Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_014469.5
p.R100H
c.299G>A
NM_014469.5
p.A4A
c.12G>A
NM_014469.5
p.P7S
c.19C>T
NM_014469.5
p.A66V
c.197C>T
NM_014469.5
p.S101insFs
c.301dupA
NM_014469.5
p.L108L
c.322C>T
NM_014469.5
p.T134A
c.400A>G
NM_014469.5
p.R155C
c.463C>T
NM_014469.5
p.R249R
c.747G>A
NM_014469.5
p.G388del1
c.1162_1163delGGC
NM_014469.5
p.V2I
c.4G>A
NM_014469.5
p.A4S
c.10G>T