Papers
RefSeq ID
Protein change
DNA change
1–12 of 233 variants
NM_001135254.2
p.R215H
c.644G>A
NM_001135254.2
p.A259V
c.776C>T
NM_001135254.2
p.P293P
c.879A>G
NM_001135254.2
p.R56C
c.166C>T
NM_001135254.2
p.R74*
c.220C>T
NM_001135254.2
p.R145*
c.433C>T
NM_001135254.2
p.G412S
c.1234G>A
NM_001135254.2
p.G463S
c.1387G>A
NM_001135254.2
p.G466S
c.1396G>A
NM_001135254.2
p.A3T
c.7G>A
NM_001135254.2
p.V29Splc
c.86-1G>A
NM_001135254.2
p.V29V
c.87G>A