| 基因名 | 突变 |
|---|---|
| MC3R(NM_019888,melanocortin 3 receptor,323aa) | g.20:54824029G>A,c.130G>A,p.V44I |
| MC3R(NM_019888,melanocortin 3 receptor,323aa) | g.20:54823993A>T,c.94A>T,p.S32C |
| MC2R(NM_000529,melanocortin 2 receptor (adrenocorticotropic hormone),297aa) | g.18:13885438G>C,c.80C>G,p.P27R |
| MC2R(NM_000529,melanocortin 2 receptor (adrenocorticotropic hormone),297aa) | g.18:13885249C>G,c.269G>C,p.G90A |
| MC2R(NM_000529,melanocortin 2 receptor (adrenocorticotropic hormone),297aa) | g.18:13884685A>C,c.833T>G,p.F278C |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986583G>A,c.917G>A,p.R306H |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986546G>C,c.880G>C,p.D294H |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986502A>G,c.836A>G,p.N279S |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986498A>G,c.832A>G,p.K278E |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986472A>G,c.806A>G,p.E269G |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986453C>T,c.787C>T,p.L263F |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986330G>A,c.664G>A,p.A222T |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986303C>T,c.637C>T,p.R213W |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986181G>T,c.515G>T,p.S172I |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986163C>G,c.497C>G,p.A166G |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986154G>A,c.488G>A,p.R163Q |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986144C>T,c.478C>T,p.R160W |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986136C>T,c.470C>T,p.T157I |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986130T>C,c.464T>C,p.I155T |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986122C>A,c.456C>A,p.Y152X |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986117C>T,c.451C>T,p.R151C |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986091G>A,c.425G>A,p.R142H |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986030G>A,c.364G>A,p.V122M |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89986025T>C,c.359T>C,p.I120T |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89985976G>A,c.310G>A,p.G104S |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89985950C>T,c.284C>T,p.T95M |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89985940G>A,c.274G>A,p.V92M |
| MC1R(NM_002386,melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor),317aa) | g.16:89985931G>A,c.265G>A,p.G89R |