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg558=)
c.1756_1792delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg586=)
c.1594_1630delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg532=)
c.1381_1417delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg461=)
c.1558_1594delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg520=)
c.*897_*933delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*897_*933delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.1498_1534delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg500=)
c.*1030_*1066delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*1030_*1066delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.1313_1349delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.1313_1349delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.*995_*1031delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*995_*1031delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.1576_1612delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg526=)
c.*856_*892delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.*856_*892delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.1684_1720delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg562=)
c.1006_1042delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg336=)
c.1591_1627delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg531=)
c.1460_1496delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (n.1460_1496delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA)
c.268_304delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg90=)
c.841_877delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg281=)
c.1519_1555delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg507=)
c.1642_1678delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg548=)
c.916_952delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg306=)
c.1522_1558delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA (p.Arg508=)
n.2423+2536_2423+2572delinsTGCTCCCGTGGGTCTCGTCTCTGTGGTTGTGGTCACG
n.1881_1917delinsCGTGACCACAACCACAGAGACGAGACCCACGGGAGCA
10g.18539498G>ACA5430161CACNB2,NSUN6c.1613G>A (p.Arg538His)
c.1478G>A (p.Arg493His)
c.1601G>A (p.Arg534His)
c.1673G>A (p.Arg558His)
c.1757G>A (p.Arg586His)
c.1595G>A (p.Arg532His)
c.1382G>A (p.Arg461His)
c.1559G>A (p.Arg520His)
c.*898G>A (n.*898G>A)
c.1499G>A (p.Arg500His)
c.*1031G>A (n.*1031G>A)
c.1314G>A (n.1314G>A)
c.*996G>A (n.*996G>A)
c.1577G>A (p.Arg526His)
c.*857G>A (n.*857G>A)
c.1685G>A (p.Arg562His)
c.1007G>A (p.Arg336His)
c.1592G>A (p.Arg531His)
c.1461G>A (n.1461G>A)
c.269G>A (p.Arg90His)
c.842G>A (p.Arg281His)
c.1520G>A (p.Arg507His)
c.1643G>A (p.Arg548His)
c.917G>A (p.Arg306His)
c.1523G>A (p.Arg508His)
n.2423+2571C>T
n.1882G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539498G>CCA376072054CACNB2,NSUN6c.1613G>C (p.Arg538Pro)
c.1478G>C (p.Arg493Pro)
c.1601G>C (p.Arg534Pro)
c.1673G>C (p.Arg558Pro)
c.1757G>C (p.Arg586Pro)
c.1595G>C (p.Arg532Pro)
c.1382G>C (p.Arg461Pro)
c.1559G>C (p.Arg520Pro)
c.*898G>C (n.*898G>C)
c.1499G>C (p.Arg500Pro)
c.*1031G>C (n.*1031G>C)
c.1314G>C (n.1314G>C)
c.*996G>C (n.*996G>C)
c.1577G>C (p.Arg526Pro)
c.*857G>C (n.*857G>C)
c.1685G>C (p.Arg562Pro)
c.1007G>C (p.Arg336Pro)
c.1592G>C (p.Arg531Pro)
c.1461G>C (n.1461G>C)
c.269G>C (p.Arg90Pro)
c.842G>C (p.Arg281Pro)
c.1520G>C (p.Arg507Pro)
c.1643G>C (p.Arg548Pro)
c.917G>C (p.Arg306Pro)
c.1523G>C (p.Arg508Pro)
n.2423+2571C>G
n.1882G>C
10g.18539498G=CA1894173654CACNB2,NSUN6c.1613G= (p.Arg538=)
c.1478G= (p.Arg493=)
c.1601G= (p.Arg534=)
c.1673G= (p.Arg558=)
c.1757G= (p.Arg586=)
c.1595G= (p.Arg532=)
c.1382G= (p.Arg461=)
c.1559G= (p.Arg520=)
c.*898G= (n.*898G=)
c.1499G= (p.Arg500=)
c.*1031G= (n.*1031G=)
c.1314G= (n.1314G=)
c.*996G= (n.*996G=)
c.1577G= (p.Arg526=)
c.*857G= (n.*857G=)
c.1685G= (p.Arg562=)
c.1007G= (p.Arg336=)
c.1592G= (p.Arg531=)
c.1461G= (n.1461G=)
c.269G= (p.Arg90=)
c.842G= (p.Arg281=)
c.1520G= (p.Arg507=)
c.1643G= (p.Arg548=)
c.917G= (p.Arg306=)
c.1523G= (p.Arg508=)
n.2423+2571C=
n.1882G=
10g.18539498G>TCA5430162CACNB2,NSUN6c.1613G>T (p.Arg538Leu)
c.1478G>T (p.Arg493Leu)
c.1601G>T (p.Arg534Leu)
c.1673G>T (p.Arg558Leu)
c.1757G>T (p.Arg586Leu)
c.1595G>T (p.Arg532Leu)
c.1382G>T (p.Arg461Leu)
c.1559G>T (p.Arg520Leu)
c.*898G>T (n.*898G>T)
c.1499G>T (p.Arg500Leu)
c.*1031G>T (n.*1031G>T)
c.1314G>T (n.1314G>T)
c.*996G>T (n.*996G>T)
c.1577G>T (p.Arg526Leu)
c.*857G>T (n.*857G>T)
c.1685G>T (p.Arg562Leu)
c.1007G>T (p.Arg336Leu)
c.1592G>T (p.Arg531Leu)
c.1461G>T (n.1461G>T)
c.269G>T (p.Arg90Leu)
c.842G>T (p.Arg281Leu)
c.1520G>T (p.Arg507Leu)
c.1643G>T (p.Arg548Leu)
c.917G>T (p.Arg306Leu)
c.1523G>T (p.Arg508Leu)
n.2423+2571C>A
n.1882G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539507_18539542delCA5430159CACNB2,NSUN6c.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
10g.18539499T>ACA468629706CACNB2,NSUN6c.1614T>A (p.Arg538=)
c.1479T>A (p.Arg493=)
c.1602T>A (p.Arg534=)
c.1674T>A (p.Arg558=)
c.1758T>A (p.Arg586=)
c.1596T>A (p.Arg532=)
c.1383T>A (p.Arg461=)
c.1560T>A (p.Arg520=)
c.*899T>A (n.*899T>A)
c.1500T>A (p.Arg500=)
c.*1032T>A (n.*1032T>A)
c.1315T>A (n.1315T>A)
c.*997T>A (n.*997T>A)
c.1578T>A (p.Arg526=)
c.*858T>A (n.*858T>A)
c.1686T>A (p.Arg562=)
c.1008T>A (p.Arg336=)
c.1593T>A (p.Arg531=)
c.1462T>A (n.1462T>A)
c.270T>A (p.Arg90=)
c.843T>A (p.Arg281=)
c.1521T>A (p.Arg507=)
c.1644T>A (p.Arg548=)
c.918T>A (p.Arg306=)
c.1524T>A (p.Arg508=)
n.2423+2570A>T
n.1883T>A
10g.18539499T>CCA468629709CACNB2,NSUN6c.1614T>C (p.Arg538=)
c.1479T>C (p.Arg493=)
c.1602T>C (p.Arg534=)
c.1674T>C (p.Arg558=)
c.1758T>C (p.Arg586=)
c.1596T>C (p.Arg532=)
c.1383T>C (p.Arg461=)
c.1560T>C (p.Arg520=)
c.*899T>C (n.*899T>C)
c.1500T>C (p.Arg500=)
c.*1032T>C (n.*1032T>C)
c.1315T>C (n.1315T>C)
c.*997T>C (n.*997T>C)
c.1578T>C (p.Arg526=)
c.*858T>C (n.*858T>C)
c.1686T>C (p.Arg562=)
c.1008T>C (p.Arg336=)
c.1593T>C (p.Arg531=)
c.1462T>C (n.1462T>C)
c.270T>C (p.Arg90=)
c.843T>C (p.Arg281=)
c.1521T>C (p.Arg507=)
c.1644T>C (p.Arg548=)
c.918T>C (p.Arg306=)
c.1524T>C (p.Arg508=)
n.2423+2570A>G
n.1883T>C
10g.18539499T>GCA468629713CACNB2,NSUN6c.1614T>G (p.Arg538=)
c.1479T>G (p.Arg493=)
c.1602T>G (p.Arg534=)
c.1674T>G (p.Arg558=)
c.1758T>G (p.Arg586=)
c.1596T>G (p.Arg532=)
c.1383T>G (p.Arg461=)
c.1560T>G (p.Arg520=)
c.*899T>G (n.*899T>G)
c.1500T>G (p.Arg500=)
c.*1032T>G (n.*1032T>G)
c.1315T>G (n.1315T>G)
c.*997T>G (n.*997T>G)
c.1578T>G (p.Arg526=)
c.*858T>G (n.*858T>G)
c.1686T>G (p.Arg562=)
c.1008T>G (p.Arg336=)
c.1593T>G (p.Arg531=)
c.1462T>G (n.1462T>G)
c.270T>G (p.Arg90=)
c.843T>G (p.Arg281=)
c.1521T>G (p.Arg507=)
c.1644T>G (p.Arg548=)
c.918T>G (p.Arg306=)
c.1524T>G (p.Arg508=)
n.2423+2570A>C
n.1883T>G
10g.18539500G>ACA376072061CACNB2,NSUN6c.1615G>A (p.Asp539Asn)
c.1480G>A (p.Asp494Asn)
c.1603G>A (p.Asp535Asn)
c.1675G>A (p.Asp559Asn)
c.1759G>A (p.Asp587Asn)
c.1597G>A (p.Asp533Asn)
c.1384G>A (p.Asp462Asn)
c.1561G>A (p.Asp521Asn)
c.*900G>A (n.*900G>A)
c.1501G>A (p.Asp501Asn)
c.*1033G>A (n.*1033G>A)
c.1316G>A (n.1316G>A)
c.*998G>A (n.*998G>A)
c.1579G>A (p.Asp527Asn)
c.*859G>A (n.*859G>A)
c.1687G>A (p.Asp563Asn)
c.1009G>A (p.Asp337Asn)
c.1594G>A (p.Asp532Asn)
c.1463G>A (n.1463G>A)
c.271G>A (p.Asp91Asn)
c.844G>A (p.Asp282Asn)
c.1522G>A (p.Asp508Asn)
c.1645G>A (p.Asp549Asn)
c.919G>A (p.Asp307Asn)
c.1525G>A (p.Asp509Asn)
n.2423+2569C>T
n.1884G>A
10g.18539500G>CCA376072063CACNB2,NSUN6c.1615G>C (p.Asp539His)
c.1480G>C (p.Asp494His)
c.1603G>C (p.Asp535His)
c.1675G>C (p.Asp559His)
c.1759G>C (p.Asp587His)
c.1597G>C (p.Asp533His)
c.1384G>C (p.Asp462His)
c.1561G>C (p.Asp521His)
c.*900G>C (n.*900G>C)
c.1501G>C (p.Asp501His)
c.*1033G>C (n.*1033G>C)
c.1316G>C (n.1316G>C)
c.*998G>C (n.*998G>C)
c.1579G>C (p.Asp527His)
c.*859G>C (n.*859G>C)
c.1687G>C (p.Asp563His)
c.1009G>C (p.Asp337His)
c.1594G>C (p.Asp532His)
c.1463G>C (n.1463G>C)
c.271G>C (p.Asp91His)
c.844G>C (p.Asp282His)
c.1522G>C (p.Asp508His)
c.1645G>C (p.Asp549His)
c.919G>C (p.Asp307His)
c.1525G>C (p.Asp509His)
n.2423+2569C>G
n.1884G>C
10g.18539500G>TCA376072066CACNB2,NSUN6c.1615G>T (p.Asp539Tyr)
c.1480G>T (p.Asp494Tyr)
c.1603G>T (p.Asp535Tyr)
c.1675G>T (p.Asp559Tyr)
c.1759G>T (p.Asp587Tyr)
c.1597G>T (p.Asp533Tyr)
c.1384G>T (p.Asp462Tyr)
c.1561G>T (p.Asp521Tyr)
c.*900G>T (n.*900G>T)
c.1501G>T (p.Asp501Tyr)
c.*1033G>T (n.*1033G>T)
c.1316G>T (n.1316G>T)
c.*998G>T (n.*998G>T)
c.1579G>T (p.Asp527Tyr)
c.*859G>T (n.*859G>T)
c.1687G>T (p.Asp563Tyr)
c.1009G>T (p.Asp337Tyr)
c.1594G>T (p.Asp532Tyr)
c.1463G>T (n.1463G>T)
c.271G>T (p.Asp91Tyr)
c.844G>T (p.Asp282Tyr)
c.1522G>T (p.Asp508Tyr)
c.1645G>T (p.Asp549Tyr)
c.919G>T (p.Asp307Tyr)
c.1525G>T (p.Asp509Tyr)
n.2423+2569C>A
n.1884G>T
10g.18539501A>CCA376072069CACNB2,NSUN6c.1616A>C (p.Asp539Ala)
c.1481A>C (p.Asp494Ala)
c.1604A>C (p.Asp535Ala)
c.1676A>C (p.Asp559Ala)
c.1760A>C (p.Asp587Ala)
c.1598A>C (p.Asp533Ala)
c.1385A>C (p.Asp462Ala)
c.1562A>C (p.Asp521Ala)
c.*901A>C (n.*901A>C)
c.1502A>C (p.Asp501Ala)
c.*1034A>C (n.*1034A>C)
c.1317A>C (n.1317A>C)
c.*999A>C (n.*999A>C)
c.1580A>C (p.Asp527Ala)
c.*860A>C (n.*860A>C)
c.1688A>C (p.Asp563Ala)
c.1010A>C (p.Asp337Ala)
c.1595A>C (p.Asp532Ala)
c.1464A>C (n.1464A>C)
c.272A>C (p.Asp91Ala)
c.845A>C (p.Asp282Ala)
c.1523A>C (p.Asp508Ala)
c.1646A>C (p.Asp549Ala)
c.920A>C (p.Asp307Ala)
c.1526A>C (p.Asp509Ala)
n.2423+2568T>G
n.1885A>C
10g.18539501A>GCA376072070CACNB2,NSUN6c.1616A>G (p.Asp539Gly)
c.1481A>G (p.Asp494Gly)
c.1604A>G (p.Asp535Gly)
c.1676A>G (p.Asp559Gly)
c.1760A>G (p.Asp587Gly)
c.1598A>G (p.Asp533Gly)
c.1385A>G (p.Asp462Gly)
c.1562A>G (p.Asp521Gly)
c.*901A>G (n.*901A>G)
c.1502A>G (p.Asp501Gly)
c.*1034A>G (n.*1034A>G)
c.1317A>G (n.1317A>G)
c.*999A>G (n.*999A>G)
c.1580A>G (p.Asp527Gly)
c.*860A>G (n.*860A>G)
c.1688A>G (p.Asp563Gly)
c.1010A>G (p.Asp337Gly)
c.1595A>G (p.Asp532Gly)
c.1464A>G (n.1464A>G)
c.272A>G (p.Asp91Gly)
c.845A>G (p.Asp282Gly)
c.1523A>G (p.Asp508Gly)
c.1646A>G (p.Asp549Gly)
c.920A>G (p.Asp307Gly)
c.1526A>G (p.Asp509Gly)
n.2423+2568T>C
n.1885A>G
10g.18539501A>TCA376072073CACNB2,NSUN6c.1616A>T (p.Asp539Val)
c.1481A>T (p.Asp494Val)
c.1604A>T (p.Asp535Val)
c.1676A>T (p.Asp559Val)
c.1760A>T (p.Asp587Val)
c.1598A>T (p.Asp533Val)
c.1385A>T (p.Asp462Val)
c.1562A>T (p.Asp521Val)
c.*901A>T (n.*901A>T)
c.1502A>T (p.Asp501Val)
c.*1034A>T (n.*1034A>T)
c.1317A>T (n.1317A>T)
c.*999A>T (n.*999A>T)
c.1580A>T (p.Asp527Val)
c.*860A>T (n.*860A>T)
c.1688A>T (p.Asp563Val)
c.1010A>T (p.Asp337Val)
c.1595A>T (p.Asp532Val)
c.1464A>T (n.1464A>T)
c.272A>T (p.Asp91Val)
c.845A>T (p.Asp282Val)
c.1523A>T (p.Asp508Val)
c.1646A>T (p.Asp549Val)
c.920A>T (p.Asp307Val)
c.1526A>T (p.Asp509Val)
n.2423+2568T>A
n.1885A>T
10g.18539502C>ACA376072075CACNB2,NSUN6c.1617C>A (p.Asp539Glu)
c.1482C>A (p.Asp494Glu)
c.1605C>A (p.Asp535Glu)
c.1677C>A (p.Asp559Glu)
c.1761C>A (p.Asp587Glu)
c.1599C>A (p.Asp533Glu)
c.1386C>A (p.Asp462Glu)
c.1563C>A (p.Asp521Glu)
c.*902C>A (n.*902C>A)
c.1503C>A (p.Asp501Glu)
c.*1035C>A (n.*1035C>A)
c.1318C>A (n.1318C>A)
c.*1000C>A (n.*1000C>A)
c.1581C>A (p.Asp527Glu)
c.*861C>A (n.*861C>A)
c.1689C>A (p.Asp563Glu)
c.1011C>A (p.Asp337Glu)
c.1596C>A (p.Asp532Glu)
c.1465C>A (n.1465C>A)
c.273C>A (p.Asp91Glu)
c.846C>A (p.Asp282Glu)
c.1524C>A (p.Asp508Glu)
c.1647C>A (p.Asp549Glu)
c.921C>A (p.Asp307Glu)
c.1527C>A (p.Asp509Glu)
n.2423+2567G>T
n.1886C>A
10g.18539502C=CA1894173663CACNB2,NSUN6c.1617C= (p.Asp539=)
c.1482C= (p.Asp494=)
c.1605C= (p.Asp535=)
c.1677C= (p.Asp559=)
c.1761C= (p.Asp587=)
c.1599C= (p.Asp533=)
c.1386C= (p.Asp462=)
c.1563C= (p.Asp521=)
c.*902C= (n.*902C=)
c.1503C= (p.Asp501=)
c.*1035C= (n.*1035C=)
c.1318C= (n.1318C=)
c.*1000C= (n.*1000C=)
c.1581C= (p.Asp527=)
c.*861C= (n.*861C=)
c.1689C= (p.Asp563=)
c.1011C= (p.Asp337=)
c.1596C= (p.Asp532=)
c.1465C= (n.1465C=)
c.273C= (p.Asp91=)
c.846C= (p.Asp282=)
c.1524C= (p.Asp508=)
c.1647C= (p.Asp549=)
c.921C= (p.Asp307=)
c.1527C= (p.Asp509=)
n.2423+2567G=
n.1886C=
10g.18539502C>GCA376072076CACNB2,NSUN6c.1617C>G (p.Asp539Glu)
c.1482C>G (p.Asp494Glu)
c.1605C>G (p.Asp535Glu)
c.1677C>G (p.Asp559Glu)
c.1761C>G (p.Asp587Glu)
c.1599C>G (p.Asp533Glu)
c.1386C>G (p.Asp462Glu)
c.1563C>G (p.Asp521Glu)
c.*902C>G (n.*902C>G)
c.1503C>G (p.Asp501Glu)
c.*1035C>G (n.*1035C>G)
c.1318C>G (n.1318C>G)
c.*1000C>G (n.*1000C>G)
c.1581C>G (p.Asp527Glu)
c.*861C>G (n.*861C>G)
c.1689C>G (p.Asp563Glu)
c.1011C>G (p.Asp337Glu)
c.1596C>G (p.Asp532Glu)
c.1465C>G (n.1465C>G)
c.273C>G (p.Asp91Glu)
c.846C>G (p.Asp282Glu)
c.1524C>G (p.Asp508Glu)
c.1647C>G (p.Asp549Glu)
c.921C>G (p.Asp307Glu)
c.1527C>G (p.Asp509Glu)
n.2423+2567G>C
n.1886C>G
10g.18539502C>TCA203167292CACNB2,NSUN6c.1617C>T (p.Asp539=)
c.1482C>T (p.Asp494=)
c.1605C>T (p.Asp535=)
c.1677C>T (p.Asp559=)
c.1761C>T (p.Asp587=)
c.1599C>T (p.Asp533=)
c.1386C>T (p.Asp462=)
c.1563C>T (p.Asp521=)
c.*902C>T (n.*902C>T)
c.1503C>T (p.Asp501=)
c.*1035C>T (n.*1035C>T)
c.1318C>T (n.1318C>T)
c.*1000C>T (n.*1000C>T)
c.1581C>T (p.Asp527=)
c.*861C>T (n.*861C>T)
c.1689C>T (p.Asp563=)
c.1011C>T (p.Asp337=)
c.1596C>T (p.Asp532=)
c.1465C>T (n.1465C>T)
c.273C>T (p.Asp91=)
c.846C>T (p.Asp282=)
c.1524C>T (p.Asp508=)
c.1647C>T (p.Asp549=)
c.921C>T (p.Asp307=)
c.1527C>T (p.Asp509=)
n.2423+2567G>A
n.1886C>T
 ClinVar dbSNP gnomAD v4
10g.18539503C>ACA376072079CACNB2,NSUN6c.1618C>A (p.His540Asn)
c.1483C>A (p.His495Asn)
c.1606C>A (p.His536Asn)
c.1678C>A (p.His560Asn)
c.1762C>A (p.His588Asn)
c.1600C>A (p.His534Asn)
c.1387C>A (p.His463Asn)
c.1564C>A (p.His522Asn)
c.*903C>A (n.*903C>A)
c.1504C>A (p.His502Asn)
c.*1036C>A (n.*1036C>A)
c.1319C>A (n.1319C>A)
c.*1001C>A (n.*1001C>A)
c.1582C>A (p.His528Asn)
c.*862C>A (n.*862C>A)
c.1690C>A (p.His564Asn)
c.1012C>A (p.His338Asn)
c.1597C>A (p.His533Asn)
c.1466C>A (n.1466C>A)
c.274C>A (p.His92Asn)
c.847C>A (p.His283Asn)
c.1525C>A (p.His509Asn)
c.1648C>A (p.His550Asn)
c.922C>A (p.His308Asn)
c.1528C>A (p.His510Asn)
n.2423+2566G>T
n.1887C>A
10g.18539503C>GCA376072082CACNB2,NSUN6c.1618C>G (p.His540Asp)
c.1483C>G (p.His495Asp)
c.1606C>G (p.His536Asp)
c.1678C>G (p.His560Asp)
c.1762C>G (p.His588Asp)
c.1600C>G (p.His534Asp)
c.1387C>G (p.His463Asp)
c.1564C>G (p.His522Asp)
c.*903C>G (n.*903C>G)
c.1504C>G (p.His502Asp)
c.*1036C>G (n.*1036C>G)
c.1319C>G (n.1319C>G)
c.*1001C>G (n.*1001C>G)
c.1582C>G (p.His528Asp)
c.*862C>G (n.*862C>G)
c.1690C>G (p.His564Asp)
c.1012C>G (p.His338Asp)
c.1597C>G (p.His533Asp)
c.1466C>G (n.1466C>G)
c.274C>G (p.His92Asp)
c.847C>G (p.His283Asp)
c.1525C>G (p.His509Asp)
c.1648C>G (p.His550Asp)
c.922C>G (p.His308Asp)
c.1528C>G (p.His510Asp)
n.2423+2566G>C
n.1887C>G
10g.18539503C>TCA376072081CACNB2,NSUN6c.1618C>T (p.His540Tyr)
c.1483C>T (p.His495Tyr)
c.1606C>T (p.His536Tyr)
c.1678C>T (p.His560Tyr)
c.1762C>T (p.His588Tyr)
c.1600C>T (p.His534Tyr)
c.1387C>T (p.His463Tyr)
c.1564C>T (p.His522Tyr)
c.*903C>T (n.*903C>T)
c.1504C>T (p.His502Tyr)
c.*1036C>T (n.*1036C>T)
c.1319C>T (n.1319C>T)
c.*1001C>T (n.*1001C>T)
c.1582C>T (p.His528Tyr)
c.*862C>T (n.*862C>T)
c.1690C>T (p.His564Tyr)
c.1012C>T (p.His338Tyr)
c.1597C>T (p.His533Tyr)
c.1466C>T (n.1466C>T)
c.274C>T (p.His92Tyr)
c.847C>T (p.His283Tyr)
c.1525C>T (p.His509Tyr)
c.1648C>T (p.His550Tyr)
c.922C>T (p.His308Tyr)
c.1528C>T (p.His510Tyr)
n.2423+2566G>A
n.1887C>T
10g.18539504A>CCA376072085CACNB2,NSUN6c.1619A>C (p.His540Pro)
c.1484A>C (p.His495Pro)
c.1607A>C (p.His536Pro)
c.1679A>C (p.His560Pro)
c.1763A>C (p.His588Pro)
c.1601A>C (p.His534Pro)
c.1388A>C (p.His463Pro)
c.1565A>C (p.His522Pro)
c.*904A>C (n.*904A>C)
c.1505A>C (p.His502Pro)
c.*1037A>C (n.*1037A>C)
c.1320A>C (n.1320A>C)
c.*1002A>C (n.*1002A>C)
c.1583A>C (p.His528Pro)
c.*863A>C (n.*863A>C)
c.1691A>C (p.His564Pro)
c.1013A>C (p.His338Pro)
c.1598A>C (p.His533Pro)
c.1467A>C (n.1467A>C)
c.275A>C (p.His92Pro)
c.848A>C (p.His283Pro)
c.1526A>C (p.His509Pro)
c.1649A>C (p.His550Pro)
c.923A>C (p.His308Pro)
c.1529A>C (p.His510Pro)
n.2423+2565T>G
n.1888A>C
10g.18539504A>GCA376072086CACNB2,NSUN6c.1619A>G (p.His540Arg)
c.1484A>G (p.His495Arg)
c.1607A>G (p.His536Arg)
c.1679A>G (p.His560Arg)
c.1763A>G (p.His588Arg)
c.1601A>G (p.His534Arg)
c.1388A>G (p.His463Arg)
c.1565A>G (p.His522Arg)
c.*904A>G (n.*904A>G)
c.1505A>G (p.His502Arg)
c.*1037A>G (n.*1037A>G)
c.1320A>G (n.1320A>G)
c.*1002A>G (n.*1002A>G)
c.1583A>G (p.His528Arg)
c.*863A>G (n.*863A>G)
c.1691A>G (p.His564Arg)
c.1013A>G (p.His338Arg)
c.1598A>G (p.His533Arg)
c.1467A>G (n.1467A>G)
c.275A>G (p.His92Arg)
c.848A>G (p.His283Arg)
c.1526A>G (p.His509Arg)
c.1649A>G (p.His550Arg)
c.923A>G (p.His308Arg)
c.1529A>G (p.His510Arg)
n.2423+2565T>C
n.1888A>G
10g.18539504A>TCA376072088CACNB2,NSUN6c.1619A>T (p.His540Leu)
c.1484A>T (p.His495Leu)
c.1607A>T (p.His536Leu)
c.1679A>T (p.His560Leu)
c.1763A>T (p.His588Leu)
c.1601A>T (p.His534Leu)
c.1388A>T (p.His463Leu)
c.1565A>T (p.His522Leu)
c.*904A>T (n.*904A>T)
c.1505A>T (p.His502Leu)
c.*1037A>T (n.*1037A>T)
c.1320A>T (n.1320A>T)
c.*1002A>T (n.*1002A>T)
c.1583A>T (p.His528Leu)
c.*863A>T (n.*863A>T)
c.1691A>T (p.His564Leu)
c.1013A>T (p.His338Leu)
c.1598A>T (p.His533Leu)
c.1467A>T (n.1467A>T)
c.275A>T (p.His92Leu)
c.848A>T (p.His283Leu)
c.1526A>T (p.His509Leu)
c.1649A>T (p.His550Leu)
c.923A>T (p.His308Leu)
c.1529A>T (p.His510Leu)
n.2423+2565T>A
n.1888A>T
10g.18539505delCA2608435627CACNB2,NSUN6c.1620del (p.His540GlnfsTer?)
c.1485del (p.His495GlnfsTer?)
c.1608del (p.His536GlnfsTer?)
c.1680del (p.His560GlnfsTer?)
c.1764del (p.His588GlnfsTer?)
c.1602del (p.His534GlnfsTer?)
c.1389del (p.His463GlnfsTer?)
c.1566del (p.His522GlnfsTer?)
c.*905del (n.*905del)
c.1506del (p.His502GlnfsTer?)
c.*1038del (n.*1038del)
c.1321del (n.1321del)
c.*1003del (n.*1003del)
c.1584del (p.His528GlnfsTer?)
c.*864del (n.*864del)
c.1692del (p.His564GlnfsTer?)
c.1014del (p.His338GlnfsTer?)
c.1599del (p.His533GlnfsTer?)
c.1468del (n.1468del)
c.276del (p.His92GlnfsTer?)
c.849del (p.His283GlnfsTer?)
c.1527del (p.His509GlnfsTer?)
c.1650del (p.His550GlnfsTer?)
c.924del (p.His308GlnfsTer?)
c.1530del (p.His510GlnfsTer?)
n.2423+2564del
n.1889del
 gnomAD v4
10g.18539505C>ACA376072089CACNB2,NSUN6c.1620C>A (p.His540Gln)
c.1485C>A (p.His495Gln)
c.1608C>A (p.His536Gln)
c.1680C>A (p.His560Gln)
c.1764C>A (p.His588Gln)
c.1602C>A (p.His534Gln)
c.1389C>A (p.His463Gln)
c.1566C>A (p.His522Gln)
c.*905C>A (n.*905C>A)
c.1506C>A (p.His502Gln)
c.*1038C>A (n.*1038C>A)
c.1321C>A (n.1321C>A)
c.*1003C>A (n.*1003C>A)
c.1584C>A (p.His528Gln)
c.*864C>A (n.*864C>A)
c.1692C>A (p.His564Gln)
c.1014C>A (p.His338Gln)
c.1599C>A (p.His533Gln)
c.1468C>A (n.1468C>A)
c.276C>A (p.His92Gln)
c.849C>A (p.His283Gln)
c.1527C>A (p.His509Gln)
c.1650C>A (p.His550Gln)
c.924C>A (p.His308Gln)
c.1530C>A (p.His510Gln)
n.2423+2564G>T
n.1889C>A
 gnomAD v4
10g.18539505C=CA1894173669CACNB2,NSUN6c.1620C= (p.His540=)
c.1485C= (p.His495=)
c.1608C= (p.His536=)
c.1680C= (p.His560=)
c.1764C= (p.His588=)
c.1602C= (p.His534=)
c.1389C= (p.His463=)
c.1566C= (p.His522=)
c.*905C= (n.*905C=)
c.1506C= (p.His502=)
c.*1038C= (n.*1038C=)
c.1321C= (n.1321C=)
c.*1003C= (n.*1003C=)
c.1584C= (p.His528=)
c.*864C= (n.*864C=)
c.1692C= (p.His564=)
c.1014C= (p.His338=)
c.1599C= (p.His533=)
c.1468C= (n.1468C=)
c.276C= (p.His92=)
c.849C= (p.His283=)
c.1527C= (p.His509=)
c.1650C= (p.His550=)
c.924C= (p.His308=)
c.1530C= (p.His510=)
n.2423+2564G=
n.1889C=
10g.18539505C>GCA376072090CACNB2,NSUN6c.1620C>G (p.His540Gln)
c.1485C>G (p.His495Gln)
c.1608C>G (p.His536Gln)
c.1680C>G (p.His560Gln)
c.1764C>G (p.His588Gln)
c.1602C>G (p.His534Gln)
c.1389C>G (p.His463Gln)
c.1566C>G (p.His522Gln)
c.*905C>G (n.*905C>G)
c.1506C>G (p.His502Gln)
c.*1038C>G (n.*1038C>G)
c.1321C>G (n.1321C>G)
c.*1003C>G (n.*1003C>G)
c.1584C>G (p.His528Gln)
c.*864C>G (n.*864C>G)
c.1692C>G (p.His564Gln)
c.1014C>G (p.His338Gln)
c.1599C>G (p.His533Gln)
c.1468C>G (n.1468C>G)
c.276C>G (p.His92Gln)
c.849C>G (p.His283Gln)
c.1527C>G (p.His509Gln)
c.1650C>G (p.His550Gln)
c.924C>G (p.His308Gln)
c.1530C>G (p.His510Gln)
n.2423+2564G>C
n.1889C>G
10g.18539505C>TCA468629774CACNB2,NSUN6c.1620C>T (p.His540=)
c.1485C>T (p.His495=)
c.1608C>T (p.His536=)
c.1680C>T (p.His560=)
c.1764C>T (p.His588=)
c.1602C>T (p.His534=)
c.1389C>T (p.His463=)
c.1566C>T (p.His522=)
c.*905C>T (n.*905C>T)
c.1506C>T (p.His502=)
c.*1038C>T (n.*1038C>T)
c.1321C>T (n.1321C>T)
c.*1003C>T (n.*1003C>T)
c.1584C>T (p.His528=)
c.*864C>T (n.*864C>T)
c.1692C>T (p.His564=)
c.1014C>T (p.His338=)
c.1599C>T (p.His533=)
c.1468C>T (n.1468C>T)
c.276C>T (p.His92=)
c.849C>T (p.His283=)
c.1527C>T (p.His509=)
c.1650C>T (p.His550=)
c.924C>T (p.His308=)
c.1530C>T (p.His510=)
n.2423+2564G>A
n.1889C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539506A=CA1894173672CACNB2,NSUN6c.1621A= (p.Asn541=)
c.1486A= (p.Asn496=)
c.1609A= (p.Asn537=)
c.1681A= (p.Asn561=)
c.1765A= (p.Asn589=)
c.1603A= (p.Asn535=)
c.1390A= (p.Asn464=)
c.1567A= (p.Asn523=)
c.*906A= (n.*906A=)
c.1507A= (p.Asn503=)
c.*1039A= (n.*1039A=)
c.1322A= (n.1322A=)
c.*1004A= (n.*1004A=)
c.1585A= (p.Asn529=)
c.*865A= (n.*865A=)
c.1693A= (p.Asn565=)
c.1015A= (p.Asn339=)
c.1600A= (p.Asn534=)
c.1469A= (n.1469A=)
c.277A= (p.Asn93=)
c.850A= (p.Asn284=)
c.1528A= (p.Asn510=)
c.1651A= (p.Asn551=)
c.925A= (p.Asn309=)
c.1531A= (p.Asn511=)
n.2423+2563T=
n.1890A=
10g.18539506A>CCA376072091CACNB2,NSUN6c.1621A>C (p.Asn541His)
c.1486A>C (p.Asn496His)
c.1609A>C (p.Asn537His)
c.1681A>C (p.Asn561His)
c.1765A>C (p.Asn589His)
c.1603A>C (p.Asn535His)
c.1390A>C (p.Asn464His)
c.1567A>C (p.Asn523His)
c.*906A>C (n.*906A>C)
c.1507A>C (p.Asn503His)
c.*1039A>C (n.*1039A>C)
c.1322A>C (n.1322A>C)
c.*1004A>C (n.*1004A>C)
c.1585A>C (p.Asn529His)
c.*865A>C (n.*865A>C)
c.1693A>C (p.Asn565His)
c.1015A>C (p.Asn339His)
c.1600A>C (p.Asn534His)
c.1469A>C (n.1469A>C)
c.277A>C (p.Asn93His)
c.850A>C (p.Asn284His)
c.1528A>C (p.Asn510His)
c.1651A>C (p.Asn551His)
c.925A>C (p.Asn309His)
c.1531A>C (p.Asn511His)
n.2423+2563T>G
n.1890A>C
10g.18539506A>GCA376072092CACNB2,NSUN6c.1621A>G (p.Asn541Asp)
c.1486A>G (p.Asn496Asp)
c.1609A>G (p.Asn537Asp)
c.1681A>G (p.Asn561Asp)
c.1765A>G (p.Asn589Asp)
c.1603A>G (p.Asn535Asp)
c.1390A>G (p.Asn464Asp)
c.1567A>G (p.Asn523Asp)
c.*906A>G (n.*906A>G)
c.1507A>G (p.Asn503Asp)
c.*1039A>G (n.*1039A>G)
c.1322A>G (n.1322A>G)
c.*1004A>G (n.*1004A>G)
c.1585A>G (p.Asn529Asp)
c.*865A>G (n.*865A>G)
c.1693A>G (p.Asn565Asp)
c.1015A>G (p.Asn339Asp)
c.1600A>G (p.Asn534Asp)
c.1469A>G (n.1469A>G)
c.277A>G (p.Asn93Asp)
c.850A>G (p.Asn284Asp)
c.1528A>G (p.Asn510Asp)
c.1651A>G (p.Asn551Asp)
c.925A>G (p.Asn309Asp)
c.1531A>G (p.Asn511Asp)
n.2423+2563T>C
n.1890A>G
 gnomAD v4
10g.18539506A>TCA376072093CACNB2,NSUN6c.1621A>T (p.Asn541Tyr)
c.1486A>T (p.Asn496Tyr)
c.1609A>T (p.Asn537Tyr)
c.1681A>T (p.Asn561Tyr)
c.1765A>T (p.Asn589Tyr)
c.1603A>T (p.Asn535Tyr)
c.1390A>T (p.Asn464Tyr)
c.1567A>T (p.Asn523Tyr)
c.*906A>T (n.*906A>T)
c.1507A>T (p.Asn503Tyr)
c.*1039A>T (n.*1039A>T)
c.1322A>T (n.1322A>T)
c.*1004A>T (n.*1004A>T)
c.1585A>T (p.Asn529Tyr)
c.*865A>T (n.*865A>T)
c.1693A>T (p.Asn565Tyr)
c.1015A>T (p.Asn339Tyr)
c.1600A>T (p.Asn534Tyr)
c.1469A>T (n.1469A>T)
c.277A>T (p.Asn93Tyr)
c.850A>T (p.Asn284Tyr)
c.1528A>T (p.Asn510Tyr)
c.1651A>T (p.Asn551Tyr)
c.925A>T (p.Asn309Tyr)
c.1531A>T (p.Asn511Tyr)
n.2423+2563T>A
n.1890A>T
10g.18539506_18539535delCA2608435628CACNB2,NSUN6c.1621_1650del (p.Asn541_Ser550del)
c.1486_1515del (p.Asn496_Ser505del)
c.1609_1638del (p.Asn537_Ser546del)
c.1681_1710del (p.Asn561_Ser570del)
c.1765_1794del (p.Asn589_Ser598del)
c.1603_1632del (p.Asn535_Ser544del)
c.1390_1419del (p.Asn464_Ser473del)
c.1567_1596del (p.Asn523_Ser532del)
c.*906_*935del (n.*906_*935del)
c.1507_1536del (p.Asn503_Ser512del)
c.*1039_*1068del (n.*1039_*1068del)
c.1322_1351del (n.1322_1351del)
c.*1004_*1033del (n.*1004_*1033del)
c.1585_1614del (p.Asn529_Ser538del)
c.*865_*894del (n.*865_*894del)
c.1693_1722del (p.Asn565_Ser574del)
c.1015_1044del (p.Asn339_Ser348del)
c.1600_1629del (p.Asn534_Ser543del)
c.1469_1498del (n.1469_1498del)
c.277_306del (p.Asn93_Ser102del)
c.850_879del (p.Asn284_Ser293del)
c.1528_1557del (p.Asn510_Ser519del)
c.1651_1680del (p.Asn551_Ser560del)
c.925_954del (p.Asn309_Ser318del)
c.1531_1560del (p.Asn511_Ser520del)
n.2423+2534_2423+2563del
n.1890_1919del
 gnomAD v4
10g.18539507A=CA1894173673CACNB2,NSUN6c.1622A= (p.Asn541=)
c.1487A= (p.Asn496=)
c.1610A= (p.Asn537=)
c.1682A= (p.Asn561=)
c.1766A= (p.Asn589=)
c.1604A= (p.Asn535=)
c.1391A= (p.Asn464=)
c.1568A= (p.Asn523=)
c.*907A= (n.*907A=)
c.1508A= (p.Asn503=)
c.*1040A= (n.*1040A=)
c.1323A= (n.1323A=)
c.*1005A= (n.*1005A=)
c.1586A= (p.Asn529=)
c.*866A= (n.*866A=)
c.1694A= (p.Asn565=)
c.1016A= (p.Asn339=)
c.1601A= (p.Asn534=)
c.1470A= (n.1470A=)
c.278A= (p.Asn93=)
c.851A= (p.Asn284=)
c.1529A= (p.Asn510=)
c.1652A= (p.Asn551=)
c.926A= (p.Asn309=)
c.1532A= (p.Asn511=)
n.2423+2562T=
n.1891A=
10g.18539507A>CCA376072095CACNB2,NSUN6c.1622A>C (p.Asn541Thr)
c.1487A>C (p.Asn496Thr)
c.1610A>C (p.Asn537Thr)
c.1682A>C (p.Asn561Thr)
c.1766A>C (p.Asn589Thr)
c.1604A>C (p.Asn535Thr)
c.1391A>C (p.Asn464Thr)
c.1568A>C (p.Asn523Thr)
c.*907A>C (n.*907A>C)
c.1508A>C (p.Asn503Thr)
c.*1040A>C (n.*1040A>C)
c.1323A>C (n.1323A>C)
c.*1005A>C (n.*1005A>C)
c.1586A>C (p.Asn529Thr)
c.*866A>C (n.*866A>C)
c.1694A>C (p.Asn565Thr)
c.1016A>C (p.Asn339Thr)
c.1601A>C (p.Asn534Thr)
c.1470A>C (n.1470A>C)
c.278A>C (p.Asn93Thr)
c.851A>C (p.Asn284Thr)
c.1529A>C (p.Asn510Thr)
c.1652A>C (p.Asn551Thr)
c.926A>C (p.Asn309Thr)
c.1532A>C (p.Asn511Thr)
n.2423+2562T>G
n.1891A>C
10g.18539507A>GCA376072096CACNB2,NSUN6c.1622A>G (p.Asn541Ser)
c.1487A>G (p.Asn496Ser)
c.1610A>G (p.Asn537Ser)
c.1682A>G (p.Asn561Ser)
c.1766A>G (p.Asn589Ser)
c.1604A>G (p.Asn535Ser)
c.1391A>G (p.Asn464Ser)
c.1568A>G (p.Asn523Ser)
c.*907A>G (n.*907A>G)
c.1508A>G (p.Asn503Ser)
c.*1040A>G (n.*1040A>G)
c.1323A>G (n.1323A>G)
c.*1005A>G (n.*1005A>G)
c.1586A>G (p.Asn529Ser)
c.*866A>G (n.*866A>G)
c.1694A>G (p.Asn565Ser)
c.1016A>G (p.Asn339Ser)
c.1601A>G (p.Asn534Ser)
c.1470A>G (n.1470A>G)
c.278A>G (p.Asn93Ser)
c.851A>G (p.Asn284Ser)
c.1529A>G (p.Asn510Ser)
c.1652A>G (p.Asn551Ser)
c.926A>G (p.Asn309Ser)
c.1532A>G (p.Asn511Ser)
n.2423+2562T>C
n.1891A>G
 dbSNP gnomAD v4
10g.18539507A>TCA376072099CACNB2,NSUN6c.1622A>T (p.Asn541Ile)
c.1487A>T (p.Asn496Ile)
c.1610A>T (p.Asn537Ile)
c.1682A>T (p.Asn561Ile)
c.1766A>T (p.Asn589Ile)
c.1604A>T (p.Asn535Ile)
c.1391A>T (p.Asn464Ile)
c.1568A>T (p.Asn523Ile)
c.*907A>T (n.*907A>T)
c.1508A>T (p.Asn503Ile)
c.*1040A>T (n.*1040A>T)
c.1323A>T (n.1323A>T)
c.*1005A>T (n.*1005A>T)
c.1586A>T (p.Asn529Ile)
c.*866A>T (n.*866A>T)
c.1694A>T (p.Asn565Ile)
c.1016A>T (p.Asn339Ile)
c.1601A>T (p.Asn534Ile)
c.1470A>T (n.1470A>T)
c.278A>T (p.Asn93Ile)
c.851A>T (p.Asn284Ile)
c.1529A>T (p.Asn510Ile)
c.1652A>T (p.Asn551Ile)
c.926A>T (p.Asn309Ile)
c.1532A>T (p.Asn511Ile)
n.2423+2562T>A
n.1891A>T
 gnomAD v4
10g.18539508_18539519dupCA925494101CACNB2,NSUN6c.1623_1634dup (p.Asp544_Glu545insAspHisArgAsp)
c.1488_1499dup (p.Asp499_Glu500insAspHisArgAsp)
c.1611_1622dup (p.Asp540_Glu541insAspHisArgAsp)
c.1683_1694dup (p.Asp564_Glu565insAspHisArgAsp)
c.1767_1778dup (p.Asp592_Glu593insAspHisArgAsp)
c.1605_1616dup (p.Asp538_Glu539insAspHisArgAsp)
c.1392_1403dup (p.Asp467_Glu468insAspHisArgAsp)
c.1569_1580dup (p.Asp526_Glu527insAspHisArgAsp)
c.*908_*919dup (n.*908_*919dup)
c.1509_1520dup (p.Asp506_Glu507insAspHisArgAsp)
c.*1041_*1052dup (n.*1041_*1052dup)
c.1324_1335dup (n.1324_1335dup)
c.*1006_*1017dup (n.*1006_*1017dup)
c.1587_1598dup (p.Asp532_Glu533insAspHisArgAsp)
c.*867_*878dup (n.*867_*878dup)
c.1695_1706dup (p.Asp568_Glu569insAspHisArgAsp)
c.1017_1028dup (p.Asp342_Glu343insAspHisArgAsp)
c.1602_1613dup (p.Asp537_Glu538insAspHisArgAsp)
c.1471_1482dup (n.1471_1482dup)
c.279_290dup (p.Asp96_Glu97insAspHisArgAsp)
c.852_863dup (p.Asp287_Glu288insAspHisArgAsp)
c.1530_1541dup (p.Asp513_Glu514insAspHisArgAsp)
c.1653_1664dup (p.Asp554_Glu555insAspHisArgAsp)
c.927_938dup (p.Asp312_Glu313insAspHisArgAsp)
c.1533_1544dup (p.Asp514_Glu515insAspHisArgAsp)
n.2423+2551_2423+2562dup
n.1892_1903dup
 dbSNP
10g.18539515_18539544dupCA2608435629CACNB2,NSUN6c.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
10g.18539508C>ACA376072101CACNB2,NSUN6c.1623C>A (p.Asn541Lys)
c.1488C>A (p.Asn496Lys)
c.1611C>A (p.Asn537Lys)
c.1683C>A (p.Asn561Lys)
c.1767C>A (p.Asn589Lys)
c.1605C>A (p.Asn535Lys)
c.1392C>A (p.Asn464Lys)
c.1569C>A (p.Asn523Lys)
c.*908C>A (n.*908C>A)
c.1509C>A (p.Asn503Lys)
c.*1041C>A (n.*1041C>A)
c.1324C>A (n.1324C>A)
c.*1006C>A (n.*1006C>A)
c.1587C>A (p.Asn529Lys)
c.*867C>A (n.*867C>A)
c.1695C>A (p.Asn565Lys)
c.1017C>A (p.Asn339Lys)
c.1602C>A (p.Asn534Lys)
c.1471C>A (n.1471C>A)
c.279C>A (p.Asn93Lys)
c.852C>A (p.Asn284Lys)
c.1530C>A (p.Asn510Lys)
c.1653C>A (p.Asn551Lys)
c.927C>A (p.Asn309Lys)
c.1533C>A (p.Asn511Lys)
n.2423+2561G>T
n.1892C>A
 gnomAD v4
10g.18539508C=CA1894173676CACNB2,NSUN6c.1623C= (p.Asn541=)
c.1488C= (p.Asn496=)
c.1611C= (p.Asn537=)
c.1683C= (p.Asn561=)
c.1767C= (p.Asn589=)
c.1605C= (p.Asn535=)
c.1392C= (p.Asn464=)
c.1569C= (p.Asn523=)
c.*908C= (n.*908C=)
c.1509C= (p.Asn503=)
c.*1041C= (n.*1041C=)
c.1324C= (n.1324C=)
c.*1006C= (n.*1006C=)
c.1587C= (p.Asn529=)
c.*867C= (n.*867C=)
c.1695C= (p.Asn565=)
c.1017C= (p.Asn339=)
c.1602C= (p.Asn534=)
c.1471C= (n.1471C=)
c.279C= (p.Asn93=)
c.852C= (p.Asn284=)
c.1530C= (p.Asn510=)
c.1653C= (p.Asn551=)
c.927C= (p.Asn309=)
c.1533C= (p.Asn511=)
n.2423+2561G=
n.1892C=
10g.18539508C>GCA203167295CACNB2,NSUN6c.1623C>G (p.Asn541Lys)
c.1488C>G (p.Asn496Lys)
c.1611C>G (p.Asn537Lys)
c.1683C>G (p.Asn561Lys)
c.1767C>G (p.Asn589Lys)
c.1605C>G (p.Asn535Lys)
c.1392C>G (p.Asn464Lys)
c.1569C>G (p.Asn523Lys)
c.*908C>G (n.*908C>G)
c.1509C>G (p.Asn503Lys)
c.*1041C>G (n.*1041C>G)
c.1324C>G (n.1324C>G)
c.*1006C>G (n.*1006C>G)
c.1587C>G (p.Asn529Lys)
c.*867C>G (n.*867C>G)
c.1695C>G (p.Asn565Lys)
c.1017C>G (p.Asn339Lys)
c.1602C>G (p.Asn534Lys)
c.1471C>G (n.1471C>G)
c.279C>G (p.Asn93Lys)
c.852C>G (p.Asn284Lys)
c.1530C>G (p.Asn510Lys)
c.1653C>G (p.Asn551Lys)
c.927C>G (p.Asn309Lys)
c.1533C>G (p.Asn511Lys)
n.2423+2561G>C
n.1892C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.18539508C>TCA468629796CACNB2,NSUN6c.1623C>T (p.Asn541=)
c.1488C>T (p.Asn496=)
c.1611C>T (p.Asn537=)
c.1683C>T (p.Asn561=)
c.1767C>T (p.Asn589=)
c.1605C>T (p.Asn535=)
c.1392C>T (p.Asn464=)
c.1569C>T (p.Asn523=)
c.*908C>T (n.*908C>T)
c.1509C>T (p.Asn503=)
c.*1041C>T (n.*1041C>T)
c.1324C>T (n.1324C>T)
c.*1006C>T (n.*1006C>T)
c.1587C>T (p.Asn529=)
c.*867C>T (n.*867C>T)
c.1695C>T (p.Asn565=)
c.1017C>T (p.Asn339=)
c.1602C>T (p.Asn534=)
c.1471C>T (n.1471C>T)
c.279C>T (p.Asn93=)
c.852C>T (p.Asn284=)
c.1530C>T (p.Asn510=)
c.1653C>T (p.Asn551=)
c.927C>T (p.Asn309=)
c.1533C>T (p.Asn511=)
n.2423+2561G>A
n.1892C>T
 dbSNP gnomAD v4
10g.18539509C>ACA5430163CACNB2,NSUN6c.1624C>A (p.His542Asn)
c.1489C>A (p.His497Asn)
c.1612C>A (p.His538Asn)
c.1684C>A (p.His562Asn)
c.1768C>A (p.His590Asn)
c.1606C>A (p.His536Asn)
c.1393C>A (p.His465Asn)
c.1570C>A (p.His524Asn)
c.*909C>A (n.*909C>A)
c.1510C>A (p.His504Asn)
c.*1042C>A (n.*1042C>A)
c.1325C>A (n.1325C>A)
c.*1007C>A (n.*1007C>A)
c.1588C>A (p.His530Asn)
c.*868C>A (n.*868C>A)
c.1696C>A (p.His566Asn)
c.1018C>A (p.His340Asn)
c.1603C>A (p.His535Asn)
c.1472C>A (n.1472C>A)
c.280C>A (p.His94Asn)
c.853C>A (p.His285Asn)
c.1531C>A (p.His511Asn)
c.1654C>A (p.His552Asn)
c.928C>A (p.His310Asn)
c.1534C>A (p.His512Asn)
n.2423+2560G>T
n.1893C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539509C=CA1894173686CACNB2,NSUN6c.1624C= (p.His542=)
c.1489C= (p.His497=)
c.1612C= (p.His538=)
c.1684C= (p.His562=)
c.1768C= (p.His590=)
c.1606C= (p.His536=)
c.1393C= (p.His465=)
c.1570C= (p.His524=)
c.*909C= (n.*909C=)
c.1510C= (p.His504=)
c.*1042C= (n.*1042C=)
c.1325C= (n.1325C=)
c.*1007C= (n.*1007C=)
c.1588C= (p.His530=)
c.*868C= (n.*868C=)
c.1696C= (p.His566=)
c.1018C= (p.His340=)
c.1603C= (p.His535=)
c.1472C= (n.1472C=)
c.280C= (p.His94=)
c.853C= (p.His285=)
c.1531C= (p.His511=)
c.1654C= (p.His552=)
c.928C= (p.His310=)
c.1534C= (p.His512=)
n.2423+2560G=
n.1893C=
10g.18539509C>GCA376072110CACNB2,NSUN6c.1624C>G (p.His542Asp)
c.1489C>G (p.His497Asp)
c.1612C>G (p.His538Asp)
c.1684C>G (p.His562Asp)
c.1768C>G (p.His590Asp)
c.1606C>G (p.His536Asp)
c.1393C>G (p.His465Asp)
c.1570C>G (p.His524Asp)
c.*909C>G (n.*909C>G)
c.1510C>G (p.His504Asp)
c.*1042C>G (n.*1042C>G)
c.1325C>G (n.1325C>G)
c.*1007C>G (n.*1007C>G)
c.1588C>G (p.His530Asp)
c.*868C>G (n.*868C>G)
c.1696C>G (p.His566Asp)
c.1018C>G (p.His340Asp)
c.1603C>G (p.His535Asp)
c.1472C>G (n.1472C>G)
c.280C>G (p.His94Asp)
c.853C>G (p.His285Asp)
c.1531C>G (p.His511Asp)
c.1654C>G (p.His552Asp)
c.928C>G (p.His310Asp)
c.1534C>G (p.His512Asp)
n.2423+2560G>C
n.1893C>G
10g.18539509C>TCA376072107CACNB2,NSUN6c.1624C>T (p.His542Tyr)
c.1489C>T (p.His497Tyr)
c.1612C>T (p.His538Tyr)
c.1684C>T (p.His562Tyr)
c.1768C>T (p.His590Tyr)
c.1606C>T (p.His536Tyr)
c.1393C>T (p.His465Tyr)
c.1570C>T (p.His524Tyr)
c.*909C>T (n.*909C>T)
c.1510C>T (p.His504Tyr)
c.*1042C>T (n.*1042C>T)
c.1325C>T (n.1325C>T)
c.*1007C>T (n.*1007C>T)
c.1588C>T (p.His530Tyr)
c.*868C>T (n.*868C>T)
c.1696C>T (p.His566Tyr)
c.1018C>T (p.His340Tyr)
c.1603C>T (p.His535Tyr)
c.1472C>T (n.1472C>T)
c.280C>T (p.His94Tyr)
c.853C>T (p.His285Tyr)
c.1531C>T (p.His511Tyr)
c.1654C>T (p.His552Tyr)
c.928C>T (p.His310Tyr)
c.1534C>T (p.His512Tyr)
n.2423+2560G>A
n.1893C>T
10g.18539510A=CA1894173696CACNB2,NSUN6c.1625A= (p.His542=)
c.1490A= (p.His497=)
c.1613A= (p.His538=)
c.1685A= (p.His562=)
c.1769A= (p.His590=)
c.1607A= (p.His536=)
c.1394A= (p.His465=)
c.1571A= (p.His524=)
c.*910A= (n.*910A=)
c.1511A= (p.His504=)
c.*1043A= (n.*1043A=)
c.1326A= (n.1326A=)
c.*1008A= (n.*1008A=)
c.1589A= (p.His530=)
c.*869A= (n.*869A=)
c.1697A= (p.His566=)
c.1019A= (p.His340=)
c.1604A= (p.His535=)
c.1473A= (n.1473A=)
c.281A= (p.His94=)
c.854A= (p.His285=)
c.1532A= (p.His511=)
c.1655A= (p.His552=)
c.929A= (p.His310=)
c.1535A= (p.His512=)
n.2423+2559T=
n.1894A=
10g.18539510A>CCA376072111CACNB2,NSUN6c.1625A>C (p.His542Pro)
c.1490A>C (p.His497Pro)
c.1613A>C (p.His538Pro)
c.1685A>C (p.His562Pro)
c.1769A>C (p.His590Pro)
c.1607A>C (p.His536Pro)
c.1394A>C (p.His465Pro)
c.1571A>C (p.His524Pro)
c.*910A>C (n.*910A>C)
c.1511A>C (p.His504Pro)
c.*1043A>C (n.*1043A>C)
c.1326A>C (n.1326A>C)
c.*1008A>C (n.*1008A>C)
c.1589A>C (p.His530Pro)
c.*869A>C (n.*869A>C)
c.1697A>C (p.His566Pro)
c.1019A>C (p.His340Pro)
c.1604A>C (p.His535Pro)
c.1473A>C (n.1473A>C)
c.281A>C (p.His94Pro)
c.854A>C (p.His285Pro)
c.1532A>C (p.His511Pro)
c.1655A>C (p.His552Pro)
c.929A>C (p.His310Pro)
c.1535A>C (p.His512Pro)
n.2423+2559T>G
n.1894A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.18539510A>GCA376072113CACNB2,NSUN6c.1625A>G (p.His542Arg)
c.1490A>G (p.His497Arg)
c.1613A>G (p.His538Arg)
c.1685A>G (p.His562Arg)
c.1769A>G (p.His590Arg)
c.1607A>G (p.His536Arg)
c.1394A>G (p.His465Arg)
c.1571A>G (p.His524Arg)
c.*910A>G (n.*910A>G)
c.1511A>G (p.His504Arg)
c.*1043A>G (n.*1043A>G)
c.1326A>G (n.1326A>G)
c.*1008A>G (n.*1008A>G)
c.1589A>G (p.His530Arg)
c.*869A>G (n.*869A>G)
c.1697A>G (p.His566Arg)
c.1019A>G (p.His340Arg)
c.1604A>G (p.His535Arg)
c.1473A>G (n.1473A>G)
c.281A>G (p.His94Arg)
c.854A>G (p.His285Arg)
c.1532A>G (p.His511Arg)
c.1655A>G (p.His552Arg)
c.929A>G (p.His310Arg)
c.1535A>G (p.His512Arg)
n.2423+2559T>C
n.1894A>G
 gnomAD v4
10g.18539510A>TCA376072115CACNB2,NSUN6c.1625A>T (p.His542Leu)
c.1490A>T (p.His497Leu)
c.1613A>T (p.His538Leu)
c.1685A>T (p.His562Leu)
c.1769A>T (p.His590Leu)
c.1607A>T (p.His536Leu)
c.1394A>T (p.His465Leu)
c.1571A>T (p.His524Leu)
c.*910A>T (n.*910A>T)
c.1511A>T (p.His504Leu)
c.*1043A>T (n.*1043A>T)
c.1326A>T (n.1326A>T)
c.*1008A>T (n.*1008A>T)
c.1589A>T (p.His530Leu)
c.*869A>T (n.*869A>T)
c.1697A>T (p.His566Leu)
c.1019A>T (p.His340Leu)
c.1604A>T (p.His535Leu)
c.1473A>T (n.1473A>T)
c.281A>T (p.His94Leu)
c.854A>T (p.His285Leu)
c.1532A>T (p.His511Leu)
c.1655A>T (p.His552Leu)
c.929A>T (p.His310Leu)
c.1535A>T (p.His512Leu)
n.2423+2559T>A
n.1894A>T
10g.18539511C>ACA376072117CACNB2,NSUN6c.1626C>A (p.His542Gln)
c.1491C>A (p.His497Gln)
c.1614C>A (p.His538Gln)
c.1686C>A (p.His562Gln)
c.1770C>A (p.His590Gln)
c.1608C>A (p.His536Gln)
c.1395C>A (p.His465Gln)
c.1572C>A (p.His524Gln)
c.*911C>A (n.*911C>A)
c.1512C>A (p.His504Gln)
c.*1044C>A (n.*1044C>A)
c.1327C>A (n.1327C>A)
c.*1009C>A (n.*1009C>A)
c.1590C>A (p.His530Gln)
c.*870C>A (n.*870C>A)
c.1698C>A (p.His566Gln)
c.1020C>A (p.His340Gln)
c.1605C>A (p.His535Gln)
c.1474C>A (n.1474C>A)
c.282C>A (p.His94Gln)
c.855C>A (p.His285Gln)
c.1533C>A (p.His511Gln)
c.1656C>A (p.His552Gln)
c.930C>A (p.His310Gln)
c.1536C>A (p.His512Gln)
n.2423+2558G>T
n.1895C>A
10g.18539511C>GCA376072121CACNB2,NSUN6c.1626C>G (p.His542Gln)
c.1491C>G (p.His497Gln)
c.1614C>G (p.His538Gln)
c.1686C>G (p.His562Gln)
c.1770C>G (p.His590Gln)
c.1608C>G (p.His536Gln)
c.1395C>G (p.His465Gln)
c.1572C>G (p.His524Gln)
c.*911C>G (n.*911C>G)
c.1512C>G (p.His504Gln)
c.*1044C>G (n.*1044C>G)
c.1327C>G (n.1327C>G)
c.*1009C>G (n.*1009C>G)
c.1590C>G (p.His530Gln)
c.*870C>G (n.*870C>G)
c.1698C>G (p.His566Gln)
c.1020C>G (p.His340Gln)
c.1605C>G (p.His535Gln)
c.1474C>G (n.1474C>G)
c.282C>G (p.His94Gln)
c.855C>G (p.His285Gln)
c.1533C>G (p.His511Gln)
c.1656C>G (p.His552Gln)
c.930C>G (p.His310Gln)
c.1536C>G (p.His512Gln)
n.2423+2558G>C
n.1895C>G
10g.18539511C>TCA468629815CACNB2,NSUN6c.1626C>T (p.His542=)
c.1491C>T (p.His497=)
c.1614C>T (p.His538=)
c.1686C>T (p.His562=)
c.1770C>T (p.His590=)
c.1608C>T (p.His536=)
c.1395C>T (p.His465=)
c.1572C>T (p.His524=)
c.*911C>T (n.*911C>T)
c.1512C>T (p.His504=)
c.*1044C>T (n.*1044C>T)
c.1327C>T (n.1327C>T)
c.*1009C>T (n.*1009C>T)
c.1590C>T (p.His530=)
c.*870C>T (n.*870C>T)
c.1698C>T (p.His566=)
c.1020C>T (p.His340=)
c.1605C>T (p.His535=)
c.1474C>T (n.1474C>T)
c.282C>T (p.His94=)
c.855C>T (p.His285=)
c.1533C>T (p.His511=)
c.1656C>T (p.His552=)
c.930C>T (p.His310=)
c.1536C>T (p.His512=)
n.2423+2558G>A
n.1895C>T
10g.18539511_18539513delinsCAGCA1894173699CACNB2,NSUN6c.1626_1628delinsCAG (p.His542=)
c.1491_1493delinsCAG (p.His497=)
c.1614_1616delinsCAG (p.His538=)
c.1686_1688delinsCAG (p.His562=)
c.1770_1772delinsCAG (p.His590=)
c.1608_1610delinsCAG (p.His536=)
c.1395_1397delinsCAG (p.His465=)
c.1572_1574delinsCAG (p.His524=)
c.*911_*913delinsCAG (n.*911_*913delinsCAG)
c.1512_1514delinsCAG (p.His504=)
c.*1044_*1046delinsCAG (n.*1044_*1046delinsCAG)
c.1327_1329delinsCAG (n.1327_1329delinsCAG)
c.*1009_*1011delinsCAG (n.*1009_*1011delinsCAG)
c.1590_1592delinsCAG (p.His530=)
c.*870_*872delinsCAG (n.*870_*872delinsCAG)
c.1698_1700delinsCAG (p.His566=)
c.1020_1022delinsCAG (p.His340=)
c.1605_1607delinsCAG (p.His535=)
c.1474_1476delinsCAG (n.1474_1476delinsCAG)
c.282_284delinsCAG (p.His94=)
c.855_857delinsCAG (p.His285=)
c.1533_1535delinsCAG (p.His511=)
c.1656_1658delinsCAG (p.His552=)
c.930_932delinsCAG (p.His310=)
c.1536_1538delinsCAG (p.His512=)
n.2423+2556_2423+2558delinsCTG
n.1895_1897delinsCAG
10g.18539512A=CA1894173712CACNB2,NSUN6c.1627A= (p.Arg543=)
c.1492A= (p.Arg498=)
c.1615A= (p.Arg539=)
c.1687A= (p.Arg563=)
c.1771A= (p.Arg591=)
c.1609A= (p.Arg537=)
c.1396A= (p.Arg466=)
c.1573A= (p.Arg525=)
c.*912A= (n.*912A=)
c.1513A= (p.Arg505=)
c.*1045A= (n.*1045A=)
c.1328A= (n.1328A=)
c.*1010A= (n.*1010A=)
c.1591A= (p.Arg531=)
c.*871A= (n.*871A=)
c.1699A= (p.Arg567=)
c.1021A= (p.Arg341=)
c.1606A= (p.Arg536=)
c.1475A= (n.1475A=)
c.283A= (p.Arg95=)
c.856A= (p.Arg286=)
c.1534A= (p.Arg512=)
c.1657A= (p.Arg553=)
c.931A= (p.Arg311=)
c.1537A= (p.Arg513=)
n.2423+2557T=
n.1896A=
10g.18539512A>CCA468629829CACNB2,NSUN6c.1627A>C (p.Arg543=)
c.1492A>C (p.Arg498=)
c.1615A>C (p.Arg539=)
c.1687A>C (p.Arg563=)
c.1771A>C (p.Arg591=)
c.1609A>C (p.Arg537=)
c.1396A>C (p.Arg466=)
c.1573A>C (p.Arg525=)
c.*912A>C (n.*912A>C)
c.1513A>C (p.Arg505=)
c.*1045A>C (n.*1045A>C)
c.1328A>C (n.1328A>C)
c.*1010A>C (n.*1010A>C)
c.1591A>C (p.Arg531=)
c.*871A>C (n.*871A>C)
c.1699A>C (p.Arg567=)
c.1021A>C (p.Arg341=)
c.1606A>C (p.Arg536=)
c.1475A>C (n.1475A>C)
c.283A>C (p.Arg95=)
c.856A>C (p.Arg286=)
c.1534A>C (p.Arg512=)
c.1657A>C (p.Arg553=)
c.931A>C (p.Arg311=)
c.1537A>C (p.Arg513=)
n.2423+2557T>G
n.1896A>C
10g.18539512A>GCA376072123CACNB2,NSUN6c.1627A>G (p.Arg543Gly)
c.1492A>G (p.Arg498Gly)
c.1615A>G (p.Arg539Gly)
c.1687A>G (p.Arg563Gly)
c.1771A>G (p.Arg591Gly)
c.1609A>G (p.Arg537Gly)
c.1396A>G (p.Arg466Gly)
c.1573A>G (p.Arg525Gly)
c.*912A>G (n.*912A>G)
c.1513A>G (p.Arg505Gly)
c.*1045A>G (n.*1045A>G)
c.1328A>G (n.1328A>G)
c.*1010A>G (n.*1010A>G)
c.1591A>G (p.Arg531Gly)
c.*871A>G (n.*871A>G)
c.1699A>G (p.Arg567Gly)
c.1021A>G (p.Arg341Gly)
c.1606A>G (p.Arg536Gly)
c.1475A>G (n.1475A>G)
c.283A>G (p.Arg95Gly)
c.856A>G (p.Arg286Gly)
c.1534A>G (p.Arg512Gly)
c.1657A>G (p.Arg553Gly)
c.931A>G (p.Arg311Gly)
c.1537A>G (p.Arg513Gly)
n.2423+2557T>C
n.1896A>G
 gnomAD v4
10g.18539512A>TCA376072127CACNB2,NSUN6c.1627A>T (p.Arg543Ter)
c.1492A>T (p.Arg498Ter)
c.1615A>T (p.Arg539Ter)
c.1687A>T (p.Arg563Ter)
c.1771A>T (p.Arg591Ter)
c.1609A>T (p.Arg537Ter)
c.1396A>T (p.Arg466Ter)
c.1573A>T (p.Arg525Ter)
c.*912A>T (n.*912A>T)
c.1513A>T (p.Arg505Ter)
c.*1045A>T (n.*1045A>T)
c.1328A>T (n.1328A>T)
c.*1010A>T (n.*1010A>T)
c.1591A>T (p.Arg531Ter)
c.*871A>T (n.*871A>T)
c.1699A>T (p.Arg567Ter)
c.1021A>T (p.Arg341Ter)
c.1606A>T (p.Arg536Ter)
c.1475A>T (n.1475A>T)
c.283A>T (p.Arg95Ter)
c.856A>T (p.Arg286Ter)
c.1534A>T (p.Arg512Ter)
c.1657A>T (p.Arg553Ter)
c.931A>T (p.Arg311Ter)
c.1537A>T (p.Arg513Ter)
n.2423+2557T>A
n.1896A>T
 dbSNP
10g.18539513_18539516dupCA5430164CACNB2,NSUN6c.1628_1631dup (p.Asp544GlufsTer9)
c.1493_1496dup (p.Asp499GlufsTer9)
c.1616_1619dup (p.Asp540GlufsTer9)
c.1688_1691dup (p.Asp564GlufsTer9)
c.1772_1775dup (p.Asp592GlufsTer9)
c.1610_1613dup (p.Asp538GlufsTer9)
c.1397_1400dup (p.Asp467GlufsTer9)
c.1574_1577dup (p.Asp526GlufsTer9)
c.*913_*916dup (n.*913_*916dup)
c.1514_1517dup (p.Asp506GlufsTer9)
c.*1046_*1049dup (n.*1046_*1049dup)
c.1329_1332dup (n.1329_1332dup)
c.*1011_*1014dup (n.*1011_*1014dup)
c.1592_1595dup (p.Asp532GlufsTer9)
c.*872_*875dup (n.*872_*875dup)
c.1700_1703dup (p.Asp568GlufsTer9)
c.1022_1025dup (p.Asp342GlufsTer9)
c.1607_1610dup (p.Asp537GlufsTer9)
c.1476_1479dup (n.1476_1479dup)
c.284_287dup (p.Asp96GlufsTer9)
c.857_860dup (p.Asp287GlufsTer9)
c.1535_1538dup (p.Asp513GlufsTer9)
c.1658_1661dup (p.Asp554GlufsTer9)
c.932_935dup (p.Asp312GlufsTer9)
c.1538_1541dup (p.Asp514GlufsTer9)
n.2423+2554_2423+2557dup
n.1897_1900dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539515_18539516delCA5430165CACNB2,NSUN6c.1630_1631del (p.Asp544ArgfsTer7)
c.1495_1496del (p.Asp499ArgfsTer7)
c.1618_1619del (p.Asp540ArgfsTer7)
c.1690_1691del (p.Asp564ArgfsTer7)
c.1774_1775del (p.Asp592ArgfsTer7)
c.1612_1613del (p.Asp538ArgfsTer7)
c.1399_1400del (p.Asp467ArgfsTer7)
c.1576_1577del (p.Asp526ArgfsTer7)
c.*915_*916del (n.*915_*916del)
c.1516_1517del (p.Asp506ArgfsTer7)
c.*1048_*1049del (n.*1048_*1049del)
c.1331_1332del (n.1331_1332del)
c.*1013_*1014del (n.*1013_*1014del)
c.1594_1595del (p.Asp532ArgfsTer7)
c.*874_*875del (n.*874_*875del)
c.1702_1703del (p.Asp568ArgfsTer7)
c.1024_1025del (p.Asp342ArgfsTer7)
c.1609_1610del (p.Asp537ArgfsTer7)
c.1478_1479del (n.1478_1479del)
c.286_287del (p.Asp96ArgfsTer7)
c.859_860del (p.Asp287ArgfsTer7)
c.1537_1538del (p.Asp513ArgfsTer7)
c.1660_1661del (p.Asp554ArgfsTer7)
c.934_935del (p.Asp312ArgfsTer7)
c.1540_1541del (p.Asp514ArgfsTer7)
n.2423+2556_2423+2557del
n.1899_1900del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539513G>ACA376072133CACNB2,NSUN6c.1628G>A (p.Arg543Lys)
c.1493G>A (p.Arg498Lys)
c.1616G>A (p.Arg539Lys)
c.1688G>A (p.Arg563Lys)
c.1772G>A (p.Arg591Lys)
c.1610G>A (p.Arg537Lys)
c.1397G>A (p.Arg466Lys)
c.1574G>A (p.Arg525Lys)
c.*913G>A (n.*913G>A)
c.1514G>A (p.Arg505Lys)
c.*1046G>A (n.*1046G>A)
c.1329G>A (n.1329G>A)
c.*1011G>A (n.*1011G>A)
c.1592G>A (p.Arg531Lys)
c.*872G>A (n.*872G>A)
c.1700G>A (p.Arg567Lys)
c.1022G>A (p.Arg341Lys)
c.1607G>A (p.Arg536Lys)
c.1476G>A (n.1476G>A)
c.284G>A (p.Arg95Lys)
c.857G>A (p.Arg286Lys)
c.1535G>A (p.Arg512Lys)
c.1658G>A (p.Arg553Lys)
c.932G>A (p.Arg311Lys)
c.1538G>A (p.Arg513Lys)
n.2423+2556C>T
n.1897G>A
10g.18539513G>CCA376072142CACNB2,NSUN6c.1628G>C (p.Arg543Thr)
c.1493G>C (p.Arg498Thr)
c.1616G>C (p.Arg539Thr)
c.1688G>C (p.Arg563Thr)
c.1772G>C (p.Arg591Thr)
c.1610G>C (p.Arg537Thr)
c.1397G>C (p.Arg466Thr)
c.1574G>C (p.Arg525Thr)
c.*913G>C (n.*913G>C)
c.1514G>C (p.Arg505Thr)
c.*1046G>C (n.*1046G>C)
c.1329G>C (n.1329G>C)
c.*1011G>C (n.*1011G>C)
c.1592G>C (p.Arg531Thr)
c.*872G>C (n.*872G>C)
c.1700G>C (p.Arg567Thr)
c.1022G>C (p.Arg341Thr)
c.1607G>C (p.Arg536Thr)
c.1476G>C (n.1476G>C)
c.284G>C (p.Arg95Thr)
c.857G>C (p.Arg286Thr)
c.1535G>C (p.Arg512Thr)
c.1658G>C (p.Arg553Thr)
c.932G>C (p.Arg311Thr)
c.1538G>C (p.Arg513Thr)
n.2423+2556C>G
n.1897G>C
10g.18539513G>TCA376072143CACNB2,NSUN6c.1628G>T (p.Arg543Ile)
c.1493G>T (p.Arg498Ile)
c.1616G>T (p.Arg539Ile)
c.1688G>T (p.Arg563Ile)
c.1772G>T (p.Arg591Ile)
c.1610G>T (p.Arg537Ile)
c.1397G>T (p.Arg466Ile)
c.1574G>T (p.Arg525Ile)
c.*913G>T (n.*913G>T)
c.1514G>T (p.Arg505Ile)
c.*1046G>T (n.*1046G>T)
c.1329G>T (n.1329G>T)
c.*1011G>T (n.*1011G>T)
c.1592G>T (p.Arg531Ile)
c.*872G>T (n.*872G>T)
c.1700G>T (p.Arg567Ile)
c.1022G>T (p.Arg341Ile)
c.1607G>T (p.Arg536Ile)
c.1476G>T (n.1476G>T)
c.284G>T (p.Arg95Ile)
c.857G>T (p.Arg286Ile)
c.1535G>T (p.Arg512Ile)
c.1658G>T (p.Arg553Ile)
c.932G>T (p.Arg311Ile)
c.1538G>T (p.Arg513Ile)
n.2423+2556C>A
n.1897G>T
10g.18539514A=CA1894173716CACNB2,NSUN6c.1629A= (p.Arg543=)
c.1494A= (p.Arg498=)
c.1617A= (p.Arg539=)
c.1689A= (p.Arg563=)
c.1773A= (p.Arg591=)
c.1611A= (p.Arg537=)
c.1398A= (p.Arg466=)
c.1575A= (p.Arg525=)
c.*914A= (n.*914A=)
c.1515A= (p.Arg505=)
c.*1047A= (n.*1047A=)
c.1330A= (n.1330A=)
c.*1012A= (n.*1012A=)
c.1593A= (p.Arg531=)
c.*873A= (n.*873A=)
c.1701A= (p.Arg567=)
c.1023A= (p.Arg341=)
c.1608A= (p.Arg536=)
c.1477A= (n.1477A=)
c.285A= (p.Arg95=)
c.858A= (p.Arg286=)
c.1536A= (p.Arg512=)
c.1659A= (p.Arg553=)
c.933A= (p.Arg311=)
c.1539A= (p.Arg513=)
n.2423+2555T=
n.1898A=
10g.18539514A>CCA376072146CACNB2,NSUN6c.1629A>C (p.Arg543Ser)
c.1494A>C (p.Arg498Ser)
c.1617A>C (p.Arg539Ser)
c.1689A>C (p.Arg563Ser)
c.1773A>C (p.Arg591Ser)
c.1611A>C (p.Arg537Ser)
c.1398A>C (p.Arg466Ser)
c.1575A>C (p.Arg525Ser)
c.*914A>C (n.*914A>C)
c.1515A>C (p.Arg505Ser)
c.*1047A>C (n.*1047A>C)
c.1330A>C (n.1330A>C)
c.*1012A>C (n.*1012A>C)
c.1593A>C (p.Arg531Ser)
c.*873A>C (n.*873A>C)
c.1701A>C (p.Arg567Ser)
c.1023A>C (p.Arg341Ser)
c.1608A>C (p.Arg536Ser)
c.1477A>C (n.1477A>C)
c.285A>C (p.Arg95Ser)
c.858A>C (p.Arg286Ser)
c.1536A>C (p.Arg512Ser)
c.1659A>C (p.Arg553Ser)
c.933A>C (p.Arg311Ser)
c.1539A>C (p.Arg513Ser)
n.2423+2555T>G
n.1898A>C
10g.18539514A>GCA468629858CACNB2,NSUN6c.1629A>G (p.Arg543=)
c.1494A>G (p.Arg498=)
c.1617A>G (p.Arg539=)
c.1689A>G (p.Arg563=)
c.1773A>G (p.Arg591=)
c.1611A>G (p.Arg537=)
c.1398A>G (p.Arg466=)
c.1575A>G (p.Arg525=)
c.*914A>G (n.*914A>G)
c.1515A>G (p.Arg505=)
c.*1047A>G (n.*1047A>G)
c.1330A>G (n.1330A>G)
c.*1012A>G (n.*1012A>G)
c.1593A>G (p.Arg531=)
c.*873A>G (n.*873A>G)
c.1701A>G (p.Arg567=)
c.1023A>G (p.Arg341=)
c.1608A>G (p.Arg536=)
c.1477A>G (n.1477A>G)
c.285A>G (p.Arg95=)
c.858A>G (p.Arg286=)
c.1536A>G (p.Arg512=)
c.1659A>G (p.Arg553=)
c.933A>G (p.Arg311=)
c.1539A>G (p.Arg513=)
n.2423+2555T>C
n.1898A>G
 dbSNP gnomAD v3 gnomAD v4
10g.18539514A>TCA376072144CACNB2,NSUN6c.1629A>T (p.Arg543Ser)
c.1494A>T (p.Arg498Ser)
c.1617A>T (p.Arg539Ser)
c.1689A>T (p.Arg563Ser)
c.1773A>T (p.Arg591Ser)
c.1611A>T (p.Arg537Ser)
c.1398A>T (p.Arg466Ser)
c.1575A>T (p.Arg525Ser)
c.*914A>T (n.*914A>T)
c.1515A>T (p.Arg505Ser)
c.*1047A>T (n.*1047A>T)
c.1330A>T (n.1330A>T)
c.*1012A>T (n.*1012A>T)
c.1593A>T (p.Arg531Ser)
c.*873A>T (n.*873A>T)
c.1701A>T (p.Arg567Ser)
c.1023A>T (p.Arg341Ser)
c.1608A>T (p.Arg536Ser)
c.1477A>T (n.1477A>T)
