Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_052862.4
p.P56H
c.167C>A
NM_052862.4
p.T246I
c.737C>T
NM_052862.4
p.A305T
c.913G>A
NM_052862.4
p.M1R
c.2T>G
NM_052862.4
p.E2_E3Splc
c.6+14555C>T
NM_052862.4
p.R4K
c.11G>A
NM_052862.4
p.A16A
c.48G>A
NM_052862.4
p.E36_T37Splc
c.108+2T>C
NM_052862.4
p.K41E
c.121A>G
NM_052862.4
p.T43T
c.129C>T
NM_052862.4
p.P48A
c.142C>G
NM_052862.4
p.F54fs
c.160_161fs