Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_018320.5
p.Y185C
c.554A>G
NM_018320.5
p.D20E
c.60T>A
NM_018320.5
p.D20E
c.60T>G
NM_018320.5
p.E31K
c.91G>A
NM_018320.5
p.R39H
c.116G>A
NM_018320.5
p.G46D
c.137G>A
NM_018320.5
p.E48delFs
c.143delA
NM_018320.5
p.A60T
c.178G>A
NM_018320.5
p.R78H
c.233G>A
NM_018320.5
p.W138*
c.413G>A
NM_018320.5
p.V157F
c.469G>T
NM_018320.5
p.M158R
c.473T>G