c.285A>T (p.Arg95Ser)
c.858A>T (p.Arg286Ser)
c.1536A>T (p.Arg512Ser)
c.1659A>T (p.Arg553Ser)
c.933A>T (p.Arg311Ser)
c.1539A>T (p.Arg513Ser)
n.2423+2555T>A
n.1898A>T
10g.18539514_18539522dupCA2608435631CACNB2,NSUN6c.1629_1637dup (p.Thr546_His547insAspGluThr)
c.1494_1502dup (p.Thr501_His502insAspGluThr)
c.1617_1625dup (p.Thr542_His543insAspGluThr)
c.1689_1697dup (p.Thr566_His567insAspGluThr)
c.1773_1781dup (p.Thr594_His595insAspGluThr)
c.1611_1619dup (p.Thr540_His541insAspGluThr)
c.1398_1406dup (p.Thr469_His470insAspGluThr)
c.1575_1583dup (p.Thr528_His529insAspGluThr)
c.*914_*922dup (n.*914_*922dup)
c.1515_1523dup (p.Thr508_His509insAspGluThr)
c.*1047_*1055dup (n.*1047_*1055dup)
c.1330_1338dup (n.1330_1338dup)
c.*1012_*1020dup (n.*1012_*1020dup)
c.1593_1601dup (p.Thr534_His535insAspGluThr)
c.*873_*881dup (n.*873_*881dup)
c.1701_1709dup (p.Thr570_His571insAspGluThr)
c.1023_1031dup (p.Thr344_His345insAspGluThr)
c.1608_1616dup (p.Thr539_His540insAspGluThr)
c.1477_1485dup (n.1477_1485dup)
c.285_293dup (p.Thr98_His99insAspGluThr)
c.858_866dup (p.Thr289_His290insAspGluThr)
c.1536_1544dup (p.Thr515_His516insAspGluThr)
c.1659_1667dup (p.Thr556_His557insAspGluThr)
c.933_941dup (p.Thr314_His315insAspGluThr)
c.1539_1547dup (p.Thr516_His517insAspGluThr)
n.2423+2547_2423+2555dup
n.1898_1906dup
 gnomAD v4
10g.18539515G>ACA376072147CACNB2,NSUN6c.1630G>A (p.Asp544Asn)
c.1495G>A (p.Asp499Asn)
c.1618G>A (p.Asp540Asn)
c.1690G>A (p.Asp564Asn)
c.1774G>A (p.Asp592Asn)
c.1612G>A (p.Asp538Asn)
c.1399G>A (p.Asp467Asn)
c.1576G>A (p.Asp526Asn)
c.*915G>A (n.*915G>A)
c.1516G>A (p.Asp506Asn)
c.*1048G>A (n.*1048G>A)
c.1331G>A (n.1331G>A)
c.*1013G>A (n.*1013G>A)
c.1594G>A (p.Asp532Asn)
c.*874G>A (n.*874G>A)
c.1702G>A (p.Asp568Asn)
c.1024G>A (p.Asp342Asn)
c.1609G>A (p.Asp537Asn)
c.1478G>A (n.1478G>A)
c.286G>A (p.Asp96Asn)
c.859G>A (p.Asp287Asn)
c.1537G>A (p.Asp513Asn)
c.1660G>A (p.Asp554Asn)
c.934G>A (p.Asp312Asn)
c.1540G>A (p.Asp514Asn)
n.2423+2554C>T
n.1899G>A
10g.18539515G>CCA376072149CACNB2,NSUN6c.1630G>C (p.Asp544His)
c.1495G>C (p.Asp499His)
c.1618G>C (p.Asp540His)
c.1690G>C (p.Asp564His)
c.1774G>C (p.Asp592His)
c.1612G>C (p.Asp538His)
c.1399G>C (p.Asp467His)
c.1576G>C (p.Asp526His)
c.*915G>C (n.*915G>C)
c.1516G>C (p.Asp506His)
c.*1048G>C (n.*1048G>C)
c.1331G>C (n.1331G>C)
c.*1013G>C (n.*1013G>C)
c.1594G>C (p.Asp532His)
c.*874G>C (n.*874G>C)
c.1702G>C (p.Asp568His)
c.1024G>C (p.Asp342His)
c.1609G>C (p.Asp537His)
c.1478G>C (n.1478G>C)
c.286G>C (p.Asp96His)
c.859G>C (p.Asp287His)
c.1537G>C (p.Asp513His)
c.1660G>C (p.Asp554His)
c.934G>C (p.Asp312His)
c.1540G>C (p.Asp514His)
n.2423+2554C>G
n.1899G>C
 gnomAD v4
10g.18539515G>TCA376072152CACNB2,NSUN6c.1630G>T (p.Asp544Tyr)
c.1495G>T (p.Asp499Tyr)
c.1618G>T (p.Asp540Tyr)
c.1690G>T (p.Asp564Tyr)
c.1774G>T (p.Asp592Tyr)
c.1612G>T (p.Asp538Tyr)
c.1399G>T (p.Asp467Tyr)
c.1576G>T (p.Asp526Tyr)
c.*915G>T (n.*915G>T)
c.1516G>T (p.Asp506Tyr)
c.*1048G>T (n.*1048G>T)
c.1331G>T (n.1331G>T)
c.*1013G>T (n.*1013G>T)
c.1594G>T (p.Asp532Tyr)
c.*874G>T (n.*874G>T)
c.1702G>T (p.Asp568Tyr)
c.1024G>T (p.Asp342Tyr)
c.1609G>T (p.Asp537Tyr)
c.1478G>T (n.1478G>T)
c.286G>T (p.Asp96Tyr)
c.859G>T (p.Asp287Tyr)
c.1537G>T (p.Asp513Tyr)
c.1660G>T (p.Asp554Tyr)
c.934G>T (p.Asp312Tyr)
c.1540G>T (p.Asp514Tyr)
n.2423+2554C>A
n.1899G>T
10g.18539516A>CCA376072154CACNB2,NSUN6c.1631A>C (p.Asp544Ala)
c.1496A>C (p.Asp499Ala)
c.1619A>C (p.Asp540Ala)
c.1691A>C (p.Asp564Ala)
c.1775A>C (p.Asp592Ala)
c.1613A>C (p.Asp538Ala)
c.1400A>C (p.Asp467Ala)
c.1577A>C (p.Asp526Ala)
c.*916A>C (n.*916A>C)
c.1517A>C (p.Asp506Ala)
c.*1049A>C (n.*1049A>C)
c.1332A>C (n.1332A>C)
c.*1014A>C (n.*1014A>C)
c.1595A>C (p.Asp532Ala)
c.*875A>C (n.*875A>C)
c.1703A>C (p.Asp568Ala)
c.1025A>C (p.Asp342Ala)
c.1610A>C (p.Asp537Ala)
c.1479A>C (n.1479A>C)
c.287A>C (p.Asp96Ala)
c.860A>C (p.Asp287Ala)
c.1538A>C (p.Asp513Ala)
c.1661A>C (p.Asp554Ala)
c.935A>C (p.Asp312Ala)
c.1541A>C (p.Asp514Ala)
n.2423+2553T>G
n.1900A>C
10g.18539516A>GCA376072157CACNB2,NSUN6c.1631A>G (p.Asp544Gly)
c.1496A>G (p.Asp499Gly)
c.1619A>G (p.Asp540Gly)
c.1691A>G (p.Asp564Gly)
c.1775A>G (p.Asp592Gly)
c.1613A>G (p.Asp538Gly)
c.1400A>G (p.Asp467Gly)
c.1577A>G (p.Asp526Gly)
c.*916A>G (n.*916A>G)
c.1517A>G (p.Asp506Gly)
c.*1049A>G (n.*1049A>G)
c.1332A>G (n.1332A>G)
c.*1014A>G (n.*1014A>G)
c.1595A>G (p.Asp532Gly)
c.*875A>G (n.*875A>G)
c.1703A>G (p.Asp568Gly)
c.1025A>G (p.Asp342Gly)
c.1610A>G (p.Asp537Gly)
c.1479A>G (n.1479A>G)
c.287A>G (p.Asp96Gly)
c.860A>G (p.Asp287Gly)
c.1538A>G (p.Asp513Gly)
c.1661A>G (p.Asp554Gly)
c.935A>G (p.Asp312Gly)
c.1541A>G (p.Asp514Gly)
n.2423+2553T>C
n.1900A>G
10g.18539516A>TCA376072158CACNB2,NSUN6c.1631A>T (p.Asp544Val)
c.1496A>T (p.Asp499Val)
c.1619A>T (p.Asp540Val)
c.1691A>T (p.Asp564Val)
c.1775A>T (p.Asp592Val)
c.1613A>T (p.Asp538Val)
c.1400A>T (p.Asp467Val)
c.1577A>T (p.Asp526Val)
c.*916A>T (n.*916A>T)
c.1517A>T (p.Asp506Val)
c.*1049A>T (n.*1049A>T)
c.1332A>T (n.1332A>T)
c.*1014A>T (n.*1014A>T)
c.1595A>T (p.Asp532Val)
c.*875A>T (n.*875A>T)
c.1703A>T (p.Asp568Val)
c.1025A>T (p.Asp342Val)
c.1610A>T (p.Asp537Val)
c.1479A>T (n.1479A>T)
c.287A>T (p.Asp96Val)
c.860A>T (p.Asp287Val)
c.1538A>T (p.Asp513Val)
c.1661A>T (p.Asp554Val)
c.935A>T (p.Asp312Val)
c.1541A>T (p.Asp514Val)
n.2423+2553T>A
n.1900A>T
10g.18539517C>ACA235685CACNB2,NSUN6c.1632C>A (p.Asp544Glu)
c.1497C>A (p.Asp499Glu)
c.1620C>A (p.Asp540Glu)
c.1692C>A (p.Asp564Glu)
c.1776C>A (p.Asp592Glu)
c.1614C>A (p.Asp538Glu)
c.1401C>A (p.Asp467Glu)
c.1578C>A (p.Asp526Glu)
c.*917C>A (n.*917C>A)
c.1518C>A (p.Asp506Glu)
c.*1050C>A (n.*1050C>A)
c.1333C>A (n.1333C>A)
c.*1015C>A (n.*1015C>A)
c.1596C>A (p.Asp532Glu)
c.*876C>A (n.*876C>A)
c.1704C>A (p.Asp568Glu)
c.1026C>A (p.Asp342Glu)
c.1611C>A (p.Asp537Glu)
c.1480C>A (n.1480C>A)
c.288C>A (p.Asp96Glu)
c.861C>A (p.Asp287Glu)
c.1539C>A (p.Asp513Glu)
c.1662C>A (p.Asp554Glu)
c.936C>A (p.Asp312Glu)
c.1542C>A (p.Asp514Glu)
n.2423+2552G>T
n.1901C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539517C=CA1894173721CACNB2,NSUN6c.1632C= (p.Asp544=)
c.1497C= (p.Asp499=)
c.1620C= (p.Asp540=)
c.1692C= (p.Asp564=)
c.1776C= (p.Asp592=)
c.1614C= (p.Asp538=)
c.1401C= (p.Asp467=)
c.1578C= (p.Asp526=)
c.*917C= (n.*917C=)
c.1518C= (p.Asp506=)
c.*1050C= (n.*1050C=)
c.1333C= (n.1333C=)
c.*1015C= (n.*1015C=)
c.1596C= (p.Asp532=)
c.*876C= (n.*876C=)
c.1704C= (p.Asp568=)
c.1026C= (p.Asp342=)
c.1611C= (p.Asp537=)
c.1480C= (n.1480C=)
c.288C= (p.Asp96=)
c.861C= (p.Asp287=)
c.1539C= (p.Asp513=)
c.1662C= (p.Asp554=)
c.936C= (p.Asp312=)
c.1542C= (p.Asp514=)
n.2423+2552G=
n.1901C=
10g.18539517C>GCA5430166CACNB2,NSUN6c.1632C>G (p.Asp544Glu)
c.1497C>G (p.Asp499Glu)
c.1620C>G (p.Asp540Glu)
c.1692C>G (p.Asp564Glu)
c.1776C>G (p.Asp592Glu)
c.1614C>G (p.Asp538Glu)
c.1401C>G (p.Asp467Glu)
c.1578C>G (p.Asp526Glu)
c.*917C>G (n.*917C>G)
c.1518C>G (p.Asp506Glu)
c.*1050C>G (n.*1050C>G)
c.1333C>G (n.1333C>G)
c.*1015C>G (n.*1015C>G)
c.1596C>G (p.Asp532Glu)
c.*876C>G (n.*876C>G)
c.1704C>G (p.Asp568Glu)
c.1026C>G (p.Asp342Glu)
c.1611C>G (p.Asp537Glu)
c.1480C>G (n.1480C>G)
c.288C>G (p.Asp96Glu)
c.861C>G (p.Asp287Glu)
c.1539C>G (p.Asp513Glu)
c.1662C>G (p.Asp554Glu)
c.936C>G (p.Asp312Glu)
c.1542C>G (p.Asp514Glu)
n.2423+2552G>C
n.1901C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539517C>TCA5430167CACNB2,NSUN6c.1632C>T (p.Asp544=)
c.1497C>T (p.Asp499=)
c.1620C>T (p.Asp540=)
c.1692C>T (p.Asp564=)
c.1776C>T (p.Asp592=)
c.1614C>T (p.Asp538=)
c.1401C>T (p.Asp467=)
c.1578C>T (p.Asp526=)
c.*917C>T (n.*917C>T)
c.1518C>T (p.Asp506=)
c.*1050C>T (n.*1050C>T)
c.1333C>T (n.1333C>T)
c.*1015C>T (n.*1015C>T)
c.1596C>T (p.Asp532=)
c.*876C>T (n.*876C>T)
c.1704C>T (p.Asp568=)
c.1026C>T (p.Asp342=)
c.1611C>T (p.Asp537=)
c.1480C>T (n.1480C>T)
c.288C>T (p.Asp96=)
c.861C>T (p.Asp287=)
c.1539C>T (p.Asp513=)
c.1662C>T (p.Asp554=)
c.936C>T (p.Asp312=)
c.1542C>T (p.Asp514=)
n.2423+2552G>A
n.1901C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539518G>ACA203167309CACNB2,NSUN6c.1633G>A (p.Glu545Lys)
c.1498G>A (p.Glu500Lys)
c.1621G>A (p.Glu541Lys)
c.1693G>A (p.Glu565Lys)
c.1777G>A (p.Glu593Lys)
c.1615G>A (p.Glu539Lys)
c.1402G>A (p.Glu468Lys)
c.1579G>A (p.Glu527Lys)
c.*918G>A (n.*918G>A)
c.1519G>A (p.Glu507Lys)
c.*1051G>A (n.*1051G>A)
c.1334G>A (n.1334G>A)
c.*1016G>A (n.*1016G>A)
c.1597G>A (p.Glu533Lys)
c.*877G>A (n.*877G>A)
c.1705G>A (p.Glu569Lys)
c.1027G>A (p.Glu343Lys)
c.1612G>A (p.Glu538Lys)
c.1481G>A (n.1481G>A)
c.289G>A (p.Glu97Lys)
c.862G>A (p.Glu288Lys)
c.1540G>A (p.Glu514Lys)
c.1663G>A (p.Glu555Lys)
c.937G>A (p.Glu313Lys)
c.1543G>A (p.Glu515Lys)
n.2423+2551C>T
n.1902G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539518G>CCA376072167CACNB2,NSUN6c.1633G>C (p.Glu545Gln)
c.1498G>C (p.Glu500Gln)
c.1621G>C (p.Glu541Gln)
c.1693G>C (p.Glu565Gln)
c.1777G>C (p.Glu593Gln)
c.1615G>C (p.Glu539Gln)
c.1402G>C (p.Glu468Gln)
c.1579G>C (p.Glu527Gln)
c.*918G>C (n.*918G>C)
c.1519G>C (p.Glu507Gln)
c.*1051G>C (n.*1051G>C)
c.1334G>C (n.1334G>C)
c.*1016G>C (n.*1016G>C)
c.1597G>C (p.Glu533Gln)
c.*877G>C (n.*877G>C)
c.1705G>C (p.Glu569Gln)
c.1027G>C (p.Glu343Gln)
c.1612G>C (p.Glu538Gln)
c.1481G>C (n.1481G>C)
c.289G>C (p.Glu97Gln)
c.862G>C (p.Glu288Gln)
c.1540G>C (p.Glu514Gln)
c.1663G>C (p.Glu555Gln)
c.937G>C (p.Glu313Gln)
c.1543G>C (p.Glu515Gln)
n.2423+2551C>G
n.1902G>C
 gnomAD v4
10g.18539518G=CA1894173735CACNB2,NSUN6c.1633G= (p.Glu545=)
c.1498G= (p.Glu500=)
c.1621G= (p.Glu541=)
c.1693G= (p.Glu565=)
c.1777G= (p.Glu593=)
c.1615G= (p.Glu539=)
c.1402G= (p.Glu468=)
c.1579G= (p.Glu527=)
c.*918G= (n.*918G=)
c.1519G= (p.Glu507=)
c.*1051G= (n.*1051G=)
c.1334G= (n.1334G=)
c.*1016G= (n.*1016G=)
c.1597G= (p.Glu533=)
c.*877G= (n.*877G=)
c.1705G= (p.Glu569=)
c.1027G= (p.Glu343=)
c.1612G= (p.Glu538=)
c.1481G= (n.1481G=)
c.289G= (p.Glu97=)
c.862G= (p.Glu288=)
c.1540G= (p.Glu514=)
c.1663G= (p.Glu555=)
c.937G= (p.Glu313=)
c.1543G= (p.Glu515=)
n.2423+2551C=
n.1902G=
10g.18539518G>TCA376072168CACNB2,NSUN6c.1633G>T (p.Glu545Ter)
c.1498G>T (p.Glu500Ter)
c.1621G>T (p.Glu541Ter)
c.1693G>T (p.Glu565Ter)
c.1777G>T (p.Glu593Ter)
c.1615G>T (p.Glu539Ter)
c.1402G>T (p.Glu468Ter)
c.1579G>T (p.Glu527Ter)
c.*918G>T (n.*918G>T)
c.1519G>T (p.Glu507Ter)
c.*1051G>T (n.*1051G>T)
c.1334G>T (n.1334G>T)
c.*1016G>T (n.*1016G>T)
c.1597G>T (p.Glu533Ter)
c.*877G>T (n.*877G>T)
c.1705G>T (p.Glu569Ter)
c.1027G>T (p.Glu343Ter)
c.1612G>T (p.Glu538Ter)
c.1481G>T (n.1481G>T)
c.289G>T (p.Glu97Ter)
c.862G>T (p.Glu288Ter)
c.1540G>T (p.Glu514Ter)
c.1663G>T (p.Glu555Ter)
c.937G>T (p.Glu313Ter)
c.1543G>T (p.Glu515Ter)
n.2423+2551C>A
n.1902G>T
 dbSNP gnomAD v3 gnomAD v4
10g.18539519A>CCA376072176CACNB2,NSUN6c.1634A>C (p.Glu545Ala)
c.1499A>C (p.Glu500Ala)
c.1622A>C (p.Glu541Ala)
c.1694A>C (p.Glu565Ala)
c.1778A>C (p.Glu593Ala)
c.1616A>C (p.Glu539Ala)
c.1403A>C (p.Glu468Ala)
c.1580A>C (p.Glu527Ala)
c.*919A>C (n.*919A>C)
c.1520A>C (p.Glu507Ala)
c.*1052A>C (n.*1052A>C)
c.1335A>C (n.1335A>C)
c.*1017A>C (n.*1017A>C)
c.1598A>C (p.Glu533Ala)
c.*878A>C (n.*878A>C)
c.1706A>C (p.Glu569Ala)
c.1028A>C (p.Glu343Ala)
c.1613A>C (p.Glu538Ala)
c.1482A>C (n.1482A>C)
c.290A>C (p.Glu97Ala)
c.863A>C (p.Glu288Ala)
c.1541A>C (p.Glu514Ala)
c.1664A>C (p.Glu555Ala)
c.938A>C (p.Glu313Ala)
c.1544A>C (p.Glu515Ala)
n.2423+2550T>G
n.1903A>C
10g.18539519A>GCA376072173CACNB2,NSUN6c.1634A>G (p.Glu545Gly)
c.1499A>G (p.Glu500Gly)
c.1622A>G (p.Glu541Gly)
c.1694A>G (p.Glu565Gly)
c.1778A>G (p.Glu593Gly)
c.1616A>G (p.Glu539Gly)
c.1403A>G (p.Glu468Gly)
c.1580A>G (p.Glu527Gly)
c.*919A>G (n.*919A>G)
c.1520A>G (p.Glu507Gly)
c.*1052A>G (n.*1052A>G)
c.1335A>G (n.1335A>G)
c.*1017A>G (n.*1017A>G)
c.1598A>G (p.Glu533Gly)
c.*878A>G (n.*878A>G)
c.1706A>G (p.Glu569Gly)
c.1028A>G (p.Glu343Gly)
c.1613A>G (p.Glu538Gly)
c.1482A>G (n.1482A>G)
c.290A>G (p.Glu97Gly)
c.863A>G (p.Glu288Gly)
c.1541A>G (p.Glu514Gly)
c.1664A>G (p.Glu555Gly)
c.938A>G (p.Glu313Gly)
c.1544A>G (p.Glu515Gly)
n.2423+2550T>C
n.1903A>G
10g.18539519A>TCA376072171CACNB2,NSUN6c.1634A>T (p.Glu545Val)
c.1499A>T (p.Glu500Val)
c.1622A>T (p.Glu541Val)
c.1694A>T (p.Glu565Val)
c.1778A>T (p.Glu593Val)
c.1616A>T (p.Glu539Val)
c.1403A>T (p.Glu468Val)
c.1580A>T (p.Glu527Val)
c.*919A>T (n.*919A>T)
c.1520A>T (p.Glu507Val)
c.*1052A>T (n.*1052A>T)
c.1335A>T (n.1335A>T)
c.*1017A>T (n.*1017A>T)
c.1598A>T (p.Glu533Val)
c.*878A>T (n.*878A>T)
c.1706A>T (p.Glu569Val)
c.1028A>T (p.Glu343Val)
c.1613A>T (p.Glu538Val)
c.1482A>T (n.1482A>T)
c.290A>T (p.Glu97Val)
c.863A>T (p.Glu288Val)
c.1541A>T (p.Glu514Val)
c.1664A>T (p.Glu555Val)
c.938A>T (p.Glu313Val)
c.1544A>T (p.Glu515Val)
n.2423+2550T>A
n.1903A>T
10g.18539520G>ACA468629905CACNB2,NSUN6c.1635G>A (p.Glu545=)
c.1500G>A (p.Glu500=)
c.1623G>A (p.Glu541=)
c.1695G>A (p.Glu565=)
c.1779G>A (p.Glu593=)
c.1617G>A (p.Glu539=)
c.1404G>A (p.Glu468=)
c.1581G>A (p.Glu527=)
c.*920G>A (n.*920G>A)
c.1521G>A (p.Glu507=)
c.*1053G>A (n.*1053G>A)
c.1336G>A (n.1336G>A)
c.*1018G>A (n.*1018G>A)
c.1599G>A (p.Glu533=)
c.*879G>A (n.*879G>A)
c.1707G>A (p.Glu569=)
c.1029G>A (p.Glu343=)
c.1614G>A (p.Glu538=)
c.1483G>A (n.1483G>A)
c.291G>A (p.Glu97=)
c.864G>A (p.Glu288=)
c.1542G>A (p.Glu514=)
c.1665G>A (p.Glu555=)
c.939G>A (p.Glu313=)
c.1545G>A (p.Glu515=)
n.2423+2549C>T
n.1904G>A
10g.18539520G>CCA203167312CACNB2,NSUN6c.1635G>C (p.Glu545Asp)
c.1500G>C (p.Glu500Asp)
c.1623G>C (p.Glu541Asp)
c.1695G>C (p.Glu565Asp)
c.1779G>C (p.Glu593Asp)
c.1617G>C (p.Glu539Asp)
c.1404G>C (p.Glu468Asp)
c.1581G>C (p.Glu527Asp)
c.*920G>C (n.*920G>C)
c.1521G>C (p.Glu507Asp)
c.*1053G>C (n.*1053G>C)
c.1336G>C (n.1336G>C)
c.*1018G>C (n.*1018G>C)
c.1599G>C (p.Glu533Asp)
c.*879G>C (n.*879G>C)
c.1707G>C (p.Glu569Asp)
c.1029G>C (p.Glu343Asp)
c.1614G>C (p.Glu538Asp)
c.1483G>C (n.1483G>C)
c.291G>C (p.Glu97Asp)
c.864G>C (p.Glu288Asp)
c.1542G>C (p.Glu514Asp)
c.1665G>C (p.Glu555Asp)
c.939G>C (p.Glu313Asp)
c.1545G>C (p.Glu515Asp)
n.2423+2549C>G
n.1904G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.18539520G=CA1894173740CACNB2,NSUN6c.1635G= (p.Glu545=)
c.1500G= (p.Glu500=)
c.1623G= (p.Glu541=)
c.1695G= (p.Glu565=)
c.1779G= (p.Glu593=)
c.1617G= (p.Glu539=)
c.1404G= (p.Glu468=)
c.1581G= (p.Glu527=)
c.*920G= (n.*920G=)
c.1521G= (p.Glu507=)
c.*1053G= (n.*1053G=)
c.1336G= (n.1336G=)
c.*1018G= (n.*1018G=)
c.1599G= (p.Glu533=)
c.*879G= (n.*879G=)
c.1707G= (p.Glu569=)
c.1029G= (p.Glu343=)
c.1614G= (p.Glu538=)
c.1483G= (n.1483G=)
c.291G= (p.Glu97=)
c.864G= (p.Glu288=)
c.1542G= (p.Glu514=)
c.1665G= (p.Glu555=)
c.939G= (p.Glu313=)
c.1545G= (p.Glu515=)
n.2423+2549C=
n.1904G=
10g.18539520G>TCA376072182CACNB2,NSUN6c.1635G>T (p.Glu545Asp)
c.1500G>T (p.Glu500Asp)
c.1623G>T (p.Glu541Asp)
c.1695G>T (p.Glu565Asp)
c.1779G>T (p.Glu593Asp)
c.1617G>T (p.Glu539Asp)
c.1404G>T (p.Glu468Asp)
c.1581G>T (p.Glu527Asp)
c.*920G>T (n.*920G>T)
c.1521G>T (p.Glu507Asp)
c.*1053G>T (n.*1053G>T)
c.1336G>T (n.1336G>T)
c.*1018G>T (n.*1018G>T)
c.1599G>T (p.Glu533Asp)
c.*879G>T (n.*879G>T)
c.1707G>T (p.Glu569Asp)
c.1029G>T (p.Glu343Asp)
c.1614G>T (p.Glu538Asp)
c.1483G>T (n.1483G>T)
c.291G>T (p.Glu97Asp)
c.864G>T (p.Glu288Asp)
c.1542G>T (p.Glu514Asp)
c.1665G>T (p.Glu555Asp)
c.939G>T (p.Glu313Asp)
c.1545G>T (p.Glu515Asp)
n.2423+2549C>A
n.1904G>T
10g.18539524_18539539delCA2574454702CACNB2,NSUN6c.1639_1654del (p.His547ThrfsTer?)
