Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_004006.2c.5255T>Gp.(Leu1752Ter)pathogenic03.11.2020MVZ Dortmund
NM_001936.4c.366T>Gp.(Ile122Met)uncertain significance03.11.2020MVZ Dortmund
NM_001936.4c.366T>Gp.(Ile22Met)likely pathogenic03.11.2020MVZ Dortmund
NM_001080463.1c.6325A>Gp.(Arg2109Gly)likely pathogenic03.11.2020MVZ Dortmund
NM_006208.2c.118C>Ap.(Pro40Thr)uncertain significance03.11.2020MVZ Dortmund
NM_006208.2c.1405T>Cp.(Phe469Leu)uncertain significance03.11.2020MVZ Dortmund
NM_006208.2c.2608C>Ap.(His870Asn)uncertain significance03.11.2020MVZ Dortmund
NM_014728.3c.2433dupp.(Pro812Thrfs*4)pathogenic03.11.2020MVZ Dortmund
NM_198335.3c.2242A>Gp.(Met748Val)uncertain significance03.11.2020MVZ Dortmund
NM_005260.5c.454C>Tp.(His152Tyr)uncertain significance03.11.2020MVZ Dortmund
NM_005477.2c.2197G>Ap.(Val733Ile)uncertain significance03.11.2020MVZ Dortmund
NM_018486.2c.165-2A>Gpathogenic03.11.2020MVZ Dortmund
NM_032383.4c.1199C>Tp.(Ala400Val)uncertain significance03.11.2020MVZ Dortmund
NM_000238.3c.1904A>Cp.(Asn635Thr)likely pathogenic03.11.2020MVZ Dortmund
NM_000220.4c.137A>Gp.(Asp46Gly)uncertain significance03.11.2020MVZ Dortmund