Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.18539418C>ACA468628993CACNB2,NSUN6c.1533C>A (p.Thr511=)
c.1398C>A (p.Thr466=)
c.1521C>A (p.Thr507=)
c.1593C>A (p.Thr531=)
c.1677C>A (p.Thr559=)
c.1515C>A (p.Thr505=)
c.1302C>A (p.Thr434=)
c.1479C>A (p.Thr493=)
c.*818C>A (n.*818C>A)
c.1419C>A (p.Thr473=)
c.*951C>A (n.*951C>A)
c.1234C>A (n.1234C>A)
c.*916C>A (n.*916C>A)
c.1497C>A (p.Thr499=)
c.*777C>A (n.*777C>A)
c.1605C>A (p.Thr535=)
c.927C>A (p.Thr309=)
c.1512C>A (p.Thr504=)
c.1381C>A (n.1381C>A)
c.189C>A (p.Thr63=)
c.762C>A (p.Thr254=)
c.1440C>A (p.Thr480=)
c.1563C>A (p.Thr521=)
c.837C>A (p.Thr279=)
c.1443C>A (p.Thr481=)
n.2423+2651G>T
n.1802C>A
10g.18539418C>GCA468629002CACNB2,NSUN6c.1533C>G (p.Thr511=)
c.1398C>G (p.Thr466=)
c.1521C>G (p.Thr507=)
c.1593C>G (p.Thr531=)
c.1677C>G (p.Thr559=)
c.1515C>G (p.Thr505=)
c.1302C>G (p.Thr434=)
c.1479C>G (p.Thr493=)
c.*818C>G (n.*818C>G)
c.1419C>G (p.Thr473=)
c.*951C>G (n.*951C>G)
c.1234C>G (n.1234C>G)
c.*916C>G (n.*916C>G)
c.1497C>G (p.Thr499=)
c.*777C>G (n.*777C>G)
c.1605C>G (p.Thr535=)
c.927C>G (p.Thr309=)
c.1512C>G (p.Thr504=)
c.1381C>G (n.1381C>G)
c.189C>G (p.Thr63=)
c.762C>G (p.Thr254=)
c.1440C>G (p.Thr480=)
c.1563C>G (p.Thr521=)
c.837C>G (p.Thr279=)
c.1443C>G (p.Thr481=)
n.2423+2651G>C
n.1802C>G
10g.18539418C>TCA468629005CACNB2,NSUN6c.1533C>T (p.Thr511=)
c.1398C>T (p.Thr466=)
c.1521C>T (p.Thr507=)
c.1593C>T (p.Thr531=)
c.1677C>T (p.Thr559=)
c.1515C>T (p.Thr505=)
c.1302C>T (p.Thr434=)
c.1479C>T (p.Thr493=)
c.*818C>T (n.*818C>T)
c.1419C>T (p.Thr473=)
c.*951C>T (n.*951C>T)
c.1234C>T (n.1234C>T)
c.*916C>T (n.*916C>T)
c.1497C>T (p.Thr499=)
c.*777C>T (n.*777C>T)
c.1605C>T (p.Thr535=)
c.927C>T (p.Thr309=)
c.1512C>T (p.Thr504=)
c.1381C>T (n.1381C>T)
c.189C>T (p.Thr63=)
c.762C>T (p.Thr254=)
c.1440C>T (p.Thr480=)
c.1563C>T (p.Thr521=)
c.837C>T (p.Thr279=)
c.1443C>T (p.Thr481=)
n.2423+2651G>A
n.1802C>T
10g.18539419C>ACA376071719CACNB2,NSUN6c.1534C>A (p.Gln512Lys)
c.1399C>A (p.Gln467Lys)
c.1522C>A (p.Gln508Lys)
c.1594C>A (p.Gln532Lys)
c.1678C>A (p.Gln560Lys)
c.1516C>A (p.Gln506Lys)
c.1303C>A (p.Gln435Lys)
c.1480C>A (p.Gln494Lys)
c.*819C>A (n.*819C>A)
c.1420C>A (p.Gln474Lys)
c.*952C>A (n.*952C>A)
c.1235C>A (n.1235C>A)
c.*917C>A (n.*917C>A)
c.1498C>A (p.Gln500Lys)
c.*778C>A (n.*778C>A)
c.1606C>A (p.Gln536Lys)
c.928C>A (p.Gln310Lys)
c.1513C>A (p.Gln505Lys)
c.1382C>A (n.1382C>A)
c.190C>A (p.Gln64Lys)
c.763C>A (p.Gln255Lys)
c.1441C>A (p.Gln481Lys)
c.1564C>A (p.Gln522Lys)
c.838C>A (p.Gln280Lys)
c.1444C>A (p.Gln482Lys)
n.2423+2650G>T
n.1803C>A
10g.18539419C>GCA376071720CACNB2,NSUN6c.1534C>G (p.Gln512Glu)
c.1399C>G (p.Gln467Glu)
c.1522C>G (p.Gln508Glu)
c.1594C>G (p.Gln532Glu)
c.1678C>G (p.Gln560Glu)
c.1516C>G (p.Gln506Glu)
c.1303C>G (p.Gln435Glu)
c.1480C>G (p.Gln494Glu)
c.*819C>G (n.*819C>G)
c.1420C>G (p.Gln474Glu)
c.*952C>G (n.*952C>G)
c.1235C>G (n.1235C>G)
c.*917C>G (n.*917C>G)
c.1498C>G (p.Gln500Glu)
c.*778C>G (n.*778C>G)
c.1606C>G (p.Gln536Glu)
c.928C>G (p.Gln310Glu)
c.1513C>G (p.Gln505Glu)
c.1382C>G (n.1382C>G)
c.190C>G (p.Gln64Glu)
c.763C>G (p.Gln255Glu)
c.1441C>G (p.Gln481Glu)
c.1564C>G (p.Gln522Glu)
c.838C>G (p.Gln280Glu)
c.1444C>G (p.Gln482Glu)
n.2423+2650G>C
n.1803C>G
10g.18539419C>TCA376071722CACNB2,NSUN6c.1534C>T (p.Gln512Ter)
c.1399C>T (p.Gln467Ter)
c.1522C>T (p.Gln508Ter)
c.1594C>T (p.Gln532Ter)
c.1678C>T (p.Gln560Ter)
c.1516C>T (p.Gln506Ter)
c.1303C>T (p.Gln435Ter)
c.1480C>T (p.Gln494Ter)
c.*819C>T (n.*819C>T)
c.1420C>T (p.Gln474Ter)
c.*952C>T (n.*952C>T)
c.1235C>T (n.1235C>T)
c.*917C>T (n.*917C>T)
c.1498C>T (p.Gln500Ter)
c.*778C>T (n.*778C>T)
c.1606C>T (p.Gln536Ter)
c.928C>T (p.Gln310Ter)
c.1513C>T (p.Gln505Ter)
c.1382C>T (n.1382C>T)
c.190C>T (p.Gln64Ter)
c.763C>T (p.Gln255Ter)
c.1441C>T (p.Gln481Ter)
c.1564C>T (p.Gln522Ter)
c.838C>T (p.Gln280Ter)
c.1444C>T (p.Gln482Ter)
n.2423+2650G>A
n.1803C>T
10g.18539419_18539422delinsCAGGCA1894173312CACNB2,NSUN6c.1534_1537delinsCAGG (p.Gln512=)
c.1399_1402delinsCAGG (p.Gln467=)
c.1522_1525delinsCAGG (p.Gln508=)
c.1594_1597delinsCAGG (p.Gln532=)
c.1678_1681delinsCAGG (p.Gln560=)
c.1516_1519delinsCAGG (p.Gln506=)
c.1303_1306delinsCAGG (p.Gln435=)
c.1480_1483delinsCAGG (p.Gln494=)
c.*819_*822delinsCAGG (n.*819_*822delinsCAGG)
c.1420_1423delinsCAGG (p.Gln474=)
c.*952_*955delinsCAGG (n.*952_*955delinsCAGG)
c.1235_1238delinsCAGG (n.1235_1238delinsCAGG)
c.*917_*920delinsCAGG (n.*917_*920delinsCAGG)
c.1498_1501delinsCAGG (p.Gln500=)
c.*778_*781delinsCAGG (n.*778_*781delinsCAGG)
c.1606_1609delinsCAGG (p.Gln536=)
c.928_931delinsCAGG (p.Gln310=)
c.1513_1516delinsCAGG (p.Gln505=)
c.1382_1385delinsCAGG (n.1382_1385delinsCAGG)
c.190_193delinsCAGG (p.Gln64=)
c.763_766delinsCAGG (p.Gln255=)
c.1441_1444delinsCAGG (p.Gln481=)
c.1564_1567delinsCAGG (p.Gln522=)
c.838_841delinsCAGG (p.Gln280=)
c.1444_1447delinsCAGG (p.Gln482=)
n.2423+2647_2423+2650delinsCCTG
n.1803_1806delinsCAGG
10g.18539420A=CA1894173320CACNB2,NSUN6c.1535A= (p.Gln512=)
c.1400A= (p.Gln467=)
c.1523A= (p.Gln508=)
c.1595A= (p.Gln532=)
c.1679A= (p.Gln560=)
c.1517A= (p.Gln506=)
c.1304A= (p.Gln435=)
c.1481A= (p.Gln494=)
c.*820A= (n.*820A=)
c.1421A= (p.Gln474=)
c.*953A= (n.*953A=)
c.1236A= (n.1236A=)
c.*918A= (n.*918A=)
c.1499A= (p.Gln500=)
c.*779A= (n.*779A=)
c.1607A= (p.Gln536=)
c.929A= (p.Gln310=)
c.1514A= (p.Gln505=)
c.1383A= (n.1383A=)
c.191A= (p.Gln64=)
c.764A= (p.Gln255=)
c.1442A= (p.Gln481=)
c.1565A= (p.Gln522=)
c.839A= (p.Gln280=)
c.1445A= (p.Gln482=)
n.2423+2649T=
n.1804A=
10g.18539420A>CCA376071723CACNB2,NSUN6c.1535A>C (p.Gln512Pro)
c.1400A>C (p.Gln467Pro)
c.1523A>C (p.Gln508Pro)
c.1595A>C (p.Gln532Pro)
c.1679A>C (p.Gln560Pro)
c.1517A>C (p.Gln506Pro)
c.1304A>C (p.Gln435Pro)
c.1481A>C (p.Gln494Pro)
c.*820A>C (n.*820A>C)
c.1421A>C (p.Gln474Pro)
c.*953A>C (n.*953A>C)
c.1236A>C (n.1236A>C)
c.*918A>C (n.*918A>C)
c.1499A>C (p.Gln500Pro)
c.*779A>C (n.*779A>C)
c.1607A>C (p.Gln536Pro)
c.929A>C (p.Gln310Pro)
c.1514A>C (p.Gln505Pro)
c.1383A>C (n.1383A>C)
c.191A>C (p.Gln64Pro)
c.764A>C (p.Gln255Pro)
c.1442A>C (p.Gln481Pro)
c.1565A>C (p.Gln522Pro)
c.839A>C (p.Gln280Pro)
c.1445A>C (p.Gln482Pro)
n.2423+2649T>G
n.1804A>C
10g.18539420A>GCA5430125CACNB2,NSUN6c.1535A>G (p.Gln512Arg)
c.1400A>G (p.Gln467Arg)
c.1523A>G (p.Gln508Arg)
c.1595A>G (p.Gln532Arg)
c.1679A>G (p.Gln560Arg)
c.1517A>G (p.Gln506Arg)
c.1304A>G (p.Gln435Arg)
c.1481A>G (p.Gln494Arg)
c.*820A>G (n.*820A>G)
c.1421A>G (p.Gln474Arg)
c.*953A>G (n.*953A>G)
c.1236A>G (n.1236A>G)
c.*918A>G (n.*918A>G)
c.1499A>G (p.Gln500Arg)
c.*779A>G (n.*779A>G)
c.1607A>G (p.Gln536Arg)
c.929A>G (p.Gln310Arg)
c.1514A>G (p.Gln505Arg)
c.1383A>G (n.1383A>G)
c.191A>G (p.Gln64Arg)
c.764A>G (p.Gln255Arg)
c.1442A>G (p.Gln481Arg)
c.1565A>G (p.Gln522Arg)
c.839A>G (p.Gln280Arg)
c.1445A>G (p.Gln482Arg)
n.2423+2649T>C
n.1804A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539420A>TCA376071724CACNB2,NSUN6c.1535A>T (p.Gln512Leu)
c.1400A>T (p.Gln467Leu)
c.1523A>T (p.Gln508Leu)
c.1595A>T (p.Gln532Leu)
c.1679A>T (p.Gln560Leu)
c.1517A>T (p.Gln506Leu)
c.1304A>T (p.Gln435Leu)
c.1481A>T (p.Gln494Leu)
c.*820A>T (n.*820A>T)
c.1421A>T (p.Gln474Leu)
c.*953A>T (n.*953A>T)
c.1236A>T (n.1236A>T)
c.*918A>T (n.*918A>T)
c.1499A>T (p.Gln500Leu)
c.*779A>T (n.*779A>T)
c.1607A>T (p.Gln536Leu)
c.929A>T (p.Gln310Leu)
c.1514A>T (p.Gln505Leu)
c.1383A>T (n.1383A>T)
c.191A>T (p.Gln64Leu)
c.764A>T (p.Gln255Leu)
c.1442A>T (p.Gln481Leu)
c.1565A>T (p.Gln522Leu)
c.839A>T (p.Gln280Leu)
c.1445A>T (p.Gln482Leu)
n.2423+2649T>A
n.1804A>T
10g.18539422_18539424delCA1894173319CACNB2,NSUN6c.1537_1539del (p.Glu513del)
c.1402_1404del (p.Glu468del)
c.1525_1527del (p.Glu509del)
c.1597_1599del (p.Glu533del)
c.1681_1683del (p.Glu561del)
c.1519_1521del (p.Glu507del)
c.1306_1308del (p.Glu436del)
c.1483_1485del (p.Glu495del)
c.*822_*824del (n.*822_*824del)
c.1423_1425del (p.Glu475del)
c.*955_*957del (n.*955_*957del)
c.1238_1240del (n.1238_1240del)
c.*920_*922del (n.*920_*922del)
c.1501_1503del (p.Glu501del)
c.*781_*783del (n.*781_*783del)
c.1609_1611del (p.Glu537del)
c.931_933del (p.Glu311del)
c.1516_1518del (p.Glu506del)
c.1385_1387del (n.1385_1387del)
c.193_195del (p.Glu65del)
c.766_768del (p.Glu256del)
c.1444_1446del (p.Glu482del)
c.1567_1569del (p.Glu523del)
c.841_843del (p.Glu281del)
c.1447_1449del (p.Glu483del)
n.2423+2647_2423+2649del
n.1806_1808del
 dbSNP
10g.18539421G>ACA468629012CACNB2,NSUN6c.1536G>A (p.Gln512=)
c.1401G>A (p.Gln467=)
c.1524G>A (p.Gln508=)
c.1596G>A (p.Gln532=)
c.1680G>A (p.Gln560=)
c.1518G>A (p.Gln506=)
c.1305G>A (p.Gln435=)
c.1482G>A (p.Gln494=)
c.*821G>A (n.*821G>A)
c.1422G>A (p.Gln474=)
c.*954G>A (n.*954G>A)
c.1237G>A (n.1237G>A)
c.*919G>A (n.*919G>A)
c.1500G>A (p.Gln500=)
c.*780G>A (n.*780G>A)
c.1608G>A (p.Gln536=)
c.930G>A (p.Gln310=)
c.1515G>A (p.Gln505=)
c.1384G>A (n.1384G>A)
c.192G>A (p.Gln64=)
c.765G>A (p.Gln255=)
c.1443G>A (p.Gln481=)
c.1566G>A (p.Gln522=)
c.840G>A (p.Gln280=)
c.1446G>A (p.Gln482=)
n.2423+2648C>T
n.1805G>A
10g.18539421G>CCA376071728CACNB2,NSUN6c.1536G>C (p.Gln512His)
c.1401G>C (p.Gln467His)
c.1524G>C (p.Gln508His)
c.1596G>C (p.Gln532His)
c.1680G>C (p.Gln560His)
c.1518G>C (p.Gln506His)
c.1305G>C (p.Gln435His)
c.1482G>C (p.Gln494His)
c.*821G>C (n.*821G>C)
c.1422G>C (p.Gln474His)
c.*954G>C (n.*954G>C)
c.1237G>C (n.1237G>C)
c.*919G>C (n.*919G>C)
c.1500G>C (p.Gln500His)
c.*780G>C (n.*780G>C)
c.1608G>C (p.Gln536His)
c.930G>C (p.Gln310His)
c.1515G>C (p.Gln505His)
c.1384G>C (n.1384G>C)
c.192G>C (p.Gln64His)
c.765G>C (p.Gln255His)
c.1443G>C (p.Gln481His)
c.1566G>C (p.Gln522His)
c.840G>C (p.Gln280His)
c.1446G>C (p.Gln482His)
n.2423+2648C>G
n.1805G>C
10g.18539421G=CA1894173322CACNB2,NSUN6c.1536G= (p.Gln512=)
c.1401G= (p.Gln467=)
c.1524G= (p.Gln508=)
c.1596G= (p.Gln532=)
c.1680G= (p.Gln560=)
c.1518G= (p.Gln506=)
c.1305G= (p.Gln435=)
c.1482G= (p.Gln494=)
c.*821G= (n.*821G=)
c.1422G= (p.Gln474=)
c.*954G= (n.*954G=)
c.1237G= (n.1237G=)
c.*919G= (n.*919G=)
c.1500G= (p.Gln500=)
c.*780G= (n.*780G=)
c.1608G= (p.Gln536=)
c.930G= (p.Gln310=)
c.1515G= (p.Gln505=)
c.1384G= (n.1384G=)
c.192G= (p.Gln64=)
c.765G= (p.Gln255=)
c.1443G= (p.Gln481=)
c.1566G= (p.Gln522=)
c.840G= (p.Gln280=)
c.1446G= (p.Gln482=)
n.2423+2648C=
n.1805G=
10g.18539421G>TCA376071726CACNB2,NSUN6c.1536G>T (p.Gln512His)
c.1401G>T (p.Gln467His)
c.1524G>T (p.Gln508His)
c.1596G>T (p.Gln532His)
c.1680G>T (p.Gln560His)
c.1518G>T (p.Gln506His)
c.1305G>T (p.Gln435His)
c.1482G>T (p.Gln494His)
c.*821G>T (n.*821G>T)
c.1422G>T (p.Gln474His)
c.*954G>T (n.*954G>T)
c.1237G>T (n.1237G>T)
c.*919G>T (n.*919G>T)
c.1500G>T (p.Gln500His)
c.*780G>T (n.*780G>T)
c.1608G>T (p.Gln536His)
c.930G>T (p.Gln310His)
c.1515G>T (p.Gln505His)
c.1384G>T (n.1384G>T)
c.192G>T (p.Gln64His)
c.765G>T (p.Gln255His)
c.1443G>T (p.Gln481His)
c.1566G>T (p.Gln522His)
c.840G>T (p.Gln280His)
c.1446G>T (p.Gln482His)
n.2423+2648C>A
n.1805G>T
10g.18539422delCA2574454585CACNB2,NSUN6c.1537del (p.Glu513ArgfsTer8)
c.1402del (p.Glu468ArgfsTer8)
c.1525del (p.Glu509ArgfsTer8)
c.1597del (p.Glu533ArgfsTer8)
c.1681del (p.Glu561ArgfsTer8)
c.1519del (p.Glu507ArgfsTer8)
c.1306del (p.Glu436ArgfsTer8)
c.1483del (p.Glu495ArgfsTer8)
c.*822del (n.*822del)
c.1423del (p.Glu475ArgfsTer8)
c.*955del (n.*955del)
c.1238del (n.1238del)
c.*920del (n.*920del)
c.1501del (p.Glu501ArgfsTer8)
c.*781del (n.*781del)
c.1609del (p.Glu537ArgfsTer8)
c.931del (p.Glu311ArgfsTer8)
c.1516del (p.Glu506ArgfsTer8)
c.1385del (n.1385del)
c.193del (p.Glu65ArgfsTer8)
c.766del (p.Glu256ArgfsTer8)
c.1444del (p.Glu482ArgfsTer8)
c.1567del (p.Glu523ArgfsTer8)
c.841del (p.Glu281ArgfsTer8)
c.1447del (p.Glu483ArgfsTer8)
n.2423+2648del
n.1806del
10g.18539422G>ACA5430126CACNB2,NSUN6c.1537G>A (p.Glu513Lys)
c.1402G>A (p.Glu468Lys)
c.1525G>A (p.Glu509Lys)
c.1597G>A (p.Glu533Lys)
c.1681G>A (p.Glu561Lys)
c.1519G>A (p.Glu507Lys)
c.1306G>A (p.Glu436Lys)
c.1483G>A (p.Glu495Lys)
c.*822G>A (n.*822G>A)
c.1423G>A (p.Glu475Lys)
c.*955G>A (n.*955G>A)
c.1238G>A (n.1238G>A)
c.*920G>A (n.*920G>A)
c.1501G>A (p.Glu501Lys)
c.*781G>A (n.*781G>A)
c.1609G>A (p.Glu537Lys)
c.931G>A (p.Glu311Lys)
c.1516G>A (p.Glu506Lys)
c.1385G>A (n.1385G>A)
c.193G>A (p.Glu65Lys)
c.766G>A (p.Glu256Lys)
c.1444G>A (p.Glu482Lys)
c.1567G>A (p.Glu523Lys)
c.841G>A (p.Glu281Lys)
c.1447G>A (p.Glu483Lys)
n.2423+2647C>T
n.1806G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539422G>CCA376071732CACNB2,NSUN6c.1537G>C (p.Glu513Gln)
c.1402G>C (p.Glu468Gln)
c.1525G>C (p.Glu509Gln)
c.1597G>C (p.Glu533Gln)
c.1681G>C (p.Glu561Gln)
c.1519G>C (p.Glu507Gln)
c.1306G>C (p.Glu436Gln)
c.1483G>C (p.Glu495Gln)
c.*822G>C (n.*822G>C)
c.1423G>C (p.Glu475Gln)
c.*955G>C (n.*955G>C)
c.1238G>C (n.1238G>C)
c.*920G>C (n.*920G>C)
c.1501G>C (p.Glu501Gln)
c.*781G>C (n.*781G>C)
c.1609G>C (p.Glu537Gln)
c.931G>C (p.Glu311Gln)
c.1516G>C (p.Glu506Gln)
c.1385G>C (n.1385G>C)
c.193G>C (p.Glu65Gln)
c.766G>C (p.Glu256Gln)
c.1444G>C (p.Glu482Gln)
c.1567G>C (p.Glu523Gln)
c.841G>C (p.Glu281Gln)
c.1447G>C (p.Glu483Gln)
n.2423+2647C>G
n.1806G>C
10g.18539422G=CA1894173323CACNB2,NSUN6c.1537G= (p.Glu513=)
c.1402G= (p.Glu468=)
c.1525G= (p.Glu509=)
c.1597G= (p.Glu533=)
c.1681G= (p.Glu561=)
c.1519G= (p.Glu507=)
c.1306G= (p.Glu436=)
c.1483G= (p.Glu495=)
c.*822G= (n.*822G=)
c.1423G= (p.Glu475=)
c.*955G= (n.*955G=)
c.1238G= (n.1238G=)
c.*920G= (n.*920G=)
c.1501G= (p.Glu501=)
c.*781G= (n.*781G=)
c.1609G= (p.Glu537=)
c.931G= (p.Glu311=)
c.1516G= (p.Glu506=)
c.1385G= (n.1385G=)
c.193G= (p.Glu65=)
c.766G= (p.Glu256=)
c.1444G= (p.Glu482=)
c.1567G= (p.Glu523=)
c.841G= (p.Glu281=)
c.1447G= (p.Glu483=)
n.2423+2647C=
n.1806G=
10g.18539422G>TCA376071730CACNB2,NSUN6c.1537G>T (p.Glu513Ter)
c.1402G>T (p.Glu468Ter)
c.1525G>T (p.Glu509Ter)
c.1597G>T (p.Glu533Ter)
c.1681G>T (p.Glu561Ter)
c.1519G>T (p.Glu507Ter)
c.1306G>T (p.Glu436Ter)
c.1483G>T (p.Glu495Ter)
c.*822G>T (n.*822G>T)
c.1423G>T (p.Glu475Ter)
c.*955G>T (n.*955G>T)
c.1238G>T (n.1238G>T)
c.*920G>T (n.*920G>T)
c.1501G>T (p.Glu501Ter)
c.*781G>T (n.*781G>T)
c.1609G>T (p.Glu537Ter)
c.931G>T (p.Glu311Ter)
c.1516G>T (p.Glu506Ter)
c.1385G>T (n.1385G>T)
c.193G>T (p.Glu65Ter)
c.766G>T (p.Glu256Ter)
c.1444G>T (p.Glu482Ter)
c.1567G>T (p.Glu523Ter)
c.841G>T (p.Glu281Ter)
c.1447G>T (p.Glu483Ter)
n.2423+2647C>A
n.1806G>T
 dbSNP
10g.18539425_18539448dupCA592060481CACNB2,NSUN6c.1540_1563dup (p.Glu521_Pro522insSerArgAspSerAlaTyrValGlu)
c.1405_1428dup (p.Glu476_Pro477insSerArgAspSerAlaTyrValGlu)
c.1528_1551dup (p.Glu517_Pro518insSerArgAspSerAlaTyrValGlu)
c.1600_1623dup (p.Glu541_Pro542insSerArgAspSerAlaTyrValGlu)
c.1684_1707dup (p.Glu569_Pro570insSerArgAspSerAlaTyrValGlu)
c.1522_1545dup (p.Glu515_Pro516insSerArgAspSerAlaTyrValGlu)
c.1309_1332dup (p.Glu444_Pro445insSerArgAspSerAlaTyrValGlu)
c.1486_1509dup (p.Glu503_Pro504insSerArgAspSerAlaTyrValGlu)
c.*825_*848dup (n.*825_*848dup)
c.1426_1449dup (p.Glu483_Pro484insSerArgAspSerAlaTyrValGlu)
c.*958_*981dup (n.*958_*981dup)
c.1241_1264dup (n.1241_1264dup)
c.*923_*946dup (n.*923_*946dup)
c.1504_1527dup (p.Glu509_Pro510insSerArgAspSerAlaTyrValGlu)
c.*784_*807dup (n.*784_*807dup)
c.1612_1635dup (p.Glu545_Pro546insSerArgAspSerAlaTyrValGlu)
c.934_957dup (p.Glu319_Pro320insSerArgAspSerAlaTyrValGlu)
c.1519_1542dup (p.Glu514_Pro515insSerArgAspSerAlaTyrValGlu)
c.1388_1411dup (n.1388_1411dup)
c.196_219dup (p.Glu73_Pro74insSerArgAspSerAlaTyrValGlu)
c.769_792dup (p.Glu264_Pro265insSerArgAspSerAlaTyrValGlu)
c.1447_1470dup (p.Glu490_Pro491insSerArgAspSerAlaTyrValGlu)
c.1570_1593dup (p.Glu531_Pro532insSerArgAspSerAlaTyrValGlu)
c.844_867dup (p.Glu289_Pro290insSerArgAspSerAlaTyrValGlu)
c.1450_1473dup (p.Glu491_Pro492insSerArgAspSerAlaTyrValGlu)
n.2423+2624_2423+2647dup
n.1809_1832dup
 dbSNP gnomAD v2 gnomAD v4
10g.18539423A>CCA376071734CACNB2,NSUN6c.1538A>C (p.Glu513Ala)
c.1403A>C (p.Glu468Ala)
c.1526A>C (p.Glu509Ala)
c.1598A>C (p.Glu533Ala)
c.1682A>C (p.Glu561Ala)
c.1520A>C (p.Glu507Ala)
c.1307A>C (p.Glu436Ala)
c.1484A>C (p.Glu495Ala)
c.*823A>C (n.*823A>C)
c.1424A>C (p.Glu475Ala)
c.*956A>C (n.*956A>C)
c.1239A>C (n.1239A>C)
c.*921A>C (n.*921A>C)
c.1502A>C (p.Glu501Ala)
c.*782A>C (n.*782A>C)
c.1610A>C (p.Glu537Ala)
c.932A>C (p.Glu311Ala)
c.1517A>C (p.Glu506Ala)
c.1386A>C (n.1386A>C)
c.194A>C (p.Glu65Ala)
c.767A>C (p.Glu256Ala)
c.1445A>C (p.Glu482Ala)
c.1568A>C (p.Glu523Ala)
c.842A>C (p.Glu281Ala)
c.1448A>C (p.Glu483Ala)
n.2423+2646T>G
n.1807A>C
10g.18539423A>GCA376071735CACNB2,NSUN6c.1538A>G (p.Glu513Gly)
c.1403A>G (p.Glu468Gly)
c.1526A>G (p.Glu509Gly)
c.1598A>G (p.Glu533Gly)
c.1682A>G (p.Glu561Gly)
c.1520A>G (p.Glu507Gly)
c.1307A>G (p.Glu436Gly)
c.1484A>G (p.Glu495Gly)
c.*823A>G (n.*823A>G)
c.1424A>G (p.Glu475Gly)
c.*956A>G (n.*956A>G)
c.1239A>G (n.1239A>G)
c.*921A>G (n.*921A>G)
c.1502A>G (p.Glu501Gly)
c.*782A>G (n.*782A>G)
c.1610A>G (p.Glu537Gly)
c.932A>G (p.Glu311Gly)
c.1517A>G (p.Glu506Gly)
c.1386A>G (n.1386A>G)
c.194A>G (p.Glu65Gly)
c.767A>G (p.Glu256Gly)
c.1445A>G (p.Glu482Gly)
c.1568A>G (p.Glu523Gly)
c.842A>G (p.Glu281Gly)
c.1448A>G (p.Glu483Gly)
n.2423+2646T>C
n.1807A>G
 ClinVar dbSNP gnomAD v4
10g.18539423A>TCA376071737CACNB2,NSUN6c.1538A>T (p.Glu513Val)
c.1403A>T (p.Glu468Val)
c.1526A>T (p.Glu509Val)
c.1598A>T (p.Glu533Val)
c.1682A>T (p.Glu561Val)
c.1520A>T (p.Glu507Val)
c.1307A>T (p.Glu436Val)
c.1484A>T (p.Glu495Val)
c.*823A>T (n.*823A>T)
c.1424A>T (p.Glu475Val)
c.*956A>T (n.*956A>T)
c.1239A>T (n.1239A>T)
c.*921A>T (n.*921A>T)
c.1502A>T (p.Glu501Val)
c.*782A>T (n.*782A>T)
c.1610A>T (p.Glu537Val)
c.932A>T (p.Glu311Val)
c.1517A>T (p.Glu506Val)
c.1386A>T (n.1386A>T)
c.194A>T (p.Glu65Val)
c.767A>T (p.Glu256Val)
c.1445A>T (p.Glu482Val)
c.1568A>T (p.Glu523Val)
c.842A>T (p.Glu281Val)
c.1448A>T (p.Glu483Val)
n.2423+2646T>A
n.1807A>T
10g.18539424G>ACA5430127CACNB2,NSUN6c.1539G>A (p.Glu513=)
c.1404G>A (p.Glu468=)
c.1527G>A (p.Glu509=)
c.1599G>A (p.Glu533=)
c.1683G>A (p.Glu561=)
c.1521G>A (p.Glu507=)
c.1308G>A (p.Glu436=)
c.1485G>A (p.Glu495=)
c.*824G>A (n.*824G>A)
c.1425G>A (p.Glu475=)
c.*957G>A (n.*957G>A)
c.1240G>A (n.1240G>A)
c.*922G>A (n.*922G>A)
c.1503G>A (p.Glu501=)
c.*783G>A (n.*783G>A)
c.1611G>A (p.Glu537=)
c.933G>A (p.Glu311=)
c.1518G>A (p.Glu506=)
c.1387G>A (n.1387G>A)
c.195G>A (p.Glu65=)
c.768G>A (p.Glu256=)
c.1446G>A (p.Glu482=)
c.1569G>A (p.Glu523=)
c.843G>A (p.Glu281=)
c.1449G>A (p.Glu483=)
n.2423+2645C>T
n.1808G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539424G>CCA376071740CACNB2,NSUN6c.1539G>C (p.Glu513Asp)
c.1404G>C (p.Glu468Asp)
c.1527G>C (p.Glu509Asp)
c.1599G>C (p.Glu533Asp)
c.1683G>C (p.Glu561Asp)
c.1521G>C (p.Glu507Asp)
c.1308G>C (p.Glu436Asp)
c.1485G>C (p.Glu495Asp)
c.*824G>C (n.*824G>C)
c.1425G>C (p.Glu475Asp)
c.*957G>C (n.*957G>C)
c.1240G>C (n.1240G>C)
c.*922G>C (n.*922G>C)
c.1503G>C (p.Glu501Asp)
c.*783G>C (n.*783G>C)
c.1611G>C (p.Glu537Asp)
c.933G>C (p.Glu311Asp)
c.1518G>C (p.Glu506Asp)
c.1387G>C (n.1387G>C)
c.195G>C (p.Glu65Asp)
c.768G>C (p.Glu256Asp)
c.1446G>C (p.Glu482Asp)
c.1569G>C (p.Glu523Asp)
c.843G>C (p.Glu281Asp)
c.1449G>C (p.Glu483Asp)
n.2423+2645C>G
n.1808G>C
 gnomAD v4
10g.18539424G=CA1894173331CACNB2,NSUN6c.1539G= (p.Glu513=)
c.1404G= (p.Glu468=)
c.1527G= (p.Glu509=)
c.1599G= (p.Glu533=)
c.1683G= (p.Glu561=)
c.1521G= (p.Glu507=)
c.1308G= (p.Glu436=)
c.1485G= (p.Glu495=)
c.*824G= (n.*824G=)
c.1425G= (p.Glu475=)
c.*957G= (n.*957G=)
c.1240G= (n.1240G=)
c.*922G= (n.*922G=)
c.1503G= (p.Glu501=)
c.*783G= (n.*783G=)
c.1611G= (p.Glu537=)
c.933G= (p.Glu311=)
c.1518G= (p.Glu506=)
c.1387G= (n.1387G=)
c.195G= (p.Glu65=)
c.768G= (p.Glu256=)
c.1446G= (p.Glu482=)
c.1569G= (p.Glu523=)
c.843G= (p.Glu281=)
c.1449G= (p.Glu483=)
n.2423+2645C=
n.1808G=
10g.18539424G>TCA376071741CACNB2,NSUN6c.1539G>T (p.Glu513Asp)
c.1404G>T (p.Glu468Asp)
c.1527G>T (p.Glu509Asp)
c.1599G>T (p.Glu533Asp)
c.1683G>T (p.Glu561Asp)
c.1521G>T (p.Glu507Asp)
c.1308G>T (p.Glu436Asp)
c.1485G>T (p.Glu495Asp)
c.*824G>T (n.*824G>T)
c.1425G>T (p.Glu475Asp)
c.*957G>T (n.*957G>T)
c.1240G>T (n.1240G>T)
c.*922G>T (n.*922G>T)
c.1503G>T (p.Glu501Asp)
c.*783G>T (n.*783G>T)
c.1611G>T (p.Glu537Asp)
c.933G>T (p.Glu311Asp)
c.1518G>T (p.Glu506Asp)
c.1387G>T (n.1387G>T)
c.195G>T (p.Glu65Asp)
c.768G>T (p.Glu256Asp)
c.1446G>T (p.Glu482Asp)
c.1569G>T (p.Glu523Asp)
c.843G>T (p.Glu281Asp)
c.1449G>T (p.Glu483Asp)
n.2423+2645C>A
n.1808G>T
 ClinVar gnomAD v4
10g.18539424_18539426dupCA2608435624CACNB2,NSUN6c.1539_1541dup (p.Glu513_Ser514insArg)
c.1404_1406dup (p.Glu468_Ser469insArg)
c.1527_1529dup (p.Glu509_Ser510insArg)
c.1599_1601dup (p.Glu533_Ser534insArg)
c.1683_1685dup (p.Glu561_Ser562insArg)
c.1521_1523dup (p.Glu507_Ser508insArg)
c.1308_1310dup (p.Glu436_Ser437insArg)
c.1485_1487dup (p.Glu495_Ser496insArg)
c.*824_*826dup (n.*824_*826dup)
c.1425_1427dup (p.Glu475_Ser476insArg)
c.*957_*959dup (n.*957_*959dup)
c.1240_1242dup (n.1240_1242dup)
c.*922_*924dup (n.*922_*924dup)
c.1503_1505dup (p.Glu501_Ser502insArg)
c.*783_*785dup (n.*783_*785dup)
c.1611_1613dup (p.Glu537_Ser538insArg)
c.933_935dup (p.Glu311_Ser312insArg)
c.1518_1520dup (p.Glu506_Ser507insArg)
c.1387_1389dup (n.1387_1389dup)
c.195_197dup (p.Glu65_Ser66insArg)
c.768_770dup (p.Glu256_Ser257insArg)
c.1446_1448dup (p.Glu482_Ser483insArg)
c.1569_1571dup (p.Glu523_Ser524insArg)
c.843_845dup (p.Glu281_Ser282insArg)
c.1449_1451dup (p.Glu483_Ser484insArg)
n.2423+2643_2423+2645dup
n.1808_1810dup
 gnomAD v4
10g.18539425A>CCA376071742CACNB2,NSUN6c.1540A>C (p.Ser514Arg)
c.1405A>C (p.Ser469Arg)
c.1528A>C (p.Ser510Arg)
c.1600A>C (p.Ser534Arg)
c.1684A>C (p.Ser562Arg)
c.1522A>C (p.Ser508Arg)
c.1309A>C (p.Ser437Arg)
c.1486A>C (p.Ser496Arg)
c.*825A>C (n.*825A>C)
c.1426A>C (p.Ser476Arg)
c.*958A>C (n.*958A>C)
c.1241A>C (n.1241A>C)
c.*923A>C (n.*923A>C)
c.1504A>C (p.Ser502Arg)
c.*784A>C (n.*784A>C)
c.1612A>C (p.Ser538Arg)
c.934A>C (p.Ser312Arg)
c.1519A>C (p.Ser507Arg)
c.1388A>C (n.1388A>C)
c.196A>C (p.Ser66Arg)
c.769A>C (p.Ser257Arg)
c.1447A>C (p.Ser483Arg)
c.1570A>C (p.Ser524Arg)
c.844A>C (p.Ser282Arg)
c.1450A>C (p.Ser484Arg)
n.2423+2644T>G
n.1809A>C
10g.18539425A>GCA376071743CACNB2,NSUN6c.1540A>G (p.Ser514Gly)
c.1405A>G (p.Ser469Gly)
c.1528A>G (p.Ser510Gly)
c.1600A>G (p.Ser534Gly)
c.1684A>G (p.Ser562Gly)
c.1522A>G (p.Ser508Gly)
c.1309A>G (p.Ser437Gly)
c.1486A>G (p.Ser496Gly)
c.*825A>G (n.*825A>G)
c.1426A>G (p.Ser476Gly)
c.*958A>G (n.*958A>G)
c.1241A>G (n.1241A>G)
c.*923A>G (n.*923A>G)
c.1504A>G (p.Ser502Gly)
c.*784A>G (n.*784A>G)
c.1612A>G (p.Ser538Gly)
c.934A>G (p.Ser312Gly)
c.1519A>G (p.Ser507Gly)
c.1388A>G (n.1388A>G)
c.196A>G (p.Ser66Gly)
c.769A>G (p.Ser257Gly)
c.1447A>G (p.Ser483Gly)
c.1570A>G (p.Ser524Gly)
c.844A>G (p.Ser282Gly)
c.1450A>G (p.Ser484Gly)
n.2423+2644T>C
n.1809A>G
10g.18539425A>TCA376071744CACNB2,NSUN6c.1540A>T (p.Ser514Cys)
c.1405A>T (p.Ser469Cys)
c.1528A>T (p.Ser510Cys)
c.1600A>T (p.Ser534Cys)
c.1684A>T (p.Ser562Cys)
c.1522A>T (p.Ser508Cys)
c.1309A>T (p.Ser437Cys)
c.1486A>T (p.Ser496Cys)
c.*825A>T (n.*825A>T)
c.1426A>T (p.Ser476Cys)
c.*958A>T (n.*958A>T)
c.1241A>T (n.1241A>T)
c.*923A>T (n.*923A>T)
c.1504A>T (p.Ser502Cys)
c.*784A>T (n.*784A>T)
c.1612A>T (p.Ser538Cys)
c.934A>T (p.Ser312Cys)
c.1519A>T (p.Ser507Cys)
c.1388A>T (n.1388A>T)
c.196A>T (p.Ser66Cys)
c.769A>T (p.Ser257Cys)
c.1447A>T (p.Ser483Cys)
c.1570A>T (p.Ser524Cys)
c.844A>T (p.Ser282Cys)
c.1450A>T (p.Ser484Cys)
n.2423+2644T>A
n.1809A>T
10g.18539427_18539446dupCA592060482CACNB2,NSUN6c.1542_1561dup (p.Glu521ValfsTer7)
c.1407_1426dup (p.Glu476ValfsTer7)
c.1530_1549dup (p.Glu517ValfsTer7)
