Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_003377.5
p.P3S
c.7C>T
NM_003377.5
p.K129delFs
c.386delA
NM_003377.5
p.K129fs
c.385_386fs
NM_003377.5
p.T166N
c.497C>A
NM_003377.5
p.P49P
c.147C>T
NM_003377.5
p.R50Q
c.149G>A
NM_003377.5
p.V52_V53del1
c.156_158delGGT
NM_003377.5
p.R125Splc
c.375-2A>G
NM_003377.5
p.P126S
c.376C>T
NM_003377.5
p.R148H
c.443G>A
NM_003377.5
p.A156_G158del3
c.466_473del9
NM_003377.5
p.A156_G158del0
c.468_473del6