Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_001012301.4
p.S217R
c.651C>A
NM_001012301.4
p.R260Q
c.779G>A
NM_001012301.4
p.S217R
c.649A>C
NM_001012301.4
p.S217R
c.651C>G
NM_001012301.4
p.R339W
c.1015C>T
NM_001012301.4
p.D372N
c.1114G>A
NM_001012301.4
p.A536P
c.1606G>C
NM_001012301.4
p.L4R
c.11T>G
NM_001012301.4
p.W22C
c.66G>C
NM_001012301.4
p.S26S
c.78C>T
NM_001012301.4
p.G31G
c.93G>A
NM_001012301.4
p.Q38Fs
c.114delinsCTFs