Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_001142684.2
p.R348C
c.1042C>T
NM_001142684.2
p.D33insFs
c.97_98insT
NM_001142684.2
p.S49*
c.146C>G
NM_001142684.2
p.S49*
c.146C>A
NM_001142684.2
p.S97_V98insT
c.289_293ins3
NM_001142684.2
p.T231A
c.691A>G
NM_001142684.2
p.K343K
c.1029A>G
NM_001142684.2
p.G20delFs
c.59_60delCC
NM_001142684.2
p.D33fs
c.97_98fs
NM_001142684.2
p.D33fs
c.97_98fs
NM_001142684.2
p.A39G
c.116C>G
NM_001142684.2
p.S44N
c.131G>A