Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
NM_006826.4
p.A152T
c.454G>A
NM_006826.4
p.K49E
c.145A>G
NM_006826.4
p.T205A
c.613A>G
NM_006826.4
p.L6P
c.17T>C
NM_006826.4
p.T30_E31insFs
c.90_91ins4
NM_006826.4
p.R60W
c.178A>T
NM_006826.4
p.L90_R91ins4
c.268_272ins12
NM_006826.4
p.L98_E99Splc
c.295-1G>A
NM_006826.4
p.M1L
c.1A>T
NM_006826.4
p.M1L
c.1A>C
NM_006826.4
p.M1T
c.2T>C
NM_006826.4
p.E14K
c.40G>A