c.1602_1621dup (p.Glu541ValfsTer7)
c.1686_1705dup (p.Glu569ValfsTer7)
c.1524_1543dup (p.Glu515ValfsTer7)
c.1311_1330dup (p.Glu444ValfsTer7)
c.1488_1507dup (p.Glu503ValfsTer7)
c.*827_*846dup (n.*827_*846dup)
c.1428_1447dup (p.Glu483ValfsTer7)
c.*960_*979dup (n.*960_*979dup)
c.1243_1262dup (n.1243_1262dup)
c.*925_*944dup (n.*925_*944dup)
c.1506_1525dup (p.Glu509ValfsTer7)
c.*786_*805dup (n.*786_*805dup)
c.1614_1633dup (p.Glu545ValfsTer7)
c.936_955dup (p.Glu319ValfsTer7)
c.1521_1540dup (p.Glu514ValfsTer7)
c.1390_1409dup (n.1390_1409dup)
c.198_217dup (p.Glu73ValfsTer7)
c.771_790dup (p.Glu264ValfsTer7)
c.1449_1468dup (p.Glu490ValfsTer7)
c.1572_1591dup (p.Glu531ValfsTer7)
c.846_865dup (p.Glu289ValfsTer7)
c.1452_1471dup (p.Glu491ValfsTer7)
n.2423+2625_2423+2644dup
n.1811_1830dup
 dbSNP gnomAD v2 gnomAD v4
10g.18539426G>ACA376071746CACNB2,NSUN6c.1541G>A (p.Ser514Asn)
c.1406G>A (p.Ser469Asn)
c.1529G>A (p.Ser510Asn)
c.1601G>A (p.Ser534Asn)
c.1685G>A (p.Ser562Asn)
c.1523G>A (p.Ser508Asn)
c.1310G>A (p.Ser437Asn)
c.1487G>A (p.Ser496Asn)
c.*826G>A (n.*826G>A)
c.1427G>A (p.Ser476Asn)
c.*959G>A (n.*959G>A)
c.1242G>A (n.1242G>A)
c.*924G>A (n.*924G>A)
c.1505G>A (p.Ser502Asn)
c.*785G>A (n.*785G>A)
c.1613G>A (p.Ser538Asn)
c.935G>A (p.Ser312Asn)
c.1520G>A (p.Ser507Asn)
c.1389G>A (n.1389G>A)
c.197G>A (p.Ser66Asn)
c.770G>A (p.Ser257Asn)
c.1448G>A (p.Ser483Asn)
c.1571G>A (p.Ser524Asn)
c.845G>A (p.Ser282Asn)
c.1451G>A (p.Ser484Asn)
n.2423+2643C>T
n.1810G>A
 ClinVar
10g.18539426G>CCA376071747CACNB2,NSUN6c.1541G>C (p.Ser514Thr)
c.1406G>C (p.Ser469Thr)
c.1529G>C (p.Ser510Thr)
c.1601G>C (p.Ser534Thr)
c.1685G>C (p.Ser562Thr)
c.1523G>C (p.Ser508Thr)
c.1310G>C (p.Ser437Thr)
c.1487G>C (p.Ser496Thr)
c.*826G>C (n.*826G>C)
c.1427G>C (p.Ser476Thr)
c.*959G>C (n.*959G>C)
c.1242G>C (n.1242G>C)
c.*924G>C (n.*924G>C)
c.1505G>C (p.Ser502Thr)
c.*785G>C (n.*785G>C)
c.1613G>C (p.Ser538Thr)
c.935G>C (p.Ser312Thr)
c.1520G>C (p.Ser507Thr)
c.1389G>C (n.1389G>C)
c.197G>C (p.Ser66Thr)
c.770G>C (p.Ser257Thr)
c.1448G>C (p.Ser483Thr)
c.1571G>C (p.Ser524Thr)
c.845G>C (p.Ser282Thr)
c.1451G>C (p.Ser484Thr)
n.2423+2643C>G
n.1810G>C
10g.18539426G>TCA376071749CACNB2,NSUN6c.1541G>T (p.Ser514Ile)
c.1406G>T (p.Ser469Ile)
c.1529G>T (p.Ser510Ile)
c.1601G>T (p.Ser534Ile)
c.1685G>T (p.Ser562Ile)
c.1523G>T (p.Ser508Ile)
c.1310G>T (p.Ser437Ile)
c.1487G>T (p.Ser496Ile)
c.*826G>T (n.*826G>T)
c.1427G>T (p.Ser476Ile)
c.*959G>T (n.*959G>T)
c.1242G>T (n.1242G>T)
c.*924G>T (n.*924G>T)
c.1505G>T (p.Ser502Ile)
c.*785G>T (n.*785G>T)
c.1613G>T (p.Ser538Ile)
c.935G>T (p.Ser312Ile)
c.1520G>T (p.Ser507Ile)
c.1389G>T (n.1389G>T)
c.197G>T (p.Ser66Ile)
c.770G>T (p.Ser257Ile)
c.1448G>T (p.Ser483Ile)
c.1571G>T (p.Ser524Ile)
c.845G>T (p.Ser282Ile)
c.1451G>T (p.Ser484Ile)
n.2423+2643C>A
n.1810G>T
 gnomAD v4
10g.18539427T>ACA376071750CACNB2,NSUN6c.1542T>A (p.Ser514Arg)
c.1407T>A (p.Ser469Arg)
c.1530T>A (p.Ser510Arg)
c.1602T>A (p.Ser534Arg)
c.1686T>A (p.Ser562Arg)
c.1524T>A (p.Ser508Arg)
c.1311T>A (p.Ser437Arg)
c.1488T>A (p.Ser496Arg)
c.*827T>A (n.*827T>A)
c.1428T>A (p.Ser476Arg)
c.*960T>A (n.*960T>A)
c.1243T>A (n.1243T>A)
c.*925T>A (n.*925T>A)
c.1506T>A (p.Ser502Arg)
c.*786T>A (n.*786T>A)
c.1614T>A (p.Ser538Arg)
c.936T>A (p.Ser312Arg)
c.1521T>A (p.Ser507Arg)
c.1390T>A (n.1390T>A)
c.198T>A (p.Ser66Arg)
c.771T>A (p.Ser257Arg)
c.1449T>A (p.Ser483Arg)
c.1572T>A (p.Ser524Arg)
c.846T>A (p.Ser282Arg)
c.1452T>A (p.Ser484Arg)
n.2423+2642A>T
n.1811T>A
10g.18539427T>CCA468629056CACNB2,NSUN6c.1542T>C (p.Ser514=)
c.1407T>C (p.Ser469=)
c.1530T>C (p.Ser510=)
c.1602T>C (p.Ser534=)
c.1686T>C (p.Ser562=)
c.1524T>C (p.Ser508=)
c.1311T>C (p.Ser437=)
c.1488T>C (p.Ser496=)
c.*827T>C (n.*827T>C)
c.1428T>C (p.Ser476=)
c.*960T>C (n.*960T>C)
c.1243T>C (n.1243T>C)
c.*925T>C (n.*925T>C)
c.1506T>C (p.Ser502=)
c.*786T>C (n.*786T>C)
c.1614T>C (p.Ser538=)
c.936T>C (p.Ser312=)
c.1521T>C (p.Ser507=)
c.1390T>C (n.1390T>C)
c.198T>C (p.Ser66=)
c.771T>C (p.Ser257=)
c.1449T>C (p.Ser483=)
c.1572T>C (p.Ser524=)
c.846T>C (p.Ser282=)
c.1452T>C (p.Ser484=)
n.2423+2642A>G
n.1811T>C
10g.18539427T>GCA376071752CACNB2,NSUN6c.1542T>G (p.Ser514Arg)
c.1407T>G (p.Ser469Arg)
c.1530T>G (p.Ser510Arg)
c.1602T>G (p.Ser534Arg)
c.1686T>G (p.Ser562Arg)
c.1524T>G (p.Ser508Arg)
c.1311T>G (p.Ser437Arg)
c.1488T>G (p.Ser496Arg)
c.*827T>G (n.*827T>G)
c.1428T>G (p.Ser476Arg)
c.*960T>G (n.*960T>G)
c.1243T>G (n.1243T>G)
c.*925T>G (n.*925T>G)
c.1506T>G (p.Ser502Arg)
c.*786T>G (n.*786T>G)
c.1614T>G (p.Ser538Arg)
c.936T>G (p.Ser312Arg)
c.1521T>G (p.Ser507Arg)
c.1390T>G (n.1390T>G)
c.198T>G (p.Ser66Arg)
c.771T>G (p.Ser257Arg)
c.1449T>G (p.Ser483Arg)
c.1572T>G (p.Ser524Arg)
c.846T>G (p.Ser282Arg)
c.1452T>G (p.Ser484Arg)
n.2423+2642A>C
n.1811T>G
10g.18539428C>ACA468629066CACNB2,NSUN6c.1543C>A (p.Arg515=)
c.1408C>A (p.Arg470=)
c.1531C>A (p.Arg511=)
c.1603C>A (p.Arg535=)
c.1687C>A (p.Arg563=)
c.1525C>A (p.Arg509=)
c.1312C>A (p.Arg438=)
c.1489C>A (p.Arg497=)
c.*828C>A (n.*828C>A)
c.1429C>A (p.Arg477=)
c.*961C>A (n.*961C>A)
c.1244C>A (n.1244C>A)
c.*926C>A (n.*926C>A)
c.1507C>A (p.Arg503=)
c.*787C>A (n.*787C>A)
c.1615C>A (p.Arg539=)
c.937C>A (p.Arg313=)
c.1522C>A (p.Arg508=)
c.1391C>A (n.1391C>A)
c.199C>A (p.Arg67=)
c.772C>A (p.Arg258=)
c.1450C>A (p.Arg484=)
c.1573C>A (p.Arg525=)
c.847C>A (p.Arg283=)
c.1453C>A (p.Arg485=)
n.2423+2641G>T
n.1812C>A
 ClinVar dbSNP
10g.18539428C=CA1894173334CACNB2,NSUN6c.1543C= (p.Arg515=)
c.1408C= (p.Arg470=)
c.1531C= (p.Arg511=)
c.1603C= (p.Arg535=)
c.1687C= (p.Arg563=)
c.1525C= (p.Arg509=)
c.1312C= (p.Arg438=)
c.1489C= (p.Arg497=)
c.*828C= (n.*828C=)
c.1429C= (p.Arg477=)
c.*961C= (n.*961C=)
c.1244C= (n.1244C=)
c.*926C= (n.*926C=)
c.1507C= (p.Arg503=)
c.*787C= (n.*787C=)
c.1615C= (p.Arg539=)
c.937C= (p.Arg313=)
c.1522C= (p.Arg508=)
c.1391C= (n.1391C=)
c.199C= (p.Arg67=)
c.772C= (p.Arg258=)
c.1450C= (p.Arg484=)
c.1573C= (p.Arg525=)
c.847C= (p.Arg283=)
c.1453C= (p.Arg485=)
n.2423+2641G=
n.1812C=
10g.18539428C>GCA5430128CACNB2,NSUN6c.1543C>G (p.Arg515Gly)
c.1408C>G (p.Arg470Gly)
c.1531C>G (p.Arg511Gly)
c.1603C>G (p.Arg535Gly)
c.1687C>G (p.Arg563Gly)
c.1525C>G (p.Arg509Gly)
c.1312C>G (p.Arg438Gly)
c.1489C>G (p.Arg497Gly)
c.*828C>G (n.*828C>G)
c.1429C>G (p.Arg477Gly)
c.*961C>G (n.*961C>G)
c.1244C>G (n.1244C>G)
c.*926C>G (n.*926C>G)
c.1507C>G (p.Arg503Gly)
c.*787C>G (n.*787C>G)
c.1615C>G (p.Arg539Gly)
c.937C>G (p.Arg313Gly)
c.1522C>G (p.Arg508Gly)
c.1391C>G (n.1391C>G)
c.199C>G (p.Arg67Gly)
c.772C>G (p.Arg258Gly)
c.1450C>G (p.Arg484Gly)
c.1573C>G (p.Arg525Gly)
c.847C>G (p.Arg283Gly)
c.1453C>G (p.Arg485Gly)
n.2423+2641G>C
n.1812C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539428C>TCA376071754CACNB2,NSUN6c.1543C>T (p.Arg515Ter)
c.1408C>T (p.Arg470Ter)
c.1531C>T (p.Arg511Ter)
c.1603C>T (p.Arg535Ter)
c.1687C>T (p.Arg563Ter)
c.1525C>T (p.Arg509Ter)
c.1312C>T (p.Arg438Ter)
c.1489C>T (p.Arg497Ter)
c.*828C>T (n.*828C>T)
c.1429C>T (p.Arg477Ter)
c.*961C>T (n.*961C>T)
c.1244C>T (n.1244C>T)
c.*926C>T (n.*926C>T)
c.1507C>T (p.Arg503Ter)
c.*787C>T (n.*787C>T)
c.1615C>T (p.Arg539Ter)
c.937C>T (p.Arg313Ter)
c.1522C>T (p.Arg508Ter)
c.1391C>T (n.1391C>T)
c.199C>T (p.Arg67Ter)
c.772C>T (p.Arg258Ter)
c.1450C>T (p.Arg484Ter)
c.1573C>T (p.Arg525Ter)
c.847C>T (p.Arg283Ter)
c.1453C>T (p.Arg485Ter)
n.2423+2641G>A
n.1812C>T
 dbSNP gnomAD v2 gnomAD v4
10g.18539428_18539445delinsCGAGACTCTGCCTACGTACA1894173336CACNB2,NSUN6c.1543_1560delinsCGAGACTCTGCCTACGTA (p.Arg515=)
c.1408_1425delinsCGAGACTCTGCCTACGTA (p.Arg470=)
c.1531_1548delinsCGAGACTCTGCCTACGTA (p.Arg511=)
c.1603_1620delinsCGAGACTCTGCCTACGTA (p.Arg535=)
c.1687_1704delinsCGAGACTCTGCCTACGTA (p.Arg563=)
c.1525_1542delinsCGAGACTCTGCCTACGTA (p.Arg509=)
c.1312_1329delinsCGAGACTCTGCCTACGTA (p.Arg438=)
c.1489_1506delinsCGAGACTCTGCCTACGTA (p.Arg497=)
c.*828_*845delinsCGAGACTCTGCCTACGTA (n.*828_*845delinsCGAGACTCTGCCTACGTA)
c.1429_1446delinsCGAGACTCTGCCTACGTA (p.Arg477=)
c.*961_*978delinsCGAGACTCTGCCTACGTA (n.*961_*978delinsCGAGACTCTGCCTACGTA)
c.1244_1261delinsCGAGACTCTGCCTACGTA (n.1244_1261delinsCGAGACTCTGCCTACGTA)
c.*926_*943delinsCGAGACTCTGCCTACGTA (n.*926_*943delinsCGAGACTCTGCCTACGTA)
c.1507_1524delinsCGAGACTCTGCCTACGTA (p.Arg503=)
c.*787_*804delinsCGAGACTCTGCCTACGTA (n.*787_*804delinsCGAGACTCTGCCTACGTA)
c.1615_1632delinsCGAGACTCTGCCTACGTA (p.Arg539=)
c.937_954delinsCGAGACTCTGCCTACGTA (p.Arg313=)
c.1522_1539delinsCGAGACTCTGCCTACGTA (p.Arg508=)
c.1391_1408delinsCGAGACTCTGCCTACGTA (n.1391_1408delinsCGAGACTCTGCCTACGTA)
c.199_216delinsCGAGACTCTGCCTACGTA (p.Arg67=)
c.772_789delinsCGAGACTCTGCCTACGTA (p.Arg258=)
c.1450_1467delinsCGAGACTCTGCCTACGTA (p.Arg484=)
c.1573_1590delinsCGAGACTCTGCCTACGTA (p.Arg525=)
c.847_864delinsCGAGACTCTGCCTACGTA (p.Arg283=)
c.1453_1470delinsCGAGACTCTGCCTACGTA (p.Arg485=)
n.2423+2624_2423+2641delinsTACGTAGGCAGAGTCTCG
n.1812_1829delinsCGAGACTCTGCCTACGTA
10g.18539429G>ACA5430129CACNB2,NSUN6c.1544G>A (p.Arg515Gln)
c.1409G>A (p.Arg470Gln)
c.1532G>A (p.Arg511Gln)
c.1604G>A (p.Arg535Gln)
c.1688G>A (p.Arg563Gln)
c.1526G>A (p.Arg509Gln)
c.1313G>A (p.Arg438Gln)
c.1490G>A (p.Arg497Gln)
c.*829G>A (n.*829G>A)
c.1430G>A (p.Arg477Gln)
c.*962G>A (n.*962G>A)
c.1245G>A (n.1245G>A)
c.*927G>A (n.*927G>A)
c.1508G>A (p.Arg503Gln)
c.*788G>A (n.*788G>A)
c.1616G>A (p.Arg539Gln)
c.938G>A (p.Arg313Gln)
c.1523G>A (p.Arg508Gln)
c.1392G>A (n.1392G>A)
c.200G>A (p.Arg67Gln)
c.773G>A (p.Arg258Gln)
c.1451G>A (p.Arg484Gln)
c.1574G>A (p.Arg525Gln)
c.848G>A (p.Arg283Gln)
c.1454G>A (p.Arg485Gln)
n.2423+2640C>T
n.1813G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539429G>CCA5430130CACNB2,NSUN6c.1544G>C (p.Arg515Pro)
c.1409G>C (p.Arg470Pro)
c.1532G>C (p.Arg511Pro)
c.1604G>C (p.Arg535Pro)
c.1688G>C (p.Arg563Pro)
c.1526G>C (p.Arg509Pro)
c.1313G>C (p.Arg438Pro)
c.1490G>C (p.Arg497Pro)
c.*829G>C (n.*829G>C)
c.1430G>C (p.Arg477Pro)
c.*962G>C (n.*962G>C)
c.1245G>C (n.1245G>C)
c.*927G>C (n.*927G>C)
c.1508G>C (p.Arg503Pro)
c.*788G>C (n.*788G>C)
c.1616G>C (p.Arg539Pro)
c.938G>C (p.Arg313Pro)
c.1523G>C (p.Arg508Pro)
c.1392G>C (n.1392G>C)
c.200G>C (p.Arg67Pro)
c.773G>C (p.Arg258Pro)
c.1451G>C (p.Arg484Pro)
c.1574G>C (p.Arg525Pro)
c.848G>C (p.Arg283Pro)
c.1454G>C (p.Arg485Pro)
n.2423+2640C>G
n.1813G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539429G=CA1894173342CACNB2,NSUN6c.1544G= (p.Arg515=)
c.1409G= (p.Arg470=)
c.1532G= (p.Arg511=)
c.1604G= (p.Arg535=)
c.1688G= (p.Arg563=)
c.1526G= (p.Arg509=)
c.1313G= (p.Arg438=)
c.1490G= (p.Arg497=)
c.*829G= (n.*829G=)
c.1430G= (p.Arg477=)
c.*962G= (n.*962G=)
c.1245G= (n.1245G=)
c.*927G= (n.*927G=)
c.1508G= (p.Arg503=)
c.*788G= (n.*788G=)
c.1616G= (p.Arg539=)
c.938G= (p.Arg313=)
c.1523G= (p.Arg508=)
c.1392G= (n.1392G=)
c.200G= (p.Arg67=)
c.773G= (p.Arg258=)
c.1451G= (p.Arg484=)
c.1574G= (p.Arg525=)
c.848G= (p.Arg283=)
c.1454G= (p.Arg485=)
n.2423+2640C=
n.1813G=
10g.18539429G>TCA376071755CACNB2,NSUN6c.1544G>T (p.Arg515Leu)
c.1409G>T (p.Arg470Leu)
c.1532G>T (p.Arg511Leu)
c.1604G>T (p.Arg535Leu)
c.1688G>T (p.Arg563Leu)
c.1526G>T (p.Arg509Leu)
c.1313G>T (p.Arg438Leu)
c.1490G>T (p.Arg497Leu)
c.*829G>T (n.*829G>T)
c.1430G>T (p.Arg477Leu)
c.*962G>T (n.*962G>T)
c.1245G>T (n.1245G>T)
c.*927G>T (n.*927G>T)
c.1508G>T (p.Arg503Leu)
c.*788G>T (n.*788G>T)
c.1616G>T (p.Arg539Leu)
c.938G>T (p.Arg313Leu)
c.1523G>T (p.Arg508Leu)
c.1392G>T (n.1392G>T)
c.200G>T (p.Arg67Leu)
c.773G>T (p.Arg258Leu)
c.1451G>T (p.Arg484Leu)
c.1574G>T (p.Arg525Leu)
c.848G>T (p.Arg283Leu)
c.1454G>T (p.Arg485Leu)
n.2423+2640C>A
n.1813G>T
10g.18539432_18539448delCA592060483CACNB2,NSUN6c.1547_1563del (p.Asp516AlafsTer8)
c.1412_1428del (p.Asp471AlafsTer8)
c.1535_1551del (p.Asp512AlafsTer8)
c.1607_1623del (p.Asp536AlafsTer8)
c.1691_1707del (p.Asp564AlafsTer8)
c.1529_1545del (p.Asp510AlafsTer8)
c.1316_1332del (p.Asp439AlafsTer8)
c.1493_1509del (p.Asp498AlafsTer8)
c.*832_*848del (n.*832_*848del)
c.1433_1449del (p.Asp478AlafsTer8)
c.*965_*981del (n.*965_*981del)
c.1248_1264del (n.1248_1264del)
c.*930_*946del (n.*930_*946del)
c.1511_1527del (p.Asp504AlafsTer8)
c.*791_*807del (n.*791_*807del)
c.1619_1635del (p.Asp540AlafsTer8)
c.941_957del (p.Asp314AlafsTer8)
c.1526_1542del (p.Asp509AlafsTer8)
c.1395_1411del (n.1395_1411del)
c.203_219del (p.Asp68AlafsTer8)
c.776_792del (p.Asp259AlafsTer8)
c.1454_1470del (p.Asp485AlafsTer8)
c.1577_1593del (p.Asp526AlafsTer8)
c.851_867del (p.Asp284AlafsTer8)
c.1457_1473del (p.Asp486AlafsTer8)
n.2423+2624_2423+2640del
n.1816_1832del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539430A=CA1894173348CACNB2,NSUN6c.1545A= (p.Arg515=)
c.1410A= (p.Arg470=)
c.1533A= (p.Arg511=)
c.1605A= (p.Arg535=)
c.1689A= (p.Arg563=)
c.1527A= (p.Arg509=)
c.1314A= (p.Arg438=)
c.1491A= (p.Arg497=)
c.*830A= (n.*830A=)
c.1431A= (p.Arg477=)
c.*963A= (n.*963A=)
c.1246A= (n.1246A=)
c.*928A= (n.*928A=)
c.1509A= (p.Arg503=)
c.*789A= (n.*789A=)
c.1617A= (p.Arg539=)
c.939A= (p.Arg313=)
c.1524A= (p.Arg508=)
c.1393A= (n.1393A=)
c.201A= (p.Arg67=)
c.774A= (p.Arg258=)
c.1452A= (p.Arg484=)
c.1575A= (p.Arg525=)
c.849A= (p.Arg283=)
c.1455A= (p.Arg485=)
n.2423+2639T=
n.1814A=
10g.18539430A>CCA468629079CACNB2,NSUN6c.1545A>C (p.Arg515=)
c.1410A>C (p.Arg470=)
c.1533A>C (p.Arg511=)
c.1605A>C (p.Arg535=)
c.1689A>C (p.Arg563=)
c.1527A>C (p.Arg509=)
c.1314A>C (p.Arg438=)
c.1491A>C (p.Arg497=)
c.*830A>C (n.*830A>C)
c.1431A>C (p.Arg477=)
c.*963A>C (n.*963A>C)
c.1246A>C (n.1246A>C)
c.*928A>C (n.*928A>C)
c.1509A>C (p.Arg503=)
c.*789A>C (n.*789A>C)
c.1617A>C (p.Arg539=)
c.939A>C (p.Arg313=)
c.1524A>C (p.Arg508=)
c.1393A>C (n.1393A>C)
c.201A>C (p.Arg67=)
c.774A>C (p.Arg258=)
c.1452A>C (p.Arg484=)
c.1575A>C (p.Arg525=)
c.849A>C (p.Arg283=)
c.1455A>C (p.Arg485=)
n.2423+2639T>G
n.1814A>C
 gnomAD v4
10g.18539430A>GCA468629082CACNB2,NSUN6c.1545A>G (p.Arg515=)
c.1410A>G (p.Arg470=)
c.1533A>G (p.Arg511=)
c.1605A>G (p.Arg535=)
c.1689A>G (p.Arg563=)
c.1527A>G (p.Arg509=)
c.1314A>G (p.Arg438=)
c.1491A>G (p.Arg497=)
c.*830A>G (n.*830A>G)
c.1431A>G (p.Arg477=)
c.*963A>G (n.*963A>G)
c.1246A>G (n.1246A>G)
c.*928A>G (n.*928A>G)
c.1509A>G (p.Arg503=)
c.*789A>G (n.*789A>G)
c.1617A>G (p.Arg539=)
c.939A>G (p.Arg313=)
c.1524A>G (p.Arg508=)
c.1393A>G (n.1393A>G)
c.201A>G (p.Arg67=)
c.774A>G (p.Arg258=)
c.1452A>G (p.Arg484=)
c.1575A>G (p.Arg525=)
c.849A>G (p.Arg283=)
c.1455A>G (p.Arg485=)
n.2423+2639T>C
n.1814A>G
 dbSNP
10g.18539430A>TCA468629085CACNB2,NSUN6c.1545A>T (p.Arg515=)
c.1410A>T (p.Arg470=)
c.1533A>T (p.Arg511=)
c.1605A>T (p.Arg535=)
c.1689A>T (p.Arg563=)
c.1527A>T (p.Arg509=)
c.1314A>T (p.Arg438=)
c.1491A>T (p.Arg497=)
c.*830A>T (n.*830A>T)
c.1431A>T (p.Arg477=)
c.*963A>T (n.*963A>T)
c.1246A>T (n.1246A>T)
c.*928A>T (n.*928A>T)
c.1509A>T (p.Arg503=)
c.*789A>T (n.*789A>T)
c.1617A>T (p.Arg539=)
c.939A>T (p.Arg313=)
c.1524A>T (p.Arg508=)
c.1393A>T (n.1393A>T)
c.201A>T (p.Arg67=)
c.774A>T (p.Arg258=)
c.1452A>T (p.Arg484=)
c.1575A>T (p.Arg525=)
c.849A>T (p.Arg283=)
c.1455A>T (p.Arg485=)
n.2423+2639T>A
n.1814A>T
10g.18539431G>ACA376071756CACNB2,NSUN6c.1546G>A (p.Asp516Asn)
c.1411G>A (p.Asp471Asn)
c.1534G>A (p.Asp512Asn)
c.1606G>A (p.Asp536Asn)
c.1690G>A (p.Asp564Asn)
c.1528G>A (p.Asp510Asn)
c.1315G>A (p.Asp439Asn)
c.1492G>A (p.Asp498Asn)
c.*831G>A (n.*831G>A)
c.1432G>A (p.Asp478Asn)
c.*964G>A (n.*964G>A)
c.1247G>A (n.1247G>A)
c.*929G>A (n.*929G>A)
c.1510G>A (p.Asp504Asn)
c.*790G>A (n.*790G>A)
c.1618G>A (p.Asp540Asn)
c.940G>A (p.Asp314Asn)
c.1525G>A (p.Asp509Asn)
c.1394G>A (n.1394G>A)
c.202G>A (p.Asp68Asn)
c.775G>A (p.Asp259Asn)
c.1453G>A (p.Asp485Asn)
c.1576G>A (p.Asp526Asn)
c.850G>A (p.Asp284Asn)
c.1456G>A (p.Asp486Asn)
n.2423+2638C>T
n.1815G>A
10g.18539431G>CCA376071757CACNB2,NSUN6c.1546G>C (p.Asp516His)
c.1411G>C (p.Asp471His)
c.1534G>C (p.Asp512His)
c.1606G>C (p.Asp536His)
c.1690G>C (p.Asp564His)
c.1528G>C (p.Asp510His)
c.1315G>C (p.Asp439His)
c.1492G>C (p.Asp498His)
c.*831G>C (n.*831G>C)
c.1432G>C (p.Asp478His)
c.*964G>C (n.*964G>C)
c.1247G>C (n.1247G>C)
c.*929G>C (n.*929G>C)
c.1510G>C (p.Asp504His)
c.*790G>C (n.*790G>C)
c.1618G>C (p.Asp540His)
c.940G>C (p.Asp314His)
c.1525G>C (p.Asp509His)
c.1394G>C (n.1394G>C)
c.202G>C (p.Asp68His)
c.775G>C (p.Asp259His)
c.1453G>C (p.Asp485His)
c.1576G>C (p.Asp526His)
c.850G>C (p.Asp284His)
c.1456G>C (p.Asp486His)
n.2423+2638C>G
n.1815G>C
 ClinVar
10g.18539431G>TCA376071758CACNB2,NSUN6c.1546G>T (p.Asp516Tyr)
c.1411G>T (p.Asp471Tyr)
c.1534G>T (p.Asp512Tyr)
c.1606G>T (p.Asp536Tyr)
c.1690G>T (p.Asp564Tyr)
c.1528G>T (p.Asp510Tyr)
c.1315G>T (p.Asp439Tyr)
c.1492G>T (p.Asp498Tyr)
c.*831G>T (n.*831G>T)
c.1432G>T (p.Asp478Tyr)
c.*964G>T (n.*964G>T)
c.1247G>T (n.1247G>T)
c.*929G>T (n.*929G>T)
c.1510G>T (p.Asp504Tyr)
c.*790G>T (n.*790G>T)
c.1618G>T (p.Asp540Tyr)
c.940G>T (p.Asp314Tyr)
c.1525G>T (p.Asp509Tyr)
c.1394G>T (n.1394G>T)
c.202G>T (p.Asp68Tyr)
c.775G>T (p.Asp259Tyr)
c.1453G>T (p.Asp485Tyr)
c.1576G>T (p.Asp526Tyr)
c.850G>T (p.Asp284Tyr)
c.1456G>T (p.Asp486Tyr)
n.2423+2638C>A
n.1815G>T
10g.18539432A>CCA376071759CACNB2,NSUN6c.1547A>C (p.Asp516Ala)
c.1412A>C (p.Asp471Ala)
c.1535A>C (p.Asp512Ala)
c.1607A>C (p.Asp536Ala)
c.1691A>C (p.Asp564Ala)
c.1529A>C (p.Asp510Ala)
c.1316A>C (p.Asp439Ala)
c.1493A>C (p.Asp498Ala)
c.*832A>C (n.*832A>C)
c.1433A>C (p.Asp478Ala)
c.*965A>C (n.*965A>C)
c.1248A>C (n.1248A>C)
c.*930A>C (n.*930A>C)
c.1511A>C (p.Asp504Ala)
c.*791A>C (n.*791A>C)
c.1619A>C (p.Asp540Ala)
c.941A>C (p.Asp314Ala)
c.1526A>C (p.Asp509Ala)
c.1395A>C (n.1395A>C)
c.203A>C (p.Asp68Ala)
c.776A>C (p.Asp259Ala)
c.1454A>C (p.Asp485Ala)
c.1577A>C (p.Asp526Ala)
c.851A>C (p.Asp284Ala)
c.1457A>C (p.Asp486Ala)
n.2423+2637T>G
n.1816A>C
 gnomAD v3 gnomAD v4
10g.18539432A>GCA376071761CACNB2,NSUN6c.1547A>G (p.Asp516Gly)
c.1412A>G (p.Asp471Gly)
c.1535A>G (p.Asp512Gly)
c.1607A>G (p.Asp536Gly)
c.1691A>G (p.Asp564Gly)
c.1529A>G (p.Asp510Gly)
c.1316A>G (p.Asp439Gly)
c.1493A>G (p.Asp498Gly)
c.*832A>G (n.*832A>G)
c.1433A>G (p.Asp478Gly)
c.*965A>G (n.*965A>G)
c.1248A>G (n.1248A>G)
c.*930A>G (n.*930A>G)
c.1511A>G (p.Asp504Gly)
c.*791A>G (n.*791A>G)
c.1619A>G (p.Asp540Gly)
c.941A>G (p.Asp314Gly)
c.1526A>G (p.Asp509Gly)
c.1395A>G (n.1395A>G)
c.203A>G (p.Asp68Gly)
c.776A>G (p.Asp259Gly)
c.1454A>G (p.Asp485Gly)
c.1577A>G (p.Asp526Gly)
c.851A>G (p.Asp284Gly)
c.1457A>G (p.Asp486Gly)
n.2423+2637T>C
n.1816A>G
10g.18539432A>TCA376071762CACNB2,NSUN6c.1547A>T (p.Asp516Val)
c.1412A>T (p.Asp471Val)
c.1535A>T (p.Asp512Val)
c.1607A>T (p.Asp536Val)
c.1691A>T (p.Asp564Val)
c.1529A>T (p.Asp510Val)
c.1316A>T (p.Asp439Val)
c.1493A>T (p.Asp498Val)
c.*832A>T (n.*832A>T)
c.1433A>T (p.Asp478Val)
c.*965A>T (n.*965A>T)
c.1248A>T (n.1248A>T)
c.*930A>T (n.*930A>T)
c.1511A>T (p.Asp504Val)
c.*791A>T (n.*791A>T)
c.1619A>T (p.Asp540Val)
c.941A>T (p.Asp314Val)
c.1526A>T (p.Asp509Val)
c.1395A>T (n.1395A>T)
c.203A>T (p.Asp68Val)
c.776A>T (p.Asp259Val)
c.1454A>T (p.Asp485Val)
c.1577A>T (p.Asp526Val)
c.851A>T (p.Asp284Val)
c.1457A>T (p.Asp486Val)
n.2423+2637T>A
n.1816A>T
10g.18539433C>ACA376071764CACNB2,NSUN6c.1548C>A (p.Asp516Glu)
c.1413C>A (p.Asp471Glu)
c.1536C>A (p.Asp512Glu)
c.1608C>A (p.Asp536Glu)
c.1692C>A (p.Asp564Glu)
c.1530C>A (p.Asp510Glu)
c.1317C>A (p.Asp439Glu)
c.1494C>A (p.Asp498Glu)
c.*833C>A (n.*833C>A)
c.1434C>A (p.Asp478Glu)
c.*966C>A (n.*966C>A)
c.1249C>A (n.1249C>A)
c.*931C>A (n.*931C>A)
c.1512C>A (p.Asp504Glu)
c.*792C>A (n.*792C>A)
c.1620C>A (p.Asp540Glu)
c.942C>A (p.Asp314Glu)
c.1527C>A (p.Asp509Glu)
c.1396C>A (n.1396C>A)
c.204C>A (p.Asp68Glu)
c.777C>A (p.Asp259Glu)
c.1455C>A (p.Asp485Glu)
c.1578C>A (p.Asp526Glu)
c.852C>A (p.Asp284Glu)
c.1458C>A (p.Asp486Glu)
n.2423+2636G>T
n.1817C>A
10g.18539433C=CA1894173352CACNB2,NSUN6c.1548C= (p.Asp516=)
c.1413C= (p.Asp471=)
c.1536C= (p.Asp512=)
c.1608C= (p.Asp536=)
c.1692C= (p.Asp564=)
c.1530C= (p.Asp510=)
c.1317C= (p.Asp439=)
c.1494C= (p.Asp498=)
c.*833C= (n.*833C=)
c.1434C= (p.Asp478=)
c.*966C= (n.*966C=)
c.1249C= (n.1249C=)
c.*931C= (n.*931C=)
c.1512C= (p.Asp504=)
c.*792C= (n.*792C=)
c.1620C= (p.Asp540=)
c.942C= (p.Asp314=)
c.1527C= (p.Asp509=)
c.1396C= (n.1396C=)
c.204C= (p.Asp68=)
c.777C= (p.Asp259=)
c.1455C= (p.Asp485=)
c.1578C= (p.Asp526=)
c.852C= (p.Asp284=)
c.1458C= (p.Asp486=)
n.2423+2636G=
n.1817C=
10g.18539433C>GCA376071765CACNB2,NSUN6c.1548C>G (p.Asp516Glu)
c.1413C>G (p.Asp471Glu)
c.1536C>G (p.Asp512Glu)
c.1608C>G (p.Asp536Glu)
c.1692C>G (p.Asp564Glu)
c.1530C>G (p.Asp510Glu)
c.1317C>G (p.Asp439Glu)
c.1494C>G (p.Asp498Glu)
c.*833C>G (n.*833C>G)
c.1434C>G (p.Asp478Glu)
c.*966C>G (n.*966C>G)
c.1249C>G (n.1249C>G)
c.*931C>G (n.*931C>G)
c.1512C>G (p.Asp504Glu)
c.*792C>G (n.*792C>G)
c.1620C>G (p.Asp540Glu)
c.942C>G (p.Asp314Glu)
c.1527C>G (p.Asp509Glu)
c.1396C>G (n.1396C>G)
c.204C>G (p.Asp68Glu)
c.777C>G (p.Asp259Glu)
c.1455C>G (p.Asp485Glu)
c.1578C>G (p.Asp526Glu)
c.852C>G (p.Asp284Glu)
c.1458C>G (p.Asp486Glu)
n.2423+2636G>C
n.1817C>G
 dbSNP gnomAD v3 gnomAD v4
10g.18539433C>TCA203167215CACNB2,NSUN6c.1548C>T (p.Asp516=)
c.1413C>T (p.Asp471=)
c.1536C>T (p.Asp512=)
c.1608C>T (p.Asp536=)
c.1692C>T (p.Asp564=)
c.1530C>T (p.Asp510=)
c.1317C>T (p.Asp439=)
c.1494C>T (p.Asp498=)
c.*833C>T (n.*833C>T)
c.1434C>T (p.Asp478=)
c.*966C>T (n.*966C>T)
c.1249C>T (n.1249C>T)
c.*931C>T (n.*931C>T)
c.1512C>T (p.Asp504=)
c.*792C>T (n.*792C>T)
c.1620C>T (p.Asp540=)
c.942C>T (p.Asp314=)
c.1527C>T (p.Asp509=)
c.1396C>T (n.1396C>T)
c.204C>T (p.Asp68=)
c.777C>T (p.Asp259=)
c.1455C>T (p.Asp485=)
c.1578C>T (p.Asp526=)
c.852C>T (p.Asp284=)
c.1458C>T (p.Asp486=)
n.2423+2636G>A
n.1817C>T
 ClinVar dbSNP gnomAD v4
10g.18539435_18539436delCA2608435625CACNB2,NSUN6c.1550_1551del (p.Ser517CysfsTer12)
c.1415_1416del (p.Ser472CysfsTer12)
c.1538_1539del (p.Ser513CysfsTer12)
c.1610_1611del (p.Ser537CysfsTer12)
c.1694_1695del (p.Ser565CysfsTer12)
c.1532_1533del (p.Ser511CysfsTer12)
c.1319_1320del (p.Ser440CysfsTer12)
c.1496_1497del (p.Ser499CysfsTer12)
c.*835_*836del (n.*835_*836del)
c.1436_1437del (p.Ser479CysfsTer12)
c.*968_*969del (n.*968_*969del)
c.1251_1252del (n.1251_1252del)
c.*933_*934del (n.*933_*934del)
c.1514_1515del (p.Ser505CysfsTer12)
c.*794_*795del (n.*794_*795del)
c.1622_1623del (p.Ser541CysfsTer12)
c.944_945del (p.Ser315CysfsTer12)
c.1529_1530del (p.Ser510CysfsTer12)
c.1398_1399del (n.1398_1399del)
c.206_207del (p.Ser69CysfsTer12)
c.779_780del (p.Ser260CysfsTer12)
c.1457_1458del (p.Ser486CysfsTer12)
c.1580_1581del (p.Ser527CysfsTer12)
c.854_855del (p.Ser285CysfsTer12)
c.1460_1461del (p.Ser487CysfsTer12)
n.2423+2635_2423+2636del
n.1819_1820del
 gnomAD v4
10g.18539434T>ACA376071770CACNB2,NSUN6c.1549T>A (p.Ser517Thr)
c.1414T>A (p.Ser472Thr)
c.1537T>A (p.Ser513Thr)
c.1609T>A (p.Ser537Thr)
c.1693T>A (p.Ser565Thr)
c.1531T>A (p.Ser511Thr)
c.1318T>A (p.Ser440Thr)
c.1495T>A (p.Ser499Thr)
c.*834T>A (n.*834T>A)
c.1435T>A (p.Ser479Thr)
c.*967T>A (n.*967T>A)
c.1250T>A (n.1250T>A)
c.*932T>A (n.*932T>A)
c.1513T>A (p.Ser505Thr)
c.*793T>A (n.*793T>A)
c.1621T>A (p.Ser541Thr)
c.943T>A (p.Ser315Thr)
c.1528T>A (p.Ser510Thr)
c.1397T>A (n.1397T>A)
c.205T>A (p.Ser69Thr)
c.778T>A (p.Ser260Thr)
c.1456T>A (p.Ser486Thr)
c.1579T>A (p.Ser527Thr)
c.853T>A (p.Ser285Thr)
c.1459T>A (p.Ser487Thr)
n.2423+2635A>T
n.1818T>A
10g.18539434T>CCA376071768CACNB2,NSUN6c.1549T>C (p.Ser517Pro)
c.1414T>C (p.Ser472Pro)
c.1537T>C (p.Ser513Pro)
c.1609T>C (p.Ser537Pro)
c.1693T>C (p.Ser565Pro)
c.1531T>C (p.Ser511Pro)
c.1318T>C (p.Ser440Pro)
c.1495T>C (p.Ser499Pro)
c.*834T>C (n.*834T>C)
c.1435T>C (p.Ser479Pro)
c.*967T>C (n.*967T>C)
c.1250T>C (n.1250T>C)
c.*932T>C (n.*932T>C)
