Papers
RefSeq ID
Protein change
DNA change
1–12 of 240 variants
NM_000618.5
p.V92M
c.274G>A
NM_000618.5
p.R98W
c.292C>T
NM_000618.5
p.K23*
c.67A>T
NM_000618.5
p.R84Q
c.251G>A
NM_000618.5
p.M24L
c.70A>T
NM_000618.5
p.N74fs
c.220_221fs
NM_000618.5
p.R103K
c.308G>A
NM_000618.5
p.K134_E135Splc
c.402+1G>C
NM_000618.5
p.M1V
c.1A>G
NM_000618.5
p.C38*
c.114C>A
NM_000618.5
p.L58L
c.174G>C
NM_000618.5
p.Y108H
c.322T>C