| 基因名 | 突变 |
|---|---|
| FAM89A(NM_198552,family with sequence similarity 89, member A,184aa) | g.1:231155784G>C,c.380C>G,p.A127G |
| FAM89A(NM_198552,family with sequence similarity 89, member A,184aa) | g.1:231155737C>T,c.427G>A,p.D143N |
| FAM89A(NM_198552,family with sequence similarity 89, member A,184aa) | g.1:231155682C>T,c.482G>A,p.R161Q |
| FAM89A(NM_198552,family with sequence similarity 89, member A,184aa) | g.1:231155671G>A,c.493C>T,p.R165W |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71510631C>T,c.436C>T,p.R146W |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507205C>T,c.404C>T,p.P135L |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507186T>C,c.385T>C,p.C129R |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507169C>T,c.368C>T,p.P123L |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507157C>T,c.356C>T,p.T119I |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507152T>G,c.351T>G,p.N117K |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507129G>A,c.328G>A,p.G110R |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507126G>A,c.325G>A,p.A109T |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507097G>A,c.296G>A,p.W99X |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71507094G>A,c.293G>A,p.R98H |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71504528G>C,c.261+1G>C,p.87Donor |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71504514G>A,c.248G>A,p.R83Q |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71504475T>C,c.209T>C,p.V70A |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71504465G>A,c.199G>A,p.E67K |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71498671G>C,c.89G>C,p.R30P |
| FAM86C1(NM_018172,family with sequence similarity 86, member C1,165aa) | g.11:71498601G>T,c.19G>T,p.A7S |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12291593C>A,c.127G>T,p.D43Y |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12287957C>T,c.244G>A,p.E82K |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12287914A>G,c.287T>C,p.L96P |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12287878C>T,c.323G>A,p.G108D |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12286158A>T,c.726T>A,p.D242E |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12285250G>A,c.808C>T,p.R270W |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12285241T>G,c.817A>C,p.K273Q |
| FAM86B2(NM_001137610,family with sequence similarity 86, member B2,330aa) | g.8:12285205G>A,c.853C>T,p.R285C |