Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_018025.3
p.L476P
c.1427T>C
NM_018025.3
p.H724R
c.2171A>G
NM_018025.3
p.L728S
c.2183T>C
NM_018025.3
p.L520S
c.1559T>C
NM_018025.3
p.E898K
c.2692G>A
NM_018025.3
p.A2E
c.5C>A
NM_018025.3
p.E24K
c.70G>A
NM_018025.3
p.G25fs
c.73_74fs
NM_018025.3
p.R27K
c.80G>A
NM_018025.3
p.K29N
c.87G>C
NM_018025.3
p.K29N
c.87G>T
NM_018025.3
p.K30I
c.89A>T