Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_024587.4
p.K21Splc
c.62-2A>G
NM_024587.4
p.M74_V75insFs
c.222_223ins4
NM_024587.4
p.M74_V75insFs
c.222_223ins4
NM_024587.4
p.V75fs
c.223_224fs
NM_024587.4
p.E212K
c.634G>A
NM_024587.4
p.S217L
c.650C>T
NM_024587.4
p.V222_V223ins4
c.664_668ins12
NM_024587.4
p.R235C
c.703C>T
NM_024587.4
p.R235L
c.704G>T
NM_024587.4
p.T9I
c.26C>T
NM_024587.4
p.Q20L
c.59A>T
NM_024587.4
p.Q20fs
c.58_59fs