Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_000891.2c.616G>Ap.(Gly206Ser)uncertain significance03.11.2020MVZ Dortmund
NM_000218.2c.270delp.(Val91Serfs*146)pathogenic03.11.2020MVZ Dortmund
NM_004519.4c.1045-2A>Gpathogenic03.11.2020MVZ Dortmund
NM_000425.5c.1646_1650delp.(Pro549Hisfs*17)pathogenic03.11.2020MVZ Dortmund
NM_000425.5c.1646_1650delp.(Pro549Hisfs*17)pathogenic03.11.2020MVZ Dortmund
NM_000233.3c.50_52delp.(Leu17del)uncertain significance03.11.2020MVZ Dortmund
NM_170707.3c.313G>Tp.(Glu105*)likely pathogenic03.11.2020MVZ Dortmund
NM_019888.3c.1043C>Tp.(Pro348Leu)uncertain significance03.11.2020MVZ Dortmund
NM_019888.3c.509_538dupp.(Ala170_Met179dup)uncertain significance03.11.2020MVZ Dortmund
NM_000256.3c.1351+1G>Apathogenic03.11.2020MVZ Dortmund
NM_002470.3c.4946G>Tp.(Gly1649Val)uncertain significance03.11.2020MVZ Dortmund
NM_000435.2c.2822A>Tp.(Asp941Val)uncertain significance03.11.2020MVZ Dortmund
NM_000435.2c.3542C>Tp.(Thr1181Ile)uncertain significance03.11.2020MVZ Dortmund
NM_000435.2c.3871C>Tp.(Arg1291Cys)likely pathogenic03.11.2020MVZ Dortmund
NM_000435.2c.6325C>Tp.(Arg2109Trp)uncertain significance03.11.2020MVZ Dortmund