From: Identification and characterisation of eight novel SERPINA1 Null mutations
Variant | Mutation |
---|---|
Q0cork | T180ACA,delCA > Ter190TAA |
Q0perugia | V239GTG, delG > Ter241TGA |
Q0brescia | E257GAG > TerTAG |
Q0torino | Y297TAT > TerTAA |
Q0cosenza | Q305CAA > TerTAA |
Q0pordenone | L327CTG,delT > Ter338TGA |
Q0lampedusa | V337GTG,delG > Ter338TGA |
Q0dublin | F370TTT,delT > Ter373TAA |