| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.124500523C>G | CA5235469 | NR5A1 | c.437G>C (p.Gly146Ala) c.40-251G>C (n.40-251G>C) c.176G>C (p.Gly59Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.124500523C>A | CA374887846 | NR5A1 | c.437G>T (p.Gly146Val) c.40-251G>T (n.40-251G>T) c.176G>T (p.Gly59Val) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.124500523C= | CA1878469186 | NR5A1 | c.437G= (p.Gly146=) c.40-251G= (n.40-251G=) c.176G= (p.Gly59=) | dbSNP |
| 9 | g.124500523C>T | CA374887853 | NR5A1 | c.437G>A (p.Gly146Glu) c.40-251G>A (n.40-251G>A) c.176G>A (p.Gly59Glu) | dbSNP gnomAD v4 |