Table 5.
Cell line | c. Description | Codon number | Protein description | Mutation type |
---|---|---|---|---|
AMCPAC01 | c.384_393del10 | 128–131 | N.D | Deletion |
AMCPAC02 | N.A | N.A | N.A | Wild-type |
AMCPAC03 | N.A | N.A | N.A | Wild-type |
AMCPAC04 | c.380C>Ta | 127 | p.S127F | Missense |
AMCPAC05 | c.398T>A | 133 | p.M133K | Missense |
AMCPAC06 | c.451C>Tb | 151 | p.P151S | Missense |
NA not applicable, N.D not detectable
aLikely pathogenic
bPathogenic