Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_024065.5
p.C127Y
c.380G>A
NM_024065.5
p.P215P
c.645G>A
NM_024065.5
p.R226C
c.676C>T
NM_024065.5
p.M1T
c.2T>C
NM_024065.5
p.L14*
c.41T>A
NM_024065.5
p.L14*
c.41T>G
NM_024065.5
p.E28D
c.84A>C
NM_024065.5
p.E28D
c.84A>T
NM_024065.5
p.R38C
c.112C>T
NM_024065.5
p.R38H
c.113G>A
NM_024065.5
p.K46E
c.136A>G
NM_024065.5
p.Y48delFs
c.143_144delAT