Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.2549941A>C	CA383368096	CACNA1C	c.810-2A>C (n.810-2A>C) c.1466-2A>C (n.1466-2A>C) c.1391-2A>C (n.1391-2A>C) c.278-2A>C (n.278-2A>C) c.1481-2A>C (n.1481-2A>C) c.1382-2A>C (n.1382-2A>C) c.1556-2A>C (n.1556-2A>C) c.1114-2A>C (n.1114-2A>C) c.1011-2A>C (n.1011-2A>C) n.278-2A>C c.914-2A>C (n.914-2A>C) c.431-2A>C (n.431-2A>C) c.-5-2A>C (n.-5-2A>C) c.1634-2A>C (n.1634-2A>C) c.1559-2A>C (n.1559-2A>C) c.1550-2A>C (n.1550-2A>C)	gnomAD v4
12	g.2549941A>G	CA383368097	CACNA1C	c.810-2A>G (n.810-2A>G) c.1466-2A>G (n.1466-2A>G) c.1391-2A>G (n.1391-2A>G) c.278-2A>G (n.278-2A>G) c.1481-2A>G (n.1481-2A>G) c.1382-2A>G (n.1382-2A>G) c.1556-2A>G (n.1556-2A>G) c.1114-2A>G (n.1114-2A>G) c.1011-2A>G (n.1011-2A>G) n.278-2A>G c.914-2A>G (n.914-2A>G) c.431-2A>G (n.431-2A>G) c.-5-2A>G (n.-5-2A>G) c.1634-2A>G (n.1634-2A>G) c.1559-2A>G (n.1559-2A>G) c.1550-2A>G (n.1550-2A>G)	gnomAD v4
12	g.2549941A>T	CA383368098	CACNA1C	c.810-2A>T (n.810-2A>T) c.1466-2A>T (n.1466-2A>T) c.1391-2A>T (n.1391-2A>T) c.278-2A>T (n.278-2A>T) c.1481-2A>T (n.1481-2A>T) c.1382-2A>T (n.1382-2A>T) c.1556-2A>T (n.1556-2A>T) c.1114-2A>T (n.1114-2A>T) c.1011-2A>T (n.1011-2A>T) n.278-2A>T c.914-2A>T (n.914-2A>T) c.431-2A>T (n.431-2A>T) c.-5-2A>T (n.-5-2A>T) c.1634-2A>T (n.1634-2A>T) c.1559-2A>T (n.1559-2A>T) c.1550-2A>T (n.1550-2A>T)
12	g.2549942G>A	CA383368099	CACNA1C	c.810-1G>A (n.810-1G>A) c.1466-1G>A (n.1466-1G>A) c.1391-1G>A (n.1391-1G>A) c.278-1G>A (n.278-1G>A) c.1481-1G>A (n.1481-1G>A) c.1382-1G>A (n.1382-1G>A) c.1556-1G>A (n.1556-1G>A) c.1114-1G>A (n.1114-1G>A) c.1011-1G>A (n.1011-1G>A) n.278-1G>A c.914-1G>A (n.914-1G>A) c.431-1G>A (n.431-1G>A) c.-5-1G>A (n.-5-1G>A) c.1634-1G>A (n.1634-1G>A) c.1559-1G>A (n.1559-1G>A) c.1550-1G>A (n.1550-1G>A)	gnomAD v4
12	g.2549942G>C	CA383368100	CACNA1C	c.810-1G>C (n.810-1G>C) c.1466-1G>C (n.1466-1G>C) c.1391-1G>C (n.1391-1G>C) c.278-1G>C (n.278-1G>C) c.1481-1G>C (n.1481-1G>C) c.1382-1G>C (n.1382-1G>C) c.1556-1G>C (n.1556-1G>C) c.1114-1G>C (n.1114-1G>C) c.1011-1G>C (n.1011-1G>C) n.278-1G>C c.914-1G>C (n.914-1G>C) c.431-1G>C (n.431-1G>C) c.-5-1G>C (n.-5-1G>C) c.1634-1G>C (n.1634-1G>C) c.1559-1G>C (n.1559-1G>C) c.1550-1G>C (n.1550-1G>C)
12	g.2549942G>T	CA383368101	CACNA1C	c.810-1G>T (n.810-1G>T) c.1466-1G>T (n.1466-1G>T) c.1391-1G>T (n.1391-1G>T) c.278-1G>T (n.278-1G>T) c.1481-1G>T (n.1481-1G>T) c.1382-1G>T (n.1382-1G>T) c.1556-1G>T (n.1556-1G>T) c.1114-1G>T (n.1114-1G>T) c.1011-1G>T (n.1011-1G>T) n.278-1G>T c.914-1G>T (n.914-1G>T) c.431-1G>T (n.431-1G>T) c.-5-1G>T (n.-5-1G>T) c.1634-1G>T (n.1634-1G>T) c.1559-1G>T (n.1559-1G>T) c.1550-1G>T (n.1550-1G>T)
