Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_002687.4
p.S671G
c.2011A>G
NM_002687.4
p.A305V
c.914C>T
NM_002687.4
p.A421V
c.1262C>T
NM_002687.4
p.S450G
c.1348A>G
NM_002687.4
p.E463Q
c.1387G>C
NM_002687.4
p.V509L
c.1525G>C
NM_002687.4
p.H549P
c.1646A>C
NM_002687.4
p.M1T
c.2T>C
NM_002687.4
p.R6K
c.17G>A
NM_002687.4
p.T7T
c.21T>A
NM_002687.4
p.L12Q
c.35T>A
NM_002687.4
p.E13Q
c.37G>C