| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.30969879G>T | CA4208485 | GHRHR | c.281G>T (p.Arg94Leu) c.89G>T (p.Arg30Leu) c.-267G>T (n.-267G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.30969879G>A | CA174022 | GHRHR | c.281G>A (p.Arg94Gln) c.89G>A (p.Arg30Gln) c.-267G>A (n.-267G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |