Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001277372.4
p.V42A
c.125T>C
NM_001277372.4
p.Y209H
c.625T>C
NM_001277372.4
p.P628Q
c.1883C>A
NM_001277372.4
p.K839insFs
c.2515dupA
NM_001277372.4
p.R1048*
c.3142C>T
NM_001277372.4
p.R9W
c.25C>T
NM_001277372.4
p.G15V
c.44G>T
NM_001277372.4
p.Y24H
c.70T>C
NM_001277372.4
p.V42D
c.125T>A
NM_001277372.4
p.W56*
c.167G>A
NM_001277372.4
p.W56*
c.168G>A
NM_001277372.4
p.F64L
c.190T>C