Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.18539376_18539380dupCA5430113CACNB2,NSUN6c.1491_1495dup (p.Arg499GlnfsTer24)
c.1356_1360dup (p.Arg454GlnfsTer24)
c.1479_1483dup (p.Arg495GlnfsTer24)
c.1551_1555dup (p.Arg519GlnfsTer24)
c.1635_1639dup (p.Arg547GlnfsTer24)
c.1473_1477dup (p.Arg493GlnfsTer24)
c.1260_1264dup (p.Arg422GlnfsTer24)
c.1437_1441dup (p.Arg481GlnfsTer24)
c.*776_*780dup (n.*776_*780dup)
c.1377_1381dup (p.Arg461GlnfsTer24)
c.*909_*913dup (n.*909_*913dup)
c.1192_1196dup (n.1192_1196dup)
c.*874_*878dup (n.*874_*878dup)
c.1455_1459dup (p.Arg487GlnfsTer24)
c.*735_*739dup (n.*735_*739dup)
c.1563_1567dup (p.Arg523GlnfsTer24)
c.885_889dup (p.Arg297GlnfsTer24)
c.1470_1474dup (p.Arg492GlnfsTer24)
c.1339_1343dup (n.1339_1343dup)
c.147_151dup (p.Arg51GlnfsTer24)
c.720_724dup (p.Arg242GlnfsTer24)
c.1398_1402dup (p.Arg468GlnfsTer24)
c.1521_1525dup (p.Arg509GlnfsTer24)
c.795_799dup (p.Arg267GlnfsTer24)
c.1401_1405dup (p.Arg469GlnfsTer24)
n.2423+2690_2423+2694dup
n.1760_1764dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539379T>ACA376071581CACNB2,NSUN6c.1494T>A (p.Ser498Arg)
c.1359T>A (p.Ser453Arg)
c.1482T>A (p.Ser494Arg)
c.1554T>A (p.Ser518Arg)
c.1638T>A (p.Ser546Arg)
c.1476T>A (p.Ser492Arg)
c.1263T>A (p.Ser421Arg)
c.1440T>A (p.Ser480Arg)
c.*779T>A (n.*779T>A)
c.1380T>A (p.Ser460Arg)
c.*912T>A (n.*912T>A)
c.1195T>A (n.1195T>A)
c.*877T>A (n.*877T>A)
c.1458T>A (p.Ser486Arg)
c.*738T>A (n.*738T>A)
c.1566T>A (p.Ser522Arg)
c.888T>A (p.Ser296Arg)
c.1473T>A (p.Ser491Arg)
c.1342T>A (n.1342T>A)
c.150T>A (p.Ser50Arg)
c.723T>A (p.Ser241Arg)
c.1401T>A (p.Ser467Arg)
c.1524T>A (p.Ser508Arg)
c.798T>A (p.Ser266Arg)
c.1404T>A (p.Ser468Arg)
n.2423+2690A>T
n.1763T>A
10g.18539379T>CCA468627949CACNB2,NSUN6c.1494T>C (p.Ser498=)
c.1359T>C (p.Ser453=)
c.1482T>C (p.Ser494=)
c.1554T>C (p.Ser518=)
c.1638T>C (p.Ser546=)
c.1476T>C (p.Ser492=)
c.1263T>C (p.Ser421=)
c.1440T>C (p.Ser480=)
c.*779T>C (n.*779T>C)
c.1380T>C (p.Ser460=)
c.*912T>C (n.*912T>C)
c.1195T>C (n.1195T>C)
c.*877T>C (n.*877T>C)
c.1458T>C (p.Ser486=)
c.*738T>C (n.*738T>C)
c.1566T>C (p.Ser522=)
c.888T>C (p.Ser296=)
c.1473T>C (p.Ser491=)
c.1342T>C (n.1342T>C)
c.150T>C (p.Ser50=)
c.723T>C (p.Ser241=)
c.1401T>C (p.Ser467=)
c.1524T>C (p.Ser508=)
c.798T>C (p.Ser266=)
c.1404T>C (p.Ser468=)
n.2423+2690A>G
n.1763T>C
10g.18539379T>GCA376071583CACNB2,NSUN6c.1494T>G (p.Ser498Arg)
c.1359T>G (p.Ser453Arg)
c.1482T>G (p.Ser494Arg)
c.1554T>G (p.Ser518Arg)
c.1638T>G (p.Ser546Arg)
c.1476T>G (p.Ser492Arg)
c.1263T>G (p.Ser421Arg)
c.1440T>G (p.Ser480Arg)
c.*779T>G (n.*779T>G)
c.1380T>G (p.Ser460Arg)
c.*912T>G (n.*912T>G)
c.1195T>G (n.1195T>G)
c.*877T>G (n.*877T>G)
c.1458T>G (p.Ser486Arg)
c.*738T>G (n.*738T>G)
c.1566T>G (p.Ser522Arg)
c.888T>G (p.Ser296Arg)
c.1473T>G (p.Ser491Arg)
c.1342T>G (n.1342T>G)
c.150T>G (p.Ser50Arg)
c.723T>G (p.Ser241Arg)
c.1401T>G (p.Ser467Arg)
c.1524T>G (p.Ser508Arg)
c.798T>G (p.Ser266Arg)
c.1404T>G (p.Ser468Arg)
n.2423+2690A>C
n.1763T>G
10g.18539380C>ACA376071584CACNB2,NSUN6c.1495C>A (p.Arg499Ser)
c.1360C>A (p.Arg454Ser)
c.1483C>A (p.Arg495Ser)
c.1555C>A (p.Arg519Ser)
c.1639C>A (p.Arg547Ser)
c.1477C>A (p.Arg493Ser)
c.1264C>A (p.Arg422Ser)
c.1441C>A (p.Arg481Ser)
c.*780C>A (n.*780C>A)
c.1381C>A (p.Arg461Ser)
c.*913C>A (n.*913C>A)
c.1196C>A (n.1196C>A)
c.*878C>A (n.*878C>A)
c.1459C>A (p.Arg487Ser)
c.*739C>A (n.*739C>A)
c.1567C>A (p.Arg523Ser)
c.889C>A (p.Arg297Ser)
c.1474C>A (p.Arg492Ser)
c.1343C>A (n.1343C>A)
c.151C>A (p.Arg51Ser)
c.724C>A (p.Arg242Ser)
c.1402C>A (p.Arg468Ser)
c.1525C>A (p.Arg509Ser)
c.799C>A (p.Arg267Ser)
c.1405C>A (p.Arg469Ser)
n.2423+2689G>T
n.1764C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539380C=CA1894173249CACNB2,NSUN6c.1495C= (p.Arg499=)
c.1360C= (p.Arg454=)
c.1483C= (p.Arg495=)
c.1555C= (p.Arg519=)
c.1639C= (p.Arg547=)
c.1477C= (p.Arg493=)
c.1264C= (p.Arg422=)
c.1441C= (p.Arg481=)
c.*780C= (n.*780C=)
c.1381C= (p.Arg461=)
c.*913C= (n.*913C=)
c.1196C= (n.1196C=)
c.*878C= (n.*878C=)
c.1459C= (p.Arg487=)
c.*739C= (n.*739C=)
c.1567C= (p.Arg523=)
c.889C= (p.Arg297=)
c.1474C= (p.Arg492=)
c.1343C= (n.1343C=)
c.151C= (p.Arg51=)
c.724C= (p.Arg242=)
c.1402C= (p.Arg468=)
c.1525C= (p.Arg509=)
c.799C= (p.Arg267=)
c.1405C= (p.Arg469=)
n.2423+2689G=
n.1764C=
10g.18539380C>GCA376071585CACNB2,NSUN6c.1495C>G (p.Arg499Gly)
c.1360C>G (p.Arg454Gly)
c.1483C>G (p.Arg495Gly)
c.1555C>G (p.Arg519Gly)
c.1639C>G (p.Arg547Gly)
c.1477C>G (p.Arg493Gly)
c.1264C>G (p.Arg422Gly)
c.1441C>G (p.Arg481Gly)
c.*780C>G (n.*780C>G)
c.1381C>G (p.Arg461Gly)
c.*913C>G (n.*913C>G)
c.1196C>G (n.1196C>G)
c.*878C>G (n.*878C>G)
c.1459C>G (p.Arg487Gly)
c.*739C>G (n.*739C>G)
c.1567C>G (p.Arg523Gly)
c.889C>G (p.Arg297Gly)
c.1474C>G (p.Arg492Gly)
c.1343C>G (n.1343C>G)
c.151C>G (p.Arg51Gly)
c.724C>G (p.Arg242Gly)
c.1402C>G (p.Arg468Gly)
c.1525C>G (p.Arg509Gly)
c.799C>G (p.Arg267Gly)
c.1405C>G (p.Arg469Gly)
n.2423+2689G>C
n.1764C>G
10g.18539380C>TCA5430116CACNB2,NSUN6c.1495C>T (p.Arg499Cys)
c.1360C>T (p.Arg454Cys)
c.1483C>T (p.Arg495Cys)
c.1555C>T (p.Arg519Cys)
c.1639C>T (p.Arg547Cys)
c.1477C>T (p.Arg493Cys)
c.1264C>T (p.Arg422Cys)
c.1441C>T (p.Arg481Cys)
c.*780C>T (n.*780C>T)
c.1381C>T (p.Arg461Cys)
c.*913C>T (n.*913C>T)
c.1196C>T (n.1196C>T)
c.*878C>T (n.*878C>T)
c.1459C>T (p.Arg487Cys)
c.*739C>T (n.*739C>T)
c.1567C>T (p.Arg523Cys)
c.889C>T (p.Arg297Cys)
c.1474C>T (p.Arg492Cys)
c.1343C>T (n.1343C>T)
c.151C>T (p.Arg51Cys)
c.724C>T (p.Arg242Cys)
c.1402C>T (p.Arg468Cys)
c.1525C>T (p.Arg509Cys)
c.799C>T (p.Arg267Cys)
c.1405C>T (p.Arg469Cys)
n.2423+2689G>A
n.1764C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539381G>ACA5430117CACNB2,NSUN6c.1496G>A (p.Arg499His)
c.1361G>A (p.Arg454His)
c.1484G>A (p.Arg495His)
c.1556G>A (p.Arg519His)
c.1640G>A (p.Arg547His)
c.1478G>A (p.Arg493His)
c.1265G>A (p.Arg422His)
c.1442G>A (p.Arg481His)
c.*781G>A (n.*781G>A)
c.1382G>A (p.Arg461His)
c.*914G>A (n.*914G>A)
c.1197G>A (n.1197G>A)
c.*879G>A (n.*879G>A)
c.1460G>A (p.Arg487His)
c.*740G>A (n.*740G>A)
c.1568G>A (p.Arg523His)
c.890G>A (p.Arg297His)
c.1475G>A (p.Arg492His)
c.1344G>A (n.1344G>A)
c.152G>A (p.Arg51His)
c.725G>A (p.Arg242His)
c.1403G>A (p.Arg468His)
c.1526G>A (p.Arg509His)
c.800G>A (p.Arg267His)
c.1406G>A (p.Arg469His)
n.2423+2688C>T
n.1765G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539381G>CCA376071588CACNB2,NSUN6c.1496G>C (p.Arg499Pro)
c.1361G>C (p.Arg454Pro)
c.1484G>C (p.Arg495Pro)
c.1556G>C (p.Arg519Pro)
c.1640G>C (p.Arg547Pro)
c.1478G>C (p.Arg493Pro)
c.1265G>C (p.Arg422Pro)
c.1442G>C (p.Arg481Pro)
c.*781G>C (n.*781G>C)
c.1382G>C (p.Arg461Pro)
c.*914G>C (n.*914G>C)
c.1197G>C (n.1197G>C)
c.*879G>C (n.*879G>C)
c.1460G>C (p.Arg487Pro)
c.*740G>C (n.*740G>C)
c.1568G>C (p.Arg523Pro)
c.890G>C (p.Arg297Pro)
c.1475G>C (p.Arg492Pro)
c.1344G>C (n.1344G>C)
c.152G>C (p.Arg51Pro)
c.725G>C (p.Arg242Pro)
c.1403G>C (p.Arg468Pro)
c.1526G>C (p.Arg509Pro)
c.800G>C (p.Arg267Pro)
c.1406G>C (p.Arg469Pro)
n.2423+2688C>G
n.1765G>C
 dbSNP gnomAD v3 gnomAD v4
10g.18539381G=CA1894173255CACNB2,NSUN6c.1496G= (p.Arg499=)
c.1361G= (p.Arg454=)
c.1484G= (p.Arg495=)
c.1556G= (p.Arg519=)
c.1640G= (p.Arg547=)
c.1478G= (p.Arg493=)
c.1265G= (p.Arg422=)
c.1442G= (p.Arg481=)
c.*781G= (n.*781G=)
c.1382G= (p.Arg461=)
c.*914G= (n.*914G=)
c.1197G= (n.1197G=)
c.*879G= (n.*879G=)
c.1460G= (p.Arg487=)
c.*740G= (n.*740G=)
c.1568G= (p.Arg523=)
c.890G= (p.Arg297=)
c.1475G= (p.Arg492=)
c.1344G= (n.1344G=)
c.152G= (p.Arg51=)
c.725G= (p.Arg242=)
c.1403G= (p.Arg468=)
c.1526G= (p.Arg509=)
c.800G= (p.Arg267=)
c.1406G= (p.Arg469=)
n.2423+2688C=
n.1765G=
10g.18539381G>TCA376071586CACNB2,NSUN6c.1496G>T (p.Arg499Leu)
c.1361G>T (p.Arg454Leu)
c.1484G>T (p.Arg495Leu)
c.1556G>T (p.Arg519Leu)
c.1640G>T (p.Arg547Leu)
c.1478G>T (p.Arg493Leu)
c.1265G>T (p.Arg422Leu)
c.1442G>T (p.Arg481Leu)
c.*781G>T (n.*781G>T)
c.1382G>T (p.Arg461Leu)
c.*914G>T (n.*914G>T)
c.1197G>T (n.1197G>T)
c.*879G>T (n.*879G>T)
c.1460G>T (p.Arg487Leu)
c.*740G>T (n.*740G>T)
c.1568G>T (p.Arg523Leu)
c.890G>T (p.Arg297Leu)
c.1475G>T (p.Arg492Leu)
c.1344G>T (n.1344G>T)
c.152G>T (p.Arg51Leu)
c.725G>T (p.Arg242Leu)
c.1403G>T (p.Arg468Leu)
c.1526G>T (p.Arg509Leu)
c.800G>T (p.Arg267Leu)
c.1406G>T (p.Arg469Leu)
n.2423+2688C>A
n.1765G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539382C>ACA468627965CACNB2,NSUN6c.1497C>A (p.Arg499=)
c.1362C>A (p.Arg454=)
c.1485C>A (p.Arg495=)
c.1557C>A (p.Arg519=)
c.1641C>A (p.Arg547=)
c.1479C>A (p.Arg493=)
c.1266C>A (p.Arg422=)
c.1443C>A (p.Arg481=)
c.*782C>A (n.*782C>A)
c.1383C>A (p.Arg461=)
c.*915C>A (n.*915C>A)
c.1198C>A (n.1198C>A)
c.*880C>A (n.*880C>A)
c.1461C>A (p.Arg487=)
c.*741C>A (n.*741C>A)
c.1569C>A (p.Arg523=)
c.891C>A (p.Arg297=)
c.1476C>A (p.Arg492=)
c.1345C>A (n.1345C>A)
c.153C>A (p.Arg51=)
c.726C>A (p.Arg242=)
c.1404C>A (p.Arg468=)
c.1527C>A (p.Arg509=)
c.801C>A (p.Arg267=)
c.1407C>A (p.Arg469=)
n.2423+2687G>T
n.1766C>A
10g.18539382C=CA1894173260CACNB2,NSUN6c.1497C= (p.Arg499=)
c.1362C= (p.Arg454=)
c.1485C= (p.Arg495=)
c.1557C= (p.Arg519=)
c.1641C= (p.Arg547=)
c.1479C= (p.Arg493=)
c.1266C= (p.Arg422=)
c.1443C= (p.Arg481=)
c.*782C= (n.*782C=)
c.1383C= (p.Arg461=)
c.*915C= (n.*915C=)
c.1198C= (n.1198C=)
c.*880C= (n.*880C=)
c.1461C= (p.Arg487=)
c.*741C= (n.*741C=)
c.1569C= (p.Arg523=)
c.891C= (p.Arg297=)
c.1476C= (p.Arg492=)
c.1345C= (n.1345C=)
c.153C= (p.Arg51=)
c.726C= (p.Arg242=)
c.1404C= (p.Arg468=)
c.1527C= (p.Arg509=)
c.801C= (p.Arg267=)
c.1407C= (p.Arg469=)
n.2423+2687G=
n.1766C=
10g.18539382C>GCA468627968CACNB2,NSUN6c.1497C>G (p.Arg499=)
c.1362C>G (p.Arg454=)
c.1485C>G (p.Arg495=)
c.1557C>G (p.Arg519=)
c.1641C>G (p.Arg547=)
c.1479C>G (p.Arg493=)
c.1266C>G (p.Arg422=)
c.1443C>G (p.Arg481=)
c.*782C>G (n.*782C>G)
c.1383C>G (p.Arg461=)
c.*915C>G (n.*915C>G)
c.1198C>G (n.1198C>G)
c.*880C>G (n.*880C>G)
c.1461C>G (p.Arg487=)
c.*741C>G (n.*741C>G)
c.1569C>G (p.Arg523=)
c.891C>G (p.Arg297=)
c.1476C>G (p.Arg492=)
c.1345C>G (n.1345C>G)
c.153C>G (p.Arg51=)
c.726C>G (p.Arg242=)
c.1404C>G (p.Arg468=)
c.1527C>G (p.Arg509=)
c.801C>G (p.Arg267=)
c.1407C>G (p.Arg469=)
n.2423+2687G>C
n.1766C>G
10g.18539382C>TCA5430118CACNB2,NSUN6c.1497C>T (p.Arg499=)
c.1362C>T (p.Arg454=)
c.1485C>T (p.Arg495=)
c.1557C>T (p.Arg519=)
c.1641C>T (p.Arg547=)
c.1479C>T (p.Arg493=)
c.1266C>T (p.Arg422=)
c.1443C>T (p.Arg481=)
c.*782C>T (n.*782C>T)
c.1383C>T (p.Arg461=)
c.*915C>T (n.*915C>T)
c.1198C>T (n.1198C>T)
c.*880C>T (n.*880C>T)
c.1461C>T (p.Arg487=)
c.*741C>T (n.*741C>T)
c.1569C>T (p.Arg523=)
c.891C>T (p.Arg297=)
c.1476C>T (p.Arg492=)
c.1345C>T (n.1345C>T)
c.153C>T (p.Arg51=)
c.726C>T (p.Arg242=)
c.1404C>T (p.Arg468=)
c.1527C>T (p.Arg509=)
c.801C>T (p.Arg267=)
c.1407C>T (p.Arg469=)
n.2423+2687G>A
n.1766C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.18539383G>ACA301862CACNB2,NSUN6c.1498G>A (p.Gly500Ser)
c.1363G>A (p.Gly455Ser)
c.1486G>A (p.Gly496Ser)
c.1558G>A (p.Gly520Ser)
c.1642G>A (p.Gly548Ser)
c.1480G>A (p.Gly494Ser)
c.1267G>A (p.Gly423Ser)
c.1444G>A (p.Gly482Ser)
c.*783G>A (n.*783G>A)
c.1384G>A (p.Gly462Ser)
c.*916G>A (n.*916G>A)
c.1199G>A (n.1199G>A)
c.*881G>A (n.*881G>A)
c.1462G>A (p.Gly488Ser)
c.*742G>A (n.*742G>A)
c.1570G>A (p.Gly524Ser)
c.892G>A (p.Gly298Ser)
c.1477G>A (p.Gly493Ser)
c.1346G>A (n.1346G>A)
c.154G>A (p.Gly52Ser)
c.727G>A (p.Gly243Ser)
c.1405G>A (p.Gly469Ser)
c.1528G>A (p.Gly510Ser)
c.802G>A (p.Gly268Ser)
c.1408G>A (p.Gly470Ser)
n.2423+2686C>T
n.1767G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539383G>CCA376071591CACNB2,NSUN6c.1498G>C (p.Gly500Arg)
c.1363G>C (p.Gly455Arg)
c.1486G>C (p.Gly496Arg)
c.1558G>C (p.Gly520Arg)
c.1642G>C (p.Gly548Arg)
c.1480G>C (p.Gly494Arg)
c.1267G>C (p.Gly423Arg)
c.1444G>C (p.Gly482Arg)
c.*783G>C (n.*783G>C)
c.1384G>C (p.Gly462Arg)
c.*916G>C (n.*916G>C)
c.1199G>C (n.1199G>C)
