| 基因名 | 突变 |
|---|---|
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37679333G>A,c.61C>T,p.R21W |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37679268G>T,c.126C>A,p.D42E |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37678951C>T,c.443G>A,p.R148H |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37678884C>G,c.510G>C,p.R170S |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37678735G>A,c.659C>T,p.P220L |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37678729T>G,c.665A>C,p.Q222P |
| CSNK1A1L(NM_145203,casein kinase 1, alpha 1-like,337aa) | g.13:37678704T>A,c.690A>T,p.K230N |
| CSN3(NM_005212,casein kappa,182aa) | g.4:71115060G>A,c.433G>A,p.A145T |
| CSN3(NM_005212,casein kappa,182aa) | g.4:71114956G>T,c.329G>T,p.R110L |
| CSN3(NM_005212,casein kappa,182aa) | g.4:71114952C>T,c.325C>T,p.R109C |
| CSN2(NM_001891,casein beta,226aa) | g.4:70823320G>A,c.347C>T,p.P116L |
| CSN2(NM_001891,casein beta,226aa) | g.4:70823090C>T,c.577G>A,p.V193I |
| CSN2(NM_001891,casein beta,226aa) | g.4:70823081G>A,c.586C>T,p.L196F |
| CSN1S1(NM_001890,casein alpha s1,185aa) | g.4:70810709A>G,c.544A>G,p.M182V |
| CSN1S1(NM_001890,casein alpha s1,185aa) | g.4:70808264G>A,c.371G>A,p.R124H |
| CSN1S1(NM_001890,casein alpha s1,185aa) | g.4:70807771C>T,c.350C>T,p.A117V |
| CSN1S1(NM_001890,casein alpha s1,185aa) | g.4:70798284T>C,c.11T>C,p.L4P |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114449045T>A,c.39A>T,p.E13D |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114326813T>C,c.388A>G,p.N130D |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114186003T>C,c.657A>G,p.I219M |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114185993C>T,c.667G>A,p.V223I |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114185993C>A,c.667G>T,p.V223F |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114111156C>T,c.746G>A,p.S249N |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:114111093G>A,c.809C>T,p.T270I |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:113649078C>T,c.3683G>A,p.R1228Q |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:113564934C>T,c.4250G>A,p.R1417H |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:113562933T>C,c.4531A>G,p.I1511V |
| CSMD3(NM_198123,CUB and Sushi multiple domains 3,3707aa) | g.8:113504810G>A,c.5186C>T,p.A1729V |