Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619305C>T | CA7329879 | SERPINA3 | c.754C>T (p.Pro252Ser) c.100C>T (p.Pro34Ser) c.1717C>T n.58-3036C>T c.644-3036C>T (n.644-3036C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619305C>G | CA127757 | SERPINA3 | c.754C>G (p.Pro252Ala) c.100C>G (p.Pro34Ala) c.1717C>G n.58-3036C>G c.644-3036C>G (n.644-3036C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |