Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_006268.5
p.C356G
c.1066T>G
NM_006268.5
p.C276F
c.827G>T
NM_006268.5
p.C330W
c.990C>G
NM_006268.5
p.D346G
c.1037A>G
NM_006268.5
p.R350H
c.1049G>A
NM_006268.5
p.W369R
c.1105T>C
NM_006268.5
p.Q245*
c.733C>T
NM_006268.5
p.C298S
c.892T>A
NM_006268.5
p.C298S
c.893G>C
NM_006268.5
p.G302Splc
c.904+1G>T
NM_006268.5
p.C356_T358delFs
c.1066_1073del8
NM_006268.5
p.C356fs
c.1066_1067fs