| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89920138G>C | CA123861 | MC1R | c.880G>C (p.Asp294His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89920138G>A | CA8255792 | MC1R | c.880G>A (p.Asp294Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89920138G= | CA2242009862 | MC1R | c.880G= (p.Asp294=) | dbSNP |
| 16 | g.89920138G>T | CA397463671 | MC1R | c.880G>T (p.Asp294Tyr) | ClinVar dbSNP |