Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94382966C>T | CA127674 | SERPINA1 | c.272G>A (p.Gly91Glu) c.14G>A (p.Gly5Glu) | ClinVar dbSNP |
14 | g.94382966C>G | CA390850424 | SERPINA1 | c.272G>C (p.Gly91Ala) c.14G>C (p.Gly5Ala) | dbSNP |
14 | g.94382966C= | CA2155954866 | SERPINA1 | c.272G= (p.Gly91=) c.14G= (p.Gly5=) | dbSNP |