12	g.2549943T>A	CA383368102	CACNA1C	c.810T>A (n.810T>A) c.1466T>A (p.Val489Glu) c.1391T>A (p.Met464Lys) c.278T>A (p.Met93Lys) c.1481T>A (p.Met494Lys) c.1382T>A (p.Met461Lys) c.1556T>A (p.Val519Glu) c.1114T>A (p.Ter372Arg) c.1011T>A (n.1011T>A) n.278T>A c.914T>A (p.Met305Lys) c.431T>A (p.Val144Glu) c.-5T>A (n.-5T>A) c.1634T>A (p.Val545Glu) c.1559T>A (p.Met520Lys) c.1550T>A (p.Met517Lys)
12	g.2549943T>C	CA383368104	CACNA1C	c.810T>C (n.810T>C) c.1466T>C (p.Val489Ala) c.1391T>C (p.Met464Thr) c.278T>C (p.Met93Thr) c.1481T>C (p.Met494Thr) c.1382T>C (p.Met461Thr) c.1556T>C (p.Val519Ala) c.1114T>C (p.Ter372Arg) c.1011T>C (n.1011T>C) n.278T>C c.914T>C (p.Met305Thr) c.431T>C (p.Val144Ala) c.-5T>C (n.-5T>C) c.1634T>C (p.Val545Ala) c.1559T>C (p.Met520Thr) c.1550T>C (p.Met517Thr)	gnomAD v4
12	g.2549943T>G	CA383368103	CACNA1C	c.810T>G (n.810T>G) c.1466T>G (p.Val489Gly) c.1391T>G (p.Met464Arg) c.278T>G (p.Met93Arg) c.1481T>G (p.Met494Arg) c.1382T>G (p.Met461Arg) c.1556T>G (p.Val519Gly) c.1114T>G (p.Ter372Gly) c.1011T>G (n.1011T>G) n.278T>G c.914T>G (p.Met305Arg) c.431T>G (p.Val144Gly) c.-5T>G (n.-5T>G) c.1634T>G (p.Val545Gly) c.1559T>G (p.Met520Arg) c.1550T>G (p.Met517Arg)
12	g.2549944G>A	CA383368105	CACNA1C	c.811G>A (n.811G>A) c.1467G>A (p.Val489=) c.1392G>A (p.Met464Ile) c.279G>A (p.Met93Ile) c.1482G>A (p.Met494Ile) c.1383G>A (p.Met461Ile) c.1557G>A (p.Val519=) c.1115G>A (p.Ter372=) c.1012G>A (n.1012G>A) n.279G>A c.915G>A (p.Met305Ile) c.432G>A (p.Val144=) c.-4G>A (n.-4G>A) c.1635G>A (p.Val545=) c.1560G>A (p.Met520Ile) c.1551G>A (p.Met517Ile)
12	g.2549944G>C	CA383368106	CACNA1C	c.811G>C (n.811G>C) c.1467G>C (p.Val489=) c.1392G>C (p.Met464Ile) c.279G>C (p.Met93Ile) c.1482G>C (p.Met494Ile) c.1383G>C (p.Met461Ile) c.1557G>C (p.Val519=) c.1115G>C (p.Ter372Ser) c.1012G>C (n.1012G>C) n.279G>C c.915G>C (p.Met305Ile) c.432G>C (p.Val144=) c.-4G>C (n.-4G>C) c.1635G>C (p.Val545=) c.1560G>C (p.Met520Ile) c.1551G>C (p.Met517Ile)
12	g.2549944G>T	CA383368107	CACNA1C	c.811G>T (n.811G>T) c.1467G>T (p.Val489=) c.1392G>T (p.Met464Ile) c.279G>T (p.Met93Ile) c.1482G>T (p.Met494Ile) c.1383G>T (p.Met461Ile) c.1557G>T (p.Val519=) c.1115G>T (p.Ter372Leu) c.1012G>T (n.1012G>T) n.279G>T c.915G>T (p.Met305Ile) c.432G>T (p.Val144=) c.-4G>T (n.-4G>T) c.1635G>T (p.Val545=) c.1560G>T (p.Met520Ile) c.1551G>T (p.Met517Ile)	gnomAD v4
