| 基因名 | 突变 |
|---|---|
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084213C>G,c.1480G>C,p.E494Q |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084039G>T,c.1654C>A,p.R552S |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152084039G>C,c.1654C>G,p.R552G |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152083965A>C,c.1728T>G,p.D576E |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152083745C>T,c.1948G>A,p.E650K |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152083325A>T,c.2368T>A,p.L790M |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152083235G>A,c.2458C>T,p.R820W |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082850C>G,c.2843G>C,p.R948P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082449T>C,c.3244A>G,p.K1082E |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082400G>C,c.3293C>G,p.P1098R |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082359C>T,c.3334G>A,p.E1112K |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082310C>G,c.3383G>C,p.R1128P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082296G>A,c.3397C>T,p.R1133C |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082257C>G,c.3436G>C,p.V1146L |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082109C>G,c.3584G>C,p.R1195P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152082068T>C,c.3625A>G,p.K1209E |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081942G>A,c.3751C>T,p.R1251W |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081928A>C,c.3765T>G,p.D1255E |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081921G>C,c.3772C>G,p.L1258V |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081701C>G,c.3992G>C,p.R1331P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081692G>C,c.4001C>G,p.T1334R |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081632C>G,c.4061G>C,p.R1354P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081623T>C,c.4070A>G,p.E1357G |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081444G>A,c.4249C>T,p.R1417C |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081363G>C,c.4330C>G,p.R1444G |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081362C>G,c.4331G>C,p.R1444P |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081302C>T,c.4391G>A,p.R1464H |
| TCHH(NM_007113,trichohyalin,1943aa) | g.1:152081116C>G,c.4577G>C,p.R1526P |