c.1504_1519del (p.His502ThrfsTer?)
c.1627_1642del (p.His543ThrfsTer?)
c.1699_1714del (p.His567ThrfsTer?)
c.1783_1798del (p.His595ThrfsTer?)
c.1621_1636del (p.His541ThrfsTer?)
c.1408_1423del (p.His470ThrfsTer?)
c.1585_1600del (p.His529ThrfsTer?)
c.*924_*939del (n.*924_*939del)
c.1525_1540del (p.His509ThrfsTer?)
c.*1057_*1072del (n.*1057_*1072del)
c.1340_1355del (n.1340_1355del)
c.*1022_*1037del (n.*1022_*1037del)
c.1603_1618del (p.His535ThrfsTer?)
c.*883_*898del (n.*883_*898del)
c.1711_1726del (p.His571ThrfsTer?)
c.1033_1048del (p.His345ThrfsTer?)
c.1618_1633del (p.His540ThrfsTer?)
c.1487_1502del (n.1487_1502del)
c.295_310del (p.His99ThrfsTer?)
c.868_883del (p.His290ThrfsTer?)
c.1546_1561del (p.His516ThrfsTer?)
c.1669_1684del (p.His557ThrfsTer?)
c.943_958del (p.His315ThrfsTer?)
c.1549_1564del (p.His517ThrfsTer?)
n.2423+2534_2423+2549del
n.1908_1923del
 gnomAD v4
10g.18539521A>CCA376072186CACNB2,NSUN6c.1636A>C (p.Thr546Pro)
c.1501A>C (p.Thr501Pro)
c.1624A>C (p.Thr542Pro)
c.1696A>C (p.Thr566Pro)
c.1780A>C (p.Thr594Pro)
c.1618A>C (p.Thr540Pro)
c.1405A>C (p.Thr469Pro)
c.1582A>C (p.Thr528Pro)
c.*921A>C (n.*921A>C)
c.1522A>C (p.Thr508Pro)
c.*1054A>C (n.*1054A>C)
c.1337A>C (n.1337A>C)
c.*1019A>C (n.*1019A>C)
c.1600A>C (p.Thr534Pro)
c.*880A>C (n.*880A>C)
c.1708A>C (p.Thr570Pro)
c.1030A>C (p.Thr344Pro)
c.1615A>C (p.Thr539Pro)
c.1484A>C (n.1484A>C)
c.292A>C (p.Thr98Pro)
c.865A>C (p.Thr289Pro)
c.1543A>C (p.Thr515Pro)
c.1666A>C (p.Thr556Pro)
c.940A>C (p.Thr314Pro)
c.1546A>C (p.Thr516Pro)
n.2423+2548T>G
n.1905A>C
10g.18539521A>GCA376072188CACNB2,NSUN6c.1636A>G (p.Thr546Ala)
c.1501A>G (p.Thr501Ala)
c.1624A>G (p.Thr542Ala)
c.1696A>G (p.Thr566Ala)
c.1780A>G (p.Thr594Ala)
c.1618A>G (p.Thr540Ala)
c.1405A>G (p.Thr469Ala)
c.1582A>G (p.Thr528Ala)
c.*921A>G (n.*921A>G)
c.1522A>G (p.Thr508Ala)
c.*1054A>G (n.*1054A>G)
c.1337A>G (n.1337A>G)
c.*1019A>G (n.*1019A>G)
c.1600A>G (p.Thr534Ala)
c.*880A>G (n.*880A>G)
c.1708A>G (p.Thr570Ala)
c.1030A>G (p.Thr344Ala)
c.1615A>G (p.Thr539Ala)
c.1484A>G (n.1484A>G)
c.292A>G (p.Thr98Ala)
c.865A>G (p.Thr289Ala)
c.1543A>G (p.Thr515Ala)
c.1666A>G (p.Thr556Ala)
c.940A>G (p.Thr314Ala)
c.1546A>G (p.Thr516Ala)
n.2423+2548T>C
n.1905A>G
10g.18539521A>TCA376072190CACNB2,NSUN6c.1636A>T (p.Thr546Ser)
c.1501A>T (p.Thr501Ser)
c.1624A>T (p.Thr542Ser)
c.1696A>T (p.Thr566Ser)
c.1780A>T (p.Thr594Ser)
c.1618A>T (p.Thr540Ser)
c.1405A>T (p.Thr469Ser)
c.1582A>T (p.Thr528Ser)
c.*921A>T (n.*921A>T)
c.1522A>T (p.Thr508Ser)
c.*1054A>T (n.*1054A>T)
c.1337A>T (n.1337A>T)
c.*1019A>T (n.*1019A>T)
c.1600A>T (p.Thr534Ser)
c.*880A>T (n.*880A>T)
c.1708A>T (p.Thr570Ser)
c.1030A>T (p.Thr344Ser)
c.1615A>T (p.Thr539Ser)
c.1484A>T (n.1484A>T)
c.292A>T (p.Thr98Ser)
c.865A>T (p.Thr289Ser)
c.1543A>T (p.Thr515Ser)
c.1666A>T (p.Thr556Ser)
c.940A>T (p.Thr314Ser)
c.1546A>T (p.Thr516Ser)
n.2423+2548T>A
n.1905A>T
10g.18539522C>ACA376072194CACNB2,NSUN6c.1637C>A (p.Thr546Asn)
c.1502C>A (p.Thr501Asn)
c.1625C>A (p.Thr542Asn)
c.1697C>A (p.Thr566Asn)
c.1781C>A (p.Thr594Asn)
c.1619C>A (p.Thr540Asn)
c.1406C>A (p.Thr469Asn)
c.1583C>A (p.Thr528Asn)
c.*922C>A (n.*922C>A)
c.1523C>A (p.Thr508Asn)
c.*1055C>A (n.*1055C>A)
c.1338C>A (n.1338C>A)
c.*1020C>A (n.*1020C>A)
c.1601C>A (p.Thr534Asn)
c.*881C>A (n.*881C>A)
c.1709C>A (p.Thr570Asn)
c.1031C>A (p.Thr344Asn)
c.1616C>A (p.Thr539Asn)
c.1485C>A (n.1485C>A)
c.293C>A (p.Thr98Asn)
c.866C>A (p.Thr289Asn)
c.1544C>A (p.Thr515Asn)
c.1667C>A (p.Thr556Asn)
c.941C>A (p.Thr314Asn)
c.1547C>A (p.Thr516Asn)
n.2423+2547G>T
n.1906C>A
 COSMIC COSMIC COSMIC
10g.18539522C=CA1894173743CACNB2,NSUN6c.1637C= (p.Thr546=)
c.1502C= (p.Thr501=)
c.1625C= (p.Thr542=)
c.1697C= (p.Thr566=)
c.1781C= (p.Thr594=)
c.1619C= (p.Thr540=)
c.1406C= (p.Thr469=)
c.1583C= (p.Thr528=)
c.*922C= (n.*922C=)
c.1523C= (p.Thr508=)
c.*1055C= (n.*1055C=)
c.1338C= (n.1338C=)
c.*1020C= (n.*1020C=)
c.1601C= (p.Thr534=)
c.*881C= (n.*881C=)
c.1709C= (p.Thr570=)
c.1031C= (p.Thr344=)
c.1616C= (p.Thr539=)
c.1485C= (n.1485C=)
c.293C= (p.Thr98=)
c.866C= (p.Thr289=)
c.1544C= (p.Thr515=)
c.1667C= (p.Thr556=)
c.941C= (p.Thr314=)
c.1547C= (p.Thr516=)
n.2423+2547G=
n.1906C=
10g.18539522C>GCA376072196CACNB2,NSUN6c.1637C>G (p.Thr546Ser)
c.1502C>G (p.Thr501Ser)
c.1625C>G (p.Thr542Ser)
c.1697C>G (p.Thr566Ser)
c.1781C>G (p.Thr594Ser)
c.1619C>G (p.Thr540Ser)
c.1406C>G (p.Thr469Ser)
c.1583C>G (p.Thr528Ser)
c.*922C>G (n.*922C>G)
c.1523C>G (p.Thr508Ser)
c.*1055C>G (n.*1055C>G)
c.1338C>G (n.1338C>G)
c.*1020C>G (n.*1020C>G)
c.1601C>G (p.Thr534Ser)
c.*881C>G (n.*881C>G)
c.1709C>G (p.Thr570Ser)
c.1031C>G (p.Thr344Ser)
c.1616C>G (p.Thr539Ser)
c.1485C>G (n.1485C>G)
c.293C>G (p.Thr98Ser)
c.866C>G (p.Thr289Ser)
c.1544C>G (p.Thr515Ser)
c.1667C>G (p.Thr556Ser)
c.941C>G (p.Thr314Ser)
c.1547C>G (p.Thr516Ser)
n.2423+2547G>C
n.1906C>G
 dbSNP gnomAD v2 gnomAD v4
10g.18539522C>TCA376072199CACNB2,NSUN6c.1637C>T (p.Thr546Ile)
c.1502C>T (p.Thr501Ile)
c.1625C>T (p.Thr542Ile)
c.1697C>T (p.Thr566Ile)
c.1781C>T (p.Thr594Ile)
c.1619C>T (p.Thr540Ile)
c.1406C>T (p.Thr469Ile)
c.1583C>T (p.Thr528Ile)
c.*922C>T (n.*922C>T)
c.1523C>T (p.Thr508Ile)
c.*1055C>T (n.*1055C>T)
c.1338C>T (n.1338C>T)
c.*1020C>T (n.*1020C>T)
c.1601C>T (p.Thr534Ile)
c.*881C>T (n.*881C>T)
c.1709C>T (p.Thr570Ile)
c.1031C>T (p.Thr344Ile)
c.1616C>T (p.Thr539Ile)
c.1485C>T (n.1485C>T)
c.293C>T (p.Thr98Ile)
c.866C>T (p.Thr289Ile)
c.1544C>T (p.Thr515Ile)
c.1667C>T (p.Thr556Ile)
c.941C>T (p.Thr314Ile)
c.1547C>T (p.Thr516Ile)
n.2423+2547G>A
n.1906C>T
 gnomAD v4
10g.18539523C>ACA468629921CACNB2,NSUN6c.1638C>A (p.Thr546=)
c.1503C>A (p.Thr501=)
c.1626C>A (p.Thr542=)
c.1698C>A (p.Thr566=)
c.1782C>A (p.Thr594=)
c.1620C>A (p.Thr540=)
c.1407C>A (p.Thr469=)
c.1584C>A (p.Thr528=)
c.*923C>A (n.*923C>A)
c.1524C>A (p.Thr508=)
c.*1056C>A (n.*1056C>A)
c.1339C>A (n.1339C>A)
c.*1021C>A (n.*1021C>A)
c.1602C>A (p.Thr534=)
c.*882C>A (n.*882C>A)
c.1710C>A (p.Thr570=)
c.1032C>A (p.Thr344=)
c.1617C>A (p.Thr539=)
c.1486C>A (n.1486C>A)
c.294C>A (p.Thr98=)
c.867C>A (p.Thr289=)
c.1545C>A (p.Thr515=)
c.1668C>A (p.Thr556=)
c.942C>A (p.Thr314=)
c.1548C>A (p.Thr516=)
n.2423+2546G>T
n.1907C>A
 gnomAD v4
10g.18539523C=CA1894173747CACNB2,NSUN6c.1638C= (p.Thr546=)
c.1503C= (p.Thr501=)
c.1626C= (p.Thr542=)
c.1698C= (p.Thr566=)
c.1782C= (p.Thr594=)
c.1620C= (p.Thr540=)
c.1407C= (p.Thr469=)
c.1584C= (p.Thr528=)
c.*923C= (n.*923C=)
c.1524C= (p.Thr508=)
c.*1056C= (n.*1056C=)
c.1339C= (n.1339C=)
c.*1021C= (n.*1021C=)
c.1602C= (p.Thr534=)
c.*882C= (n.*882C=)
c.1710C= (p.Thr570=)
c.1032C= (p.Thr344=)
c.1617C= (p.Thr539=)
c.1486C= (n.1486C=)
c.294C= (p.Thr98=)
c.867C= (p.Thr289=)
c.1545C= (p.Thr515=)
c.1668C= (p.Thr556=)
c.942C= (p.Thr314=)
c.1548C= (p.Thr516=)
n.2423+2546G=
n.1907C=
10g.18539523C>GCA468629923CACNB2,NSUN6c.1638C>G (p.Thr546=)
c.1503C>G (p.Thr501=)
c.1626C>G (p.Thr542=)
c.1698C>G (p.Thr566=)
c.1782C>G (p.Thr594=)
c.1620C>G (p.Thr540=)
c.1407C>G (p.Thr469=)
c.1584C>G (p.Thr528=)
c.*923C>G (n.*923C>G)
c.1524C>G (p.Thr508=)
c.*1056C>G (n.*1056C>G)
c.1339C>G (n.1339C>G)
c.*1021C>G (n.*1021C>G)
c.1602C>G (p.Thr534=)
c.*882C>G (n.*882C>G)
c.1710C>G (p.Thr570=)
c.1032C>G (p.Thr344=)
c.1617C>G (p.Thr539=)
c.1486C>G (n.1486C>G)
c.294C>G (p.Thr98=)
c.867C>G (p.Thr289=)
c.1545C>G (p.Thr515=)
c.1668C>G (p.Thr556=)
c.942C>G (p.Thr314=)
c.1548C>G (p.Thr516=)
n.2423+2546G>C
n.1907C>G
 gnomAD v4
10g.18539523C>TCA5430168CACNB2,NSUN6c.1638C>T (p.Thr546=)
c.1503C>T (p.Thr501=)
c.1626C>T (p.Thr542=)
c.1698C>T (p.Thr566=)
c.1782C>T (p.Thr594=)
c.1620C>T (p.Thr540=)
c.1407C>T (p.Thr469=)
c.1584C>T (p.Thr528=)
c.*923C>T (n.*923C>T)
c.1524C>T (p.Thr508=)
c.*1056C>T (n.*1056C>T)
c.1339C>T (n.1339C>T)
c.*1021C>T (n.*1021C>T)
c.1602C>T (p.Thr534=)
c.*882C>T (n.*882C>T)
c.1710C>T (p.Thr570=)
c.1032C>T (p.Thr344=)
c.1617C>T (p.Thr539=)
c.1486C>T (n.1486C>T)
c.294C>T (p.Thr98=)
c.867C>T (p.Thr289=)
c.1545C>T (p.Thr515=)
c.1668C>T (p.Thr556=)
c.942C>T (p.Thr314=)
c.1548C>T (p.Thr516=)
n.2423+2546G>A
n.1907C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539524C>ACA376072203CACNB2,NSUN6c.1639C>A (p.His547Asn)
c.1504C>A (p.His502Asn)
c.1627C>A (p.His543Asn)
c.1699C>A (p.His567Asn)
c.1783C>A (p.His595Asn)
c.1621C>A (p.His541Asn)
c.1408C>A (p.His470Asn)
c.1585C>A (p.His529Asn)
c.*924C>A (n.*924C>A)
c.1525C>A (p.His509Asn)
c.*1057C>A (n.*1057C>A)
c.1340C>A (n.1340C>A)
c.*1022C>A (n.*1022C>A)
c.1603C>A (p.His535Asn)
c.*883C>A (n.*883C>A)
c.1711C>A (p.His571Asn)
c.1033C>A (p.His345Asn)
c.1618C>A (p.His540Asn)
c.1487C>A (n.1487C>A)
c.295C>A (p.His99Asn)
c.868C>A (p.His290Asn)
c.1546C>A (p.His516Asn)
c.1669C>A (p.His557Asn)
c.943C>A (p.His315Asn)
c.1549C>A (p.His517Asn)
n.2423+2545G>T
n.1908C>A
10g.18539524C>GCA376072206CACNB2,NSUN6c.1639C>G (p.His547Asp)
c.1504C>G (p.His502Asp)
c.1627C>G (p.His543Asp)
c.1699C>G (p.His567Asp)
c.1783C>G (p.His595Asp)
c.1621C>G (p.His541Asp)
c.1408C>G (p.His470Asp)
c.1585C>G (p.His529Asp)
c.*924C>G (n.*924C>G)
c.1525C>G (p.His509Asp)
c.*1057C>G (n.*1057C>G)
c.1340C>G (n.1340C>G)
c.*1022C>G (n.*1022C>G)
c.1603C>G (p.His535Asp)
c.*883C>G (n.*883C>G)
c.1711C>G (p.His571Asp)
c.1033C>G (p.His345Asp)
c.1618C>G (p.His540Asp)
c.1487C>G (n.1487C>G)
c.295C>G (p.His99Asp)
c.868C>G (p.His290Asp)
c.1546C>G (p.His516Asp)
c.1669C>G (p.His557Asp)
c.943C>G (p.His315Asp)
c.1549C>G (p.His517Asp)
n.2423+2545G>C
n.1908C>G
10g.18539524C>TCA376072208CACNB2,NSUN6c.1639C>T (p.His547Tyr)
c.1504C>T (p.His502Tyr)
c.1627C>T (p.His543Tyr)
c.1699C>T (p.His567Tyr)
c.1783C>T (p.His595Tyr)
c.1621C>T (p.His541Tyr)
c.1408C>T (p.His470Tyr)
c.1585C>T (p.His529Tyr)
c.*924C>T (n.*924C>T)
c.1525C>T (p.His509Tyr)
c.*1057C>T (n.*1057C>T)
c.1340C>T (n.1340C>T)
c.*1022C>T (n.*1022C>T)
c.1603C>T (p.His535Tyr)
c.*883C>T (n.*883C>T)
c.1711C>T (p.His571Tyr)
c.1033C>T (p.His345Tyr)
c.1618C>T (p.His540Tyr)
c.1487C>T (n.1487C>T)
c.295C>T (p.His99Tyr)
c.868C>T (p.His290Tyr)
c.1546C>T (p.His516Tyr)
c.1669C>T (p.His557Tyr)
c.943C>T (p.His315Tyr)
c.1549C>T (p.His517Tyr)
n.2423+2545G>A
n.1908C>T
10g.18539525A>CCA376072216CACNB2,NSUN6c.1640A>C (p.His547Pro)
c.1505A>C (p.His502Pro)
c.1628A>C (p.His543Pro)
c.1700A>C (p.His567Pro)
c.1784A>C (p.His595Pro)
c.1622A>C (p.His541Pro)
c.1409A>C (p.His470Pro)
c.1586A>C (p.His529Pro)
c.*925A>C (n.*925A>C)
c.1526A>C (p.His509Pro)
c.*1058A>C (n.*1058A>C)
c.1341A>C (n.1341A>C)
c.*1023A>C (n.*1023A>C)
c.1604A>C (p.His535Pro)
c.*884A>C (n.*884A>C)
c.1712A>C (p.His571Pro)
c.1034A>C (p.His345Pro)
c.1619A>C (p.His540Pro)
c.1488A>C (n.1488A>C)
c.296A>C (p.His99Pro)
c.869A>C (p.His290Pro)
c.1547A>C (p.His516Pro)
c.1670A>C (p.His557Pro)
c.944A>C (p.His315Pro)
c.1550A>C (p.His517Pro)
n.2423+2544T>G
n.1909A>C
10g.18539525A>GCA376072214CACNB2,NSUN6c.1640A>G (p.His547Arg)
c.1505A>G (p.His502Arg)
c.1628A>G (p.His543Arg)
c.1700A>G (p.His567Arg)
c.1784A>G (p.His595Arg)
c.1622A>G (p.His541Arg)
c.1409A>G (p.His470Arg)
c.1586A>G (p.His529Arg)
c.*925A>G (n.*925A>G)
c.1526A>G (p.His509Arg)
c.*1058A>G (n.*1058A>G)
c.1341A>G (n.1341A>G)
c.*1023A>G (n.*1023A>G)
c.1604A>G (p.His535Arg)
c.*884A>G (n.*884A>G)
c.1712A>G (p.His571Arg)
c.1034A>G (p.His345Arg)
c.1619A>G (p.His540Arg)
c.1488A>G (n.1488A>G)
c.296A>G (p.His99Arg)
c.869A>G (p.His290Arg)
c.1547A>G (p.His516Arg)
c.1670A>G (p.His557Arg)
c.944A>G (p.His315Arg)
c.1550A>G (p.His517Arg)
n.2423+2544T>C
n.1909A>G
10g.18539525A>TCA376072211CACNB2,NSUN6c.1640A>T (p.His547Leu)
c.1505A>T (p.His502Leu)
c.1628A>T (p.His543Leu)
c.1700A>T (p.His567Leu)
c.1784A>T (p.His595Leu)
c.1622A>T (p.His541Leu)
c.1409A>T (p.His470Leu)
c.1586A>T (p.His529Leu)
c.*925A>T (n.*925A>T)
c.1526A>T (p.His509Leu)
c.*1058A>T (n.*1058A>T)
c.1341A>T (n.1341A>T)
c.*1023A>T (n.*1023A>T)
c.1604A>T (p.His535Leu)
c.*884A>T (n.*884A>T)
c.1712A>T (p.His571Leu)
c.1034A>T (p.His345Leu)
c.1619A>T (p.His540Leu)
c.1488A>T (n.1488A>T)
c.296A>T (p.His99Leu)
c.869A>T (p.His290Leu)
c.1547A>T (p.His516Leu)
c.1670A>T (p.His557Leu)
c.944A>T (p.His315Leu)
c.1550A>T (p.His517Leu)
n.2423+2544T>A
n.1909A>T
10g.18539526C>ACA376072218CACNB2,NSUN6c.1641C>A (p.His547Gln)
c.1506C>A (p.His502Gln)
c.1629C>A (p.His543Gln)
c.1701C>A (p.His567Gln)
c.1785C>A (p.His595Gln)
c.1623C>A (p.His541Gln)
c.1410C>A (p.His470Gln)
c.1587C>A (p.His529Gln)
c.*926C>A (n.*926C>A)
c.1527C>A (p.His509Gln)
c.*1059C>A (n.*1059C>A)
c.1342C>A (n.1342C>A)
c.*1024C>A (n.*1024C>A)
c.1605C>A (p.His535Gln)
c.*885C>A (n.*885C>A)
c.1713C>A (p.His571Gln)
c.1035C>A (p.His345Gln)
c.1620C>A (p.His540Gln)
c.1489C>A (n.1489C>A)
c.297C>A (p.His99Gln)
c.870C>A (p.His290Gln)
c.1548C>A (p.His516Gln)
c.1671C>A (p.His557Gln)
c.945C>A (p.His315Gln)
c.1551C>A (p.His517Gln)
n.2423+2543G>T
n.1910C>A
10g.18539526C=CA1894173751CACNB2,NSUN6c.1641C= (p.His547=)
c.1506C= (p.His502=)
c.1629C= (p.His543=)
c.1701C= (p.His567=)
c.1785C= (p.His595=)
c.1623C= (p.His541=)
c.1410C= (p.His470=)
c.1587C= (p.His529=)
c.*926C= (n.*926C=)
c.1527C= (p.His509=)
c.*1059C= (n.*1059C=)
c.1342C= (n.1342C=)
c.*1024C= (n.*1024C=)
c.1605C= (p.His535=)
c.*885C= (n.*885C=)
c.1713C= (p.His571=)
c.1035C= (p.His345=)
c.1620C= (p.His540=)
c.1489C= (n.1489C=)
c.297C= (p.His99=)
c.870C= (p.His290=)
c.1548C= (p.His516=)
c.1671C= (p.His557=)
c.945C= (p.His315=)
c.1551C= (p.His517=)
n.2423+2543G=
n.1910C=
10g.18539526C>GCA376072220CACNB2,NSUN6c.1641C>G (p.His547Gln)
c.1506C>G (p.His502Gln)
c.1629C>G (p.His543Gln)
c.1701C>G (p.His567Gln)
c.1785C>G (p.His595Gln)
c.1623C>G (p.His541Gln)
c.1410C>G (p.His470Gln)
c.1587C>G (p.His529Gln)
c.*926C>G (n.*926C>G)
c.1527C>G (p.His509Gln)
c.*1059C>G (n.*1059C>G)
c.1342C>G (n.1342C>G)
c.*1024C>G (n.*1024C>G)
c.1605C>G (p.His535Gln)
c.*885C>G (n.*885C>G)
c.1713C>G (p.His571Gln)
c.1035C>G (p.His345Gln)
c.1620C>G (p.His540Gln)
c.1489C>G (n.1489C>G)
c.297C>G (p.His99Gln)
c.870C>G (p.His290Gln)
c.1548C>G (p.His516Gln)
c.1671C>G (p.His557Gln)
c.945C>G (p.His315Gln)
c.1551C>G (p.His517Gln)
n.2423+2543G>C
n.1910C>G
10g.18539526C>TCA289946CACNB2,NSUN6c.1641C>T (p.His547=)
c.1506C>T (p.His502=)
c.1629C>T (p.His543=)
c.1701C>T (p.His567=)
c.1785C>T (p.His595=)
c.1623C>T (p.His541=)
c.1410C>T (p.His470=)
c.1587C>T (p.His529=)
c.*926C>T (n.*926C>T)
c.1527C>T (p.His509=)
c.*1059C>T (n.*1059C>T)
c.1342C>T (n.1342C>T)
c.*1024C>T (n.*1024C>T)
c.1605C>T (p.His535=)
c.*885C>T (n.*885C>T)
c.1713C>T (p.His571=)
c.1035C>T (p.His345=)
c.1620C>T (p.His540=)
c.1489C>T (n.1489C>T)
c.297C>T (p.His99=)
c.870C>T (p.His290=)
c.1548C>T (p.His516=)
c.1671C>T (p.His557=)
c.945C>T (p.His315=)
c.1551C>T (p.His517=)
n.2423+2543G>A
n.1910C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539527G>ACA5430170CACNB2,NSUN6c.1642G>A (p.Gly548Arg)
c.1507G>A (p.Gly503Arg)
c.1630G>A (p.Gly544Arg)
c.1702G>A (p.Gly568Arg)
c.1786G>A (p.Gly596Arg)
c.1624G>A (p.Gly542Arg)
c.1411G>A (p.Gly471Arg)
c.1588G>A (p.Gly530Arg)
c.*927G>A (n.*927G>A)
c.1528G>A (p.Gly510Arg)
c.*1060G>A (n.*1060G>A)
c.1343G>A (n.1343G>A)
c.*1025G>A (n.*1025G>A)
c.1606G>A (p.Gly536Arg)
c.*886G>A (n.*886G>A)
c.1714G>A (p.Gly572Arg)
c.1036G>A (p.Gly346Arg)
c.1621G>A (p.Gly541Arg)
c.1490G>A (n.1490G>A)
c.298G>A (p.Gly100Arg)
c.871G>A (p.Gly291Arg)
c.1549G>A (p.Gly517Arg)
c.1672G>A (p.Gly558Arg)
c.946G>A (p.Gly316Arg)
c.1552G>A (p.Gly518Arg)
n.2423+2542C>T
n.1911G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.18539527G>CCA376072227CACNB2,NSUN6c.1642G>C (p.Gly548Arg)
c.1507G>C (p.Gly503Arg)
c.1630G>C (p.Gly544Arg)
c.1702G>C (p.Gly568Arg)
c.1786G>C (p.Gly596Arg)
c.1624G>C (p.Gly542Arg)
c.1411G>C (p.Gly471Arg)
c.1588G>C (p.Gly530Arg)
c.*927G>C (n.*927G>C)
c.1528G>C (p.Gly510Arg)
c.*1060G>C (n.*1060G>C)
c.1343G>C (n.1343G>C)
c.*1025G>C (n.*1025G>C)
c.1606G>C (p.Gly536Arg)
c.*886G>C (n.*886G>C)
c.1714G>C (p.Gly572Arg)
c.1036G>C (p.Gly346Arg)
c.1621G>C (p.Gly541Arg)
c.1490G>C (n.1490G>C)
c.298G>C (p.Gly100Arg)
c.871G>C (p.Gly291Arg)
c.1549G>C (p.Gly517Arg)
c.1672G>C (p.Gly558Arg)
c.946G>C (p.Gly316Arg)
c.1552G>C (p.Gly518Arg)
n.2423+2542C>G
n.1911G>C
10g.18539527G=CA1894173757CACNB2,NSUN6c.1642G= (p.Gly548=)
c.1507G= (p.Gly503=)
c.1630G= (p.Gly544=)
c.1702G= (p.Gly568=)
c.1786G= (p.Gly596=)
c.1624G= (p.Gly542=)
c.1411G= (p.Gly471=)
c.1588G= (p.Gly530=)
c.*927G= (n.*927G=)
c.1528G= (p.Gly510=)
c.*1060G= (n.*1060G=)
c.1343G= (n.1343G=)
c.*1025G= (n.*1025G=)
c.1606G= (p.Gly536=)
c.*886G= (n.*886G=)
c.1714G= (p.Gly572=)
c.1036G= (p.Gly346=)
c.1621G= (p.Gly541=)
c.1490G= (n.1490G=)
c.298G= (p.Gly100=)
c.871G= (p.Gly291=)
c.1549G= (p.Gly517=)
c.1672G= (p.Gly558=)
c.946G= (p.Gly316=)
c.1552G= (p.Gly518=)
