Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_000901.4c.1987T>Cp.(Cys663Arg)uncertain significance03.11.2020MVZ Dortmund
NM_022455.4c.2248G>Tp.(Ala750Ser)uncertain significance03.11.2020MVZ Dortmund
NM_022455.4c.446G>Tp.(Gly149Val)uncertain significance03.11.2020MVZ Dortmund
NM_022455.4c.6658_6661delp.(Glu2220Metfs*73)likely pathogenic03.11.2020MVZ Dortmund
NM_000439.4c.1316T>Ap.(Phe439Tyr)uncertain significance03.11.2020MVZ Dortmund
NM_000439.4c.148G>Tp.(Ala50Ser)uncertain significance03.11.2020MVZ Dortmund
NM_000439.4c.300A>Tp.(Glu100Asp)uncertain significance03.11.2020MVZ Dortmund
NM_006206c.2555A>Gp.(Lys852Arg)uncertain significance03.11.2020MVZ Dortmund
NM_001009944.2c.11248_11249delCGp.(Arg3750Alafs*65)likely pathogenic03.11.2020MVZ Dortmund
NM_001009944.2c.11270-4deluncertain significance03.11.2020MVZ Dortmund
NM_001009944.2c.11692dupp.(Ser3898Phefs*63)likely pathogenic03.11.2020MVZ Dortmund
NM_001009944.2c.5899G>Ap.(Val1967Met)uncertain significance03.11.2020MVZ Dortmund
NM_001009944.2c.7146C>Gp.(Ser2382Arg)likely pathogenic03.11.2020MVZ Dortmund
NM_001009944.2c.8302G>Tp.(Val2768Leu)uncertain significance03.11.2020MVZ Dortmund
NM_000297.4c.1061A>Gp.(Asp354Gly)likely pathogenic03.11.2020MVZ Dortmund