Varianten
Gen Transkript Variant Proteinaustausch Klassifizierung Eingetragen Labor
NM_014654.3c.286G>Ap.(Ala96Thr)uncertain significance03.11.2020MVZ Dortmund
NM_000338.2c.518G>Tp.(Gly173Val)uncertain significance03.11.2020MVZ Dortmund
NM_000351.7c.1129C>Tp.(Arg377Trp)likely pathogenic03.11.2020MVZ Dortmund
NM_005861.4c.863_865delAGGp.(Glu288del)likely pathogenic03.11.2020MVZ Dortmund
NM_001256317.1c.1208C>Tp.(Pro403Leu)likely pathogenic03.11.2020MVZ Dortmund
NM_003289.3c.220G>Ap.(Ala74Thr)uncertain significance03.11.2020MVZ Dortmund
NM_000368.4c.3059C>Tp.(Thr1020Ile)uncertain significance03.11.2020MVZ Dortmund
NM_133378.4c.46829G>Tp.(Arg15610Leu)uncertain significance03.11.2020MVZ Dortmund
NM_133378.4c.64613A>Cp.(Asn21538Thr)uncertain significance03.11.2020MVZ Dortmund
NM_133378.4c.74045C>Tp.(Ala24682Val)uncertain significance03.11.2020MVZ Dortmund
NM_133378.4c.83669G>Ap.(Ser27890Asn)uncertain significance03.11.2020MVZ Dortmund
NM_001256850 c.92430delTp.(Glu30811Asnfs*3)likely pathogenic03.11.2020MVZ Dortmund
NM_133378.4c.96288_96289delCCinsGGp.(Leu32097Val)uncertain significance03.11.2020MVZ Dortmund
NM_133378.4c.96434C>Tp.(Pro32145Leu)uncertain significance03.11.2020MVZ Dortmund
NM_130838.1c.1900-1G>Apathogenic03.11.2020MVZ Dortmund