12	g.2549945A>C	CA383368108	CACNA1C	c.812A>C (n.812A>C) c.1468A>C (p.Ser490Arg) c.1393A>C (p.Ser465Arg) c.280A>C (p.Ser94Arg) c.1483A>C (p.Ser495Arg) c.1384A>C (p.Ser462Arg) c.1558A>C (p.Ser520Arg) c.1116A>C (p.Ter372Cys) c.1013A>C (n.1013A>C) n.280A>C c.916A>C (p.Ser306Arg) c.433A>C (p.Ser145Arg) c.-3A>C (n.-3A>C) c.1636A>C (p.Ser546Arg) c.1561A>C (p.Ser521Arg) c.1552A>C (p.Ser518Arg)
12	g.2549945A>G	CA383368109	CACNA1C	c.812A>G (n.812A>G) c.1468A>G (p.Ser490Gly) c.1393A>G (p.Ser465Gly) c.280A>G (p.Ser94Gly) c.1483A>G (p.Ser495Gly) c.1384A>G (p.Ser462Gly) c.1558A>G (p.Ser520Gly) c.1116A>G (p.Ter372Trp) c.1013A>G (n.1013A>G) n.280A>G c.916A>G (p.Ser306Gly) c.433A>G (p.Ser145Gly) c.-3A>G (n.-3A>G) c.1636A>G (p.Ser546Gly) c.1561A>G (p.Ser521Gly) c.1552A>G (p.Ser518Gly)	dbSNP
12	g.2549945A>T	CA383368110	CACNA1C	c.812A>T (n.812A>T) c.1468A>T (p.Ser490Cys) c.1393A>T (p.Ser465Cys) c.280A>T (p.Ser94Cys) c.1483A>T (p.Ser495Cys) c.1384A>T (p.Ser462Cys) c.1558A>T (p.Ser520Cys) c.1116A>T (p.Ter372Cys) c.1013A>T (n.1013A>T) n.280A>T c.916A>T (p.Ser306Cys) c.433A>T (p.Ser145Cys) c.-3A>T (n.-3A>T) c.1636A>T (p.Ser546Cys) c.1561A>T (p.Ser521Cys) c.1552A>T (p.Ser518Cys)
12	g.2549946G>A	CA383368111	CACNA1C	c.813G>A (n.813G>A) c.1469G>A (p.Ser490Asn) c.1394G>A (p.Ser465Asn) c.281G>A (p.Ser94Asn) c.1484G>A (p.Ser495Asn) c.1385G>A (p.Ser462Asn) c.1559G>A (p.Ser520Asn) c.1G>A (n.1G>A) c.1014G>A (n.1014G>A) n.281G>A c.917G>A (p.Ser306Asn) c.434G>A (p.Ser145Asn) c.-2G>A (n.-2G>A) c.1637G>A (p.Ser546Asn) c.1562G>A (p.Ser521Asn) c.1553G>A (p.Ser518Asn)	ClinVar gnomAD v4
12	g.2549946G>C	CA383368112	CACNA1C	c.813G>C (n.813G>C) c.1469G>C (p.Ser490Thr) c.1394G>C (p.Ser465Thr) c.281G>C (p.Ser94Thr) c.1484G>C (p.Ser495Thr) c.1385G>C (p.Ser462Thr) c.1559G>C (p.Ser520Thr) c.1G>C (n.1G>C) c.1014G>C (n.1014G>C) n.281G>C c.917G>C (p.Ser306Thr) c.434G>C (p.Ser145Thr) c.-2G>C (n.-2G>C) c.1637G>C (p.Ser546Thr) c.1562G>C (p.Ser521Thr) c.1553G>C (p.Ser518Thr)
12	g.2549946G>T	CA383368113	CACNA1C	c.813G>T (n.813G>T) c.1469G>T (p.Ser490Ile) c.1394G>T (p.Ser465Ile) c.281G>T (p.Ser94Ile) c.1484G>T (p.Ser495Ile) c.1385G>T (p.Ser462Ile) c.1559G>T (p.Ser520Ile) c.1G>T (n.1G>T) c.1014G>T (n.1014G>T) n.281G>T c.917G>T (p.Ser306Ile) c.434G>T (p.Ser145Ile) c.-2G>T (n.-2G>T) c.1637G>T (p.Ser546Ile) c.1562G>T (p.Ser521Ile) c.1553G>T (p.Ser518Ile)	gnomAD v4