c.*881G>C (n.*881G>C)
c.1462G>C (p.Gly488Arg)
c.*742G>C (n.*742G>C)
c.1570G>C (p.Gly524Arg)
c.892G>C (p.Gly298Arg)
c.1477G>C (p.Gly493Arg)
c.1346G>C (n.1346G>C)
c.154G>C (p.Gly52Arg)
c.727G>C (p.Gly243Arg)
c.1405G>C (p.Gly469Arg)
c.1528G>C (p.Gly510Arg)
c.802G>C (p.Gly268Arg)
c.1408G>C (p.Gly470Arg)
n.2423+2686C>G
n.1767G>C
10g.18539383G=CA1894173265CACNB2,NSUN6c.1498G= (p.Gly500=)
c.1363G= (p.Gly455=)
c.1486G= (p.Gly496=)
c.1558G= (p.Gly520=)
c.1642G= (p.Gly548=)
c.1480G= (p.Gly494=)
c.1267G= (p.Gly423=)
c.1444G= (p.Gly482=)
c.*783G= (n.*783G=)
c.1384G= (p.Gly462=)
c.*916G= (n.*916G=)
c.1199G= (n.1199G=)
c.*881G= (n.*881G=)
c.1462G= (p.Gly488=)
c.*742G= (n.*742G=)
c.1570G= (p.Gly524=)
c.892G= (p.Gly298=)
c.1477G= (p.Gly493=)
c.1346G= (n.1346G=)
c.154G= (p.Gly52=)
c.727G= (p.Gly243=)
c.1405G= (p.Gly469=)
c.1528G= (p.Gly510=)
c.802G= (p.Gly268=)
c.1408G= (p.Gly470=)
n.2423+2686C=
n.1767G=
10g.18539383G>TCA376071593CACNB2,NSUN6c.1498G>T (p.Gly500Cys)
c.1363G>T (p.Gly455Cys)
c.1486G>T (p.Gly496Cys)
c.1558G>T (p.Gly520Cys)
c.1642G>T (p.Gly548Cys)
c.1480G>T (p.Gly494Cys)
c.1267G>T (p.Gly423Cys)
c.1444G>T (p.Gly482Cys)
c.*783G>T (n.*783G>T)
c.1384G>T (p.Gly462Cys)
c.*916G>T (n.*916G>T)
c.1199G>T (n.1199G>T)
c.*881G>T (n.*881G>T)
c.1462G>T (p.Gly488Cys)
c.*742G>T (n.*742G>T)
c.1570G>T (p.Gly524Cys)
c.892G>T (p.Gly298Cys)
c.1477G>T (p.Gly493Cys)
c.1346G>T (n.1346G>T)
c.154G>T (p.Gly52Cys)
c.727G>T (p.Gly243Cys)
c.1405G>T (p.Gly469Cys)
c.1528G>T (p.Gly510Cys)
c.802G>T (p.Gly268Cys)
c.1408G>T (p.Gly470Cys)
n.2423+2686C>A
n.1767G>T
10g.18539384G>ACA376071595CACNB2,NSUN6c.1499G>A (p.Gly500Asp)
c.1364G>A (p.Gly455Asp)
c.1487G>A (p.Gly496Asp)
c.1559G>A (p.Gly520Asp)
c.1643G>A (p.Gly548Asp)
c.1481G>A (p.Gly494Asp)
c.1268G>A (p.Gly423Asp)
c.1445G>A (p.Gly482Asp)
c.*784G>A (n.*784G>A)
c.1385G>A (p.Gly462Asp)
c.*917G>A (n.*917G>A)
c.1200G>A (n.1200G>A)
c.*882G>A (n.*882G>A)
c.1463G>A (p.Gly488Asp)
c.*743G>A (n.*743G>A)
c.1571G>A (p.Gly524Asp)
c.893G>A (p.Gly298Asp)
c.1478G>A (p.Gly493Asp)
c.1347G>A (n.1347G>A)
c.155G>A (p.Gly52Asp)
c.728G>A (p.Gly243Asp)
c.1406G>A (p.Gly469Asp)
c.1529G>A (p.Gly510Asp)
c.803G>A (p.Gly268Asp)
c.1409G>A (p.Gly470Asp)
n.2423+2685C>T
n.1768G>A
10g.18539384G>CCA376071597CACNB2,NSUN6c.1499G>C (p.Gly500Ala)
c.1364G>C (p.Gly455Ala)
c.1487G>C (p.Gly496Ala)
c.1559G>C (p.Gly520Ala)
c.1643G>C (p.Gly548Ala)
c.1481G>C (p.Gly494Ala)
c.1268G>C (p.Gly423Ala)
c.1445G>C (p.Gly482Ala)
c.*784G>C (n.*784G>C)
c.1385G>C (p.Gly462Ala)
c.*917G>C (n.*917G>C)
c.1200G>C (n.1200G>C)
c.*882G>C (n.*882G>C)
c.1463G>C (p.Gly488Ala)
c.*743G>C (n.*743G>C)
c.1571G>C (p.Gly524Ala)
c.893G>C (p.Gly298Ala)
c.1478G>C (p.Gly493Ala)
c.1347G>C (n.1347G>C)
c.155G>C (p.Gly52Ala)
c.728G>C (p.Gly243Ala)
c.1406G>C (p.Gly469Ala)
c.1529G>C (p.Gly510Ala)
c.803G>C (p.Gly268Ala)
c.1409G>C (p.Gly470Ala)
n.2423+2685C>G
n.1768G>C
10g.18539384G>TCA376071598CACNB2,NSUN6c.1499G>T (p.Gly500Val)
c.1364G>T (p.Gly455Val)
c.1487G>T (p.Gly496Val)
c.1559G>T (p.Gly520Val)
c.1643G>T (p.Gly548Val)
c.1481G>T (p.Gly494Val)
c.1268G>T (p.Gly423Val)
c.1445G>T (p.Gly482Val)
c.*784G>T (n.*784G>T)
c.1385G>T (p.Gly462Val)
c.*917G>T (n.*917G>T)
c.1200G>T (n.1200G>T)
c.*882G>T (n.*882G>T)
c.1463G>T (p.Gly488Val)
c.*743G>T (n.*743G>T)
c.1571G>T (p.Gly524Val)
c.893G>T (p.Gly298Val)
c.1478G>T (p.Gly493Val)
c.1347G>T (n.1347G>T)
c.155G>T (p.Gly52Val)
c.728G>T (p.Gly243Val)
c.1406G>T (p.Gly469Val)
c.1529G>T (p.Gly510Val)
c.803G>T (p.Gly268Val)
c.1409G>T (p.Gly470Val)
n.2423+2685C>A
n.1768G>T
10g.18539385C>ACA468627992CACNB2,NSUN6c.1500C>A (p.Gly500=)
c.1365C>A (p.Gly455=)
c.1488C>A (p.Gly496=)
c.1560C>A (p.Gly520=)
c.1644C>A (p.Gly548=)
c.1482C>A (p.Gly494=)
c.1269C>A (p.Gly423=)
c.1446C>A (p.Gly482=)
c.*785C>A (n.*785C>A)
c.1386C>A (p.Gly462=)
c.*918C>A (n.*918C>A)
c.1201C>A (n.1201C>A)
c.*883C>A (n.*883C>A)
c.1464C>A (p.Gly488=)
c.*744C>A (n.*744C>A)
c.1572C>A (p.Gly524=)
c.894C>A (p.Gly298=)
c.1479C>A (p.Gly493=)
c.1348C>A (n.1348C>A)
c.156C>A (p.Gly52=)
c.729C>A (p.Gly243=)
c.1407C>A (p.Gly469=)
c.1530C>A (p.Gly510=)
c.804C>A (p.Gly268=)
c.1410C>A (p.Gly470=)
n.2423+2684G>T
n.1769C>A
10g.18539385C>GCA468627997CACNB2,NSUN6c.1500C>G (p.Gly500=)
c.1365C>G (p.Gly455=)
c.1488C>G (p.Gly496=)
c.1560C>G (p.Gly520=)
c.1644C>G (p.Gly548=)
c.1482C>G (p.Gly494=)
c.1269C>G (p.Gly423=)
c.1446C>G (p.Gly482=)
c.*785C>G (n.*785C>G)
c.1386C>G (p.Gly462=)
c.*918C>G (n.*918C>G)
c.1201C>G (n.1201C>G)
c.*883C>G (n.*883C>G)
c.1464C>G (p.Gly488=)
c.*744C>G (n.*744C>G)
c.1572C>G (p.Gly524=)
c.894C>G (p.Gly298=)
c.1479C>G (p.Gly493=)
c.1348C>G (n.1348C>G)
c.156C>G (p.Gly52=)
c.729C>G (p.Gly243=)
c.1407C>G (p.Gly469=)
c.1530C>G (p.Gly510=)
c.804C>G (p.Gly268=)
c.1410C>G (p.Gly470=)
n.2423+2684G>C
n.1769C>G
10g.18539385C>TCA468628000CACNB2,NSUN6c.1500C>T (p.Gly500=)
c.1365C>T (p.Gly455=)
c.1488C>T (p.Gly496=)
c.1560C>T (p.Gly520=)
c.1644C>T (p.Gly548=)
c.1482C>T (p.Gly494=)
c.1269C>T (p.Gly423=)
c.1446C>T (p.Gly482=)
c.*785C>T (n.*785C>T)
c.1386C>T (p.Gly462=)
c.*918C>T (n.*918C>T)
c.1201C>T (n.1201C>T)
c.*883C>T (n.*883C>T)
c.1464C>T (p.Gly488=)
c.*744C>T (n.*744C>T)
c.1572C>T (p.Gly524=)
c.894C>T (p.Gly298=)
c.1479C>T (p.Gly493=)
c.1348C>T (n.1348C>T)
c.156C>T (p.Gly52=)
c.729C>T (p.Gly243=)
c.1407C>T (p.Gly469=)
c.1530C>T (p.Gly510=)
c.804C>T (p.Gly268=)
c.1410C>T (p.Gly470=)
n.2423+2684G>A
n.1769C>T
10g.18539386C>ACA376071603CACNB2,NSUN6c.1501C>A (p.Leu501Ile)
c.1366C>A (p.Leu456Ile)
c.1489C>A (p.Leu497Ile)
c.1561C>A (p.Leu521Ile)
c.1645C>A (p.Leu549Ile)
c.1483C>A (p.Leu495Ile)
c.1270C>A (p.Leu424Ile)
c.1447C>A (p.Leu483Ile)
c.*786C>A (n.*786C>A)
c.1387C>A (p.Leu463Ile)
c.*919C>A (n.*919C>A)
c.1202C>A (n.1202C>A)
c.*884C>A (n.*884C>A)
c.1465C>A (p.Leu489Ile)
c.*745C>A (n.*745C>A)
c.1573C>A (p.Leu525Ile)
c.895C>A (p.Leu299Ile)
c.1480C>A (p.Leu494Ile)
c.1349C>A (n.1349C>A)
c.157C>A (p.Leu53Ile)
c.730C>A (p.Leu244Ile)
c.1408C>A (p.Leu470Ile)
c.1531C>A (p.Leu511Ile)
c.805C>A (p.Leu269Ile)
c.1411C>A (p.Leu471Ile)
n.2423+2683G>T
n.1770C>A
10g.18539386C>GCA376071601CACNB2,NSUN6c.1501C>G (p.Leu501Val)
c.1366C>G (p.Leu456Val)
c.1489C>G (p.Leu497Val)
c.1561C>G (p.Leu521Val)
c.1645C>G (p.Leu549Val)
c.1483C>G (p.Leu495Val)
c.1270C>G (p.Leu424Val)
c.1447C>G (p.Leu483Val)
c.*786C>G (n.*786C>G)
c.1387C>G (p.Leu463Val)
c.*919C>G (n.*919C>G)
c.1202C>G (n.1202C>G)
c.*884C>G (n.*884C>G)
c.1465C>G (p.Leu489Val)
c.*745C>G (n.*745C>G)
c.1573C>G (p.Leu525Val)
c.895C>G (p.Leu299Val)
c.1480C>G (p.Leu494Val)
c.1349C>G (n.1349C>G)
c.157C>G (p.Leu53Val)
c.730C>G (p.Leu244Val)
c.1408C>G (p.Leu470Val)
c.1531C>G (p.Leu511Val)
c.805C>G (p.Leu269Val)
c.1411C>G (p.Leu471Val)
n.2423+2683G>C
n.1770C>G
10g.18539386C>TCA376071600CACNB2,NSUN6c.1501C>T (p.Leu501Phe)
c.1366C>T (p.Leu456Phe)
c.1489C>T (p.Leu497Phe)
c.1561C>T (p.Leu521Phe)
c.1645C>T (p.Leu549Phe)
c.1483C>T (p.Leu495Phe)
c.1270C>T (p.Leu424Phe)
c.1447C>T (p.Leu483Phe)
c.*786C>T (n.*786C>T)
c.1387C>T (p.Leu463Phe)
c.*919C>T (n.*919C>T)
c.1202C>T (n.1202C>T)
c.*884C>T (n.*884C>T)
c.1465C>T (p.Leu489Phe)
c.*745C>T (n.*745C>T)
c.1573C>T (p.Leu525Phe)
c.895C>T (p.Leu299Phe)
c.1480C>T (p.Leu494Phe)
c.1349C>T (n.1349C>T)
c.157C>T (p.Leu53Phe)
c.730C>T (p.Leu244Phe)
c.1408C>T (p.Leu470Phe)
c.1531C>T (p.Leu511Phe)
c.805C>T (p.Leu269Phe)
c.1411C>T (p.Leu471Phe)
n.2423+2683G>A
n.1770C>T
 ClinVar
10g.18539387T>ACA376071605CACNB2,NSUN6c.1502T>A (p.Leu501His)
c.1367T>A (p.Leu456His)
c.1490T>A (p.Leu497His)
c.1562T>A (p.Leu521His)
c.1646T>A (p.Leu549His)
c.1484T>A (p.Leu495His)
c.1271T>A (p.Leu424His)
c.1448T>A (p.Leu483His)
c.*787T>A (n.*787T>A)
c.1388T>A (p.Leu463His)
c.*920T>A (n.*920T>A)
c.1203T>A (n.1203T>A)
c.*885T>A (n.*885T>A)
c.1466T>A (p.Leu489His)
c.*746T>A (n.*746T>A)
c.1574T>A (p.Leu525His)
c.896T>A (p.Leu299His)
c.1481T>A (p.Leu494His)
c.1350T>A (n.1350T>A)
c.158T>A (p.Leu53His)
c.731T>A (p.Leu244His)
c.1409T>A (p.Leu470His)
c.1532T>A (p.Leu511His)
c.806T>A (p.Leu269His)
c.1412T>A (p.Leu471His)
n.2423+2682A>T
n.1771T>A
10g.18539387T>CCA376071606CACNB2,NSUN6c.1502T>C (p.Leu501Pro)
c.1367T>C (p.Leu456Pro)
c.1490T>C (p.Leu497Pro)
c.1562T>C (p.Leu521Pro)
c.1646T>C (p.Leu549Pro)
c.1484T>C (p.Leu495Pro)
c.1271T>C (p.Leu424Pro)
c.1448T>C (p.Leu483Pro)
c.*787T>C (n.*787T>C)
c.1388T>C (p.Leu463Pro)
c.*920T>C (n.*920T>C)
c.1203T>C (n.1203T>C)
c.*885T>C (n.*885T>C)
c.1466T>C (p.Leu489Pro)
c.*746T>C (n.*746T>C)
c.1574T>C (p.Leu525Pro)
c.896T>C (p.Leu299Pro)
c.1481T>C (p.Leu494Pro)
c.1350T>C (n.1350T>C)
c.158T>C (p.Leu53Pro)
c.731T>C (p.Leu244Pro)
c.1409T>C (p.Leu470Pro)
c.1532T>C (p.Leu511Pro)
c.806T>C (p.Leu269Pro)
c.1412T>C (p.Leu471Pro)
n.2423+2682A>G
n.1771T>C
10g.18539387T>GCA376071608CACNB2,NSUN6c.1502T>G (p.Leu501Arg)
c.1367T>G (p.Leu456Arg)
c.1490T>G (p.Leu497Arg)
c.1562T>G (p.Leu521Arg)
c.1646T>G (p.Leu549Arg)
c.1484T>G (p.Leu495Arg)
c.1271T>G (p.Leu424Arg)
c.1448T>G (p.Leu483Arg)
c.*787T>G (n.*787T>G)
c.1388T>G (p.Leu463Arg)
c.*920T>G (n.*920T>G)
c.1203T>G (n.1203T>G)
c.*885T>G (n.*885T>G)
c.1466T>G (p.Leu489Arg)
c.*746T>G (n.*746T>G)
c.1574T>G (p.Leu525Arg)
c.896T>G (p.Leu299Arg)
c.1481T>G (p.Leu494Arg)
c.1350T>G (n.1350T>G)
c.158T>G (p.Leu53Arg)
c.731T>G (p.Leu244Arg)
c.1409T>G (p.Leu470Arg)
c.1532T>G (p.Leu511Arg)
c.806T>G (p.Leu269Arg)
c.1412T>G (p.Leu471Arg)
n.2423+2682A>C
n.1771T>G
10g.18539388C>ACA468628044CACNB2,NSUN6c.1503C>A (p.Leu501=)
c.1368C>A (p.Leu456=)
c.1491C>A (p.Leu497=)
c.1563C>A (p.Leu521=)
c.1647C>A (p.Leu549=)
c.1485C>A (p.Leu495=)
c.1272C>A (p.Leu424=)
c.1449C>A (p.Leu483=)
c.*788C>A (n.*788C>A)
c.1389C>A (p.Leu463=)
c.*921C>A (n.*921C>A)
c.1204C>A (n.1204C>A)
c.*886C>A (n.*886C>A)
c.1467C>A (p.Leu489=)
c.*747C>A (n.*747C>A)
c.1575C>A (p.Leu525=)
c.897C>A (p.Leu299=)
c.1482C>A (p.Leu494=)
c.1351C>A (n.1351C>A)
c.159C>A (p.Leu53=)
c.732C>A (p.Leu244=)
c.1410C>A (p.Leu470=)
c.1533C>A (p.Leu511=)
c.807C>A (p.Leu269=)
c.1413C>A (p.Leu471=)
n.2423+2681G>T
n.1772C>A
10g.18539388C>GCA468628040CACNB2,NSUN6c.1503C>G (p.Leu501=)
c.1368C>G (p.Leu456=)
c.1491C>G (p.Leu497=)
c.1563C>G (p.Leu521=)
c.1647C>G (p.Leu549=)
c.1485C>G (p.Leu495=)
c.1272C>G (p.Leu424=)
c.1449C>G (p.Leu483=)
c.*788C>G (n.*788C>G)
c.1389C>G (p.Leu463=)
c.*921C>G (n.*921C>G)
c.1204C>G (n.1204C>G)
c.*886C>G (n.*886C>G)
c.1467C>G (p.Leu489=)
c.*747C>G (n.*747C>G)
c.1575C>G (p.Leu525=)
c.897C>G (p.Leu299=)
c.1482C>G (p.Leu494=)
c.1351C>G (n.1351C>G)
c.159C>G (p.Leu53=)
c.732C>G (p.Leu244=)
c.1410C>G (p.Leu470=)
c.1533C>G (p.Leu511=)
c.807C>G (p.Leu269=)
c.1413C>G (p.Leu471=)
n.2423+2681G>C
n.1772C>G
10g.18539388C>TCA468628034CACNB2,NSUN6c.1503C>T (p.Leu501=)
c.1368C>T (p.Leu456=)
c.1491C>T (p.Leu497=)
c.1563C>T (p.Leu521=)
c.1647C>T (p.Leu549=)
c.1485C>T (p.Leu495=)
c.1272C>T (p.Leu424=)
c.1449C>T (p.Leu483=)
c.*788C>T (n.*788C>T)
c.1389C>T (p.Leu463=)
c.*921C>T (n.*921C>T)
c.1204C>T (n.1204C>T)
c.*886C>T (n.*886C>T)
c.1467C>T (p.Leu489=)
c.*747C>T (n.*747C>T)
c.1575C>T (p.Leu525=)
c.897C>T (p.Leu299=)
c.1482C>T (p.Leu494=)
c.1351C>T (n.1351C>T)
c.159C>T (p.Leu53=)
c.732C>T (p.Leu244=)
c.1410C>T (p.Leu470=)
c.1533C>T (p.Leu511=)
c.807C>T (p.Leu269=)
c.1413C>T (p.Leu471=)
n.2423+2681G>A
n.1772C>T
10g.18539389T>ACA376071611CACNB2,NSUN6c.1504T>A (p.Ser502Thr)
c.1369T>A (p.Ser457Thr)
c.1492T>A (p.Ser498Thr)
c.1564T>A (p.Ser522Thr)
c.1648T>A (p.Ser550Thr)
c.1486T>A (p.Ser496Thr)
c.1273T>A (p.Ser425Thr)
c.1450T>A (p.Ser484Thr)
c.*789T>A (n.*789T>A)
c.1390T>A (p.Ser464Thr)
c.*922T>A (n.*922T>A)
c.1205T>A (n.1205T>A)
c.*887T>A (n.*887T>A)
c.1468T>A (p.Ser490Thr)
c.*748T>A (n.*748T>A)
c.1576T>A (p.Ser526Thr)
c.898T>A (p.Ser300Thr)
c.1483T>A (p.Ser495Thr)
c.1352T>A (n.1352T>A)
c.160T>A (p.Ser54Thr)
c.733T>A (p.Ser245Thr)
c.1411T>A (p.Ser471Thr)
c.1534T>A (p.Ser512Thr)
c.808T>A (p.Ser270Thr)