c.1513T>C (p.Ser505Pro)
c.*793T>C (n.*793T>C)
c.1621T>C (p.Ser541Pro)
c.943T>C (p.Ser315Pro)
c.1528T>C (p.Ser510Pro)
c.1397T>C (n.1397T>C)
c.205T>C (p.Ser69Pro)
c.778T>C (p.Ser260Pro)
c.1456T>C (p.Ser486Pro)
c.1579T>C (p.Ser527Pro)
c.853T>C (p.Ser285Pro)
c.1459T>C (p.Ser487Pro)
n.2423+2635A>G
n.1818T>C
 ClinVar
10g.18539434T>GCA376071766CACNB2,NSUN6c.1549T>G (p.Ser517Ala)
c.1414T>G (p.Ser472Ala)
c.1537T>G (p.Ser513Ala)
c.1609T>G (p.Ser537Ala)
c.1693T>G (p.Ser565Ala)
c.1531T>G (p.Ser511Ala)
c.1318T>G (p.Ser440Ala)
c.1495T>G (p.Ser499Ala)
c.*834T>G (n.*834T>G)
c.1435T>G (p.Ser479Ala)
c.*967T>G (n.*967T>G)
c.1250T>G (n.1250T>G)
c.*932T>G (n.*932T>G)
c.1513T>G (p.Ser505Ala)
c.*793T>G (n.*793T>G)
c.1621T>G (p.Ser541Ala)
c.943T>G (p.Ser315Ala)
c.1528T>G (p.Ser510Ala)
c.1397T>G (n.1397T>G)
c.205T>G (p.Ser69Ala)
c.778T>G (p.Ser260Ala)
c.1456T>G (p.Ser486Ala)
c.1579T>G (p.Ser527Ala)
c.853T>G (p.Ser285Ala)
c.1459T>G (p.Ser487Ala)
n.2423+2635A>C
n.1818T>G
10g.18539435C>ACA376071772CACNB2,NSUN6c.1550C>A (p.Ser517Tyr)
c.1415C>A (p.Ser472Tyr)
c.1538C>A (p.Ser513Tyr)
c.1610C>A (p.Ser537Tyr)
c.1694C>A (p.Ser565Tyr)
c.1532C>A (p.Ser511Tyr)
c.1319C>A (p.Ser440Tyr)
c.1496C>A (p.Ser499Tyr)
c.*835C>A (n.*835C>A)
c.1436C>A (p.Ser479Tyr)
c.*968C>A (n.*968C>A)
c.1251C>A (n.1251C>A)
c.*933C>A (n.*933C>A)
c.1514C>A (p.Ser505Tyr)
c.*794C>A (n.*794C>A)
c.1622C>A (p.Ser541Tyr)
c.944C>A (p.Ser315Tyr)
c.1529C>A (p.Ser510Tyr)
c.1398C>A (n.1398C>A)
c.206C>A (p.Ser69Tyr)
c.779C>A (p.Ser260Tyr)
c.1457C>A (p.Ser486Tyr)
c.1580C>A (p.Ser527Tyr)
c.854C>A (p.Ser285Tyr)
c.1460C>A (p.Ser487Tyr)
n.2423+2634G>T
n.1819C>A
10g.18539435C=CA1894173355CACNB2,NSUN6c.1550C= (p.Ser517=)
c.1415C= (p.Ser472=)
c.1538C= (p.Ser513=)
c.1610C= (p.Ser537=)
c.1694C= (p.Ser565=)
c.1532C= (p.Ser511=)
c.1319C= (p.Ser440=)
c.1496C= (p.Ser499=)
c.*835C= (n.*835C=)
c.1436C= (p.Ser479=)
c.*968C= (n.*968C=)
c.1251C= (n.1251C=)
c.*933C= (n.*933C=)
c.1514C= (p.Ser505=)
c.*794C= (n.*794C=)
c.1622C= (p.Ser541=)
c.944C= (p.Ser315=)
c.1529C= (p.Ser510=)
c.1398C= (n.1398C=)
c.206C= (p.Ser69=)
c.779C= (p.Ser260=)
c.1457C= (p.Ser486=)
c.1580C= (p.Ser527=)
c.854C= (p.Ser285=)
c.1460C= (p.Ser487=)
n.2423+2634G=
n.1819C=
10g.18539435C>GCA376071775CACNB2,NSUN6c.1550C>G (p.Ser517Cys)
c.1415C>G (p.Ser472Cys)
c.1538C>G (p.Ser513Cys)
c.1610C>G (p.Ser537Cys)
c.1694C>G (p.Ser565Cys)
c.1532C>G (p.Ser511Cys)
c.1319C>G (p.Ser440Cys)
c.1496C>G (p.Ser499Cys)
c.*835C>G (n.*835C>G)
c.1436C>G (p.Ser479Cys)
c.*968C>G (n.*968C>G)
c.1251C>G (n.1251C>G)
c.*933C>G (n.*933C>G)
c.1514C>G (p.Ser505Cys)
c.*794C>G (n.*794C>G)
c.1622C>G (p.Ser541Cys)
c.944C>G (p.Ser315Cys)
c.1529C>G (p.Ser510Cys)
c.1398C>G (n.1398C>G)
c.206C>G (p.Ser69Cys)
c.779C>G (p.Ser260Cys)
c.1457C>G (p.Ser486Cys)
c.1580C>G (p.Ser527Cys)
c.854C>G (p.Ser285Cys)
c.1460C>G (p.Ser487Cys)
n.2423+2634G>C
n.1819C>G
 gnomAD v4
10g.18539435C>TCA376071773CACNB2,NSUN6c.1550C>T (p.Ser517Phe)
c.1415C>T (p.Ser472Phe)
c.1538C>T (p.Ser513Phe)
c.1610C>T (p.Ser537Phe)
c.1694C>T (p.Ser565Phe)
c.1532C>T (p.Ser511Phe)
c.1319C>T (p.Ser440Phe)
c.1496C>T (p.Ser499Phe)
c.*835C>T (n.*835C>T)
c.1436C>T (p.Ser479Phe)
c.*968C>T (n.*968C>T)
c.1251C>T (n.1251C>T)
c.*933C>T (n.*933C>T)
c.1514C>T (p.Ser505Phe)
c.*794C>T (n.*794C>T)
c.1622C>T (p.Ser541Phe)
c.944C>T (p.Ser315Phe)
c.1529C>T (p.Ser510Phe)
c.1398C>T (n.1398C>T)
c.206C>T (p.Ser69Phe)
c.779C>T (p.Ser260Phe)
c.1457C>T (p.Ser486Phe)
c.1580C>T (p.Ser527Phe)
c.854C>T (p.Ser285Phe)
c.1460C>T (p.Ser487Phe)
n.2423+2634G>A
n.1819C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539436T>ACA468629127CACNB2,NSUN6c.1551T>A (p.Ser517=)
c.1416T>A (p.Ser472=)
c.1539T>A (p.Ser513=)
c.1611T>A (p.Ser537=)
c.1695T>A (p.Ser565=)
c.1533T>A (p.Ser511=)
c.1320T>A (p.Ser440=)
c.1497T>A (p.Ser499=)
c.*836T>A (n.*836T>A)
c.1437T>A (p.Ser479=)
c.*969T>A (n.*969T>A)
c.1252T>A (n.1252T>A)
c.*934T>A (n.*934T>A)
c.1515T>A (p.Ser505=)
c.*795T>A (n.*795T>A)
c.1623T>A (p.Ser541=)
c.945T>A (p.Ser315=)
c.1530T>A (p.Ser510=)
c.1399T>A (n.1399T>A)
c.207T>A (p.Ser69=)
c.780T>A (p.Ser260=)
c.1458T>A (p.Ser486=)
c.1581T>A (p.Ser527=)
c.855T>A (p.Ser285=)
c.1461T>A (p.Ser487=)
n.2423+2633A>T
n.1820T>A
10g.18539436T>CCA5430131CACNB2,NSUN6c.1551T>C (p.Ser517=)
c.1416T>C (p.Ser472=)
c.1539T>C (p.Ser513=)
c.1611T>C (p.Ser537=)
c.1695T>C (p.Ser565=)
c.1533T>C (p.Ser511=)
c.1320T>C (p.Ser440=)
c.1497T>C (p.Ser499=)
c.*836T>C (n.*836T>C)
c.1437T>C (p.Ser479=)
c.*969T>C (n.*969T>C)
c.1252T>C (n.1252T>C)
c.*934T>C (n.*934T>C)
c.1515T>C (p.Ser505=)
c.*795T>C (n.*795T>C)
c.1623T>C (p.Ser541=)
c.945T>C (p.Ser315=)
c.1530T>C (p.Ser510=)
c.1399T>C (n.1399T>C)
c.207T>C (p.Ser69=)
c.780T>C (p.Ser260=)
c.1458T>C (p.Ser486=)
c.1581T>C (p.Ser527=)
c.855T>C (p.Ser285=)
c.1461T>C (p.Ser487=)
n.2423+2633A>G
n.1820T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539436T>GCA468629134CACNB2,NSUN6c.1551T>G (p.Ser517=)
c.1416T>G (p.Ser472=)
c.1539T>G (p.Ser513=)
c.1611T>G (p.Ser537=)
c.1695T>G (p.Ser565=)
c.1533T>G (p.Ser511=)
c.1320T>G (p.Ser440=)
c.1497T>G (p.Ser499=)
c.*836T>G (n.*836T>G)
c.1437T>G (p.Ser479=)
c.*969T>G (n.*969T>G)
c.1252T>G (n.1252T>G)
c.*934T>G (n.*934T>G)
c.1515T>G (p.Ser505=)
c.*795T>G (n.*795T>G)
c.1623T>G (p.Ser541=)
c.945T>G (p.Ser315=)
c.1530T>G (p.Ser510=)
c.1399T>G (n.1399T>G)
c.207T>G (p.Ser69=)
c.780T>G (p.Ser260=)
c.1458T>G (p.Ser486=)
c.1581T>G (p.Ser527=)
c.855T>G (p.Ser285=)
c.1461T>G (p.Ser487=)
n.2423+2633A>C
n.1820T>G
10g.18539436T=CA1894173359CACNB2,NSUN6c.1551T= (p.Ser517=)
c.1416T= (p.Ser472=)
c.1539T= (p.Ser513=)
c.1611T= (p.Ser537=)
c.1695T= (p.Ser565=)
c.1533T= (p.Ser511=)
c.1320T= (p.Ser440=)
c.1497T= (p.Ser499=)
c.*836T= (n.*836T=)
c.1437T= (p.Ser479=)
c.*969T= (n.*969T=)
c.1252T= (n.1252T=)
c.*934T= (n.*934T=)
c.1515T= (p.Ser505=)
c.*795T= (n.*795T=)
c.1623T= (p.Ser541=)
c.945T= (p.Ser315=)
c.1530T= (p.Ser510=)
c.1399T= (n.1399T=)
c.207T= (p.Ser69=)
c.780T= (p.Ser260=)
c.1458T= (p.Ser486=)
c.1581T= (p.Ser527=)
c.855T= (p.Ser285=)
c.1461T= (p.Ser487=)
n.2423+2633A=
n.1820T=
10g.18539437G>ACA235681CACNB2,NSUN6c.1552G>A (p.Ala518Thr)
c.1417G>A (p.Ala473Thr)
c.1540G>A (p.Ala514Thr)
c.1612G>A (p.Ala538Thr)
c.1696G>A (p.Ala566Thr)
c.1534G>A (p.Ala512Thr)
c.1321G>A (p.Ala441Thr)
c.1498G>A (p.Ala500Thr)
c.*837G>A (n.*837G>A)
c.1438G>A (p.Ala480Thr)
c.*970G>A (n.*970G>A)
c.1253G>A (n.1253G>A)
c.*935G>A (n.*935G>A)
c.1516G>A (p.Ala506Thr)
c.*796G>A (n.*796G>A)
c.1624G>A (p.Ala542Thr)
c.946G>A (p.Ala316Thr)
c.1531G>A (p.Ala511Thr)
c.1400G>A (n.1400G>A)
c.208G>A (p.Ala70Thr)
c.781G>A (p.Ala261Thr)
c.1459G>A (p.Ala487Thr)
c.1582G>A (p.Ala528Thr)
c.856G>A (p.Ala286Thr)
c.1462G>A (p.Ala488Thr)
n.2423+2632C>T
n.1821G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539437G>CCA376071779CACNB2,NSUN6c.1552G>C (p.Ala518Pro)
c.1417G>C (p.Ala473Pro)
c.1540G>C (p.Ala514Pro)
c.1612G>C (p.Ala538Pro)
c.1696G>C (p.Ala566Pro)
c.1534G>C (p.Ala512Pro)
c.1321G>C (p.Ala441Pro)
c.1498G>C (p.Ala500Pro)
c.*837G>C (n.*837G>C)
c.1438G>C (p.Ala480Pro)
c.*970G>C (n.*970G>C)
c.1253G>C (n.1253G>C)
c.*935G>C (n.*935G>C)
c.1516G>C (p.Ala506Pro)
c.*796G>C (n.*796G>C)
c.1624G>C (p.Ala542Pro)
c.946G>C (p.Ala316Pro)
c.1531G>C (p.Ala511Pro)
c.1400G>C (n.1400G>C)
c.208G>C (p.Ala70Pro)
c.781G>C (p.Ala261Pro)
c.1459G>C (p.Ala487Pro)
c.1582G>C (p.Ala528Pro)
c.856G>C (p.Ala286Pro)
c.1462G>C (p.Ala488Pro)
n.2423+2632C>G
n.1821G>C
 dbSNP
10g.18539437G=CA1894173362CACNB2,NSUN6c.1552G= (p.Ala518=)
c.1417G= (p.Ala473=)
c.1540G= (p.Ala514=)
c.1612G= (p.Ala538=)
c.1696G= (p.Ala566=)
c.1534G= (p.Ala512=)
c.1321G= (p.Ala441=)
c.1498G= (p.Ala500=)
c.*837G= (n.*837G=)
c.1438G= (p.Ala480=)
c.*970G= (n.*970G=)
c.1253G= (n.1253G=)
c.*935G= (n.*935G=)
c.1516G= (p.Ala506=)
c.*796G= (n.*796G=)
c.1624G= (p.Ala542=)
c.946G= (p.Ala316=)
c.1531G= (p.Ala511=)
c.1400G= (n.1400G=)
c.208G= (p.Ala70=)
c.781G= (p.Ala261=)
c.1459G= (p.Ala487=)
c.1582G= (p.Ala528=)
c.856G= (p.Ala286=)
c.1462G= (p.Ala488=)
n.2423+2632C=
n.1821G=
10g.18539437G>TCA376071782CACNB2,NSUN6c.1552G>T (p.Ala518Ser)
c.1417G>T (p.Ala473Ser)
c.1540G>T (p.Ala514Ser)
c.1612G>T (p.Ala538Ser)
c.1696G>T (p.Ala566Ser)
c.1534G>T (p.Ala512Ser)
c.1321G>T (p.Ala441Ser)
c.1498G>T (p.Ala500Ser)
c.*837G>T (n.*837G>T)
c.1438G>T (p.Ala480Ser)
c.*970G>T (n.*970G>T)
c.1253G>T (n.1253G>T)
c.*935G>T (n.*935G>T)
c.1516G>T (p.Ala506Ser)
c.*796G>T (n.*796G>T)
c.1624G>T (p.Ala542Ser)
c.946G>T (p.Ala316Ser)
c.1531G>T (p.Ala511Ser)
c.1400G>T (n.1400G>T)
c.208G>T (p.Ala70Ser)
c.781G>T (p.Ala261Ser)
c.1459G>T (p.Ala487Ser)
c.1582G>T (p.Ala528Ser)
c.856G>T (p.Ala286Ser)
c.1462G>T (p.Ala488Ser)
n.2423+2632C>A
n.1821G>T
10g.18539438C>ACA376071785CACNB2,NSUN6c.1553C>A (p.Ala518Asp)
c.1418C>A (p.Ala473Asp)
c.1541C>A (p.Ala514Asp)
c.1613C>A (p.Ala538Asp)
c.1697C>A (p.Ala566Asp)
c.1535C>A (p.Ala512Asp)
c.1322C>A (p.Ala441Asp)
c.1499C>A (p.Ala500Asp)
c.*838C>A (n.*838C>A)
c.1439C>A (p.Ala480Asp)
c.*971C>A (n.*971C>A)
c.1254C>A (n.1254C>A)
c.*936C>A (n.*936C>A)
c.1517C>A (p.Ala506Asp)
c.*797C>A (n.*797C>A)
c.1625C>A (p.Ala542Asp)
c.947C>A (p.Ala316Asp)
c.1532C>A (p.Ala511Asp)
c.1401C>A (n.1401C>A)
c.209C>A (p.Ala70Asp)
c.782C>A (p.Ala261Asp)
c.1460C>A (p.Ala487Asp)
c.1583C>A (p.Ala528Asp)
c.857C>A (p.Ala286Asp)
c.1463C>A (p.Ala488Asp)
n.2423+2631G>T
n.1822C>A
10g.18539438C=CA1894173369CACNB2,NSUN6c.1553C= (p.Ala518=)
c.1418C= (p.Ala473=)
c.1541C= (p.Ala514=)
c.1613C= (p.Ala538=)
c.1697C= (p.Ala566=)
c.1535C= (p.Ala512=)
c.1322C= (p.Ala441=)
c.1499C= (p.Ala500=)
c.*838C= (n.*838C=)
c.1439C= (p.Ala480=)
c.*971C= (n.*971C=)
c.1254C= (n.1254C=)
c.*936C= (n.*936C=)
c.1517C= (p.Ala506=)
c.*797C= (n.*797C=)
c.1625C= (p.Ala542=)
c.947C= (p.Ala316=)
c.1532C= (p.Ala511=)
c.1401C= (n.1401C=)
c.209C= (p.Ala70=)
c.782C= (p.Ala261=)
c.1460C= (p.Ala487=)
c.1583C= (p.Ala528=)
c.857C= (p.Ala286=)
c.1463C= (p.Ala488=)
n.2423+2631G=
n.1822C=
10g.18539438C>GCA376071787CACNB2,NSUN6c.1553C>G (p.Ala518Gly)
c.1418C>G (p.Ala473Gly)
c.1541C>G (p.Ala514Gly)
c.1613C>G (p.Ala538Gly)
c.1697C>G (p.Ala566Gly)
c.1535C>G (p.Ala512Gly)
c.1322C>G (p.Ala441Gly)
c.1499C>G (p.Ala500Gly)
c.*838C>G (n.*838C>G)
c.1439C>G (p.Ala480Gly)
c.*971C>G (n.*971C>G)
c.1254C>G (n.1254C>G)
c.*936C>G (n.*936C>G)
c.1517C>G (p.Ala506Gly)
c.*797C>G (n.*797C>G)
c.1625C>G (p.Ala542Gly)
c.947C>G (p.Ala316Gly)
c.1532C>G (p.Ala511Gly)
c.1401C>G (n.1401C>G)
c.209C>G (p.Ala70Gly)
c.782C>G (p.Ala261Gly)
c.1460C>G (p.Ala487Gly)
c.1583C>G (p.Ala528Gly)
c.857C>G (p.Ala286Gly)
c.1463C>G (p.Ala488Gly)
n.2423+2631G>C
n.1822C>G
10g.18539438C>TCA203167223CACNB2,NSUN6c.1553C>T (p.Ala518Val)
c.1418C>T (p.Ala473Val)
c.1541C>T (p.Ala514Val)
c.1613C>T (p.Ala538Val)
c.1697C>T (p.Ala566Val)
c.1535C>T (p.Ala512Val)
c.1322C>T (p.Ala441Val)
c.1499C>T (p.Ala500Val)
c.*838C>T (n.*838C>T)
c.1439C>T (p.Ala480Val)
c.*971C>T (n.*971C>T)
c.1254C>T (n.1254C>T)
c.*936C>T (n.*936C>T)
c.1517C>T (p.Ala506Val)
c.*797C>T (n.*797C>T)
c.1625C>T (p.Ala542Val)
c.947C>T (p.Ala316Val)
c.1532C>T (p.Ala511Val)
c.1401C>T (n.1401C>T)
c.209C>T (p.Ala70Val)
c.782C>T (p.Ala261Val)
c.1460C>T (p.Ala487Val)
c.1583C>T (p.Ala528Val)
c.857C>T (p.Ala286Val)
c.1463C>T (p.Ala488Val)
n.2423+2631G>A
n.1822C>T
 dbSNP gnomAD v4
10g.18539439C>ACA468629157CACNB2,NSUN6c.1554C>A (p.Ala518=)
c.1419C>A (p.Ala473=)
c.1542C>A (p.Ala514=)
c.1614C>A (p.Ala538=)
c.1698C>A (p.Ala566=)
c.1536C>A (p.Ala512=)
c.1323C>A (p.Ala441=)
c.1500C>A (p.Ala500=)
c.*839C>A (n.*839C>A)
c.1440C>A (p.Ala480=)
c.*972C>A (n.*972C>A)
c.1255C>A (n.1255C>A)
c.*937C>A (n.*937C>A)
c.1518C>A (p.Ala506=)
c.*798C>A (n.*798C>A)
c.1626C>A (p.Ala542=)
c.948C>A (p.Ala316=)
c.1533C>A (p.Ala511=)
c.1402C>A (n.1402C>A)
c.210C>A (p.Ala70=)
c.783C>A (p.Ala261=)
c.1461C>A (p.Ala487=)
c.1584C>A (p.Ala528=)
c.858C>A (p.Ala286=)
c.1464C>A (p.Ala488=)
n.2423+2630G>T
n.1823C>A
10g.18539439C=CA1894173376CACNB2,NSUN6c.1554C= (p.Ala518=)
c.1419C= (p.Ala473=)
c.1542C= (p.Ala514=)
c.1614C= (p.Ala538=)
c.1698C= (p.Ala566=)
c.1536C= (p.Ala512=)
c.1323C= (p.Ala441=)
c.1500C= (p.Ala500=)
c.*839C= (n.*839C=)
c.1440C= (p.Ala480=)
c.*972C= (n.*972C=)
c.1255C= (n.1255C=)
c.*937C= (n.*937C=)
c.1518C= (p.Ala506=)
c.*798C= (n.*798C=)
c.1626C= (p.Ala542=)
c.948C= (p.Ala316=)
c.1533C= (p.Ala511=)
c.1402C= (n.1402C=)
c.210C= (p.Ala70=)
c.783C= (p.Ala261=)
c.1461C= (p.Ala487=)
c.1584C= (p.Ala528=)
c.858C= (p.Ala286=)
c.1464C= (p.Ala488=)
n.2423+2630G=
n.1823C=
10g.18539439C>GCA10628354CACNB2,NSUN6c.1554C>G (p.Ala518=)
c.1419C>G (p.Ala473=)
c.1542C>G (p.Ala514=)
c.1614C>G (p.Ala538=)
c.1698C>G (p.Ala566=)
c.1536C>G (p.Ala512=)
c.1323C>G (p.Ala441=)
c.1500C>G (p.Ala500=)
c.*839C>G (n.*839C>G)
c.1440C>G (p.Ala480=)
c.*972C>G (n.*972C>G)
c.1255C>G (n.1255C>G)
c.*937C>G (n.*937C>G)
c.1518C>G (p.Ala506=)
c.*798C>G (n.*798C>G)
c.1626C>G (p.Ala542=)
c.948C>G (p.Ala316=)
c.1533C>G (p.Ala511=)
c.1402C>G (n.1402C>G)
c.210C>G (p.Ala70=)
c.783C>G (p.Ala261=)
c.1461C>G (p.Ala487=)
c.1584C>G (p.Ala528=)
c.858C>G (p.Ala286=)
c.1464C>G (p.Ala488=)
n.2423+2630G>C
n.1823C>G
 dbSNP
10g.18539439C>TCA468629161CACNB2,NSUN6c.1554C>T (p.Ala518=)
c.1419C>T (p.Ala473=)
c.1542C>T (p.Ala514=)
c.1614C>T (p.Ala538=)
c.1698C>T (p.Ala566=)
c.1536C>T (p.Ala512=)
c.1323C>T (p.Ala441=)
c.1500C>T (p.Ala500=)
c.*839C>T (n.*839C>T)
c.1440C>T (p.Ala480=)
c.*972C>T (n.*972C>T)
c.1255C>T (n.1255C>T)
c.*937C>T (n.*937C>T)
c.1518C>T (p.Ala506=)
c.*798C>T (n.*798C>T)
c.1626C>T (p.Ala542=)
c.948C>T (p.Ala316=)
c.1533C>T (p.Ala511=)
c.1402C>T (n.1402C>T)
c.210C>T (p.Ala70=)
c.783C>T (p.Ala261=)
c.1461C>T (p.Ala487=)
c.1584C>T (p.Ala528=)
c.858C>T (p.Ala286=)
c.1464C>T (p.Ala488=)
n.2423+2630G>A
n.1823C>T
10g.18539440T>ACA376071791CACNB2,NSUN6c.1555T>A (p.Tyr519Asn)
c.1420T>A (p.Tyr474Asn)
c.1543T>A (p.Tyr515Asn)
c.1615T>A (p.Tyr539Asn)
c.1699T>A (p.Tyr567Asn)
c.1537T>A (p.Tyr513Asn)
c.1324T>A (p.Tyr442Asn)
c.1501T>A (p.Tyr501Asn)
c.*840T>A (n.*840T>A)
c.1441T>A (p.Tyr481Asn)
c.*973T>A (n.*973T>A)
c.1256T>A (n.1256T>A)
c.*938T>A (n.*938T>A)
c.1519T>A (p.Tyr507Asn)
c.*799T>A (n.*799T>A)
c.1627T>A (p.Tyr543Asn)
c.949T>A (p.Tyr317Asn)
c.1534T>A (p.Tyr512Asn)
c.1403T>A (n.1403T>A)
c.211T>A (p.Tyr71Asn)
c.784T>A (p.Tyr262Asn)
c.1462T>A (p.Tyr488Asn)
c.1585T>A (p.Tyr529Asn)
c.859T>A (p.Tyr287Asn)
c.1465T>A (p.Tyr489Asn)
n.2423+2629A>T
n.1824T>A
10g.18539440T>CCA376071794CACNB2,NSUN6c.1555T>C (p.Tyr519His)
c.1420T>C (p.Tyr474His)
c.1543T>C (p.Tyr515His)
c.1615T>C (p.Tyr539His)
c.1699T>C (p.Tyr567His)
c.1537T>C (p.Tyr513His)
c.1324T>C (p.Tyr442His)
c.1501T>C (p.Tyr501His)
c.*840T>C (n.*840T>C)
c.1441T>C (p.Tyr481His)
c.*973T>C (n.*973T>C)
c.1256T>C (n.1256T>C)
c.*938T>C (n.*938T>C)
c.1519T>C (p.Tyr507His)
c.*799T>C (n.*799T>C)
c.1627T>C (p.Tyr543His)
c.949T>C (p.Tyr317His)
c.1534T>C (p.Tyr512His)
c.1403T>C (n.1403T>C)
c.211T>C (p.Tyr71His)
c.784T>C (p.Tyr262His)
c.1462T>C (p.Tyr488His)
c.1585T>C (p.Tyr529His)
c.859T>C (p.Tyr287His)
c.1465T>C (p.Tyr489His)
n.2423+2629A>G
n.1824T>C
 COSMIC COSMIC
10g.18539440T>GCA376071797CACNB2,NSUN6c.1555T>G (p.Tyr519Asp)
c.1420T>G (p.Tyr474Asp)
c.1543T>G (p.Tyr515Asp)
c.1615T>G (p.Tyr539Asp)
c.1699T>G (p.Tyr567Asp)
c.1537T>G (p.Tyr513Asp)
c.1324T>G (p.Tyr442Asp)
c.1501T>G (p.Tyr501Asp)
c.*840T>G (n.*840T>G)
c.1441T>G (p.Tyr481Asp)
c.*973T>G (n.*973T>G)
c.1256T>G (n.1256T>G)
c.*938T>G (n.*938T>G)
c.1519T>G (p.Tyr507Asp)
c.*799T>G (n.*799T>G)
c.1627T>G (p.Tyr543Asp)
c.949T>G (p.Tyr317Asp)
c.1534T>G (p.Tyr512Asp)
c.1403T>G (n.1403T>G)
c.211T>G (p.Tyr71Asp)
c.784T>G (p.Tyr262Asp)
c.1462T>G (p.Tyr488Asp)
c.1585T>G (p.Tyr529Asp)
c.859T>G (p.Tyr287Asp)
c.1465T>G (p.Tyr489Asp)
n.2423+2629A>C
n.1824T>G
10g.18539441A=CA1894173383CACNB2,NSUN6c.1556A= (p.Tyr519=)
c.1421A= (p.Tyr474=)
c.1544A= (p.Tyr515=)
c.1616A= (p.Tyr539=)
c.1700A= (p.Tyr567=)
c.1538A= (p.Tyr513=)
c.1325A= (p.Tyr442=)
c.1502A= (p.Tyr501=)
c.*841A= (n.*841A=)
c.1442A= (p.Tyr481=)
c.*974A= (n.*974A=)
c.1257A= (n.1257A=)
c.*939A= (n.*939A=)
c.1520A= (p.Tyr507=)
c.*800A= (n.*800A=)
c.1628A= (p.Tyr543=)
c.950A= (p.Tyr317=)
c.1535A= (p.Tyr512=)
c.1404A= (n.1404A=)
c.212A= (p.Tyr71=)
c.785A= (p.Tyr262=)
c.1463A= (p.Tyr488=)
c.1586A= (p.Tyr529=)
c.860A= (p.Tyr287=)
c.1466A= (p.Tyr489=)
n.2423+2628T=
n.1825A=
10g.18539441A>CCA376071799CACNB2,NSUN6c.1556A>C (p.Tyr519Ser)
c.1421A>C (p.Tyr474Ser)
c.1544A>C (p.Tyr515Ser)
c.1616A>C (p.Tyr539Ser)
c.1700A>C (p.Tyr567Ser)
c.1538A>C (p.Tyr513Ser)
c.1325A>C (p.Tyr442Ser)
c.1502A>C (p.Tyr501Ser)
c.*841A>C (n.*841A>C)
c.1442A>C (p.Tyr481Ser)
c.*974A>C (n.*974A>C)
c.1257A>C (n.1257A>C)
c.*939A>C (n.*939A>C)
c.1520A>C (p.Tyr507Ser)
c.*800A>C (n.*800A>C)
c.1628A>C (p.Tyr543Ser)
c.950A>C (p.Tyr317Ser)
c.1535A>C (p.Tyr512Ser)
c.1404A>C (n.1404A>C)
c.212A>C (p.Tyr71Ser)
c.785A>C (p.Tyr262Ser)
c.1463A>C (p.Tyr488Ser)
c.1586A>C (p.Tyr529Ser)
c.860A>C (p.Tyr287Ser)
c.1466A>C (p.Tyr489Ser)
n.2423+2628T>G
n.1825A>C
10g.18539441A>GCA5430132CACNB2,NSUN6c.1556A>G (p.Tyr519Cys)
c.1421A>G (p.Tyr474Cys)
c.1544A>G (p.Tyr515Cys)
c.1616A>G (p.Tyr539Cys)
c.1700A>G (p.Tyr567Cys)
c.1538A>G (p.Tyr513Cys)
c.1325A>G (p.Tyr442Cys)
c.1502A>G (p.Tyr501Cys)
c.*841A>G (n.*841A>G)
c.1442A>G (p.Tyr481Cys)
c.*974A>G (n.*974A>G)
c.1257A>G (n.1257A>G)
c.*939A>G (n.*939A>G)
c.1520A>G (p.Tyr507Cys)
c.*800A>G (n.*800A>G)
c.1628A>G (p.Tyr543Cys)
c.950A>G (p.Tyr317Cys)
c.1535A>G (p.Tyr512Cys)
c.1404A>G (n.1404A>G)
c.212A>G (p.Tyr71Cys)
c.785A>G (p.Tyr262Cys)
c.1463A>G (p.Tyr488Cys)
c.1586A>G (p.Tyr529Cys)
c.860A>G (p.Tyr287Cys)
c.1466A>G (p.Tyr489Cys)
n.2423+2628T>C
n.1825A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539441A>TCA376071802CACNB2,NSUN6c.1556A>T (p.Tyr519Phe)
c.1421A>T (p.Tyr474Phe)
c.1544A>T (p.Tyr515Phe)
c.1616A>T (p.Tyr539Phe)
c.1700A>T (p.Tyr567Phe)
c.1538A>T (p.Tyr513Phe)
c.1325A>T (p.Tyr442Phe)
c.1502A>T (p.Tyr501Phe)
c.*841A>T (n.*841A>T)
c.1442A>T (p.Tyr481Phe)
c.*974A>T (n.*974A>T)
c.1257A>T (n.1257A>T)
c.*939A>T (n.*939A>T)
c.1520A>T (p.Tyr507Phe)
c.*800A>T (n.*800A>T)
c.1628A>T (p.Tyr543Phe)
c.950A>T (p.Tyr317Phe)
c.1535A>T (p.Tyr512Phe)
c.1404A>T (n.1404A>T)
c.212A>T (p.Tyr71Phe)
c.785A>T (p.Tyr262Phe)
c.1463A>T (p.Tyr488Phe)
c.1586A>T (p.Tyr529Phe)
c.860A>T (p.Tyr287Phe)
c.1466A>T (p.Tyr489Phe)
n.2423+2628T>A
n.1825A>T
10g.18539442C>ACA5430134CACNB2,NSUN6c.1557C>A (p.Tyr519Ter)
c.1422C>A (p.Tyr474Ter)
c.1545C>A (p.Tyr515Ter)
c.1617C>A (p.Tyr539Ter)
c.1701C>A (p.Tyr567Ter)
c.1539C>A (p.Tyr513Ter)
c.1326C>A (p.Tyr442Ter)
c.1503C>A (p.Tyr501Ter)
c.*842C>A (n.*842C>A)
c.1443C>A (p.Tyr481Ter)
c.*975C>A (n.*975C>A)
c.1258C>A (n.1258C>A)
c.*940C>A (n.*940C>A)
c.1521C>A (p.Tyr507Ter)
c.*801C>A (n.*801C>A)
c.1629C>A (p.Tyr543Ter)
c.951C>A (p.Tyr317Ter)
c.1536C>A (p.Tyr512Ter)
c.1405C>A (n.1405C>A)
c.213C>A (p.Tyr71Ter)
c.786C>A (p.Tyr262Ter)
c.1464C>A (p.Tyr488Ter)
c.1587C>A (p.Tyr529Ter)
c.861C>A (p.Tyr287Ter)
c.1467C>A (p.Tyr489Ter)
n.2423+2627G>T
n.1826C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539442C=CA1894173394CACNB2,NSUN6c.1557C= (p.Tyr519=)
c.1422C= (p.Tyr474=)
c.1545C= (p.Tyr515=)
c.1617C= (p.Tyr539=)
c.1701C= (p.Tyr567=)
c.1539C= (p.Tyr513=)
c.1326C= (p.Tyr442=)
c.1503C= (p.Tyr501=)
c.*842C= (n.*842C=)
c.1443C= (p.Tyr481=)
c.*975C= (n.*975C=)
c.1258C= (n.1258C=)
c.*940C= (n.*940C=)
c.1521C= (p.Tyr507=)
c.*801C= (n.*801C=)
c.1629C= (p.Tyr543=)
c.951C= (p.Tyr317=)
c.1536C= (p.Tyr512=)
c.1405C= (n.1405C=)
c.213C= (p.Tyr71=)
c.786C= (p.Tyr262=)
c.1464C= (p.Tyr488=)
c.1587C= (p.Tyr529=)
c.861C= (p.Tyr287=)
c.1467C= (p.Tyr489=)
n.2423+2627G=
n.1826C=
10g.18539442C>GCA376071807CACNB2,NSUN6c.1557C>G (p.Tyr519Ter)
c.1422C>G (p.Tyr474Ter)
c.1545C>G (p.Tyr515Ter)
c.1617C>G (p.Tyr539Ter)
c.1701C>G (p.Tyr567Ter)
c.1539C>G (p.Tyr513Ter)
c.1326C>G (p.Tyr442Ter)
c.1503C>G (p.Tyr501Ter)
c.*842C>G (n.*842C>G)
c.1443C>G (p.Tyr481Ter)
c.*975C>G (n.*975C>G)
c.1258C>G (n.1258C>G)
c.*940C>G (n.*940C>G)
c.1521C>G (p.Tyr507Ter)
c.*801C>G (n.*801C>G)
c.1629C>G (p.Tyr543Ter)
c.951C>G (p.Tyr317Ter)
c.1536C>G (p.Tyr512Ter)
c.1405C>G (n.1405C>G)
c.213C>G (p.Tyr71Ter)
c.786C>G (p.Tyr262Ter)
c.1464C>G (p.Tyr488Ter)
c.1587C>G (p.Tyr529Ter)
c.861C>G (p.Tyr287Ter)
c.1467C>G (p.Tyr489Ter)
n.2423+2627G>C
n.1826C>G
 ClinVar dbSNP gnomAD v4
10g.18539442C>TCA5430133CACNB2,NSUN6c.1557C>T (p.Tyr519=)
c.1422C>T (p.Tyr474=)
c.1545C>T (p.Tyr515=)
c.1617C>T (p.Tyr539=)
c.1701C>T (p.Tyr567=)
c.1539C>T (p.Tyr513=)
c.1326C>T (p.Tyr442=)
c.1503C>T (p.Tyr501=)
c.*842C>T (n.*842C>T)
c.1443C>T (p.Tyr481=)
c.*975C>T (n.*975C>T)
c.1258C>T (n.1258C>T)
c.*940C>T (n.*940C>T)
c.1521C>T (p.Tyr507=)
c.*801C>T (n.*801C>T)
c.1629C>T (p.Tyr543=)
c.951C>T (p.Tyr317=)
c.1536C>T (p.Tyr512=)
c.1405C>T (n.1405C>T)
c.213C>T (p.Tyr71=)
c.786C>T (p.Tyr262=)
c.1464C>T (p.Tyr488=)
c.1587C>T (p.Tyr529=)
c.861C>T (p.Tyr287=)
c.1467C>T (p.Tyr489=)
n.2423+2627G>A
n.1826C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539443G>ACA301823CACNB2,NSUN6c.1558G>A (p.Val520Ile)
c.1423G>A (p.Val475Ile)
c.1546G>A (p.Val516Ile)
c.1618G>A (p.Val540Ile)
c.1702G>A (p.Val568Ile)
c.1540G>A (p.Val514Ile)
c.1327G>A (p.Val443Ile)
c.1504G>A (p.Val502Ile)
c.*843G>A (n.*843G>A)
c.1444G>A (p.Val482Ile)
c.*976G>A (n.*976G>A)
c.1259G>A (n.1259G>A)
c.*941G>A (n.*941G>A)
c.1522G>A (p.Val508Ile)
c.*802G>A (n.*802G>A)
c.1630G>A (p.Val544Ile)
c.952G>A (p.Val318Ile)
c.1537G>A (p.Val513Ile)
c.1406G>A (n.1406G>A)
c.214G>A (p.Val72Ile)
c.787G>A (p.Val263Ile)
c.1465G>A (p.Val489Ile)
c.1588G>A (p.Val530Ile)
c.862G>A (p.Val288Ile)
c.1468G>A (p.Val490Ile)
n.2423+2626C>T
n.1827G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539443G>CCA5430135CACNB2,NSUN6c.1558G>C (p.Val520Leu)
c.1423G>C (p.Val475Leu)
c.1546G>C (p.Val516Leu)
c.1618G>C (p.Val540Leu)
c.1702G>C (p.Val568Leu)
c.1540G>C (p.Val514Leu)
c.1327G>C (p.Val443Leu)
c.1504G>C (p.Val502Leu)
c.*843G>C (n.*843G>C)
c.1444G>C (p.Val482Leu)
c.*976G>C (n.*976G>C)
c.1259G>C (n.1259G>C)
c.*941G>C (n.*941G>C)
c.1522G>C (p.Val508Leu)
c.*802G>C (n.*802G>C)
c.1630G>C (p.Val544Leu)
c.952G>C (p.Val318Leu)
c.1537G>C (p.Val513Leu)
c.1406G>C (n.1406G>C)
c.214G>C (p.Val72Leu)
c.787G>C (p.Val263Leu)
c.1465G>C (p.Val489Leu)
c.1588G>C (p.Val530Leu)
c.862G>C (p.Val288Leu)
c.1468G>C (p.Val490Leu)
n.2423+2626C>G
n.1827G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539443G=CA1894173408CACNB2,NSUN6c.1558G= (p.Val520=)
c.1423G= (p.Val475=)
c.1546G= (p.Val516=)
c.1618G= (p.Val540=)
c.1702G= (p.Val568=)
c.1540G= (p.Val514=)
c.1327G= (p.Val443=)
c.1504G= (p.Val502=)
c.*843G= (n.*843G=)
c.1444G= (p.Val482=)
c.*976G= (n.*976G=)
c.1259G= (n.1259G=)
c.*941G= (n.*941G=)
c.1522G= (p.Val508=)
c.*802G= (n.*802G=)
c.1630G= (p.Val544=)
c.952G= (p.Val318=)
c.1537G= (p.Val513=)
c.1406G= (n.1406G=)
c.214G= (p.Val72=)
c.787G= (p.Val263=)
c.1465G= (p.Val489=)
c.1588G= (p.Val530=)
c.862G= (p.Val288=)
c.1468G= (p.Val490=)
n.2423+2626C=
n.1827G=
10g.18539443G>TCA5430136CACNB2,NSUN6c.1558G>T (p.Val520Leu)
c.1423G>T (p.Val475Leu)
c.1546G>T (p.Val516Leu)
c.1618G>T (p.Val540Leu)
c.1702G>T (p.Val568Leu)
c.1540G>T (p.Val514Leu)
c.1327G>T (p.Val443Leu)
c.1504G>T (p.Val502Leu)
c.*843G>T (n.*843G>T)
c.1444G>T (p.Val482Leu)
c.*976G>T (n.*976G>T)
c.1259G>T (n.1259G>T)
c.*941G>T (n.*941G>T)
c.1522G>T (p.Val508Leu)
c.*802G>T (n.*802G>T)
c.1630G>T (p.Val544Leu)
c.952G>T (p.Val318Leu)
c.1537G>T (p.Val513Leu)
c.1406G>T (n.1406G>T)
c.214G>T (p.Val72Leu)
c.787G>T (p.Val263Leu)
c.1465G>T (p.Val489Leu)
c.1588G>T (p.Val530Leu)
