Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_001015052.3
p.R55C
c.163C>T
NM_001015052.3
p.S68N
c.203G>A
NM_001015052.3
p.Q8_F9Splc
c.25-1G>T
NM_001015052.3
p.K17Q
c.49A>C
NM_001015052.3
p.G24E
c.71G>A
NM_001015052.3
p.G158S
c.472G>A
NM_001015052.3
p.M1I
c.3G>A
NM_001015052.3
p.M1_P2insFs
c.3_4insC
NM_001015052.3
p.A3insFs
c.8dupC
NM_002434.4
p.K9_K10insFs
c.27_28insT
NM_001015052.3
p.Q8_F9Splc
c.25-1G>A
NM_001015052.3
p.R19G
c.55C>G