12	g.2549947C>A	CA383368114	CACNA1C	c.814C>A (n.814C>A) c.1470C>A (p.Ser490Arg) c.1395C>A (p.Ser465Arg) c.282C>A (p.Ser94Arg) c.1485C>A (p.Ser495Arg) c.1386C>A (p.Ser462Arg) c.1560C>A (p.Ser520Arg) c.2C>A (n.2C>A) c.1015C>A (n.1015C>A) n.282C>A c.918C>A (p.Ser306Arg) c.435C>A (p.Ser145Arg) c.-1C>A (n.-1C>A) c.1638C>A (p.Ser546Arg) c.1563C>A (p.Ser521Arg) c.1554C>A (p.Ser518Arg)	gnomAD v4
12	g.2549947C>G	CA383368115	CACNA1C	c.814C>G (n.814C>G) c.1470C>G (p.Ser490Arg) c.1395C>G (p.Ser465Arg) c.282C>G (p.Ser94Arg) c.1485C>G (p.Ser495Arg) c.1386C>G (p.Ser462Arg) c.1560C>G (p.Ser520Arg) c.2C>G (n.2C>G) c.1015C>G (n.1015C>G) n.282C>G c.918C>G (p.Ser306Arg) c.435C>G (p.Ser145Arg) c.-1C>G (n.-1C>G) c.1638C>G (p.Ser546Arg) c.1563C>G (p.Ser521Arg) c.1554C>G (p.Ser518Arg)
12	g.2549947C>T	CA231603988	CACNA1C	c.814C>T (n.814C>T) c.1470C>T (p.Ser490=) c.1395C>T (p.Ser465=) c.282C>T (p.Ser94=) c.1485C>T (p.Ser495=) c.1386C>T (p.Ser462=) c.1560C>T (p.Ser520=) c.2C>T (n.2C>T) c.1015C>T (n.1015C>T) n.282C>T c.918C>T (p.Ser306=) c.435C>T (p.Ser145=) c.-1C>T (n.-1C>T) c.1638C>T (p.Ser546=) c.1563C>T (p.Ser521=) c.1554C>T (p.Ser518=)	dbSNP gnomAD v4
12	g.2549948A>C	CA383368116	CACNA1C	c.815A>C (n.815A>C) c.1471A>C (p.Met491Leu) c.1396A>C (p.Met466Leu) c.283A>C (p.Met95Leu) c.1486A>C (p.Met496Leu) c.1387A>C (p.Met463Leu) c.1561A>C (p.Met521Leu) c.3A>C (n.3A>C) c.1016A>C (n.1016A>C) n.283A>C c.919A>C (p.Met307Leu) c.436A>C (p.Met146Leu) c.1A>C (p.Met1Leu) c.1639A>C (p.Met547Leu) c.1564A>C (p.Met522Leu) c.1555A>C (p.Met519Leu)
12	g.2549948A>G	CA383368118	CACNA1C	c.815A>G (n.815A>G) c.1471A>G (p.Met491Val) c.1396A>G (p.Met466Val) c.283A>G (p.Met95Val) c.1486A>G (p.Met496Val) c.1387A>G (p.Met463Val) c.1561A>G (p.Met521Val) c.3A>G (n.3A>G) c.1016A>G (n.1016A>G) n.283A>G c.919A>G (p.Met307Val) c.436A>G (p.Met146Val) c.1A>G (p.Met1Val) c.1639A>G (p.Met547Val) c.1564A>G (p.Met522Val) c.1555A>G (p.Met519Val)	ClinVar dbSNP
12	g.2549948A>T	CA383368117	CACNA1C	c.815A>T (n.815A>T) c.1471A>T (p.Met491Leu) c.1396A>T (p.Met466Leu) c.283A>T (p.Met95Leu) c.1486A>T (p.Met496Leu) c.1387A>T (p.Met463Leu) c.1561A>T (p.Met521Leu) c.3A>T (n.3A>T) c.1016A>T (n.1016A>T) n.283A>T c.919A>T (p.Met307Leu) c.436A>T (p.Met146Leu) c.1A>T (p.Met1Leu) c.1639A>T (p.Met547Leu) c.1564A>T (p.Met522Leu) c.1555A>T (p.Met519Leu)
12	g.2549949T>A	CA383368119	CACNA1C	c.816T>A (n.816T>A) c.1472T>A (p.Met491Lys) c.1397T>A (p.Met466Lys) c.284T>A (p.Met95Lys) c.1487T>A (p.Met496Lys) c.1388T>A (p.Met463Lys) c.1562T>A (p.Met521Lys) c.4T>A (n.4T>A) c.1017T>A (n.1017T>A) n.284T>A c.920T>A (p.Met307Lys) c.437T>A (p.Met146Lys) c.2T>A (p.Met1Lys) c.1640T>A (p.Met547Lys) c.1565T>A (p.Met522Lys) c.1556T>A (p.Met519Lys)
