Papers
RefSeq ID
Protein change
DNA change
1–12 of 110 variants
NM_003591.4
p.K689R
c.2066A>G
NM_003591.4
p.V152L
c.454G>C
NM_003591.4
p.Q178H
c.534G>T
NM_003591.4
p.Q178H
c.534G>C
NM_003591.4
p.M335I
c.1005G>A
NM_003591.4
p.G562Splc
c.1684+5A>G
NM_003591.4
p.R686H
c.2057G>A
NM_003591.4
p.M1L
c.1A>T
NM_003591.4
p.M1L
c.1A>C
NM_003591.4
p.M1R
c.2T>G
NM_003591.4
p.S2insFs
c.5dupC
NM_003591.4
p.V7fs
c.19_20fs