Papers
RefSeq ID
Protein change
DNA change
1–12 of 363 variants
NM_000160.5
p.G40S
c.118G>A
NM_000160.5
p.P86S
c.256C>T
NM_000160.5
p.R225H
c.674G>A
NM_000160.5
p.V368M
c.1102G>A
NM_000160.5
p.D63N
c.187G>A
NM_000160.5
p.T76M
c.227C>T
NM_000160.5
p.R308W
c.922C>T
NM_000160.5
p.F320del1
c.958_960delTTC
NM_000160.5
p.R8*
c.22C>T
NM_000160.5
p.W83fs
c.247_248fs
NM_000160.5
p.Q327*
c.979C>T
NM_000160.5
p.F345C
c.1034T>G