Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_015407.5
p.R32Q
c.95G>A
NM_015407.5
p.L230R
c.689T>G
NM_015407.5
p.P23_T24Splc
c.70-8C>T
NM_015407.5
p.C61W
c.183C>G
NM_015407.5
p.R227G
c.679C>G
NM_015407.5
p.G3R
c.7G>A
NM_015407.5
p.G3R
c.7G>C
NM_015407.5
p.P20L
c.59C>T
NM_015407.5
p.G54D
c.161G>A
NM_015407.5
p.R84H
c.251G>A
NM_015407.5
p.R94Splc
c.282-25A>T
NM_015407.5
p.R94Splc
c.282-10G>C