Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_007269.4
p.S198N
c.593G>A
NM_007269.4
p.A208T
c.622G>A
NM_007269.4
p.I237V
c.709A>G
NM_007269.4
p.R295Q
c.884G>A
NM_007269.4
p.T419M
c.1256C>T
NM_007269.4
p.R545C
c.1633C>T
NM_007269.4
p.M1V
c.1A>G
NM_007269.4
p.P3insFs
c.7_8insGG
NM_007269.4
p.P3A
c.7C>G
NM_007269.4
p.Q16H
c.48G>C
NM_007269.4
p.Q16H
c.48G>T
NM_007269.4
p.K17Splc
c.49+5G>C