c.1414T>A (p.Ser472Thr)
n.2423+2680A>T
n.1773T>A
10g.18539389T>CCA376071612CACNB2,NSUN6c.1504T>C (p.Ser502Pro)
c.1369T>C (p.Ser457Pro)
c.1492T>C (p.Ser498Pro)
c.1564T>C (p.Ser522Pro)
c.1648T>C (p.Ser550Pro)
c.1486T>C (p.Ser496Pro)
c.1273T>C (p.Ser425Pro)
c.1450T>C (p.Ser484Pro)
c.*789T>C (n.*789T>C)
c.1390T>C (p.Ser464Pro)
c.*922T>C (n.*922T>C)
c.1205T>C (n.1205T>C)
c.*887T>C (n.*887T>C)
c.1468T>C (p.Ser490Pro)
c.*748T>C (n.*748T>C)
c.1576T>C (p.Ser526Pro)
c.898T>C (p.Ser300Pro)
c.1483T>C (p.Ser495Pro)
c.1352T>C (n.1352T>C)
c.160T>C (p.Ser54Pro)
c.733T>C (p.Ser245Pro)
c.1411T>C (p.Ser471Pro)
c.1534T>C (p.Ser512Pro)
c.808T>C (p.Ser270Pro)
c.1414T>C (p.Ser472Pro)
n.2423+2680A>G
n.1773T>C
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539389T>GCA376071613CACNB2,NSUN6c.1504T>G (p.Ser502Ala)
c.1369T>G (p.Ser457Ala)
c.1492T>G (p.Ser498Ala)
c.1564T>G (p.Ser522Ala)
c.1648T>G (p.Ser550Ala)
c.1486T>G (p.Ser496Ala)
c.1273T>G (p.Ser425Ala)
c.1450T>G (p.Ser484Ala)
c.*789T>G (n.*789T>G)
c.1390T>G (p.Ser464Ala)
c.*922T>G (n.*922T>G)
c.1205T>G (n.1205T>G)
c.*887T>G (n.*887T>G)
c.1468T>G (p.Ser490Ala)
c.*748T>G (n.*748T>G)
c.1576T>G (p.Ser526Ala)
c.898T>G (p.Ser300Ala)
c.1483T>G (p.Ser495Ala)
c.1352T>G (n.1352T>G)
c.160T>G (p.Ser54Ala)
c.733T>G (p.Ser245Ala)
c.1411T>G (p.Ser471Ala)
c.1534T>G (p.Ser512Ala)
c.808T>G (p.Ser270Ala)
c.1414T>G (p.Ser472Ala)
n.2423+2680A>C
n.1773T>G
10g.18539390C>ACA376071616CACNB2,NSUN6c.1505C>A (p.Ser502Tyr)
c.1370C>A (p.Ser457Tyr)
c.1493C>A (p.Ser498Tyr)
c.1565C>A (p.Ser522Tyr)
c.1649C>A (p.Ser550Tyr)
c.1487C>A (p.Ser496Tyr)
c.1274C>A (p.Ser425Tyr)
c.1451C>A (p.Ser484Tyr)
c.*790C>A (n.*790C>A)
c.1391C>A (p.Ser464Tyr)
c.*923C>A (n.*923C>A)
c.1206C>A (n.1206C>A)
c.*888C>A (n.*888C>A)
c.1469C>A (p.Ser490Tyr)
c.*749C>A (n.*749C>A)
c.1577C>A (p.Ser526Tyr)
c.899C>A (p.Ser300Tyr)
c.1484C>A (p.Ser495Tyr)
c.1353C>A (n.1353C>A)
c.161C>A (p.Ser54Tyr)
c.734C>A (p.Ser245Tyr)
c.1412C>A (p.Ser471Tyr)
c.1535C>A (p.Ser512Tyr)
c.809C>A (p.Ser270Tyr)
c.1415C>A (p.Ser472Tyr)
n.2423+2679G>T
n.1774C>A
10g.18539390C=CA1894173270CACNB2,NSUN6c.1505C= (p.Ser502=)
c.1370C= (p.Ser457=)
c.1493C= (p.Ser498=)
c.1565C= (p.Ser522=)
c.1649C= (p.Ser550=)
c.1487C= (p.Ser496=)
c.1274C= (p.Ser425=)
c.1451C= (p.Ser484=)
c.*790C= (n.*790C=)
c.1391C= (p.Ser464=)
c.*923C= (n.*923C=)
c.1206C= (n.1206C=)
c.*888C= (n.*888C=)
c.1469C= (p.Ser490=)
c.*749C= (n.*749C=)
c.1577C= (p.Ser526=)
c.899C= (p.Ser300=)
c.1484C= (p.Ser495=)
c.1353C= (n.1353C=)
c.161C= (p.Ser54=)
c.734C= (p.Ser245=)
c.1412C= (p.Ser471=)
c.1535C= (p.Ser512=)
c.809C= (p.Ser270=)
c.1415C= (p.Ser472=)
n.2423+2679G=
n.1774C=
10g.18539390C>GCA376071618CACNB2,NSUN6c.1505C>G (p.Ser502Cys)
c.1370C>G (p.Ser457Cys)
c.1493C>G (p.Ser498Cys)
c.1565C>G (p.Ser522Cys)
c.1649C>G (p.Ser550Cys)
c.1487C>G (p.Ser496Cys)
c.1274C>G (p.Ser425Cys)
c.1451C>G (p.Ser484Cys)
c.*790C>G (n.*790C>G)
c.1391C>G (p.Ser464Cys)
c.*923C>G (n.*923C>G)
c.1206C>G (n.1206C>G)
c.*888C>G (n.*888C>G)
c.1469C>G (p.Ser490Cys)
c.*749C>G (n.*749C>G)
c.1577C>G (p.Ser526Cys)
c.899C>G (p.Ser300Cys)
c.1484C>G (p.Ser495Cys)
c.1353C>G (n.1353C>G)
c.161C>G (p.Ser54Cys)
c.734C>G (p.Ser245Cys)
c.1412C>G (p.Ser471Cys)
c.1535C>G (p.Ser512Cys)
c.809C>G (p.Ser270Cys)
c.1415C>G (p.Ser472Cys)
n.2423+2679G>C
n.1774C>G
 gnomAD v4
10g.18539390C>TCA376071617CACNB2,NSUN6c.1505C>T (p.Ser502Phe)
c.1370C>T (p.Ser457Phe)
c.1493C>T (p.Ser498Phe)
c.1565C>T (p.Ser522Phe)
c.1649C>T (p.Ser550Phe)
c.1487C>T (p.Ser496Phe)
c.1274C>T (p.Ser425Phe)
c.1451C>T (p.Ser484Phe)
c.*790C>T (n.*790C>T)
c.1391C>T (p.Ser464Phe)
c.*923C>T (n.*923C>T)
c.1206C>T (n.1206C>T)
c.*888C>T (n.*888C>T)
c.1469C>T (p.Ser490Phe)
c.*749C>T (n.*749C>T)
c.1577C>T (p.Ser526Phe)
c.899C>T (p.Ser300Phe)
c.1484C>T (p.Ser495Phe)
c.1353C>T (n.1353C>T)
c.161C>T (p.Ser54Phe)
c.734C>T (p.Ser245Phe)
c.1412C>T (p.Ser471Phe)
c.1535C>T (p.Ser512Phe)
c.809C>T (p.Ser270Phe)
c.1415C>T (p.Ser472Phe)
n.2423+2679G>A
n.1774C>T
 dbSNP gnomAD v2 gnomAD v4
10g.18539391delCA2557146910CACNB2,NSUN6c.1506del (p.Arg503GlyfsTer18)
c.1371del (p.Arg458GlyfsTer18)
c.1494del (p.Arg499GlyfsTer18)
c.1566del (p.Arg523GlyfsTer18)
c.1650del (p.Arg551GlyfsTer18)
c.1488del (p.Arg497GlyfsTer18)
c.1275del (p.Arg426GlyfsTer18)
c.1452del (p.Arg485GlyfsTer18)
c.*791del (n.*791del)
c.1392del (p.Arg465GlyfsTer18)
c.*924del (n.*924del)
c.1207del (n.1207del)
c.*889del (n.*889del)
c.1470del (p.Arg491GlyfsTer18)
c.*750del (n.*750del)
c.1578del (p.Arg527GlyfsTer18)
c.900del (p.Arg301GlyfsTer18)
c.1485del (p.Arg496GlyfsTer18)
c.1354del (n.1354del)
c.162del (p.Arg55GlyfsTer18)
c.735del (p.Arg246GlyfsTer18)
c.1413del (p.Arg472GlyfsTer18)
c.1536del (p.Arg513GlyfsTer18)
c.810del (p.Arg271GlyfsTer18)
c.1416del (p.Arg473GlyfsTer18)
n.2423+2679del
n.1775del
10g.18539391C>ACA468628075CACNB2,NSUN6c.1506C>A (p.Ser502=)
c.1371C>A (p.Ser457=)
c.1494C>A (p.Ser498=)
c.1566C>A (p.Ser522=)
c.1650C>A (p.Ser550=)
c.1488C>A (p.Ser496=)
c.1275C>A (p.Ser425=)
c.1452C>A (p.Ser484=)
c.*791C>A (n.*791C>A)
c.1392C>A (p.Ser464=)
c.*924C>A (n.*924C>A)
c.1207C>A (n.1207C>A)
c.*889C>A (n.*889C>A)
c.1470C>A (p.Ser490=)
c.*750C>A (n.*750C>A)
c.1578C>A (p.Ser526=)
c.900C>A (p.Ser300=)
c.1485C>A (p.Ser495=)
c.1354C>A (n.1354C>A)
c.162C>A (p.Ser54=)
c.735C>A (p.Ser245=)
c.1413C>A (p.Ser471=)
c.1536C>A (p.Ser512=)
c.810C>A (p.Ser270=)
c.1416C>A (p.Ser472=)
n.2423+2678G>T
n.1775C>A
10g.18539391C=CA1894173273CACNB2,NSUN6c.1506C= (p.Ser502=)
c.1371C= (p.Ser457=)
c.1494C= (p.Ser498=)
c.1566C= (p.Ser522=)
c.1650C= (p.Ser550=)
c.1488C= (p.Ser496=)
c.1275C= (p.Ser425=)
c.1452C= (p.Ser484=)
c.*791C= (n.*791C=)
c.1392C= (p.Ser464=)
c.*924C= (n.*924C=)
c.1207C= (n.1207C=)
c.*889C= (n.*889C=)
c.1470C= (p.Ser490=)
c.*750C= (n.*750C=)
c.1578C= (p.Ser526=)
c.900C= (p.Ser300=)
c.1485C= (p.Ser495=)
c.1354C= (n.1354C=)
c.162C= (p.Ser54=)
c.735C= (p.Ser245=)
c.1413C= (p.Ser471=)
c.1536C= (p.Ser512=)
c.810C= (p.Ser270=)
c.1416C= (p.Ser472=)
n.2423+2678G=
n.1775C=
10g.18539391C>GCA468628073CACNB2,NSUN6c.1506C>G (p.Ser502=)
c.1371C>G (p.Ser457=)
c.1494C>G (p.Ser498=)
c.1566C>G (p.Ser522=)
c.1650C>G (p.Ser550=)
c.1488C>G (p.Ser496=)
c.1275C>G (p.Ser425=)
c.1452C>G (p.Ser484=)
c.*791C>G (n.*791C>G)
c.1392C>G (p.Ser464=)
c.*924C>G (n.*924C>G)
c.1207C>G (n.1207C>G)
c.*889C>G (n.*889C>G)
c.1470C>G (p.Ser490=)
c.*750C>G (n.*750C>G)
c.1578C>G (p.Ser526=)
c.900C>G (p.Ser300=)
c.1485C>G (p.Ser495=)
c.1354C>G (n.1354C>G)
c.162C>G (p.Ser54=)
c.735C>G (p.Ser245=)
c.1413C>G (p.Ser471=)
c.1536C>G (p.Ser512=)
c.810C>G (p.Ser270=)
c.1416C>G (p.Ser472=)
n.2423+2678G>C
n.1775C>G
10g.18539391C>TCA5430119CACNB2,NSUN6c.1506C>T (p.Ser502=)
c.1371C>T (p.Ser457=)
c.1494C>T (p.Ser498=)
c.1566C>T (p.Ser522=)
c.1650C>T (p.Ser550=)
c.1488C>T (p.Ser496=)
c.1275C>T (p.Ser425=)
c.1452C>T (p.Ser484=)
c.*791C>T (n.*791C>T)
c.1392C>T (p.Ser464=)
c.*924C>T (n.*924C>T)
c.1207C>T (n.1207C>T)
c.*889C>T (n.*889C>T)
c.1470C>T (p.Ser490=)
c.*750C>T (n.*750C>T)
c.1578C>T (p.Ser526=)
c.900C>T (p.Ser300=)
c.1485C>T (p.Ser495=)
c.1354C>T (n.1354C>T)
c.162C>T (p.Ser54=)
c.735C>T (p.Ser245=)
c.1413C>T (p.Ser471=)
c.1536C>T (p.Ser512=)
c.810C>T (p.Ser270=)
c.1416C>T (p.Ser472=)
n.2423+2678G>A
n.1775C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539392A>CCA468628080CACNB2,NSUN6c.1507A>C (p.Arg503=)
c.1372A>C (p.Arg458=)
c.1495A>C (p.Arg499=)
c.1567A>C (p.Arg523=)
c.1651A>C (p.Arg551=)
c.1489A>C (p.Arg497=)
c.1276A>C (p.Arg426=)
c.1453A>C (p.Arg485=)
c.*792A>C (n.*792A>C)
c.1393A>C (p.Arg465=)
c.*925A>C (n.*925A>C)
c.1208A>C (n.1208A>C)
c.*890A>C (n.*890A>C)
c.1471A>C (p.Arg491=)
c.*751A>C (n.*751A>C)
c.1579A>C (p.Arg527=)
c.901A>C (p.Arg301=)
c.1486A>C (p.Arg496=)
c.1355A>C (n.1355A>C)
c.163A>C (p.Arg55=)
c.736A>C (p.Arg246=)
c.1414A>C (p.Arg472=)
c.1537A>C (p.Arg513=)
c.811A>C (p.Arg271=)
c.1417A>C (p.Arg473=)
n.2423+2677T>G
n.1776A>C
10g.18539392A>GCA376071620CACNB2,NSUN6c.1507A>G (p.Arg503Gly)
c.1372A>G (p.Arg458Gly)
c.1495A>G (p.Arg499Gly)
c.1567A>G (p.Arg523Gly)
c.1651A>G (p.Arg551Gly)
c.1489A>G (p.Arg497Gly)
c.1276A>G (p.Arg426Gly)
c.1453A>G (p.Arg485Gly)
c.*792A>G (n.*792A>G)
c.1393A>G (p.Arg465Gly)
c.*925A>G (n.*925A>G)
c.1208A>G (n.1208A>G)
c.*890A>G (n.*890A>G)
c.1471A>G (p.Arg491Gly)
c.*751A>G (n.*751A>G)
c.1579A>G (p.Arg527Gly)
c.901A>G (p.Arg301Gly)
c.1486A>G (p.Arg496Gly)
c.1355A>G (n.1355A>G)
c.163A>G (p.Arg55Gly)
c.736A>G (p.Arg246Gly)
c.1414A>G (p.Arg472Gly)
c.1537A>G (p.Arg513Gly)
c.811A>G (p.Arg271Gly)
c.1417A>G (p.Arg473Gly)
n.2423+2677T>C
n.1776A>G
 gnomAD v4
10g.18539392A>TCA376071622CACNB2,NSUN6c.1507A>T (p.Arg503Trp)
c.1372A>T (p.Arg458Trp)
c.1495A>T (p.Arg499Trp)
c.1567A>T (p.Arg523Trp)
c.1651A>T (p.Arg551Trp)
c.1489A>T (p.Arg497Trp)
c.1276A>T (p.Arg426Trp)
c.1453A>T (p.Arg485Trp)
c.*792A>T (n.*792A>T)
c.1393A>T (p.Arg465Trp)
c.*925A>T (n.*925A>T)
c.1208A>T (n.1208A>T)
c.*890A>T (n.*890A>T)
c.1471A>T (p.Arg491Trp)
c.*751A>T (n.*751A>T)
c.1579A>T (p.Arg527Trp)
c.901A>T (p.Arg301Trp)
c.1486A>T (p.Arg496Trp)
c.1355A>T (n.1355A>T)
c.163A>T (p.Arg55Trp)
c.736A>T (p.Arg246Trp)
c.1414A>T (p.Arg472Trp)
c.1537A>T (p.Arg513Trp)
c.811A>T (p.Arg271Trp)
c.1417A>T (p.Arg473Trp)
n.2423+2677T>A
n.1776A>T
10g.18539393G>ACA376071625CACNB2,NSUN6c.1508G>A (p.Arg503Lys)
c.1373G>A (p.Arg458Lys)
c.1496G>A (p.Arg499Lys)
c.1568G>A (p.Arg523Lys)
c.1652G>A (p.Arg551Lys)
c.1490G>A (p.Arg497Lys)
c.1277G>A (p.Arg426Lys)
c.1454G>A (p.Arg485Lys)
c.*793G>A (n.*793G>A)
c.1394G>A (p.Arg465Lys)
c.*926G>A (n.*926G>A)
c.1209G>A (n.1209G>A)
c.*891G>A (n.*891G>A)
c.1472G>A (p.Arg491Lys)
c.*752G>A (n.*752G>A)
c.1580G>A (p.Arg527Lys)
c.902G>A (p.Arg301Lys)
c.1487G>A (p.Arg496Lys)
c.1356G>A (n.1356G>A)
c.164G>A (p.Arg55Lys)
c.737G>A (p.Arg246Lys)
c.1415G>A (p.Arg472Lys)
c.1538G>A (p.Arg513Lys)
c.812G>A (p.Arg271Lys)
c.1418G>A (p.Arg473Lys)
n.2423+2676C>T
n.1777G>A
 gnomAD v4
10g.18539393G>CCA376071626CACNB2,NSUN6c.1508G>C (p.Arg503Thr)
c.1373G>C (p.Arg458Thr)
c.1496G>C (p.Arg499Thr)
c.1568G>C (p.Arg523Thr)
c.1652G>C (p.Arg551Thr)
c.1490G>C (p.Arg497Thr)
c.1277G>C (p.Arg426Thr)
c.1454G>C (p.Arg485Thr)
c.*793G>C (n.*793G>C)
c.1394G>C (p.Arg465Thr)
c.*926G>C (n.*926G>C)
c.1209G>C (n.1209G>C)
c.*891G>C (n.*891G>C)
c.1472G>C (p.Arg491Thr)
c.*752G>C (n.*752G>C)
c.1580G>C (p.Arg527Thr)
c.902G>C (p.Arg301Thr)
c.1487G>C (p.Arg496Thr)
c.1356G>C (n.1356G>C)
c.164G>C (p.Arg55Thr)
c.737G>C (p.Arg246Thr)
c.1415G>C (p.Arg472Thr)
c.1538G>C (p.Arg513Thr)
c.812G>C (p.Arg271Thr)
c.1418G>C (p.Arg473Thr)
n.2423+2676C>G
n.1777G>C
10g.18539393G>TCA376071627CACNB2,NSUN6c.1508G>T (p.Arg503Met)
c.1373G>T (p.Arg458Met)
c.1496G>T (p.Arg499Met)
c.1568G>T (p.Arg523Met)
c.1652G>T (p.Arg551Met)
c.1490G>T (p.Arg497Met)
c.1277G>T (p.Arg426Met)
c.1454G>T (p.Arg485Met)
c.*793G>T (n.*793G>T)
c.1394G>T (p.Arg465Met)
c.*926G>T (n.*926G>T)
c.1209G>T (n.1209G>T)
c.*891G>T (n.*891G>T)
c.1472G>T (p.Arg491Met)
c.*752G>T (n.*752G>T)
c.1580G>T (p.Arg527Met)
c.902G>T (p.Arg301Met)
c.1487G>T (p.Arg496Met)
c.1356G>T (n.1356G>T)
c.164G>T (p.Arg55Met)
c.737G>T (p.Arg246Met)
c.1415G>T (p.Arg472Met)
c.1538G>T (p.Arg513Met)
c.812G>T (p.Arg271Met)
c.1418G>T (p.Arg473Met)
n.2423+2676C>A
n.1777G>T
 gnomAD v4
10g.18539394G>ACA468628110CACNB2,NSUN6c.1509G>A (p.Arg503=)
c.1374G>A (p.Arg458=)
c.1497G>A (p.Arg499=)
c.1569G>A (p.Arg523=)
c.1653G>A (p.Arg551=)
c.1491G>A (p.Arg497=)
c.1278G>A (p.Arg426=)
c.1455G>A (p.Arg485=)
c.*794G>A (n.*794G>A)
c.1395G>A (p.Arg465=)
c.*927G>A (n.*927G>A)
c.1210G>A (n.1210G>A)
c.*892G>A (n.*892G>A)
c.1473G>A (p.Arg491=)
c.*753G>A (n.*753G>A)
c.1581G>A (p.Arg527=)
c.903G>A (p.Arg301=)
c.1488G>A (p.Arg496=)
c.1357G>A (n.1357G>A)
c.165G>A (p.Arg55=)
c.738G>A (p.Arg246=)
c.1416G>A (p.Arg472=)
c.1539G>A (p.Arg513=)
c.813G>A (p.Arg271=)
c.1419G>A (p.Arg473=)
