Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
NM_004115.4
p.F145S
c.434T>C
NM_004115.4
p.R163delFs
c.487delT
NM_004115.4
p.K177*
c.529A>T
NM_175929.3
p.T11A
c.31A>G
NM_004115.4
p.E147*
c.439G>T
NM_175929.3
p.V160A
c.479T>C
NM_175929.3
p.D70Splc
c.208+1G>A
NM_004115.4
p.G42C
c.124G>T
NM_004115.4
p.I71insFs
c.211_212insA
NM_004115.4
p.E147K
c.439G>A
NM_004115.4
p.F150S
c.449T>C
NM_004115.4
p.L211_H212insA
c.631_635ins3