Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_001427.4
p.L121F
c.361C>T
NM_001427.4
p.P142R
c.425C>G
NM_001427.4
p.G229Splc
c.686-1073G>A
NM_001427.4
p.V311M
c.931G>A
NM_001427.4
p.E3A
c.8A>C
NM_001427.4
p.E10Q
c.28G>C
NM_001427.4
p.A14V
c.41C>T
NM_001427.4
p.R19Q
c.56G>A
NM_001427.4
p.E22K
c.64G>A
NM_001427.4
p.E22A
c.65A>C
NM_001427.4
p.P25delFs
c.75delC
NM_001427.4
p.G26fs
c.76_77fs