| 基因名 | 突变 |
|---|---|
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100029254C>T,c.2111G>A,p.R704Q |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100022563G>A,c.2620C>T,p.R874W |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100022421C>A,c.2762G>T,p.S921I |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100021056G>A,c.2896C>T,p.H966Y |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100020978G>T,c.2974C>A,p.Q992K |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100020945C>T,c.3007G>A,p.A1003T |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100019432G>C,c.3304C>G,p.L1102V |
| REV1(NM_016316,REV1, polymerase (DNA directed),1251aa) | g.2:100019256A>T,c.3392T>A,p.L1131H |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85581465T>G,c.166A>C,p.K56Q |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85578964G>A,c.194C>T,p.P65L |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85578015T>C,c.485A>G,p.N162S |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85577993C>T,c.507G>A,p.M169I |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85577310C>T,c.652G>A,p.V218M |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85577162del,c.799+1del,p.267Donordel |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85576669C>T,c.835G>A,p.A279T |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85576653T>C,c.851A>G,p.H284R |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85576579G>A,c.925C>T,p.R309W |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85573212T>C,c.1003A>G,p.S335G |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85573167C>T,c.1048G>A,p.V350M |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571789C>T,c.1184G>A,p.R395Q |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571458C>T,c.1270G>A,p.V424I |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571440C>A,c.1288G>T,p.E430X |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571433G>A,c.1295C>T,p.A432V |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571285C>T,c.1370G>A,p.R457Q |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85571210C>T,c.1445G>A,p.R482Q |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85570857G>A,c.1598C>T,p.A533V |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85570849C>T,c.1606G>A,p.G536R |
| RETSAT(NM_017750,retinol saturase (all-trans-retinol 13,14-reductase),610aa) | g.2:85570780G>T,c.1675C>A,p.P559T |