Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_002315.3
p.A52A
c.156C>G
NM_002315.3
p.F151F
c.453T>C
NM_002315.3
p.K20R
c.59A>G
NM_002315.3
p.R34H
c.101G>A
NM_002315.3
p.R75*
c.223C>T
NM_002315.3
p.R75Q
c.224G>A
NM_002315.3
p.M1_M2insFs
c.3_4insA
NM_002315.3
p.D8N
c.22G>A
NM_002315.3
p.G9C
c.25G>T
NM_002315.3
p.G9Splc
c.25+25C>A
NM_002315.3
p.G9fs
c.25_26fs
NM_002315.3
p.G9G
c.27C>T