| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142876242G>C | CA372395017 | CYP11B1,GML | c.953C>G (p.Thr318Arg) n.986C>G c.1166C>G (p.Thr389Arg) c.181+35017G>C (n.181+35017G>C) c.1031C>G (p.Thr344Arg) c.770C>G (p.Thr257Arg) c.214+35017G>C (n.214+35017G>C) | ClinVar dbSNP gnomAD v4 |
| 8 | g.142876242G>T | CA372395018 | CYP11B1,GML | c.953C>A (p.Thr318Lys) n.986C>A c.1166C>A (p.Thr389Lys) c.181+35017G>T (n.181+35017G>T) c.1031C>A (p.Thr344Lys) c.770C>A (p.Thr257Lys) c.214+35017G>T (n.214+35017G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142876242G>A | CA339876 | CYP11B1,GML | c.953C>T (p.Thr318Met) n.986C>T c.1166C>T (p.Thr389Met) c.181+35017G>A (n.181+35017G>A) c.1031C>T (p.Thr344Met) c.770C>T (p.Thr257Met) c.214+35017G>A (n.214+35017G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |