Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_015433.3
p.R207Q
c.620G>A
NM_015433.3
p.D7insFs
c.21dupT
NM_015433.3
p.P8fs
c.22_23fs
NM_015433.3
p.A53fs
c.157_158fs
NM_015433.3
p.G97Splc
c.289+1566C>T
NM_015433.3
p.A130S
c.388G>T
NM_015433.3
p.I135V
c.403A>G
NM_015433.3
p.P160L
c.479C>T
NM_015433.3
p.G164R
c.490G>A
NM_015433.3
p.G164R
c.490G>C
NM_015433.3
p.I176T
c.527T>C
NM_015433.3
p.H186H
c.558T>C