| 基因名 | 突变 |
|---|---|
| KRT31(NM_002277,keratin 31,416aa) | g.17:39553547G>A,c.245C>T,p.A82V |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551842G>A,c.622C>T,p.R208C |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551796C>T,c.668G>A,p.R223Q |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551793A>C,c.671T>G,p.V224G |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551763G>A,c.701C>T,p.A234V |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551619C>T,c.754G>A,p.E252K |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551570T>C,c.803A>G,p.Y268C |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551564G>A,c.809C>T,p.A270V |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551225C>G,c.972G>C,p.Q324H |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551155G>A,c.1042C>T,p.R348W |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551128G>A,c.1069C>T,p.R357W |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39551099C>T,c.1097+1G>A,p.366Donor |
| KRT31(NM_002277,keratin 31,416aa) | g.17:39550308G>A,c.1211C>T,p.P404L |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53045869G>A,c.58C>T,p.R20W |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53045826C>T,c.101G>A,p.R34Q |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53045626T>C,c.301A>G,p.S101G |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53045587C>T,c.340G>A,p.G114S |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53045391C>T,c.536G>A,p.R179H |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53044333C>T,c.590G>A,p.R197Q |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53044267C>T,c.656G>A,p.G219D |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53044156T>C,c.767A>G,p.N256S |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53043708G>A,c.851C>T,p.T284M |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53042808T>C,c.940A>G,p.K314E |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53042792G>A,c.956C>T,p.A319V |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53040744A>G,c.1249T>C,p.C417R |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53040588C>A,c.1405G>T,p.V469L |
| KRT2(NM_000423,keratin 2,639aa) | g.12:53039173G>C,c.1550C>G,p.A517G |
| KRT28(NM_181535,keratin 28,464aa) | g.17:38956027A>G,c.119T>C,p.V40A |