Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_152397.3
p.D16Y
c.46G>T
NM_152397.3
p.H26delFs
c.76delG
NM_152397.3
p.H26fs
c.76_77fs
NM_152397.3
p.K57E
c.169A>G
NM_152397.3
p.L93I
c.277C>A
NM_152397.3
p.R103W
c.307C>T
NM_152397.3
p.R103Q
c.308G>A
NM_152397.3
p.R114Q
c.341G>A
NM_152397.3
p.E119K
c.355G>A
NM_152397.3
p.R139C
c.415C>T
NM_152397.3
p.R143H
c.428G>A
NM_152397.3
p.R166fs
c.496_497fs