Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_001008270.3
p.A121T
c.361G>A
NM_001008270.3
p.L7ins1
c.19_20insTTG
NM_001008270.3
p.S19_S20insTTG
c.55_59ins9
NM_001008270.3
p.H36R
c.107A>G
NM_001008270.3
p.P53Q
c.158C>A
NM_001008270.3
p.P59Splc
c.176+1G>A
NM_001008270.3
p.V63L
c.187G>T
NM_001008270.3
p.V63L
c.187G>C
NM_001008270.3
p.P113S
c.337C>T
NM_001008270.3
p.T119P
c.355A>C
NM_001008270.3
p.L120insFs
c.358dupC
NM_001008270.3
p.L120fs
c.358_359fs