Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_199227.3
p.Y183H
c.547T>C
NM_199227.3
p.L10F
c.28C>T
NM_199227.3
p.G14Splc
c.40+18734C>T
NM_199227.3
p.G14Splc
c.41-15T>G
NM_199227.3
p.G14V
c.41G>T
NM_199227.3
p.Y27C
c.80A>G
NM_199227.3
p.R43W
c.127C>T
NM_199227.3
p.R43Q
c.128G>A
NM_199227.3
p.R44K
c.131G>A
NM_199227.3
p.S60S
c.180A>G
NM_199227.3
p.P80fs
c.238_239fs
NM_199227.3
p.D81H
c.241G>C