n.2423+2675C>T
n.1778G>A
 dbSNP
10g.18539394G>CCA203167201CACNB2,NSUN6c.1509G>C (p.Arg503Ser)
c.1374G>C (p.Arg458Ser)
c.1497G>C (p.Arg499Ser)
c.1569G>C (p.Arg523Ser)
c.1653G>C (p.Arg551Ser)
c.1491G>C (p.Arg497Ser)
c.1278G>C (p.Arg426Ser)
c.1455G>C (p.Arg485Ser)
c.*794G>C (n.*794G>C)
c.1395G>C (p.Arg465Ser)
c.*927G>C (n.*927G>C)
c.1210G>C (n.1210G>C)
c.*892G>C (n.*892G>C)
c.1473G>C (p.Arg491Ser)
c.*753G>C (n.*753G>C)
c.1581G>C (p.Arg527Ser)
c.903G>C (p.Arg301Ser)
c.1488G>C (p.Arg496Ser)
c.1357G>C (n.1357G>C)
c.165G>C (p.Arg55Ser)
c.738G>C (p.Arg246Ser)
c.1416G>C (p.Arg472Ser)
c.1539G>C (p.Arg513Ser)
c.813G>C (p.Arg271Ser)
c.1419G>C (p.Arg473Ser)
n.2423+2675C>G
n.1778G>C
 dbSNP gnomAD v4
10g.18539394G=CA1894173278CACNB2,NSUN6c.1509G= (p.Arg503=)
c.1374G= (p.Arg458=)
c.1497G= (p.Arg499=)
c.1569G= (p.Arg523=)
c.1653G= (p.Arg551=)
c.1491G= (p.Arg497=)
c.1278G= (p.Arg426=)
c.1455G= (p.Arg485=)
c.*794G= (n.*794G=)
c.1395G= (p.Arg465=)
c.*927G= (n.*927G=)
c.1210G= (n.1210G=)
c.*892G= (n.*892G=)
c.1473G= (p.Arg491=)
c.*753G= (n.*753G=)
c.1581G= (p.Arg527=)
c.903G= (p.Arg301=)
c.1488G= (p.Arg496=)
c.1357G= (n.1357G=)
c.165G= (p.Arg55=)
c.738G= (p.Arg246=)
c.1416G= (p.Arg472=)
c.1539G= (p.Arg513=)
c.813G= (p.Arg271=)
c.1419G= (p.Arg473=)
n.2423+2675C=
n.1778G=
10g.18539394G>TCA376071628CACNB2,NSUN6c.1509G>T (p.Arg503Ser)
c.1374G>T (p.Arg458Ser)
c.1497G>T (p.Arg499Ser)
c.1569G>T (p.Arg523Ser)
c.1653G>T (p.Arg551Ser)
c.1491G>T (p.Arg497Ser)
c.1278G>T (p.Arg426Ser)
c.1455G>T (p.Arg485Ser)
c.*794G>T (n.*794G>T)
c.1395G>T (p.Arg465Ser)
c.*927G>T (n.*927G>T)
c.1210G>T (n.1210G>T)
c.*892G>T (n.*892G>T)
c.1473G>T (p.Arg491Ser)
c.*753G>T (n.*753G>T)
c.1581G>T (p.Arg527Ser)
c.903G>T (p.Arg301Ser)
c.1488G>T (p.Arg496Ser)
c.1357G>T (n.1357G>T)
c.165G>T (p.Arg55Ser)
c.738G>T (p.Arg246Ser)
c.1416G>T (p.Arg472Ser)
c.1539G>T (p.Arg513Ser)
c.813G>T (p.Arg271Ser)
c.1419G>T (p.Arg473Ser)
n.2423+2675C>A
n.1778G>T
10g.18539395C>ACA376071630CACNB2,NSUN6c.1510C>A (p.Gln504Lys)
c.1375C>A (p.Gln459Lys)
c.1498C>A (p.Gln500Lys)
c.1570C>A (p.Gln524Lys)
c.1654C>A (p.Gln552Lys)
c.1492C>A (p.Gln498Lys)
c.1279C>A (p.Gln427Lys)
c.1456C>A (p.Gln486Lys)
c.*795C>A (n.*795C>A)
c.1396C>A (p.Gln466Lys)
c.*928C>A (n.*928C>A)
c.1211C>A (n.1211C>A)
c.*893C>A (n.*893C>A)
c.1474C>A (p.Gln492Lys)
c.*754C>A (n.*754C>A)
c.1582C>A (p.Gln528Lys)
c.904C>A (p.Gln302Lys)
c.1489C>A (p.Gln497Lys)
c.1358C>A (n.1358C>A)
c.166C>A (p.Gln56Lys)
c.739C>A (p.Gln247Lys)
c.1417C>A (p.Gln473Lys)
c.1540C>A (p.Gln514Lys)
c.814C>A (p.Gln272Lys)
c.1420C>A (p.Gln474Lys)
n.2423+2674G>T
n.1779C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539395C=CA1894173282CACNB2,NSUN6c.1510C= (p.Gln504=)
c.1375C= (p.Gln459=)
c.1498C= (p.Gln500=)
c.1570C= (p.Gln524=)
c.1654C= (p.Gln552=)
c.1492C= (p.Gln498=)
c.1279C= (p.Gln427=)
c.1456C= (p.Gln486=)
c.*795C= (n.*795C=)
c.1396C= (p.Gln466=)
c.*928C= (n.*928C=)
c.1211C= (n.1211C=)
c.*893C= (n.*893C=)
c.1474C= (p.Gln492=)
c.*754C= (n.*754C=)
c.1582C= (p.Gln528=)
c.904C= (p.Gln302=)
c.1489C= (p.Gln497=)
c.1358C= (n.1358C=)
c.166C= (p.Gln56=)
c.739C= (p.Gln247=)
c.1417C= (p.Gln473=)
c.1540C= (p.Gln514=)
c.814C= (p.Gln272=)
c.1420C= (p.Gln474=)
n.2423+2674G=
n.1779C=
10g.18539395C>GCA376071631CACNB2,NSUN6c.1510C>G (p.Gln504Glu)
c.1375C>G (p.Gln459Glu)
c.1498C>G (p.Gln500Glu)
c.1570C>G (p.Gln524Glu)
c.1654C>G (p.Gln552Glu)
c.1492C>G (p.Gln498Glu)
c.1279C>G (p.Gln427Glu)
c.1456C>G (p.Gln486Glu)
c.*795C>G (n.*795C>G)
c.1396C>G (p.Gln466Glu)
c.*928C>G (n.*928C>G)
c.1211C>G (n.1211C>G)
c.*893C>G (n.*893C>G)
c.1474C>G (p.Gln492Glu)
c.*754C>G (n.*754C>G)
c.1582C>G (p.Gln528Glu)
c.904C>G (p.Gln302Glu)
c.1489C>G (p.Gln497Glu)
c.1358C>G (n.1358C>G)
c.166C>G (p.Gln56Glu)
c.739C>G (p.Gln247Glu)
c.1417C>G (p.Gln473Glu)
c.1540C>G (p.Gln514Glu)
c.814C>G (p.Gln272Glu)
c.1420C>G (p.Gln474Glu)
n.2423+2674G>C
n.1779C>G
10g.18539395C>TCA376071632CACNB2,NSUN6c.1510C>T (p.Gln504Ter)
c.1375C>T (p.Gln459Ter)
c.1498C>T (p.Gln500Ter)
c.1570C>T (p.Gln524Ter)
c.1654C>T (p.Gln552Ter)
c.1492C>T (p.Gln498Ter)
c.1279C>T (p.Gln427Ter)
c.1456C>T (p.Gln486Ter)
c.*795C>T (n.*795C>T)
c.1396C>T (p.Gln466Ter)
c.*928C>T (n.*928C>T)
c.1211C>T (n.1211C>T)
c.*893C>T (n.*893C>T)
c.1474C>T (p.Gln492Ter)
c.*754C>T (n.*754C>T)
c.1582C>T (p.Gln528Ter)
c.904C>T (p.Gln302Ter)
c.1489C>T (p.Gln497Ter)
c.1358C>T (n.1358C>T)
c.166C>T (p.Gln56Ter)
c.739C>T (p.Gln247Ter)
c.1417C>T (p.Gln473Ter)
c.1540C>T (p.Gln514Ter)
c.814C>T (p.Gln272Ter)
c.1420C>T (p.Gln474Ter)
n.2423+2674G>A
n.1779C>T
 dbSNP
10g.18539396A=CA1894173287CACNB2,NSUN6c.1511A= (p.Gln504=)
c.1376A= (p.Gln459=)
c.1499A= (p.Gln500=)
c.1571A= (p.Gln524=)
c.1655A= (p.Gln552=)
c.1493A= (p.Gln498=)
c.1280A= (p.Gln427=)
c.1457A= (p.Gln486=)
c.*796A= (n.*796A=)
c.1397A= (p.Gln466=)
c.*929A= (n.*929A=)
c.1212A= (n.1212A=)
c.*894A= (n.*894A=)
c.1475A= (p.Gln492=)
c.*755A= (n.*755A=)
c.1583A= (p.Gln528=)
c.905A= (p.Gln302=)
c.1490A= (p.Gln497=)
c.1359A= (n.1359A=)
c.167A= (p.Gln56=)
c.740A= (p.Gln247=)
c.1418A= (p.Gln473=)
c.1541A= (p.Gln514=)
c.815A= (p.Gln272=)
c.1421A= (p.Gln474=)
n.2423+2673T=
n.1780A=
10g.18539396A>CCA376071634CACNB2,NSUN6c.1511A>C (p.Gln504Pro)
c.1376A>C (p.Gln459Pro)
c.1499A>C (p.Gln500Pro)
c.1571A>C (p.Gln524Pro)
c.1655A>C (p.Gln552Pro)
c.1493A>C (p.Gln498Pro)
c.1280A>C (p.Gln427Pro)
c.1457A>C (p.Gln486Pro)
c.*796A>C (n.*796A>C)
c.1397A>C (p.Gln466Pro)
c.*929A>C (n.*929A>C)
c.1212A>C (n.1212A>C)
c.*894A>C (n.*894A>C)
c.1475A>C (p.Gln492Pro)
c.*755A>C (n.*755A>C)
c.1583A>C (p.Gln528Pro)
c.905A>C (p.Gln302Pro)
c.1490A>C (p.Gln497Pro)
c.1359A>C (n.1359A>C)
c.167A>C (p.Gln56Pro)
c.740A>C (p.Gln247Pro)
c.1418A>C (p.Gln473Pro)
c.1541A>C (p.Gln514Pro)
c.815A>C (p.Gln272Pro)
c.1421A>C (p.Gln474Pro)
n.2423+2673T>G
n.1780A>C
 dbSNP gnomAD v3 gnomAD v4
10g.18539396A>GCA376071637CACNB2,NSUN6c.1511A>G (p.Gln504Arg)
c.1376A>G (p.Gln459Arg)
c.1499A>G (p.Gln500Arg)
c.1571A>G (p.Gln524Arg)
c.1655A>G (p.Gln552Arg)
c.1493A>G (p.Gln498Arg)
c.1280A>G (p.Gln427Arg)
c.1457A>G (p.Gln486Arg)
c.*796A>G (n.*796A>G)
c.1397A>G (p.Gln466Arg)
c.*929A>G (n.*929A>G)
c.1212A>G (n.1212A>G)
c.*894A>G (n.*894A>G)
c.1475A>G (p.Gln492Arg)
c.*755A>G (n.*755A>G)
c.1583A>G (p.Gln528Arg)
c.905A>G (p.Gln302Arg)
c.1490A>G (p.Gln497Arg)
c.1359A>G (n.1359A>G)
c.167A>G (p.Gln56Arg)
c.740A>G (p.Gln247Arg)
c.1418A>G (p.Gln473Arg)
c.1541A>G (p.Gln514Arg)
c.815A>G (p.Gln272Arg)
c.1421A>G (p.Gln474Arg)
n.2423+2673T>C
n.1780A>G
10g.18539396A>TCA376071635CACNB2,NSUN6c.1511A>T (p.Gln504Leu)
c.1376A>T (p.Gln459Leu)
c.1499A>T (p.Gln500Leu)
c.1571A>T (p.Gln524Leu)
c.1655A>T (p.Gln552Leu)
c.1493A>T (p.Gln498Leu)
c.1280A>T (p.Gln427Leu)
c.1457A>T (p.Gln486Leu)
c.*796A>T (n.*796A>T)
c.1397A>T (p.Gln466Leu)
c.*929A>T (n.*929A>T)
c.1212A>T (n.1212A>T)
c.*894A>T (n.*894A>T)
c.1475A>T (p.Gln492Leu)
c.*755A>T (n.*755A>T)
c.1583A>T (p.Gln528Leu)
c.905A>T (p.Gln302Leu)
c.1490A>T (p.Gln497Leu)
c.1359A>T (n.1359A>T)
c.167A>T (p.Gln56Leu)
c.740A>T (p.Gln247Leu)
c.1418A>T (p.Gln473Leu)
c.1541A>T (p.Gln514Leu)
c.815A>T (p.Gln272Leu)
c.1421A>T (p.Gln474Leu)
n.2423+2673T>A
n.1780A>T
10g.18539397A>CCA376071638CACNB2,NSUN6c.1512A>C (p.Gln504His)
c.1377A>C (p.Gln459His)
c.1500A>C (p.Gln500His)
c.1572A>C (p.Gln524His)
c.1656A>C (p.Gln552His)
c.1494A>C (p.Gln498His)
c.1281A>C (p.Gln427His)
c.1458A>C (p.Gln486His)
c.*797A>C (n.*797A>C)
c.1398A>C (p.Gln466His)
c.*930A>C (n.*930A>C)
c.1213A>C (n.1213A>C)
c.*895A>C (n.*895A>C)
c.1476A>C (p.Gln492His)
c.*756A>C (n.*756A>C)
c.1584A>C (p.Gln528His)
c.906A>C (p.Gln302His)
c.1491A>C (p.Gln497His)
c.1360A>C (n.1360A>C)
c.168A>C (p.Gln56His)
c.741A>C (p.Gln247His)
c.1419A>C (p.Gln473His)
c.1542A>C (p.Gln514His)
c.816A>C (p.Gln272His)
c.1422A>C (p.Gln474His)
n.2423+2672T>G
n.1781A>C
10g.18539397A>GCA468628134CACNB2,NSUN6c.1512A>G (p.Gln504=)
c.1377A>G (p.Gln459=)
c.1500A>G (p.Gln500=)
c.1572A>G (p.Gln524=)
c.1656A>G (p.Gln552=)
c.1494A>G (p.Gln498=)
c.1281A>G (p.Gln427=)
c.1458A>G (p.Gln486=)
c.*797A>G (n.*797A>G)
c.1398A>G (p.Gln466=)
c.*930A>G (n.*930A>G)
c.1213A>G (n.1213A>G)
c.*895A>G (n.*895A>G)
c.1476A>G (p.Gln492=)
c.*756A>G (n.*756A>G)
c.1584A>G (p.Gln528=)
c.906A>G (p.Gln302=)
c.1491A>G (p.Gln497=)
c.1360A>G (n.1360A>G)
c.168A>G (p.Gln56=)
c.741A>G (p.Gln247=)
c.1419A>G (p.Gln473=)
c.1542A>G (p.Gln514=)
c.816A>G (p.Gln272=)
c.1422A>G (p.Gln474=)
n.2423+2672T>C
n.1781A>G
 gnomAD v4
10g.18539397A>TCA376071639CACNB2,NSUN6c.1512A>T (p.Gln504His)
c.1377A>T (p.Gln459His)
c.1500A>T (p.Gln500His)
c.1572A>T (p.Gln524His)
c.1656A>T (p.Gln552His)
c.1494A>T (p.Gln498His)
c.1281A>T (p.Gln427His)
c.1458A>T (p.Gln486His)
c.*797A>T (n.*797A>T)
c.1398A>T (p.Gln466His)
c.*930A>T (n.*930A>T)
c.1213A>T (n.1213A>T)
c.*895A>T (n.*895A>T)
c.1476A>T (p.Gln492His)
c.*756A>T (n.*756A>T)
c.1584A>T (p.Gln528His)
c.906A>T (p.Gln302His)
c.1491A>T (p.Gln497His)
c.1360A>T (n.1360A>T)
c.168A>T (p.Gln56His)
c.741A>T (p.Gln247His)
c.1419A>T (p.Gln473His)
c.1542A>T (p.Gln514His)
c.816A>T (p.Gln272His)
c.1422A>T (p.Gln474His)
n.2423+2672T>A
n.1781A>T
10g.18539398_18539401dupCA662520394CACNB2,NSUN6c.1513_1516dup (p.Thr506ArgfsTer4)
c.1378_1381dup (p.Thr461ArgfsTer4)
c.1501_1504dup (p.Thr502ArgfsTer4)
c.1573_1576dup (p.Thr526ArgfsTer4)
c.1657_1660dup (p.Thr554ArgfsTer4)
c.1495_1498dup (p.Thr500ArgfsTer4)
c.1282_1285dup (p.Thr429ArgfsTer4)
c.1459_1462dup (p.Thr488ArgfsTer4)
c.*798_*801dup (n.*798_*801dup)
c.1399_1402dup (p.Thr468ArgfsTer4)
c.*931_*934dup (n.*931_*934dup)
c.1214_1217dup (n.1214_1217dup)
c.*896_*899dup (n.*896_*899dup)
c.1477_1480dup (p.Thr494ArgfsTer4)
c.*757_*760dup (n.*757_*760dup)
c.1585_1588dup (p.Thr530ArgfsTer4)
c.907_910dup (p.Thr304ArgfsTer4)
c.1492_1495dup (p.Thr499ArgfsTer4)
c.1361_1364dup (n.1361_1364dup)
c.169_172dup (p.Thr58ArgfsTer4)
c.742_745dup (p.Thr249ArgfsTer4)
c.1420_1423dup (p.Thr475ArgfsTer4)
c.1543_1546dup (p.Thr516ArgfsTer4)
c.817_820dup (p.Thr274ArgfsTer4)
c.1423_1426dup (p.Thr476ArgfsTer4)
n.2423+2669_2423+2672dup
n.1782_1785dup
 dbSNP
10g.18539400_18539401delCA2608435601CACNB2,NSUN6c.1515_1516del (p.Glu505AspfsTer3)
c.1380_1381del (p.Glu460AspfsTer3)
c.1503_1504del (p.Glu501AspfsTer3)
c.1575_1576del (p.Glu525AspfsTer3)
c.1659_1660del (p.Glu553AspfsTer3)
c.1497_1498del (p.Glu499AspfsTer3)
c.1284_1285del (p.Glu428AspfsTer3)
c.1461_1462del (p.Glu487AspfsTer3)
c.*800_*801del (n.*800_*801del)
c.1401_1402del (p.Glu467AspfsTer3)
c.*933_*934del (n.*933_*934del)
c.1216_1217del (n.1216_1217del)
c.*898_*899del (n.*898_*899del)
c.1479_1480del (p.Glu493AspfsTer3)
c.*759_*760del (n.*759_*760del)
c.1587_1588del (p.Glu529AspfsTer3)
c.909_910del (p.Glu303AspfsTer3)
c.1494_1495del (p.Glu498AspfsTer3)
c.1363_1364del (n.1363_1364del)
c.171_172del (p.Glu57AspfsTer3)
c.744_745del (p.Glu248AspfsTer3)
c.1422_1423del (p.Glu474AspfsTer3)
c.1545_1546del (p.Glu515AspfsTer3)
c.819_820del (p.Glu273AspfsTer3)
c.1425_1426del (p.Glu475AspfsTer3)
n.2423+2671_2423+2672del
n.1784_1785del
 gnomAD v4
10g.18539398G>ACA376071641CACNB2,NSUN6c.1513G>A (p.Glu505Lys)
c.1378G>A (p.Glu460Lys)
c.1501G>A (p.Glu501Lys)
c.1573G>A (p.Glu525Lys)
c.1657G>A (p.Glu553Lys)
c.1495G>A (p.Glu499Lys)
c.1282G>A (p.Glu428Lys)
c.1459G>A (p.Glu487Lys)
c.*798G>A (n.*798G>A)
c.1399G>A (p.Glu467Lys)
c.*931G>A (n.*931G>A)
c.1214G>A (n.1214G>A)
c.*896G>A (n.*896G>A)
c.1477G>A (p.Glu493Lys)
c.*757G>A (n.*757G>A)
c.1585G>A (p.Glu529Lys)
c.907G>A (p.Glu303Lys)
c.1492G>A (p.Glu498Lys)
c.1361G>A (n.1361G>A)
c.169G>A (p.Glu57Lys)
c.742G>A (p.Glu248Lys)
c.1420G>A (p.Glu474Lys)
c.1543G>A (p.Glu515Lys)
c.817G>A (p.Glu273Lys)
c.1423G>A (p.Glu475Lys)
n.2423+2671C>T
n.1782G>A
 ClinVar COSMIC COSMIC COSMIC COSMIC COSMIC
10g.18539398G>CCA5430120CACNB2,NSUN6c.1513G>C (p.Glu505Gln)
c.1378G>C (p.Glu460Gln)
c.1501G>C (p.Glu501Gln)
