| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.67740508G>A | CA130214 | GNRHR | c.959C>T (p.Pro320Leu) c.831C>T (n.831C>T) c.*81C>T (n.*81C>T) | ClinVar dbSNP |
| 4 | g.67740508G= | CA1465409022 | GNRHR | c.959C= (p.Pro320=) c.831C= (n.831C=) c.*81C= (n.*81C=) | dbSNP |
| 4 | g.67740508G>T | CA357047192 | GNRHR | c.959C>A (p.Pro320Gln) c.831C>A (n.831C>A) c.*81C>A (n.*81C>A) | dbSNP gnomAD v4 |