Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
NM_022034.6
p.V246M
c.736G>A
NM_022034.6
p.S55G
c.163A>G
NM_022034.6
p.R231H
c.692G>A
NM_022034.6
p.R464*
c.1390C>T
NM_022034.6
p.R511H
c.1532G>A
NM_022034.6
p.E43D
c.129G>T
NM_022034.6
p.E43D
c.129G>C
NM_022034.6
p.N169S
c.506A>G
NM_022034.6
p.I285T
c.854T>C
NM_022034.6
p.R511C
c.1531C>T
NM_022034.6
p.R539H
c.1616G>A
NM_022034.6
p.R542K
c.1625G>A