Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001098722.2
p.M5I
c.15G>T
NM_001098722.2
p.M5I
c.15G>C
NM_001098722.2
p.M5I
c.15G>A
NM_001098722.2
p.K33_V34Splc
c.99+10C>G
NM_001098722.2
p.A39V
c.116C>T
NM_001098722.2
p.C45Y
c.134G>A
NM_001098722.2
p.C45fs
c.133_134fs
NM_001098722.2
p.C45delFs
c.135delA
NM_001098722.2
p.R50Q
c.149G>A
NM_001098722.2
p.P57S
c.169C>T
NM_001098722.2
p.P64S
c.190C>T
NM_001098722.2
p.R66H
c.197G>A