Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_017905.6
p.P14L
c.41C>T
NM_017905.6
p.V597V
c.1791C>T
NM_017905.6
p.V15L
c.43G>C
NM_017905.6
p.H25Y
c.73C>T
NM_017905.6
p.V41fs
c.121_122fs
NM_017905.6
p.V41_A42insFs
c.123_124insCA
NM_017905.6
p.A42V
c.125C>T
NM_017905.6
p.Q48Q
c.144G>A
NM_017905.6
p.Q48H
c.144G>C
NM_017905.6
p.Q48H
c.144G>T
NM_017905.6
p.V78A
c.233T>C
NM_017905.6
p.L117L
c.351G>A