c.1573G>C (p.Glu525Gln)
c.1657G>C (p.Glu553Gln)
c.1495G>C (p.Glu499Gln)
c.1282G>C (p.Glu428Gln)
c.1459G>C (p.Glu487Gln)
c.*798G>C (n.*798G>C)
c.1399G>C (p.Glu467Gln)
c.*931G>C (n.*931G>C)
c.1214G>C (n.1214G>C)
c.*896G>C (n.*896G>C)
c.1477G>C (p.Glu493Gln)
c.*757G>C (n.*757G>C)
c.1585G>C (p.Glu529Gln)
c.907G>C (p.Glu303Gln)
c.1492G>C (p.Glu498Gln)
c.1361G>C (n.1361G>C)
c.169G>C (p.Glu57Gln)
c.742G>C (p.Glu248Gln)
c.1420G>C (p.Glu474Gln)
c.1543G>C (p.Glu515Gln)
c.817G>C (p.Glu273Gln)
c.1423G>C (p.Glu475Gln)
n.2423+2671C>G
n.1782G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539398G=CA1894173292CACNB2,NSUN6c.1513G= (p.Glu505=)
c.1378G= (p.Glu460=)
c.1501G= (p.Glu501=)
c.1573G= (p.Glu525=)
c.1657G= (p.Glu553=)
c.1495G= (p.Glu499=)
c.1282G= (p.Glu428=)
c.1459G= (p.Glu487=)
c.*798G= (n.*798G=)
c.1399G= (p.Glu467=)
c.*931G= (n.*931G=)
c.1214G= (n.1214G=)
c.*896G= (n.*896G=)
c.1477G= (p.Glu493=)
c.*757G= (n.*757G=)
c.1585G= (p.Glu529=)
c.907G= (p.Glu303=)
c.1492G= (p.Glu498=)
c.1361G= (n.1361G=)
c.169G= (p.Glu57=)
c.742G= (p.Glu248=)
c.1420G= (p.Glu474=)
c.1543G= (p.Glu515=)
c.817G= (p.Glu273=)
c.1423G= (p.Glu475=)
n.2423+2671C=
n.1782G=
10g.18539398G>TCA376071643CACNB2,NSUN6c.1513G>T (p.Glu505Ter)
c.1378G>T (p.Glu460Ter)
c.1501G>T (p.Glu501Ter)
c.1573G>T (p.Glu525Ter)
c.1657G>T (p.Glu553Ter)
c.1495G>T (p.Glu499Ter)
c.1282G>T (p.Glu428Ter)
c.1459G>T (p.Glu487Ter)
c.*798G>T (n.*798G>T)
c.1399G>T (p.Glu467Ter)
c.*931G>T (n.*931G>T)
c.1214G>T (n.1214G>T)
c.*896G>T (n.*896G>T)
c.1477G>T (p.Glu493Ter)
c.*757G>T (n.*757G>T)
c.1585G>T (p.Glu529Ter)
c.907G>T (p.Glu303Ter)
c.1492G>T (p.Glu498Ter)
c.1361G>T (n.1361G>T)
c.169G>T (p.Glu57Ter)
c.742G>T (p.Glu248Ter)
c.1420G>T (p.Glu474Ter)
c.1543G>T (p.Glu515Ter)
c.817G>T (p.Glu273Ter)
c.1423G>T (p.Glu475Ter)
n.2423+2671C>A
n.1782G>T
 dbSNP
10g.18539399A>CCA376071645CACNB2,NSUN6c.1514A>C (p.Glu505Ala)
c.1379A>C (p.Glu460Ala)
c.1502A>C (p.Glu501Ala)
c.1574A>C (p.Glu525Ala)
c.1658A>C (p.Glu553Ala)
c.1496A>C (p.Glu499Ala)
c.1283A>C (p.Glu428Ala)
c.1460A>C (p.Glu487Ala)
c.*799A>C (n.*799A>C)
c.1400A>C (p.Glu467Ala)
c.*932A>C (n.*932A>C)
c.1215A>C (n.1215A>C)
c.*897A>C (n.*897A>C)
c.1478A>C (p.Glu493Ala)
c.*758A>C (n.*758A>C)
c.1586A>C (p.Glu529Ala)
c.908A>C (p.Glu303Ala)
c.1493A>C (p.Glu498Ala)
c.1362A>C (n.1362A>C)
c.170A>C (p.Glu57Ala)
c.743A>C (p.Glu248Ala)
c.1421A>C (p.Glu474Ala)
c.1544A>C (p.Glu515Ala)
c.818A>C (p.Glu273Ala)
c.1424A>C (p.Glu475Ala)
n.2423+2670T>G
n.1783A>C
10g.18539399A>GCA376071646CACNB2,NSUN6c.1514A>G (p.Glu505Gly)
c.1379A>G (p.Glu460Gly)
c.1502A>G (p.Glu501Gly)
c.1574A>G (p.Glu525Gly)
c.1658A>G (p.Glu553Gly)
c.1496A>G (p.Glu499Gly)
c.1283A>G (p.Glu428Gly)
c.1460A>G (p.Glu487Gly)
c.*799A>G (n.*799A>G)
c.1400A>G (p.Glu467Gly)
c.*932A>G (n.*932A>G)
c.1215A>G (n.1215A>G)
c.*897A>G (n.*897A>G)
c.1478A>G (p.Glu493Gly)
c.*758A>G (n.*758A>G)
c.1586A>G (p.Glu529Gly)
c.908A>G (p.Glu303Gly)
c.1493A>G (p.Glu498Gly)
c.1362A>G (n.1362A>G)
c.170A>G (p.Glu57Gly)
c.743A>G (p.Glu248Gly)
c.1421A>G (p.Glu474Gly)
c.1544A>G (p.Glu515Gly)
c.818A>G (p.Glu273Gly)
c.1424A>G (p.Glu475Gly)
n.2423+2670T>C
n.1783A>G
10g.18539399A>TCA376071648CACNB2,NSUN6c.1514A>T (p.Glu505Val)
c.1379A>T (p.Glu460Val)
c.1502A>T (p.Glu501Val)
c.1574A>T (p.Glu525Val)
c.1658A>T (p.Glu553Val)
c.1496A>T (p.Glu499Val)
c.1283A>T (p.Glu428Val)
c.1460A>T (p.Glu487Val)
c.*799A>T (n.*799A>T)
c.1400A>T (p.Glu467Val)
c.*932A>T (n.*932A>T)
c.1215A>T (n.1215A>T)
c.*897A>T (n.*897A>T)
c.1478A>T (p.Glu493Val)
c.*758A>T (n.*758A>T)
c.1586A>T (p.Glu529Val)
c.908A>T (p.Glu303Val)
c.1493A>T (p.Glu498Val)
c.1362A>T (n.1362A>T)
c.170A>T (p.Glu57Val)
c.743A>T (p.Glu248Val)
c.1421A>T (p.Glu474Val)
c.1544A>T (p.Glu515Val)
c.818A>T (p.Glu273Val)
c.1424A>T (p.Glu475Val)
n.2423+2670T>A
n.1783A>T
10g.18539400_18539403dupCA592060476CACNB2,NSUN6c.1515_1518dup (p.Phe507AspfsTer3)
c.1380_1383dup (p.Phe462AspfsTer3)
c.1503_1506dup (p.Phe503AspfsTer3)
c.1575_1578dup (p.Phe527AspfsTer3)
c.1659_1662dup (p.Phe555AspfsTer3)
c.1497_1500dup (p.Phe501AspfsTer3)
c.1284_1287dup (p.Phe430AspfsTer3)
c.1461_1464dup (p.Phe489AspfsTer3)
c.*800_*803dup (n.*800_*803dup)
c.1401_1404dup (p.Phe469AspfsTer3)
c.*933_*936dup (n.*933_*936dup)
c.1216_1219dup (n.1216_1219dup)
c.*898_*901dup (n.*898_*901dup)
c.1479_1482dup (p.Phe495AspfsTer3)
c.*759_*762dup (n.*759_*762dup)
c.1587_1590dup (p.Phe531AspfsTer3)
c.909_912dup (p.Phe305AspfsTer3)
c.1494_1497dup (p.Phe500AspfsTer3)
c.1363_1366dup (n.1363_1366dup)
c.171_174dup (p.Phe59AspfsTer3)
c.744_747dup (p.Phe250AspfsTer3)
c.1422_1425dup (p.Phe476AspfsTer3)
c.1545_1548dup (p.Phe517AspfsTer3)
c.819_822dup (p.Phe275AspfsTer3)
c.1425_1428dup (p.Phe477AspfsTer3)
n.2423+2667_2423+2670dup
n.1784_1787dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.18539400G>ACA468628153CACNB2,NSUN6c.1515G>A (p.Glu505=)
c.1380G>A (p.Glu460=)
c.1503G>A (p.Glu501=)
c.1575G>A (p.Glu525=)
c.1659G>A (p.Glu553=)
c.1497G>A (p.Glu499=)
c.1284G>A (p.Glu428=)
c.1461G>A (p.Glu487=)
c.*800G>A (n.*800G>A)
c.1401G>A (p.Glu467=)
c.*933G>A (n.*933G>A)
c.1216G>A (n.1216G>A)
c.*898G>A (n.*898G>A)
c.1479G>A (p.Glu493=)
c.*759G>A (n.*759G>A)
c.1587G>A (p.Glu529=)
c.909G>A (p.Glu303=)
c.1494G>A (p.Glu498=)
c.1363G>A (n.1363G>A)
c.171G>A (p.Glu57=)
c.744G>A (p.Glu248=)
c.1422G>A (p.Glu474=)
c.1545G>A (p.Glu515=)
c.819G>A (p.Glu273=)
c.1425G>A (p.Glu475=)
n.2423+2669C>T
n.1784G>A
10g.18539400G>CCA5430121CACNB2,NSUN6c.1515G>C (p.Glu505Asp)
c.1380G>C (p.Glu460Asp)
c.1503G>C (p.Glu501Asp)
c.1575G>C (p.Glu525Asp)
c.1659G>C (p.Glu553Asp)
c.1497G>C (p.Glu499Asp)
c.1284G>C (p.Glu428Asp)
c.1461G>C (p.Glu487Asp)
c.*800G>C (n.*800G>C)
c.1401G>C (p.Glu467Asp)
c.*933G>C (n.*933G>C)
c.1216G>C (n.1216G>C)
c.*898G>C (n.*898G>C)
c.1479G>C (p.Glu493Asp)
c.*759G>C (n.*759G>C)
c.1587G>C (p.Glu529Asp)
c.909G>C (p.Glu303Asp)
c.1494G>C (p.Glu498Asp)
c.1363G>C (n.1363G>C)
c.171G>C (p.Glu57Asp)
c.744G>C (p.Glu248Asp)
c.1422G>C (p.Glu474Asp)
c.1545G>C (p.Glu515Asp)
c.819G>C (p.Glu273Asp)
c.1425G>C (p.Glu475Asp)
n.2423+2669C>G
n.1784G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539400G=CA1894173295CACNB2,NSUN6c.1515G= (p.Glu505=)
c.1380G= (p.Glu460=)
c.1503G= (p.Glu501=)
c.1575G= (p.Glu525=)
c.1659G= (p.Glu553=)
c.1497G= (p.Glu499=)
c.1284G= (p.Glu428=)
c.1461G= (p.Glu487=)
c.*800G= (n.*800G=)
c.1401G= (p.Glu467=)
c.*933G= (n.*933G=)
c.1216G= (n.1216G=)
c.*898G= (n.*898G=)
c.1479G= (p.Glu493=)
c.*759G= (n.*759G=)
c.1587G= (p.Glu529=)
c.909G= (p.Glu303=)
c.1494G= (p.Glu498=)
c.1363G= (n.1363G=)
c.171G= (p.Glu57=)
c.744G= (p.Glu248=)
c.1422G= (p.Glu474=)
c.1545G= (p.Glu515=)
c.819G= (p.Glu273=)
c.1425G= (p.Glu475=)
n.2423+2669C=
n.1784G=
10g.18539400G>TCA376071650CACNB2,NSUN6c.1515G>T (p.Glu505Asp)
c.1380G>T (p.Glu460Asp)
c.1503G>T (p.Glu501Asp)
c.1575G>T (p.Glu525Asp)
c.1659G>T (p.Glu553Asp)
c.1497G>T (p.Glu499Asp)
c.1284G>T (p.Glu428Asp)
c.1461G>T (p.Glu487Asp)
c.*800G>T (n.*800G>T)
c.1401G>T (p.Glu467Asp)
c.*933G>T (n.*933G>T)
c.1216G>T (n.1216G>T)
c.*898G>T (n.*898G>T)
c.1479G>T (p.Glu493Asp)
c.*759G>T (n.*759G>T)
c.1587G>T (p.Glu529Asp)
c.909G>T (p.Glu303Asp)
c.1494G>T (p.Glu498Asp)
c.1363G>T (n.1363G>T)
c.171G>T (p.Glu57Asp)
c.744G>T (p.Glu248Asp)
c.1422G>T (p.Glu474Asp)
c.1545G>T (p.Glu515Asp)
c.819G>T (p.Glu273Asp)
c.1425G>T (p.Glu475Asp)
n.2423+2669C>A
n.1784G>T
10g.18539401A>CCA376071652CACNB2,NSUN6c.1516A>C (p.Thr506Pro)
c.1381A>C (p.Thr461Pro)
c.1504A>C (p.Thr502Pro)
c.1576A>C (p.Thr526Pro)
c.1660A>C (p.Thr554Pro)
c.1498A>C (p.Thr500Pro)
c.1285A>C (p.Thr429Pro)
c.1462A>C (p.Thr488Pro)
c.*801A>C (n.*801A>C)
c.1402A>C (p.Thr468Pro)
c.*934A>C (n.*934A>C)
c.1217A>C (n.1217A>C)
c.*899A>C (n.*899A>C)
c.1480A>C (p.Thr494Pro)
c.*760A>C (n.*760A>C)
c.1588A>C (p.Thr530Pro)
c.910A>C (p.Thr304Pro)
c.1495A>C (p.Thr499Pro)
c.1364A>C (n.1364A>C)
c.172A>C (p.Thr58Pro)
c.745A>C (p.Thr249Pro)
c.1423A>C (p.Thr475Pro)
c.1546A>C (p.Thr516Pro)
c.820A>C (p.Thr274Pro)
c.1426A>C (p.Thr476Pro)
n.2423+2668T>G
n.1785A>C
10g.18539401A>GCA376071654CACNB2,NSUN6c.1516A>G (p.Thr506Ala)
c.1381A>G (p.Thr461Ala)
c.1504A>G (p.Thr502Ala)
c.1576A>G (p.Thr526Ala)
c.1660A>G (p.Thr554Ala)
c.1498A>G (p.Thr500Ala)
c.1285A>G (p.Thr429Ala)
c.1462A>G (p.Thr488Ala)
c.*801A>G (n.*801A>G)
c.1402A>G (p.Thr468Ala)
c.*934A>G (n.*934A>G)
c.1217A>G (n.1217A>G)
c.*899A>G (n.*899A>G)
c.1480A>G (p.Thr494Ala)
c.*760A>G (n.*760A>G)
c.1588A>G (p.Thr530Ala)
c.910A>G (p.Thr304Ala)
c.1495A>G (p.Thr499Ala)
c.1364A>G (n.1364A>G)
c.172A>G (p.Thr58Ala)
c.745A>G (p.Thr249Ala)
c.1423A>G (p.Thr475Ala)
c.1546A>G (p.Thr516Ala)
c.820A>G (p.Thr274Ala)
c.1426A>G (p.Thr476Ala)
n.2423+2668T>C
n.1785A>G
 gnomAD v4
10g.18539401A>TCA376071655CACNB2,NSUN6c.1516A>T (p.Thr506Ser)
c.1381A>T (p.Thr461Ser)
c.1504A>T (p.Thr502Ser)
c.1576A>T (p.Thr526Ser)
c.1660A>T (p.Thr554Ser)
c.1498A>T (p.Thr500Ser)
c.1285A>T (p.Thr429Ser)
c.1462A>T (p.Thr488Ser)
c.*801A>T (n.*801A>T)
c.1402A>T (p.Thr468Ser)
c.*934A>T (n.*934A>T)
c.1217A>T (n.1217A>T)
c.*899A>T (n.*899A>T)
c.1480A>T (p.Thr494Ser)
c.*760A>T (n.*760A>T)
c.1588A>T (p.Thr530Ser)
c.910A>T (p.Thr304Ser)
c.1495A>T (p.Thr499Ser)
c.1364A>T (n.1364A>T)
c.172A>T (p.Thr58Ser)
c.745A>T (p.Thr249Ser)
c.1423A>T (p.Thr475Ser)
c.1546A>T (p.Thr516Ser)
c.820A>T (p.Thr274Ser)
c.1426A>T (p.Thr476Ser)
n.2423+2668T>A
n.1785A>T
10g.18539402C>ACA376071657CACNB2,NSUN6c.1517C>A (p.Thr506Lys)
c.1382C>A (p.Thr461Lys)
c.1505C>A (p.Thr502Lys)
c.1577C>A (p.Thr526Lys)
c.1661C>A (p.Thr554Lys)
c.1499C>A (p.Thr500Lys)
c.1286C>A (p.Thr429Lys)
c.1463C>A (p.Thr488Lys)
c.*802C>A (n.*802C>A)
c.1403C>A (p.Thr468Lys)
c.*935C>A (n.*935C>A)
c.1218C>A (n.1218C>A)
c.*900C>A (n.*900C>A)
c.1481C>A (p.Thr494Lys)
c.*761C>A (n.*761C>A)
c.1589C>A (p.Thr530Lys)
c.911C>A (p.Thr304Lys)
c.1496C>A (p.Thr499Lys)
c.1365C>A (n.1365C>A)
c.173C>A (p.Thr58Lys)
c.746C>A (p.Thr249Lys)
c.1424C>A (p.Thr475Lys)
c.1547C>A (p.Thr516Lys)
c.821C>A (p.Thr274Lys)
c.1427C>A (p.Thr476Lys)
n.2423+2667G>T
n.1786C>A
10g.18539402C=CA1894173297CACNB2,NSUN6c.1517C= (p.Thr506=)
c.1382C= (p.Thr461=)
c.1505C= (p.Thr502=)
c.1577C= (p.Thr526=)
c.1661C= (p.Thr554=)
c.1499C= (p.Thr500=)
c.1286C= (p.Thr429=)
c.1463C= (p.Thr488=)
c.*802C= (n.*802C=)
c.1403C= (p.Thr468=)
c.*935C= (n.*935C=)
c.1218C= (n.1218C=)
c.*900C= (n.*900C=)
c.1481C= (p.Thr494=)
c.*761C= (n.*761C=)
c.1589C= (p.Thr530=)
c.911C= (p.Thr304=)
c.1496C= (p.Thr499=)
c.1365C= (n.1365C=)
c.173C= (p.Thr58=)
c.746C= (p.Thr249=)
c.1424C= (p.Thr475=)
c.1547C= (p.Thr516=)
c.821C= (p.Thr274=)
c.1427C= (p.Thr476=)
n.2423+2667G=
n.1786C=
10g.18539402C>GCA376071660CACNB2,NSUN6c.1517C>G (p.Thr506Arg)
c.1382C>G (p.Thr461Arg)
c.1505C>G (p.Thr502Arg)
c.1577C>G (p.Thr526Arg)
c.1661C>G (p.Thr554Arg)
c.1499C>G (p.Thr500Arg)
c.1286C>G (p.Thr429Arg)
c.1463C>G (p.Thr488Arg)
c.*802C>G (n.*802C>G)
c.1403C>G (p.Thr468Arg)
c.*935C>G (n.*935C>G)
c.1218C>G (n.1218C>G)
c.*900C>G (n.*900C>G)
c.1481C>G (p.Thr494Arg)
c.*761C>G (n.*761C>G)
c.1589C>G (p.Thr530Arg)
c.911C>G (p.Thr304Arg)
c.1496C>G (p.Thr499Arg)
c.1365C>G (n.1365C>G)
c.173C>G (p.Thr58Arg)
c.746C>G (p.Thr249Arg)
c.1424C>G (p.Thr475Arg)
c.1547C>G (p.Thr516Arg)
c.821C>G (p.Thr274Arg)
c.1427C>G (p.Thr476Arg)
n.2423+2667G>C
n.1786C>G
10g.18539402C>TCA5430122CACNB2,NSUN6c.1517C>T (p.Thr506Ile)
c.1382C>T (p.Thr461Ile)
c.1505C>T (p.Thr502Ile)
c.1577C>T (p.Thr526Ile)
c.1661C>T (p.Thr554Ile)
c.1499C>T (p.Thr500Ile)
c.1286C>T (p.Thr429Ile)
c.1463C>T (p.Thr488Ile)
c.*802C>T (n.*802C>T)
c.1403C>T (p.Thr468Ile)
c.*935C>T (n.*935C>T)
c.1218C>T (n.1218C>T)
c.*900C>T (n.*900C>T)
c.1481C>T (p.Thr494Ile)
c.*761C>T (n.*761C>T)
c.1589C>T (p.Thr530Ile)
c.911C>T (p.Thr304Ile)
c.1496C>T (p.Thr499Ile)
c.1365C>T (n.1365C>T)
c.173C>T (p.Thr58Ile)
c.746C>T (p.Thr249Ile)
c.1424C>T (p.Thr475Ile)
c.1547C>T (p.Thr516Ile)
c.821C>T (p.Thr274Ile)
c.1427C>T (p.Thr476Ile)
n.2423+2667G>A
n.1786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539403_18539411dupCA2574454565CACNB2,NSUN6c.1518_1526dup (p.Ser509_Glu510insPheAspSer)
c.1383_1391dup (p.Ser464_Glu465insPheAspSer)
c.1506_1514dup (p.Ser505_Glu506insPheAspSer)
c.1578_1586dup (p.Ser529_Glu530insPheAspSer)
c.1662_1670dup (p.Ser557_Glu558insPheAspSer)
c.1500_1508dup (p.Ser503_Glu504insPheAspSer)
c.1287_1295dup (p.Ser432_Glu433insPheAspSer)
c.1464_1472dup (p.Ser491_Glu492insPheAspSer)
c.*803_*811dup (n.*803_*811dup)
c.1404_1412dup (p.Ser471_Glu472insPheAspSer)
c.*936_*944dup (n.*936_*944dup)
c.1219_1227dup (n.1219_1227dup)
c.*901_*909dup (n.*901_*909dup)
c.1482_1490dup (p.Ser497_Glu498insPheAspSer)
c.*762_*770dup (n.*762_*770dup)
c.1590_1598dup (p.Ser533_Glu534insPheAspSer)
c.912_920dup (p.Ser307_Glu308insPheAspSer)
c.1497_1505dup (p.Ser502_Glu503insPheAspSer)
c.1366_1374dup (n.1366_1374dup)
c.174_182dup (p.Ser61_Glu62insPheAspSer)
c.747_755dup (p.Ser252_Glu253insPheAspSer)
c.1425_1433dup (p.Ser478_Glu479insPheAspSer)
c.1548_1556dup (p.Ser519_Glu520insPheAspSer)
c.822_830dup (p.Ser277_Glu278insPheAspSer)
c.1428_1436dup (p.Ser479_Glu480insPheAspSer)
n.2423+2659_2423+2667dup
n.1787_1795dup
10g.18539403A=CA1894173301CACNB2,NSUN6c.1518A= (p.Thr506=)
c.1383A= (p.Thr461=)
c.1506A= (p.Thr502=)
c.1578A= (p.Thr526=)
c.1662A= (p.Thr554=)
c.1500A= (p.Thr500=)
c.1287A= (p.Thr429=)
c.1464A= (p.Thr488=)
c.*803A= (n.*803A=)
c.1404A= (p.Thr468=)
c.*936A= (n.*936A=)
c.1219A= (n.1219A=)
c.*901A= (n.*901A=)
c.1482A= (p.Thr494=)
c.*762A= (n.*762A=)
c.1590A= (p.Thr530=)
c.912A= (p.Thr304=)
c.1497A= (p.Thr499=)
c.1366A= (n.1366A=)
c.174A= (p.Thr58=)
c.747A= (p.Thr249=)
c.1425A= (p.Thr475=)
c.1548A= (p.Thr516=)
c.822A= (p.Thr274=)
c.1428A= (p.Thr476=)
n.2423+2666T=
n.1787A=
10g.18539403A>CCA468628171CACNB2,NSUN6c.1518A>C (p.Thr506=)
c.1383A>C (p.Thr461=)
c.1506A>C (p.Thr502=)
c.1578A>C (p.Thr526=)
c.1662A>C (p.Thr554=)
c.1500A>C (p.Thr500=)
c.1287A>C (p.Thr429=)
c.1464A>C (p.Thr488=)
c.*803A>C (n.*803A>C)
c.1404A>C (p.Thr468=)
c.*936A>C (n.*936A>C)
c.1219A>C (n.1219A>C)
c.*901A>C (n.*901A>C)
c.1482A>C (p.Thr494=)
c.*762A>C (n.*762A>C)
c.1590A>C (p.Thr530=)
c.912A>C (p.Thr304=)
c.1497A>C (p.Thr499=)
c.1366A>C (n.1366A>C)
c.174A>C (p.Thr58=)
c.747A>C (p.Thr249=)
c.1425A>C (p.Thr475=)
c.1548A>C (p.Thr516=)
c.822A>C (p.Thr274=)
c.1428A>C (p.Thr476=)
n.2423+2666T>G
n.1787A>C
10g.18539403A>GCA468628174CACNB2,NSUN6c.1518A>G (p.Thr506=)
c.1383A>G (p.Thr461=)
c.1506A>G (p.Thr502=)
c.1578A>G (p.Thr526=)
c.1662A>G (p.Thr554=)
c.1500A>G (p.Thr500=)
c.1287A>G (p.Thr429=)
c.1464A>G (p.Thr488=)
c.*803A>G (n.*803A>G)
c.1404A>G (p.Thr468=)
c.*936A>G (n.*936A>G)
c.1219A>G (n.1219A>G)
c.*901A>G (n.*901A>G)
c.1482A>G (p.Thr494=)
c.*762A>G (n.*762A>G)
c.1590A>G (p.Thr530=)
c.912A>G (p.Thr304=)
c.1497A>G (p.Thr499=)
c.1366A>G (n.1366A>G)
c.174A>G (p.Thr58=)
c.747A>G (p.Thr249=)
c.1425A>G (p.Thr475=)
c.1548A>G (p.Thr516=)
c.822A>G (p.Thr274=)
c.1428A>G (p.Thr476=)
n.2423+2666T>C
n.1787A>G
10g.18539403A>TCA468628176CACNB2,NSUN6c.1518A>T (p.Thr506=)
c.1383A>T (p.Thr461=)
c.1506A>T (p.Thr502=)
c.1578A>T (p.Thr526=)
c.1662A>T (p.Thr554=)
c.1500A>T (p.Thr500=)
c.1287A>T (p.Thr429=)
c.1464A>T (p.Thr488=)
c.*803A>T (n.*803A>T)
c.1404A>T (p.Thr468=)
c.*936A>T (n.*936A>T)
c.1219A>T (n.1219A>T)
c.*901A>T (n.*901A>T)
c.1482A>T (p.Thr494=)
c.*762A>T (n.*762A>T)
c.1590A>T (p.Thr530=)
c.912A>T (p.Thr304=)
c.1497A>T (p.Thr499=)
c.1366A>T (n.1366A>T)
c.174A>T (p.Thr58=)
c.747A>T (p.Thr249=)
c.1425A>T (p.Thr475=)
c.1548A>T (p.Thr516=)
c.822A>T (p.Thr274=)
c.1428A>T (p.Thr476=)
n.2423+2666T>A
n.1787A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539404T>ACA376071661CACNB2,NSUN6c.1519T>A (p.Phe507Ile)
c.1384T>A (p.Phe462Ile)
c.1507T>A (p.Phe503Ile)
c.1579T>A (p.Phe527Ile)
c.1663T>A (p.Phe555Ile)
c.1501T>A (p.Phe501Ile)
c.1288T>A (p.Phe430Ile)
c.1465T>A (p.Phe489Ile)
c.*804T>A (n.*804T>A)
c.1405T>A (p.Phe469Ile)
c.*937T>A (n.*937T>A)
c.1220T>A (n.1220T>A)
c.*902T>A (n.*902T>A)
c.1483T>A (p.Phe495Ile)
c.*763T>A (n.*763T>A)
c.1591T>A (p.Phe531Ile)
c.913T>A (p.Phe305Ile)
c.1498T>A (p.Phe500Ile)
c.1367T>A (n.1367T>A)
c.175T>A (p.Phe59Ile)
c.748T>A (p.Phe250Ile)
c.1426T>A (p.Phe476Ile)
c.1549T>A (p.Phe517Ile)
c.823T>A (p.Phe275Ile)
c.1429T>A (p.Phe477Ile)
n.2423+2665A>T
n.1788T>A
 gnomAD v4
10g.18539404T>CCA376071662CACNB2,NSUN6c.1519T>C (p.Phe507Leu)
c.1384T>C (p.Phe462Leu)
c.1507T>C (p.Phe503Leu)
c.1579T>C (p.Phe527Leu)
c.1663T>C (p.Phe555Leu)
c.1501T>C (p.Phe501Leu)
c.1288T>C (p.Phe430Leu)
c.1465T>C (p.Phe489Leu)
c.*804T>C (n.*804T>C)
c.1405T>C (p.Phe469Leu)
c.*937T>C (n.*937T>C)
c.1220T>C (n.1220T>C)
c.*902T>C (n.*902T>C)
c.1483T>C (p.Phe495Leu)
c.*763T>C (n.*763T>C)
c.1591T>C (p.Phe531Leu)
c.913T>C (p.Phe305Leu)
c.1498T>C (p.Phe500Leu)
c.1367T>C (n.1367T>C)
c.175T>C (p.Phe59Leu)
c.748T>C (p.Phe250Leu)
c.1426T>C (p.Phe476Leu)
c.1549T>C (p.Phe517Leu)
c.823T>C (p.Phe275Leu)
c.1429T>C (p.Phe477Leu)
n.2423+2665A>G
n.1788T>C
 ClinVar dbSNP gnomAD v4
10g.18539404T>GCA376071663CACNB2,NSUN6c.1519T>G (p.Phe507Val)
c.1384T>G (p.Phe462Val)
c.1507T>G (p.Phe503Val)
c.1579T>G (p.Phe527Val)
c.1663T>G (p.Phe555Val)
c.1501T>G (p.Phe501Val)
c.1288T>G (p.Phe430Val)
c.1465T>G (p.Phe489Val)
c.*804T>G (n.*804T>G)
c.1405T>G (p.Phe469Val)
c.*937T>G (n.*937T>G)
c.1220T>G (n.1220T>G)
c.*902T>G (n.*902T>G)
c.1483T>G (p.Phe495Val)
c.*763T>G (n.*763T>G)
c.1591T>G (p.Phe531Val)
c.913T>G (p.Phe305Val)
c.1498T>G (p.Phe500Val)
c.1367T>G (n.1367T>G)
c.175T>G (p.Phe59Val)
c.748T>G (p.Phe250Val)
c.1426T>G (p.Phe476Val)
c.1549T>G (p.Phe517Val)
c.823T>G (p.Phe275Val)
c.1429T>G (p.Phe477Val)
n.2423+2665A>C
n.1788T>G
10g.18539404T=CA1894173303CACNB2,NSUN6c.1519T= (p.Phe507=)
c.1384T= (p.Phe462=)
c.1507T= (p.Phe503=)
c.1579T= (p.Phe527=)
c.1663T= (p.Phe555=)
c.1501T= (p.Phe501=)
c.1288T= (p.Phe430=)
c.1465T= (p.Phe489=)
c.*804T= (n.*804T=)
c.1405T= (p.Phe469=)
c.*937T= (n.*937T=)
c.1220T= (n.1220T=)
c.*902T= (n.*902T=)
c.1483T= (p.Phe495=)
c.*763T= (n.*763T=)
c.1591T= (p.Phe531=)
c.913T= (p.Phe305=)
c.1498T= (p.Phe500=)
c.1367T= (n.1367T=)
c.175T= (p.Phe59=)
c.748T= (p.Phe250=)
c.1426T= (p.Phe476=)
c.1549T= (p.Phe517=)
c.823T= (p.Phe275=)
c.1429T= (p.Phe477=)
n.2423+2665A=
n.1788T=
10g.18539405T>ACA376071664CACNB2,NSUN6c.1520T>A (p.Phe507Tyr)
c.1385T>A (p.Phe462Tyr)
c.1508T>A (p.Phe503Tyr)
c.1580T>A (p.Phe527Tyr)
c.1664T>A (p.Phe555Tyr)
c.1502T>A (p.Phe501Tyr)
c.1289T>A (p.Phe430Tyr)
c.1466T>A (p.Phe489Tyr)
c.*805T>A (n.*805T>A)
c.1406T>A (p.Phe469Tyr)
c.*938T>A (n.*938T>A)
c.1221T>A (n.1221T>A)
c.*903T>A (n.*903T>A)
c.1484T>A (p.Phe495Tyr)
c.*764T>A (n.*764T>A)
c.1592T>A (p.Phe531Tyr)
c.914T>A (p.Phe305Tyr)
c.1499T>A (p.Phe500Tyr)
c.1368T>A (n.1368T>A)
c.176T>A (p.Phe59Tyr)
c.749T>A (p.Phe250Tyr)
c.1427T>A (p.Phe476Tyr)
c.1550T>A (p.Phe517Tyr)
c.824T>A (p.Phe275Tyr)
c.1430T>A (p.Phe477Tyr)
n.2423+2664A>T
n.1789T>A
10g.18539405T>CCA376071666CACNB2,NSUN6c.1520T>C (p.Phe507Ser)
c.1385T>C (p.Phe462Ser)
c.1508T>C (p.Phe503Ser)
c.1580T>C (p.Phe527Ser)
c.1664T>C (p.Phe555Ser)
c.1502T>C (p.Phe501Ser)
c.1289T>C (p.Phe430Ser)
c.1466T>C (p.Phe489Ser)
c.*805T>C (n.*805T>C)
c.1406T>C (p.Phe469Ser)
c.*938T>C (n.*938T>C)
c.1221T>C (n.1221T>C)
c.*903T>C (n.*903T>C)
c.1484T>C (p.Phe495Ser)
c.*764T>C (n.*764T>C)
c.1592T>C (p.Phe531Ser)
c.914T>C (p.Phe305Ser)
c.1499T>C (p.Phe500Ser)
c.1368T>C (n.1368T>C)
c.176T>C (p.Phe59Ser)
c.749T>C (p.Phe250Ser)
c.1427T>C (p.Phe476Ser)
c.1550T>C (p.Phe517Ser)
c.824T>C (p.Phe275Ser)
c.1430T>C (p.Phe477Ser)
n.2423+2664A>G
n.1789T>C
10g.18539405T>GCA376071668CACNB2,NSUN6c.1520T>G (p.Phe507Cys)
c.1385T>G (p.Phe462Cys)
c.1508T>G (p.Phe503Cys)
c.1580T>G (p.Phe527Cys)
c.1664T>G (p.Phe555Cys)
c.1502T>G (p.Phe501Cys)
c.1289T>G (p.Phe430Cys)
c.1466T>G (p.Phe489Cys)
c.*805T>G (n.*805T>G)
c.1406T>G (p.Phe469Cys)
c.*938T>G (n.*938T>G)
c.1221T>G (n.1221T>G)
c.*903T>G (n.*903T>G)
c.1484T>G (p.Phe495Cys)
c.*764T>G (n.*764T>G)
c.1592T>G (p.Phe531Cys)
c.914T>G (p.Phe305Cys)
c.1499T>G (p.Phe500Cys)
c.1368T>G (n.1368T>G)
c.176T>G (p.Phe59Cys)
c.749T>G (p.Phe250Cys)
c.1427T>G (p.Phe476Cys)
c.1550T>G (p.Phe517Cys)
c.824T>G (p.Phe275Cys)
c.1430T>G (p.Phe477Cys)
n.2423+2664A>C
n.1789T>G
10g.18539406T>ACA376071670CACNB2,NSUN6c.1521T>A (p.Phe507Leu)
c.1386T>A (p.Phe462Leu)
c.1509T>A (p.Phe503Leu)
c.1581T>A (p.Phe527Leu)
c.1665T>A (p.Phe555Leu)
c.1503T>A (p.Phe501Leu)
c.1290T>A (p.Phe430Leu)
c.1467T>A (p.Phe489Leu)
c.*806T>A (n.*806T>A)
c.1407T>A (p.Phe469Leu)
c.*939T>A (n.*939T>A)
c.1222T>A (n.1222T>A)
c.*904T>A (n.*904T>A)
c.1485T>A (p.Phe495Leu)
c.*765T>A (n.*765T>A)
c.1593T>A (p.Phe531Leu)
c.915T>A (p.Phe305Leu)
c.1500T>A (p.Phe500Leu)
c.1369T>A (n.1369T>A)
c.177T>A (p.Phe59Leu)
c.750T>A (p.Phe250Leu)
c.1428T>A (p.Phe476Leu)
c.1551T>A (p.Phe517Leu)
c.825T>A (p.Phe275Leu)
c.1431T>A (p.Phe477Leu)
n.2423+2663A>T
n.1790T>A
10g.18539406T>CCA468628190CACNB2,NSUN6c.1521T>C (p.Phe507=)
c.1386T>C (p.Phe462=)
c.1509T>C (p.Phe503=)
c.1581T>C (p.Phe527=)
c.1665T>C (p.Phe555=)
c.1503T>C (p.Phe501=)
c.1290T>C (p.Phe430=)
c.1467T>C (p.Phe489=)
c.*806T>C (n.*806T>C)
c.1407T>C (p.Phe469=)
c.*939T>C (n.*939T>C)
c.1222T>C (n.1222T>C)
c.*904T>C (n.*904T>C)
c.1485T>C (p.Phe495=)
c.*765T>C (n.*765T>C)
c.1593T>C (p.Phe531=)
c.915T>C (p.Phe305=)
c.1500T>C (p.Phe500=)
c.1369T>C (n.1369T>C)
c.177T>C (p.Phe59=)
c.750T>C (p.Phe250=)
c.1428T>C (p.Phe476=)
c.1551T>C (p.Phe517=)
c.825T>C (p.Phe275=)
c.1431T>C (p.Phe477=)
n.2423+2663A>G
n.1790T>C
 dbSNP
10g.18539406T>GCA10582712CACNB2,NSUN6c.1521T>G (p.Phe507Leu)
c.1386T>G (p.Phe462Leu)
c.1509T>G (p.Phe503Leu)
c.1581T>G (p.Phe527Leu)
c.1665T>G (p.Phe555Leu)
c.1503T>G (p.Phe501Leu)
c.1290T>G (p.Phe430Leu)
c.1467T>G (p.Phe489Leu)
c.*806T>G (n.*806T>G)
c.1407T>G (p.Phe469Leu)
c.*939T>G (n.*939T>G)
c.1222T>G (n.1222T>G)
c.*904T>G (n.*904T>G)
c.1485T>G (p.Phe495Leu)
c.*765T>G (n.*765T>G)
c.1593T>G (p.Phe531Leu)
c.915T>G (p.Phe305Leu)
c.1500T>G (p.Phe500Leu)
c.1369T>G (n.1369T>G)
c.177T>G (p.Phe59Leu)
c.750T>G (p.Phe250Leu)
c.1428T>G (p.Phe476Leu)
c.1551T>G (p.Phe517Leu)
c.825T>G (p.Phe275Leu)
c.1431T>G (p.Phe477Leu)
n.2423+2663A>C
n.1790T>G
 ClinVar dbSNP
10g.18539406T=CA1894173306CACNB2,NSUN6c.1521T= (p.Phe507=)
c.1386T= (p.Phe462=)
c.1509T= (p.Phe503=)
c.1581T= (p.Phe527=)
c.1665T= (p.Phe555=)
c.1503T= (p.Phe501=)
c.1290T= (p.Phe430=)
c.1467T= (p.Phe489=)
c.*806T= (n.*806T=)
c.1407T= (p.Phe469=)
c.*939T= (n.*939T=)
c.1222T= (n.1222T=)
c.*904T= (n.*904T=)
c.1485T= (p.Phe495=)
c.*765T= (n.*765T=)
c.1593T= (p.Phe531=)
c.915T= (p.Phe305=)
c.1500T= (p.Phe500=)
c.1369T= (n.1369T=)
c.177T= (p.Phe59=)
c.750T= (p.Phe250=)
c.1428T= (p.Phe476=)
c.1551T= (p.Phe517=)
c.825T= (p.Phe275=)
c.1431T= (p.Phe477=)
n.2423+2663A=
n.1790T=
10g.18539407G>ACA376071672CACNB2,NSUN6c.1522G>A (p.Asp508Asn)
c.1387G>A (p.Asp463Asn)
c.1510G>A (p.Asp504Asn)
c.1582G>A (p.Asp528Asn)
c.1666G>A (p.Asp556Asn)
c.1504G>A (p.Asp502Asn)
c.1291G>A (p.Asp431Asn)
c.1468G>A (p.Asp490Asn)
c.*807G>A (n.*807G>A)
c.1408G>A (p.Asp470Asn)
c.*940G>A (n.*940G>A)
c.1223G>A (n.1223G>A)
c.*905G>A (n.*905G>A)
c.1486G>A (p.Asp496Asn)
c.*766G>A (n.*766G>A)
c.1594G>A (p.Asp532Asn)
c.916G>A (p.Asp306Asn)
c.1501G>A (p.Asp501Asn)
c.1370G>A (n.1370G>A)
c.178G>A (p.Asp60Asn)
c.751G>A (p.Asp251Asn)
c.1429G>A (p.Asp477Asn)
c.1552G>A (p.Asp518Asn)
c.826G>A (p.Asp276Asn)
c.1432G>A (p.Asp478Asn)
n.2423+2662C>T
n.1791G>A
10g.18539407G>CCA376071673CACNB2,NSUN6c.1522G>C (p.Asp508His)
c.1387G>C (p.Asp463His)
c.1510G>C (p.Asp504His)
c.1582G>C (p.Asp528His)
c.1666G>C (p.Asp556His)
c.1504G>C (p.Asp502His)
c.1291G>C (p.Asp431His)
c.1468G>C (p.Asp490His)
c.*807G>C (n.*807G>C)
c.1408G>C (p.Asp470His)
c.*940G>C (n.*940G>C)