12	g.2549949T>C	CA6388726	CACNA1C	c.816T>C (n.816T>C) c.1472T>C (p.Met491Thr) c.1397T>C (p.Met466Thr) c.284T>C (p.Met95Thr) c.1487T>C (p.Met496Thr) c.1388T>C (p.Met463Thr) c.1562T>C (p.Met521Thr) c.4T>C (n.4T>C) c.1017T>C (n.1017T>C) n.284T>C c.920T>C (p.Met307Thr) c.437T>C (p.Met146Thr) c.2T>C (p.Met1Thr) c.1640T>C (p.Met547Thr) c.1565T>C (p.Met522Thr) c.1556T>C (p.Met519Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.2549949T>G	CA383368120	CACNA1C	c.816T>G (n.816T>G) c.1472T>G (p.Met491Arg) c.1397T>G (p.Met466Arg) c.284T>G (p.Met95Arg) c.1487T>G (p.Met496Arg) c.1388T>G (p.Met463Arg) c.1562T>G (p.Met521Arg) c.4T>G (n.4T>G) c.1017T>G (n.1017T>G) n.284T>G c.920T>G (p.Met307Arg) c.437T>G (p.Met146Arg) c.2T>G (p.Met1Arg) c.1640T>G (p.Met547Arg) c.1565T>G (p.Met522Arg) c.1556T>G (p.Met519Arg)
12	g.2549950G>A	CA383368121	CACNA1C	c.817G>A (n.817G>A) c.1473G>A (p.Met491Ile) c.1398G>A (p.Met466Ile) c.285G>A (p.Met95Ile) c.1488G>A (p.Met496Ile) c.1389G>A (p.Met463Ile) c.1563G>A (p.Met521Ile) c.5G>A (n.5G>A) c.1018G>A (n.1018G>A) n.285G>A c.921G>A (p.Met307Ile) c.438G>A (p.Met146Ile) c.3G>A (p.Met1Ile) c.1641G>A (p.Met547Ile) c.1566G>A (p.Met522Ile) c.1557G>A (p.Met519Ile)	gnomAD v4
12	g.2549950G>C	CA383368122	CACNA1C	c.817G>C (n.817G>C) c.1473G>C (p.Met491Ile) c.1398G>C (p.Met466Ile) c.285G>C (p.Met95Ile) c.1488G>C (p.Met496Ile) c.1389G>C (p.Met463Ile) c.1563G>C (p.Met521Ile) c.5G>C (n.5G>C) c.1018G>C (n.1018G>C) n.285G>C c.921G>C (p.Met307Ile) c.438G>C (p.Met146Ile) c.3G>C (p.Met1Ile) c.1641G>C (p.Met547Ile) c.1566G>C (p.Met522Ile) c.1557G>C (p.Met519Ile)
12	g.2549950G>T	CA383368123	CACNA1C	c.817G>T (n.817G>T) c.1473G>T (p.Met491Ile) c.1398G>T (p.Met466Ile) c.285G>T (p.Met95Ile) c.1488G>T (p.Met496Ile) c.1389G>T (p.Met463Ile) c.1563G>T (p.Met521Ile) c.5G>T (n.5G>T) c.1018G>T (n.1018G>T) n.285G>T c.921G>T (p.Met307Ile) c.438G>T (p.Met146Ile) c.3G>T (p.Met1Ile) c.1641G>T (p.Met547Ile) c.1566G>T (p.Met522Ile) c.1557G>T (p.Met519Ile)	gnomAD v4
12	g.2549951C>A	CA383368124	CACNA1C	c.818C>A (n.818C>A) c.1474C>A (p.Pro492Thr) c.1399C>A (p.Pro467Thr) c.286C>A (p.Pro96Thr) c.1489C>A (p.Pro497Thr) c.1390C>A (p.Pro464Thr) c.1564C>A (p.Pro522Thr) c.6C>A (n.6C>A) c.1019C>A (n.1019C>A) n.286C>A c.922C>A (p.Pro308Thr) c.439C>A (p.Pro147Thr) c.4C>A (p.Pro2Thr) c.1642C>A (p.Pro548Thr) c.1567C>A (p.Pro523Thr) c.1558C>A (p.Pro520Thr)	gnomAD v4
