Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_012319.4
p.E119D
c.357G>T
NM_012319.4
p.E119D
c.357G>C
NM_012319.4
p.R752C
c.2254C>T
NM_012319.4
p.R248Q
c.743G>A
NM_012319.4
p.R351Q
c.1052G>A
NM_012319.4
p.A2P
c.4G>C
NM_012319.4
p.K4*
c.10A>T
NM_012319.4
p.I10T
c.29T>C
NM_012319.4
p.D47G
c.140A>G
NM_012319.4
p.Q54R
c.161A>G
NM_012319.4
p.E103D
c.309G>C
NM_012319.4
p.E109D
c.327G>T