| 基因名 | 突变 |
|---|---|
| KRT37(NM_003770,keratin 37,449aa) | g.17:39578340C>T,c.1001G>A,p.R334H |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577749C>T,c.1111G>A,p.E371K |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577716G>A,c.1144C>T,p.R382W |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577715C>A,c.1145G>T,p.R382L |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577617A>T,c.1241+2T>A,p.414Donor |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577218G>A,c.1262C>T,p.S421F |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577215G>A,c.1265C>T,p.T422M |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577186A>C,c.1294T>G,p.C432G |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577180G>A,c.1300C>T,p.P434S |
| KRT37(NM_003770,keratin 37,449aa) | g.17:39577171C>G,c.1309G>C,p.G437R |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39646047C>T,c.70G>A,p.G24S |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39645782C>T,c.335G>A,p.R112H |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39645705G>C,c.412C>G,p.P138A |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39644901G>A,c.535C>T,p.R179W |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39644595C>T,c.599G>A,p.R200H |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39644517C>A,c.677G>T,p.C226F |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643934G>C,c.755C>G,p.A252G |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643878C>T,c.811G>A,p.A271T |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643844G>T,c.845C>A,p.A282D |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643646G>A,c.944C>T,p.T315M |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643632C>T,c.958G>A,p.E320K |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39643340T>G,c.1070A>C,p.N357T |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39642800G>A,c.1232C>T,p.T411M |
| KRT36(NM_003771,keratin 36,467aa) | g.17:39642738G>A,c.1294C>T,p.P432S |
| KRT35(NM_002280,keratin 35,455aa) | g.17:39637244A>G,c.106T>C,p.S36P |
| KRT35(NM_002280,keratin 35,455aa) | g.17:39637220G>A,c.130C>T,p.P44S |
| KRT35(NM_002280,keratin 35,455aa) | g.17:39637030C>T,c.320G>A,p.R107H |
| KRT35(NM_002280,keratin 35,455aa) | g.17:39636995C>T,c.355G>A,p.E119K |