| Genename | Variants |
|---|---|
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24680739C>T,c.370G>A,p.G124R |
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24680702A>G,c.407T>C,p.I136T |
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24680670G>A,c.439C>T,p.R147C |
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24679928G>A,c.535C>T,p.Q179X |
| CHMP4A(NM_014169,charged multivesicular body protein 4A,265aa) | g.14:24679877C>T,c.586G>A,p.G196R |
| CHMP3(NM_016079,charged multivesicular body protein 3,222aa) | g.2:86769377C>T,c.104G>A,p.R35K |
| CHMP2B(NM_014043,charged multivesicular body protein 2B,213aa) | g.3:87294900A>C,c.163A>C,p.K55Q |
| CHMP2A(NM_014453,charged multivesicular body protein 2A,222aa) | g.19:59063084C>T,c.601G>A,p.A201T |
| CHMP1B(NM_020412,charged multivesicular body protein 1B,199aa) | g.18:11851656G>A,c.146G>A,p.R49K |
| CHMP1A(NM_002768,charged multivesicular body protein 1A,196aa) | g.16:89715836C>T,c.175G>A,p.G59S |
| CHMP1A(NM_002768,charged multivesicular body protein 1A,196aa) | g.16:89713042G>A,c.462C>T,p.A154A |
| CHM(NM_000390,choroideremia (Rab escort protein 1),653aa) | g.X:85233820T>A,c.265A>T,p.S89C |
| CHM(NM_000390,choroideremia (Rab escort protein 1),653aa) | g.X:85219004G>A,c.368C>T,p.A123V |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241799064G>A,c.5C>T,p.A2V |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241799058T>C,c.11A>G,p.N4S |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241798684T>C,c.385A>G,p.N129D |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241798615C>T,c.454G>A,p.E152K |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241798443G>A,c.626C>T,p.A209V |
| CHML(NM_001821,choroideremia-like (Rab escort protein 2),656aa) | g.1:241797819C>T,c.1250G>A,p.R417Q |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:447323G>A,c.3604G>A,p.A1202T |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:447269G>A,c.3550G>A,p.G1184R |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:447212C>T,c.3493C>T,p.R1165W |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:439963A>G,c.3148A>G,p.I1050V |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:436384A>T,c.2923A>T,p.T975S |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:432682T>G,c.2631T>G,p.H877Q |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:432482C>T,c.2569C>T,p.R857C |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:424274A>G,c.2096A>G,p.Q699R |
| CHL1(NM_006614,cell adhesion molecule L1-like,1224aa) | g.3:423904A>G,c.1919A>G,p.Q640R |