| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21852457G>A | CA325662 | ABCC9 | c.2554C>T (p.Gln852Ter) n.131C>T c.*1652C>T (n.*1652C>T) n.2055C>T c.2506-3C>T (n.2506-3C>T) c.1435C>T (p.Gln479Ter) c.2515C>T (p.Gln839Ter) c.2413C>T (p.Gln805Ter) c.1687C>T (p.Gln563Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21852457G= | CA2021298015 | ABCC9 | c.2554C= (p.Gln852=) n.131C= c.*1652C= (n.*1652C=) n.2055C= c.2506-3C= (n.2506-3C=) c.1435C= (p.Gln479=) c.2515C= (p.Gln839=) c.2413C= (p.Gln805=) c.1687C= (p.Gln563=) | dbSNP |
| 12 | g.21852457G>C | CA384125653 | ABCC9 | c.2554C>G (p.Gln852Glu) n.131C>G c.*1652C>G (n.*1652C>G) n.2055C>G c.2506-3C>G (n.2506-3C>G) c.1435C>G (p.Gln479Glu) c.2515C>G (p.Gln839Glu) c.2413C>G (p.Gln805Glu) c.1687C>G (p.Gln563Glu) | dbSNP |