12	g.2549951C>G	CA383368125	CACNA1C	c.818C>G (n.818C>G) c.1474C>G (p.Pro492Ala) c.1399C>G (p.Pro467Ala) c.286C>G (p.Pro96Ala) c.1489C>G (p.Pro497Ala) c.1390C>G (p.Pro464Ala) c.1564C>G (p.Pro522Ala) c.6C>G (n.6C>G) c.1019C>G (n.1019C>G) n.286C>G c.922C>G (p.Pro308Ala) c.439C>G (p.Pro147Ala) c.4C>G (p.Pro2Ala) c.1642C>G (p.Pro548Ala) c.1567C>G (p.Pro523Ala) c.1558C>G (p.Pro520Ala)	gnomAD v4
12	g.2549951C>T	CA383368126	CACNA1C	c.818C>T (n.818C>T) c.1474C>T (p.Pro492Ser) c.1399C>T (p.Pro467Ser) c.286C>T (p.Pro96Ser) c.1489C>T (p.Pro497Ser) c.1390C>T (p.Pro464Ser) c.1564C>T (p.Pro522Ser) c.6C>T (n.6C>T) c.1019C>T (n.1019C>T) n.286C>T c.922C>T (p.Pro308Ser) c.439C>T (p.Pro147Ser) c.4C>T (p.Pro2Ser) c.1642C>T (p.Pro548Ser) c.1567C>T (p.Pro523Ser) c.1558C>T (p.Pro520Ser)	gnomAD v4
12	g.2549953del	CA2617063758	CACNA1C	c.820del (n.820del) c.1476del (p.Thr493ProfsTer?) c.1401del (p.Thr468ProfsTer?) c.288del (p.Thr97ProfsTer?) c.1491del (p.Thr498ProfsTer?) c.1392del (p.Thr465ProfsTer?) c.1566del (p.Thr523ProfsTer?) c.8del (n.8del) c.1021del (n.1021del) n.288del c.924del (p.Thr309ProfsTer?) c.441del (p.Thr148ProfsTer?) c.6del (p.Thr3ProfsTer?) c.1644del (p.Thr549ProfsTer?) c.1569del (p.Thr524ProfsTer?) c.1560del (p.Thr521ProfsTer?)	gnomAD v4
12	g.2549952C>A	CA383368127	CACNA1C	c.819C>A (n.819C>A) c.1475C>A (p.Pro492His) c.1400C>A (p.Pro467His) c.287C>A (p.Pro96His) c.1490C>A (p.Pro497His) c.1391C>A (p.Pro464His) c.1565C>A (p.Pro522His) c.7C>A (n.7C>A) c.1020C>A (n.1020C>A) n.287C>A c.923C>A (p.Pro308His) c.440C>A (p.Pro147His) c.5C>A (p.Pro2His) c.1643C>A (p.Pro548His) c.1568C>A (p.Pro523His) c.1559C>A (p.Pro520His)	gnomAD v4
12	g.2549952C>G	CA383368128	CACNA1C	c.819C>G (n.819C>G) c.1475C>G (p.Pro492Arg) c.1400C>G (p.Pro467Arg) c.287C>G (p.Pro96Arg) c.1490C>G (p.Pro497Arg) c.1391C>G (p.Pro464Arg) c.1565C>G (p.Pro522Arg) c.7C>G (n.7C>G) c.1020C>G (n.1020C>G) n.287C>G c.923C>G (p.Pro308Arg) c.440C>G (p.Pro147Arg) c.5C>G (p.Pro2Arg) c.1643C>G (p.Pro548Arg) c.1568C>G (p.Pro523Arg) c.1559C>G (p.Pro520Arg)
12	g.2549952C>T	CA383368129	CACNA1C	c.819C>T (n.819C>T) c.1475C>T (p.Pro492Leu) c.1400C>T (p.Pro467Leu) c.287C>T (p.Pro96Leu) c.1490C>T (p.Pro497Leu) c.1391C>T (p.Pro464Leu) c.1565C>T (p.Pro522Leu) c.7C>T (n.7C>T) c.1020C>T (n.1020C>T) n.287C>T c.923C>T (p.Pro308Leu) c.440C>T (p.Pro147Leu) c.5C>T (p.Pro2Leu) c.1643C>T (p.Pro548Leu) c.1568C>T (p.Pro523Leu) c.1559C>T (p.Pro520Leu)	dbSNP
