Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_003324.5
p.R408H
c.1223G>A
NM_003324.5
p.T164_D165Splc
c.492+1G>A
NM_003324.5
p.R382W
c.1144C>T
NM_003324.5
p.C204W
c.612T>G
NM_003324.5
p.R24*
c.70C>T
NM_003324.5
p.L182delFs
c.544delC
NM_003324.5
p.N341_N342Splc
c.1023+1G>A
NM_003324.5
p.S370T
c.1109G>C
NM_003324.5
p.G85Splc
c.253+1G>T
NM_003324.5
p.L235F
c.703C>T
NM_003324.5
p.Y308_E309Splc
c.925-1G>A
NM_003324.5
p.K320Q
c.958A>C