
| Genename | Variants |
|---|---|
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:423901G>C,c.1916G>C,p.R639T |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:404985G>A,c.1504G>A,p.E502K |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:402042T>C,c.1241T>C,p.V414A |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:391167G>A,c.974G>A,p.R325H |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:391100A>G,c.907A>G,p.T303A |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:382509C>G,c.418C>G,p.P140A |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:367705A>G,c.155A>G,p.Y52C |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:361547T>G,c.88T>G,p.S30A |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:361508C>T,c.49C>T,p.L17F |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:361493G>A,c.34G>A,p.V12I |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51021197G>A,c.14C>T,p.A5V |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51021062T>C,c.149A>G,p.Y50C |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51019929A>C,c.501T>G,p.I167M |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51019001T>G,c.670A>C,p.N224H |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51018831G>C,c.692C>G,p.S231C |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51018814C>T,c.709G>A,p.V237I |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51018459C>T,c.871G>A,p.E291K |
| CHKB(NM_005198,choline kinase beta,395aa) | g.22:51018204T>C,c.983A>G,p.Q328R |
| CHKA(NM_001277,choline kinase alpha,457aa) | g.11:67821512G>C,c.1317C>G,p.D439E |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203194965T>C,c.89A>G,p.N30S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203194935C>T,c.119G>A,p.R40H |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203194834C>T,c.220G>A,p.E74K |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203194186C>T,c.304G>A,p.G102S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192768G>A,c.335C>T,p.T112M |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192703C>T,c.400G>A,p.G134S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192658C>A,c.445G>T,p.A149S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192360C>A,c.508G>T,p.A170S |
| CHIT1(NM_003465,chitinase 1 (chitotriosidase),466aa) | g.1:203192355C>A,c.513G>T,p.Q171H |