12	g.2549953C>A	CA477881061	CACNA1C	c.820C>A (n.820C>A) c.1476C>A (p.Pro492=) c.1401C>A (p.Pro467=) c.288C>A (p.Pro96=) c.1491C>A (p.Pro497=) c.1392C>A (p.Pro464=) c.1566C>A (p.Pro522=) c.8C>A (n.8C>A) c.1021C>A (n.1021C>A) n.288C>A c.924C>A (p.Pro308=) c.441C>A (p.Pro147=) c.6C>A (p.Pro2=) c.1644C>A (p.Pro548=) c.1569C>A (p.Pro523=) c.1560C>A (p.Pro520=)	gnomAD v4
12	g.2549953C>G	CA477881059	CACNA1C	c.820C>G (n.820C>G) c.1476C>G (p.Pro492=) c.1401C>G (p.Pro467=) c.288C>G (p.Pro96=) c.1491C>G (p.Pro497=) c.1392C>G (p.Pro464=) c.1566C>G (p.Pro522=) c.8C>G (n.8C>G) c.1021C>G (n.1021C>G) n.288C>G c.924C>G (p.Pro308=) c.441C>G (p.Pro147=) c.6C>G (p.Pro2=) c.1644C>G (p.Pro548=) c.1569C>G (p.Pro523=) c.1560C>G (p.Pro520=)
12	g.2549953C>T	CA477881057	CACNA1C	c.820C>T (n.820C>T) c.1476C>T (p.Pro492=) c.1401C>T (p.Pro467=) c.288C>T (p.Pro96=) c.1491C>T (p.Pro497=) c.1392C>T (p.Pro464=) c.1566C>T (p.Pro522=) c.8C>T (n.8C>T) c.1021C>T (n.1021C>T) n.288C>T c.924C>T (p.Pro308=) c.441C>T (p.Pro147=) c.6C>T (p.Pro2=) c.1644C>T (p.Pro548=) c.1569C>T (p.Pro523=) c.1560C>T (p.Pro520=)
12	g.2549954A>C	CA383368132	CACNA1C	c.821A>C (n.821A>C) c.1477A>C (p.Thr493Pro) c.1402A>C (p.Thr468Pro) c.289A>C (p.Thr97Pro) c.1492A>C (p.Thr498Pro) c.1393A>C (p.Thr465Pro) c.1567A>C (p.Thr523Pro) c.9A>C (n.9A>C) c.1022A>C (n.1022A>C) n.289A>C c.925A>C (p.Thr309Pro) c.442A>C (p.Thr148Pro) c.7A>C (p.Thr3Pro) c.1645A>C (p.Thr549Pro) c.1570A>C (p.Thr524Pro) c.1561A>C (p.Thr521Pro)
12	g.2549954A>G	CA383368130	CACNA1C	c.821A>G (n.821A>G) c.1477A>G (p.Thr493Ala) c.1402A>G (p.Thr468Ala) c.289A>G (p.Thr97Ala) c.1492A>G (p.Thr498Ala) c.1393A>G (p.Thr465Ala) c.1567A>G (p.Thr523Ala) c.9A>G (n.9A>G) c.1022A>G (n.1022A>G) n.289A>G c.925A>G (p.Thr309Ala) c.442A>G (p.Thr148Ala) c.7A>G (p.Thr3Ala) c.1645A>G (p.Thr549Ala) c.1570A>G (p.Thr524Ala) c.1561A>G (p.Thr521Ala)
12	g.2549954A>T	CA383368131	CACNA1C	c.821A>T (n.821A>T) c.1477A>T (p.Thr493Ser) c.1402A>T (p.Thr468Ser) c.289A>T (p.Thr97Ser) c.1492A>T (p.Thr498Ser) c.1393A>T (p.Thr465Ser) c.1567A>T (p.Thr523Ser) c.9A>T (n.9A>T) c.1022A>T (n.1022A>T) n.289A>T c.925A>T (p.Thr309Ser) c.442A>T (p.Thr148Ser) c.7A>T (p.Thr3Ser) c.1645A>T (p.Thr549Ser) c.1570A>T (p.Thr524Ser) c.1561A>T (p.Thr521Ser)
12	g.2549955C>A	CA383368133	CACNA1C	c.822C>A (n.822C>A) c.1478C>A (p.Thr493Asn) c.1403C>A (p.Thr468Asn) c.290C>A (p.Thr97Asn) c.1493C>A (p.Thr498Asn) c.1394C>A (p.Thr465Asn) c.1568C>A (p.Thr523Asn) c.10C>A (n.10C>A) c.1023C>A (n.1023C>A) n.290C>A c.926C>A (p.Thr309Asn) c.443C>A (p.Thr148Asn) c.8C>A (p.Thr3Asn) c.1646C>A (p.Thr549Asn) c.1571C>A (p.Thr524Asn) c.1562C>A (p.Thr521Asn)	gnomAD v4
