Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_003805.5
p.G128R
c.382G>C
NM_003805.5
p.R170H
c.509G>A
NM_003805.5
p.R170C
c.508C>T
NM_003805.5
p.F164C
c.491T>G
NM_003805.5
p.A18_V20delFs
c.52_59del8
NM_003805.5
p.M1T
c.2T>C
NM_003805.5
p.A18fs
c.52_53fs
NM_003805.5
p.R52_D59del8
c.154_176del24
NM_003805.5
p.G65R
c.193G>C
NM_003805.5
p.Q169E
c.505C>G
NM_003805.5
p.M1R
c.2T>G
NM_003805.5
p.E2E
c.6G>A