n.2423+2542C=
n.1911G=
10g.18539527G>TCA376072228CACNB2,NSUN6c.1642G>T (p.Gly548Trp)
c.1507G>T (p.Gly503Trp)
c.1630G>T (p.Gly544Trp)
c.1702G>T (p.Gly568Trp)
c.1786G>T (p.Gly596Trp)
c.1624G>T (p.Gly542Trp)
c.1411G>T (p.Gly471Trp)
c.1588G>T (p.Gly530Trp)
c.*927G>T (n.*927G>T)
c.1528G>T (p.Gly510Trp)
c.*1060G>T (n.*1060G>T)
c.1343G>T (n.1343G>T)
c.*1025G>T (n.*1025G>T)
c.1606G>T (p.Gly536Trp)
c.*886G>T (n.*886G>T)
c.1714G>T (p.Gly572Trp)
c.1036G>T (p.Gly346Trp)
c.1621G>T (p.Gly541Trp)
c.1490G>T (n.1490G>T)
c.298G>T (p.Gly100Trp)
c.871G>T (p.Gly291Trp)
c.1549G>T (p.Gly517Trp)
c.1672G>T (p.Gly558Trp)
c.946G>T (p.Gly316Trp)
c.1552G>T (p.Gly518Trp)
n.2423+2542C>A
n.1911G>T
 dbSNP gnomAD v2 gnomAD v4
10g.18539529dupCA5430169CACNB2,NSUN6c.1644dup (p.Ser549GlufsTer3)
c.1509dup (p.Ser504GlufsTer3)
c.1632dup (p.Ser545GlufsTer3)
c.1704dup (p.Ser569GlufsTer3)
c.1788dup (p.Ser597GlufsTer3)
c.1626dup (p.Ser543GlufsTer3)
c.1413dup (p.Ser472GlufsTer3)
c.1590dup (p.Ser531GlufsTer3)
c.*929dup (n.*929dup)
c.1530dup (p.Ser511GlufsTer3)
c.*1062dup (n.*1062dup)
c.1345dup (n.1345dup)
c.*1027dup (n.*1027dup)
c.1608dup (p.Ser537GlufsTer3)
c.*888dup (n.*888dup)
c.1716dup (p.Ser573GlufsTer3)
c.1038dup (p.Ser347GlufsTer3)
c.1623dup (p.Ser542GlufsTer3)
c.1492dup (n.1492dup)
c.300dup (p.Ser101GlufsTer3)
c.873dup (p.Ser292GlufsTer3)
c.1551dup (p.Ser518GlufsTer3)
c.1674dup (p.Ser559GlufsTer3)
c.948dup (p.Ser317GlufsTer3)
c.1554dup (p.Ser519GlufsTer3)
n.2423+2542dup
n.1913dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539528G>ACA376072229CACNB2,NSUN6c.1643G>A (p.Gly548Glu)
c.1508G>A (p.Gly503Glu)
c.1631G>A (p.Gly544Glu)
c.1703G>A (p.Gly568Glu)
c.1787G>A (p.Gly596Glu)
c.1625G>A (p.Gly542Glu)
c.1412G>A (p.Gly471Glu)
c.1589G>A (p.Gly530Glu)
c.*928G>A (n.*928G>A)
c.1529G>A (p.Gly510Glu)
c.*1061G>A (n.*1061G>A)
c.1344G>A (n.1344G>A)
c.*1026G>A (n.*1026G>A)
c.1607G>A (p.Gly536Glu)
c.*887G>A (n.*887G>A)
c.1715G>A (p.Gly572Glu)
c.1037G>A (p.Gly346Glu)
c.1622G>A (p.Gly541Glu)
c.1491G>A (n.1491G>A)
c.299G>A (p.Gly100Glu)
c.872G>A (p.Gly291Glu)
c.1550G>A (p.Gly517Glu)
c.1673G>A (p.Gly558Glu)
c.947G>A (p.Gly316Glu)
c.1553G>A (p.Gly518Glu)
n.2423+2541C>T
n.1912G>A
 dbSNP gnomAD v2 gnomAD v4
10g.18539528G>CCA376072231CACNB2,NSUN6c.1643G>C (p.Gly548Ala)
c.1508G>C (p.Gly503Ala)
c.1631G>C (p.Gly544Ala)
c.1703G>C (p.Gly568Ala)
c.1787G>C (p.Gly596Ala)
c.1625G>C (p.Gly542Ala)
c.1412G>C (p.Gly471Ala)
c.1589G>C (p.Gly530Ala)
c.*928G>C (n.*928G>C)
c.1529G>C (p.Gly510Ala)
c.*1061G>C (n.*1061G>C)
c.1344G>C (n.1344G>C)
c.*1026G>C (n.*1026G>C)
c.1607G>C (p.Gly536Ala)
c.*887G>C (n.*887G>C)
c.1715G>C (p.Gly572Ala)
c.1037G>C (p.Gly346Ala)
c.1622G>C (p.Gly541Ala)
c.1491G>C (n.1491G>C)
c.299G>C (p.Gly100Ala)
c.872G>C (p.Gly291Ala)
c.1550G>C (p.Gly517Ala)
c.1673G>C (p.Gly558Ala)
c.947G>C (p.Gly316Ala)
c.1553G>C (p.Gly518Ala)
n.2423+2541C>G
n.1912G>C
10g.18539528G=CA1894173763CACNB2,NSUN6c.1643G= (p.Gly548=)
c.1508G= (p.Gly503=)
c.1631G= (p.Gly544=)
c.1703G= (p.Gly568=)
c.1787G= (p.Gly596=)
c.1625G= (p.Gly542=)
c.1412G= (p.Gly471=)
c.1589G= (p.Gly530=)
c.*928G= (n.*928G=)
c.1529G= (p.Gly510=)
c.*1061G= (n.*1061G=)
c.1344G= (n.1344G=)
c.*1026G= (n.*1026G=)
c.1607G= (p.Gly536=)
c.*887G= (n.*887G=)
c.1715G= (p.Gly572=)
c.1037G= (p.Gly346=)
c.1622G= (p.Gly541=)
c.1491G= (n.1491G=)
c.299G= (p.Gly100=)
c.872G= (p.Gly291=)
c.1550G= (p.Gly517=)
c.1673G= (p.Gly558=)
c.947G= (p.Gly316=)
c.1553G= (p.Gly518=)
n.2423+2541C=
n.1912G=
10g.18539528G>TCA376072233CACNB2,NSUN6c.1643G>T (p.Gly548Val)
c.1508G>T (p.Gly503Val)
c.1631G>T (p.Gly544Val)
c.1703G>T (p.Gly568Val)
c.1787G>T (p.Gly596Val)
c.1625G>T (p.Gly542Val)
c.1412G>T (p.Gly471Val)
c.1589G>T (p.Gly530Val)
c.*928G>T (n.*928G>T)
c.1529G>T (p.Gly510Val)
c.*1061G>T (n.*1061G>T)
c.1344G>T (n.1344G>T)
c.*1026G>T (n.*1026G>T)
c.1607G>T (p.Gly536Val)
c.*887G>T (n.*887G>T)
c.1715G>T (p.Gly572Val)
c.1037G>T (p.Gly346Val)
c.1622G>T (p.Gly541Val)
c.1491G>T (n.1491G>T)
c.299G>T (p.Gly100Val)
c.872G>T (p.Gly291Val)
c.1550G>T (p.Gly517Val)
c.1673G>T (p.Gly558Val)
c.947G>T (p.Gly316Val)
c.1553G>T (p.Gly518Val)
n.2423+2541C>A
n.1912G>T
10g.18539529G>ACA468629975CACNB2,NSUN6c.1644G>A (p.Gly548=)
c.1509G>A (p.Gly503=)
c.1632G>A (p.Gly544=)
c.1704G>A (p.Gly568=)
c.1788G>A (p.Gly596=)
c.1626G>A (p.Gly542=)
c.1413G>A (p.Gly471=)
c.1590G>A (p.Gly530=)
c.*929G>A (n.*929G>A)
c.1530G>A (p.Gly510=)
c.*1062G>A (n.*1062G>A)
c.1345G>A (n.1345G>A)
c.*1027G>A (n.*1027G>A)
c.1608G>A (p.Gly536=)
c.*888G>A (n.*888G>A)
c.1716G>A (p.Gly572=)
c.1038G>A (p.Gly346=)
c.1623G>A (p.Gly541=)
c.1492G>A (n.1492G>A)
c.300G>A (p.Gly100=)
c.873G>A (p.Gly291=)
c.1551G>A (p.Gly517=)
c.1674G>A (p.Gly558=)
c.948G>A (p.Gly316=)
c.1554G>A (p.Gly518=)
n.2423+2540C>T
n.1913G>A
10g.18539529G>CCA468629978CACNB2,NSUN6c.1644G>C (p.Gly548=)
c.1509G>C (p.Gly503=)
c.1632G>C (p.Gly544=)
c.1704G>C (p.Gly568=)
c.1788G>C (p.Gly596=)
c.1626G>C (p.Gly542=)
c.1413G>C (p.Gly471=)
c.1590G>C (p.Gly530=)
c.*929G>C (n.*929G>C)
c.1530G>C (p.Gly510=)
c.*1062G>C (n.*1062G>C)
c.1345G>C (n.1345G>C)
c.*1027G>C (n.*1027G>C)
c.1608G>C (p.Gly536=)
c.*888G>C (n.*888G>C)
c.1716G>C (p.Gly572=)
c.1038G>C (p.Gly346=)
c.1623G>C (p.Gly541=)
c.1492G>C (n.1492G>C)
c.300G>C (p.Gly100=)
c.873G>C (p.Gly291=)
c.1551G>C (p.Gly517=)
c.1674G>C (p.Gly558=)
c.948G>C (p.Gly316=)
c.1554G>C (p.Gly518=)
n.2423+2540C>G
n.1913G>C
 gnomAD v4
10g.18539529G>TCA468629982CACNB2,NSUN6c.1644G>T (p.Gly548=)
c.1509G>T (p.Gly503=)
c.1632G>T (p.Gly544=)
c.1704G>T (p.Gly568=)
c.1788G>T (p.Gly596=)
c.1626G>T (p.Gly542=)
c.1413G>T (p.Gly471=)
c.1590G>T (p.Gly530=)
c.*929G>T (n.*929G>T)
c.1530G>T (p.Gly510=)
c.*1062G>T (n.*1062G>T)
c.1345G>T (n.1345G>T)
c.*1027G>T (n.*1027G>T)
c.1608G>T (p.Gly536=)
c.*888G>T (n.*888G>T)
c.1716G>T (p.Gly572=)
c.1038G>T (p.Gly346=)
c.1623G>T (p.Gly541=)
c.1492G>T (n.1492G>T)
c.300G>T (p.Gly100=)
c.873G>T (p.Gly291=)
c.1551G>T (p.Gly517=)
c.1674G>T (p.Gly558=)
c.948G>T (p.Gly316=)
c.1554G>T (p.Gly518=)
n.2423+2540C>A
n.1913G>T
10g.18539529_18539540delinsGAGCAGTGACCACA1894173767CACNB2,NSUN6c.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
10g.18539530A>CCA376072235CACNB2,NSUN6c.1645A>C (p.Ser549Arg)
c.1510A>C (p.Ser504Arg)
c.1633A>C (p.Ser545Arg)
c.1705A>C (p.Ser569Arg)
c.1789A>C (p.Ser597Arg)
c.1627A>C (p.Ser543Arg)
c.1414A>C (p.Ser472Arg)
c.1591A>C (p.Ser531Arg)
c.*930A>C (n.*930A>C)
c.1531A>C (p.Ser511Arg)
c.*1063A>C (n.*1063A>C)
c.1346A>C (n.1346A>C)
c.*1028A>C (n.*1028A>C)
c.1609A>C (p.Ser537Arg)
c.*889A>C (n.*889A>C)
c.1717A>C (p.Ser573Arg)
c.1039A>C (p.Ser347Arg)
c.1624A>C (p.Ser542Arg)
c.1493A>C (n.1493A>C)
c.301A>C (p.Ser101Arg)
c.874A>C (p.Ser292Arg)
c.1552A>C (p.Ser518Arg)
c.1675A>C (p.Ser559Arg)
c.949A>C (p.Ser317Arg)
c.1555A>C (p.Ser519Arg)
n.2423+2539T>G
n.1914A>C
10g.18539530A>GCA376072237CACNB2,NSUN6c.1645A>G (p.Ser549Gly)
c.1510A>G (p.Ser504Gly)
c.1633A>G (p.Ser545Gly)
c.1705A>G (p.Ser569Gly)
c.1789A>G (p.Ser597Gly)
c.1627A>G (p.Ser543Gly)
c.1414A>G (p.Ser472Gly)
c.1591A>G (p.Ser531Gly)
c.*930A>G (n.*930A>G)
c.1531A>G (p.Ser511Gly)
c.*1063A>G (n.*1063A>G)
c.1346A>G (n.1346A>G)
c.*1028A>G (n.*1028A>G)
c.1609A>G (p.Ser537Gly)
c.*889A>G (n.*889A>G)
c.1717A>G (p.Ser573Gly)
c.1039A>G (p.Ser347Gly)
c.1624A>G (p.Ser542Gly)
c.1493A>G (n.1493A>G)
c.301A>G (p.Ser101Gly)
c.874A>G (p.Ser292Gly)
c.1552A>G (p.Ser518Gly)
c.1675A>G (p.Ser559Gly)
c.949A>G (p.Ser317Gly)
c.1555A>G (p.Ser519Gly)
n.2423+2539T>C
n.1914A>G
10g.18539530A>TCA376072239CACNB2,NSUN6c.1645A>T (p.Ser549Cys)
c.1510A>T (p.Ser504Cys)
c.1633A>T (p.Ser545Cys)
c.1705A>T (p.Ser569Cys)
c.1789A>T (p.Ser597Cys)
c.1627A>T (p.Ser543Cys)
c.1414A>T (p.Ser472Cys)
c.1591A>T (p.Ser531Cys)
c.*930A>T (n.*930A>T)
c.1531A>T (p.Ser511Cys)
c.*1063A>T (n.*1063A>T)
c.1346A>T (n.1346A>T)
c.*1028A>T (n.*1028A>T)
c.1609A>T (p.Ser537Cys)
c.*889A>T (n.*889A>T)
c.1717A>T (p.Ser573Cys)
c.1039A>T (p.Ser347Cys)
c.1624A>T (p.Ser542Cys)
c.1493A>T (n.1493A>T)
c.301A>T (p.Ser101Cys)
c.874A>T (p.Ser292Cys)
c.1552A>T (p.Ser518Cys)
c.1675A>T (p.Ser559Cys)
c.949A>T (p.Ser317Cys)
c.1555A>T (p.Ser519Cys)
n.2423+2539T>A
n.1914A>T
10g.18539530_18539540delCA925494137CACNB2,NSUN6c.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
10g.18539531G>ACA376072245CACNB2,NSUN6c.1646G>A (p.Ser549Asn)
c.1511G>A (p.Ser504Asn)
c.1634G>A (p.Ser545Asn)
c.1706G>A (p.Ser569Asn)
c.1790G>A (p.Ser597Asn)
c.1628G>A (p.Ser543Asn)
c.1415G>A (p.Ser472Asn)
c.1592G>A (p.Ser531Asn)
c.*931G>A (n.*931G>A)
c.1532G>A (p.Ser511Asn)
c.*1064G>A (n.*1064G>A)
c.1347G>A (n.1347G>A)
c.*1029G>A (n.*1029G>A)
c.1610G>A (p.Ser537Asn)
c.*890G>A (n.*890G>A)
c.1718G>A (p.Ser573Asn)
c.1040G>A (p.Ser347Asn)
c.1625G>A (p.Ser542Asn)
c.1494G>A (n.1494G>A)
c.302G>A (p.Ser101Asn)
c.875G>A (p.Ser292Asn)
c.1553G>A (p.Ser518Asn)
c.1676G>A (p.Ser559Asn)
c.950G>A (p.Ser317Asn)
c.1556G>A (p.Ser519Asn)
n.2423+2538C>T
n.1915G>A
 dbSNP gnomAD v4
10g.18539531G>CCA376072248CACNB2,NSUN6c.1646G>C (p.Ser549Thr)
c.1511G>C (p.Ser504Thr)
c.1634G>C (p.Ser545Thr)
c.1706G>C (p.Ser569Thr)
c.1790G>C (p.Ser597Thr)
c.1628G>C (p.Ser543Thr)
c.1415G>C (p.Ser472Thr)
c.1592G>C (p.Ser531Thr)
c.*931G>C (n.*931G>C)
c.1532G>C (p.Ser511Thr)
c.*1064G>C (n.*1064G>C)
c.1347G>C (n.1347G>C)
c.*1029G>C (n.*1029G>C)
c.1610G>C (p.Ser537Thr)
c.*890G>C (n.*890G>C)
c.1718G>C (p.Ser573Thr)
c.1040G>C (p.Ser347Thr)
c.1625G>C (p.Ser542Thr)
c.1494G>C (n.1494G>C)
c.302G>C (p.Ser101Thr)
c.875G>C (p.Ser292Thr)
c.1553G>C (p.Ser518Thr)
c.1676G>C (p.Ser559Thr)
c.950G>C (p.Ser317Thr)
c.1556G>C (p.Ser519Thr)
n.2423+2538C>G
n.1915G>C
10g.18539531G=CA1894173772CACNB2,NSUN6c.1646G= (p.Ser549=)
c.1511G= (p.Ser504=)
c.1634G= (p.Ser545=)
c.1706G= (p.Ser569=)
c.1790G= (p.Ser597=)
c.1628G= (p.Ser543=)
c.1415G= (p.Ser472=)
c.1592G= (p.Ser531=)
c.*931G= (n.*931G=)
c.1532G= (p.Ser511=)
c.*1064G= (n.*1064G=)
c.1347G= (n.1347G=)
c.*1029G= (n.*1029G=)
c.1610G= (p.Ser537=)
c.*890G= (n.*890G=)
c.1718G= (p.Ser573=)
c.1040G= (p.Ser347=)
c.1625G= (p.Ser542=)
c.1494G= (n.1494G=)
c.302G= (p.Ser101=)
c.875G= (p.Ser292=)
c.1553G= (p.Ser518=)
c.1676G= (p.Ser559=)
c.950G= (p.Ser317=)
c.1556G= (p.Ser519=)
n.2423+2538C=
n.1915G=
10g.18539531G>TCA376072242CACNB2,NSUN6c.1646G>T (p.Ser549Ile)
c.1511G>T (p.Ser504Ile)
c.1634G>T (p.Ser545Ile)
c.1706G>T (p.Ser569Ile)
c.1790G>T (p.Ser597Ile)
c.1628G>T (p.Ser543Ile)
c.1415G>T (p.Ser472Ile)
c.1592G>T (p.Ser531Ile)
c.*931G>T (n.*931G>T)
c.1532G>T (p.Ser511Ile)
c.*1064G>T (n.*1064G>T)
c.1347G>T (n.1347G>T)
c.*1029G>T (n.*1029G>T)
c.1610G>T (p.Ser537Ile)
c.*890G>T (n.*890G>T)
c.1718G>T (p.Ser573Ile)
c.1040G>T (p.Ser347Ile)
c.1625G>T (p.Ser542Ile)
c.1494G>T (n.1494G>T)
c.302G>T (p.Ser101Ile)
c.875G>T (p.Ser292Ile)
c.1553G>T (p.Ser518Ile)
c.1676G>T (p.Ser559Ile)
c.950G>T (p.Ser317Ile)
c.1556G>T (p.Ser519Ile)
n.2423+2538C>A
n.1915G>T
10g.18539531dupCA2608435633CACNB2,NSUN6c.1646dup (p.Ser549ArgfsTer3)
c.1511dup (p.Ser504ArgfsTer3)
c.1634dup (p.Ser545ArgfsTer3)
c.1706dup (p.Ser569ArgfsTer3)
c.1790dup (p.Ser597ArgfsTer3)
c.1628dup (p.Ser543ArgfsTer3)
c.1415dup (p.Ser472ArgfsTer3)
c.1592dup (p.Ser531ArgfsTer3)
c.*931dup (n.*931dup)
c.1532dup (p.Ser511ArgfsTer3)
c.*1064dup (n.*1064dup)
c.1347dup (n.1347dup)
c.*1029dup (n.*1029dup)
c.1610dup (p.Ser537ArgfsTer3)
c.*890dup (n.*890dup)
c.1718dup (p.Ser573ArgfsTer3)
c.1040dup (p.Ser347ArgfsTer3)
c.1625dup (p.Ser542ArgfsTer3)
c.1494dup (n.1494dup)
c.302dup (p.Ser101ArgfsTer3)
c.875dup (p.Ser292ArgfsTer3)
c.1553dup (p.Ser518ArgfsTer3)
c.1676dup (p.Ser559ArgfsTer3)
c.950dup (p.Ser317ArgfsTer3)
c.1556dup (p.Ser519ArgfsTer3)
n.2423+2538dup
n.1915dup
 gnomAD v4
10g.18539532C>ACA376072253CACNB2,NSUN6c.1647C>A (p.Ser549Arg)
c.1512C>A (p.Ser504Arg)
c.1635C>A (p.Ser545Arg)
c.1707C>A (p.Ser569Arg)
c.1791C>A (p.Ser597Arg)
c.1629C>A (p.Ser543Arg)
c.1416C>A (p.Ser472Arg)
c.1593C>A (p.Ser531Arg)
c.*932C>A (n.*932C>A)
c.1533C>A (p.Ser511Arg)
c.*1065C>A (n.*1065C>A)
c.1348C>A (n.1348C>A)
c.*1030C>A (n.*1030C>A)
c.1611C>A (p.Ser537Arg)
c.*891C>A (n.*891C>A)
c.1719C>A (p.Ser573Arg)
c.1041C>A (p.Ser347Arg)
c.1626C>A (p.Ser542Arg)
c.1495C>A (n.1495C>A)
c.303C>A (p.Ser101Arg)
c.876C>A (p.Ser292Arg)
c.1554C>A (p.Ser518Arg)
c.1677C>A (p.Ser559Arg)
c.951C>A (p.Ser317Arg)
c.1557C>A (p.Ser519Arg)
n.2423+2537G>T
n.1916C>A
10g.18539532C>GCA376072251CACNB2,NSUN6c.1647C>G (p.Ser549Arg)
c.1512C>G (p.Ser504Arg)
c.1635C>G (p.Ser545Arg)
c.1707C>G (p.Ser569Arg)
c.1791C>G (p.Ser597Arg)
c.1629C>G (p.Ser543Arg)
c.1416C>G (p.Ser472Arg)
c.1593C>G (p.Ser531Arg)
c.*932C>G (n.*932C>G)
c.1533C>G (p.Ser511Arg)
c.*1065C>G (n.*1065C>G)
c.1348C>G (n.1348C>G)
c.*1030C>G (n.*1030C>G)
c.1611C>G (p.Ser537Arg)
c.*891C>G (n.*891C>G)
c.1719C>G (p.Ser573Arg)
c.1041C>G (p.Ser347Arg)
c.1626C>G (p.Ser542Arg)
c.1495C>G (n.1495C>G)
c.303C>G (p.Ser101Arg)
c.876C>G (p.Ser292Arg)
c.1554C>G (p.Ser518Arg)
c.1677C>G (p.Ser559Arg)
c.951C>G (p.Ser317Arg)
c.1557C>G (p.Ser519Arg)
n.2423+2537G>C
n.1916C>G
10g.18539532C>TCA468629998CACNB2,NSUN6c.1647C>T (p.Ser549=)
c.1512C>T (p.Ser504=)
c.1635C>T (p.Ser545=)
c.1707C>T (p.Ser569=)
c.1791C>T (p.Ser597=)
c.1629C>T (p.Ser543=)
c.1416C>T (p.Ser472=)
c.1593C>T (p.Ser531=)
c.*932C>T (n.*932C>T)
c.1533C>T (p.Ser511=)
c.*1065C>T (n.*1065C>T)
c.1348C>T (n.1348C>T)
c.*1030C>T (n.*1030C>T)
c.1611C>T (p.Ser537=)
c.*891C>T (n.*891C>T)
c.1719C>T (p.Ser573=)
c.1041C>T (p.Ser347=)
c.1626C>T (p.Ser542=)
c.1495C>T (n.1495C>T)
c.303C>T (p.Ser101=)
c.876C>T (p.Ser292=)
c.1554C>T (p.Ser518=)
c.1677C>T (p.Ser559=)
c.951C>T (p.Ser317=)
c.1557C>T (p.Ser519=)
n.2423+2537G>A
n.1916C>T
10g.18539533A>CCA376072260CACNB2,NSUN6c.1648A>C (p.Ser550Arg)
c.1513A>C (p.Ser505Arg)
c.1636A>C (p.Ser546Arg)
c.1708A>C (p.Ser570Arg)
c.1792A>C (p.Ser598Arg)
c.1630A>C (p.Ser544Arg)
c.1417A>C (p.Ser473Arg)
c.1594A>C (p.Ser532Arg)
c.*933A>C (n.*933A>C)
c.1534A>C (p.Ser512Arg)
c.*1066A>C (n.*1066A>C)
c.1349A>C (n.1349A>C)
c.*1031A>C (n.*1031A>C)
c.1612A>C (p.Ser538Arg)
c.*892A>C (n.*892A>C)
c.1720A>C (p.Ser574Arg)
c.1042A>C (p.Ser348Arg)
c.1627A>C (p.Ser543Arg)
c.1496A>C (n.1496A>C)
c.304A>C (p.Ser102Arg)
c.877A>C (p.Ser293Arg)
c.1555A>C (p.Ser519Arg)
c.1678A>C (p.Ser560Arg)
c.952A>C (p.Ser318Arg)
c.1558A>C (p.Ser520Arg)
n.2423+2536T>G
n.1917A>C
10g.18539533A>GCA376072257CACNB2,NSUN6c.1648A>G (p.Ser550Gly)
c.1513A>G (p.Ser505Gly)
c.1636A>G (p.Ser546Gly)
c.1708A>G (p.Ser570Gly)
c.1792A>G (p.Ser598Gly)
c.1630A>G (p.Ser544Gly)
c.1417A>G (p.Ser473Gly)
c.1594A>G (p.Ser532Gly)
c.*933A>G (n.*933A>G)
c.1534A>G (p.Ser512Gly)
c.*1066A>G (n.*1066A>G)
c.1349A>G (n.1349A>G)
c.*1031A>G (n.*1031A>G)
c.1612A>G (p.Ser538Gly)
c.*892A>G (n.*892A>G)
c.1720A>G (p.Ser574Gly)
c.1042A>G (p.Ser348Gly)
c.1627A>G (p.Ser543Gly)
c.1496A>G (n.1496A>G)
c.304A>G (p.Ser102Gly)
c.877A>G (p.Ser293Gly)
c.1555A>G (p.Ser519Gly)
c.1678A>G (p.Ser560Gly)
c.952A>G (p.Ser318Gly)
c.1558A>G (p.Ser520Gly)
n.2423+2536T>C
n.1917A>G
10g.18539533A>TCA376072261CACNB2,NSUN6c.1648A>T (p.Ser550Cys)
c.1513A>T (p.Ser505Cys)
c.1636A>T (p.Ser546Cys)
c.1708A>T (p.Ser570Cys)
c.1792A>T (p.Ser598Cys)
c.1630A>T (p.Ser544Cys)
c.1417A>T (p.Ser473Cys)
c.1594A>T (p.Ser532Cys)
c.*933A>T (n.*933A>T)
c.1534A>T (p.Ser512Cys)
c.*1066A>T (n.*1066A>T)
c.1349A>T (n.1349A>T)
c.*1031A>T (n.*1031A>T)
c.1612A>T (p.Ser538Cys)
c.*892A>T (n.*892A>T)
c.1720A>T (p.Ser574Cys)
c.1042A>T (p.Ser348Cys)
c.1627A>T (p.Ser543Cys)
c.1496A>T (n.1496A>T)
c.304A>T (p.Ser102Cys)
c.877A>T (p.Ser293Cys)
c.1555A>T (p.Ser519Cys)
c.1678A>T (p.Ser560Cys)
c.952A>T (p.Ser318Cys)
c.1558A>T (p.Ser520Cys)
n.2423+2536T>A
n.1917A>T
10g.18539534G>ACA376072263CACNB2,NSUN6c.1649G>A (p.Ser550Asn)
c.1514G>A (p.Ser505Asn)
c.1637G>A (p.Ser546Asn)
c.1709G>A (p.Ser570Asn)
c.1793G>A (p.Ser598Asn)
c.1631G>A (p.Ser544Asn)
c.1418G>A (p.Ser473Asn)
c.1595G>A (p.Ser532Asn)
c.*934G>A (n.*934G>A)
c.1535G>A (p.Ser512Asn)
c.*1067G>A (n.*1067G>A)
c.1350G>A (n.1350G>A)
c.*1032G>A (n.*1032G>A)
c.1613G>A (p.Ser538Asn)
c.*893G>A (n.*893G>A)
c.1721G>A (p.Ser574Asn)
c.1043G>A (p.Ser348Asn)
c.1628G>A (p.Ser543Asn)
c.1497G>A (n.1497G>A)
c.305G>A (p.Ser102Asn)
c.878G>A (p.Ser293Asn)
c.1556G>A (p.Ser519Asn)
c.1679G>A (p.Ser560Asn)
c.953G>A (p.Ser318Asn)
c.1559G>A (p.Ser520Asn)
n.2423+2535C>T
n.1918G>A
10g.18539534G>CCA376072265CACNB2,NSUN6c.1649G>C (p.Ser550Thr)
c.1514G>C (p.Ser505Thr)
c.1637G>C (p.Ser546Thr)
c.1709G>C (p.Ser570Thr)
c.1793G>C (p.Ser598Thr)
c.1631G>C (p.Ser544Thr)
c.1418G>C (p.Ser473Thr)
c.1595G>C (p.Ser532Thr)
c.*934G>C (n.*934G>C)
c.1535G>C (p.Ser512Thr)
c.*1067G>C (n.*1067G>C)
c.1350G>C (n.1350G>C)
c.*1032G>C (n.*1032G>C)
c.1613G>C (p.Ser538Thr)
c.*893G>C (n.*893G>C)
c.1721G>C (p.Ser574Thr)
c.1043G>C (p.Ser348Thr)
c.1628G>C (p.Ser543Thr)
c.1497G>C (n.1497G>C)
c.305G>C (p.Ser102Thr)
c.878G>C (p.Ser293Thr)
c.1556G>C (p.Ser519Thr)
c.1679G>C (p.Ser560Thr)
c.953G>C (p.Ser318Thr)
c.1559G>C (p.Ser520Thr)
n.2423+2535C>G
n.1918G>C
 ClinVar gnomAD v4
10g.18539534G>TCA376072267CACNB2,NSUN6c.1649G>T (p.Ser550Ile)
c.1514G>T (p.Ser505Ile)
c.1637G>T (p.Ser546Ile)
c.1709G>T (p.Ser570Ile)
c.1793G>T (p.Ser598Ile)
c.1631G>T (p.Ser544Ile)
c.1418G>T (p.Ser473Ile)
c.1595G>T (p.Ser532Ile)
c.*934G>T (n.*934G>T)
c.1535G>T (p.Ser512Ile)
c.*1067G>T (n.*1067G>T)
c.1350G>T (n.1350G>T)
c.*1032G>T (n.*1032G>T)
c.1613G>T (p.Ser538Ile)
c.*893G>T (n.*893G>T)
c.1721G>T (p.Ser574Ile)
c.1043G>T (p.Ser348Ile)
c.1628G>T (p.Ser543Ile)
c.1497G>T (n.1497G>T)
c.305G>T (p.Ser102Ile)
c.878G>T (p.Ser293Ile)
c.1556G>T (p.Ser519Ile)
c.1679G>T (p.Ser560Ile)
c.953G>T (p.Ser318Ile)
c.1559G>T (p.Ser520Ile)
n.2423+2535C>A
n.1918G>T
10g.18539535T>ACA376072269CACNB2,NSUN6c.1650T>A (p.Ser550Arg)
c.1515T>A (p.Ser505Arg)
c.1638T>A (p.Ser546Arg)
c.1710T>A (p.Ser570Arg)
c.1794T>A (p.Ser598Arg)
c.1632T>A (p.Ser544Arg)
c.1419T>A (p.Ser473Arg)
c.1596T>A (p.Ser532Arg)
c.*935T>A (n.*935T>A)
c.1536T>A (p.Ser512Arg)
c.*1068T>A (n.*1068T>A)
c.1351T>A (n.1351T>A)
c.*1033T>A (n.*1033T>A)
c.1614T>A (p.Ser538Arg)
c.*894T>A (n.*894T>A)
c.1722T>A (p.Ser574Arg)
c.1044T>A (p.Ser348Arg)
c.1629T>A (p.Ser543Arg)
c.1498T>A (n.1498T>A)
c.306T>A (p.Ser102Arg)
c.879T>A (p.Ser293Arg)
c.1557T>A (p.Ser519Arg)
c.1680T>A (p.Ser560Arg)
c.954T>A (p.Ser318Arg)
c.1560T>A (p.Ser520Arg)
n.2423+2534A>T
n.1919T>A
10g.18539535T>CCA5430171CACNB2,NSUN6c.1650T>C (p.Ser550=)
c.1515T>C (p.Ser505=)
c.1638T>C (p.Ser546=)
c.1710T>C (p.Ser570=)
c.1794T>C (p.Ser598=)
c.1632T>C (p.Ser544=)
c.1419T>C (p.Ser473=)
c.1596T>C (p.Ser532=)
c.*935T>C (n.*935T>C)
c.1536T>C (p.Ser512=)
c.*1068T>C (n.*1068T>C)
c.1351T>C (n.1351T>C)
c.*1033T>C (n.*1033T>C)
c.1614T>C (p.Ser538=)
c.*894T>C (n.*894T>C)
c.1722T>C (p.Ser574=)
c.1044T>C (p.Ser348=)
c.1629T>C (p.Ser543=)
c.1498T>C (n.1498T>C)
c.306T>C (p.Ser102=)
c.879T>C (p.Ser293=)
c.1557T>C (p.Ser519=)
c.1680T>C (p.Ser560=)
c.954T>C (p.Ser318=)
c.1560T>C (p.Ser520=)
n.2423+2534A>G
n.1919T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539535T>GCA376072272CACNB2,NSUN6c.1650T>G (p.Ser550Arg)
c.1515T>G (p.Ser505Arg)
c.1638T>G (p.Ser546Arg)
c.1710T>G (p.Ser570Arg)
c.1794T>G (p.Ser598Arg)
c.1632T>G (p.Ser544Arg)
c.1419T>G (p.Ser473Arg)
c.1596T>G (p.Ser532Arg)
c.*935T>G (n.*935T>G)
c.1536T>G (p.Ser512Arg)
c.*1068T>G (n.*1068T>G)
c.1351T>G (n.1351T>G)
c.*1033T>G (n.*1033T>G)
c.1614T>G (p.Ser538Arg)
c.*894T>G (n.*894T>G)
c.1722T>G (p.Ser574Arg)
c.1044T>G (p.Ser348Arg)
c.1629T>G (p.Ser543Arg)
c.1498T>G (n.1498T>G)
c.306T>G (p.Ser102Arg)
c.879T>G (p.Ser293Arg)
c.1557T>G (p.Ser519Arg)
c.1680T>G (p.Ser560Arg)
c.954T>G (p.Ser318Arg)
c.1560T>G (p.Ser520Arg)
n.2423+2534A>C
n.1919T>G
10g.18539535T=CA1894173779CACNB2,NSUN6c.1650T= (p.Ser550=)
c.1515T= (p.Ser505=)
c.1638T= (p.Ser546=)
c.1710T= (p.Ser570=)
c.1794T= (p.Ser598=)
c.1632T= (p.Ser544=)
c.1419T= (p.Ser473=)
c.1596T= (p.Ser532=)
c.*935T= (n.*935T=)
c.1536T= (p.Ser512=)
c.*1068T= (n.*1068T=)
c.1351T= (n.1351T=)
c.*1033T= (n.*1033T=)
c.1614T= (p.Ser538=)
c.*894T= (n.*894T=)
c.1722T= (p.Ser574=)
c.1044T= (p.Ser348=)
c.1629T= (p.Ser543=)
c.1498T= (n.1498T=)
c.306T= (p.Ser102=)
c.879T= (p.Ser293=)
c.1557T= (p.Ser519=)
c.1680T= (p.Ser560=)
c.954T= (p.Ser318=)
c.1560T= (p.Ser520=)
n.2423+2534A=
n.1919T=
10g.18539536G>ACA376072274CACNB2,NSUN6c.1651G>A (p.Asp551Asn)
c.1516G>A (p.Asp506Asn)
c.1639G>A (p.Asp547Asn)
c.1711G>A (p.Asp571Asn)
c.1795G>A (p.Asp599Asn)
c.1633G>A (p.Asp545Asn)
c.1420G>A (p.Asp474Asn)
c.1597G>A (p.Asp533Asn)
c.*936G>A (n.*936G>A)
c.1537G>A (p.Asp513Asn)
c.*1069G>A (n.*1069G>A)
c.1352G>A (n.1352G>A)
c.*1034G>A (n.*1034G>A)
c.1615G>A (p.Asp539Asn)
c.*895G>A (n.*895G>A)
c.1723G>A (p.Asp575Asn)
c.1045G>A (p.Asp349Asn)
c.1630G>A (p.Asp544Asn)
c.1499G>A (n.1499G>A)
c.307G>A (p.Asp103Asn)
c.880G>A (p.Asp294Asn)
c.1558G>A (p.Asp520Asn)
c.1681G>A (p.Asp561Asn)
c.955G>A (p.Asp319Asn)
c.1561G>A (p.Asp521Asn)
n.2423+2533C>T
n.1920G>A
10g.18539536G>CCA376072275CACNB2,NSUN6c.1651G>C (p.Asp551His)
c.1516G>C (p.Asp506His)
c.1639G>C (p.Asp547His)
c.1711G>C (p.Asp571His)
c.1795G>C (p.Asp599His)
c.1633G>C (p.Asp545His)
c.1420G>C (p.Asp474His)
c.1597G>C (p.Asp533His)
c.*936G>C (n.*936G>C)
c.1537G>C (p.Asp513His)
c.*1069G>C (n.*1069G>C)
c.1352G>C (n.1352G>C)
c.*1034G>C (n.*1034G>C)
c.1615G>C (p.Asp539His)
c.*895G>C (n.*895G>C)
c.1723G>C (p.Asp575His)
c.1045G>C (p.Asp349His)
c.1630G>C (p.Asp544His)
c.1499G>C (n.1499G>C)
c.307G>C (p.Asp103His)
c.880G>C (p.Asp294His)
c.1558G>C (p.Asp520His)
c.1681G>C (p.Asp561His)
c.955G>C (p.Asp319His)
c.1561G>C (p.Asp521His)
n.2423+2533C>G
n.1920G>C
10g.18539536G>TCA376072277CACNB2,NSUN6c.1651G>T (p.Asp551Tyr)
c.1516G>T (p.Asp506Tyr)
c.1639G>T (p.Asp547Tyr)
c.1711G>T (p.Asp571Tyr)
c.1795G>T (p.Asp599Tyr)
c.1633G>T (p.Asp545Tyr)
c.1420G>T (p.Asp474Tyr)
c.1597G>T (p.Asp533Tyr)
c.*936G>T (n.*936G>T)
c.1537G>T (p.Asp513Tyr)
c.*1069G>T (n.*1069G>T)
c.1352G>T (n.1352G>T)
c.*1034G>T (n.*1034G>T)
c.1615G>T (p.Asp539Tyr)
c.*895G>T (n.*895G>T)
c.1723G>T (p.Asp575Tyr)
c.1045G>T (p.Asp349Tyr)
c.1630G>T (p.Asp544Tyr)
c.1499G>T (n.1499G>T)
c.307G>T (p.Asp103Tyr)
c.880G>T (p.Asp294Tyr)
c.1558G>T (p.Asp520Tyr)
c.1681G>T (p.Asp561Tyr)
c.955G>T (p.Asp319Tyr)
c.1561G>T (p.Asp521Tyr)
n.2423+2533C>A
n.1920G>T
10g.18539537A>CCA376072288CACNB2,NSUN6c.1652A>C (p.Asp551Ala)
c.1517A>C (p.Asp506Ala)
c.1640A>C (p.Asp547Ala)
c.1712A>C (p.Asp571Ala)
c.1796A>C (p.Asp599Ala)
c.1634A>C (p.Asp545Ala)
c.1421A>C (p.Asp474Ala)
c.1598A>C (p.Asp533Ala)
c.*937A>C (n.*937A>C)
c.1538A>C (p.Asp513Ala)
c.*1070A>C (n.*1070A>C)
c.1353A>C (n.1353A>C)
c.*1035A>C (n.*1035A>C)
c.1616A>C (p.Asp539Ala)
c.*896A>C (n.*896A>C)
c.1724A>C (p.Asp575Ala)
c.1046A>C (p.Asp349Ala)
c.1631A>C (p.Asp544Ala)
c.1500A>C (n.1500A>C)
c.308A>C (p.Asp103Ala)
c.881A>C (p.Asp294Ala)
c.1559A>C (p.Asp520Ala)
c.1682A>C (p.Asp561Ala)
c.956A>C (p.Asp319Ala)
c.1562A>C (p.Asp521Ala)
n.2423+2532T>G
n.1921A>C
10g.18539537A>GCA376072290CACNB2,NSUN6c.1652A>G (p.Asp551Gly)
c.1517A>G (p.Asp506Gly)
c.1640A>G (p.Asp547Gly)
c.1712A>G (p.Asp571Gly)
c.1796A>G (p.Asp599Gly)
c.1634A>G (p.Asp545Gly)
c.1421A>G (p.Asp474Gly)
c.1598A>G (p.Asp533Gly)
c.*937A>G (n.*937A>G)
c.1538A>G (p.Asp513Gly)
c.*1070A>G (n.*1070A>G)
c.1353A>G (n.1353A>G)
c.*1035A>G (n.*1035A>G)
c.1616A>G (p.Asp539Gly)
c.*896A>G (n.*896A>G)
c.1724A>G (p.Asp575Gly)
c.1046A>G (p.Asp349Gly)
c.1631A>G (p.Asp544Gly)
c.1500A>G (n.1500A>G)
c.308A>G (p.Asp103Gly)
c.881A>G (p.Asp294Gly)
c.1559A>G (p.Asp520Gly)
c.1682A>G (p.Asp561Gly)
c.956A>G (p.Asp319Gly)
c.1562A>G (p.Asp521Gly)
n.2423+2532T>C
n.1921A>G
10g.18539537A>TCA376072294CACNB2,NSUN6c.1652A>T (p.Asp551Val)
c.1517A>T (p.Asp506Val)
c.1640A>T (p.Asp547Val)
c.1712A>T (p.Asp571Val)
c.1796A>T (p.Asp599Val)
c.1634A>T (p.Asp545Val)
c.1421A>T (p.Asp474Val)
c.1598A>T (p.Asp533Val)
c.*937A>T (n.*937A>T)
c.1538A>T (p.Asp513Val)
c.*1070A>T (n.*1070A>T)
c.1353A>T (n.1353A>T)
c.*1035A>T (n.*1035A>T)
c.1616A>T (p.Asp539Val)
c.*896A>T (n.*896A>T)
c.1724A>T (p.Asp575Val)
c.1046A>T (p.Asp349Val)
c.1631A>T (p.Asp544Val)
c.1500A>T (n.1500A>T)
c.308A>T (p.Asp103Val)
c.881A>T (p.Asp294Val)
c.1559A>T (p.Asp520Val)
c.1682A>T (p.Asp561Val)
c.956A>T (p.Asp319Val)
c.1562A>T (p.Asp521Val)
n.2423+2532T>A
n.1921A>T
10g.18539538C>ACA376072298CACNB2,NSUN6c.1653C>A (p.Asp551Glu)
c.1518C>A (p.Asp506Glu)
c.1641C>A (p.Asp547Glu)
c.1713C>A (p.Asp571Glu)
c.1797C>A (p.Asp599Glu)
c.1635C>A (p.Asp545Glu)
c.1422C>A (p.Asp474Glu)
c.1599C>A (p.Asp533Glu)
c.*938C>A (n.*938C>A)
c.1539C>A (p.Asp513Glu)
c.*1071C>A (n.*1071C>A)
c.1354C>A (n.1354C>A)
c.*1036C>A (n.*1036C>A)
c.1617C>A (p.Asp539Glu)
c.*897C>A (n.*897C>A)
c.1725C>A (p.Asp575Glu)
c.1047C>A (p.Asp349Glu)
c.1632C>A (p.Asp544Glu)
c.1501C>A (n.1501C>A)
c.309C>A (p.Asp103Glu)
c.882C>A (p.Asp294Glu)
c.1560C>A (p.Asp520Glu)
c.1683C>A (p.Asp561Glu)
c.957C>A (p.Asp319Glu)
c.1563C>A (p.Asp521Glu)
n.2423+2531G>T
n.1922C>A
10g.18539538C=CA1894173785CACNB2,NSUN6c.1653C= (p.Asp551=)
c.1518C= (p.Asp506=)
c.1641C= (p.Asp547=)
c.1713C= (p.Asp571=)
c.1797C= (p.Asp599=)
c.1635C= (p.Asp545=)
c.1422C= (p.Asp474=)
c.1599C= (p.Asp533=)
c.*938C= (n.*938C=)
c.1539C= (p.Asp513=)
c.*1071C= (n.*1071C=)
c.1354C= (n.1354C=)
c.*1036C= (n.*1036C=)
c.1617C= (p.Asp539=)
c.*897C= (n.*897C=)
c.1725C= (p.Asp575=)
c.1047C= (p.Asp349=)
c.1632C= (p.Asp544=)
c.1501C= (n.1501C=)
c.309C= (p.Asp103=)
c.882C= (p.Asp294=)
c.1560C= (p.Asp520=)
c.1683C= (p.Asp561=)
c.957C= (p.Asp319=)
c.1563C= (p.Asp521=)
n.2423+2531G=
n.1922C=
10g.18539538C>GCA376072296CACNB2,NSUN6c.1653C>G (p.Asp551Glu)
c.1518C>G (p.Asp506Glu)
c.1641C>G (p.Asp547Glu)
c.1713C>G (p.Asp571Glu)
c.1797C>G (p.Asp599Glu)
c.1635C>G (p.Asp545Glu)
c.1422C>G (p.Asp474Glu)
c.1599C>G (p.Asp533Glu)
c.*938C>G (n.*938C>G)
c.1539C>G (p.Asp513Glu)
c.*1071C>G (n.*1071C>G)
c.1354C>G (n.1354C>G)
c.*1036C>G (n.*1036C>G)
c.1617C>G (p.Asp539Glu)
c.*897C>G (n.*897C>G)
c.1725C>G (p.Asp575Glu)
c.1047C>G (p.Asp349Glu)
c.1632C>G (p.Asp544Glu)
c.1501C>G (n.1501C>G)
c.309C>G (p.Asp103Glu)
c.882C>G (p.Asp294Glu)
c.1560C>G (p.Asp520Glu)
c.1683C>G (p.Asp561Glu)
c.957C>G (p.Asp319Glu)
c.1563C>G (p.Asp521Glu)
n.2423+2531G>C
n.1922C>G
10g.18539538C>TCA16612851CACNB2,NSUN6c.1653C>T (p.Asp551=)
c.1518C>T (p.Asp506=)
c.1641C>T (p.Asp547=)
c.1713C>T (p.Asp571=)
c.1797C>T (p.Asp599=)
c.1635C>T (p.Asp545=)
c.1422C>T (p.Asp474=)
c.1599C>T (p.Asp533=)
c.*938C>T (n.*938C>T)
c.1539C>T (p.Asp513=)
c.*1071C>T (n.*1071C>T)
c.1354C>T (n.1354C>T)
c.*1036C>T (n.*1036C>T)
c.1617C>T (p.Asp539=)
c.*897C>T (n.*897C>T)
c.1725C>T (p.Asp575=)
c.1047C>T (p.Asp349=)
c.1632C>T (p.Asp544=)
c.1501C>T (n.1501C>T)
c.309C>T (p.Asp103=)
c.882C>T (p.Asp294=)
c.1560C>T (p.Asp520=)
c.1683C>T (p.Asp561=)
c.957C>T (p.Asp319=)
c.1563C>T (p.Asp521=)
n.2423+2531G>A
n.1922C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539540_18539557dupCA2608435634CACNB2,NSUN6c.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
10g.18539539C>ACA376072303CACNB2,NSUN6c.1654C>A (p.His552Asn)
c.1519C>A (p.His507Asn)
c.1642C>A (p.His548Asn)
c.1714C>A (p.His572Asn)
c.1798C>A (p.His600Asn)
c.1636C>A (p.His546Asn)
c.1423C>A (p.His475Asn)
c.1600C>A (p.His534Asn)
c.*939C>A (n.*939C>A)
c.1540C>A (p.His514Asn)
c.*1072C>A (n.*1072C>A)
c.1355C>A (n.1355C>A)
c.*1037C>A (n.*1037C>A)
c.1618C>A (p.His540Asn)
c.*898C>A (n.*898C>A)
c.1726C>A (p.His576Asn)
c.1048C>A (p.His350Asn)
c.1633C>A (p.His545Asn)
c.1502C>A (n.1502C>A)
c.310C>A (p.His104Asn)
c.883C>A (p.His295Asn)
c.1561C>A (p.His521Asn)
c.1684C>A (p.His562Asn)
c.958C>A (p.His320Asn)
c.1564C>A (p.His522Asn)
n.2423+2530G>T
n.1923C>A
10g.18539539C>GCA376072310CACNB2,NSUN6c.1654C>G (p.His552Asp)
c.1519C>G (p.His507Asp)
c.1642C>G (p.His548Asp)
c.1714C>G (p.His572Asp)
c.1798C>G (p.His600Asp)
c.1636C>G (p.His546Asp)
c.1423C>G (p.His475Asp)
c.1600C>G (p.His534Asp)
c.*939C>G (n.*939C>G)
c.1540C>G (p.His514Asp)
c.*1072C>G (n.*1072C>G)
c.1355C>G (n.1355C>G)
c.*1037C>G (n.*1037C>G)
c.1618C>G (p.His540Asp)
c.*898C>G (n.*898C>G)
c.1726C>G (p.His576Asp)
c.1048C>G (p.His350Asp)
c.1633C>G (p.His545Asp)
c.1502C>G (n.1502C>G)
c.310C>G (p.His104Asp)
c.883C>G (p.His295Asp)
c.1561C>G (p.His521Asp)
c.1684C>G (p.His562Asp)
c.958C>G (p.His320Asp)
c.1564C>G (p.His522Asp)
n.2423+2530G>C
n.1923C>G
10g.18539539C>TCA376072313CACNB2,NSUN6c.1654C>T (p.His552Tyr)
c.1519C>T (p.His507Tyr)
c.1642C>T (p.His548Tyr)
c.1714C>T (p.His572Tyr)
c.1798C>T (p.His600Tyr)
c.1636C>T (p.His546Tyr)
c.1423C>T (p.His475Tyr)
c.1600C>T (p.His534Tyr)
c.*939C>T (n.*939C>T)
c.1540C>T (p.His514Tyr)
c.*1072C>T (n.*1072C>T)
c.1355C>T (n.1355C>T)
c.*1037C>T (n.*1037C>T)
c.1618C>T (p.His540Tyr)
c.*898C>T (n.*898C>T)
c.1726C>T (p.His576Tyr)
c.1048C>T (p.His350Tyr)
c.1633C>T (p.His545Tyr)
c.1502C>T (n.1502C>T)
c.310C>T (p.His104Tyr)
c.883C>T (p.His295Tyr)
c.1561C>T (p.His521Tyr)
c.1684C>T (p.His562Tyr)
c.958C>T (p.His320Tyr)
c.1564C>T (p.His522Tyr)
n.2423+2530G>A
n.1923C>T
 gnomAD v4
10g.18539544_18539549delCA2608435635CACNB2,NSUN6c.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
10g.18539540A>CCA376072315CACNB2,NSUN6c.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
10g.18539540A>GCA376072318CACNB2,NSUN6c.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
10g.18539540A>TCA376072320CACNB2,NSUN6c.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
10g.18539541C>ACA376072323CACNB2,NSUN6c.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
10g.18539541C>GCA376072324CACNB2,NSUN6c.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
10g.18539541C>TCA468630053CACNB2,NSUN6c.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
10g.18539542A>CCA468630058CACNB2,NSUN6c.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
10g.18539542A>GCA376072327CACNB2,NSUN6c.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
10g.18539542A>TCA376072329CACNB2,NSUN6c.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
10g.18539543G>ACA376072333CACNB2,NSUN6c.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
10g.18539543G>CCA376072334CACNB2,NSUN6c.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
10g.18539543G>TCA376072337CACNB2,NSUN6c.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
10g.18539544A=CA1894173793CACNB2,NSUN6c.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=
10g.18539544A>CCA376072339CACNB2,NSUN6c.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
10g.18539544A>GCA468649566CACNB2,NSUN6c.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
10g.18539544A>TCA376072340CACNB2,NSUN6c.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
10g.18539544_18539559delinsACACAGGGAGTCCCGGCA1894173796CACNB2,NSUN6c.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
10g.18539545C>ACA376072342CACNB2,NSUN6c.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
10g.18539545C=CA1894173801CACNB2,NSUN6c.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=
10g.18539545C>GCA5430173CACNB2,NSUN6c.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
10g.18539545C>TCA203167334CACNB2,NSUN6c.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
10g.18539548_18539562delCA5430172CACNB2,NSUN6c.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
10g.18539546A>CCA376072348CACNB2,NSUN6c.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
10g.18539546A>GCA376072350CACNB2,NSUN6c.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
10g.18539546A>TCA376072360CACNB2,NSUN6c.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
10g.18539547C>ACA376072362CACNB2,NSUN6c.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
10g.18539547C=CA1894173805CACNB2,NSUN6c.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=
10g.18539547C>GCA376072364CACNB2,NSUN6c.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
10g.18539547C>TCA468649571CACNB2,NSUN6c.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
10g.18539548A>CCA468649572CACNB2,NSUN6c.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
10g.18539548A>GCA376072366CACNB2,NSUN6c.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
10g.18539548A>TCA376072369CACNB2,NSUN6c.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
10g.18539549G>ACA376072372CACNB2,NSUN6c.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
10g.18539549G>CCA376072375CACNB2,NSUN6c.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
10g.18539549G=CA1894173808CACNB2,NSUN6c.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=
10g.18539549G>TCA376072376CACNB2,NSUN6c.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
10g.18539550G>ACA468649574CACNB2,NSUN6c.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
10g.18539550G>CCA376072379CACNB2,NSUN6c.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
10g.18539550G=CA1894173812CACNB2,NSUN6c.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=
10g.18539550G>TCA376072381CACNB2,NSUN6c.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
10g.18539551G>ACA376072383CACNB2,NSUN6c.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
10g.18539551G>CCA376072385CACNB2,NSUN6c.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
10g.18539551G=CA1894173814CACNB2,NSUN6c.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=