c.1223G>C (n.1223G>C)
c.*905G>C (n.*905G>C)
c.1486G>C (p.Asp496His)
c.*766G>C (n.*766G>C)
c.1594G>C (p.Asp532His)
c.916G>C (p.Asp306His)
c.1501G>C (p.Asp501His)
c.1370G>C (n.1370G>C)
c.178G>C (p.Asp60His)
c.751G>C (p.Asp251His)
c.1429G>C (p.Asp477His)
c.1552G>C (p.Asp518His)
c.826G>C (p.Asp276His)
c.1432G>C (p.Asp478His)
n.2423+2662C>G
n.1791G>C
10g.18539407G>TCA376071675CACNB2,NSUN6c.1522G>T (p.Asp508Tyr)
c.1387G>T (p.Asp463Tyr)
c.1510G>T (p.Asp504Tyr)
c.1582G>T (p.Asp528Tyr)
c.1666G>T (p.Asp556Tyr)
c.1504G>T (p.Asp502Tyr)
c.1291G>T (p.Asp431Tyr)
c.1468G>T (p.Asp490Tyr)
c.*807G>T (n.*807G>T)
c.1408G>T (p.Asp470Tyr)
c.*940G>T (n.*940G>T)
c.1223G>T (n.1223G>T)
c.*905G>T (n.*905G>T)
c.1486G>T (p.Asp496Tyr)
c.*766G>T (n.*766G>T)
c.1594G>T (p.Asp532Tyr)
c.916G>T (p.Asp306Tyr)
c.1501G>T (p.Asp501Tyr)
c.1370G>T (n.1370G>T)
c.178G>T (p.Asp60Tyr)
c.751G>T (p.Asp251Tyr)
c.1429G>T (p.Asp477Tyr)
c.1552G>T (p.Asp518Tyr)
c.826G>T (p.Asp276Tyr)
c.1432G>T (p.Asp478Tyr)
n.2423+2662C>A
n.1791G>T
 gnomAD v4
10g.18539408A>CCA376071679CACNB2,NSUN6c.1523A>C (p.Asp508Ala)
c.1388A>C (p.Asp463Ala)
c.1511A>C (p.Asp504Ala)
c.1583A>C (p.Asp528Ala)
c.1667A>C (p.Asp556Ala)
c.1505A>C (p.Asp502Ala)
c.1292A>C (p.Asp431Ala)
c.1469A>C (p.Asp490Ala)
c.*808A>C (n.*808A>C)
c.1409A>C (p.Asp470Ala)
c.*941A>C (n.*941A>C)
c.1224A>C (n.1224A>C)
c.*906A>C (n.*906A>C)
c.1487A>C (p.Asp496Ala)
c.*767A>C (n.*767A>C)
c.1595A>C (p.Asp532Ala)
c.917A>C (p.Asp306Ala)
c.1502A>C (p.Asp501Ala)
c.1371A>C (n.1371A>C)
c.179A>C (p.Asp60Ala)
c.752A>C (p.Asp251Ala)
c.1430A>C (p.Asp477Ala)
c.1553A>C (p.Asp518Ala)
c.827A>C (p.Asp276Ala)
c.1433A>C (p.Asp478Ala)
n.2423+2661T>G
n.1792A>C
10g.18539408A>GCA376071681CACNB2,NSUN6c.1523A>G (p.Asp508Gly)
c.1388A>G (p.Asp463Gly)
c.1511A>G (p.Asp504Gly)
c.1583A>G (p.Asp528Gly)
c.1667A>G (p.Asp556Gly)
c.1505A>G (p.Asp502Gly)
c.1292A>G (p.Asp431Gly)
c.1469A>G (p.Asp490Gly)
c.*808A>G (n.*808A>G)
c.1409A>G (p.Asp470Gly)
c.*941A>G (n.*941A>G)
c.1224A>G (n.1224A>G)
c.*906A>G (n.*906A>G)
c.1487A>G (p.Asp496Gly)
c.*767A>G (n.*767A>G)
c.1595A>G (p.Asp532Gly)
c.917A>G (p.Asp306Gly)
c.1502A>G (p.Asp501Gly)
c.1371A>G (n.1371A>G)
c.179A>G (p.Asp60Gly)
c.752A>G (p.Asp251Gly)
c.1430A>G (p.Asp477Gly)
c.1553A>G (p.Asp518Gly)
c.827A>G (p.Asp276Gly)
c.1433A>G (p.Asp478Gly)
n.2423+2661T>C
n.1792A>G
10g.18539408A>TCA376071678CACNB2,NSUN6c.1523A>T (p.Asp508Val)
c.1388A>T (p.Asp463Val)
c.1511A>T (p.Asp504Val)
c.1583A>T (p.Asp528Val)
c.1667A>T (p.Asp556Val)
c.1505A>T (p.Asp502Val)
c.1292A>T (p.Asp431Val)
c.1469A>T (p.Asp490Val)
c.*808A>T (n.*808A>T)
c.1409A>T (p.Asp470Val)
c.*941A>T (n.*941A>T)
c.1224A>T (n.1224A>T)
c.*906A>T (n.*906A>T)
c.1487A>T (p.Asp496Val)
c.*767A>T (n.*767A>T)
c.1595A>T (p.Asp532Val)
c.917A>T (p.Asp306Val)
c.1502A>T (p.Asp501Val)
c.1371A>T (n.1371A>T)
c.179A>T (p.Asp60Val)
c.752A>T (p.Asp251Val)
c.1430A>T (p.Asp477Val)
c.1553A>T (p.Asp518Val)
c.827A>T (p.Asp276Val)
c.1433A>T (p.Asp478Val)
n.2423+2661T>A
n.1792A>T
10g.18539410_18539417delCA2608435614CACNB2,NSUN6c.1525_1532del (p.Ser509ProfsTer18)
c.1390_1397del (p.Ser464ProfsTer18)
c.1513_1520del (p.Ser505ProfsTer18)
c.1585_1592del (p.Ser529ProfsTer18)
c.1669_1676del (p.Ser557ProfsTer18)
c.1507_1514del (p.Ser503ProfsTer18)
c.1294_1301del (p.Ser432ProfsTer18)
c.1471_1478del (p.Ser491ProfsTer18)
c.*810_*817del (n.*810_*817del)
c.1411_1418del (p.Ser471ProfsTer18)
c.*943_*950del (n.*943_*950del)
c.1226_1233del (n.1226_1233del)
c.*908_*915del (n.*908_*915del)
c.1489_1496del (p.Ser497ProfsTer18)
c.*769_*776del (n.*769_*776del)
c.1597_1604del (p.Ser533ProfsTer18)
c.919_926del (p.Ser307ProfsTer18)
c.1504_1511del (p.Ser502ProfsTer18)
c.1373_1380del (n.1373_1380del)
c.181_188del (p.Ser61ProfsTer18)
c.754_761del (p.Ser252ProfsTer18)
c.1432_1439del (p.Ser478ProfsTer18)
c.1555_1562del (p.Ser519ProfsTer18)
c.829_836del (p.Ser277ProfsTer18)
c.1435_1442del (p.Ser479ProfsTer18)
n.2423+2654_2423+2661del
n.1794_1801del
 gnomAD v4
10g.18539409C>ACA376071685CACNB2,NSUN6c.1524C>A (p.Asp508Glu)
c.1389C>A (p.Asp463Glu)
c.1512C>A (p.Asp504Glu)
c.1584C>A (p.Asp528Glu)
c.1668C>A (p.Asp556Glu)
c.1506C>A (p.Asp502Glu)
c.1293C>A (p.Asp431Glu)
c.1470C>A (p.Asp490Glu)
c.*809C>A (n.*809C>A)
c.1410C>A (p.Asp470Glu)
c.*942C>A (n.*942C>A)
c.1225C>A (n.1225C>A)
c.*907C>A (n.*907C>A)
c.1488C>A (p.Asp496Glu)
c.*768C>A (n.*768C>A)
c.1596C>A (p.Asp532Glu)
c.918C>A (p.Asp306Glu)
c.1503C>A (p.Asp501Glu)
c.1372C>A (n.1372C>A)
c.180C>A (p.Asp60Glu)
c.753C>A (p.Asp251Glu)
c.1431C>A (p.Asp477Glu)
c.1554C>A (p.Asp518Glu)
c.828C>A (p.Asp276Glu)
c.1434C>A (p.Asp478Glu)
n.2423+2660G>T
n.1793C>A
10g.18539409C>GCA376071683CACNB2,NSUN6c.1524C>G (p.Asp508Glu)
c.1389C>G (p.Asp463Glu)
c.1512C>G (p.Asp504Glu)
c.1584C>G (p.Asp528Glu)
c.1668C>G (p.Asp556Glu)
c.1506C>G (p.Asp502Glu)
c.1293C>G (p.Asp431Glu)
c.1470C>G (p.Asp490Glu)
c.*809C>G (n.*809C>G)
c.1410C>G (p.Asp470Glu)
c.*942C>G (n.*942C>G)
c.1225C>G (n.1225C>G)
c.*907C>G (n.*907C>G)
c.1488C>G (p.Asp496Glu)
c.*768C>G (n.*768C>G)
c.1596C>G (p.Asp532Glu)
c.918C>G (p.Asp306Glu)
c.1503C>G (p.Asp501Glu)
c.1372C>G (n.1372C>G)
c.180C>G (p.Asp60Glu)
c.753C>G (p.Asp251Glu)
c.1431C>G (p.Asp477Glu)
c.1554C>G (p.Asp518Glu)
c.828C>G (p.Asp276Glu)
c.1434C>G (p.Asp478Glu)
n.2423+2660G>C
n.1793C>G
10g.18539409C>TCA468628219CACNB2,NSUN6c.1524C>T (p.Asp508=)
c.1389C>T (p.Asp463=)
c.1512C>T (p.Asp504=)
c.1584C>T (p.Asp528=)
c.1668C>T (p.Asp556=)
c.1506C>T (p.Asp502=)
c.1293C>T (p.Asp431=)
c.1470C>T (p.Asp490=)
c.*809C>T (n.*809C>T)
c.1410C>T (p.Asp470=)
c.*942C>T (n.*942C>T)
c.1225C>T (n.1225C>T)
c.*907C>T (n.*907C>T)
c.1488C>T (p.Asp496=)
c.*768C>T (n.*768C>T)
c.1596C>T (p.Asp532=)
c.918C>T (p.Asp306=)
c.1503C>T (p.Asp501=)
c.1372C>T (n.1372C>T)
c.180C>T (p.Asp60=)
c.753C>T (p.Asp251=)
c.1431C>T (p.Asp477=)
c.1554C>T (p.Asp518=)
c.828C>T (p.Asp276=)
c.1434C>T (p.Asp478=)
n.2423+2660G>A
n.1793C>T
 gnomAD v4
10g.18539410T>ACA376071686CACNB2,NSUN6c.1525T>A (p.Ser509Thr)
c.1390T>A (p.Ser464Thr)
c.1513T>A (p.Ser505Thr)
c.1585T>A (p.Ser529Thr)
c.1669T>A (p.Ser557Thr)
c.1507T>A (p.Ser503Thr)
c.1294T>A (p.Ser432Thr)
c.1471T>A (p.Ser491Thr)
c.*810T>A (n.*810T>A)
c.1411T>A (p.Ser471Thr)
c.*943T>A (n.*943T>A)
c.1226T>A (n.1226T>A)
c.*908T>A (n.*908T>A)
c.1489T>A (p.Ser497Thr)
c.*769T>A (n.*769T>A)
c.1597T>A (p.Ser533Thr)
c.919T>A (p.Ser307Thr)
c.1504T>A (p.Ser502Thr)
c.1373T>A (n.1373T>A)
c.181T>A (p.Ser61Thr)
c.754T>A (p.Ser252Thr)
c.1432T>A (p.Ser478Thr)
c.1555T>A (p.Ser519Thr)
c.829T>A (p.Ser277Thr)
c.1435T>A (p.Ser479Thr)
n.2423+2659A>T
n.1794T>A
10g.18539410T>CCA376071688CACNB2,NSUN6c.1525T>C (p.Ser509Pro)
c.1390T>C (p.Ser464Pro)
c.1513T>C (p.Ser505Pro)
c.1585T>C (p.Ser529Pro)
c.1669T>C (p.Ser557Pro)
c.1507T>C (p.Ser503Pro)
c.1294T>C (p.Ser432Pro)
c.1471T>C (p.Ser491Pro)
c.*810T>C (n.*810T>C)
c.1411T>C (p.Ser471Pro)
c.*943T>C (n.*943T>C)
c.1226T>C (n.1226T>C)
c.*908T>C (n.*908T>C)
c.1489T>C (p.Ser497Pro)
c.*769T>C (n.*769T>C)
c.1597T>C (p.Ser533Pro)
c.919T>C (p.Ser307Pro)
c.1504T>C (p.Ser502Pro)
c.1373T>C (n.1373T>C)
c.181T>C (p.Ser61Pro)
c.754T>C (p.Ser252Pro)
c.1432T>C (p.Ser478Pro)
c.1555T>C (p.Ser519Pro)
c.829T>C (p.Ser277Pro)
c.1435T>C (p.Ser479Pro)
n.2423+2659A>G
n.1794T>C
 gnomAD v4
10g.18539410T>GCA376071689CACNB2,NSUN6c.1525T>G (p.Ser509Ala)
c.1390T>G (p.Ser464Ala)
c.1513T>G (p.Ser505Ala)
c.1585T>G (p.Ser529Ala)
c.1669T>G (p.Ser557Ala)
c.1507T>G (p.Ser503Ala)
c.1294T>G (p.Ser432Ala)
c.1471T>G (p.Ser491Ala)
c.*810T>G (n.*810T>G)
c.1411T>G (p.Ser471Ala)
c.*943T>G (n.*943T>G)
c.1226T>G (n.1226T>G)
c.*908T>G (n.*908T>G)
c.1489T>G (p.Ser497Ala)
c.*769T>G (n.*769T>G)
c.1597T>G (p.Ser533Ala)
c.919T>G (p.Ser307Ala)
c.1504T>G (p.Ser502Ala)
c.1373T>G (n.1373T>G)
c.181T>G (p.Ser61Ala)
c.754T>G (p.Ser252Ala)
c.1432T>G (p.Ser478Ala)
c.1555T>G (p.Ser519Ala)
c.829T>G (p.Ser277Ala)
c.1435T>G (p.Ser479Ala)
n.2423+2659A>C
n.1794T>G
 gnomAD v4
10g.18539411C>ACA376071691CACNB2,NSUN6c.1526C>A (p.Ser509Ter)
c.1391C>A (p.Ser464Ter)
c.1514C>A (p.Ser505Ter)
c.1586C>A (p.Ser529Ter)
c.1670C>A (p.Ser557Ter)
c.1508C>A (p.Ser503Ter)
c.1295C>A (p.Ser432Ter)
c.1472C>A (p.Ser491Ter)
c.*811C>A (n.*811C>A)
c.1412C>A (p.Ser471Ter)
c.*944C>A (n.*944C>A)
c.1227C>A (n.1227C>A)
c.*909C>A (n.*909C>A)
c.1490C>A (p.Ser497Ter)
c.*770C>A (n.*770C>A)
c.1598C>A (p.Ser533Ter)
c.920C>A (p.Ser307Ter)
c.1505C>A (p.Ser502Ter)
c.1374C>A (n.1374C>A)
c.182C>A (p.Ser61Ter)
c.755C>A (p.Ser252Ter)
c.1433C>A (p.Ser478Ter)
c.1556C>A (p.Ser519Ter)
c.830C>A (p.Ser277Ter)
c.1436C>A (p.Ser479Ter)
n.2423+2658G>T
n.1795C>A
 dbSNP
10g.18539411C=CA1894173308CACNB2,NSUN6c.1526C= (p.Ser509=)
c.1391C= (p.Ser464=)
c.1514C= (p.Ser505=)
c.1586C= (p.Ser529=)
c.1670C= (p.Ser557=)
c.1508C= (p.Ser503=)
c.1295C= (p.Ser432=)
c.1472C= (p.Ser491=)
c.*811C= (n.*811C=)
c.1412C= (p.Ser471=)
c.*944C= (n.*944C=)
c.1227C= (n.1227C=)
c.*909C= (n.*909C=)
c.1490C= (p.Ser497=)
c.*770C= (n.*770C=)
c.1598C= (p.Ser533=)
c.920C= (p.Ser307=)
c.1505C= (p.Ser502=)
c.1374C= (n.1374C=)
c.182C= (p.Ser61=)
c.755C= (p.Ser252=)
c.1433C= (p.Ser478=)
c.1556C= (p.Ser519=)
c.830C= (p.Ser277=)
c.1436C= (p.Ser479=)
n.2423+2658G=
n.1795C=
10g.18539411C>GCA5430123CACNB2,NSUN6c.1526C>G (p.Ser509Trp)
c.1391C>G (p.Ser464Trp)
c.1514C>G (p.Ser505Trp)
c.1586C>G (p.Ser529Trp)
c.1670C>G (p.Ser557Trp)
c.1508C>G (p.Ser503Trp)
c.1295C>G (p.Ser432Trp)
c.1472C>G (p.Ser491Trp)
c.*811C>G (n.*811C>G)
c.1412C>G (p.Ser471Trp)
c.*944C>G (n.*944C>G)
c.1227C>G (n.1227C>G)
c.*909C>G (n.*909C>G)
c.1490C>G (p.Ser497Trp)
c.*770C>G (n.*770C>G)
c.1598C>G (p.Ser533Trp)
c.920C>G (p.Ser307Trp)
c.1505C>G (p.Ser502Trp)
c.1374C>G (n.1374C>G)
c.182C>G (p.Ser61Trp)
c.755C>G (p.Ser252Trp)
c.1433C>G (p.Ser478Trp)
c.1556C>G (p.Ser519Trp)
c.830C>G (p.Ser277Trp)
c.1436C>G (p.Ser479Trp)
n.2423+2658G>C
n.1795C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539411C>TCA301867CACNB2,NSUN6c.1526C>T (p.Ser509Leu)
c.1391C>T (p.Ser464Leu)
c.1514C>T (p.Ser505Leu)
c.1586C>T (p.Ser529Leu)
c.1670C>T (p.Ser557Leu)
c.1508C>T (p.Ser503Leu)
c.1295C>T (p.Ser432Leu)
c.1472C>T (p.Ser491Leu)
c.*811C>T (n.*811C>T)
c.1412C>T (p.Ser471Leu)
c.*944C>T (n.*944C>T)
c.1227C>T (n.1227C>T)
c.*909C>T (n.*909C>T)
c.1490C>T (p.Ser497Leu)
c.*770C>T (n.*770C>T)
c.1598C>T (p.Ser533Leu)
c.920C>T (p.Ser307Leu)
c.1505C>T (p.Ser502Leu)
c.1374C>T (n.1374C>T)
c.182C>T (p.Ser61Leu)
c.755C>T (p.Ser252Leu)
c.1433C>T (p.Ser478Leu)
c.1556C>T (p.Ser519Leu)
c.830C>T (p.Ser277Leu)
c.1436C>T (p.Ser479Leu)
n.2423+2658G>A
n.1795C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539412G>ACA5430124CACNB2,NSUN6c.1527G>A (p.Ser509=)
c.1392G>A (p.Ser464=)
c.1515G>A (p.Ser505=)
c.1587G>A (p.Ser529=)
c.1671G>A (p.Ser557=)
c.1509G>A (p.Ser503=)
c.1296G>A (p.Ser432=)
c.1473G>A (p.Ser491=)
c.*812G>A (n.*812G>A)
c.1413G>A (p.Ser471=)
c.*945G>A (n.*945G>A)
c.1228G>A (n.1228G>A)
c.*910G>A (n.*910G>A)
c.1491G>A (p.Ser497=)
c.*771G>A (n.*771G>A)
c.1599G>A (p.Ser533=)
c.921G>A (p.Ser307=)
c.1506G>A (p.Ser502=)
c.1375G>A (n.1375G>A)
c.183G>A (p.Ser61=)
c.756G>A (p.Ser252=)
c.1434G>A (p.Ser478=)
c.1557G>A (p.Ser519=)
c.831G>A (p.Ser277=)
c.1437G>A (p.Ser479=)
n.2423+2657C>T
n.1796G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.18539412G>CCA468628245CACNB2,NSUN6c.1527G>C (p.Ser509=)
c.1392G>C (p.Ser464=)
c.1515G>C (p.Ser505=)
c.1587G>C (p.Ser529=)
c.1671G>C (p.Ser557=)
c.1509G>C (p.Ser503=)
c.1296G>C (p.Ser432=)
c.1473G>C (p.Ser491=)
c.*812G>C (n.*812G>C)
c.1413G>C (p.Ser471=)
c.*945G>C (n.*945G>C)
c.1228G>C (n.1228G>C)
c.*910G>C (n.*910G>C)
c.1491G>C (p.Ser497=)
c.*771G>C (n.*771G>C)
c.1599G>C (p.Ser533=)
c.921G>C (p.Ser307=)
c.1506G>C (p.Ser502=)
c.1375G>C (n.1375G>C)
c.183G>C (p.Ser61=)
c.756G>C (p.Ser252=)
c.1434G>C (p.Ser478=)
c.1557G>C (p.Ser519=)
c.831G>C (p.Ser277=)
c.1437G>C (p.Ser479=)
