Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_175734.5
p.S108A
c.322T>G
NM_175734.5
p.R128C
c.382C>T
NM_175734.5
p.P287R
c.860C>G
NM_175734.5
p.R330W
c.988C>T
NM_175734.5
p.R333W
c.997C>T
NM_175734.5
p.Q15delFs
c.43delC
NM_175734.5
p.L30fs
c.88_89fs
NM_175734.5
p.L33F
c.97C>T
NM_175734.5
p.V35I
c.103G>A
NM_175734.5
p.V43M
c.127G>A
NM_175734.5
p.N66delFs
c.196delA
NM_175734.5
p.R125H
c.374G>A