Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_018640.5
p.H34H
c.102T>C
NM_018640.5
p.L2F
c.4C>T
NM_018640.5
p.P10insFs
c.29_30insTC
NM_018640.5
p.K11R
c.32A>G
NM_018640.5
p.A14S
c.40G>T
NM_018640.5
p.K19E
c.55A>G
NM_018640.5
p.L38_C42delFs
c.112_124del13
NM_018640.5
p.C45R
c.133T>C
NM_018640.5
p.G48E
c.143G>A
NM_018640.5
p.D66N
c.196G>A
NM_018640.5
p.R69Splc
c.206+1G>T
NM_018640.5
p.N76delFs
c.228delG