| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.920542C>T | CA130183 | KISS1R | c.991C>T (p.Arg331Ter) c.758C>T (n.758C>T) c.*77C>T (n.*77C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.920542C>G | CA402917541 | KISS1R | c.991C>G (p.Arg331Gly) c.758C>G (n.758C>G) c.*77C>G (n.*77C>G) | ClinVar dbSNP gnomAD v4 |
| 19 | g.920542C= | CA2317408365 | KISS1R | c.991C= (p.Arg331=) c.758C= (n.758C=) c.*77C= (n.*77C=) | dbSNP |