Papers
RefSeq ID
Protein change
DNA change
1–12 of 143 variants
NM_016729.3
p.Q118*
c.352C>T
NM_016729.3
p.C175*
c.525C>A
NM_016729.3
p.R204*
c.610C>T
NM_016729.3
p.C105R
c.313T>C
NM_016729.3
p.W156G
c.466T>G
NM_016729.3
p.G165Splc
c.493+2T>C
NM_016729.3
p.C65W
c.195C>G
NM_016729.3
p.C169Y
c.506G>A
NM_016729.3
p.N222S
c.665A>G
NM_016729.3
p.A226V
c.677C>T
NM_016729.3
p.R125C
c.373C>T
NM_016729.3
p.R125L
c.374G>T