Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_058164.4
p.R144Q
c.431G>A
NM_058164.4
p.R106Q
c.317G>A
NM_058164.4
p.A37S
c.109G>T
NM_058164.4
p.T86M
c.257C>T
NM_058164.4
p.R208W
c.622C>T
NM_058164.4
p.L13Fs
c.39delinsCCFs
NM_058164.4
p.A19A
c.57C>G
NM_058164.4
p.Q21_T22Splc
c.63+16G>T
NM_001304347.2
p.T19T
c.57C>G
NM_058164.4
p.R58Q
c.173G>A
NM_058164.4
p.E70K
c.208G>A
NM_058164.4
p.Q67_K71delFs
c.199_212del14