40 Core list (S)CID v1 (12-11-2015)
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
RAG1 | NM_000448.2 | ja | nee | nvt | |
IL7R | NM_002185.3 | ja | nee | nvt | |
CD40LG | NM_000074.2 | ja | nee | nvt | |
CD3E | NM_000733.3 | ja | nee | nvt | |
RAG2 | NM_000536.3 | ja | nee | nvt | |
LIG4 | NM_002312.3 | ja | nee | nvt | |
PTPRC | NM_002838.4 | ja | nee | nvt | |
AK2 | NM_013411.4 | ja | nee | nvt | |
DOCK8 | NM203447.3 | ja | ja | nvt | SALSA MLPA P385 DOCK8 probemix |
STAT5B | NM_012448.3 | ja | nee | nvt | |
ORAI1 | NM_032790.3 | ja | nee | nvt | |
IL2RG | NM_000206.2 | ja | nee | nvt | |
ADA | NM_000022.2 | ja | nee | nvt | |
CD40 | NM_152854.2 | ja | nee | nvt | |
DCLRE1C | NM_001033855.1 | ja | nee | nvt | |
JAK3 | NM_000215.3 | ja | nee | nvt | |
CD3G | NM_000073.2 | ja | nee | nvt | |
ZAP70 | NM_001079.3 | ja | nee | nvt | |
PRKDC | NM_006904.6 | ja | nee | nvt | |
NHEJ1 | NM_024782.2 | ja | nee | nvt | |
PNP | NM_000270.3 | ja | nee | nvt | |
CD3D | NM_000732.4 | ja | nee | nvt | |
IL2RA | NM_000417.2 | ja | nee | nvt |