Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_153265.3
p.R269H
c.806G>A
NM_153265.3
p.R487W
c.1459C>T
NM_153265.3
p.L44P
c.131T>C
NM_153265.3
p.R45Q
c.134G>A
NM_153265.3
p.P61S
c.181C>T
NM_153265.3
p.G63R
c.187G>C
NM_153265.3
p.A68G
c.203C>G
NM_153265.3
p.P70P
c.210A>G
NM_153265.3
p.E90V
c.269A>T
NM_001300793.2
p.P101fs
c.301_302fs
NM_001300793.2
p.P101delFs
c.302delG
NM_153265.3
p.P109delFs
c.326delG