Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_001105528.4
p.M292delFs
c.874delT
NM_001105528.4
p.D153Splc
c.457+2T>C
NM_001105528.4
p.M292fs
c.874_875fs
NM_001105528.4
p.D15V
c.44A>T
NM_001105528.4
p.Q16H
c.48A>C
NM_001105528.4
p.K32*
c.94A>T
NM_001105528.4
p.K32E
c.94A>G
NM_001105528.4
p.A42D
c.125C>A
NM_001105528.4
p.L49I
c.145C>A
NM_001105528.4
p.V71M
c.211G>A
NM_001105528.4
p.R82*
c.244C>T
NM_001105528.4
p.R82Q
c.245G>A