Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_003917.5
p.S377F
c.1130C>T
NM_003917.5
p.R346Q
c.1037G>A
NM_003917.5
p.Q274_V275Splc
c.822+1G>A
NM_003917.5
p.R546C
c.1636C>T
NM_003917.5
p.M1insFs
c.1dupA
NM_003917.5
p.P4H
c.11C>A
NM_003917.5
p.E14Q
c.40G>C
NM_003917.5
p.V27M
c.79G>A
NM_003917.5
p.R40C
c.118C>T
NM_003917.5
p.D43Y
c.127G>T
NM_003917.5
p.V57V
c.171C>A
NM_003917.5
p.Y87H
c.259T>C