Table 4.
Cell line | c. Description | Codon number | Protein description | Mutation type |
---|---|---|---|---|
AMCPAC01 | c.35_36GT>TCa | 12 | p.Gly12Val(G12V) | Missense |
AMCPAC02 | c.35G>Aa | 12 | p.Gly12Asp(G12D) | Missense |
AMCPAC03 | c.35G>Aa | 12 | p.Gly12Asp(G12D) | Missense |
AMCPAC04 | c.38G>Aa | 13 | p.Gly13Asp(G13D) | Missense |
AMCPAC05 | c.180_181insCTA | 60, 61 | p.Gly60_Gln61insLeu | Insertion |
AMCPAC05 | c.182A>Ta | 61 | p.Gln61Leu(Q61L) | Missense |
AMCPAC06 | c.34G>Ca | 12 | p.Gly12Arg(G12R) | Missense |
NA not applicable
aPathogenic