Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_003370.4
p.A269V
c.806C>T
NM_003370.4
p.R86H
c.257G>A
NM_003370.4
p.F33C
c.98T>G
NM_003370.4
p.R86C
c.256C>T
NM_003370.4
p.S157A
c.469T>G
NM_003370.4
p.R274Splc
c.822-1G>A
NM_003370.4
p.E373Q
c.1117G>C
NM_003370.4
p.M1V
c.1A>G
NM_003370.4
p.S2Splc
c.5+1G>T
NM_003370.4
p.S2Splc
c.6-1G>A
NM_003370.4
p.T4insFs
c.11dupC
NM_003370.4
p.T4T
c.12G>A