Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_004718.4
p.A104T
c.310G>A
NM_004718.4
p.K44*
c.130A>T
NM_004718.4
p.G7D
c.20G>A
NM_004718.4
p.F8S
c.23T>C
NM_004718.4
p.L12*
c.35T>A
NM_004718.4
p.Q24K
c.70C>A
NM_004718.4
p.A34P
c.100G>C
NM_004718.4
p.T50A
c.148A>G
NM_004718.4
p.T50K
c.149C>A
NM_004718.4
p.G56W
c.166G>T
NM_004718.4
p.K59E
c.175A>G
NM_004718.4
p.Q68_K69Splc
c.204+335G>C