Papers
RefSeq ID
Protein change
DNA change
1–12 of 200 variants
NM_002036.4
p.G42D
c.125G>A
NM_002036.4
p.R89C
c.265C>T
NM_002036.4
p.A100T
c.298G>A
NM_002036.4
p.A49S
c.145G>T
NM_002036.4
p.S326F
c.977C>T
NM_002036.4
p.L67F
c.199C>T
NM_002036.4
p.W96*
c.287G>A
NM_002036.4
p.G132D
c.395G>A
NM_002036.4
p.R7_A8Splc
c.21+150C>T
NM_002036.4
p.R7_A8Splc
c.22-58A>G
NM_002036.4
p.Q91*
c.271C>T
NM_002036.4
p.W96*
c.288G>A