Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
NM_000040.3
p.R19*
c.55C>T
NM_000040.3
p.R19Splc
c.55+1G>A
NM_000040.3
p.A43T
c.127G>A
NM_000040.3
p.A23T
c.67G>A
NM_000040.3
p.R60Splc
c.179+1G>T
NM_000040.3
p.D25V
c.74A>T
NM_000040.3
p.D65N
c.193G>A
NM_000040.3
p.W62S
c.185G>C
NM_000040.3
p.A10T
c.28G>A
NM_000040.3
p.G34G
c.102T>C
NM_000040.3
p.D45V
c.134A>T
NM_000040.3
p.K78E
c.232A>G