Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_130838.1c.2311G>Ap.(Val771Ile)uncertain significance03.11.2020MVZ Dortmund
NM_021833.4c.205G>Ap.(Glu69Lys)uncertain significance03.11.2020MVZ Dortmund
NM_003356.3c.284G>Ap.(Arg95His)uncertain significance03.11.2020MVZ Dortmund
NM_003361.3c.464G>Ap.(Cys155Tyr)likely pathogenic03.11.2020MVZ Dortmund
NM_003361.3c.907G>Cp.(Asp303His)uncertain significance03.11.2020MVZ Dortmund
NM_206933.2c.(4396+1_4397-1)_(6485+1_6486-1)delDeletion Exon 21-33pathogenic03.11.2020MVZ Dortmund
NM_206933.2c.6782G>Ap.(Trp2261Ter)pathogenic03.11.2020MVZ Dortmund
NM_052844.3c.877G>Cp.(Gly293Arg)uncertain significance03.11.2020MVZ Dortmund
NM_006005.3c.1238_1239insAGp.(Phe413Leufs*30)pathogenic03.11.2020MVZ Dortmund
NM_025216.2c.795_815dupp(His265_Cys271dup)likely pathogenic03.11.2020MVZ Dortmund