Papers
RefSeq ID
Protein change
DNA change
1–12 of 122 variants
NM_001039706.3
p.W216*
c.647G>A
NM_001039706.3
p.W216*
c.648G>A
NM_001039706.3
p.Q255*
c.763C>T
NM_001039706.3
p.L357insFs
c.1069_1070insAC
NM_001039706.3
p.G472S
c.1414G>A
NM_001039706.3
p.V490M
c.1468G>A
NM_001039706.3
p.T885M
c.2654C>T
NM_001039706.3
p.Q158*
c.472C>T
NM_001039706.3
p.A240T
c.718G>A
NM_001039706.3
p.L287Splc
c.860+1G>A
NM_001039706.3
p.L357fs
c.1069_1070fs
NM_001039706.3
p.P432S
c.1294C>T