Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_001278063.4
p.P38L
c.113C>T
NM_001278063.4
p.F186F
c.558C>T
NM_001278063.4
p.H668P
c.2003A>C
NM_001278063.4
p.S917*
c.2750C>G
NM_001278063.4
p.S917*
c.2750C>A
NM_001278063.4
p.A34D
c.101C>A
NM_001278063.4
p.V41V
c.123G>A
NM_001278063.4
p.V52M
c.154G>A
NM_001278063.4
p.R61G
c.181C>G
NM_001278063.4
p.A65V
c.194C>T
NM_001278063.4
p.N82D
c.244A>G
NM_001278063.4
p.R83G
c.247C>G