Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_006056.5
p.R159C
c.475C>T
NM_006056.5
p.R259W
c.775C>T
NM_006056.5
p.M1_T2Splc
c.3+145C>G
NM_006056.5
p.L11F
c.31C>T
NM_006056.5
p.P12L
c.35C>T
NM_006056.5
p.N22S
c.65A>G
NM_006056.5
p.P62S
c.184C>T
NM_006056.5
p.R87C
c.259C>T
NM_006056.5
p.R87H
c.260G>A
NM_006056.5
p.T93K
c.278C>A
NM_006056.5
p.S101I
c.302G>T
NM_006056.5
p.V104E
c.311T>A