c.862G>T (p.Val288Leu)
c.1468G>T (p.Val490Leu)
n.2423+2626C>A
n.1827G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539444T>ACA376071817CACNB2,NSUN6c.1559T>A (p.Val520Glu)
c.1424T>A (p.Val475Glu)
c.1547T>A (p.Val516Glu)
c.1619T>A (p.Val540Glu)
c.1703T>A (p.Val568Glu)
c.1541T>A (p.Val514Glu)
c.1328T>A (p.Val443Glu)
c.1505T>A (p.Val502Glu)
c.*844T>A (n.*844T>A)
c.1445T>A (p.Val482Glu)
c.*977T>A (n.*977T>A)
c.1260T>A (n.1260T>A)
c.*942T>A (n.*942T>A)
c.1523T>A (p.Val508Glu)
c.*803T>A (n.*803T>A)
c.1631T>A (p.Val544Glu)
c.953T>A (p.Val318Glu)
c.1538T>A (p.Val513Glu)
c.1407T>A (n.1407T>A)
c.215T>A (p.Val72Glu)
c.788T>A (p.Val263Glu)
c.1466T>A (p.Val489Glu)
c.1589T>A (p.Val530Glu)
c.863T>A (p.Val288Glu)
c.1469T>A (p.Val490Glu)
n.2423+2625A>T
n.1828T>A
10g.18539444T>CCA376071823CACNB2,NSUN6c.1559T>C (p.Val520Ala)
c.1424T>C (p.Val475Ala)
c.1547T>C (p.Val516Ala)
c.1619T>C (p.Val540Ala)
c.1703T>C (p.Val568Ala)
c.1541T>C (p.Val514Ala)
c.1328T>C (p.Val443Ala)
c.1505T>C (p.Val502Ala)
c.*844T>C (n.*844T>C)
c.1445T>C (p.Val482Ala)
c.*977T>C (n.*977T>C)
c.1260T>C (n.1260T>C)
c.*942T>C (n.*942T>C)
c.1523T>C (p.Val508Ala)
c.*803T>C (n.*803T>C)
c.1631T>C (p.Val544Ala)
c.953T>C (p.Val318Ala)
c.1538T>C (p.Val513Ala)
c.1407T>C (n.1407T>C)
c.215T>C (p.Val72Ala)
c.788T>C (p.Val263Ala)
c.1466T>C (p.Val489Ala)
c.1589T>C (p.Val530Ala)
c.863T>C (p.Val288Ala)
c.1469T>C (p.Val490Ala)
n.2423+2625A>G
n.1828T>C
10g.18539444T>GCA376071826CACNB2,NSUN6c.1559T>G (p.Val520Gly)
c.1424T>G (p.Val475Gly)
c.1547T>G (p.Val516Gly)
c.1619T>G (p.Val540Gly)
c.1703T>G (p.Val568Gly)
c.1541T>G (p.Val514Gly)
c.1328T>G (p.Val443Gly)
c.1505T>G (p.Val502Gly)
c.*844T>G (n.*844T>G)
c.1445T>G (p.Val482Gly)
c.*977T>G (n.*977T>G)
c.1260T>G (n.1260T>G)
c.*942T>G (n.*942T>G)
c.1523T>G (p.Val508Gly)
c.*803T>G (n.*803T>G)
c.1631T>G (p.Val544Gly)
c.953T>G (p.Val318Gly)
c.1538T>G (p.Val513Gly)
c.1407T>G (n.1407T>G)
c.215T>G (p.Val72Gly)
c.788T>G (p.Val263Gly)
c.1466T>G (p.Val489Gly)
c.1589T>G (p.Val530Gly)
c.863T>G (p.Val288Gly)
c.1469T>G (p.Val490Gly)
n.2423+2625A>C
n.1828T>G
10g.18539445A>CCA468629205CACNB2,NSUN6c.1560A>C (p.Val520=)
c.1425A>C (p.Val475=)
c.1548A>C (p.Val516=)
c.1620A>C (p.Val540=)
c.1704A>C (p.Val568=)
c.1542A>C (p.Val514=)
c.1329A>C (p.Val443=)
c.1506A>C (p.Val502=)
c.*845A>C (n.*845A>C)
c.1446A>C (p.Val482=)
c.*978A>C (n.*978A>C)
c.1261A>C (n.1261A>C)
c.*943A>C (n.*943A>C)
c.1524A>C (p.Val508=)
c.*804A>C (n.*804A>C)
c.1632A>C (p.Val544=)
c.954A>C (p.Val318=)
c.1539A>C (p.Val513=)
c.1408A>C (n.1408A>C)
c.216A>C (p.Val72=)
c.789A>C (p.Val263=)
c.1467A>C (p.Val489=)
c.1590A>C (p.Val530=)
c.864A>C (p.Val288=)
c.1470A>C (p.Val490=)
n.2423+2624T>G
n.1829A>C
10g.18539445A>GCA468629208CACNB2,NSUN6c.1560A>G (p.Val520=)
c.1425A>G (p.Val475=)
c.1548A>G (p.Val516=)
c.1620A>G (p.Val540=)
c.1704A>G (p.Val568=)
c.1542A>G (p.Val514=)
c.1329A>G (p.Val443=)
c.1506A>G (p.Val502=)
c.*845A>G (n.*845A>G)
c.1446A>G (p.Val482=)
c.*978A>G (n.*978A>G)
c.1261A>G (n.1261A>G)
c.*943A>G (n.*943A>G)
c.1524A>G (p.Val508=)
c.*804A>G (n.*804A>G)
c.1632A>G (p.Val544=)
c.954A>G (p.Val318=)
c.1539A>G (p.Val513=)
c.1408A>G (n.1408A>G)
c.216A>G (p.Val72=)
c.789A>G (p.Val263=)
c.1467A>G (p.Val489=)
c.1590A>G (p.Val530=)
c.864A>G (p.Val288=)
c.1470A>G (p.Val490=)
n.2423+2624T>C
n.1829A>G
10g.18539445A>TCA468629212CACNB2,NSUN6c.1560A>T (p.Val520=)
c.1425A>T (p.Val475=)
c.1548A>T (p.Val516=)
c.1620A>T (p.Val540=)
c.1704A>T (p.Val568=)
c.1542A>T (p.Val514=)
c.1329A>T (p.Val443=)
c.1506A>T (p.Val502=)
c.*845A>T (n.*845A>T)
c.1446A>T (p.Val482=)
c.*978A>T (n.*978A>T)
c.1261A>T (n.1261A>T)
c.*943A>T (n.*943A>T)
c.1524A>T (p.Val508=)
c.*804A>T (n.*804A>T)
c.1632A>T (p.Val544=)
c.954A>T (p.Val318=)
c.1539A>T (p.Val513=)
c.1408A>T (n.1408A>T)
c.216A>T (p.Val72=)
c.789A>T (p.Val263=)
c.1467A>T (p.Val489=)
c.1590A>T (p.Val530=)
c.864A>T (p.Val288=)
c.1470A>T (p.Val490=)
n.2423+2624T>A
n.1829A>T
10g.18539446G>ACA376071829CACNB2,NSUN6c.1561G>A (p.Glu521Lys)
c.1426G>A (p.Glu476Lys)
c.1549G>A (p.Glu517Lys)
c.1621G>A (p.Glu541Lys)
c.1705G>A (p.Glu569Lys)
c.1543G>A (p.Glu515Lys)
c.1330G>A (p.Glu444Lys)
c.1507G>A (p.Glu503Lys)
c.*846G>A (n.*846G>A)
c.1447G>A (p.Glu483Lys)
c.*979G>A (n.*979G>A)
c.1262G>A (n.1262G>A)
c.*944G>A (n.*944G>A)
c.1525G>A (p.Glu509Lys)
c.*805G>A (n.*805G>A)
c.1633G>A (p.Glu545Lys)
c.955G>A (p.Glu319Lys)
c.1540G>A (p.Glu514Lys)
c.1409G>A (n.1409G>A)
c.217G>A (p.Glu73Lys)
c.790G>A (p.Glu264Lys)
c.1468G>A (p.Glu490Lys)
c.1591G>A (p.Glu531Lys)
c.865G>A (p.Glu289Lys)
c.1471G>A (p.Glu491Lys)
n.2423+2623C>T
n.1830G>A
10g.18539446G>CCA376071831CACNB2,NSUN6c.1561G>C (p.Glu521Gln)
c.1426G>C (p.Glu476Gln)
c.1549G>C (p.Glu517Gln)
c.1621G>C (p.Glu541Gln)
c.1705G>C (p.Glu569Gln)
c.1543G>C (p.Glu515Gln)
c.1330G>C (p.Glu444Gln)
c.1507G>C (p.Glu503Gln)
c.*846G>C (n.*846G>C)
c.1447G>C (p.Glu483Gln)
c.*979G>C (n.*979G>C)
c.1262G>C (n.1262G>C)
c.*944G>C (n.*944G>C)
c.1525G>C (p.Glu509Gln)
c.*805G>C (n.*805G>C)
c.1633G>C (p.Glu545Gln)
c.955G>C (p.Glu319Gln)
c.1540G>C (p.Glu514Gln)
c.1409G>C (n.1409G>C)
c.217G>C (p.Glu73Gln)
c.790G>C (p.Glu264Gln)
c.1468G>C (p.Glu490Gln)
c.1591G>C (p.Glu531Gln)
c.865G>C (p.Glu289Gln)
c.1471G>C (p.Glu491Gln)
n.2423+2623C>G
n.1830G>C
10g.18539446G=CA1894173415CACNB2,NSUN6c.1561G= (p.Glu521=)
c.1426G= (p.Glu476=)
c.1549G= (p.Glu517=)
c.1621G= (p.Glu541=)
c.1705G= (p.Glu569=)
c.1543G= (p.Glu515=)
c.1330G= (p.Glu444=)
c.1507G= (p.Glu503=)
c.*846G= (n.*846G=)
c.1447G= (p.Glu483=)
c.*979G= (n.*979G=)
c.1262G= (n.1262G=)
c.*944G= (n.*944G=)
c.1525G= (p.Glu509=)
c.*805G= (n.*805G=)
c.1633G= (p.Glu545=)
c.955G= (p.Glu319=)
c.1540G= (p.Glu514=)
c.1409G= (n.1409G=)
c.217G= (p.Glu73=)
c.790G= (p.Glu264=)
c.1468G= (p.Glu490=)
c.1591G= (p.Glu531=)
c.865G= (p.Glu289=)
c.1471G= (p.Glu491=)
n.2423+2623C=
n.1830G=
10g.18539446G>TCA376071835CACNB2,NSUN6c.1561G>T (p.Glu521Ter)
c.1426G>T (p.Glu476Ter)
c.1549G>T (p.Glu517Ter)
c.1621G>T (p.Glu541Ter)
c.1705G>T (p.Glu569Ter)
c.1543G>T (p.Glu515Ter)
c.1330G>T (p.Glu444Ter)
c.1507G>T (p.Glu503Ter)
c.*846G>T (n.*846G>T)
c.1447G>T (p.Glu483Ter)
c.*979G>T (n.*979G>T)
c.1262G>T (n.1262G>T)
c.*944G>T (n.*944G>T)
c.1525G>T (p.Glu509Ter)
c.*805G>T (n.*805G>T)
c.1633G>T (p.Glu545Ter)
c.955G>T (p.Glu319Ter)
c.1540G>T (p.Glu514Ter)
c.1409G>T (n.1409G>T)
c.217G>T (p.Glu73Ter)
c.790G>T (p.Glu264Ter)
c.1468G>T (p.Glu490Ter)
c.1591G>T (p.Glu531Ter)
c.865G>T (p.Glu289Ter)
c.1471G>T (p.Glu491Ter)
n.2423+2623C>A
n.1830G>T
 dbSNP
10g.18539447A>CCA376071836CACNB2,NSUN6c.1562A>C (p.Glu521Ala)
c.1427A>C (p.Glu476Ala)
c.1550A>C (p.Glu517Ala)
c.1622A>C (p.Glu541Ala)
c.1706A>C (p.Glu569Ala)
c.1544A>C (p.Glu515Ala)
c.1331A>C (p.Glu444Ala)
c.1508A>C (p.Glu503Ala)
c.*847A>C (n.*847A>C)
c.1448A>C (p.Glu483Ala)
c.*980A>C (n.*980A>C)
c.1263A>C (n.1263A>C)
c.*945A>C (n.*945A>C)
c.1526A>C (p.Glu509Ala)
c.*806A>C (n.*806A>C)
c.1634A>C (p.Glu545Ala)
c.956A>C (p.Glu319Ala)
c.1541A>C (p.Glu514Ala)
c.1410A>C (n.1410A>C)
c.218A>C (p.Glu73Ala)
c.791A>C (p.Glu264Ala)
c.1469A>C (p.Glu490Ala)
c.1592A>C (p.Glu531Ala)
c.866A>C (p.Glu289Ala)
c.1472A>C (p.Glu491Ala)
n.2423+2622T>G
n.1831A>C
10g.18539447A>GCA376071838CACNB2,NSUN6c.1562A>G (p.Glu521Gly)
c.1427A>G (p.Glu476Gly)
c.1550A>G (p.Glu517Gly)
c.1622A>G (p.Glu541Gly)
c.1706A>G (p.Glu569Gly)
c.1544A>G (p.Glu515Gly)
c.1331A>G (p.Glu444Gly)
c.1508A>G (p.Glu503Gly)
c.*847A>G (n.*847A>G)
c.1448A>G (p.Glu483Gly)
c.*980A>G (n.*980A>G)
c.1263A>G (n.1263A>G)
c.*945A>G (n.*945A>G)
c.1526A>G (p.Glu509Gly)
c.*806A>G (n.*806A>G)
c.1634A>G (p.Glu545Gly)
c.956A>G (p.Glu319Gly)
c.1541A>G (p.Glu514Gly)
c.1410A>G (n.1410A>G)
c.218A>G (p.Glu73Gly)
c.791A>G (p.Glu264Gly)
c.1469A>G (p.Glu490Gly)
c.1592A>G (p.Glu531Gly)
c.866A>G (p.Glu289Gly)
c.1472A>G (p.Glu491Gly)
n.2423+2622T>C
n.1831A>G
10g.18539447A>TCA376071839CACNB2,NSUN6c.1562A>T (p.Glu521Val)
c.1427A>T (p.Glu476Val)
c.1550A>T (p.Glu517Val)
c.1622A>T (p.Glu541Val)
c.1706A>T (p.Glu569Val)
c.1544A>T (p.Glu515Val)
c.1331A>T (p.Glu444Val)
c.1508A>T (p.Glu503Val)
c.*847A>T (n.*847A>T)
c.1448A>T (p.Glu483Val)
c.*980A>T (n.*980A>T)
c.1263A>T (n.1263A>T)
c.*945A>T (n.*945A>T)
c.1526A>T (p.Glu509Val)
c.*806A>T (n.*806A>T)
c.1634A>T (p.Glu545Val)
c.956A>T (p.Glu319Val)
c.1541A>T (p.Glu514Val)
c.1410A>T (n.1410A>T)
c.218A>T (p.Glu73Val)
c.791A>T (p.Glu264Val)
c.1469A>T (p.Glu490Val)
c.1592A>T (p.Glu531Val)
c.866A>T (p.Glu289Val)
c.1472A>T (p.Glu491Val)
n.2423+2622T>A
n.1831A>T
10g.18539448G>ACA468629228CACNB2,NSUN6c.1563G>A (p.Glu521=)
c.1428G>A (p.Glu476=)
c.1551G>A (p.Glu517=)
c.1623G>A (p.Glu541=)
c.1707G>A (p.Glu569=)
c.1545G>A (p.Glu515=)
c.1332G>A (p.Glu444=)
c.1509G>A (p.Glu503=)
c.*848G>A (n.*848G>A)
c.1449G>A (p.Glu483=)
c.*981G>A (n.*981G>A)
c.1264G>A (n.1264G>A)
c.*946G>A (n.*946G>A)
c.1527G>A (p.Glu509=)
c.*807G>A (n.*807G>A)
c.1635G>A (p.Glu545=)
c.957G>A (p.Glu319=)
c.1542G>A (p.Glu514=)
c.1411G>A (n.1411G>A)
c.219G>A (p.Glu73=)
c.792G>A (p.Glu264=)
c.1470G>A (p.Glu490=)
c.1593G>A (p.Glu531=)
c.867G>A (p.Glu289=)
c.1473G>A (p.Glu491=)
n.2423+2621C>T
n.1832G>A
10g.18539448G>CCA376071844CACNB2,NSUN6c.1563G>C (p.Glu521Asp)
c.1428G>C (p.Glu476Asp)
c.1551G>C (p.Glu517Asp)
c.1623G>C (p.Glu541Asp)
c.1707G>C (p.Glu569Asp)
c.1545G>C (p.Glu515Asp)
c.1332G>C (p.Glu444Asp)
c.1509G>C (p.Glu503Asp)
c.*848G>C (n.*848G>C)
c.1449G>C (p.Glu483Asp)
c.*981G>C (n.*981G>C)
c.1264G>C (n.1264G>C)
c.*946G>C (n.*946G>C)
c.1527G>C (p.Glu509Asp)
c.*807G>C (n.*807G>C)
c.1635G>C (p.Glu545Asp)
c.957G>C (p.Glu319Asp)
c.1542G>C (p.Glu514Asp)
c.1411G>C (n.1411G>C)
c.219G>C (p.Glu73Asp)
c.792G>C (p.Glu264Asp)
c.1470G>C (p.Glu490Asp)
c.1593G>C (p.Glu531Asp)
c.867G>C (p.Glu289Asp)
c.1473G>C (p.Glu491Asp)
n.2423+2621C>G
n.1832G>C
10g.18539448G>TCA376071841CACNB2,NSUN6c.1563G>T (p.Glu521Asp)
c.1428G>T (p.Glu476Asp)
c.1551G>T (p.Glu517Asp)
c.1623G>T (p.Glu541Asp)
c.1707G>T (p.Glu569Asp)
c.1545G>T (p.Glu515Asp)
c.1332G>T (p.Glu444Asp)
c.1509G>T (p.Glu503Asp)
c.*848G>T (n.*848G>T)
c.1449G>T (p.Glu483Asp)
c.*981G>T (n.*981G>T)
c.1264G>T (n.1264G>T)
c.*946G>T (n.*946G>T)
c.1527G>T (p.Glu509Asp)
c.*807G>T (n.*807G>T)
c.1635G>T (p.Glu545Asp)
c.957G>T (p.Glu319Asp)
c.1542G>T (p.Glu514Asp)
c.1411G>T (n.1411G>T)
c.219G>T (p.Glu73Asp)
c.792G>T (p.Glu264Asp)
c.1470G>T (p.Glu490Asp)
c.1593G>T (p.Glu531Asp)
c.867G>T (p.Glu289Asp)
c.1473G>T (p.Glu491Asp)
n.2423+2621C>A
n.1832G>T
10g.18539449C>ACA376071846CACNB2,NSUN6c.1564C>A (p.Pro522Thr)
c.1429C>A (p.Pro477Thr)
c.1552C>A (p.Pro518Thr)
c.1624C>A (p.Pro542Thr)
c.1708C>A (p.Pro570Thr)
c.1546C>A (p.Pro516Thr)
c.1333C>A (p.Pro445Thr)
c.1510C>A (p.Pro504Thr)
c.*849C>A (n.*849C>A)
c.1450C>A (p.Pro484Thr)
c.*982C>A (n.*982C>A)
c.1265C>A (n.1265C>A)
c.*947C>A (n.*947C>A)
c.1528C>A (p.Pro510Thr)
c.*808C>A (n.*808C>A)
c.1636C>A (p.Pro546Thr)
c.958C>A (p.Pro320Thr)
c.1543C>A (p.Pro515Thr)
c.1412C>A (n.1412C>A)
c.220C>A (p.Pro74Thr)
c.793C>A (p.Pro265Thr)
c.1471C>A (p.Pro491Thr)
c.1594C>A (p.Pro532Thr)
c.868C>A (p.Pro290Thr)
c.1474C>A (p.Pro492Thr)
n.2423+2620G>T
n.1833C>A
10g.18539449C=CA1894173419CACNB2,NSUN6c.1564C= (p.Pro522=)
c.1429C= (p.Pro477=)
c.1552C= (p.Pro518=)
c.1624C= (p.Pro542=)
c.1708C= (p.Pro570=)
c.1546C= (p.Pro516=)
c.1333C= (p.Pro445=)
c.1510C= (p.Pro504=)
c.*849C= (n.*849C=)
c.1450C= (p.Pro484=)
c.*982C= (n.*982C=)
c.1265C= (n.1265C=)
c.*947C= (n.*947C=)
c.1528C= (p.Pro510=)
c.*808C= (n.*808C=)
c.1636C= (p.Pro546=)
c.958C= (p.Pro320=)
c.1543C= (p.Pro515=)
c.1412C= (n.1412C=)
c.220C= (p.Pro74=)
c.793C= (p.Pro265=)
c.1471C= (p.Pro491=)
c.1594C= (p.Pro532=)
c.868C= (p.Pro290=)
c.1474C= (p.Pro492=)
n.2423+2620G=
n.1833C=
10g.18539449C>GCA5430137CACNB2,NSUN6c.1564C>G (p.Pro522Ala)
c.1429C>G (p.Pro477Ala)
c.1552C>G (p.Pro518Ala)
c.1624C>G (p.Pro542Ala)
c.1708C>G (p.Pro570Ala)
c.1546C>G (p.Pro516Ala)
c.1333C>G (p.Pro445Ala)
c.1510C>G (p.Pro504Ala)
c.*849C>G (n.*849C>G)
c.1450C>G (p.Pro484Ala)
c.*982C>G (n.*982C>G)
c.1265C>G (n.1265C>G)
c.*947C>G (n.*947C>G)
c.1528C>G (p.Pro510Ala)
c.*808C>G (n.*808C>G)
c.1636C>G (p.Pro546Ala)
c.958C>G (p.Pro320Ala)
c.1543C>G (p.Pro515Ala)
c.1412C>G (n.1412C>G)
c.220C>G (p.Pro74Ala)
c.793C>G (p.Pro265Ala)
c.1471C>G (p.Pro491Ala)
c.1594C>G (p.Pro532Ala)
c.868C>G (p.Pro290Ala)
c.1474C>G (p.Pro492Ala)
n.2423+2620G>C
n.1833C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539449C>TCA376071850CACNB2,NSUN6c.1564C>T (p.Pro522Ser)
c.1429C>T (p.Pro477Ser)
c.1552C>T (p.Pro518Ser)
c.1624C>T (p.Pro542Ser)
c.1708C>T (p.Pro570Ser)
c.1546C>T (p.Pro516Ser)
c.1333C>T (p.Pro445Ser)
c.1510C>T (p.Pro504Ser)
c.*849C>T (n.*849C>T)
c.1450C>T (p.Pro484Ser)
c.*982C>T (n.*982C>T)
c.1265C>T (n.1265C>T)
c.*947C>T (n.*947C>T)
c.1528C>T (p.Pro510Ser)
c.*808C>T (n.*808C>T)
c.1636C>T (p.Pro546Ser)
c.958C>T (p.Pro320Ser)
c.1543C>T (p.Pro515Ser)
c.1412C>T (n.1412C>T)
c.220C>T (p.Pro74Ser)
c.793C>T (p.Pro265Ser)
c.1471C>T (p.Pro491Ser)
c.1594C>T (p.Pro532Ser)
c.868C>T (p.Pro290Ser)
c.1474C>T (p.Pro492Ser)
n.2423+2620G>A
n.1833C>T
10g.18539450C>ACA376071851CACNB2,NSUN6c.1565C>A (p.Pro522Gln)
c.1430C>A (p.Pro477Gln)
c.1553C>A (p.Pro518Gln)
c.1625C>A (p.Pro542Gln)
c.1709C>A (p.Pro570Gln)
c.1547C>A (p.Pro516Gln)
c.1334C>A (p.Pro445Gln)
c.1511C>A (p.Pro504Gln)
c.*850C>A (n.*850C>A)
c.1451C>A (p.Pro484Gln)
c.*983C>A (n.*983C>A)
c.1266C>A (n.1266C>A)
c.*948C>A (n.*948C>A)
c.1529C>A (p.Pro510Gln)
c.*809C>A (n.*809C>A)
c.1637C>A (p.Pro546Gln)
c.959C>A (p.Pro320Gln)
c.1544C>A (p.Pro515Gln)
c.1413C>A (n.1413C>A)
c.221C>A (p.Pro74Gln)
c.794C>A (p.Pro265Gln)
c.1472C>A (p.Pro491Gln)
c.1595C>A (p.Pro532Gln)
c.869C>A (p.Pro290Gln)
c.1475C>A (p.Pro492Gln)
n.2423+2619G>T
n.1834C>A
10g.18539450C>GCA376071854CACNB2,NSUN6c.1565C>G (p.Pro522Arg)
c.1430C>G (p.Pro477Arg)
c.1553C>G (p.Pro518Arg)
c.1625C>G (p.Pro542Arg)
c.1709C>G (p.Pro570Arg)
c.1547C>G (p.Pro516Arg)
c.1334C>G (p.Pro445Arg)
c.1511C>G (p.Pro504Arg)
c.*850C>G (n.*850C>G)
c.1451C>G (p.Pro484Arg)
c.*983C>G (n.*983C>G)
c.1266C>G (n.1266C>G)
c.*948C>G (n.*948C>G)
c.1529C>G (p.Pro510Arg)
c.*809C>G (n.*809C>G)
c.1637C>G (p.Pro546Arg)
c.959C>G (p.Pro320Arg)
c.1544C>G (p.Pro515Arg)
c.1413C>G (n.1413C>G)
c.221C>G (p.Pro74Arg)
c.794C>G (p.Pro265Arg)
c.1472C>G (p.Pro491Arg)
c.1595C>G (p.Pro532Arg)
c.869C>G (p.Pro290Arg)
c.1475C>G (p.Pro492Arg)
n.2423+2619G>C
n.1834C>G
10g.18539450C>TCA376071856CACNB2,NSUN6c.1565C>T (p.Pro522Leu)
c.1430C>T (p.Pro477Leu)
c.1553C>T (p.Pro518Leu)
c.1625C>T (p.Pro542Leu)
c.1709C>T (p.Pro570Leu)
c.1547C>T (p.Pro516Leu)
c.1334C>T (p.Pro445Leu)
c.1511C>T (p.Pro504Leu)
c.*850C>T (n.*850C>T)
c.1451C>T (p.Pro484Leu)
c.*983C>T (n.*983C>T)
c.1266C>T (n.1266C>T)
c.*948C>T (n.*948C>T)
c.1529C>T (p.Pro510Leu)
c.*809C>T (n.*809C>T)
c.1637C>T (p.Pro546Leu)
c.959C>T (p.Pro320Leu)
c.1544C>T (p.Pro515Leu)
c.1413C>T (n.1413C>T)
c.221C>T (p.Pro74Leu)
c.794C>T (p.Pro265Leu)
c.1472C>T (p.Pro491Leu)
c.1595C>T (p.Pro532Leu)
c.869C>T (p.Pro290Leu)
c.1475C>T (p.Pro492Leu)
n.2423+2619G>A
n.1834C>T
10g.18539451A=CA1894173423CACNB2,NSUN6c.1566A= (p.Pro522=)
c.1431A= (p.Pro477=)
c.1554A= (p.Pro518=)
c.1626A= (p.Pro542=)
c.1710A= (p.Pro570=)
c.1548A= (p.Pro516=)
c.1335A= (p.Pro445=)
c.1512A= (p.Pro504=)
c.*851A= (n.*851A=)
c.1452A= (p.Pro484=)
c.*984A= (n.*984A=)
c.1267A= (n.1267A=)
c.*949A= (n.*949A=)
c.1530A= (p.Pro510=)
c.*810A= (n.*810A=)
c.1638A= (p.Pro546=)
c.960A= (p.Pro320=)
c.1545A= (p.Pro515=)
c.1414A= (n.1414A=)
c.222A= (p.Pro74=)
c.795A= (p.Pro265=)
c.1473A= (p.Pro491=)
c.1596A= (p.Pro532=)
c.870A= (p.Pro290=)
c.1476A= (p.Pro492=)
n.2423+2618T=
n.1835A=
10g.18539451A>CCA468629263CACNB2,NSUN6c.1566A>C (p.Pro522=)
c.1431A>C (p.Pro477=)
c.1554A>C (p.Pro518=)
c.1626A>C (p.Pro542=)
c.1710A>C (p.Pro570=)
c.1548A>C (p.Pro516=)
c.1335A>C (p.Pro445=)
c.1512A>C (p.Pro504=)
c.*851A>C (n.*851A>C)
c.1452A>C (p.Pro484=)
c.*984A>C (n.*984A>C)
c.1267A>C (n.1267A>C)
c.*949A>C (n.*949A>C)
c.1530A>C (p.Pro510=)
c.*810A>C (n.*810A>C)
c.1638A>C (p.Pro546=)
c.960A>C (p.Pro320=)
c.1545A>C (p.Pro515=)
c.1414A>C (n.1414A>C)
c.222A>C (p.Pro74=)
c.795A>C (p.Pro265=)
c.1473A>C (p.Pro491=)
c.1596A>C (p.Pro532=)
c.870A>C (p.Pro290=)
c.1476A>C (p.Pro492=)
n.2423+2618T>G
n.1835A>C
10g.18539451A>GCA5430138CACNB2,NSUN6c.1566A>G (p.Pro522=)
c.1431A>G (p.Pro477=)
c.1554A>G (p.Pro518=)
c.1626A>G (p.Pro542=)
c.1710A>G (p.Pro570=)
c.1548A>G (p.Pro516=)
c.1335A>G (p.Pro445=)
c.1512A>G (p.Pro504=)
c.*851A>G (n.*851A>G)
c.1452A>G (p.Pro484=)
c.*984A>G (n.*984A>G)
c.1267A>G (n.1267A>G)
c.*949A>G (n.*949A>G)
c.1530A>G (p.Pro510=)
c.*810A>G (n.*810A>G)
c.1638A>G (p.Pro546=)
c.960A>G (p.Pro320=)
c.1545A>G (p.Pro515=)
c.1414A>G (n.1414A>G)
c.222A>G (p.Pro74=)
c.795A>G (p.Pro265=)
c.1473A>G (p.Pro491=)
c.1596A>G (p.Pro532=)
c.870A>G (p.Pro290=)
c.1476A>G (p.Pro492=)
n.2423+2618T>C
n.1835A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539451A>TCA468629268CACNB2,NSUN6c.1566A>T (p.Pro522=)
c.1431A>T (p.Pro477=)
c.1554A>T (p.Pro518=)
c.1626A>T (p.Pro542=)
c.1710A>T (p.Pro570=)
c.1548A>T (p.Pro516=)
c.1335A>T (p.Pro445=)
c.1512A>T (p.Pro504=)
c.*851A>T (n.*851A>T)
c.1452A>T (p.Pro484=)
c.*984A>T (n.*984A>T)
c.1267A>T (n.1267A>T)
c.*949A>T (n.*949A>T)
c.1530A>T (p.Pro510=)
c.*810A>T (n.*810A>T)
c.1638A>T (p.Pro546=)
c.960A>T (p.Pro320=)
c.1545A>T (p.Pro515=)
c.1414A>T (n.1414A>T)
c.222A>T (p.Pro74=)
c.795A>T (p.Pro265=)
c.1473A>T (p.Pro491=)
c.1596A>T (p.Pro532=)
c.870A>T (p.Pro290=)
c.1476A>T (p.Pro492=)
n.2423+2618T>A
n.1835A>T
10g.18539452_18539459delCA2574454616CACNB2,NSUN6c.1567_1574del (p.Lys523LeufsTer4)
c.1432_1439del (p.Lys478LeufsTer4)
c.1555_1562del (p.Lys519LeufsTer4)
c.1627_1634del (p.Lys543LeufsTer4)
c.1711_1718del (p.Lys571LeufsTer4)
c.1549_1556del (p.Lys517LeufsTer4)
c.1336_1343del (p.Lys446LeufsTer4)
c.1513_1520del (p.Lys505LeufsTer4)
c.*852_*859del (n.*852_*859del)
c.1453_1460del (p.Lys485LeufsTer4)
c.*985_*992del (n.*985_*992del)
c.1268_1275del (n.1268_1275del)
c.*950_*957del (n.*950_*957del)
c.1531_1538del (p.Lys511LeufsTer4)
c.*811_*818del (n.*811_*818del)
c.1639_1646del (p.Lys547LeufsTer4)
c.961_968del (p.Lys321LeufsTer4)
c.1546_1553del (p.Lys516LeufsTer4)
c.1415_1422del (n.1415_1422del)
c.223_230del (p.Lys75LeufsTer4)
c.796_803del (p.Lys266LeufsTer4)
c.1474_1481del (p.Lys492LeufsTer4)
c.1597_1604del (p.Lys533LeufsTer4)
c.871_878del (p.Lys291LeufsTer4)
c.1477_1484del (p.Lys493LeufsTer4)
n.2423+2611_2423+2618del
n.1836_1843del
10g.18539452A=CA1894173427CACNB2,NSUN6c.1567A= (p.Lys523=)
c.1432A= (p.Lys478=)
c.1555A= (p.Lys519=)
c.1627A= (p.Lys543=)
c.1711A= (p.Lys571=)
c.1549A= (p.Lys517=)
c.1336A= (p.Lys446=)
c.1513A= (p.Lys505=)
c.*852A= (n.*852A=)
c.1453A= (p.Lys485=)
c.*985A= (n.*985A=)
c.1268A= (n.1268A=)
c.*950A= (n.*950A=)
c.1531A= (p.Lys511=)
c.*811A= (n.*811A=)
c.1639A= (p.Lys547=)
c.961A= (p.Lys321=)
c.1546A= (p.Lys516=)
c.1415A= (n.1415A=)
c.223A= (p.Lys75=)
c.796A= (p.Lys266=)
c.1474A= (p.Lys492=)
c.1597A= (p.Lys533=)
c.871A= (p.Lys291=)
c.1477A= (p.Lys493=)
n.2423+2617T=
n.1836A=
10g.18539452A>CCA376071860CACNB2,NSUN6c.1567A>C (p.Lys523Gln)
c.1432A>C (p.Lys478Gln)
c.1555A>C (p.Lys519Gln)
c.1627A>C (p.Lys543Gln)
c.1711A>C (p.Lys571Gln)
c.1549A>C (p.Lys517Gln)
c.1336A>C (p.Lys446Gln)
c.1513A>C (p.Lys505Gln)
c.*852A>C (n.*852A>C)
c.1453A>C (p.Lys485Gln)
c.*985A>C (n.*985A>C)
c.1268A>C (n.1268A>C)
c.*950A>C (n.*950A>C)
c.1531A>C (p.Lys511Gln)
c.*811A>C (n.*811A>C)
c.1639A>C (p.Lys547Gln)
c.961A>C (p.Lys321Gln)
c.1546A>C (p.Lys516Gln)
c.1415A>C (n.1415A>C)
c.223A>C (p.Lys75Gln)
c.796A>C (p.Lys266Gln)
c.1474A>C (p.Lys492Gln)
c.1597A>C (p.Lys533Gln)
c.871A>C (p.Lys291Gln)
c.1477A>C (p.Lys493Gln)
n.2423+2617T>G
n.1836A>C
10g.18539452A>GCA376071861CACNB2,NSUN6c.1567A>G (p.Lys523Glu)
c.1432A>G (p.Lys478Glu)
c.1555A>G (p.Lys519Glu)
c.1627A>G (p.Lys543Glu)
c.1711A>G (p.Lys571Glu)
c.1549A>G (p.Lys517Glu)
c.1336A>G (p.Lys446Glu)
c.1513A>G (p.Lys505Glu)
c.*852A>G (n.*852A>G)
c.1453A>G (p.Lys485Glu)
c.*985A>G (n.*985A>G)
c.1268A>G (n.1268A>G)
c.*950A>G (n.*950A>G)
c.1531A>G (p.Lys511Glu)
c.*811A>G (n.*811A>G)
c.1639A>G (p.Lys547Glu)
c.961A>G (p.Lys321Glu)
c.1546A>G (p.Lys516Glu)
c.1415A>G (n.1415A>G)
c.223A>G (p.Lys75Glu)
c.796A>G (p.Lys266Glu)
c.1474A>G (p.Lys492Glu)
c.1597A>G (p.Lys533Glu)
c.871A>G (p.Lys291Glu)
c.1477A>G (p.Lys493Glu)
n.2423+2617T>C
n.1836A>G
 gnomAD v4
10g.18539452A>TCA376071864CACNB2,NSUN6c.1567A>T (p.Lys523Ter)
c.1432A>T (p.Lys478Ter)
c.1555A>T (p.Lys519Ter)
c.1627A>T (p.Lys543Ter)
c.1711A>T (p.Lys571Ter)
c.1549A>T (p.Lys517Ter)
c.1336A>T (p.Lys446Ter)
c.1513A>T (p.Lys505Ter)
c.*852A>T (n.*852A>T)
c.1453A>T (p.Lys485Ter)
c.*985A>T (n.*985A>T)
c.1268A>T (n.1268A>T)
c.*950A>T (n.*950A>T)
c.1531A>T (p.Lys511Ter)
c.*811A>T (n.*811A>T)
c.1639A>T (p.Lys547Ter)
c.961A>T (p.Lys321Ter)
c.1546A>T (p.Lys516Ter)
c.1415A>T (n.1415A>T)
c.223A>T (p.Lys75Ter)
c.796A>T (p.Lys266Ter)
c.1474A>T (p.Lys492Ter)
c.1597A>T (p.Lys533Ter)
c.871A>T (p.Lys291Ter)
c.1477A>T (p.Lys493Ter)
n.2423+2617T>A
n.1836A>T
 dbSNP
10g.18539453A>CCA376071866CACNB2,NSUN6c.1568A>C (p.Lys523Thr)
c.1433A>C (p.Lys478Thr)
c.1556A>C (p.Lys519Thr)
c.1628A>C (p.Lys543Thr)
c.1712A>C (p.Lys571Thr)
c.1550A>C (p.Lys517Thr)
c.1337A>C (p.Lys446Thr)
c.1514A>C (p.Lys505Thr)
c.*853A>C (n.*853A>C)
c.1454A>C (p.Lys485Thr)
c.*986A>C (n.*986A>C)
c.1269A>C (n.1269A>C)
c.*951A>C (n.*951A>C)
c.1532A>C (p.Lys511Thr)
c.*812A>C (n.*812A>C)
c.1640A>C (p.Lys547Thr)
c.962A>C (p.Lys321Thr)
c.1547A>C (p.Lys516Thr)
c.1416A>C (n.1416A>C)
c.224A>C (p.Lys75Thr)
c.797A>C (p.Lys266Thr)
c.1475A>C (p.Lys492Thr)
c.1598A>C (p.Lys533Thr)
c.872A>C (p.Lys291Thr)
c.1478A>C (p.Lys493Thr)
n.2423+2616T>G
n.1837A>C
10g.18539453A>GCA376071868CACNB2,NSUN6c.1568A>G (p.Lys523Arg)
c.1433A>G (p.Lys478Arg)
c.1556A>G (p.Lys519Arg)
c.1628A>G (p.Lys543Arg)
c.1712A>G (p.Lys571Arg)
c.1550A>G (p.Lys517Arg)
c.1337A>G (p.Lys446Arg)
c.1514A>G (p.Lys505Arg)
c.*853A>G (n.*853A>G)
c.1454A>G (p.Lys485Arg)
c.*986A>G (n.*986A>G)
c.1269A>G (n.1269A>G)
c.*951A>G (n.*951A>G)
c.1532A>G (p.Lys511Arg)
c.*812A>G (n.*812A>G)
c.1640A>G (p.Lys547Arg)
c.962A>G (p.Lys321Arg)
c.1547A>G (p.Lys516Arg)
c.1416A>G (n.1416A>G)
c.224A>G (p.Lys75Arg)
c.797A>G (p.Lys266Arg)
c.1475A>G (p.Lys492Arg)
c.1598A>G (p.Lys533Arg)
c.872A>G (p.Lys291Arg)
c.1478A>G (p.Lys493Arg)
n.2423+2616T>C
n.1837A>G
10g.18539453A>TCA376071869CACNB2,NSUN6c.1568A>T (p.Lys523Met)
c.1433A>T (p.Lys478Met)
c.1556A>T (p.Lys519Met)
c.1628A>T (p.Lys543Met)
c.1712A>T (p.Lys571Met)
c.1550A>T (p.Lys517Met)
c.1337A>T (p.Lys446Met)
c.1514A>T (p.Lys505Met)
c.*853A>T (n.*853A>T)
c.1454A>T (p.Lys485Met)
c.*986A>T (n.*986A>T)
c.1269A>T (n.1269A>T)
c.*951A>T (n.*951A>T)
c.1532A>T (p.Lys511Met)
c.*812A>T (n.*812A>T)
c.1640A>T (p.Lys547Met)
c.962A>T (p.Lys321Met)
c.1547A>T (p.Lys516Met)
c.1416A>T (n.1416A>T)
c.224A>T (p.Lys75Met)
c.797A>T (p.Lys266Met)
c.1475A>T (p.Lys492Met)
c.1598A>T (p.Lys533Met)
c.872A>T (p.Lys291Met)
c.1478A>T (p.Lys493Met)
n.2423+2616T>A
n.1837A>T
10g.18539454G>ACA5430139CACNB2,NSUN6c.1569G>A (p.Lys523=)
c.1434G>A (p.Lys478=)
c.1557G>A (p.Lys519=)
c.1629G>A (p.Lys543=)
c.1713G>A (p.Lys571=)
c.1551G>A (p.Lys517=)
c.1338G>A (p.Lys446=)
c.1515G>A (p.Lys505=)
c.*854G>A (n.*854G>A)
c.1455G>A (p.Lys485=)
c.*987G>A (n.*987G>A)
c.1270G>A (n.1270G>A)
c.*952G>A (n.*952G>A)
c.1533G>A (p.Lys511=)
c.*813G>A (n.*813G>A)
c.1641G>A (p.Lys547=)
c.963G>A (p.Lys321=)
c.1548G>A (p.Lys516=)
c.1417G>A (n.1417G>A)
c.225G>A (p.Lys75=)
c.798G>A (p.Lys266=)
c.1476G>A (p.Lys492=)