12	g.2549955C>G	CA383368134	CACNA1C	c.822C>G (n.822C>G) c.1478C>G (p.Thr493Ser) c.1403C>G (p.Thr468Ser) c.290C>G (p.Thr97Ser) c.1493C>G (p.Thr498Ser) c.1394C>G (p.Thr465Ser) c.1568C>G (p.Thr523Ser) c.10C>G (n.10C>G) c.1023C>G (n.1023C>G) n.290C>G c.926C>G (p.Thr309Ser) c.443C>G (p.Thr148Ser) c.8C>G (p.Thr3Ser) c.1646C>G (p.Thr549Ser) c.1571C>G (p.Thr524Ser) c.1562C>G (p.Thr521Ser)
12	g.2549955C>T	CA383368135	CACNA1C	c.822C>T (n.822C>T) c.1478C>T (p.Thr493Ile) c.1403C>T (p.Thr468Ile) c.290C>T (p.Thr97Ile) c.1493C>T (p.Thr498Ile) c.1394C>T (p.Thr465Ile) c.1568C>T (p.Thr523Ile) c.10C>T (n.10C>T) c.1023C>T (n.1023C>T) n.290C>T c.926C>T (p.Thr309Ile) c.443C>T (p.Thr148Ile) c.8C>T (p.Thr3Ile) c.1646C>T (p.Thr549Ile) c.1571C>T (p.Thr524Ile) c.1562C>T (p.Thr521Ile)	gnomAD v4
12	g.2549956C>A	CA477881071	CACNA1C	c.823C>A (n.823C>A) c.1479C>A (p.Thr493=) c.1404C>A (p.Thr468=) c.291C>A (p.Thr97=) c.1494C>A (p.Thr498=) c.1395C>A (p.Thr465=) c.1569C>A (p.Thr523=) c.11C>A (n.11C>A) c.1024C>A (n.1024C>A) n.291C>A c.927C>A (p.Thr309=) c.444C>A (p.Thr148=) c.9C>A (p.Thr3=) c.1647C>A (p.Thr549=) c.1572C>A (p.Thr524=) c.1563C>A (p.Thr521=)	gnomAD v4
12	g.2549956C>G	CA477881072	CACNA1C	c.823C>G (n.823C>G) c.1479C>G (p.Thr493=) c.1404C>G (p.Thr468=) c.291C>G (p.Thr97=) c.1494C>G (p.Thr498=) c.1395C>G (p.Thr465=) c.1569C>G (p.Thr523=) c.11C>G (n.11C>G) c.1024C>G (n.1024C>G) n.291C>G c.927C>G (p.Thr309=) c.444C>G (p.Thr148=) c.9C>G (p.Thr3=) c.1647C>G (p.Thr549=) c.1572C>G (p.Thr524=) c.1563C>G (p.Thr521=)
12	g.2549956C>T	CA477881069	CACNA1C	c.823C>T (n.823C>T) c.1479C>T (p.Thr493=) c.1404C>T (p.Thr468=) c.291C>T (p.Thr97=) c.1494C>T (p.Thr498=) c.1395C>T (p.Thr465=) c.1569C>T (p.Thr523=) c.11C>T (n.11C>T) c.1024C>T (n.1024C>T) n.291C>T c.927C>T (p.Thr309=) c.444C>T (p.Thr148=) c.9C>T (p.Thr3=) c.1647C>T (p.Thr549=) c.1572C>T (p.Thr524=) c.1563C>T (p.Thr521=)	gnomAD v4
12	g.2549957A>C	CA383368136	CACNA1C	c.824A>C (n.824A>C) c.1480A>C (p.Ser494Arg) c.1405A>C (p.Ser469Arg) c.292A>C (p.Ser98Arg) c.1495A>C (p.Ser499Arg) c.1396A>C (p.Ser466Arg) c.1570A>C (p.Ser524Arg) c.12A>C (n.12A>C) c.1025A>C (n.1025A>C) n.292A>C c.928A>C (p.Ser310Arg) c.445A>C (p.Ser149Arg) c.10A>C (p.Ser4Arg) c.1648A>C (p.Ser550Arg) c.1573A>C (p.Ser525Arg) c.1564A>C (p.Ser522Arg)

Number of alleles fetched