Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_004289.7
p.A56P
c.166G>C
NM_004289.7
p.I447M
c.1341A>G
NM_004289.7
p.C450C
c.1350C>T
NM_004289.7
p.V555V
c.1665C>T
NM_004289.7
p.R568S
c.1704A>C
NM_004289.7
p.R568S
c.1704A>T
NM_004289.7
p.R584Q
c.1751G>A
NM_004289.7
p.R596C
c.1786C>T
NM_004289.7
p.K621fs
c.1861_1862fs
NM_004289.7
p.H3Y
c.7C>T
NM_004289.7
p.W8*
c.23G>A
NM_004289.7
p.W8*
c.24G>A