| 基因名 | 突变 |
|---|---|
| MLST8(NM_022372,MTOR associated protein, LST8 homolog (S. cerevisiae),326aa) | g.16:2258575G>A,c.823G>A,p.G275S |
| MLST8(NM_022372,MTOR associated protein, LST8 homolog (S. cerevisiae),326aa) | g.16:2258316C>T,c.679C>T,p.R227C |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238451259C>T,c.1496C>T,p.T499M |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238449505C>T,c.1351C>T,p.P451S |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238449117G>A,c.1231G>A,p.E411K |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238449108G>T,c.1222G>T,p.A408S |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238449007T>C,c.1121T>C,p.V374A |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238443226A>G,c.1040A>G,p.H347R |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238436112G>A,c.973G>A,p.A325T |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238434434C>T,c.866C>T,p.T289I |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238434379G>A,c.811G>A,p.G271S |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238427266C>T,c.530C>T,p.A177V |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238427251G>A,c.515G>A,p.G172D |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238427223G>A,c.487G>A,p.D163N |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238427215G>A,c.479G>A,p.G160E |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238427194T>C,c.458T>C,p.L153P |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419730G>A,c.431G>A,p.R144Q |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419729C>T,c.430C>T,p.R144W |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419714C>T,c.415C>T,p.R139W |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419321A>G,c.215A>G,p.Q72R |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419303G>A,c.197G>A,p.R66H |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238419272A>G,c.166A>G,p.T56A |
| MLPH(NM_024101,melanophilin,600aa) | g.2:238402091T>C,c.22T>C,p.S8P |
| MLNR(NM_001507,motilin receptor,412aa) | g.13:49795339G>T,c.866G>T,p.R289L |
| MLNR(NM_001507,motilin receptor,412aa) | g.13:49795272T>C,c.799T>C,p.Y267H |
| MLNR(NM_001507,motilin receptor,412aa) | g.13:49795243T>G,c.770T>G,p.F257C |
| MLNR(NM_001507,motilin receptor,412aa) | g.13:49795035G>A,c.562G>A,p.V188I |
| MLNR(NM_001507,motilin receptor,412aa) | g.13:49794963G>A,c.490G>A,p.A164T |