c.1599G>A (p.Lys533=)
c.873G>A (p.Lys291=)
c.1479G>A (p.Lys493=)
n.2423+2615C>T
n.1838G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539454G>CCA376071871CACNB2,NSUN6c.1569G>C (p.Lys523Asn)
c.1434G>C (p.Lys478Asn)
c.1557G>C (p.Lys519Asn)
c.1629G>C (p.Lys543Asn)
c.1713G>C (p.Lys571Asn)
c.1551G>C (p.Lys517Asn)
c.1338G>C (p.Lys446Asn)
c.1515G>C (p.Lys505Asn)
c.*854G>C (n.*854G>C)
c.1455G>C (p.Lys485Asn)
c.*987G>C (n.*987G>C)
c.1270G>C (n.1270G>C)
c.*952G>C (n.*952G>C)
c.1533G>C (p.Lys511Asn)
c.*813G>C (n.*813G>C)
c.1641G>C (p.Lys547Asn)
c.963G>C (p.Lys321Asn)
c.1548G>C (p.Lys516Asn)
c.1417G>C (n.1417G>C)
c.225G>C (p.Lys75Asn)
c.798G>C (p.Lys266Asn)
c.1476G>C (p.Lys492Asn)
c.1599G>C (p.Lys533Asn)
c.873G>C (p.Lys291Asn)
c.1479G>C (p.Lys493Asn)
n.2423+2615C>G
n.1838G>C
10g.18539454G=CA1894173430CACNB2,NSUN6c.1569G= (p.Lys523=)
c.1434G= (p.Lys478=)
c.1557G= (p.Lys519=)
c.1629G= (p.Lys543=)
c.1713G= (p.Lys571=)
c.1551G= (p.Lys517=)
c.1338G= (p.Lys446=)
c.1515G= (p.Lys505=)
c.*854G= (n.*854G=)
c.1455G= (p.Lys485=)
c.*987G= (n.*987G=)
c.1270G= (n.1270G=)
c.*952G= (n.*952G=)
c.1533G= (p.Lys511=)
c.*813G= (n.*813G=)
c.1641G= (p.Lys547=)
c.963G= (p.Lys321=)
c.1548G= (p.Lys516=)
c.1417G= (n.1417G=)
c.225G= (p.Lys75=)
c.798G= (p.Lys266=)
c.1476G= (p.Lys492=)
c.1599G= (p.Lys533=)
c.873G= (p.Lys291=)
c.1479G= (p.Lys493=)
n.2423+2615C=
n.1838G=
10g.18539454G>TCA376071872CACNB2,NSUN6c.1569G>T (p.Lys523Asn)
c.1434G>T (p.Lys478Asn)
c.1557G>T (p.Lys519Asn)
c.1629G>T (p.Lys543Asn)
c.1713G>T (p.Lys571Asn)
c.1551G>T (p.Lys517Asn)
c.1338G>T (p.Lys446Asn)
c.1515G>T (p.Lys505Asn)
c.*854G>T (n.*854G>T)
c.1455G>T (p.Lys485Asn)
c.*987G>T (n.*987G>T)
c.1270G>T (n.1270G>T)
c.*952G>T (n.*952G>T)
c.1533G>T (p.Lys511Asn)
c.*813G>T (n.*813G>T)
c.1641G>T (p.Lys547Asn)
c.963G>T (p.Lys321Asn)
c.1548G>T (p.Lys516Asn)
c.1417G>T (n.1417G>T)
c.225G>T (p.Lys75Asn)
c.798G>T (p.Lys266Asn)
c.1476G>T (p.Lys492Asn)
c.1599G>T (p.Lys533Asn)
c.873G>T (p.Lys291Asn)
c.1479G>T (p.Lys493Asn)
n.2423+2615C>A
n.1838G>T
10g.18539455_18539470dupCA2516700457CACNB2,NSUN6c.1570_1585dup (p.Asp529GlyfsTer6)
c.1435_1450dup (p.Asp484GlyfsTer6)
c.1558_1573dup (p.Asp525GlyfsTer6)
c.1630_1645dup (p.Asp549GlyfsTer6)
c.1714_1729dup (p.Asp577GlyfsTer6)
c.1552_1567dup (p.Asp523GlyfsTer6)
c.1339_1354dup (p.Asp452GlyfsTer6)
c.1516_1531dup (p.Asp511GlyfsTer6)
c.*855_*870dup (n.*855_*870dup)
c.1456_1471dup (p.Asp491GlyfsTer6)
c.*988_*1003dup (n.*988_*1003dup)
c.1271_1286dup (n.1271_1286dup)
c.*953_*968dup (n.*953_*968dup)
c.1534_1549dup (p.Asp517GlyfsTer6)
c.*814_*829dup (n.*814_*829dup)
c.1642_1657dup (p.Asp553GlyfsTer6)
c.964_979dup (p.Asp327GlyfsTer6)
c.1549_1564dup (p.Asp522GlyfsTer6)
c.1418_1433dup (n.1418_1433dup)
c.226_241dup (p.Asp81GlyfsTer6)
c.799_814dup (p.Asp272GlyfsTer6)
c.1477_1492dup (p.Asp498GlyfsTer6)
c.1600_1615dup (p.Asp539GlyfsTer6)
c.874_889dup (p.Asp297GlyfsTer6)
c.1480_1495dup (p.Asp499GlyfsTer6)
n.2423+2600_2423+2615dup
n.1839_1854dup
 gnomAD v4
10g.18539455G>ACA5430140CACNB2,NSUN6c.1570G>A (p.Glu524Lys)
c.1435G>A (p.Glu479Lys)
c.1558G>A (p.Glu520Lys)
c.1630G>A (p.Glu544Lys)
c.1714G>A (p.Glu572Lys)
c.1552G>A (p.Glu518Lys)
c.1339G>A (p.Glu447Lys)
c.1516G>A (p.Glu506Lys)
c.*855G>A (n.*855G>A)
c.1456G>A (p.Glu486Lys)
c.*988G>A (n.*988G>A)
c.1271G>A (n.1271G>A)
c.*953G>A (n.*953G>A)
c.1534G>A (p.Glu512Lys)
c.*814G>A (n.*814G>A)
c.1642G>A (p.Glu548Lys)
c.964G>A (p.Glu322Lys)
c.1549G>A (p.Glu517Lys)
c.1418G>A (n.1418G>A)
c.226G>A (p.Glu76Lys)
c.799G>A (p.Glu267Lys)
c.1477G>A (p.Glu493Lys)
c.1600G>A (p.Glu534Lys)
c.874G>A (p.Glu292Lys)
c.1480G>A (p.Glu494Lys)
n.2423+2614C>T
n.1839G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539455G>CCA376071873CACNB2,NSUN6c.1570G>C (p.Glu524Gln)
c.1435G>C (p.Glu479Gln)
c.1558G>C (p.Glu520Gln)
c.1630G>C (p.Glu544Gln)
c.1714G>C (p.Glu572Gln)
c.1552G>C (p.Glu518Gln)
c.1339G>C (p.Glu447Gln)
c.1516G>C (p.Glu506Gln)
c.*855G>C (n.*855G>C)
c.1456G>C (p.Glu486Gln)
c.*988G>C (n.*988G>C)
c.1271G>C (n.1271G>C)
c.*953G>C (n.*953G>C)
c.1534G>C (p.Glu512Gln)
c.*814G>C (n.*814G>C)
c.1642G>C (p.Glu548Gln)
c.964G>C (p.Glu322Gln)
c.1549G>C (p.Glu517Gln)
c.1418G>C (n.1418G>C)
c.226G>C (p.Glu76Gln)
c.799G>C (p.Glu267Gln)
c.1477G>C (p.Glu493Gln)
c.1600G>C (p.Glu534Gln)
c.874G>C (p.Glu292Gln)
c.1480G>C (p.Glu494Gln)
n.2423+2614C>G
n.1839G>C
10g.18539455G=CA1894173436CACNB2,NSUN6c.1570G= (p.Glu524=)
c.1435G= (p.Glu479=)
c.1558G= (p.Glu520=)
c.1630G= (p.Glu544=)
c.1714G= (p.Glu572=)
c.1552G= (p.Glu518=)
c.1339G= (p.Glu447=)
c.1516G= (p.Glu506=)
c.*855G= (n.*855G=)
c.1456G= (p.Glu486=)
c.*988G= (n.*988G=)
c.1271G= (n.1271G=)
c.*953G= (n.*953G=)
c.1534G= (p.Glu512=)
c.*814G= (n.*814G=)
c.1642G= (p.Glu548=)
c.964G= (p.Glu322=)
c.1549G= (p.Glu517=)
c.1418G= (n.1418G=)
c.226G= (p.Glu76=)
c.799G= (p.Glu267=)
c.1477G= (p.Glu493=)
c.1600G= (p.Glu534=)
c.874G= (p.Glu292=)
c.1480G= (p.Glu494=)
n.2423+2614C=
n.1839G=
10g.18539455G>TCA376071875CACNB2,NSUN6c.1570G>T (p.Glu524Ter)
c.1435G>T (p.Glu479Ter)
c.1558G>T (p.Glu520Ter)
c.1630G>T (p.Glu544Ter)
c.1714G>T (p.Glu572Ter)
c.1552G>T (p.Glu518Ter)
c.1339G>T (p.Glu447Ter)
c.1516G>T (p.Glu506Ter)
c.*855G>T (n.*855G>T)
c.1456G>T (p.Glu486Ter)
c.*988G>T (n.*988G>T)
c.1271G>T (n.1271G>T)
c.*953G>T (n.*953G>T)
c.1534G>T (p.Glu512Ter)
c.*814G>T (n.*814G>T)
c.1642G>T (p.Glu548Ter)
c.964G>T (p.Glu322Ter)
c.1549G>T (p.Glu517Ter)
c.1418G>T (n.1418G>T)
c.226G>T (p.Glu76Ter)
c.799G>T (p.Glu267Ter)
c.1477G>T (p.Glu493Ter)
c.1600G>T (p.Glu534Ter)
c.874G>T (p.Glu292Ter)
c.1480G>T (p.Glu494Ter)
n.2423+2614C>A
n.1839G>T
 dbSNP
10g.18539456A>CCA376071876CACNB2,NSUN6c.1571A>C (p.Glu524Ala)
c.1436A>C (p.Glu479Ala)
c.1559A>C (p.Glu520Ala)
c.1631A>C (p.Glu544Ala)
c.1715A>C (p.Glu572Ala)
c.1553A>C (p.Glu518Ala)
c.1340A>C (p.Glu447Ala)
c.1517A>C (p.Glu506Ala)
c.*856A>C (n.*856A>C)
c.1457A>C (p.Glu486Ala)
c.*989A>C (n.*989A>C)
c.1272A>C (n.1272A>C)
c.*954A>C (n.*954A>C)
c.1535A>C (p.Glu512Ala)
c.*815A>C (n.*815A>C)
c.1643A>C (p.Glu548Ala)
c.965A>C (p.Glu322Ala)
c.1550A>C (p.Glu517Ala)
c.1419A>C (n.1419A>C)
c.227A>C (p.Glu76Ala)
c.800A>C (p.Glu267Ala)
c.1478A>C (p.Glu493Ala)
c.1601A>C (p.Glu534Ala)
c.875A>C (p.Glu292Ala)
c.1481A>C (p.Glu494Ala)
n.2423+2613T>G
n.1840A>C
10g.18539456A>GCA376071877CACNB2,NSUN6c.1571A>G (p.Glu524Gly)
c.1436A>G (p.Glu479Gly)
c.1559A>G (p.Glu520Gly)
c.1631A>G (p.Glu544Gly)
c.1715A>G (p.Glu572Gly)
c.1553A>G (p.Glu518Gly)
c.1340A>G (p.Glu447Gly)
c.1517A>G (p.Glu506Gly)
c.*856A>G (n.*856A>G)
c.1457A>G (p.Glu486Gly)
c.*989A>G (n.*989A>G)
c.1272A>G (n.1272A>G)
c.*954A>G (n.*954A>G)
c.1535A>G (p.Glu512Gly)
c.*815A>G (n.*815A>G)
c.1643A>G (p.Glu548Gly)
c.965A>G (p.Glu322Gly)
c.1550A>G (p.Glu517Gly)
c.1419A>G (n.1419A>G)
c.227A>G (p.Glu76Gly)
c.800A>G (p.Glu267Gly)
c.1478A>G (p.Glu493Gly)
c.1601A>G (p.Glu534Gly)
c.875A>G (p.Glu292Gly)
c.1481A>G (p.Glu494Gly)
n.2423+2613T>C
n.1840A>G
10g.18539456A>TCA376071878CACNB2,NSUN6c.1571A>T (p.Glu524Val)
c.1436A>T (p.Glu479Val)
c.1559A>T (p.Glu520Val)
c.1631A>T (p.Glu544Val)
c.1715A>T (p.Glu572Val)
c.1553A>T (p.Glu518Val)
c.1340A>T (p.Glu447Val)
c.1517A>T (p.Glu506Val)
c.*856A>T (n.*856A>T)
c.1457A>T (p.Glu486Val)
c.*989A>T (n.*989A>T)
c.1272A>T (n.1272A>T)
c.*954A>T (n.*954A>T)
c.1535A>T (p.Glu512Val)
c.*815A>T (n.*815A>T)
c.1643A>T (p.Glu548Val)
c.965A>T (p.Glu322Val)
c.1550A>T (p.Glu517Val)
c.1419A>T (n.1419A>T)
c.227A>T (p.Glu76Val)
c.800A>T (p.Glu267Val)
c.1478A>T (p.Glu493Val)
c.1601A>T (p.Glu534Val)
c.875A>T (p.Glu292Val)
c.1481A>T (p.Glu494Val)
n.2423+2613T>A
n.1840A>T
 ClinVar gnomAD v4
10g.18539457A=CA1894173445CACNB2,NSUN6c.1572A= (p.Glu524=)
c.1437A= (p.Glu479=)
c.1560A= (p.Glu520=)
c.1632A= (p.Glu544=)
c.1716A= (p.Glu572=)
c.1554A= (p.Glu518=)
c.1341A= (p.Glu447=)
c.1518A= (p.Glu506=)
c.*857A= (n.*857A=)
c.1458A= (p.Glu486=)
c.*990A= (n.*990A=)
c.1273A= (n.1273A=)
c.*955A= (n.*955A=)
c.1536A= (p.Glu512=)
c.*816A= (n.*816A=)
c.1644A= (p.Glu548=)
c.966A= (p.Glu322=)
c.1551A= (p.Glu517=)
c.1420A= (n.1420A=)
c.228A= (p.Glu76=)
c.801A= (p.Glu267=)
c.1479A= (p.Glu493=)
c.1602A= (p.Glu534=)
c.876A= (p.Glu292=)
c.1482A= (p.Glu494=)
n.2423+2612T=
n.1841A=
10g.18539457A>CCA376071880CACNB2,NSUN6c.1572A>C (p.Glu524Asp)
c.1437A>C (p.Glu479Asp)
c.1560A>C (p.Glu520Asp)
c.1632A>C (p.Glu544Asp)
c.1716A>C (p.Glu572Asp)
c.1554A>C (p.Glu518Asp)
c.1341A>C (p.Glu447Asp)
c.1518A>C (p.Glu506Asp)
c.*857A>C (n.*857A>C)
c.1458A>C (p.Glu486Asp)
c.*990A>C (n.*990A>C)
c.1273A>C (n.1273A>C)
c.*955A>C (n.*955A>C)
c.1536A>C (p.Glu512Asp)
c.*816A>C (n.*816A>C)
c.1644A>C (p.Glu548Asp)
c.966A>C (p.Glu322Asp)
c.1551A>C (p.Glu517Asp)
c.1420A>C (n.1420A>C)
c.228A>C (p.Glu76Asp)
c.801A>C (p.Glu267Asp)
c.1479A>C (p.Glu493Asp)
c.1602A>C (p.Glu534Asp)
c.876A>C (p.Glu292Asp)
c.1482A>C (p.Glu494Asp)
n.2423+2612T>G
n.1841A>C
10g.18539457A>GCA5430141CACNB2,NSUN6c.1572A>G (p.Glu524=)
c.1437A>G (p.Glu479=)
c.1560A>G (p.Glu520=)
c.1632A>G (p.Glu544=)
c.1716A>G (p.Glu572=)
c.1554A>G (p.Glu518=)
c.1341A>G (p.Glu447=)
c.1518A>G (p.Glu506=)
c.*857A>G (n.*857A>G)
c.1458A>G (p.Glu486=)
c.*990A>G (n.*990A>G)
c.1273A>G (n.1273A>G)
c.*955A>G (n.*955A>G)
c.1536A>G (p.Glu512=)
c.*816A>G (n.*816A>G)
c.1644A>G (p.Glu548=)
c.966A>G (p.Glu322=)
c.1551A>G (p.Glu517=)
c.1420A>G (n.1420A>G)
c.228A>G (p.Glu76=)
c.801A>G (p.Glu267=)
c.1479A>G (p.Glu493=)
c.1602A>G (p.Glu534=)
c.876A>G (p.Glu292=)
c.1482A>G (p.Glu494=)
n.2423+2612T>C
n.1841A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539457A>TCA376071882CACNB2,NSUN6c.1572A>T (p.Glu524Asp)
c.1437A>T (p.Glu479Asp)
c.1560A>T (p.Glu520Asp)
c.1632A>T (p.Glu544Asp)
c.1716A>T (p.Glu572Asp)
c.1554A>T (p.Glu518Asp)
c.1341A>T (p.Glu447Asp)
c.1518A>T (p.Glu506Asp)
c.*857A>T (n.*857A>T)
c.1458A>T (p.Glu486Asp)
c.*990A>T (n.*990A>T)
c.1273A>T (n.1273A>T)
c.*955A>T (n.*955A>T)
c.1536A>T (p.Glu512Asp)
c.*816A>T (n.*816A>T)
c.1644A>T (p.Glu548Asp)
c.966A>T (p.Glu322Asp)
c.1551A>T (p.Glu517Asp)
c.1420A>T (n.1420A>T)
c.228A>T (p.Glu76Asp)
c.801A>T (p.Glu267Asp)
c.1479A>T (p.Glu493Asp)
c.1602A>T (p.Glu534Asp)
c.876A>T (p.Glu292Asp)
c.1482A>T (p.Glu494Asp)
n.2423+2612T>A
n.1841A>T
10g.18539458G>ACA376071883CACNB2,NSUN6c.1573G>A (p.Asp525Asn)
c.1438G>A (p.Asp480Asn)
c.1561G>A (p.Asp521Asn)
c.1633G>A (p.Asp545Asn)
c.1717G>A (p.Asp573Asn)
c.1555G>A (p.Asp519Asn)
c.1342G>A (p.Asp448Asn)
c.1519G>A (p.Asp507Asn)
c.*858G>A (n.*858G>A)
c.1459G>A (p.Asp487Asn)
c.*991G>A (n.*991G>A)
c.1274G>A (n.1274G>A)
c.*956G>A (n.*956G>A)
c.1537G>A (p.Asp513Asn)
c.*817G>A (n.*817G>A)
c.1645G>A (p.Asp549Asn)
c.967G>A (p.Asp323Asn)
c.1552G>A (p.Asp518Asn)
c.1421G>A (n.1421G>A)
c.229G>A (p.Asp77Asn)
c.802G>A (p.Asp268Asn)
c.1480G>A (p.Asp494Asn)
c.1603G>A (p.Asp535Asn)
c.877G>A (p.Asp293Asn)
c.1483G>A (p.Asp495Asn)
n.2423+2611C>T
n.1842G>A
10g.18539458G>CCA376071885CACNB2,NSUN6c.1573G>C (p.Asp525His)
c.1438G>C (p.Asp480His)
c.1561G>C (p.Asp521His)
c.1633G>C (p.Asp545His)
c.1717G>C (p.Asp573His)
c.1555G>C (p.Asp519His)
c.1342G>C (p.Asp448His)
c.1519G>C (p.Asp507His)
c.*858G>C (n.*858G>C)
c.1459G>C (p.Asp487His)
c.*991G>C (n.*991G>C)
c.1274G>C (n.1274G>C)
c.*956G>C (n.*956G>C)
c.1537G>C (p.Asp513His)
c.*817G>C (n.*817G>C)
c.1645G>C (p.Asp549His)
c.967G>C (p.Asp323His)
c.1552G>C (p.Asp518His)
c.1421G>C (n.1421G>C)
c.229G>C (p.Asp77His)
c.802G>C (p.Asp268His)
c.1480G>C (p.Asp494His)
c.1603G>C (p.Asp535His)
c.877G>C (p.Asp293His)
c.1483G>C (p.Asp495His)
n.2423+2611C>G
n.1842G>C
10g.18539458G=CA1894173450CACNB2,NSUN6c.1573G= (p.Asp525=)
c.1438G= (p.Asp480=)
c.1561G= (p.Asp521=)
c.1633G= (p.Asp545=)
c.1717G= (p.Asp573=)
c.1555G= (p.Asp519=)
c.1342G= (p.Asp448=)
c.1519G= (p.Asp507=)
c.*858G= (n.*858G=)
c.1459G= (p.Asp487=)
c.*991G= (n.*991G=)
c.1274G= (n.1274G=)
c.*956G= (n.*956G=)
c.1537G= (p.Asp513=)
c.*817G= (n.*817G=)
c.1645G= (p.Asp549=)
c.967G= (p.Asp323=)
c.1552G= (p.Asp518=)
c.1421G= (n.1421G=)
c.229G= (p.Asp77=)
c.802G= (p.Asp268=)
c.1480G= (p.Asp494=)
c.1603G= (p.Asp535=)
c.877G= (p.Asp293=)
c.1483G= (p.Asp495=)
n.2423+2611C=
n.1842G=
10g.18539458G>TCA203167251CACNB2,NSUN6c.1573G>T (p.Asp525Tyr)
c.1438G>T (p.Asp480Tyr)
c.1561G>T (p.Asp521Tyr)
c.1633G>T (p.Asp545Tyr)
c.1717G>T (p.Asp573Tyr)
c.1555G>T (p.Asp519Tyr)
c.1342G>T (p.Asp448Tyr)
c.1519G>T (p.Asp507Tyr)
c.*858G>T (n.*858G>T)
c.1459G>T (p.Asp487Tyr)
c.*991G>T (n.*991G>T)
c.1274G>T (n.1274G>T)
c.*956G>T (n.*956G>T)
c.1537G>T (p.Asp513Tyr)
c.*817G>T (n.*817G>T)
c.1645G>T (p.Asp549Tyr)
c.967G>T (p.Asp323Tyr)
c.1552G>T (p.Asp518Tyr)
c.1421G>T (n.1421G>T)
c.229G>T (p.Asp77Tyr)
c.802G>T (p.Asp268Tyr)
c.1480G>T (p.Asp494Tyr)
c.1603G>T (p.Asp535Tyr)
c.877G>T (p.Asp293Tyr)
c.1483G>T (p.Asp495Tyr)
n.2423+2611C>A
n.1842G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539459A=CA1894173459CACNB2,NSUN6c.1574A= (p.Asp525=)
c.1439A= (p.Asp480=)
c.1562A= (p.Asp521=)
c.1634A= (p.Asp545=)
c.1718A= (p.Asp573=)
c.1556A= (p.Asp519=)
c.1343A= (p.Asp448=)
c.1520A= (p.Asp507=)
c.*859A= (n.*859A=)
c.1460A= (p.Asp487=)
c.*992A= (n.*992A=)
c.1275A= (n.1275A=)
c.*957A= (n.*957A=)
c.1538A= (p.Asp513=)
c.*818A= (n.*818A=)
c.1646A= (p.Asp549=)
c.968A= (p.Asp323=)
c.1553A= (p.Asp518=)
c.1422A= (n.1422A=)
c.230A= (p.Asp77=)
c.803A= (p.Asp268=)
c.1481A= (p.Asp494=)
c.1604A= (p.Asp535=)
c.878A= (p.Asp293=)
c.1484A= (p.Asp495=)
n.2423+2610T=
n.1843A=
10g.18539459A>CCA5430143CACNB2,NSUN6c.1574A>C (p.Asp525Ala)
c.1439A>C (p.Asp480Ala)
c.1562A>C (p.Asp521Ala)
c.1634A>C (p.Asp545Ala)
c.1718A>C (p.Asp573Ala)
c.1556A>C (p.Asp519Ala)
c.1343A>C (p.Asp448Ala)
c.1520A>C (p.Asp507Ala)
c.*859A>C (n.*859A>C)
c.1460A>C (p.Asp487Ala)
c.*992A>C (n.*992A>C)
c.1275A>C (n.1275A>C)
c.*957A>C (n.*957A>C)
c.1538A>C (p.Asp513Ala)
c.*818A>C (n.*818A>C)
c.1646A>C (p.Asp549Ala)
c.968A>C (p.Asp323Ala)
c.1553A>C (p.Asp518Ala)
c.1422A>C (n.1422A>C)
c.230A>C (p.Asp77Ala)
c.803A>C (p.Asp268Ala)
c.1481A>C (p.Asp494Ala)
c.1604A>C (p.Asp535Ala)
c.878A>C (p.Asp293Ala)
c.1484A>C (p.Asp495Ala)
n.2423+2610T>G
n.1843A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539459A>GCA5430142CACNB2,NSUN6c.1574A>G (p.Asp525Gly)
c.1439A>G (p.Asp480Gly)
c.1562A>G (p.Asp521Gly)
c.1634A>G (p.Asp545Gly)
c.1718A>G (p.Asp573Gly)
c.1556A>G (p.Asp519Gly)
c.1343A>G (p.Asp448Gly)
c.1520A>G (p.Asp507Gly)
c.*859A>G (n.*859A>G)
c.1460A>G (p.Asp487Gly)
c.*992A>G (n.*992A>G)
c.1275A>G (n.1275A>G)
c.*957A>G (n.*957A>G)
c.1538A>G (p.Asp513Gly)
c.*818A>G (n.*818A>G)
c.1646A>G (p.Asp549Gly)
c.968A>G (p.Asp323Gly)
c.1553A>G (p.Asp518Gly)
c.1422A>G (n.1422A>G)
c.230A>G (p.Asp77Gly)
c.803A>G (p.Asp268Gly)
c.1481A>G (p.Asp494Gly)
c.1604A>G (p.Asp535Gly)
c.878A>G (p.Asp293Gly)
c.1484A>G (p.Asp495Gly)
n.2423+2610T>C
n.1843A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539459A>TCA376071888CACNB2,NSUN6c.1574A>T (p.Asp525Val)
c.1439A>T (p.Asp480Val)
c.1562A>T (p.Asp521Val)
c.1634A>T (p.Asp545Val)
c.1718A>T (p.Asp573Val)
c.1556A>T (p.Asp519Val)
c.1343A>T (p.Asp448Val)
c.1520A>T (p.Asp507Val)
c.*859A>T (n.*859A>T)
c.1460A>T (p.Asp487Val)
c.*992A>T (n.*992A>T)
c.1275A>T (n.1275A>T)
c.*957A>T (n.*957A>T)
c.1538A>T (p.Asp513Val)
c.*818A>T (n.*818A>T)
c.1646A>T (p.Asp549Val)
c.968A>T (p.Asp323Val)
c.1553A>T (p.Asp518Val)
c.1422A>T (n.1422A>T)
c.230A>T (p.Asp77Val)
c.803A>T (p.Asp268Val)
c.1481A>T (p.Asp494Val)
c.1604A>T (p.Asp535Val)
c.878A>T (p.Asp293Val)
c.1484A>T (p.Asp495Val)
n.2423+2610T>A
n.1843A>T
10g.18539460T>ACA376071894CACNB2,NSUN6c.1575T>A (p.Asp525Glu)
c.1440T>A (p.Asp480Glu)
c.1563T>A (p.Asp521Glu)
c.1635T>A (p.Asp545Glu)
c.1719T>A (p.Asp573Glu)
c.1557T>A (p.Asp519Glu)
c.1344T>A (p.Asp448Glu)
c.1521T>A (p.Asp507Glu)
c.*860T>A (n.*860T>A)
c.1461T>A (p.Asp487Glu)
c.*993T>A (n.*993T>A)
c.1276T>A (n.1276T>A)
c.*958T>A (n.*958T>A)
c.1539T>A (p.Asp513Glu)
c.*819T>A (n.*819T>A)
c.1647T>A (p.Asp549Glu)
c.969T>A (p.Asp323Glu)
c.1554T>A (p.Asp518Glu)
c.1423T>A (n.1423T>A)
c.231T>A (p.Asp77Glu)
c.804T>A (p.Asp268Glu)
c.1482T>A (p.Asp494Glu)
c.1605T>A (p.Asp535Glu)
c.879T>A (p.Asp293Glu)
c.1485T>A (p.Asp495Glu)
n.2423+2609A>T
n.1844T>A
10g.18539460T>CCA5430144CACNB2,NSUN6c.1575T>C (p.Asp525=)
c.1440T>C (p.Asp480=)
c.1563T>C (p.Asp521=)
c.1635T>C (p.Asp545=)
c.1719T>C (p.Asp573=)
c.1557T>C (p.Asp519=)
c.1344T>C (p.Asp448=)
c.1521T>C (p.Asp507=)
c.*860T>C (n.*860T>C)
c.1461T>C (p.Asp487=)
c.*993T>C (n.*993T>C)
c.1276T>C (n.1276T>C)
c.*958T>C (n.*958T>C)
c.1539T>C (p.Asp513=)
c.*819T>C (n.*819T>C)
c.1647T>C (p.Asp549=)
c.969T>C (p.Asp323=)
c.1554T>C (p.Asp518=)
c.1423T>C (n.1423T>C)
c.231T>C (p.Asp77=)
c.804T>C (p.Asp268=)
c.1482T>C (p.Asp494=)
c.1605T>C (p.Asp535=)
c.879T>C (p.Asp293=)
c.1485T>C (p.Asp495=)
n.2423+2609A>G
n.1844T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539460T>GCA376071892CACNB2,NSUN6c.1575T>G (p.Asp525Glu)
c.1440T>G (p.Asp480Glu)
c.1563T>G (p.Asp521Glu)
c.1635T>G (p.Asp545Glu)
c.1719T>G (p.Asp573Glu)
c.1557T>G (p.Asp519Glu)
c.1344T>G (p.Asp448Glu)
c.1521T>G (p.Asp507Glu)
c.*860T>G (n.*860T>G)
c.1461T>G (p.Asp487Glu)
c.*993T>G (n.*993T>G)
c.1276T>G (n.1276T>G)
c.*958T>G (n.*958T>G)
c.1539T>G (p.Asp513Glu)
c.*819T>G (n.*819T>G)
c.1647T>G (p.Asp549Glu)
c.969T>G (p.Asp323Glu)
c.1554T>G (p.Asp518Glu)
c.1423T>G (n.1423T>G)
c.231T>G (p.Asp77Glu)
c.804T>G (p.Asp268Glu)
c.1482T>G (p.Asp494Glu)
c.1605T>G (p.Asp535Glu)
c.879T>G (p.Asp293Glu)
c.1485T>G (p.Asp495Glu)
n.2423+2609A>C
n.1844T>G
10g.18539460T=CA1894173472CACNB2,NSUN6c.1575T= (p.Asp525=)
c.1440T= (p.Asp480=)
c.1563T= (p.Asp521=)
c.1635T= (p.Asp545=)
c.1719T= (p.Asp573=)
c.1557T= (p.Asp519=)
c.1344T= (p.Asp448=)
c.1521T= (p.Asp507=)
c.*860T= (n.*860T=)
c.1461T= (p.Asp487=)
c.*993T= (n.*993T=)
c.1276T= (n.1276T=)
c.*958T= (n.*958T=)
c.1539T= (p.Asp513=)
c.*819T= (n.*819T=)
c.1647T= (p.Asp549=)
c.969T= (p.Asp323=)
c.1554T= (p.Asp518=)
c.1423T= (n.1423T=)
c.231T= (p.Asp77=)
c.804T= (p.Asp268=)
c.1482T= (p.Asp494=)
c.1605T= (p.Asp535=)
c.879T= (p.Asp293=)
c.1485T= (p.Asp495=)
n.2423+2609A=
n.1844T=
10g.18539461T>ACA376071895CACNB2,NSUN6c.1576T>A (p.Tyr526Asn)
c.1441T>A (p.Tyr481Asn)
c.1564T>A (p.Tyr522Asn)
c.1636T>A (p.Tyr546Asn)
c.1720T>A (p.Tyr574Asn)
c.1558T>A (p.Tyr520Asn)
c.1345T>A (p.Tyr449Asn)
c.1522T>A (p.Tyr508Asn)
c.*861T>A (n.*861T>A)
c.1462T>A (p.Tyr488Asn)
c.*994T>A (n.*994T>A)
c.1277T>A (n.1277T>A)
c.*959T>A (n.*959T>A)
c.1540T>A (p.Tyr514Asn)
c.*820T>A (n.*820T>A)
c.1648T>A (p.Tyr550Asn)
c.970T>A (p.Tyr324Asn)
c.1555T>A (p.Tyr519Asn)
c.1424T>A (n.1424T>A)
c.232T>A (p.Tyr78Asn)
c.805T>A (p.Tyr269Asn)
c.1483T>A (p.Tyr495Asn)
c.1606T>A (p.Tyr536Asn)
c.880T>A (p.Tyr294Asn)
c.1486T>A (p.Tyr496Asn)
n.2423+2608A>T
n.1845T>A
 dbSNP gnomAD v3 gnomAD v4
10g.18539461T>CCA376071897CACNB2,NSUN6c.1576T>C (p.Tyr526His)
c.1441T>C (p.Tyr481His)
c.1564T>C (p.Tyr522His)
c.1636T>C (p.Tyr546His)
c.1720T>C (p.Tyr574His)
c.1558T>C (p.Tyr520His)
c.1345T>C (p.Tyr449His)
c.1522T>C (p.Tyr508His)
c.*861T>C (n.*861T>C)
c.1462T>C (p.Tyr488His)
c.*994T>C (n.*994T>C)
c.1277T>C (n.1277T>C)
c.*959T>C (n.*959T>C)
c.1540T>C (p.Tyr514His)
c.*820T>C (n.*820T>C)
c.1648T>C (p.Tyr550His)
c.970T>C (p.Tyr324His)
c.1555T>C (p.Tyr519His)
c.1424T>C (n.1424T>C)
c.232T>C (p.Tyr78His)
c.805T>C (p.Tyr269His)
c.1483T>C (p.Tyr495His)
c.1606T>C (p.Tyr536His)
c.880T>C (p.Tyr294His)
c.1486T>C (p.Tyr496His)
n.2423+2608A>G
n.1845T>C
 gnomAD v4
10g.18539461T>GCA5430145CACNB2,NSUN6c.1576T>G (p.Tyr526Asp)
c.1441T>G (p.Tyr481Asp)
c.1564T>G (p.Tyr522Asp)
c.1636T>G (p.Tyr546Asp)
c.1720T>G (p.Tyr574Asp)
c.1558T>G (p.Tyr520Asp)
c.1345T>G (p.Tyr449Asp)
c.1522T>G (p.Tyr508Asp)
c.*861T>G (n.*861T>G)
c.1462T>G (p.Tyr488Asp)
c.*994T>G (n.*994T>G)
c.1277T>G (n.1277T>G)
c.*959T>G (n.*959T>G)
c.1540T>G (p.Tyr514Asp)
c.*820T>G (n.*820T>G)
c.1648T>G (p.Tyr550Asp)
c.970T>G (p.Tyr324Asp)
c.1555T>G (p.Tyr519Asp)
c.1424T>G (n.1424T>G)
c.232T>G (p.Tyr78Asp)
c.805T>G (p.Tyr269Asp)
c.1483T>G (p.Tyr495Asp)
c.1606T>G (p.Tyr536Asp)
c.880T>G (p.Tyr294Asp)
c.1486T>G (p.Tyr496Asp)
n.2423+2608A>C
n.1845T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539461T=CA1894173477CACNB2,NSUN6c.1576T= (p.Tyr526=)
c.1441T= (p.Tyr481=)
c.1564T= (p.Tyr522=)
c.1636T= (p.Tyr546=)
c.1720T= (p.Tyr574=)
c.1558T= (p.Tyr520=)
c.1345T= (p.Tyr449=)
c.1522T= (p.Tyr508=)
c.*861T= (n.*861T=)
c.1462T= (p.Tyr488=)
c.*994T= (n.*994T=)
c.1277T= (n.1277T=)
c.*959T= (n.*959T=)
c.1540T= (p.Tyr514=)
c.*820T= (n.*820T=)
c.1648T= (p.Tyr550=)
c.970T= (p.Tyr324=)
c.1555T= (p.Tyr519=)
c.1424T= (n.1424T=)
c.232T= (p.Tyr78=)
c.805T= (p.Tyr269=)
c.1483T= (p.Tyr495=)
c.1606T= (p.Tyr536=)
c.880T= (p.Tyr294=)
c.1486T= (p.Tyr496=)
n.2423+2608A=
n.1845T=
10g.18539462A>CCA376071898CACNB2,NSUN6c.1577A>C (p.Tyr526Ser)
c.1442A>C (p.Tyr481Ser)
c.1565A>C (p.Tyr522Ser)
c.1637A>C (p.Tyr546Ser)
c.1721A>C (p.Tyr574Ser)
c.1559A>C (p.Tyr520Ser)
c.1346A>C (p.Tyr449Ser)
c.1523A>C (p.Tyr508Ser)
c.*862A>C (n.*862A>C)
c.1463A>C (p.Tyr488Ser)
c.*995A>C (n.*995A>C)
c.1278A>C (n.1278A>C)
c.*960A>C (n.*960A>C)
c.1541A>C (p.Tyr514Ser)
c.*821A>C (n.*821A>C)
c.1649A>C (p.Tyr550Ser)
c.971A>C (p.Tyr324Ser)
c.1556A>C (p.Tyr519Ser)
c.1425A>C (n.1425A>C)
c.233A>C (p.Tyr78Ser)
c.806A>C (p.Tyr269Ser)
c.1484A>C (p.Tyr495Ser)
c.1607A>C (p.Tyr536Ser)
c.881A>C (p.Tyr294Ser)
c.1487A>C (p.Tyr496Ser)
n.2423+2607T>G
n.1846A>C
10g.18539462A>GCA376071899CACNB2,NSUN6c.1577A>G (p.Tyr526Cys)
c.1442A>G (p.Tyr481Cys)
c.1565A>G (p.Tyr522Cys)
c.1637A>G (p.Tyr546Cys)
c.1721A>G (p.Tyr574Cys)
c.1559A>G (p.Tyr520Cys)
c.1346A>G (p.Tyr449Cys)
c.1523A>G (p.Tyr508Cys)
c.*862A>G (n.*862A>G)
c.1463A>G (p.Tyr488Cys)
c.*995A>G (n.*995A>G)
c.1278A>G (n.1278A>G)
c.*960A>G (n.*960A>G)
c.1541A>G (p.Tyr514Cys)
c.*821A>G (n.*821A>G)
c.1649A>G (p.Tyr550Cys)
c.971A>G (p.Tyr324Cys)
c.1556A>G (p.Tyr519Cys)
c.1425A>G (n.1425A>G)
c.233A>G (p.Tyr78Cys)
c.806A>G (p.Tyr269Cys)
c.1484A>G (p.Tyr495Cys)
c.1607A>G (p.Tyr536Cys)
c.881A>G (p.Tyr294Cys)
c.1487A>G (p.Tyr496Cys)
n.2423+2607T>C
n.1846A>G
10g.18539462A>TCA376071901CACNB2,NSUN6c.1577A>T (p.Tyr526Phe)
c.1442A>T (p.Tyr481Phe)
c.1565A>T (p.Tyr522Phe)
c.1637A>T (p.Tyr546Phe)
c.1721A>T (p.Tyr574Phe)
c.1559A>T (p.Tyr520Phe)
c.1346A>T (p.Tyr449Phe)
c.1523A>T (p.Tyr508Phe)
c.*862A>T (n.*862A>T)
c.1463A>T (p.Tyr488Phe)
c.*995A>T (n.*995A>T)
c.1278A>T (n.1278A>T)
c.*960A>T (n.*960A>T)
c.1541A>T (p.Tyr514Phe)
c.*821A>T (n.*821A>T)
c.1649A>T (p.Tyr550Phe)
c.971A>T (p.Tyr324Phe)
c.1556A>T (p.Tyr519Phe)
c.1425A>T (n.1425A>T)
c.233A>T (p.Tyr78Phe)
c.806A>T (p.Tyr269Phe)
c.1484A>T (p.Tyr495Phe)
c.1607A>T (p.Tyr536Phe)
c.881A>T (p.Tyr294Phe)
c.1487A>T (p.Tyr496Phe)
n.2423+2607T>A
n.1846A>T
 gnomAD v3 gnomAD v4
10g.18539463T>ACA376071903CACNB2,NSUN6c.1578T>A (p.Tyr526Ter)
c.1443T>A (p.Tyr481Ter)
c.1566T>A (p.Tyr522Ter)
c.1638T>A (p.Tyr546Ter)
c.1722T>A (p.Tyr574Ter)
c.1560T>A (p.Tyr520Ter)
c.1347T>A (p.Tyr449Ter)
c.1524T>A (p.Tyr508Ter)
c.*863T>A (n.*863T>A)
c.1464T>A (p.Tyr488Ter)
c.*996T>A (n.*996T>A)
c.1279T>A (n.1279T>A)
c.*961T>A (n.*961T>A)
c.1542T>A (p.Tyr514Ter)
c.*822T>A (n.*822T>A)
c.1650T>A (p.Tyr550Ter)
c.972T>A (p.Tyr324Ter)
c.1557T>A (p.Tyr519Ter)
c.1426T>A (n.1426T>A)
c.234T>A (p.Tyr78Ter)
c.807T>A (p.Tyr269Ter)
c.1485T>A (p.Tyr495Ter)
c.1608T>A (p.Tyr536Ter)
c.882T>A (p.Tyr294Ter)
c.1488T>A (p.Tyr496Ter)
n.2423+2606A>T
n.1847T>A
 gnomAD v4
10g.18539463T>CCA468629365CACNB2,NSUN6c.1578T>C (p.Tyr526=)
c.1443T>C (p.Tyr481=)
c.1566T>C (p.Tyr522=)
c.1638T>C (p.Tyr546=)
c.1722T>C (p.Tyr574=)
c.1560T>C (p.Tyr520=)
c.1347T>C (p.Tyr449=)
c.1524T>C (p.Tyr508=)
c.*863T>C (n.*863T>C)
