Chr Mutation (hg38) CAid Gene Transcript Linkouts
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>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.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=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=
 dbSNP

Number of alleles fetched