Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_001114357.3
p.R34Splc
c.101-1G>T
NM_001114357.3
p.V259delFs
c.775delG
NM_001114357.3
p.E38E
c.114G>A
NM_001114357.3
p.N93insFs
c.278dupA
NM_001114357.3
p.Q162*
c.484C>T
NM_001114357.3
p.V259fs
c.775_776fs
NM_001114357.3
p.A260T
c.778G>A
NM_001114357.3
p.R34R
c.102A>G
NM_001114357.3
p.Q45L
c.134A>T
NM_001114357.3
p.Y61H
c.181T>C
NM_001114357.3
p.P64S
c.190C>T
NM_001114357.3
p.V81M
c.241G>A