Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_006659.4
p.R297C
c.889C>T
NM_006659.4
p.R333C
c.997C>T
NM_006659.4
p.L521F
c.1561C>T
NM_006659.4
p.E311K
c.931G>A
NM_006659.4
p.A615P
c.1843G>C
NM_006659.4
p.W675Splc
c.2025-2A>G
NM_006659.4
p.I6insFs
c.17_18ins29
NM_006659.4
p.T41S
c.121A>T
NM_006659.4
p.T41S
c.122C>G
NM_006659.4
p.R58C
c.172C>T
NM_006659.4
p.A339T
c.1015G>A
NM_006659.4
p.P60S
c.178C>T