| 基因名 | 突变 |
|---|---|
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75276176G>C,c.4615G>C,p.V1539L |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75269378C>T,c.4520C>T,p.P1507L |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75269296G>A,c.4438G>A,p.G1480R |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75266271A>G,c.4271A>G,p.H1424R |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75266151G>A,c.4151G>A,p.R1384Q |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75266121G>A,c.4121G>A,p.R1374Q |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75265744C>G,c.3744C>G,p.F1248L |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75265343C>T,c.3343C>T,p.R1115W |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75265340C>G,c.3340C>G,p.P1114A |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75265172C>T,c.3172C>T,p.R1058W |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75264684C>T,c.2684C>T,p.A895V |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75264404G>A,c.2404G>A,p.A802T |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75248709T>A,c.1963T>A,p.S655T |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75248652C>G,c.1906C>G,p.P636A |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75248053T>C,c.1307T>C,p.M436T |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75230967A>G,c.775A>G,p.T259A |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75230953C>T,c.761C>T,p.P254L |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75230952C>A,c.760C>A,p.P254T |
| YLPM1(NM_019589,YLP motif containing 1,2146aa) | g.14:75230662A>G,c.470A>G,p.Y157C |
| YKT6(NM_006555,YKT6 v-SNARE homolog (S. cerevisiae),198aa) | g.7:44245987A>G,c.191A>G,p.Y64C |
| YKT6(NM_006555,YKT6 v-SNARE homolog (S. cerevisiae),198aa) | g.7:44244217C>T,c.155C>T,p.S52L |
| YKT6(NM_006555,YKT6 v-SNARE homolog (S. cerevisiae),198aa) | g.7:44244180A>T,c.118A>T,p.M40L |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19648234C>G,c.801C>G,p.H267Q |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19646441C>G,c.647C>G,p.T216R |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19646432C>T,c.638C>T,p.A213V |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19646431G>A,c.637G>A,p.A213T |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19646392G>A,c.598G>A,p.G200S |
| YJEFN3(NM_198537,YjeF N-terminal domain containing 3,299aa) | g.19:19646197C>T,c.481C>T,p.R161W |