Papers
RefSeq ID
Protein change
DNA change
1–12 of 1183 variants
NM_001255.3
p.Y228C
c.683A>G
NM_001255.3
p.R322Q
c.965G>A
NM_001255.3
p.R182*
c.544C>T
NM_001255.3
p.R322*
c.964C>T
NM_001255.3
p.K110_E111Splc
c.330+1G>A
NM_001255.3
p.G272fs
c.814_815fs
NM_001255.3
p.R383C
c.1147C>T
NM_001255.3
p.V271_G272insFs
c.813_814ins4
NM_001255.3
p.C392_L393delFs
c.1176_1179del4
NM_001255.3
p.C392*
c.1176T>A
NM_001255.3
p.L439R
c.1316T>G
NM_001255.3
p.A211T
c.631G>A