| Genename | Variants |
|---|---|
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45868145G>A,c.545C>T,p.A182V |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45867709C>T,c.691G>A,p.V231M |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45867576G>C,c.732C>G,p.I244M |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45867259C>T,c.934G>A,p.D312N |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45860928C>T,c.1267G>A,p.D423N |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45860760C>T,c.1349G>A,p.R450H |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45860626G>C,c.1381C>G,p.L461V |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45856398G>A,c.1774C>T,p.R592C |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45856370C>T,c.1802G>A,p.R601Q |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45856039C>T,c.1867G>A,p.V623I |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855906G>A,c.1904C>T,p.A635V |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855769C>T,c.2041G>A,p.D681N |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855574G>A,c.2083C>T,p.R695C |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855524G>A,c.2133C>T,p.D711D |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855507G>C,c.2150C>G,p.A717G |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45855492C>T,c.2165G>A,p.R722Q |
| ERCC2(NM_000400,excision repair cross-complementing rodent repair deficiency, complementation group 2,760aa) | g.19:45854919T>G,c.2251A>C,p.K751Q |
| ERC2(NM_015576,ELKS/RAB6-interacting/CAST family member 2,955aa) | g.3:56330401G>T,c.720C>A,p.H240Q |
| ERC2(NM_015576,ELKS/RAB6-interacting/CAST family member 2,955aa) | g.3:56330063T>A,c.1058A>T,p.N353I |
| ERC2(NM_015576,ELKS/RAB6-interacting/CAST family member 2,955aa) | g.3:56114861T>C,c.1625A>G,p.N542S |
| ERC2(NM_015576,ELKS/RAB6-interacting/CAST family member 2,955aa) | g.3:55922477G>A,c.2498C>T,p.A833V |
| ERC2(NM_015576,ELKS/RAB6-interacting/CAST family member 2,955aa) | g.3:55733488T>C,c.2759A>G,p.H920R |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1553873A>G,c.3170A>G,p.Q1057R |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1553866G>A,c.3163G>A,p.D1055N |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1553797A>G,c.3094A>G,p.T1032A |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1517342G>A,c.2953G>A,p.D985N |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1399126A>G,c.2728A>G,p.T910A |
| ERC1(NM_178040,ELKS/RAB6-interacting/CAST family member 1,1116aa) | g.12:1346042A>G,c.2459A>G,p.N820S |