n.2423+2657C>G
n.1796G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.18539412G=CA1894173309CACNB2,NSUN6c.1527G= (p.Ser509=)
c.1392G= (p.Ser464=)
c.1515G= (p.Ser505=)
c.1587G= (p.Ser529=)
c.1671G= (p.Ser557=)
c.1509G= (p.Ser503=)
c.1296G= (p.Ser432=)
c.1473G= (p.Ser491=)
c.*812G= (n.*812G=)
c.1413G= (p.Ser471=)
c.*945G= (n.*945G=)
c.1228G= (n.1228G=)
c.*910G= (n.*910G=)
c.1491G= (p.Ser497=)
c.*771G= (n.*771G=)
c.1599G= (p.Ser533=)
c.921G= (p.Ser307=)
c.1506G= (p.Ser502=)
c.1375G= (n.1375G=)
c.183G= (p.Ser61=)
c.756G= (p.Ser252=)
c.1434G= (p.Ser478=)
c.1557G= (p.Ser519=)
c.831G= (p.Ser277=)
c.1437G= (p.Ser479=)
n.2423+2657C=
n.1796G=
10g.18539412G>TCA468628246CACNB2,NSUN6c.1527G>T (p.Ser509=)
c.1392G>T (p.Ser464=)
c.1515G>T (p.Ser505=)
c.1587G>T (p.Ser529=)
c.1671G>T (p.Ser557=)
c.1509G>T (p.Ser503=)
c.1296G>T (p.Ser432=)
c.1473G>T (p.Ser491=)
c.*812G>T (n.*812G>T)
c.1413G>T (p.Ser471=)
c.*945G>T (n.*945G>T)
c.1228G>T (n.1228G>T)
c.*910G>T (n.*910G>T)
c.1491G>T (p.Ser497=)
c.*771G>T (n.*771G>T)
c.1599G>T (p.Ser533=)
c.921G>T (p.Ser307=)
c.1506G>T (p.Ser502=)
c.1375G>T (n.1375G>T)
c.183G>T (p.Ser61=)
c.756G>T (p.Ser252=)
c.1434G>T (p.Ser478=)
c.1557G>T (p.Ser519=)
c.831G>T (p.Ser277=)
c.1437G>T (p.Ser479=)
n.2423+2657C>A
n.1796G>T
10g.18539413G>ACA376071695CACNB2,NSUN6c.1528G>A (p.Glu510Lys)
c.1393G>A (p.Glu465Lys)
c.1516G>A (p.Glu506Lys)
c.1588G>A (p.Glu530Lys)
c.1672G>A (p.Glu558Lys)
c.1510G>A (p.Glu504Lys)
c.1297G>A (p.Glu433Lys)
c.1474G>A (p.Glu492Lys)
c.*813G>A (n.*813G>A)
c.1414G>A (p.Glu472Lys)
c.*946G>A (n.*946G>A)
c.1229G>A (n.1229G>A)
c.*911G>A (n.*911G>A)
c.1492G>A (p.Glu498Lys)
c.*772G>A (n.*772G>A)
c.1600G>A (p.Glu534Lys)
c.922G>A (p.Glu308Lys)
c.1507G>A (p.Glu503Lys)
c.1376G>A (n.1376G>A)
c.184G>A (p.Glu62Lys)
c.757G>A (p.Glu253Lys)
c.1435G>A (p.Glu479Lys)
c.1558G>A (p.Glu520Lys)
c.832G>A (p.Glu278Lys)
c.1438G>A (p.Glu480Lys)
n.2423+2656C>T
n.1797G>A
 dbSNP gnomAD v3 gnomAD v4
10g.18539413G>CCA376071696CACNB2,NSUN6c.1528G>C (p.Glu510Gln)
c.1393G>C (p.Glu465Gln)
c.1516G>C (p.Glu506Gln)
c.1588G>C (p.Glu530Gln)
c.1672G>C (p.Glu558Gln)
c.1510G>C (p.Glu504Gln)
c.1297G>C (p.Glu433Gln)
c.1474G>C (p.Glu492Gln)
c.*813G>C (n.*813G>C)
c.1414G>C (p.Glu472Gln)
c.*946G>C (n.*946G>C)
c.1229G>C (n.1229G>C)
c.*911G>C (n.*911G>C)
c.1492G>C (p.Glu498Gln)
c.*772G>C (n.*772G>C)
c.1600G>C (p.Glu534Gln)
c.922G>C (p.Glu308Gln)
c.1507G>C (p.Glu503Gln)
c.1376G>C (n.1376G>C)
c.184G>C (p.Glu62Gln)
c.757G>C (p.Glu253Gln)
c.1435G>C (p.Glu479Gln)
c.1558G>C (p.Glu520Gln)
c.832G>C (p.Glu278Gln)
c.1438G>C (p.Glu480Gln)
n.2423+2656C>G
n.1797G>C
 gnomAD v4
10g.18539413G=CA1894173310CACNB2,NSUN6c.1528G= (p.Glu510=)
c.1393G= (p.Glu465=)
c.1516G= (p.Glu506=)
c.1588G= (p.Glu530=)
c.1672G= (p.Glu558=)
c.1510G= (p.Glu504=)
c.1297G= (p.Glu433=)
c.1474G= (p.Glu492=)
c.*813G= (n.*813G=)
c.1414G= (p.Glu472=)
c.*946G= (n.*946G=)
c.1229G= (n.1229G=)
c.*911G= (n.*911G=)
c.1492G= (p.Glu498=)
c.*772G= (n.*772G=)
c.1600G= (p.Glu534=)
c.922G= (p.Glu308=)
c.1507G= (p.Glu503=)
c.1376G= (n.1376G=)
c.184G= (p.Glu62=)
c.757G= (p.Glu253=)
c.1435G= (p.Glu479=)
c.1558G= (p.Glu520=)
c.832G= (p.Glu278=)
c.1438G= (p.Glu480=)
n.2423+2656C=
n.1797G=
10g.18539413G>TCA376071698CACNB2,NSUN6c.1528G>T (p.Glu510Ter)
c.1393G>T (p.Glu465Ter)
c.1516G>T (p.Glu506Ter)
c.1588G>T (p.Glu530Ter)
c.1672G>T (p.Glu558Ter)
c.1510G>T (p.Glu504Ter)
c.1297G>T (p.Glu433Ter)
c.1474G>T (p.Glu492Ter)
c.*813G>T (n.*813G>T)
c.1414G>T (p.Glu472Ter)
c.*946G>T (n.*946G>T)
c.1229G>T (n.1229G>T)
c.*911G>T (n.*911G>T)
c.1492G>T (p.Glu498Ter)
c.*772G>T (n.*772G>T)
c.1600G>T (p.Glu534Ter)
c.922G>T (p.Glu308Ter)
c.1507G>T (p.Glu503Ter)
c.1376G>T (n.1376G>T)
c.184G>T (p.Glu62Ter)
c.757G>T (p.Glu253Ter)
c.1435G>T (p.Glu479Ter)
c.1558G>T (p.Glu520Ter)
c.832G>T (p.Glu278Ter)
c.1438G>T (p.Glu480Ter)
n.2423+2656C>A
n.1797G>T
 dbSNP
10g.18539414A>CCA376071700CACNB2,NSUN6c.1529A>C (p.Glu510Ala)
c.1394A>C (p.Glu465Ala)
c.1517A>C (p.Glu506Ala)
c.1589A>C (p.Glu530Ala)
c.1673A>C (p.Glu558Ala)
c.1511A>C (p.Glu504Ala)
c.1298A>C (p.Glu433Ala)
c.1475A>C (p.Glu492Ala)
c.*814A>C (n.*814A>C)
c.1415A>C (p.Glu472Ala)
c.*947A>C (n.*947A>C)
c.1230A>C (n.1230A>C)
c.*912A>C (n.*912A>C)
c.1493A>C (p.Glu498Ala)
c.*773A>C (n.*773A>C)
c.1601A>C (p.Glu534Ala)
c.923A>C (p.Glu308Ala)
c.1508A>C (p.Glu503Ala)
c.1377A>C (n.1377A>C)
c.185A>C (p.Glu62Ala)
c.758A>C (p.Glu253Ala)
c.1436A>C (p.Glu479Ala)
c.1559A>C (p.Glu520Ala)
c.833A>C (p.Glu278Ala)
c.1439A>C (p.Glu480Ala)
n.2423+2655T>G
n.1798A>C
 gnomAD v4
10g.18539414A>GCA376071701CACNB2,NSUN6c.1529A>G (p.Glu510Gly)
c.1394A>G (p.Glu465Gly)
c.1517A>G (p.Glu506Gly)
c.1589A>G (p.Glu530Gly)
c.1673A>G (p.Glu558Gly)
c.1511A>G (p.Glu504Gly)
c.1298A>G (p.Glu433Gly)
c.1475A>G (p.Glu492Gly)
c.*814A>G (n.*814A>G)
c.1415A>G (p.Glu472Gly)
c.*947A>G (n.*947A>G)
c.1230A>G (n.1230A>G)
c.*912A>G (n.*912A>G)
c.1493A>G (p.Glu498Gly)
c.*773A>G (n.*773A>G)
c.1601A>G (p.Glu534Gly)
c.923A>G (p.Glu308Gly)
c.1508A>G (p.Glu503Gly)
c.1377A>G (n.1377A>G)
c.185A>G (p.Glu62Gly)
c.758A>G (p.Glu253Gly)
c.1436A>G (p.Glu479Gly)
c.1559A>G (p.Glu520Gly)
c.833A>G (p.Glu278Gly)
c.1439A>G (p.Glu480Gly)
n.2423+2655T>C
n.1798A>G
10g.18539414A>TCA376071703CACNB2,NSUN6c.1529A>T (p.Glu510Val)
c.1394A>T (p.Glu465Val)
c.1517A>T (p.Glu506Val)
c.1589A>T (p.Glu530Val)
c.1673A>T (p.Glu558Val)
c.1511A>T (p.Glu504Val)
c.1298A>T (p.Glu433Val)
c.1475A>T (p.Glu492Val)
c.*814A>T (n.*814A>T)
c.1415A>T (p.Glu472Val)
c.*947A>T (n.*947A>T)
c.1230A>T (n.1230A>T)
c.*912A>T (n.*912A>T)
c.1493A>T (p.Glu498Val)
c.*773A>T (n.*773A>T)
c.1601A>T (p.Glu534Val)
c.923A>T (p.Glu308Val)
c.1508A>T (p.Glu503Val)
c.1377A>T (n.1377A>T)
c.185A>T (p.Glu62Val)
c.758A>T (p.Glu253Val)
c.1436A>T (p.Glu479Val)
c.1559A>T (p.Glu520Val)
c.833A>T (p.Glu278Val)
c.1439A>T (p.Glu480Val)
n.2423+2655T>A
n.1798A>T
10g.18539415A>CCA376071704CACNB2,NSUN6c.1530A>C (p.Glu510Asp)
c.1395A>C (p.Glu465Asp)
c.1518A>C (p.Glu506Asp)
c.1590A>C (p.Glu530Asp)
c.1674A>C (p.Glu558Asp)
c.1512A>C (p.Glu504Asp)
c.1299A>C (p.Glu433Asp)
c.1476A>C (p.Glu492Asp)
c.*815A>C (n.*815A>C)
c.1416A>C (p.Glu472Asp)
c.*948A>C (n.*948A>C)
c.1231A>C (n.1231A>C)
c.*913A>C (n.*913A>C)
c.1494A>C (p.Glu498Asp)
c.*774A>C (n.*774A>C)
c.1602A>C (p.Glu534Asp)
c.924A>C (p.Glu308Asp)
c.1509A>C (p.Glu503Asp)
c.1378A>C (n.1378A>C)
c.186A>C (p.Glu62Asp)
c.759A>C (p.Glu253Asp)
c.1437A>C (p.Glu479Asp)
c.1560A>C (p.Glu520Asp)
c.834A>C (p.Glu278Asp)
c.1440A>C (p.Glu480Asp)
n.2423+2654T>G
n.1799A>C
10g.18539415A>GCA468628264CACNB2,NSUN6c.1530A>G (p.Glu510=)
c.1395A>G (p.Glu465=)
c.1518A>G (p.Glu506=)
c.1590A>G (p.Glu530=)
c.1674A>G (p.Glu558=)
c.1512A>G (p.Glu504=)
c.1299A>G (p.Glu433=)
c.1476A>G (p.Glu492=)
c.*815A>G (n.*815A>G)
c.1416A>G (p.Glu472=)
c.*948A>G (n.*948A>G)
c.1231A>G (n.1231A>G)
c.*913A>G (n.*913A>G)
c.1494A>G (p.Glu498=)
c.*774A>G (n.*774A>G)
c.1602A>G (p.Glu534=)
c.924A>G (p.Glu308=)
c.1509A>G (p.Glu503=)
c.1378A>G (n.1378A>G)
c.186A>G (p.Glu62=)
c.759A>G (p.Glu253=)
c.1437A>G (p.Glu479=)
c.1560A>G (p.Glu520=)
c.834A>G (p.Glu278=)
c.1440A>G (p.Glu480=)
n.2423+2654T>C
n.1799A>G
10g.18539415A>TCA376071706CACNB2,NSUN6c.1530A>T (p.Glu510Asp)
c.1395A>T (p.Glu465Asp)
c.1518A>T (p.Glu506Asp)
c.1590A>T (p.Glu530Asp)
c.1674A>T (p.Glu558Asp)
c.1512A>T (p.Glu504Asp)
c.1299A>T (p.Glu433Asp)
c.1476A>T (p.Glu492Asp)
c.*815A>T (n.*815A>T)
c.1416A>T (p.Glu472Asp)
c.*948A>T (n.*948A>T)
c.1231A>T (n.1231A>T)
c.*913A>T (n.*913A>T)
c.1494A>T (p.Glu498Asp)
c.*774A>T (n.*774A>T)
c.1602A>T (p.Glu534Asp)
c.924A>T (p.Glu308Asp)
c.1509A>T (p.Glu503Asp)
c.1378A>T (n.1378A>T)
c.186A>T (p.Glu62Asp)
c.759A>T (p.Glu253Asp)
c.1437A>T (p.Glu479Asp)
c.1560A>T (p.Glu520Asp)
c.834A>T (p.Glu278Asp)
c.1440A>T (p.Glu480Asp)
n.2423+2654T>A
n.1799A>T
10g.18539416A>CCA376071708CACNB2,NSUN6c.1531A>C (p.Thr511Pro)
c.1396A>C (p.Thr466Pro)
c.1519A>C (p.Thr507Pro)
c.1591A>C (p.Thr531Pro)
c.1675A>C (p.Thr559Pro)
c.1513A>C (p.Thr505Pro)
c.1300A>C (p.Thr434Pro)
c.1477A>C (p.Thr493Pro)
c.*816A>C (n.*816A>C)
c.1417A>C (p.Thr473Pro)
c.*949A>C (n.*949A>C)
c.1232A>C (n.1232A>C)
c.*914A>C (n.*914A>C)
c.1495A>C (p.Thr499Pro)
c.*775A>C (n.*775A>C)
c.1603A>C (p.Thr535Pro)
c.925A>C (p.Thr309Pro)
c.1510A>C (p.Thr504Pro)
c.1379A>C (n.1379A>C)
c.187A>C (p.Thr63Pro)
c.760A>C (p.Thr254Pro)
c.1438A>C (p.Thr480Pro)
c.1561A>C (p.Thr521Pro)
c.835A>C (p.Thr279Pro)
c.1441A>C (p.Thr481Pro)
n.2423+2653T>G
n.1800A>C
10g.18539416A>GCA376071709CACNB2,NSUN6c.1531A>G (p.Thr511Ala)
c.1396A>G (p.Thr466Ala)
c.1519A>G (p.Thr507Ala)
c.1591A>G (p.Thr531Ala)
c.1675A>G (p.Thr559Ala)
c.1513A>G (p.Thr505Ala)
c.1300A>G (p.Thr434Ala)
c.1477A>G (p.Thr493Ala)
c.*816A>G (n.*816A>G)
c.1417A>G (p.Thr473Ala)
c.*949A>G (n.*949A>G)
c.1232A>G (n.1232A>G)
c.*914A>G (n.*914A>G)
c.1495A>G (p.Thr499Ala)
c.*775A>G (n.*775A>G)
c.1603A>G (p.Thr535Ala)
c.925A>G (p.Thr309Ala)
c.1510A>G (p.Thr504Ala)
c.1379A>G (n.1379A>G)
c.187A>G (p.Thr63Ala)
c.760A>G (p.Thr254Ala)
c.1438A>G (p.Thr480Ala)
c.1561A>G (p.Thr521Ala)
c.835A>G (p.Thr279Ala)
c.1441A>G (p.Thr481Ala)
n.2423+2653T>C
n.1800A>G
10g.18539416A>TCA376071711CACNB2,NSUN6c.1531A>T (p.Thr511Ser)
c.1396A>T (p.Thr466Ser)
c.1519A>T (p.Thr507Ser)
c.1591A>T (p.Thr531Ser)
c.1675A>T (p.Thr559Ser)
c.1513A>T (p.Thr505Ser)
c.1300A>T (p.Thr434Ser)
c.1477A>T (p.Thr493Ser)
c.*816A>T (n.*816A>T)
c.1417A>T (p.Thr473Ser)
c.*949A>T (n.*949A>T)
c.1232A>T (n.1232A>T)
c.*914A>T (n.*914A>T)
c.1495A>T (p.Thr499Ser)
c.*775A>T (n.*775A>T)
c.1603A>T (p.Thr535Ser)
c.925A>T (p.Thr309Ser)
c.1510A>T (p.Thr504Ser)
c.1379A>T (n.1379A>T)
c.187A>T (p.Thr63Ser)
c.760A>T (p.Thr254Ser)
c.1438A>T (p.Thr480Ser)
c.1561A>T (p.Thr521Ser)
c.835A>T (p.Thr279Ser)
c.1441A>T (p.Thr481Ser)
n.2423+2653T>A
n.1800A>T
10g.18539417C>ACA376071713CACNB2,NSUN6c.1532C>A (p.Thr511Asn)
c.1397C>A (p.Thr466Asn)
c.1520C>A (p.Thr507Asn)
c.1592C>A (p.Thr531Asn)
c.1676C>A (p.Thr559Asn)
c.1514C>A (p.Thr505Asn)
c.1301C>A (p.Thr434Asn)
c.1478C>A (p.Thr493Asn)
c.*817C>A (n.*817C>A)
c.1418C>A (p.Thr473Asn)
c.*950C>A (n.*950C>A)
c.1233C>A (n.1233C>A)
c.*915C>A (n.*915C>A)
c.1496C>A (p.Thr499Asn)
c.*776C>A (n.*776C>A)
c.1604C>A (p.Thr535Asn)
c.926C>A (p.Thr309Asn)
c.1511C>A (p.Thr504Asn)
c.1380C>A (n.1380C>A)
c.188C>A (p.Thr63Asn)
c.761C>A (p.Thr254Asn)
c.1439C>A (p.Thr480Asn)
c.1562C>A (p.Thr521Asn)
c.836C>A (p.Thr279Asn)
c.1442C>A (p.Thr481Asn)
n.2423+2652G>T
n.1801C>A
10g.18539417C>GCA376071715CACNB2,NSUN6c.1532C>G (p.Thr511Ser)
c.1397C>G (p.Thr466Ser)
c.1520C>G (p.Thr507Ser)
c.1592C>G (p.Thr531Ser)
c.1676C>G (p.Thr559Ser)
c.1514C>G (p.Thr505Ser)
c.1301C>G (p.Thr434Ser)
c.1478C>G (p.Thr493Ser)
c.*817C>G (n.*817C>G)
c.1418C>G (p.Thr473Ser)
c.*950C>G (n.*950C>G)
c.1233C>G (n.1233C>G)
c.*915C>G (n.*915C>G)
c.1496C>G (p.Thr499Ser)
c.*776C>G (n.*776C>G)
c.1604C>G (p.Thr535Ser)
c.926C>G (p.Thr309Ser)
c.1511C>G (p.Thr504Ser)
c.1380C>G (n.1380C>G)
c.188C>G (p.Thr63Ser)
c.761C>G (p.Thr254Ser)
c.1439C>G (p.Thr480Ser)
c.1562C>G (p.Thr521Ser)
c.836C>G (p.Thr279Ser)
c.1442C>G (p.Thr481Ser)
n.2423+2652G>C
n.1801C>G
10g.18539417C>TCA376071716CACNB2,NSUN6c.1532C>T (p.Thr511Ile)
c.1397C>T (p.Thr466Ile)
c.1520C>T (p.Thr507Ile)
c.1592C>T (p.Thr531Ile)
c.1676C>T (p.Thr559Ile)
c.1514C>T (p.Thr505Ile)
c.1301C>T (p.Thr434Ile)
c.1478C>T (p.Thr493Ile)
c.*817C>T (n.*817C>T)
c.1418C>T (p.Thr473Ile)
c.*950C>T (n.*950C>T)
c.1233C>T (n.1233C>T)
c.*915C>T (n.*915C>T)
c.1496C>T (p.Thr499Ile)
c.*776C>T (n.*776C>T)
c.1604C>T (p.Thr535Ile)
c.926C>T (p.Thr309Ile)
c.1511C>T (p.Thr504Ile)
c.1380C>T (n.1380C>T)
c.188C>T (p.Thr63Ile)
c.761C>T (p.Thr254Ile)
c.1439C>T (p.Thr480Ile)
c.1562C>T (p.Thr521Ile)
c.836C>T (p.Thr279Ile)
c.1442C>T (p.Thr481Ile)
n.2423+2652G>A
n.1801C>T
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

Number of alleles fetched