Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_021239.3
p.R399delFs
c.1195_1196delAG
NM_021239.3
p.E404fs
c.1210_1211fs
NM_021239.3
p.I152F
c.454A>T
NM_021239.3
p.E342A
c.1025A>C
NM_021239.3
p.R351H
c.1052G>A
NM_021239.3
p.D428E
c.1284C>A
NM_021239.3
p.D428E
c.1284C>G
NM_021239.3
p.R534*
c.1600C>T
NM_021239.3
p.H6D
c.16C>G
NM_021239.3
p.R9H
c.26G>A
NM_021239.3
p.L17P
c.50T>C
NM_021239.3
p.G20V
c.59G>T