9 Core list Fanconi anaemie v1 (2016-01-15)
gen | ref seq | sequentie analyse | CNV analyse | repeatexpansie analyse | opmerkingen |
FANCA | NM_000135.2 | ja | ja | nvt | |
FANCB | NM_001018113.1 | ja | ja | nvt | alleen bij mannen |
FANCC | NM_000136.2 | ja | nee | nvt | |
FANCE | NM_021922.2 | ja | nee | nvt | |
FANCF | NM_022725.3 | ja | nee | nvt | |
FANCG | NM_004629.1 | ja | nee | nvt |