Mutation location | CDS change | dbSNP number | Amino acid/ protein change | Frequency (%) N = 50 |
Chr17: 48728333 | c.261C > A | rs1197613952 | p.Tyr87Ter | (12%) |
Chr17: 48728330 | c.264C > A | rs1597934612 | p.Tyr88Ter | (4%) |
Chr17: 48728053 | c.541C > T | rs1597933874 | p.Gln181Ter | (4%) |
Chr17: 48728042 | c.552C > A | rs1597933837 | p.Cys184Ter | (4%) |
Chr17: 48728010 | c.585G > A | rs867793282 | p.Trp195Ter | (4%) |