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%)