10g.18539551G>TCA376072389CACNB2,NSUN6c.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
10g.18539552A>CCA376072393CACNB2,NSUN6c.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
10g.18539552A>GCA376072396CACNB2,NSUN6c.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
10g.18539552A>TCA376072398CACNB2,NSUN6c.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
10g.18539553G>ACA5430174CACNB2,NSUN6c.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
10g.18539553G>CCA376072400CACNB2,NSUN6c.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
10g.18539553G=CA1894173816CACNB2,NSUN6c.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=
10g.18539553G>TCA376072402CACNB2,NSUN6c.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
10g.18539554T>ACA376072404CACNB2,NSUN6c.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
10g.18539554T>CCA376072405CACNB2,NSUN6c.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
10g.18539554T>GCA376072407CACNB2,NSUN6c.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
10g.18539555C>ACA376072412CACNB2,NSUN6c.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
10g.18539555C=CA1894173820CACNB2,NSUN6c.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=
10g.18539555C>GCA5430175CACNB2,NSUN6c.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
10g.18539555C>TCA5430176CACNB2,NSUN6c.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
10g.18539555_18539561delinsCCCGGCACA1894173821CACNB2,NSUN6c.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
10g.18539556C>ACA468649584CACNB2,NSUN6c.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
10g.18539556C>GCA468649583CACNB2,NSUN6c.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
10g.18539556C>TCA468649582CACNB2,NSUN6c.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
10g.18539559_18539564delCA662520707CACNB2,NSUN6c.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
10g.18539557C>ACA468649586CACNB2,NSUN6c.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
10g.18539557C=CA1894173827CACNB2,NSUN6c.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=
10g.18539557C>GCA199942CACNB2,NSUN6c.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
10g.18539557C>TCA235689CACNB2,NSUN6c.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
10g.18539558G>ACA5430177CACNB2,NSUN6c.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
10g.18539558G>CCA5430178CACNB2,NSUN6c.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
10g.18539558G=CA1894173834CACNB2,NSUN6c.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=
10g.18539558G>TCA376072421CACNB2,NSUN6c.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
10g.18539558delinsTGTGTCA2580081382CACNB2,NSUN6c.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
10g.18539559G>ACA468649591CACNB2,NSUN6c.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
10g.18539559G>CCA468649590CACNB2,NSUN6c.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
10g.18539559G=CA1894173841CACNB2,NSUN6c.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=
10g.18539559G>TCA468649589CACNB2,NSUN6c.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
10g.18539560C>ACA376072425CACNB2,NSUN6c.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
10g.18539560C=CA1894173846CACNB2,NSUN6c.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=
10g.18539560C>GCA376072427CACNB2,NSUN6c.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
10g.18539560C>TCA376072430CACNB2,NSUN6c.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
10g.18539561A>CCA376072437CACNB2,NSUN6c.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
10g.18539561A>GCA376072433CACNB2,NSUN6c.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
10g.18539561A>TCA376072435CACNB2,NSUN6c.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
10g.18539563_18539574dupCA1894173849CACNB2,NSUN6c.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
10g.18539562C>ACA376072440CACNB2,NSUN6c.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
10g.18539562C>GCA376072443CACNB2,NSUN6c.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
10g.18539562C>TCA468649593CACNB2,NSUN6c.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
10g.18539563C>ACA376072446CACNB2,NSUN6c.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
10g.18539563C=CA1894173853CACNB2,NSUN6c.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=
10g.18539563C>GCA376072449CACNB2,NSUN6c.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
10g.18539563C>TCA203167351CACNB2,NSUN6c.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
10g.18539564G>ACA5430179CACNB2,NSUN6c.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
10g.18539564G>CCA376072459CACNB2,NSUN6c.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
10g.18539564G=CA1894173863CACNB2,NSUN6c.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=
10g.18539564G>TCA376072456CACNB2,NSUN6c.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
10g.18539565T>ACA468649597CACNB2,NSUN6c.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
10g.18539565T>CCA468649598CACNB2,NSUN6c.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
10g.18539565T>GCA468649599CACNB2,NSUN6c.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
10g.18539565T=CA1894173869CACNB2,NSUN6c.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=
10g.18539566T>ACA16618948CACNB2,NSUN6c.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
10g.18539566T>CCA376072467CACNB2,NSUN6c.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
10g.18539566T>GCA376072470CACNB2,NSUN6c.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
10g.18539566T=CA1894173874CACNB2,NSUN6c.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=
10g.18539567C>ACA376072473CACNB2,NSUN6c.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
10g.18539567C>GCA376072474CACNB2,NSUN6c.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
10g.18539567C>TCA376072477CACNB2,NSUN6c.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
10g.18539568C>ACA468649603CACNB2,NSUN6c.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
10g.18539568C=CA1894173878CACNB2,NSUN6c.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=
10g.18539568C>GCA468649604CACNB2,NSUN6c.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
10g.18539568C>TCA203167355CACNB2,NSUN6c.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
10g.18539569C>ACA468649605CACNB2,NSUN6c.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
10g.18539569C=CA1894173886CACNB2,NSUN6c.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=
10g.18539569C>GCA376072479CACNB2,NSUN6c.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
10g.18539569C>TCA16616914CACNB2,NSUN6c.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
10g.18539570G>ACA5430180CACNB2,NSUN6c.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
10g.18539570G>CCA376072486CACNB2,NSUN6c.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
10g.18539570G=CA1894173898CACNB2,NSUN6c.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=
10g.18539570G>TCA376072488CACNB2,NSUN6c.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
10g.18539572delCA2608435661CACNB2,NSUN6c.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
10g.18539571G>ACA468649607CACNB2,NSUN6c.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
10g.18539571G>CCA468649609CACNB2,NSUN6c.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
10g.18539571G>TCA468649611CACNB2,NSUN6c.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
10g.18539574_18539579dupCA592060477CACNB2,NSUN6c.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
10g.18539572G>ACA376072490CACNB2,NSUN6c.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
10g.18539572G>CCA376072496CACNB2,NSUN6c.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
10g.18539572G=CA1894173905CACNB2,NSUN6c.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=
10g.18539572G>TCA376072493CACNB2,NSUN6c.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
10g.18539573A>CCA376072499CACNB2,NSUN6c.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
10g.18539573A>GCA376072500CACNB2,NSUN6c.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
10g.18539573A>TCA376072503CACNB2,NSUN6c.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
10g.18539576_18539599dupCA2608435667CACNB2,NSUN6c.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
10g.18539574C>ACA376072506CACNB2,NSUN6c.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
10g.18539574C=CA1894173911CACNB2,NSUN6c.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=
10g.18539574C>GCA376072508CACNB2,NSUN6c.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
10g.18539574C>TCA5430181CACNB2,NSUN6c.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
10g.18539575G>ACA376072512CACNB2,NSUN6c.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
10g.18539575G>CCA376072515CACNB2,NSUN6c.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
10g.18539575G=CA1894173921CACNB2,NSUN6c.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=
10g.18539575G>TCA376072517CACNB2,NSUN6c.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
10g.18539576T>ACA376072519CACNB2,NSUN6c.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
10g.18539576T>CCA376072521CACNB2,NSUN6c.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
10g.18539576T>GCA376072524CACNB2,NSUN6c.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
10g.18539577G>ACA468649622CACNB2,NSUN6c.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
10g.18539577G>CCA468649620CACNB2,NSUN6c.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
10g.18539577G=CA1894173924CACNB2,NSUN6c.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=
10g.18539577G>TCA468649618CACNB2,NSUN6c.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
10g.18539578G>ACA376072530CACNB2,NSUN6c.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
10g.18539578G>CCA376072529CACNB2,NSUN6c.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
10g.18539578G>TCA376072526CACNB2,NSUN6c.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
10g.18539579A=CA1894173931CACNB2,NSUN6c.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=
10g.18539579A>CCA5430182CACNB2,NSUN6c.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
10g.18539579A>GCA376072535CACNB2,NSUN6c.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
10g.18539579A>TCA376072537CACNB2,NSUN6c.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
10g.18539580T>ACA376072540CACNB2,NSUN6c.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
10g.18539580T>CCA468649627CACNB2,NSUN6c.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
10g.18539580T>GCA376072542CACNB2,NSUN6c.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
10g.18539581C>ACA468649628CACNB2,NSUN6c.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
10g.18539581C=CA1894173937CACNB2,NSUN6c.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=
10g.18539581C>GCA376072543CACNB2,NSUN6c.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
10g.18539581C>TCA5430183CACNB2,NSUN6c.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
10g.18539582G>ACA301883CACNB2,NSUN6c.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
10g.18539582G>CCA376072549CACNB2,NSUN6c.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
10g.18539582G=CA1894173943CACNB2,NSUN6c.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=
10g.18539582G>TCA376072550CACNB2,NSUN6c.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
10g.18539582_18539590dupCA1894173945CACNB2,NSUN6c.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
10g.18539583A>CCA468649630CACNB2,NSUN6c.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
10g.18539583A>GCA468649631CACNB2,NSUN6c.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
10g.18539583A>TCA468649633CACNB2,NSUN6c.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
10g.18539584G>ACA376072553CACNB2,NSUN6c.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
10g.18539584G>CCA376072556CACNB2,NSUN6c.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
10g.18539584G=CA1894173951CACNB2,NSUN6c.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=
10g.18539584G>TCA376072558CACNB2,NSUN6c.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
10g.18539585A=CA1894173955CACNB2,NSUN6c.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=
10g.18539585A>CCA376072567CACNB2,NSUN6c.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
10g.18539585A>GCA376072563CACNB2,NSUN6c.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
10g.18539585A>TCA376072561CACNB2,NSUN6c.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
10g.18539586G>ACA468649638CACNB2,NSUN6c.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
10g.18539586G>CCA376072570CACNB2,NSUN6c.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
10g.18539586G=CA1894173960CACNB2,NSUN6c.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=
10g.18539586G>TCA376072571CACNB2,NSUN6c.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
10g.18539587C>ACA376072575CACNB2,NSUN6c.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
10g.18539587C=CA1894173963CACNB2,NSUN6c.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=
10g.18539587C>GCA203167368CACNB2,NSUN6c.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
10g.18539587C>TCA376072578CACNB2,NSUN6c.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
10g.18539588A=CA1894173968CACNB2,NSUN6c.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=
10g.18539588A>CCA376072580CACNB2,NSUN6c.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
10g.18539588A>GCA376072582CACNB2,NSUN6c.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
10g.18539588A>TCA376072585CACNB2,NSUN6c.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
10g.18539589G>ACA468649643CACNB2,NSUN6c.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
10g.18539589G>CCA376072586CACNB2,NSUN6c.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
10g.18539589G=CA1894173970CACNB2,NSUN6c.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=
10g.18539589G>TCA376072588CACNB2,NSUN6c.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
10g.18539590G>ACA376072590CACNB2,NSUN6c.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
10g.18539590G>CCA376072591CACNB2,NSUN6c.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
10g.18539590G>TCA376072593CACNB2,NSUN6c.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
10g.18539592_18539600dupCA16613037CACNB2,NSUN6c.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
10g.18539591A>CCA376072596CACNB2,NSUN6c.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
10g.18539591A>GCA376072599CACNB2,NSUN6c.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
10g.18539591A>TCA376072602CACNB2,NSUN6c.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
10g.18539592C>ACA376072604CACNB2,NSUN6c.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
10g.18539592C=CA1894173978CACNB2,NSUN6c.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=
10g.18539592C>GCA5430184CACNB2,NSUN6c.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
10g.18539592C>TCA468649651CACNB2,NSUN6c.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
10g.18539593C>ACA376072612CACNB2,NSUN6c.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
10g.18539593C>GCA376072614CACNB2,NSUN6c.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
10g.18539593C>TCA376072617CACNB2,NSUN6c.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
10g.18539593_18539596delinsCACACA1894173980CACNB2,NSUN6c.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
10g.18539593_18539602delinsCACAACGAGTCA1894173982CACNB2,NSUN6c.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
10g.18539594A=CA1894173993CACNB2,NSUN6c.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=
10g.18539594A>CCA376072619CACNB2,NSUN6c.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
10g.18539594A>GCA376072622CACNB2,NSUN6c.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
10g.18539594A>TCA376072625CACNB2,NSUN6c.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
10g.18539596_18539598delCA5430185CACNB2,NSUN6c.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
10g.18539594_18539602delCA592060478CACNB2,NSUN6c.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

Number of alleles fetched