Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_181783.4
p.H67D
c.199C>G
NM_181783.4
p.G384E
c.1151G>A
NM_181783.4
p.R71H
c.212G>A
NM_181783.4
p.Q873*
c.2617C>T
NM_181783.4
p.K112R
c.335A>G
NM_181783.4
p.R488fs
c.1462_1463fs
NM_181783.4
p.F562fs
c.1684_1685fs
NM_181783.4
p.R654fs
c.1960_1961fs
NM_181783.4
p.I841fs
c.2521_2522fs
NM_181783.4
p.M1I
c.3G>A
NM_181783.4
p.R488delFs
c.1462delA
NM_181783.4
p.F562_I567delFs
c.1686_1701del16