| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142877221T>G | CA339880 | CYP11B1,GML | c.397A>C (p.Asn133His) n.430A>C c.610A>C (p.Asn204His) c.181+35996T>G (n.181+35996T>G) c.475A>C (p.Asn159His) c.214A>C (p.Asn72His) c.214+35996T>G (n.214+35996T>G) | ClinVar dbSNP |
| 8 | g.142877221T>C | CA4905449 | CYP11B1,GML | c.397A>G (p.Asn133Asp) n.430A>G c.610A>G (p.Asn204Asp) c.181+35996T>C (n.181+35996T>C) c.475A>G (p.Asn159Asp) c.214A>G (p.Asn72Asp) c.214+35996T>C (n.214+35996T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |