Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_001013619.4
p.Y145*
c.435T>A
NM_001013619.4
p.Y145*
c.435T>G
NM_001013619.4
p.R312L
c.935G>T
NM_001013619.4
p.N82delFs
c.244delA
NM_001013619.4
p.H202R
c.605A>G
NM_001013619.4
p.K343E
c.1027A>G
NM_001013619.4
p.S3R
c.7A>C
NM_001013619.4
p.S3R
c.9T>A
NM_001013619.4
p.S3R
c.9T>G
NM_001013619.4
p.P15H
c.44C>A
NM_001013619.4
p.Q21insFs
c.63dupA
NM_001013619.4
p.A24A
c.72G>A