c.1464T>C (p.Tyr488=)
c.*996T>C (n.*996T>C)
c.1279T>C (n.1279T>C)
c.*961T>C (n.*961T>C)
c.1542T>C (p.Tyr514=)
c.*822T>C (n.*822T>C)
c.1650T>C (p.Tyr550=)
c.972T>C (p.Tyr324=)
c.1557T>C (p.Tyr519=)
c.1426T>C (n.1426T>C)
c.234T>C (p.Tyr78=)
c.807T>C (p.Tyr269=)
c.1485T>C (p.Tyr495=)
c.1608T>C (p.Tyr536=)
c.882T>C (p.Tyr294=)
c.1488T>C (p.Tyr496=)
n.2423+2606A>G
n.1847T>C
10g.18539463T>GCA376071904CACNB2,NSUN6c.1578T>G (p.Tyr526Ter)
c.1443T>G (p.Tyr481Ter)
c.1566T>G (p.Tyr522Ter)
c.1638T>G (p.Tyr546Ter)
c.1722T>G (p.Tyr574Ter)
c.1560T>G (p.Tyr520Ter)
c.1347T>G (p.Tyr449Ter)
c.1524T>G (p.Tyr508Ter)
c.*863T>G (n.*863T>G)
c.1464T>G (p.Tyr488Ter)
c.*996T>G (n.*996T>G)
c.1279T>G (n.1279T>G)
c.*961T>G (n.*961T>G)
c.1542T>G (p.Tyr514Ter)
c.*822T>G (n.*822T>G)
c.1650T>G (p.Tyr550Ter)
c.972T>G (p.Tyr324Ter)
c.1557T>G (p.Tyr519Ter)
c.1426T>G (n.1426T>G)
c.234T>G (p.Tyr78Ter)
c.807T>G (p.Tyr269Ter)
c.1485T>G (p.Tyr495Ter)
c.1608T>G (p.Tyr536Ter)
c.882T>G (p.Tyr294Ter)
c.1488T>G (p.Tyr496Ter)
n.2423+2606A>C
n.1847T>G
 dbSNP
10g.18539464T>ACA376071905CACNB2,NSUN6c.1579T>A (p.Ser527Thr)
c.1444T>A (p.Ser482Thr)
c.1567T>A (p.Ser523Thr)
c.1639T>A (p.Ser547Thr)
c.1723T>A (p.Ser575Thr)
c.1561T>A (p.Ser521Thr)
c.1348T>A (p.Ser450Thr)
c.1525T>A (p.Ser509Thr)
c.*864T>A (n.*864T>A)
c.1465T>A (p.Ser489Thr)
c.*997T>A (n.*997T>A)
c.1280T>A (n.1280T>A)
c.*962T>A (n.*962T>A)
c.1543T>A (p.Ser515Thr)
c.*823T>A (n.*823T>A)
c.1651T>A (p.Ser551Thr)
c.973T>A (p.Ser325Thr)
c.1558T>A (p.Ser520Thr)
c.1427T>A (n.1427T>A)
c.235T>A (p.Ser79Thr)
c.808T>A (p.Ser270Thr)
c.1486T>A (p.Ser496Thr)
c.1609T>A (p.Ser537Thr)
c.883T>A (p.Ser295Thr)
c.1489T>A (p.Ser497Thr)
n.2423+2605A>T
n.1848T>A
10g.18539464T>CCA376071906CACNB2,NSUN6c.1579T>C (p.Ser527Pro)
c.1444T>C (p.Ser482Pro)
c.1567T>C (p.Ser523Pro)
c.1639T>C (p.Ser547Pro)
c.1723T>C (p.Ser575Pro)
c.1561T>C (p.Ser521Pro)
c.1348T>C (p.Ser450Pro)
c.1525T>C (p.Ser509Pro)
c.*864T>C (n.*864T>C)
c.1465T>C (p.Ser489Pro)
c.*997T>C (n.*997T>C)
c.1280T>C (n.1280T>C)
c.*962T>C (n.*962T>C)
c.1543T>C (p.Ser515Pro)
c.*823T>C (n.*823T>C)
c.1651T>C (p.Ser551Pro)
c.973T>C (p.Ser325Pro)
c.1558T>C (p.Ser520Pro)
c.1427T>C (n.1427T>C)
c.235T>C (p.Ser79Pro)
c.808T>C (p.Ser270Pro)
c.1486T>C (p.Ser496Pro)
c.1609T>C (p.Ser537Pro)
c.883T>C (p.Ser295Pro)
c.1489T>C (p.Ser497Pro)
n.2423+2605A>G
n.1848T>C
10g.18539464T>GCA376071907CACNB2,NSUN6c.1579T>G (p.Ser527Ala)
c.1444T>G (p.Ser482Ala)
c.1567T>G (p.Ser523Ala)
c.1639T>G (p.Ser547Ala)
c.1723T>G (p.Ser575Ala)
c.1561T>G (p.Ser521Ala)
c.1348T>G (p.Ser450Ala)
c.1525T>G (p.Ser509Ala)
c.*864T>G (n.*864T>G)
c.1465T>G (p.Ser489Ala)
c.*997T>G (n.*997T>G)
c.1280T>G (n.1280T>G)
c.*962T>G (n.*962T>G)
c.1543T>G (p.Ser515Ala)
c.*823T>G (n.*823T>G)
c.1651T>G (p.Ser551Ala)
c.973T>G (p.Ser325Ala)
c.1558T>G (p.Ser520Ala)
c.1427T>G (n.1427T>G)
c.235T>G (p.Ser79Ala)
c.808T>G (p.Ser270Ala)
c.1486T>G (p.Ser496Ala)
c.1609T>G (p.Ser537Ala)
c.883T>G (p.Ser295Ala)
c.1489T>G (p.Ser497Ala)
n.2423+2605A>C
n.1848T>G
10g.18539465C>ACA376071909CACNB2,NSUN6c.1580C>A (p.Ser527Tyr)
c.1445C>A (p.Ser482Tyr)
c.1568C>A (p.Ser523Tyr)
c.1640C>A (p.Ser547Tyr)
c.1724C>A (p.Ser575Tyr)
c.1562C>A (p.Ser521Tyr)
c.1349C>A (p.Ser450Tyr)
c.1526C>A (p.Ser509Tyr)
c.*865C>A (n.*865C>A)
c.1466C>A (p.Ser489Tyr)
c.*998C>A (n.*998C>A)
c.1281C>A (n.1281C>A)
c.*963C>A (n.*963C>A)
c.1544C>A (p.Ser515Tyr)
c.*824C>A (n.*824C>A)
c.1652C>A (p.Ser551Tyr)
c.974C>A (p.Ser325Tyr)
c.1559C>A (p.Ser520Tyr)
c.1428C>A (n.1428C>A)
c.236C>A (p.Ser79Tyr)
c.809C>A (p.Ser270Tyr)
c.1487C>A (p.Ser496Tyr)
c.1610C>A (p.Ser537Tyr)
c.884C>A (p.Ser295Tyr)
c.1490C>A (p.Ser497Tyr)
n.2423+2604G>T
n.1849C>A
10g.18539465C>GCA376071912CACNB2,NSUN6c.1580C>G (p.Ser527Cys)
c.1445C>G (p.Ser482Cys)
c.1568C>G (p.Ser523Cys)
c.1640C>G (p.Ser547Cys)
c.1724C>G (p.Ser575Cys)
c.1562C>G (p.Ser521Cys)
c.1349C>G (p.Ser450Cys)
c.1526C>G (p.Ser509Cys)
c.*865C>G (n.*865C>G)
c.1466C>G (p.Ser489Cys)
c.*998C>G (n.*998C>G)
c.1281C>G (n.1281C>G)
c.*963C>G (n.*963C>G)
c.1544C>G (p.Ser515Cys)
c.*824C>G (n.*824C>G)
c.1652C>G (p.Ser551Cys)
c.974C>G (p.Ser325Cys)
c.1559C>G (p.Ser520Cys)
c.1428C>G (n.1428C>G)
c.236C>G (p.Ser79Cys)
c.809C>G (p.Ser270Cys)
c.1487C>G (p.Ser496Cys)
c.1610C>G (p.Ser537Cys)
c.884C>G (p.Ser295Cys)
c.1490C>G (p.Ser497Cys)
n.2423+2604G>C
n.1849C>G
10g.18539465C>TCA376071911CACNB2,NSUN6c.1580C>T (p.Ser527Phe)
c.1445C>T (p.Ser482Phe)
c.1568C>T (p.Ser523Phe)
c.1640C>T (p.Ser547Phe)
c.1724C>T (p.Ser575Phe)
c.1562C>T (p.Ser521Phe)
c.1349C>T (p.Ser450Phe)
c.1526C>T (p.Ser509Phe)
c.*865C>T (n.*865C>T)
c.1466C>T (p.Ser489Phe)
c.*998C>T (n.*998C>T)
c.1281C>T (n.1281C>T)
c.*963C>T (n.*963C>T)
c.1544C>T (p.Ser515Phe)
c.*824C>T (n.*824C>T)
c.1652C>T (p.Ser551Phe)
c.974C>T (p.Ser325Phe)
c.1559C>T (p.Ser520Phe)
c.1428C>T (n.1428C>T)
c.236C>T (p.Ser79Phe)
c.809C>T (p.Ser270Phe)
c.1487C>T (p.Ser496Phe)
c.1610C>T (p.Ser537Phe)
c.884C>T (p.Ser295Phe)
c.1490C>T (p.Ser497Phe)
n.2423+2604G>A
n.1849C>T
 COSMIC COSMIC COSMIC COSMIC COSMIC
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.18539466C>ACA468629390CACNB2,NSUN6c.1581C>A (p.Ser527=)
c.1446C>A (p.Ser482=)
c.1569C>A (p.Ser523=)
c.1641C>A (p.Ser547=)
c.1725C>A (p.Ser575=)
c.1563C>A (p.Ser521=)
c.1350C>A (p.Ser450=)
c.1527C>A (p.Ser509=)
c.*866C>A (n.*866C>A)
c.1467C>A (p.Ser489=)
c.*999C>A (n.*999C>A)
c.1282C>A (n.1282C>A)
c.*964C>A (n.*964C>A)
c.1545C>A (p.Ser515=)
c.*825C>A (n.*825C>A)
c.1653C>A (p.Ser551=)
c.975C>A (p.Ser325=)
c.1560C>A (p.Ser520=)
c.1429C>A (n.1429C>A)
c.237C>A (p.Ser79=)
c.810C>A (p.Ser270=)
c.1488C>A (p.Ser496=)
c.1611C>A (p.Ser537=)
c.885C>A (p.Ser295=)
c.1491C>A (p.Ser497=)
n.2423+2603G>T
n.1850C>A
 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539466C>GCA468629393CACNB2,NSUN6c.1581C>G (p.Ser527=)
c.1446C>G (p.Ser482=)
c.1569C>G (p.Ser523=)
c.1641C>G (p.Ser547=)
c.1725C>G (p.Ser575=)
c.1563C>G (p.Ser521=)
c.1350C>G (p.Ser450=)
c.1527C>G (p.Ser509=)
c.*866C>G (n.*866C>G)
c.1467C>G (p.Ser489=)
c.*999C>G (n.*999C>G)
c.1282C>G (n.1282C>G)
c.*964C>G (n.*964C>G)
c.1545C>G (p.Ser515=)
c.*825C>G (n.*825C>G)
c.1653C>G (p.Ser551=)
c.975C>G (p.Ser325=)
c.1560C>G (p.Ser520=)
c.1429C>G (n.1429C>G)
c.237C>G (p.Ser79=)
c.810C>G (p.Ser270=)
c.1488C>G (p.Ser496=)
c.1611C>G (p.Ser537=)
c.885C>G (p.Ser295=)
c.1491C>G (p.Ser497=)
n.2423+2603G>C
n.1850C>G
10g.18539466C>TCA468629399CACNB2,NSUN6c.1581C>T (p.Ser527=)
c.1446C>T (p.Ser482=)
c.1569C>T (p.Ser523=)
c.1641C>T (p.Ser547=)
c.1725C>T (p.Ser575=)
c.1563C>T (p.Ser521=)
c.1350C>T (p.Ser450=)
c.1527C>T (p.Ser509=)
c.*866C>T (n.*866C>T)
c.1467C>T (p.Ser489=)
c.*999C>T (n.*999C>T)
c.1282C>T (n.1282C>T)
c.*964C>T (n.*964C>T)
c.1545C>T (p.Ser515=)
c.*825C>T (n.*825C>T)
c.1653C>T (p.Ser551=)
c.975C>T (p.Ser325=)
c.1560C>T (p.Ser520=)
c.1429C>T (n.1429C>T)
c.237C>T (p.Ser79=)
c.810C>T (p.Ser270=)
c.1488C>T (p.Ser496=)
c.1611C>T (p.Ser537=)
c.885C>T (p.Ser295=)
c.1491C>T (p.Ser497=)
n.2423+2603G>A
n.1850C>T
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.18539467C>ACA376071914CACNB2,NSUN6c.1582C>A (p.His528Asn)
c.1447C>A (p.His483Asn)
c.1570C>A (p.His524Asn)
c.1642C>A (p.His548Asn)
c.1726C>A (p.His576Asn)
c.1564C>A (p.His522Asn)
c.1351C>A (p.His451Asn)
c.1528C>A (p.His510Asn)
c.*867C>A (n.*867C>A)
c.1468C>A (p.His490Asn)
c.*1000C>A (n.*1000C>A)
c.1283C>A (n.1283C>A)
c.*965C>A (n.*965C>A)
c.1546C>A (p.His516Asn)
c.*826C>A (n.*826C>A)
c.1654C>A (p.His552Asn)
c.976C>A (p.His326Asn)
c.1561C>A (p.His521Asn)
c.1430C>A (n.1430C>A)
c.238C>A (p.His80Asn)
c.811C>A (p.His271Asn)
c.1489C>A (p.His497Asn)
c.1612C>A (p.His538Asn)
c.886C>A (p.His296Asn)
c.1492C>A (p.His498Asn)
n.2423+2602G>T
n.1851C>A
 dbSNP
10g.18539467C=CA1894173498CACNB2,NSUN6c.1582C= (p.His528=)
c.1447C= (p.His483=)
c.1570C= (p.His524=)
c.1642C= (p.His548=)
c.1726C= (p.His576=)
c.1564C= (p.His522=)
c.1351C= (p.His451=)
c.1528C= (p.His510=)
c.*867C= (n.*867C=)
c.1468C= (p.His490=)
c.*1000C= (n.*1000C=)
c.1283C= (n.1283C=)
c.*965C= (n.*965C=)
c.1546C= (p.His516=)
c.*826C= (n.*826C=)
c.1654C= (p.His552=)
c.976C= (p.His326=)
c.1561C= (p.His521=)
c.1430C= (n.1430C=)
c.238C= (p.His80=)
c.811C= (p.His271=)
c.1489C= (p.His497=)
c.1612C= (p.His538=)
c.886C= (p.His296=)
c.1492C= (p.His498=)
n.2423+2602G=
n.1851C=
10g.18539467C>GCA376071916CACNB2,NSUN6c.1582C>G (p.His528Asp)
c.1447C>G (p.His483Asp)
c.1570C>G (p.His524Asp)
c.1642C>G (p.His548Asp)
c.1726C>G (p.His576Asp)
c.1564C>G (p.His522Asp)
c.1351C>G (p.His451Asp)
c.1528C>G (p.His510Asp)
c.*867C>G (n.*867C>G)
c.1468C>G (p.His490Asp)
c.*1000C>G (n.*1000C>G)
c.1283C>G (n.1283C>G)
c.*965C>G (n.*965C>G)
c.1546C>G (p.His516Asp)
c.*826C>G (n.*826C>G)
c.1654C>G (p.His552Asp)
c.976C>G (p.His326Asp)
c.1561C>G (p.His521Asp)
c.1430C>G (n.1430C>G)
c.238C>G (p.His80Asp)
c.811C>G (p.His271Asp)
c.1489C>G (p.His497Asp)
c.1612C>G (p.His538Asp)
c.886C>G (p.His296Asp)
c.1492C>G (p.His498Asp)
n.2423+2602G>C
n.1851C>G
10g.18539467C>TCA203167261CACNB2,NSUN6c.1582C>T (p.His528Tyr)
c.1447C>T (p.His483Tyr)
c.1570C>T (p.His524Tyr)
c.1642C>T (p.His548Tyr)
c.1726C>T (p.His576Tyr)
c.1564C>T (p.His522Tyr)
c.1351C>T (p.His451Tyr)
c.1528C>T (p.His510Tyr)
c.*867C>T (n.*867C>T)
c.1468C>T (p.His490Tyr)
c.*1000C>T (n.*1000C>T)
c.1283C>T (n.1283C>T)
c.*965C>T (n.*965C>T)
c.1546C>T (p.His516Tyr)
c.*826C>T (n.*826C>T)
c.1654C>T (p.His552Tyr)
c.976C>T (p.His326Tyr)
c.1561C>T (p.His521Tyr)
c.1430C>T (n.1430C>T)
c.238C>T (p.His80Tyr)
c.811C>T (p.His271Tyr)
c.1489C>T (p.His497Tyr)
c.1612C>T (p.His538Tyr)
c.886C>T (p.His296Tyr)
c.1492C>T (p.His498Tyr)
n.2423+2602G>A
n.1851C>T
 ClinVar dbSNP gnomAD v4
10g.18539468A>CCA376071919CACNB2,NSUN6c.1583A>C (p.His528Pro)
c.1448A>C (p.His483Pro)
c.1571A>C (p.His524Pro)
c.1643A>C (p.His548Pro)
c.1727A>C (p.His576Pro)
c.1565A>C (p.His522Pro)
c.1352A>C (p.His451Pro)
c.1529A>C (p.His510Pro)
c.*868A>C (n.*868A>C)
c.1469A>C (p.His490Pro)
c.*1001A>C (n.*1001A>C)
c.1284A>C (n.1284A>C)
c.*966A>C (n.*966A>C)
c.1547A>C (p.His516Pro)
c.*827A>C (n.*827A>C)
c.1655A>C (p.His552Pro)
c.977A>C (p.His326Pro)
c.1562A>C (p.His521Pro)
c.1431A>C (n.1431A>C)
c.239A>C (p.His80Pro)
c.812A>C (p.His271Pro)
c.1490A>C (p.His497Pro)
c.1613A>C (p.His538Pro)
c.887A>C (p.His296Pro)
c.1493A>C (p.His498Pro)
n.2423+2601T>G
n.1852A>C
 gnomAD v4
10g.18539468A>GCA376071921CACNB2,NSUN6c.1583A>G (p.His528Arg)
c.1448A>G (p.His483Arg)
c.1571A>G (p.His524Arg)
c.1643A>G (p.His548Arg)
c.1727A>G (p.His576Arg)
c.1565A>G (p.His522Arg)
c.1352A>G (p.His451Arg)
c.1529A>G (p.His510Arg)
c.*868A>G (n.*868A>G)
c.1469A>G (p.His490Arg)
c.*1001A>G (n.*1001A>G)
c.1284A>G (n.1284A>G)
c.*966A>G (n.*966A>G)
c.1547A>G (p.His516Arg)
c.*827A>G (n.*827A>G)
c.1655A>G (p.His552Arg)
c.977A>G (p.His326Arg)
c.1562A>G (p.His521Arg)
c.1431A>G (n.1431A>G)
c.239A>G (p.His80Arg)
c.812A>G (p.His271Arg)
c.1490A>G (p.His497Arg)
c.1613A>G (p.His538Arg)
c.887A>G (p.His296Arg)
c.1493A>G (p.His498Arg)
n.2423+2601T>C
n.1852A>G
10g.18539468A>TCA376071923CACNB2,NSUN6c.1583A>T (p.His528Leu)
c.1448A>T (p.His483Leu)
c.1571A>T (p.His524Leu)
c.1643A>T (p.His548Leu)
c.1727A>T (p.His576Leu)
c.1565A>T (p.His522Leu)
c.1352A>T (p.His451Leu)
c.1529A>T (p.His510Leu)
c.*868A>T (n.*868A>T)
c.1469A>T (p.His490Leu)
c.*1001A>T (n.*1001A>T)
c.1284A>T (n.1284A>T)
c.*966A>T (n.*966A>T)
c.1547A>T (p.His516Leu)
c.*827A>T (n.*827A>T)
c.1655A>T (p.His552Leu)
c.977A>T (p.His326Leu)
c.1562A>T (p.His521Leu)
c.1431A>T (n.1431A>T)
c.239A>T (p.His80Leu)
c.812A>T (p.His271Leu)
c.1490A>T (p.His497Leu)
c.1613A>T (p.His538Leu)
c.887A>T (p.His296Leu)
c.1493A>T (p.His498Leu)
n.2423+2601T>A
n.1852A>T
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.18539469T>ACA376071925CACNB2,NSUN6c.1584T>A (p.His528Gln)
c.1449T>A (p.His483Gln)
c.1572T>A (p.His524Gln)
c.1644T>A (p.His548Gln)
c.1728T>A (p.His576Gln)
c.1566T>A (p.His522Gln)
c.1353T>A (p.His451Gln)
c.1530T>A (p.His510Gln)
c.*869T>A (n.*869T>A)
c.1470T>A (p.His490Gln)
c.*1002T>A (n.*1002T>A)
c.1285T>A (n.1285T>A)
c.*967T>A (n.*967T>A)
c.1548T>A (p.His516Gln)
c.*828T>A (n.*828T>A)
c.1656T>A (p.His552Gln)
c.978T>A (p.His326Gln)
c.1563T>A (p.His521Gln)
c.1432T>A (n.1432T>A)
c.240T>A (p.His80Gln)
c.813T>A (p.His271Gln)
c.1491T>A (p.His497Gln)
c.1614T>A (p.His538Gln)
c.888T>A (p.His296Gln)
c.1494T>A (p.His498Gln)
n.2423+2600A>T
n.1853T>A
10g.18539469T>CCA468629426CACNB2,NSUN6c.1584T>C (p.His528=)
c.1449T>C (p.His483=)
c.1572T>C (p.His524=)
c.1644T>C (p.His548=)
c.1728T>C (p.His576=)
c.1566T>C (p.His522=)
c.1353T>C (p.His451=)
c.1530T>C (p.His510=)
c.*869T>C (n.*869T>C)
c.1470T>C (p.His490=)
c.*1002T>C (n.*1002T>C)
c.1285T>C (n.1285T>C)
c.*967T>C (n.*967T>C)
c.1548T>C (p.His516=)
c.*828T>C (n.*828T>C)
c.1656T>C (p.His552=)
c.978T>C (p.His326=)
c.1563T>C (p.His521=)
c.1432T>C (n.1432T>C)
c.240T>C (p.His80=)
c.813T>C (p.His271=)
c.1491T>C (p.His497=)
c.1614T>C (p.His538=)
c.888T>C (p.His296=)
c.1494T>C (p.His498=)
n.2423+2600A>G
n.1853T>C
 gnomAD v4
10g.18539469T>GCA376071927CACNB2,NSUN6c.1584T>G (p.His528Gln)
c.1449T>G (p.His483Gln)
c.1572T>G (p.His524Gln)
c.1644T>G (p.His548Gln)
c.1728T>G (p.His576Gln)
c.1566T>G (p.His522Gln)
c.1353T>G (p.His451Gln)
c.1530T>G (p.His510Gln)
c.*869T>G (n.*869T>G)
c.1470T>G (p.His490Gln)
c.*1002T>G (n.*1002T>G)
c.1285T>G (n.1285T>G)
c.*967T>G (n.*967T>G)
c.1548T>G (p.His516Gln)
c.*828T>G (n.*828T>G)
c.1656T>G (p.His552Gln)
c.978T>G (p.His326Gln)
c.1563T>G (p.His521Gln)
c.1432T>G (n.1432T>G)
c.240T>G (p.His80Gln)
c.813T>G (p.His271Gln)
c.1491T>G (p.His497Gln)
c.1614T>G (p.His538Gln)
c.888T>G (p.His296Gln)
c.1494T>G (p.His498Gln)
n.2423+2600A>C
n.1853T>G
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.18539470G>ACA376071929CACNB2,NSUN6c.1585G>A (p.Asp529Asn)
c.1450G>A (p.Asp484Asn)
c.1573G>A (p.Asp525Asn)
c.1645G>A (p.Asp549Asn)
c.1729G>A (p.Asp577Asn)
c.1567G>A (p.Asp523Asn)
c.1354G>A (p.Asp452Asn)
c.1531G>A (p.Asp511Asn)
c.*870G>A (n.*870G>A)
c.1471G>A (p.Asp491Asn)
c.*1003G>A (n.*1003G>A)
c.1286G>A (n.1286G>A)
c.*968G>A (n.*968G>A)
c.1549G>A (p.Asp517Asn)
c.*829G>A (n.*829G>A)
c.1657G>A (p.Asp553Asn)
c.979G>A (p.Asp327Asn)
c.1564G>A (p.Asp522Asn)
c.1433G>A (n.1433G>A)
c.241G>A (p.Asp81Asn)
c.814G>A (p.Asp272Asn)
c.1492G>A (p.Asp498Asn)
c.1615G>A (p.Asp539Asn)
c.889G>A (p.Asp297Asn)
c.1495G>A (p.Asp499Asn)
n.2423+2599C>T
n.1854G>A
 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539470G>CCA376071930CACNB2,NSUN6c.1585G>C (p.Asp529His)
c.1450G>C (p.Asp484His)
c.1573G>C (p.Asp525His)
c.1645G>C (p.Asp549His)
c.1729G>C (p.Asp577His)
c.1567G>C (p.Asp523His)
c.1354G>C (p.Asp452His)
c.1531G>C (p.Asp511His)
c.*870G>C (n.*870G>C)
c.1471G>C (p.Asp491His)
c.*1003G>C (n.*1003G>C)
c.1286G>C (n.1286G>C)
c.*968G>C (n.*968G>C)
c.1549G>C (p.Asp517His)
c.*829G>C (n.*829G>C)
c.1657G>C (p.Asp553His)
c.979G>C (p.Asp327His)
c.1564G>C (p.Asp522His)
c.1433G>C (n.1433G>C)
c.241G>C (p.Asp81His)
c.814G>C (p.Asp272His)
c.1492G>C (p.Asp498His)
c.1615G>C (p.Asp539His)
c.889G>C (p.Asp297His)
c.1495G>C (p.Asp499His)
n.2423+2599C>G
n.1854G>C
 gnomAD v4
10g.18539470G>TCA376071932CACNB2,NSUN6c.1585G>T (p.Asp529Tyr)
c.1450G>T (p.Asp484Tyr)
c.1573G>T (p.Asp525Tyr)
c.1645G>T (p.Asp549Tyr)
c.1729G>T (p.Asp577Tyr)
c.1567G>T (p.Asp523Tyr)
c.1354G>T (p.Asp452Tyr)
c.1531G>T (p.Asp511Tyr)
c.*870G>T (n.*870G>T)
c.1471G>T (p.Asp491Tyr)
c.*1003G>T (n.*1003G>T)
c.1286G>T (n.1286G>T)
c.*968G>T (n.*968G>T)
c.1549G>T (p.Asp517Tyr)
c.*829G>T (n.*829G>T)
c.1657G>T (p.Asp553Tyr)
c.979G>T (p.Asp327Tyr)
c.1564G>T (p.Asp522Tyr)
c.1433G>T (n.1433G>T)
c.241G>T (p.Asp81Tyr)
c.814G>T (p.Asp272Tyr)
c.1492G>T (p.Asp498Tyr)
c.1615G>T (p.Asp539Tyr)
c.889G>T (p.Asp297Tyr)
c.1495G>T (p.Asp499Tyr)
n.2423+2599C>A
n.1854G>T
10g.18539471A>CCA376071934CACNB2,NSUN6c.1586A>C (p.Asp529Ala)
c.1451A>C (p.Asp484Ala)
c.1574A>C (p.Asp525Ala)
c.1646A>C (p.Asp549Ala)
c.1730A>C (p.Asp577Ala)
c.1568A>C (p.Asp523Ala)
c.1355A>C (p.Asp452Ala)
c.1532A>C (p.Asp511Ala)
c.*871A>C (n.*871A>C)
c.1472A>C (p.Asp491Ala)
c.*1004A>C (n.*1004A>C)
c.1287A>C (n.1287A>C)
c.*969A>C (n.*969A>C)
c.1550A>C (p.Asp517Ala)
c.*830A>C (n.*830A>C)
c.1658A>C (p.Asp553Ala)
c.980A>C (p.Asp327Ala)
c.1565A>C (p.Asp522Ala)
c.1434A>C (n.1434A>C)
c.242A>C (p.Asp81Ala)
c.815A>C (p.Asp272Ala)
c.1493A>C (p.Asp498Ala)
c.1616A>C (p.Asp539Ala)
c.890A>C (p.Asp297Ala)
c.1496A>C (p.Asp499Ala)
n.2423+2598T>G
n.1855A>C
10g.18539471A>GCA376071936CACNB2,NSUN6c.1586A>G (p.Asp529Gly)
c.1451A>G (p.Asp484Gly)
c.1574A>G (p.Asp525Gly)
c.1646A>G (p.Asp549Gly)
c.1730A>G (p.Asp577Gly)
c.1568A>G (p.Asp523Gly)
c.1355A>G (p.Asp452Gly)
c.1532A>G (p.Asp511Gly)
c.*871A>G (n.*871A>G)
c.1472A>G (p.Asp491Gly)
c.*1004A>G (n.*1004A>G)
c.1287A>G (n.1287A>G)
c.*969A>G (n.*969A>G)
c.1550A>G (p.Asp517Gly)
c.*830A>G (n.*830A>G)
c.1658A>G (p.Asp553Gly)
c.980A>G (p.Asp327Gly)
c.1565A>G (p.Asp522Gly)
c.1434A>G (n.1434A>G)
c.242A>G (p.Asp81Gly)
c.815A>G (p.Asp272Gly)
c.1493A>G (p.Asp498Gly)
c.1616A>G (p.Asp539Gly)
c.890A>G (p.Asp297Gly)
c.1496A>G (p.Asp499Gly)
n.2423+2598T>C
n.1855A>G
10g.18539471A>TCA376071933CACNB2,NSUN6c.1586A>T (p.Asp529Val)
c.1451A>T (p.Asp484Val)
c.1574A>T (p.Asp525Val)
c.1646A>T (p.Asp549Val)
c.1730A>T (p.Asp577Val)
c.1568A>T (p.Asp523Val)
c.1355A>T (p.Asp452Val)
c.1532A>T (p.Asp511Val)
c.*871A>T (n.*871A>T)
c.1472A>T (p.Asp491Val)
c.*1004A>T (n.*1004A>T)
c.1287A>T (n.1287A>T)
c.*969A>T (n.*969A>T)
c.1550A>T (p.Asp517Val)
c.*830A>T (n.*830A>T)
c.1658A>T (p.Asp553Val)
c.980A>T (p.Asp327Val)
c.1565A>T (p.Asp522Val)
c.1434A>T (n.1434A>T)
c.242A>T (p.Asp81Val)
c.815A>T (p.Asp272Val)
c.1493A>T (p.Asp498Val)
c.1616A>T (p.Asp539Val)
c.890A>T (p.Asp297Val)
c.1496A>T (p.Asp499Val)
n.2423+2598T>A
n.1855A>T
10g.18539472C>ACA376071937CACNB2,NSUN6c.1587C>A (p.Asp529Glu)
c.1452C>A (p.Asp484Glu)
c.1575C>A (p.Asp525Glu)
c.1647C>A (p.Asp549Glu)
c.1731C>A (p.Asp577Glu)
c.1569C>A (p.Asp523Glu)
c.1356C>A (p.Asp452Glu)
c.1533C>A (p.Asp511Glu)
c.*872C>A (n.*872C>A)
c.1473C>A (p.Asp491Glu)
c.*1005C>A (n.*1005C>A)
c.1288C>A (n.1288C>A)
c.*970C>A (n.*970C>A)
c.1551C>A (p.Asp517Glu)
c.*831C>A (n.*831C>A)
c.1659C>A (p.Asp553Glu)
c.981C>A (p.Asp327Glu)
c.1566C>A (p.Asp522Glu)
c.1435C>A (n.1435C>A)
c.243C>A (p.Asp81Glu)
c.816C>A (p.Asp272Glu)
c.1494C>A (p.Asp498Glu)
c.1617C>A (p.Asp539Glu)
c.891C>A (p.Asp297Glu)
c.1497C>A (p.Asp499Glu)
n.2423+2597G>T
n.1856C>A
10g.18539472C>GCA376071939CACNB2,NSUN6c.1587C>G (p.Asp529Glu)
c.1452C>G (p.Asp484Glu)
c.1575C>G (p.Asp525Glu)
c.1647C>G (p.Asp549Glu)
c.1731C>G (p.Asp577Glu)
c.1569C>G (p.Asp523Glu)
c.1356C>G (p.Asp452Glu)
c.1533C>G (p.Asp511Glu)
c.*872C>G (n.*872C>G)
c.1473C>G (p.Asp491Glu)
c.*1005C>G (n.*1005C>G)
c.1288C>G (n.1288C>G)
c.*970C>G (n.*970C>G)
c.1551C>G (p.Asp517Glu)
c.*831C>G (n.*831C>G)
c.1659C>G (p.Asp553Glu)
c.981C>G (p.Asp327Glu)
c.1566C>G (p.Asp522Glu)
c.1435C>G (n.1435C>G)
c.243C>G (p.Asp81Glu)
c.816C>G (p.Asp272Glu)
c.1494C>G (p.Asp498Glu)
c.1617C>G (p.Asp539Glu)
c.891C>G (p.Asp297Glu)
c.1497C>G (p.Asp499Glu)
n.2423+2597G>C
n.1856C>G
10g.18539472C>TCA468629458CACNB2,NSUN6c.1587C>T (p.Asp529=)
c.1452C>T (p.Asp484=)
c.1575C>T (p.Asp525=)
c.1647C>T (p.Asp549=)
c.1731C>T (p.Asp577=)
c.1569C>T (p.Asp523=)
c.1356C>T (p.Asp452=)
c.1533C>T (p.Asp511=)
c.*872C>T (n.*872C>T)
c.1473C>T (p.Asp491=)
c.*1005C>T (n.*1005C>T)
c.1288C>T (n.1288C>T)
c.*970C>T (n.*970C>T)
c.1551C>T (p.Asp517=)
c.*831C>T (n.*831C>T)
c.1659C>T (p.Asp553=)
c.981C>T (p.Asp327=)
c.1566C>T (p.Asp522=)
c.1435C>T (n.1435C>T)
c.243C>T (p.Asp81=)
c.816C>T (p.Asp272=)
c.1494C>T (p.Asp498=)
c.1617C>T (p.Asp539=)
c.891C>T (p.Asp297=)
c.1497C>T (p.Asp499=)
n.2423+2597G>A
n.1856C>T
 ClinVar
10g.18539473C>ACA376071941CACNB2,NSUN6c.1588C>A (p.His530Asn)
c.1453C>A (p.His485Asn)
c.1576C>A (p.His526Asn)
c.1648C>A (p.His550Asn)
c.1732C>A (p.His578Asn)
c.1570C>A (p.His524Asn)
c.1357C>A (p.His453Asn)
c.1534C>A (p.His512Asn)
c.*873C>A (n.*873C>A)
c.1474C>A (p.His492Asn)
c.*1006C>A (n.*1006C>A)
c.1289C>A (n.1289C>A)
c.*971C>A (n.*971C>A)
c.1552C>A (p.His518Asn)
c.*832C>A (n.*832C>A)
c.1660C>A (p.His554Asn)
c.982C>A (p.His328Asn)
c.1567C>A (p.His523Asn)
c.1436C>A (n.1436C>A)
c.244C>A (p.His82Asn)
c.817C>A (p.His273Asn)
c.1495C>A (p.His499Asn)
c.1618C>A (p.His540Asn)
c.892C>A (p.His298Asn)
c.1498C>A (p.His500Asn)
n.2423+2596G>T
n.1857C>A
10g.18539473C=CA1894173507CACNB2,NSUN6c.1588C= (p.His530=)
c.1453C= (p.His485=)
c.1576C= (p.His526=)
c.1648C= (p.His550=)
c.1732C= (p.His578=)
c.1570C= (p.His524=)
c.1357C= (p.His453=)
c.1534C= (p.His512=)
c.*873C= (n.*873C=)
c.1474C= (p.His492=)
c.*1006C= (n.*1006C=)
c.1289C= (n.1289C=)
c.*971C= (n.*971C=)
c.1552C= (p.His518=)
c.*832C= (n.*832C=)
c.1660C= (p.His554=)
c.982C= (p.His328=)
c.1567C= (p.His523=)
c.1436C= (n.1436C=)
c.244C= (p.His82=)
c.817C= (p.His273=)
c.1495C= (p.His499=)
c.1618C= (p.His540=)
c.892C= (p.His298=)
c.1498C= (p.His500=)
n.2423+2596G=
n.1857C=
10g.18539473C>GCA376071942CACNB2,NSUN6c.1588C>G (p.His530Asp)
c.1453C>G (p.His485Asp)
c.1576C>G (p.His526Asp)
c.1648C>G (p.His550Asp)
c.1732C>G (p.His578Asp)
c.1570C>G (p.His524Asp)
c.1357C>G (p.His453Asp)
c.1534C>G (p.His512Asp)
c.*873C>G (n.*873C>G)
c.1474C>G (p.His492Asp)
c.*1006C>G (n.*1006C>G)
c.1289C>G (n.1289C>G)
c.*971C>G (n.*971C>G)
c.1552C>G (p.His518Asp)
c.*832C>G (n.*832C>G)
c.1660C>G (p.His554Asp)
c.982C>G (p.His328Asp)
c.1567C>G (p.His523Asp)
c.1436C>G (n.1436C>G)
c.244C>G (p.His82Asp)
c.817C>G (p.His273Asp)
c.1495C>G (p.His499Asp)
c.1618C>G (p.His540Asp)
c.892C>G (p.His298Asp)
c.1498C>G (p.His500Asp)
n.2423+2596G>C
n.1857C>G
10g.18539473C>TCA376071944CACNB2,NSUN6c.1588C>T (p.His530Tyr)
c.1453C>T (p.His485Tyr)
c.1576C>T (p.His526Tyr)
c.1648C>T (p.His550Tyr)
c.1732C>T (p.His578Tyr)
c.1570C>T (p.His524Tyr)
c.1357C>T (p.His453Tyr)
c.1534C>T (p.His512Tyr)
c.*873C>T (n.*873C>T)
c.1474C>T (p.His492Tyr)
c.*1006C>T (n.*1006C>T)
c.1289C>T (n.1289C>T)
c.*971C>T (n.*971C>T)
c.1552C>T (p.His518Tyr)
c.*832C>T (n.*832C>T)
c.1660C>T (p.His554Tyr)
c.982C>T (p.His328Tyr)
c.1567C>T (p.His523Tyr)
c.1436C>T (n.1436C>T)
c.244C>T (p.His82Tyr)
c.817C>T (p.His273Tyr)
c.1495C>T (p.His499Tyr)
c.1618C>T (p.His540Tyr)
c.892C>T (p.His298Tyr)
c.1498C>T (p.His500Tyr)
n.2423+2596G>A
n.1857C>T
 dbSNP
10g.18539474A>CCA376071945CACNB2,NSUN6c.1589A>C (p.His530Pro)
c.1454A>C (p.His485Pro)
c.1577A>C (p.His526Pro)
c.1649A>C (p.His550Pro)
c.1733A>C (p.His578Pro)
c.1571A>C (p.His524Pro)
c.1358A>C (p.His453Pro)
c.1535A>C (p.His512Pro)
c.*874A>C (n.*874A>C)
c.1475A>C (p.His492Pro)
c.*1007A>C (n.*1007A>C)
c.1290A>C (n.1290A>C)
c.*972A>C (n.*972A>C)
c.1553A>C (p.His518Pro)
c.*833A>C (n.*833A>C)
c.1661A>C (p.His554Pro)
c.983A>C (p.His328Pro)
c.1568A>C (p.His523Pro)
c.1437A>C (n.1437A>C)
c.245A>C (p.His82Pro)
c.818A>C (p.His273Pro)
c.1496A>C (p.His499Pro)
c.1619A>C (p.His540Pro)
c.893A>C (p.His298Pro)
c.1499A>C (p.His500Pro)
n.2423+2595T>G
n.1858A>C
10g.18539474A>GCA376071946CACNB2,NSUN6c.1589A>G (p.His530Arg)
c.1454A>G (p.His485Arg)
c.1577A>G (p.His526Arg)
c.1649A>G (p.His550Arg)
c.1733A>G (p.His578Arg)
c.1571A>G (p.His524Arg)
c.1358A>G (p.His453Arg)
c.1535A>G (p.His512Arg)
c.*874A>G (n.*874A>G)
c.1475A>G (p.His492Arg)
c.*1007A>G (n.*1007A>G)
c.1290A>G (n.1290A>G)
c.*972A>G (n.*972A>G)
c.1553A>G (p.His518Arg)
c.*833A>G (n.*833A>G)
c.1661A>G (p.His554Arg)
c.983A>G (p.His328Arg)
c.1568A>G (p.His523Arg)
c.1437A>G (n.1437A>G)
c.245A>G (p.His82Arg)
c.818A>G (p.His273Arg)
c.1496A>G (p.His499Arg)
c.1619A>G (p.His540Arg)
c.893A>G (p.His298Arg)
c.1499A>G (p.His500Arg)
