Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_004571.5
p.Q79L
c.236A>T
NM_004571.5
p.K134T
c.401A>C
NM_004571.5
p.S144I
c.431G>T
NM_004571.5
p.K151E
c.451A>G
NM_004571.5
p.P192A
c.574C>G
NM_004571.5
p.Q237E
c.709C>G
NM_004571.5
p.Q247R
c.740A>G
NM_004571.5
p.V265I
c.793G>A
NM_004571.5
p.K293insFs
c.879dupA
NM_004571.5
p.R340Q
c.1019G>A
NM_004571.5
p.D389A
c.1166A>C
NM_004571.5
p.E413G
c.1238A>G