Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_178505.8
p.V5A
c.14T>C
NM_178505.8
p.L7R
c.20T>G
NM_178505.8
p.A9S
c.25G>T
NM_178505.8
p.Y36H
c.106T>C
NM_178505.8
p.T50I
c.149C>T
NM_178505.8
p.T50insFs
c.149dupC
NM_178505.8
p.A51fs
c.151_152fs
NM_178505.8
p.F65V
c.193T>G
NM_178505.8
p.S66*
c.197C>A
NM_178505.8
p.L71S
c.212T>C
NM_178505.8
p.E84K
c.250G>A
NM_178505.8
p.Q95*
c.283C>T