Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_001114118.3
p.S25Y
c.74C>A
NM_001114118.3
p.E207K
c.619G>A
NM_001114118.3
p.R5W
c.13C>T
NM_001114118.3
p.P16P
c.48G>A
NM_001114118.3
p.A17A
c.51G>A
NM_001114118.3
p.E36A
c.107A>C
NM_001114118.3
p.R107G
c.319A>G
NM_001114118.3
p.K118delFs
c.352_353delTT
NM_001114118.3
p.A119Splc
c.356-2A>T
NM_001114118.3
p.D134A
c.401A>C
NM_001114118.3
p.R173Q
c.518G>A
NM_001114118.3
p.I176F
c.526A>T