| Genename | Variants |
|---|---|
| KRT40(NM_182497,keratin 40,431aa) | g.17:39135066C>T,c.1186G>A,p.E396K |
| KRT40(NM_182497,keratin 40,431aa) | g.17:39135066C>A,c.1186G>T,p.E396X |
| KRT40(NM_182497,keratin 40,431aa) | g.17:39134528G>A,c.1217C>T,p.S406L |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189788G>C,c.39C>G,p.S13R |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189709C>T,c.118G>A,p.G40R |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189696C>G,c.131G>C,p.G44A |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189619C>T,c.208G>A,p.V70M |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189600C>T,c.227G>A,p.R76Q |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53189232G>A,c.595C>T,p.R199W |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53188055G>C,c.706C>G,p.Q236E |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53186985G>A,c.889C>T,p.R297C |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53186109C>T,c.1102G>A,p.D368N |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53186088G>C,c.1123C>G,p.R375G |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53185492C>T,c.1297G>A,p.E433K |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53185194G>A,c.1331C>T,p.T444M |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53185104G>A,c.1421C>T,p.A474V |
| KRT3(NM_057088,keratin 3,628aa) | g.12:53184619_53184620insA,c.1570+2insT,p.524Donorins |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39122939T>G,c.170A>C,p.Q57P |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39122874G>A,c.235C>T,p.R79C |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39122823C>T,c.286G>A,p.E96K |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39122804A>G,c.305T>C,p.I102T |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39119992C>T,c.595G>A,p.A199T |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39116728G>A,c.1022C>T,p.T341M |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39116644C>T,c.1106G>A,p.R369Q |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39116603G>T,c.1147C>A,p.L383M |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39116587C>T,c.1163G>A,p.R388Q |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39115095G>A,c.1234C>T,p.R412C |
| KRT39(NM_213656,keratin 39,491aa) | g.17:39115094C>T,c.1235G>A,p.R412H |