n.2423+2595T>C
n.1858A>G
10g.18539474A>TCA376071948CACNB2,NSUN6c.1589A>T (p.His530Leu)
c.1454A>T (p.His485Leu)
c.1577A>T (p.His526Leu)
c.1649A>T (p.His550Leu)
c.1733A>T (p.His578Leu)
c.1571A>T (p.His524Leu)
c.1358A>T (p.His453Leu)
c.1535A>T (p.His512Leu)
c.*874A>T (n.*874A>T)
c.1475A>T (p.His492Leu)
c.*1007A>T (n.*1007A>T)
c.1290A>T (n.1290A>T)
c.*972A>T (n.*972A>T)
c.1553A>T (p.His518Leu)
c.*833A>T (n.*833A>T)
c.1661A>T (p.His554Leu)
c.983A>T (p.His328Leu)
c.1568A>T (p.His523Leu)
c.1437A>T (n.1437A>T)
c.245A>T (p.His82Leu)
c.818A>T (p.His273Leu)
c.1496A>T (p.His499Leu)
c.1619A>T (p.His540Leu)
c.893A>T (p.His298Leu)
c.1499A>T (p.His500Leu)
n.2423+2595T>A
n.1858A>T
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.18539475C>ACA376071951CACNB2,NSUN6c.1590C>A (p.His530Gln)
c.1455C>A (p.His485Gln)
c.1578C>A (p.His526Gln)
c.1650C>A (p.His550Gln)
c.1734C>A (p.His578Gln)
c.1572C>A (p.His524Gln)
c.1359C>A (p.His453Gln)
c.1536C>A (p.His512Gln)
c.*875C>A (n.*875C>A)
c.1476C>A (p.His492Gln)
c.*1008C>A (n.*1008C>A)
c.1291C>A (n.1291C>A)
c.*973C>A (n.*973C>A)
c.1554C>A (p.His518Gln)
c.*834C>A (n.*834C>A)
c.1662C>A (p.His554Gln)
c.984C>A (p.His328Gln)
c.1569C>A (p.His523Gln)
c.1438C>A (n.1438C>A)
c.246C>A (p.His82Gln)
c.819C>A (p.His273Gln)
c.1497C>A (p.His499Gln)
c.1620C>A (p.His540Gln)
c.894C>A (p.His298Gln)
c.1500C>A (p.His500Gln)
n.2423+2594G>T
n.1859C>A
10g.18539475C=CA1894173510CACNB2,NSUN6c.1590C= (p.His530=)
c.1455C= (p.His485=)
c.1578C= (p.His526=)
c.1650C= (p.His550=)
c.1734C= (p.His578=)
c.1572C= (p.His524=)
c.1359C= (p.His453=)
c.1536C= (p.His512=)
c.*875C= (n.*875C=)
c.1476C= (p.His492=)
c.*1008C= (n.*1008C=)
c.1291C= (n.1291C=)
c.*973C= (n.*973C=)
c.1554C= (p.His518=)
c.*834C= (n.*834C=)
c.1662C= (p.His554=)
c.984C= (p.His328=)
c.1569C= (p.His523=)
c.1438C= (n.1438C=)
c.246C= (p.His82=)
c.819C= (p.His273=)
c.1497C= (p.His499=)
c.1620C= (p.His540=)
c.894C= (p.His298=)
c.1500C= (p.His500=)
n.2423+2594G=
n.1859C=
10g.18539475C>GCA376071953CACNB2,NSUN6c.1590C>G (p.His530Gln)
c.1455C>G (p.His485Gln)
c.1578C>G (p.His526Gln)
c.1650C>G (p.His550Gln)
c.1734C>G (p.His578Gln)
c.1572C>G (p.His524Gln)
c.1359C>G (p.His453Gln)
c.1536C>G (p.His512Gln)
c.*875C>G (n.*875C>G)
c.1476C>G (p.His492Gln)
c.*1008C>G (n.*1008C>G)
c.1291C>G (n.1291C>G)
c.*973C>G (n.*973C>G)
c.1554C>G (p.His518Gln)
c.*834C>G (n.*834C>G)
c.1662C>G (p.His554Gln)
c.984C>G (p.His328Gln)
c.1569C>G (p.His523Gln)
c.1438C>G (n.1438C>G)
c.246C>G (p.His82Gln)
c.819C>G (p.His273Gln)
c.1497C>G (p.His499Gln)
c.1620C>G (p.His540Gln)
c.894C>G (p.His298Gln)
c.1500C>G (p.His500Gln)
n.2423+2594G>C
n.1859C>G
10g.18539475C>TCA468629485CACNB2,NSUN6c.1590C>T (p.His530=)
c.1455C>T (p.His485=)
c.1578C>T (p.His526=)
c.1650C>T (p.His550=)
c.1734C>T (p.His578=)
c.1572C>T (p.His524=)
c.1359C>T (p.His453=)
c.1536C>T (p.His512=)
c.*875C>T (n.*875C>T)
c.1476C>T (p.His492=)
c.*1008C>T (n.*1008C>T)
c.1291C>T (n.1291C>T)
c.*973C>T (n.*973C>T)
c.1554C>T (p.His518=)
c.*834C>T (n.*834C>T)
c.1662C>T (p.His554=)
c.984C>T (p.His328=)
c.1569C>T (p.His523=)
c.1438C>T (n.1438C>T)
c.246C>T (p.His82=)
c.819C>T (p.His273=)
c.1497C>T (p.His499=)
c.1620C>T (p.His540=)
c.894C>T (p.His298=)
c.1500C>T (p.His500=)
n.2423+2594G>A
n.1859C>T
 ClinVar dbSNP gnomAD v4
10g.18539476G>ACA5430146CACNB2,NSUN6c.1591G>A (p.Val531Met)
c.1456G>A (p.Val486Met)
c.1579G>A (p.Val527Met)
c.1651G>A (p.Val551Met)
c.1735G>A (p.Val579Met)
c.1573G>A (p.Val525Met)
c.1360G>A (p.Val454Met)
c.1537G>A (p.Val513Met)
c.*876G>A (n.*876G>A)
c.1477G>A (p.Val493Met)
c.*1009G>A (n.*1009G>A)
c.1292G>A (n.1292G>A)
c.*974G>A (n.*974G>A)
c.1555G>A (p.Val519Met)
c.*835G>A (n.*835G>A)
c.1663G>A (p.Val555Met)
c.985G>A (p.Val329Met)
c.1570G>A (p.Val524Met)
c.1439G>A (n.1439G>A)
c.247G>A (p.Val83Met)
c.820G>A (p.Val274Met)
c.1498G>A (p.Val500Met)
c.1621G>A (p.Val541Met)
c.895G>A (p.Val299Met)
c.1501G>A (p.Val501Met)
n.2423+2593C>T
n.1860G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539476G>CCA5430147CACNB2,NSUN6c.1591G>C (p.Val531Leu)
c.1456G>C (p.Val486Leu)
c.1579G>C (p.Val527Leu)
c.1651G>C (p.Val551Leu)
c.1735G>C (p.Val579Leu)
c.1573G>C (p.Val525Leu)
c.1360G>C (p.Val454Leu)
c.1537G>C (p.Val513Leu)
c.*876G>C (n.*876G>C)
c.1477G>C (p.Val493Leu)
c.*1009G>C (n.*1009G>C)
c.1292G>C (n.1292G>C)
c.*974G>C (n.*974G>C)
c.1555G>C (p.Val519Leu)
c.*835G>C (n.*835G>C)
c.1663G>C (p.Val555Leu)
c.985G>C (p.Val329Leu)
c.1570G>C (p.Val524Leu)
c.1439G>C (n.1439G>C)
c.247G>C (p.Val83Leu)
c.820G>C (p.Val274Leu)
c.1498G>C (p.Val500Leu)
c.1621G>C (p.Val541Leu)
c.895G>C (p.Val299Leu)
c.1501G>C (p.Val501Leu)
n.2423+2593C>G
n.1860G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539476G=CA1894173515CACNB2,NSUN6c.1591G= (p.Val531=)
c.1456G= (p.Val486=)
c.1579G= (p.Val527=)
c.1651G= (p.Val551=)
c.1735G= (p.Val579=)
c.1573G= (p.Val525=)
c.1360G= (p.Val454=)
c.1537G= (p.Val513=)
c.*876G= (n.*876G=)
c.1477G= (p.Val493=)
c.*1009G= (n.*1009G=)
c.1292G= (n.1292G=)
c.*974G= (n.*974G=)
c.1555G= (p.Val519=)
c.*835G= (n.*835G=)
c.1663G= (p.Val555=)
c.985G= (p.Val329=)
c.1570G= (p.Val524=)
c.1439G= (n.1439G=)
c.247G= (p.Val83=)
c.820G= (p.Val274=)
c.1498G= (p.Val500=)
c.1621G= (p.Val541=)
c.895G= (p.Val299=)
c.1501G= (p.Val501=)
n.2423+2593C=
n.1860G=
10g.18539476G>TCA376071956CACNB2,NSUN6c.1591G>T (p.Val531Leu)
c.1456G>T (p.Val486Leu)
c.1579G>T (p.Val527Leu)
c.1651G>T (p.Val551Leu)
c.1735G>T (p.Val579Leu)
c.1573G>T (p.Val525Leu)
c.1360G>T (p.Val454Leu)
c.1537G>T (p.Val513Leu)
c.*876G>T (n.*876G>T)
c.1477G>T (p.Val493Leu)
c.*1009G>T (n.*1009G>T)
c.1292G>T (n.1292G>T)
c.*974G>T (n.*974G>T)
c.1555G>T (p.Val519Leu)
c.*835G>T (n.*835G>T)
c.1663G>T (p.Val555Leu)
c.985G>T (p.Val329Leu)
c.1570G>T (p.Val524Leu)
c.1439G>T (n.1439G>T)
c.247G>T (p.Val83Leu)
c.820G>T (p.Val274Leu)
c.1498G>T (p.Val500Leu)
c.1621G>T (p.Val541Leu)
c.895G>T (p.Val299Leu)
c.1501G>T (p.Val501Leu)
n.2423+2593C>A
n.1860G>T
10g.18539477T>ACA376071961CACNB2,NSUN6c.1592T>A (p.Val531Glu)
c.1457T>A (p.Val486Glu)
c.1580T>A (p.Val527Glu)
c.1652T>A (p.Val551Glu)
c.1736T>A (p.Val579Glu)
c.1574T>A (p.Val525Glu)
c.1361T>A (p.Val454Glu)
c.1538T>A (p.Val513Glu)
c.*877T>A (n.*877T>A)
c.1478T>A (p.Val493Glu)
c.*1010T>A (n.*1010T>A)
c.1293T>A (n.1293T>A)
c.*975T>A (n.*975T>A)
c.1556T>A (p.Val519Glu)
c.*836T>A (n.*836T>A)
c.1664T>A (p.Val555Glu)
c.986T>A (p.Val329Glu)
c.1571T>A (p.Val524Glu)
c.1440T>A (n.1440T>A)
c.248T>A (p.Val83Glu)
c.821T>A (p.Val274Glu)
c.1499T>A (p.Val500Glu)
c.1622T>A (p.Val541Glu)
c.896T>A (p.Val299Glu)
c.1502T>A (p.Val501Glu)
n.2423+2592A>T
n.1861T>A
10g.18539477T>CCA376071959CACNB2,NSUN6c.1592T>C (p.Val531Ala)
c.1457T>C (p.Val486Ala)
c.1580T>C (p.Val527Ala)
c.1652T>C (p.Val551Ala)
c.1736T>C (p.Val579Ala)
c.1574T>C (p.Val525Ala)
c.1361T>C (p.Val454Ala)
c.1538T>C (p.Val513Ala)
c.*877T>C (n.*877T>C)
c.1478T>C (p.Val493Ala)
c.*1010T>C (n.*1010T>C)
c.1293T>C (n.1293T>C)
c.*975T>C (n.*975T>C)
c.1556T>C (p.Val519Ala)
c.*836T>C (n.*836T>C)
c.1664T>C (p.Val555Ala)
c.986T>C (p.Val329Ala)
c.1571T>C (p.Val524Ala)
c.1440T>C (n.1440T>C)
c.248T>C (p.Val83Ala)
c.821T>C (p.Val274Ala)
c.1499T>C (p.Val500Ala)
c.1622T>C (p.Val541Ala)
c.896T>C (p.Val299Ala)
c.1502T>C (p.Val501Ala)
n.2423+2592A>G
n.1861T>C
10g.18539477T>GCA5430148CACNB2,NSUN6c.1592T>G (p.Val531Gly)
c.1457T>G (p.Val486Gly)
c.1580T>G (p.Val527Gly)
c.1652T>G (p.Val551Gly)
c.1736T>G (p.Val579Gly)
c.1574T>G (p.Val525Gly)
c.1361T>G (p.Val454Gly)
c.1538T>G (p.Val513Gly)
c.*877T>G (n.*877T>G)
c.1478T>G (p.Val493Gly)
c.*1010T>G (n.*1010T>G)
c.1293T>G (n.1293T>G)
c.*975T>G (n.*975T>G)
c.1556T>G (p.Val519Gly)
c.*836T>G (n.*836T>G)
c.1664T>G (p.Val555Gly)
c.986T>G (p.Val329Gly)
c.1571T>G (p.Val524Gly)
c.1440T>G (n.1440T>G)
c.248T>G (p.Val83Gly)
c.821T>G (p.Val274Gly)
c.1499T>G (p.Val500Gly)
c.1622T>G (p.Val541Gly)
c.896T>G (p.Val299Gly)
c.1502T>G (p.Val501Gly)
n.2423+2592A>C
n.1861T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539477T=CA1894173526CACNB2,NSUN6c.1592T= (p.Val531=)
c.1457T= (p.Val486=)
c.1580T= (p.Val527=)
c.1652T= (p.Val551=)
c.1736T= (p.Val579=)
c.1574T= (p.Val525=)
c.1361T= (p.Val454=)
c.1538T= (p.Val513=)
c.*877T= (n.*877T=)
c.1478T= (p.Val493=)
c.*1010T= (n.*1010T=)
c.1293T= (n.1293T=)
c.*975T= (n.*975T=)
c.1556T= (p.Val519=)
c.*836T= (n.*836T=)
c.1664T= (p.Val555=)
c.986T= (p.Val329=)
c.1571T= (p.Val524=)
c.1440T= (n.1440T=)
c.248T= (p.Val83=)
c.821T= (p.Val274=)
c.1499T= (p.Val500=)
c.1622T= (p.Val541=)
c.896T= (p.Val299=)
c.1502T= (p.Val501=)
n.2423+2592A=
n.1861T=
10g.18539478G>ACA468629503CACNB2,NSUN6c.1593G>A (p.Val531=)
c.1458G>A (p.Val486=)
c.1581G>A (p.Val527=)
c.1653G>A (p.Val551=)
c.1737G>A (p.Val579=)
c.1575G>A (p.Val525=)
c.1362G>A (p.Val454=)
c.1539G>A (p.Val513=)
c.*878G>A (n.*878G>A)
c.1479G>A (p.Val493=)
c.*1011G>A (n.*1011G>A)
c.1294G>A (n.1294G>A)
c.*976G>A (n.*976G>A)
c.1557G>A (p.Val519=)
c.*837G>A (n.*837G>A)
c.1665G>A (p.Val555=)
c.987G>A (p.Val329=)
c.1572G>A (p.Val524=)
c.1441G>A (n.1441G>A)
c.249G>A (p.Val83=)
c.822G>A (p.Val274=)
c.1500G>A (p.Val500=)
c.1623G>A (p.Val541=)
c.897G>A (p.Val299=)
c.1503G>A (p.Val501=)
n.2423+2591C>T
n.1862G>A
10g.18539478G>CCA468629508CACNB2,NSUN6c.1593G>C (p.Val531=)
c.1458G>C (p.Val486=)
c.1581G>C (p.Val527=)
c.1653G>C (p.Val551=)
c.1737G>C (p.Val579=)
c.1575G>C (p.Val525=)
c.1362G>C (p.Val454=)
c.1539G>C (p.Val513=)
c.*878G>C (n.*878G>C)
c.1479G>C (p.Val493=)
c.*1011G>C (n.*1011G>C)
c.1294G>C (n.1294G>C)
c.*976G>C (n.*976G>C)
c.1557G>C (p.Val519=)
c.*837G>C (n.*837G>C)
c.1665G>C (p.Val555=)
c.987G>C (p.Val329=)
c.1572G>C (p.Val524=)
c.1441G>C (n.1441G>C)
c.249G>C (p.Val83=)
c.822G>C (p.Val274=)
c.1500G>C (p.Val500=)
c.1623G>C (p.Val541=)
c.897G>C (p.Val299=)
c.1503G>C (p.Val501=)
n.2423+2591C>G
n.1862G>C
10g.18539478G>TCA468629511CACNB2,NSUN6c.1593G>T (p.Val531=)
c.1458G>T (p.Val486=)
c.1581G>T (p.Val527=)
c.1653G>T (p.Val551=)
c.1737G>T (p.Val579=)
c.1575G>T (p.Val525=)
c.1362G>T (p.Val454=)
c.1539G>T (p.Val513=)
c.*878G>T (n.*878G>T)
c.1479G>T (p.Val493=)
c.*1011G>T (n.*1011G>T)
c.1294G>T (n.1294G>T)
c.*976G>T (n.*976G>T)
c.1557G>T (p.Val519=)
c.*837G>T (n.*837G>T)
c.1665G>T (p.Val555=)
c.987G>T (p.Val329=)
c.1572G>T (p.Val524=)
c.1441G>T (n.1441G>T)
c.249G>T (p.Val83=)
c.822G>T (p.Val274=)
c.1500G>T (p.Val500=)
c.1623G>T (p.Val541=)
c.897G>T (p.Val299=)
c.1503G>T (p.Val501=)
n.2423+2591C>A
n.1862G>T
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.18539479G>ACA376071962CACNB2,NSUN6c.1594G>A (p.Asp532Asn)
c.1459G>A (p.Asp487Asn)
c.1582G>A (p.Asp528Asn)
c.1654G>A (p.Asp552Asn)
c.1738G>A (p.Asp580Asn)
c.1576G>A (p.Asp526Asn)
c.1363G>A (p.Asp455Asn)
c.1540G>A (p.Asp514Asn)
c.*879G>A (n.*879G>A)
c.1480G>A (p.Asp494Asn)
c.*1012G>A (n.*1012G>A)
c.1295G>A (n.1295G>A)
c.*977G>A (n.*977G>A)
c.1558G>A (p.Asp520Asn)
c.*838G>A (n.*838G>A)
c.1666G>A (p.Asp556Asn)
c.988G>A (p.Asp330Asn)
c.1573G>A (p.Asp525Asn)
c.1442G>A (n.1442G>A)
c.250G>A (p.Asp84Asn)
c.823G>A (p.Asp275Asn)
c.1501G>A (p.Asp501Asn)
c.1624G>A (p.Asp542Asn)
c.898G>A (p.Asp300Asn)
c.1504G>A (p.Asp502Asn)
n.2423+2590C>T
n.1863G>A
10g.18539479G>CCA376071964CACNB2,NSUN6c.1594G>C (p.Asp532His)
c.1459G>C (p.Asp487His)
c.1582G>C (p.Asp528His)
c.1654G>C (p.Asp552His)
c.1738G>C (p.Asp580His)
c.1576G>C (p.Asp526His)
c.1363G>C (p.Asp455His)
c.1540G>C (p.Asp514His)
c.*879G>C (n.*879G>C)
c.1480G>C (p.Asp494His)
c.*1012G>C (n.*1012G>C)
c.1295G>C (n.1295G>C)
c.*977G>C (n.*977G>C)
c.1558G>C (p.Asp520His)
c.*838G>C (n.*838G>C)
c.1666G>C (p.Asp556His)
c.988G>C (p.Asp330His)
c.1573G>C (p.Asp525His)
c.1442G>C (n.1442G>C)
c.250G>C (p.Asp84His)
c.823G>C (p.Asp275His)
c.1501G>C (p.Asp501His)
c.1624G>C (p.Asp542His)
c.898G>C (p.Asp300His)
c.1504G>C (p.Asp502His)
n.2423+2590C>G
n.1863G>C
10g.18539479G>TCA376071965CACNB2,NSUN6c.1594G>T (p.Asp532Tyr)
c.1459G>T (p.Asp487Tyr)
c.1582G>T (p.Asp528Tyr)
c.1654G>T (p.Asp552Tyr)
c.1738G>T (p.Asp580Tyr)
c.1576G>T (p.Asp526Tyr)
c.1363G>T (p.Asp455Tyr)
c.1540G>T (p.Asp514Tyr)
c.*879G>T (n.*879G>T)
c.1480G>T (p.Asp494Tyr)
c.*1012G>T (n.*1012G>T)
c.1295G>T (n.1295G>T)
c.*977G>T (n.*977G>T)
c.1558G>T (p.Asp520Tyr)
c.*838G>T (n.*838G>T)
c.1666G>T (p.Asp556Tyr)
c.988G>T (p.Asp330Tyr)
c.1573G>T (p.Asp525Tyr)
c.1442G>T (n.1442G>T)
c.250G>T (p.Asp84Tyr)
c.823G>T (p.Asp275Tyr)
c.1501G>T (p.Asp501Tyr)
c.1624G>T (p.Asp542Tyr)
c.898G>T (p.Asp300Tyr)
c.1504G>T (p.Asp502Tyr)
n.2423+2590C>A
n.1863G>T
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.18539480A=CA1894173540CACNB2,NSUN6c.1595A= (p.Asp532=)
c.1460A= (p.Asp487=)
c.1583A= (p.Asp528=)
c.1655A= (p.Asp552=)
c.1739A= (p.Asp580=)
c.1577A= (p.Asp526=)
c.1364A= (p.Asp455=)
c.1541A= (p.Asp514=)
c.*880A= (n.*880A=)
c.1481A= (p.Asp494=)
c.*1013A= (n.*1013A=)
c.1296A= (n.1296A=)
c.*978A= (n.*978A=)
c.1559A= (p.Asp520=)
c.*839A= (n.*839A=)
c.1667A= (p.Asp556=)
c.989A= (p.Asp330=)
c.1574A= (p.Asp525=)
c.1443A= (n.1443A=)
c.251A= (p.Asp84=)
c.824A= (p.Asp275=)
c.1502A= (p.Asp501=)
c.1625A= (p.Asp542=)
c.899A= (p.Asp300=)
c.1505A= (p.Asp502=)
n.2423+2589T=
n.1864A=
10g.18539480A>CCA376071968CACNB2,NSUN6c.1595A>C (p.Asp532Ala)
c.1460A>C (p.Asp487Ala)
c.1583A>C (p.Asp528Ala)
c.1655A>C (p.Asp552Ala)
c.1739A>C (p.Asp580Ala)
c.1577A>C (p.Asp526Ala)
c.1364A>C (p.Asp455Ala)
c.1541A>C (p.Asp514Ala)
c.*880A>C (n.*880A>C)
c.1481A>C (p.Asp494Ala)
c.*1013A>C (n.*1013A>C)
c.1296A>C (n.1296A>C)
c.*978A>C (n.*978A>C)
c.1559A>C (p.Asp520Ala)
c.*839A>C (n.*839A>C)
c.1667A>C (p.Asp556Ala)
c.989A>C (p.Asp330Ala)
c.1574A>C (p.Asp525Ala)
c.1443A>C (n.1443A>C)
c.251A>C (p.Asp84Ala)
c.824A>C (p.Asp275Ala)
c.1502A>C (p.Asp501Ala)
c.1625A>C (p.Asp542Ala)
c.899A>C (p.Asp300Ala)
c.1505A>C (p.Asp502Ala)
n.2423+2589T>G
n.1864A>C
10g.18539480A>GCA5430149CACNB2,NSUN6c.1595A>G (p.Asp532Gly)
c.1460A>G (p.Asp487Gly)
c.1583A>G (p.Asp528Gly)
c.1655A>G (p.Asp552Gly)
c.1739A>G (p.Asp580Gly)
c.1577A>G (p.Asp526Gly)
c.1364A>G (p.Asp455Gly)
c.1541A>G (p.Asp514Gly)
c.*880A>G (n.*880A>G)
c.1481A>G (p.Asp494Gly)
c.*1013A>G (n.*1013A>G)
c.1296A>G (n.1296A>G)
c.*978A>G (n.*978A>G)
c.1559A>G (p.Asp520Gly)
c.*839A>G (n.*839A>G)
c.1667A>G (p.Asp556Gly)
c.989A>G (p.Asp330Gly)
c.1574A>G (p.Asp525Gly)
c.1443A>G (n.1443A>G)
c.251A>G (p.Asp84Gly)
c.824A>G (p.Asp275Gly)
c.1502A>G (p.Asp501Gly)
c.1625A>G (p.Asp542Gly)
c.899A>G (p.Asp300Gly)
c.1505A>G (p.Asp502Gly)
n.2423+2589T>C
n.1864A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539480A>TCA376071970CACNB2,NSUN6c.1595A>T (p.Asp532Val)
c.1460A>T (p.Asp487Val)
c.1583A>T (p.Asp528Val)
c.1655A>T (p.Asp552Val)
c.1739A>T (p.Asp580Val)
c.1577A>T (p.Asp526Val)
c.1364A>T (p.Asp455Val)
c.1541A>T (p.Asp514Val)
c.*880A>T (n.*880A>T)
c.1481A>T (p.Asp494Val)
c.*1013A>T (n.*1013A>T)
c.1296A>T (n.1296A>T)
c.*978A>T (n.*978A>T)
c.1559A>T (p.Asp520Val)
c.*839A>T (n.*839A>T)
c.1667A>T (p.Asp556Val)
c.989A>T (p.Asp330Val)
c.1574A>T (p.Asp525Val)
c.1443A>T (n.1443A>T)
c.251A>T (p.Asp84Val)
c.824A>T (p.Asp275Val)
c.1502A>T (p.Asp501Val)
c.1625A>T (p.Asp542Val)
c.899A>T (p.Asp300Val)
c.1505A>T (p.Asp502Val)
n.2423+2589T>A
n.1864A>T
10g.18539481C>ACA376071971CACNB2,NSUN6c.1596C>A (p.Asp532Glu)
c.1461C>A (p.Asp487Glu)
c.1584C>A (p.Asp528Glu)
c.1656C>A (p.Asp552Glu)
c.1740C>A (p.Asp580Glu)
c.1578C>A (p.Asp526Glu)
c.1365C>A (p.Asp455Glu)
c.1542C>A (p.Asp514Glu)
c.*881C>A (n.*881C>A)
c.1482C>A (p.Asp494Glu)
c.*1014C>A (n.*1014C>A)
c.1297C>A (n.1297C>A)
c.*979C>A (n.*979C>A)
c.1560C>A (p.Asp520Glu)
c.*840C>A (n.*840C>A)
c.1668C>A (p.Asp556Glu)
c.990C>A (p.Asp330Glu)
c.1575C>A (p.Asp525Glu)
c.1444C>A (n.1444C>A)
c.252C>A (p.Asp84Glu)
c.825C>A (p.Asp275Glu)
c.1503C>A (p.Asp501Glu)
c.1626C>A (p.Asp542Glu)
c.900C>A (p.Asp300Glu)
c.1506C>A (p.Asp502Glu)
n.2423+2588G>T
n.1865C>A
 dbSNP gnomAD v4
10g.18539481C=CA1894173544CACNB2,NSUN6c.1596C= (p.Asp532=)
c.1461C= (p.Asp487=)
c.1584C= (p.Asp528=)
c.1656C= (p.Asp552=)
c.1740C= (p.Asp580=)
c.1578C= (p.Asp526=)
c.1365C= (p.Asp455=)
c.1542C= (p.Asp514=)
c.*881C= (n.*881C=)
c.1482C= (p.Asp494=)
c.*1014C= (n.*1014C=)
c.1297C= (n.1297C=)
c.*979C= (n.*979C=)
c.1560C= (p.Asp520=)
c.*840C= (n.*840C=)
c.1668C= (p.Asp556=)
c.990C= (p.Asp330=)
c.1575C= (p.Asp525=)
c.1444C= (n.1444C=)
c.252C= (p.Asp84=)
c.825C= (p.Asp275=)
c.1503C= (p.Asp501=)
c.1626C= (p.Asp542=)
c.900C= (p.Asp300=)
c.1506C= (p.Asp502=)
n.2423+2588G=
n.1865C=
10g.18539481C>GCA376071973CACNB2,NSUN6c.1596C>G (p.Asp532Glu)
c.1461C>G (p.Asp487Glu)
c.1584C>G (p.Asp528Glu)
c.1656C>G (p.Asp552Glu)
c.1740C>G (p.Asp580Glu)
c.1578C>G (p.Asp526Glu)
c.1365C>G (p.Asp455Glu)
c.1542C>G (p.Asp514Glu)
c.*881C>G (n.*881C>G)
c.1482C>G (p.Asp494Glu)
c.*1014C>G (n.*1014C>G)
c.1297C>G (n.1297C>G)
c.*979C>G (n.*979C>G)
c.1560C>G (p.Asp520Glu)
c.*840C>G (n.*840C>G)
c.1668C>G (p.Asp556Glu)
c.990C>G (p.Asp330Glu)
c.1575C>G (p.Asp525Glu)
c.1444C>G (n.1444C>G)
c.252C>G (p.Asp84Glu)
c.825C>G (p.Asp275Glu)
c.1503C>G (p.Asp501Glu)
c.1626C>G (p.Asp542Glu)
c.900C>G (p.Asp300Glu)
c.1506C>G (p.Asp502Glu)
n.2423+2588G>C
n.1865C>G
10g.18539481C>TCA468629539CACNB2,NSUN6c.1596C>T (p.Asp532=)
c.1461C>T (p.Asp487=)
c.1584C>T (p.Asp528=)
c.1656C>T (p.Asp552=)
c.1740C>T (p.Asp580=)
c.1578C>T (p.Asp526=)
c.1365C>T (p.Asp455=)
c.1542C>T (p.Asp514=)
c.*881C>T (n.*881C>T)
c.1482C>T (p.Asp494=)
c.*1014C>T (n.*1014C>T)
c.1297C>T (n.1297C>T)
c.*979C>T (n.*979C>T)
c.1560C>T (p.Asp520=)
c.*840C>T (n.*840C>T)
c.1668C>T (p.Asp556=)
c.990C>T (p.Asp330=)
c.1575C>T (p.Asp525=)
c.1444C>T (n.1444C>T)
c.252C>T (p.Asp84=)
c.825C>T (p.Asp275=)
c.1503C>T (p.Asp501=)
c.1626C>T (p.Asp542=)
c.900C>T (p.Asp300=)
c.1506C>T (p.Asp502=)
n.2423+2588G>A
n.1865C>T
10g.18539482C>ACA376071974CACNB2,NSUN6c.1597C>A (p.His533Asn)
c.1462C>A (p.His488Asn)
c.1585C>A (p.His529Asn)
c.1657C>A (p.His553Asn)
c.1741C>A (p.His581Asn)
c.1579C>A (p.His527Asn)
c.1366C>A (p.His456Asn)
c.1543C>A (p.His515Asn)
c.*882C>A (n.*882C>A)
c.1483C>A (p.His495Asn)
c.*1015C>A (n.*1015C>A)
c.1298C>A (n.1298C>A)
c.*980C>A (n.*980C>A)
c.1561C>A (p.His521Asn)
c.*841C>A (n.*841C>A)
c.1669C>A (p.His557Asn)
c.991C>A (p.His331Asn)
c.1576C>A (p.His526Asn)
c.1445C>A (n.1445C>A)
c.253C>A (p.His85Asn)
c.826C>A (p.His276Asn)
c.1504C>A (p.His502Asn)
c.1627C>A (p.His543Asn)
c.901C>A (p.His301Asn)
c.1507C>A (p.His503Asn)
n.2423+2587G>T
n.1866C>A
 gnomAD v4
10g.18539482C=CA1894173550CACNB2,NSUN6c.1597C= (p.His533=)
c.1462C= (p.His488=)
c.1585C= (p.His529=)
c.1657C= (p.His553=)
c.1741C= (p.His581=)
c.1579C= (p.His527=)
c.1366C= (p.His456=)
c.1543C= (p.His515=)
c.*882C= (n.*882C=)
c.1483C= (p.His495=)
c.*1015C= (n.*1015C=)
c.1298C= (n.1298C=)
c.*980C= (n.*980C=)
c.1561C= (p.His521=)
c.*841C= (n.*841C=)
c.1669C= (p.His557=)
c.991C= (p.His331=)
c.1576C= (p.His526=)
c.1445C= (n.1445C=)
c.253C= (p.His85=)
c.826C= (p.His276=)
c.1504C= (p.His502=)
c.1627C= (p.His543=)
c.901C= (p.His301=)
c.1507C= (p.His503=)
n.2423+2587G=
n.1866C=
10g.18539482C>GCA5430150CACNB2,NSUN6c.1597C>G (p.His533Asp)
c.1462C>G (p.His488Asp)
c.1585C>G (p.His529Asp)
c.1657C>G (p.His553Asp)
c.1741C>G (p.His581Asp)
c.1579C>G (p.His527Asp)
c.1366C>G (p.His456Asp)
c.1543C>G (p.His515Asp)
c.*882C>G (n.*882C>G)
c.1483C>G (p.His495Asp)
c.*1015C>G (n.*1015C>G)
c.1298C>G (n.1298C>G)
c.*980C>G (n.*980C>G)
c.1561C>G (p.His521Asp)
c.*841C>G (n.*841C>G)
c.1669C>G (p.His557Asp)
c.991C>G (p.His331Asp)
c.1576C>G (p.His526Asp)
c.1445C>G (n.1445C>G)
c.253C>G (p.His85Asp)
c.826C>G (p.His276Asp)
c.1504C>G (p.His502Asp)
c.1627C>G (p.His543Asp)
c.901C>G (p.His301Asp)
c.1507C>G (p.His503Asp)
n.2423+2587G>C
n.1866C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539482C>TCA376071976CACNB2,NSUN6c.1597C>T (p.His533Tyr)
c.1462C>T (p.His488Tyr)
c.1585C>T (p.His529Tyr)
c.1657C>T (p.His553Tyr)
c.1741C>T (p.His581Tyr)
c.1579C>T (p.His527Tyr)
c.1366C>T (p.His456Tyr)
c.1543C>T (p.His515Tyr)
c.*882C>T (n.*882C>T)
c.1483C>T (p.His495Tyr)
c.*1015C>T (n.*1015C>T)
c.1298C>T (n.1298C>T)
c.*980C>T (n.*980C>T)
c.1561C>T (p.His521Tyr)
c.*841C>T (n.*841C>T)
c.1669C>T (p.His557Tyr)
c.991C>T (p.His331Tyr)
c.1576C>T (p.His526Tyr)
c.1445C>T (n.1445C>T)
c.253C>T (p.His85Tyr)
c.826C>T (p.His276Tyr)
c.1504C>T (p.His502Tyr)
c.1627C>T (p.His543Tyr)
c.901C>T (p.His301Tyr)
c.1507C>T (p.His503Tyr)
n.2423+2587G>A
n.1866C>T
10g.18539483A>CCA376071978CACNB2,NSUN6c.1598A>C (p.His533Pro)
c.1463A>C (p.His488Pro)
c.1586A>C (p.His529Pro)
c.1658A>C (p.His553Pro)
c.1742A>C (p.His581Pro)
c.1580A>C (p.His527Pro)
c.1367A>C (p.His456Pro)
c.1544A>C (p.His515Pro)
c.*883A>C (n.*883A>C)
c.1484A>C (p.His495Pro)
c.*1016A>C (n.*1016A>C)
c.1299A>C (n.1299A>C)
c.*981A>C (n.*981A>C)
c.1562A>C (p.His521Pro)
c.*842A>C (n.*842A>C)
c.1670A>C (p.His557Pro)
c.992A>C (p.His331Pro)
c.1577A>C (p.His526Pro)
c.1446A>C (n.1446A>C)
c.254A>C (p.His85Pro)
c.827A>C (p.His276Pro)
c.1505A>C (p.His502Pro)
c.1628A>C (p.His543Pro)
c.902A>C (p.His301Pro)
c.1508A>C (p.His503Pro)
n.2423+2586T>G
n.1867A>C
 gnomAD v4
10g.18539483A>GCA376071980CACNB2,NSUN6c.1598A>G (p.His533Arg)
c.1463A>G (p.His488Arg)
c.1586A>G (p.His529Arg)
c.1658A>G (p.His553Arg)
c.1742A>G (p.His581Arg)
c.1580A>G (p.His527Arg)
c.1367A>G (p.His456Arg)
c.1544A>G (p.His515Arg)
c.*883A>G (n.*883A>G)
c.1484A>G (p.His495Arg)
c.*1016A>G (n.*1016A>G)
c.1299A>G (n.1299A>G)
c.*981A>G (n.*981A>G)
c.1562A>G (p.His521Arg)
c.*842A>G (n.*842A>G)
c.1670A>G (p.His557Arg)
c.992A>G (p.His331Arg)
c.1577A>G (p.His526Arg)
c.1446A>G (n.1446A>G)
c.254A>G (p.His85Arg)
c.827A>G (p.His276Arg)
c.1505A>G (p.His502Arg)
c.1628A>G (p.His543Arg)
c.902A>G (p.His301Arg)
c.1508A>G (p.His503Arg)
n.2423+2586T>C
n.1867A>G
10g.18539483A>TCA376071981CACNB2,NSUN6c.1598A>T (p.His533Leu)
c.1463A>T (p.His488Leu)
c.1586A>T (p.His529Leu)
c.1658A>T (p.His553Leu)
c.1742A>T (p.His581Leu)
c.1580A>T (p.His527Leu)
c.1367A>T (p.His456Leu)
c.1544A>T (p.His515Leu)
c.*883A>T (n.*883A>T)
c.1484A>T (p.His495Leu)
c.*1016A>T (n.*1016A>T)
c.1299A>T (n.1299A>T)
c.*981A>T (n.*981A>T)
c.1562A>T (p.His521Leu)
c.*842A>T (n.*842A>T)
c.1670A>T (p.His557Leu)
c.992A>T (p.His331Leu)
c.1577A>T (p.His526Leu)
c.1446A>T (n.1446A>T)
c.254A>T (p.His85Leu)
c.827A>T (p.His276Leu)
c.1505A>T (p.His502Leu)
c.1628A>T (p.His543Leu)
c.902A>T (p.His301Leu)
c.1508A>T (p.His503Leu)
n.2423+2586T>A
n.1867A>T
10g.18539484C>ACA376071983CACNB2,NSUN6c.1599C>A (p.His533Gln)
c.1464C>A (p.His488Gln)
c.1587C>A (p.His529Gln)
c.1659C>A (p.His553Gln)
c.1743C>A (p.His581Gln)
c.1581C>A (p.His527Gln)
c.1368C>A (p.His456Gln)
c.1545C>A (p.His515Gln)
c.*884C>A (n.*884C>A)
c.1485C>A (p.His495Gln)
c.*1017C>A (n.*1017C>A)
c.1300C>A (n.1300C>A)
c.*982C>A (n.*982C>A)
c.1563C>A (p.His521Gln)
c.*843C>A (n.*843C>A)
c.1671C>A (p.His557Gln)
c.993C>A (p.His331Gln)
c.1578C>A (p.His526Gln)
c.1447C>A (n.1447C>A)
c.255C>A (p.His85Gln)
c.828C>A (p.His276Gln)
c.1506C>A (p.His502Gln)
c.1629C>A (p.His543Gln)
c.903C>A (p.His301Gln)
c.1509C>A (p.His503Gln)
n.2423+2585G>T
n.1868C>A
10g.18539484C>GCA376071985CACNB2,NSUN6c.1599C>G (p.His533Gln)
c.1464C>G (p.His488Gln)
c.1587C>G (p.His529Gln)
c.1659C>G (p.His553Gln)
c.1743C>G (p.His581Gln)
c.1581C>G (p.His527Gln)
c.1368C>G (p.His456Gln)
c.1545C>G (p.His515Gln)
c.*884C>G (n.*884C>G)
c.1485C>G (p.His495Gln)
c.*1017C>G (n.*1017C>G)
c.1300C>G (n.1300C>G)
c.*982C>G (n.*982C>G)
c.1563C>G (p.His521Gln)
c.*843C>G (n.*843C>G)
c.1671C>G (p.His557Gln)
c.993C>G (p.His331Gln)
c.1578C>G (p.His526Gln)
c.1447C>G (n.1447C>G)
c.255C>G (p.His85Gln)
c.828C>G (p.His276Gln)
c.1506C>G (p.His502Gln)
c.1629C>G (p.His543Gln)
c.903C>G (p.His301Gln)
c.1509C>G (p.His503Gln)
n.2423+2585G>C
n.1868C>G
10g.18539484C>TCA468629560CACNB2,NSUN6c.1599C>T (p.His533=)
c.1464C>T (p.His488=)
c.1587C>T (p.His529=)
c.1659C>T (p.His553=)
c.1743C>T (p.His581=)
c.1581C>T (p.His527=)
c.1368C>T (p.His456=)
c.1545C>T (p.His515=)
c.*884C>T (n.*884C>T)
c.1485C>T (p.His495=)
c.*1017C>T (n.*1017C>T)
c.1300C>T (n.1300C>T)
c.*982C>T (n.*982C>T)
c.1563C>T (p.His521=)
c.*843C>T (n.*843C>T)
c.1671C>T (p.His557=)
c.993C>T (p.His331=)
c.1578C>T (p.His526=)
c.1447C>T (n.1447C>T)
c.255C>T (p.His85=)
c.828C>T (p.His276=)
c.1506C>T (p.His502=)
c.1629C>T (p.His543=)
c.903C>T (p.His301=)
c.1509C>T (p.His503=)
n.2423+2585G>A
n.1868C>T
10g.18539485T>ACA376071987CACNB2,NSUN6c.1600T>A (p.Tyr534Asn)
c.1465T>A (p.Tyr489Asn)
c.1588T>A (p.Tyr530Asn)
c.1660T>A (p.Tyr554Asn)
c.1744T>A (p.Tyr582Asn)
c.1582T>A (p.Tyr528Asn)
c.1369T>A (p.Tyr457Asn)
c.1546T>A (p.Tyr516Asn)
c.*885T>A (n.*885T>A)
c.1486T>A (p.Tyr496Asn)
c.*1018T>A (n.*1018T>A)
c.1301T>A (n.1301T>A)
c.*983T>A (n.*983T>A)
c.1564T>A (p.Tyr522Asn)
c.*844T>A (n.*844T>A)
c.1672T>A (p.Tyr558Asn)
c.994T>A (p.Tyr332Asn)
c.1579T>A (p.Tyr527Asn)
c.1448T>A (n.1448T>A)
c.256T>A (p.Tyr86Asn)
c.829T>A (p.Tyr277Asn)
c.1507T>A (p.Tyr503Asn)
c.1630T>A (p.Tyr544Asn)
c.904T>A (p.Tyr302Asn)
c.1510T>A (p.Tyr504Asn)
n.2423+2584A>T
n.1869T>A
 dbSNP gnomAD v4
10g.18539485T>CCA376071989CACNB2,NSUN6c.1600T>C (p.Tyr534His)
c.1465T>C (p.Tyr489His)
c.1588T>C (p.Tyr530His)
c.1660T>C (p.Tyr554His)
c.1744T>C (p.Tyr582His)
c.1582T>C (p.Tyr528His)
c.1369T>C (p.Tyr457His)
c.1546T>C (p.Tyr516His)
c.*885T>C (n.*885T>C)
c.1486T>C (p.Tyr496His)
c.*1018T>C (n.*1018T>C)
c.1301T>C (n.1301T>C)
c.*983T>C (n.*983T>C)
c.1564T>C (p.Tyr522His)
c.*844T>C (n.*844T>C)
c.1672T>C (p.Tyr558His)
c.994T>C (p.Tyr332His)
c.1579T>C (p.Tyr527His)
c.1448T>C (n.1448T>C)
c.256T>C (p.Tyr86His)
c.829T>C (p.Tyr277His)
c.1507T>C (p.Tyr503His)
c.1630T>C (p.Tyr544His)
c.904T>C (p.Tyr302His)
c.1510T>C (p.Tyr504His)
n.2423+2584A>G
n.1869T>C
 ClinVar gnomAD v4
10g.18539485T>GCA376071988CACNB2,NSUN6c.1600T>G (p.Tyr534Asp)
c.1465T>G (p.Tyr489Asp)
c.1588T>G (p.Tyr530Asp)
c.1660T>G (p.Tyr554Asp)
c.1744T>G (p.Tyr582Asp)
c.1582T>G (p.Tyr528Asp)
c.1369T>G (p.Tyr457Asp)
c.1546T>G (p.Tyr516Asp)
c.*885T>G (n.*885T>G)
c.1486T>G (p.Tyr496Asp)
c.*1018T>G (n.*1018T>G)
c.1301T>G (n.1301T>G)
c.*983T>G (n.*983T>G)
c.1564T>G (p.Tyr522Asp)
c.*844T>G (n.*844T>G)
c.1672T>G (p.Tyr558Asp)
c.994T>G (p.Tyr332Asp)
c.1579T>G (p.Tyr527Asp)
c.1448T>G (n.1448T>G)
c.256T>G (p.Tyr86Asp)
c.829T>G (p.Tyr277Asp)
c.1507T>G (p.Tyr503Asp)
c.1630T>G (p.Tyr544Asp)
c.904T>G (p.Tyr302Asp)
c.1510T>G (p.Tyr504Asp)
n.2423+2584A>C
n.1869T>G
10g.18539485T=CA1894173557CACNB2,NSUN6c.1600T= (p.Tyr534=)
c.1465T= (p.Tyr489=)
c.1588T= (p.Tyr530=)
c.1660T= (p.Tyr554=)
c.1744T= (p.Tyr582=)
c.1582T= (p.Tyr528=)
c.1369T= (p.Tyr457=)
c.1546T= (p.Tyr516=)
c.*885T= (n.*885T=)
c.1486T= (p.Tyr496=)
c.*1018T= (n.*1018T=)
c.1301T= (n.1301T=)
c.*983T= (n.*983T=)
c.1564T= (p.Tyr522=)
c.*844T= (n.*844T=)
c.1672T= (p.Tyr558=)
c.994T= (p.Tyr332=)
c.1579T= (p.Tyr527=)
c.1448T= (n.1448T=)
c.256T= (p.Tyr86=)
c.829T= (p.Tyr277=)
c.1507T= (p.Tyr503=)
c.1630T= (p.Tyr544=)
c.904T= (p.Tyr302=)
c.1510T= (p.Tyr504=)
n.2423+2584A=
n.1869T=
10g.18539486A=CA1894173561CACNB2,NSUN6c.1601A= (p.Tyr534=)
c.1466A= (p.Tyr489=)
c.1589A= (p.Tyr530=)
c.1661A= (p.Tyr554=)
c.1745A= (p.Tyr582=)
c.1583A= (p.Tyr528=)
c.1370A= (p.Tyr457=)
c.1547A= (p.Tyr516=)
c.*886A= (n.*886A=)
c.1487A= (p.Tyr496=)
c.*1019A= (n.*1019A=)
c.1302A= (n.1302A=)
c.*984A= (n.*984A=)
c.1565A= (p.Tyr522=)
c.*845A= (n.*845A=)
c.1673A= (p.Tyr558=)
c.995A= (p.Tyr332=)
c.1580A= (p.Tyr527=)
c.1449A= (n.1449A=)
c.257A= (p.Tyr86=)
c.830A= (p.Tyr277=)
c.1508A= (p.Tyr503=)
c.1631A= (p.Tyr544=)
c.905A= (p.Tyr302=)
c.1511A= (p.Tyr504=)
n.2423+2583T=
n.1870A=
10g.18539486A>CCA376071991CACNB2,NSUN6c.1601A>C (p.Tyr534Ser)
c.1466A>C (p.Tyr489Ser)
c.1589A>C (p.Tyr530Ser)
c.1661A>C (p.Tyr554Ser)
c.1745A>C (p.Tyr582Ser)
c.1583A>C (p.Tyr528Ser)
c.1370A>C (p.Tyr457Ser)
c.1547A>C (p.Tyr516Ser)
c.*886A>C (n.*886A>C)
c.1487A>C (p.Tyr496Ser)
c.*1019A>C (n.*1019A>C)
c.1302A>C (n.1302A>C)
c.*984A>C (n.*984A>C)
c.1565A>C (p.Tyr522Ser)
c.*845A>C (n.*845A>C)
c.1673A>C (p.Tyr558Ser)
c.995A>C (p.Tyr332Ser)
c.1580A>C (p.Tyr527Ser)
c.1449A>C (n.1449A>C)
c.257A>C (p.Tyr86Ser)
c.830A>C (p.Tyr277Ser)
c.1508A>C (p.Tyr503Ser)
c.1631A>C (p.Tyr544Ser)
c.905A>C (p.Tyr302Ser)
c.1511A>C (p.Tyr504Ser)
n.2423+2583T>G
n.1870A>C
10g.18539486A>GCA5430151CACNB2,NSUN6c.1601A>G (p.Tyr534Cys)
c.1466A>G (p.Tyr489Cys)
c.1589A>G (p.Tyr530Cys)
c.1661A>G (p.Tyr554Cys)
c.1745A>G (p.Tyr582Cys)
c.1583A>G (p.Tyr528Cys)
c.1370A>G (p.Tyr457Cys)
c.1547A>G (p.Tyr516Cys)
c.*886A>G (n.*886A>G)
c.1487A>G (p.Tyr496Cys)
c.*1019A>G (n.*1019A>G)
c.1302A>G (n.1302A>G)
c.*984A>G (n.*984A>G)
c.1565A>G (p.Tyr522Cys)
c.*845A>G (n.*845A>G)
c.1673A>G (p.Tyr558Cys)
c.995A>G (p.Tyr332Cys)
c.1580A>G (p.Tyr527Cys)
c.1449A>G (n.1449A>G)
c.257A>G (p.Tyr86Cys)
c.830A>G (p.Tyr277Cys)
c.1508A>G (p.Tyr503Cys)
c.1631A>G (p.Tyr544Cys)
c.905A>G (p.Tyr302Cys)
c.1511A>G (p.Tyr504Cys)
n.2423+2583T>C
n.1870A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539486A>TCA376071993CACNB2,NSUN6c.1601A>T (p.Tyr534Phe)
c.1466A>T (p.Tyr489Phe)
c.1589A>T (p.Tyr530Phe)
c.1661A>T (p.Tyr554Phe)
c.1745A>T (p.Tyr582Phe)
c.1583A>T (p.Tyr528Phe)
c.1370A>T (p.Tyr457Phe)
c.1547A>T (p.Tyr516Phe)
c.*886A>T (n.*886A>T)
c.1487A>T (p.Tyr496Phe)
c.*1019A>T (n.*1019A>T)
c.1302A>T (n.1302A>T)
c.*984A>T (n.*984A>T)
c.1565A>T (p.Tyr522Phe)
c.*845A>T (n.*845A>T)
c.1673A>T (p.Tyr558Phe)
c.995A>T (p.Tyr332Phe)
c.1580A>T (p.Tyr527Phe)
c.1449A>T (n.1449A>T)
c.257A>T (p.Tyr86Phe)
c.830A>T (p.Tyr277Phe)
c.1508A>T (p.Tyr503Phe)
c.1631A>T (p.Tyr544Phe)
c.905A>T (p.Tyr302Phe)
c.1511A>T (p.Tyr504Phe)
n.2423+2583T>A
n.1870A>T
10g.18539487T>ACA376071994CACNB2,NSUN6c.1602T>A (p.Tyr534Ter)
c.1467T>A (p.Tyr489Ter)
c.1590T>A (p.Tyr530Ter)
c.1662T>A (p.Tyr554Ter)
c.1746T>A (p.Tyr582Ter)
c.1584T>A (p.Tyr528Ter)
c.1371T>A (p.Tyr457Ter)
c.1548T>A (p.Tyr516Ter)
c.*887T>A (n.*887T>A)
c.1488T>A (p.Tyr496Ter)
c.*1020T>A (n.*1020T>A)
c.1303T>A (n.1303T>A)
c.*985T>A (n.*985T>A)
c.1566T>A (p.Tyr522Ter)
c.*846T>A (n.*846T>A)
c.1674T>A (p.Tyr558Ter)
c.996T>A (p.Tyr332Ter)
c.1581T>A (p.Tyr527Ter)
c.1450T>A (n.1450T>A)
c.258T>A (p.Tyr86Ter)
c.831T>A (p.Tyr277Ter)
c.1509T>A (p.Tyr503Ter)
c.1632T>A (p.Tyr544Ter)
c.906T>A (p.Tyr302Ter)
c.1512T>A (p.Tyr504Ter)
n.2423+2582A>T
n.1871T>A
10g.18539487T>CCA5430152CACNB2,NSUN6c.1602T>C (p.Tyr534=)
c.1467T>C (p.Tyr489=)
c.1590T>C (p.Tyr530=)
c.1662T>C (p.Tyr554=)
c.1746T>C (p.Tyr582=)
c.1584T>C (p.Tyr528=)
c.1371T>C (p.Tyr457=)
c.1548T>C (p.Tyr516=)
c.*887T>C (n.*887T>C)
c.1488T>C (p.Tyr496=)
c.*1020T>C (n.*1020T>C)
c.1303T>C (n.1303T>C)
c.*985T>C (n.*985T>C)
c.1566T>C (p.Tyr522=)
c.*846T>C (n.*846T>C)
c.1674T>C (p.Tyr558=)
c.996T>C (p.Tyr332=)
c.1581T>C (p.Tyr527=)
c.1450T>C (n.1450T>C)
c.258T>C (p.Tyr86=)
c.831T>C (p.Tyr277=)
c.1509T>C (p.Tyr503=)
c.1632T>C (p.Tyr544=)
c.906T>C (p.Tyr302=)
c.1512T>C (p.Tyr504=)
n.2423+2582A>G
n.1871T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539487T>GCA376071996CACNB2,NSUN6c.1602T>G (p.Tyr534Ter)
c.1467T>G (p.Tyr489Ter)
c.1590T>G (p.Tyr530Ter)
c.1662T>G (p.Tyr554Ter)
c.1746T>G (p.Tyr582Ter)
c.1584T>G (p.Tyr528Ter)
c.1371T>G (p.Tyr457Ter)
c.1548T>G (p.Tyr516Ter)
c.*887T>G (n.*887T>G)
c.1488T>G (p.Tyr496Ter)
c.*1020T>G (n.*1020T>G)
c.1303T>G (n.1303T>G)
c.*985T>G (n.*985T>G)
c.1566T>G (p.Tyr522Ter)
c.*846T>G (n.*846T>G)
c.1674T>G (p.Tyr558Ter)
c.996T>G (p.Tyr332Ter)
c.1581T>G (p.Tyr527Ter)
c.1450T>G (n.1450T>G)
c.258T>G (p.Tyr86Ter)
c.831T>G (p.Tyr277Ter)
c.1509T>G (p.Tyr503Ter)
c.1632T>G (p.Tyr544Ter)
c.906T>G (p.Tyr302Ter)
c.1512T>G (p.Tyr504Ter)
n.2423+2582A>C
n.1871T>G
10g.18539487T=CA1894173563CACNB2,NSUN6c.1602T= (p.Tyr534=)
c.1467T= (p.Tyr489=)
c.1590T= (p.Tyr530=)
c.1662T= (p.Tyr554=)
c.1746T= (p.Tyr582=)
c.1584T= (p.Tyr528=)
c.1371T= (p.Tyr457=)
c.1548T= (p.Tyr516=)
c.*887T= (n.*887T=)
c.1488T= (p.Tyr496=)
c.*1020T= (n.*1020T=)
c.1303T= (n.1303T=)
c.*985T= (n.*985T=)
c.1566T= (p.Tyr522=)
c.*846T= (n.*846T=)
c.1674T= (p.Tyr558=)
c.996T= (p.Tyr332=)
c.1581T= (p.Tyr527=)
c.1450T= (n.1450T=)
c.258T= (p.Tyr86=)
c.831T= (p.Tyr277=)
c.1509T= (p.Tyr503=)
c.1632T= (p.Tyr544=)
c.906T= (p.Tyr302=)
c.1512T= (p.Tyr504=)
n.2423+2582A=
n.1871T=
10g.18539488G>ACA376071998CACNB2,NSUN6c.1603G>A (p.Ala535Thr)
c.1468G>A (p.Ala490Thr)
c.1591G>A (p.Ala531Thr)
c.1663G>A (p.Ala555Thr)
c.1747G>A (p.Ala583Thr)
c.1585G>A (p.Ala529Thr)
c.1372G>A (p.Ala458Thr)
c.1549G>A (p.Ala517Thr)
c.*888G>A (n.*888G>A)
c.1489G>A (p.Ala497Thr)
c.*1021G>A (n.*1021G>A)
c.1304G>A (n.1304G>A)
c.*986G>A (n.*986G>A)
c.1567G>A (p.Ala523Thr)
c.*847G>A (n.*847G>A)
c.1675G>A (p.Ala559Thr)
c.997G>A (p.Ala333Thr)
c.1582G>A (p.Ala528Thr)
c.1451G>A (n.1451G>A)
c.259G>A (p.Ala87Thr)
c.832G>A (p.Ala278Thr)
c.1510G>A (p.Ala504Thr)
c.1633G>A (p.Ala545Thr)
c.907G>A (p.Ala303Thr)
c.1513G>A (p.Ala505Thr)
n.2423+2581C>T
n.1872G>A
10g.18539488G>CCA5430153CACNB2,NSUN6c.1603G>C (p.Ala535Pro)
c.1468G>C (p.Ala490Pro)
c.1591G>C (p.Ala531Pro)
c.1663G>C (p.Ala555Pro)
c.1747G>C (p.Ala583Pro)
c.1585G>C (p.Ala529Pro)
c.1372G>C (p.Ala458Pro)
c.1549G>C (p.Ala517Pro)
c.*888G>C (n.*888G>C)
c.1489G>C (p.Ala497Pro)
c.*1021G>C (n.*1021G>C)
c.1304G>C (n.1304G>C)
c.*986G>C (n.*986G>C)
c.1567G>C (p.Ala523Pro)
c.*847G>C (n.*847G>C)
c.1675G>C (p.Ala559Pro)
c.997G>C (p.Ala333Pro)
c.1582G>C (p.Ala528Pro)
c.1451G>C (n.1451G>C)
c.259G>C (p.Ala87Pro)
c.832G>C (p.Ala278Pro)
c.1510G>C (p.Ala504Pro)
c.1633G>C (p.Ala545Pro)
c.907G>C (p.Ala303Pro)
c.1513G>C (p.Ala505Pro)
n.2423+2581C>G
n.1872G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539488G=CA1894173570CACNB2,NSUN6c.1603G= (p.Ala535=)
c.1468G= (p.Ala490=)
c.1591G= (p.Ala531=)
c.1663G= (p.Ala555=)
c.1747G= (p.Ala583=)
c.1585G= (p.Ala529=)
c.1372G= (p.Ala458=)
c.1549G= (p.Ala517=)
c.*888G= (n.*888G=)
c.1489G= (p.Ala497=)
c.*1021G= (n.*1021G=)
c.1304G= (n.1304G=)
c.*986G= (n.*986G=)
c.1567G= (p.Ala523=)
c.*847G= (n.*847G=)
c.1675G= (p.Ala559=)
c.997G= (p.Ala333=)
c.1582G= (p.Ala528=)
c.1451G= (n.1451G=)
c.259G= (p.Ala87=)
c.832G= (p.Ala278=)
c.1510G= (p.Ala504=)
c.1633G= (p.Ala545=)
c.907G= (p.Ala303=)
c.1513G= (p.Ala505=)
n.2423+2581C=
n.1872G=
10g.18539488G>TCA376072004CACNB2,NSUN6c.1603G>T (p.Ala535Ser)
c.1468G>T (p.Ala490Ser)
c.1591G>T (p.Ala531Ser)
c.1663G>T (p.Ala555Ser)
c.1747G>T (p.Ala583Ser)
c.1585G>T (p.Ala529Ser)
c.1372G>T (p.Ala458Ser)
c.1549G>T (p.Ala517Ser)
c.*888G>T (n.*888G>T)
c.1489G>T (p.Ala497Ser)
c.*1021G>T (n.*1021G>T)
c.1304G>T (n.1304G>T)
c.*986G>T (n.*986G>T)
c.1567G>T (p.Ala523Ser)
c.*847G>T (n.*847G>T)
c.1675G>T (p.Ala559Ser)
c.997G>T (p.Ala333Ser)
c.1582G>T (p.Ala528Ser)
c.1451G>T (n.1451G>T)
c.259G>T (p.Ala87Ser)
c.832G>T (p.Ala278Ser)
c.1510G>T (p.Ala504Ser)
c.1633G>T (p.Ala545Ser)
c.907G>T (p.Ala303Ser)
c.1513G>T (p.Ala505Ser)
n.2423+2581C>A
n.1872G>T
 gnomAD v4
10g.18539489C>ACA376072006CACNB2,NSUN6c.1604C>A (p.Ala535Asp)
c.1469C>A (p.Ala490Asp)
c.1592C>A (p.Ala531Asp)
c.1664C>A (p.Ala555Asp)
c.1748C>A (p.Ala583Asp)
c.1586C>A (p.Ala529Asp)
c.1373C>A (p.Ala458Asp)
c.1550C>A (p.Ala517Asp)
c.*889C>A (n.*889C>A)
c.1490C>A (p.Ala497Asp)
c.*1022C>A (n.*1022C>A)
c.1305C>A (n.1305C>A)
c.*987C>A (n.*987C>A)
c.1568C>A (p.Ala523Asp)
c.*848C>A (n.*848C>A)
c.1676C>A (p.Ala559Asp)
c.998C>A (p.Ala333Asp)
c.1583C>A (p.Ala528Asp)
c.1452C>A (n.1452C>A)
c.260C>A (p.Ala87Asp)
c.833C>A (p.Ala278Asp)
c.1511C>A (p.Ala504Asp)
c.1634C>A (p.Ala545Asp)
c.908C>A (p.Ala303Asp)
c.1514C>A (p.Ala505Asp)
n.2423+2580G>T
n.1873C>A
10g.18539489C=CA1894173581CACNB2,NSUN6c.1604C= (p.Ala535=)
c.1469C= (p.Ala490=)
c.1592C= (p.Ala531=)
c.1664C= (p.Ala555=)
c.1748C= (p.Ala583=)
c.1586C= (p.Ala529=)
c.1373C= (p.Ala458=)
c.1550C= (p.Ala517=)
c.*889C= (n.*889C=)
c.1490C= (p.Ala497=)
c.*1022C= (n.*1022C=)
c.1305C= (n.1305C=)
c.*987C= (n.*987C=)
c.1568C= (p.Ala523=)
c.*848C= (n.*848C=)
c.1676C= (p.Ala559=)
c.998C= (p.Ala333=)
c.1583C= (p.Ala528=)
c.1452C= (n.1452C=)
c.260C= (p.Ala87=)
c.833C= (p.Ala278=)
c.1511C= (p.Ala504=)
c.1634C= (p.Ala545=)
c.908C= (p.Ala303=)
c.1514C= (p.Ala505=)
n.2423+2580G=
n.1873C=
10g.18539489C>GCA376072007CACNB2,NSUN6c.1604C>G (p.Ala535Gly)
c.1469C>G (p.Ala490Gly)
c.1592C>G (p.Ala531Gly)
c.1664C>G (p.Ala555Gly)
c.1748C>G (p.Ala583Gly)
c.1586C>G (p.Ala529Gly)
c.1373C>G (p.Ala458Gly)
c.1550C>G (p.Ala517Gly)
c.*889C>G (n.*889C>G)
c.1490C>G (p.Ala497Gly)
c.*1022C>G (n.*1022C>G)
c.1305C>G (n.1305C>G)
c.*987C>G (n.*987C>G)
c.1568C>G (p.Ala523Gly)
c.*848C>G (n.*848C>G)
c.1676C>G (p.Ala559Gly)
c.998C>G (p.Ala333Gly)
c.1583C>G (p.Ala528Gly)
c.1452C>G (n.1452C>G)
c.260C>G (p.Ala87Gly)
c.833C>G (p.Ala278Gly)
c.1511C>G (p.Ala504Gly)
c.1634C>G (p.Ala545Gly)
c.908C>G (p.Ala303Gly)
c.1514C>G (p.Ala505Gly)
n.2423+2580G>C
n.1873C>G
10g.18539489C>TCA5430154CACNB2,NSUN6c.1604C>T (p.Ala535Val)
c.1469C>T (p.Ala490Val)
c.1592C>T (p.Ala531Val)
c.1664C>T (p.Ala555Val)
c.1748C>T (p.Ala583Val)
c.1586C>T (p.Ala529Val)
c.1373C>T (p.Ala458Val)
c.1550C>T (p.Ala517Val)
c.*889C>T (n.*889C>T)
c.1490C>T (p.Ala497Val)
c.*1022C>T (n.*1022C>T)
c.1305C>T (n.1305C>T)
c.*987C>T (n.*987C>T)
c.1568C>T (p.Ala523Val)
c.*848C>T (n.*848C>T)
c.1676C>T (p.Ala559Val)
c.998C>T (p.Ala333Val)
c.1583C>T (p.Ala528Val)
c.1452C>T (n.1452C>T)
c.260C>T (p.Ala87Val)
c.833C>T (p.Ala278Val)
c.1511C>T (p.Ala504Val)
c.1634C>T (p.Ala545Val)
c.908C>T (p.Ala303Val)
c.1514C>T (p.Ala505Val)
n.2423+2580G>A
n.1873C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
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.18539490C>ACA468629618CACNB2,NSUN6c.1605C>A (p.Ala535=)
c.1470C>A (p.Ala490=)
c.1593C>A (p.Ala531=)
c.1665C>A (p.Ala555=)
c.1749C>A (p.Ala583=)
c.1587C>A (p.Ala529=)
c.1374C>A (p.Ala458=)
c.1551C>A (p.Ala517=)
c.*890C>A (n.*890C>A)
c.1491C>A (p.Ala497=)
c.*1023C>A (n.*1023C>A)
c.1306C>A (n.1306C>A)
c.*988C>A (n.*988C>A)
c.1569C>A (p.Ala523=)
c.*849C>A (n.*849C>A)
c.1677C>A (p.Ala559=)
c.999C>A (p.Ala333=)
c.1584C>A (p.Ala528=)
c.1453C>A (n.1453C>A)
c.261C>A (p.Ala87=)
c.834C>A (p.Ala278=)
c.1512C>A (p.Ala504=)
c.1635C>A (p.Ala545=)
c.909C>A (p.Ala303=)
c.1515C>A (p.Ala505=)
n.2423+2579G>T
n.1874C>A
10g.18539490C=CA1894173589CACNB2,NSUN6c.1605C= (p.Ala535=)
c.1470C= (p.Ala490=)
c.1593C= (p.Ala531=)
c.1665C= (p.Ala555=)
c.1749C= (p.Ala583=)
c.1587C= (p.Ala529=)
c.1374C= (p.Ala458=)
c.1551C= (p.Ala517=)
c.*890C= (n.*890C=)
c.1491C= (p.Ala497=)
c.*1023C= (n.*1023C=)
c.1306C= (n.1306C=)
c.*988C= (n.*988C=)
c.1569C= (p.Ala523=)
c.*849C= (n.*849C=)
c.1677C= (p.Ala559=)
c.999C= (p.Ala333=)
c.1584C= (p.Ala528=)
c.1453C= (n.1453C=)
c.261C= (p.Ala87=)
c.834C= (p.Ala278=)
c.1512C= (p.Ala504=)
c.1635C= (p.Ala545=)
c.909C= (p.Ala303=)
c.1515C= (p.Ala505=)
n.2423+2579G=
n.1874C=
10g.18539490C>GCA5430155CACNB2,NSUN6c.1605C>G (p.Ala535=)
c.1470C>G (p.Ala490=)
c.1593C>G (p.Ala531=)
c.1665C>G (p.Ala555=)
c.1749C>G (p.Ala583=)
c.1587C>G (p.Ala529=)
c.1374C>G (p.Ala458=)
c.1551C>G (p.Ala517=)
c.*890C>G (n.*890C>G)
c.1491C>G (p.Ala497=)
c.*1023C>G (n.*1023C>G)
c.1306C>G (n.1306C>G)
c.*988C>G (n.*988C>G)
c.1569C>G (p.Ala523=)
c.*849C>G (n.*849C>G)
c.1677C>G (p.Ala559=)
c.999C>G (p.Ala333=)
c.1584C>G (p.Ala528=)
c.1453C>G (n.1453C>G)
c.261C>G (p.Ala87=)
c.834C>G (p.Ala278=)
c.1512C>G (p.Ala504=)
c.1635C>G (p.Ala545=)
c.909C>G (p.Ala303=)
c.1515C>G (p.Ala505=)
n.2423+2579G>C
n.1874C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539490C>TCA468629623CACNB2,NSUN6c.1605C>T (p.Ala535=)
c.1470C>T (p.Ala490=)
c.1593C>T (p.Ala531=)
c.1665C>T (p.Ala555=)
c.1749C>T (p.Ala583=)
c.1587C>T (p.Ala529=)
c.1374C>T (p.Ala458=)
c.1551C>T (p.Ala517=)
c.*890C>T (n.*890C>T)
c.1491C>T (p.Ala497=)
c.*1023C>T (n.*1023C>T)
c.1306C>T (n.1306C>T)
c.*988C>T (n.*988C>T)
c.1569C>T (p.Ala523=)
c.*849C>T (n.*849C>T)
c.1677C>T (p.Ala559=)
c.999C>T (p.Ala333=)
c.1584C>T (p.Ala528=)
c.1453C>T (n.1453C>T)
c.261C>T (p.Ala87=)
c.834C>T (p.Ala278=)
c.1512C>T (p.Ala504=)
c.1635C>T (p.Ala545=)
c.909C>T (p.Ala303=)
c.1515C>T (p.Ala505=)
n.2423+2579G>A
n.1874C>T
10g.18539491T>ACA376072015CACNB2,NSUN6c.1606T>A (p.Ser536Thr)
c.1471T>A (p.Ser491Thr)
c.1594T>A (p.Ser532Thr)
c.1666T>A (p.Ser556Thr)
c.1750T>A (p.Ser584Thr)
c.1588T>A (p.Ser530Thr)
c.1375T>A (p.Ser459Thr)
c.1552T>A (p.Ser518Thr)
c.*891T>A (n.*891T>A)
c.1492T>A (p.Ser498Thr)
c.*1024T>A (n.*1024T>A)
c.1307T>A (n.1307T>A)
c.*989T>A (n.*989T>A)
c.1570T>A (p.Ser524Thr)
c.*850T>A (n.*850T>A)
c.1678T>A (p.Ser560Thr)
c.1000T>A (p.Ser334Thr)
c.1585T>A (p.Ser529Thr)
c.1454T>A (n.1454T>A)
c.262T>A (p.Ser88Thr)
c.835T>A (p.Ser279Thr)
c.1513T>A (p.Ser505Thr)
c.1636T>A (p.Ser546Thr)
c.910T>A (p.Ser304Thr)
c.1516T>A (p.Ser506Thr)
n.2423+2578A>T
n.1875T>A
10g.18539491T>CCA376072014CACNB2,NSUN6c.1606T>C (p.Ser536Pro)
c.1471T>C (p.Ser491Pro)
c.1594T>C (p.Ser532Pro)
c.1666T>C (p.Ser556Pro)
c.1750T>C (p.Ser584Pro)
c.1588T>C (p.Ser530Pro)
c.1375T>C (p.Ser459Pro)
c.1552T>C (p.Ser518Pro)
c.*891T>C (n.*891T>C)
c.1492T>C (p.Ser498Pro)
c.*1024T>C (n.*1024T>C)
c.1307T>C (n.1307T>C)
c.*989T>C (n.*989T>C)
c.1570T>C (p.Ser524Pro)
c.*850T>C (n.*850T>C)
c.1678T>C (p.Ser560Pro)
c.1000T>C (p.Ser334Pro)
c.1585T>C (p.Ser529Pro)
c.1454T>C (n.1454T>C)
c.262T>C (p.Ser88Pro)
c.835T>C (p.Ser279Pro)
c.1513T>C (p.Ser505Pro)
c.1636T>C (p.Ser546Pro)
c.910T>C (p.Ser304Pro)
c.1516T>C (p.Ser506Pro)
n.2423+2578A>G
n.1875T>C
10g.18539491T>GCA376072012CACNB2,NSUN6c.1606T>G (p.Ser536Ala)
c.1471T>G (p.Ser491Ala)
c.1594T>G (p.Ser532Ala)
c.1666T>G (p.Ser556Ala)
c.1750T>G (p.Ser584Ala)
c.1588T>G (p.Ser530Ala)
c.1375T>G (p.Ser459Ala)
c.1552T>G (p.Ser518Ala)
c.*891T>G (n.*891T>G)
c.1492T>G (p.Ser498Ala)
c.*1024T>G (n.*1024T>G)
c.1307T>G (n.1307T>G)
c.*989T>G (n.*989T>G)
c.1570T>G (p.Ser524Ala)
c.*850T>G (n.*850T>G)
c.1678T>G (p.Ser560Ala)
c.1000T>G (p.Ser334Ala)
c.1585T>G (p.Ser529Ala)
c.1454T>G (n.1454T>G)
c.262T>G (p.Ser88Ala)
c.835T>G (p.Ser279Ala)
c.1513T>G (p.Ser505Ala)
c.1636T>G (p.Ser546Ala)
c.910T>G (p.Ser304Ala)
c.1516T>G (p.Ser506Ala)
n.2423+2578A>C
n.1875T>G
10g.18539492C>ACA5430156CACNB2,NSUN6c.1607C>A (p.Ser536Ter)
c.1472C>A (p.Ser491Ter)
c.1595C>A (p.Ser532Ter)
c.1667C>A (p.Ser556Ter)
c.1751C>A (p.Ser584Ter)
c.1589C>A (p.Ser530Ter)
c.1376C>A (p.Ser459Ter)
c.1553C>A (p.Ser518Ter)
c.*892C>A (n.*892C>A)
c.1493C>A (p.Ser498Ter)
c.*1025C>A (n.*1025C>A)
c.1308C>A (n.1308C>A)
c.*990C>A (n.*990C>A)
c.1571C>A (p.Ser524Ter)
c.*851C>A (n.*851C>A)
c.1679C>A (p.Ser560Ter)
c.1001C>A (p.Ser334Ter)
c.1586C>A (p.Ser529Ter)
c.1455C>A (n.1455C>A)
c.263C>A (p.Ser88Ter)
c.836C>A (p.Ser279Ter)
c.1514C>A (p.Ser505Ter)
c.1637C>A (p.Ser546Ter)
c.911C>A (p.Ser304Ter)
c.1517C>A (p.Ser506Ter)
n.2423+2577G>T
n.1876C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539492C=CA1894173599CACNB2,NSUN6c.1607C= (p.Ser536=)
c.1472C= (p.Ser491=)
c.1595C= (p.Ser532=)
c.1667C= (p.Ser556=)
c.1751C= (p.Ser584=)
c.1589C= (p.Ser530=)
c.1376C= (p.Ser459=)
c.1553C= (p.Ser518=)
c.*892C= (n.*892C=)
c.1493C= (p.Ser498=)
c.*1025C= (n.*1025C=)
c.1308C= (n.1308C=)
c.*990C= (n.*990C=)
c.1571C= (p.Ser524=)
c.*851C= (n.*851C=)
c.1679C= (p.Ser560=)
c.1001C= (p.Ser334=)
c.1586C= (p.Ser529=)
c.1455C= (n.1455C=)
c.263C= (p.Ser88=)
c.836C= (p.Ser279=)
c.1514C= (p.Ser505=)
c.1637C= (p.Ser546=)
c.911C= (p.Ser304=)
c.1517C= (p.Ser506=)
n.2423+2577G=
n.1876C=
10g.18539492C>GCA376072021CACNB2,NSUN6c.1607C>G (p.Ser536Ter)
c.1472C>G (p.Ser491Ter)
c.1595C>G (p.Ser532Ter)
c.1667C>G (p.Ser556Ter)
c.1751C>G (p.Ser584Ter)
c.1589C>G (p.Ser530Ter)
c.1376C>G (p.Ser459Ter)
c.1553C>G (p.Ser518Ter)
c.*892C>G (n.*892C>G)
c.1493C>G (p.Ser498Ter)
c.*1025C>G (n.*1025C>G)
c.1308C>G (n.1308C>G)
c.*990C>G (n.*990C>G)
c.1571C>G (p.Ser524Ter)
c.*851C>G (n.*851C>G)
c.1679C>G (p.Ser560Ter)
c.1001C>G (p.Ser334Ter)
c.1586C>G (p.Ser529Ter)
c.1455C>G (n.1455C>G)
c.263C>G (p.Ser88Ter)
c.836C>G (p.Ser279Ter)
c.1514C>G (p.Ser505Ter)
c.1637C>G (p.Ser546Ter)
c.911C>G (p.Ser304Ter)
c.1517C>G (p.Ser506Ter)
n.2423+2577G>C
n.1876C>G
10g.18539492C>TCA376072023CACNB2,NSUN6c.1607C>T (p.Ser536Leu)
c.1472C>T (p.Ser491Leu)
c.1595C>T (p.Ser532Leu)
c.1667C>T (p.Ser556Leu)
c.1751C>T (p.Ser584Leu)
c.1589C>T (p.Ser530Leu)
c.1376C>T (p.Ser459Leu)
c.1553C>T (p.Ser518Leu)
c.*892C>T (n.*892C>T)
c.1493C>T (p.Ser498Leu)
c.*1025C>T (n.*1025C>T)
c.1308C>T (n.1308C>T)
c.*990C>T (n.*990C>T)
c.1571C>T (p.Ser524Leu)
c.*851C>T (n.*851C>T)
c.1679C>T (p.Ser560Leu)
c.1001C>T (p.Ser334Leu)
c.1586C>T (p.Ser529Leu)
c.1455C>T (n.1455C>T)
c.263C>T (p.Ser88Leu)
c.836C>T (p.Ser279Leu)
c.1514C>T (p.Ser505Leu)
c.1637C>T (p.Ser546Leu)
c.911C>T (p.Ser304Leu)
c.1517C>T (p.Ser506Leu)
n.2423+2577G>A
n.1876C>T
 dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539493A=CA1894173607CACNB2,NSUN6c.1608A= (p.Ser536=)
c.1473A= (p.Ser491=)
c.1596A= (p.Ser532=)
c.1668A= (p.Ser556=)
c.1752A= (p.Ser584=)
c.1590A= (p.Ser530=)
c.1377A= (p.Ser459=)
c.1554A= (p.Ser518=)
c.*893A= (n.*893A=)
c.1494A= (p.Ser498=)
c.*1026A= (n.*1026A=)
c.1309A= (n.1309A=)
c.*991A= (n.*991A=)
c.1572A= (p.Ser524=)
c.*852A= (n.*852A=)
c.1680A= (p.Ser560=)
c.1002A= (p.Ser334=)
c.1587A= (p.Ser529=)
c.1456A= (n.1456A=)
c.264A= (p.Ser88=)
c.837A= (p.Ser279=)
c.1515A= (p.Ser505=)
c.1638A= (p.Ser546=)
c.912A= (p.Ser304=)
c.1518A= (p.Ser506=)
n.2423+2576T=
n.1877A=
10g.18539493A>CCA468629636CACNB2,NSUN6c.1608A>C (p.Ser536=)
c.1473A>C (p.Ser491=)
c.1596A>C (p.Ser532=)
c.1668A>C (p.Ser556=)
c.1752A>C (p.Ser584=)
c.1590A>C (p.Ser530=)
c.1377A>C (p.Ser459=)
c.1554A>C (p.Ser518=)
c.*893A>C (n.*893A>C)
c.1494A>C (p.Ser498=)
c.*1026A>C (n.*1026A>C)
c.1309A>C (n.1309A>C)
c.*991A>C (n.*991A>C)
c.1572A>C (p.Ser524=)
c.*852A>C (n.*852A>C)
c.1680A>C (p.Ser560=)
c.1002A>C (p.Ser334=)
c.1587A>C (p.Ser529=)
c.1456A>C (n.1456A>C)
c.264A>C (p.Ser88=)
c.837A>C (p.Ser279=)
c.1515A>C (p.Ser505=)
c.1638A>C (p.Ser546=)
c.912A>C (p.Ser304=)
c.1518A>C (p.Ser506=)
n.2423+2576T>G
n.1877A>C
 ClinVar dbSNP
10g.18539493A>GCA5430157CACNB2,NSUN6c.1608A>G (p.Ser536=)
c.1473A>G (p.Ser491=)
c.1596A>G (p.Ser532=)
c.1668A>G (p.Ser556=)
c.1752A>G (p.Ser584=)
c.1590A>G (p.Ser530=)
c.1377A>G (p.Ser459=)
c.1554A>G (p.Ser518=)
c.*893A>G (n.*893A>G)
c.1494A>G (p.Ser498=)
c.*1026A>G (n.*1026A>G)
c.1309A>G (n.1309A>G)
c.*991A>G (n.*991A>G)
c.1572A>G (p.Ser524=)
c.*852A>G (n.*852A>G)
c.1680A>G (p.Ser560=)
c.1002A>G (p.Ser334=)
c.1587A>G (p.Ser529=)
c.1456A>G (n.1456A>G)
c.264A>G (p.Ser88=)
c.837A>G (p.Ser279=)
c.1515A>G (p.Ser505=)
c.1638A>G (p.Ser546=)
c.912A>G (p.Ser304=)
c.1518A>G (p.Ser506=)
n.2423+2576T>C
n.1877A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539493A>TCA468629642CACNB2,NSUN6c.1608A>T (p.Ser536=)
c.1473A>T (p.Ser491=)
c.1596A>T (p.Ser532=)
c.1668A>T (p.Ser556=)
c.1752A>T (p.Ser584=)
c.1590A>T (p.Ser530=)
c.1377A>T (p.Ser459=)
c.1554A>T (p.Ser518=)
c.*893A>T (n.*893A>T)
c.1494A>T (p.Ser498=)
c.*1026A>T (n.*1026A>T)
c.1309A>T (n.1309A>T)
c.*991A>T (n.*991A>T)
c.1572A>T (p.Ser524=)
c.*852A>T (n.*852A>T)
c.1680A>T (p.Ser560=)
c.1002A>T (p.Ser334=)
c.1587A>T (p.Ser529=)
c.1456A>T (n.1456A>T)
c.264A>T (p.Ser88=)
c.837A>T (p.Ser279=)
c.1515A>T (p.Ser505=)
c.1638A>T (p.Ser546=)
c.912A>T (p.Ser304=)
c.1518A>T (p.Ser506=)
n.2423+2576T>A
n.1877A>T
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

Number of alleles fetched