Papers
RefSeq ID
Protein change
DNA change
1–12 of 267 variants
NM_014516.4
p.E20K
c.58G>A
NM_014516.4
p.P244insFs
c.732dupC
NM_014516.4
p.P243fs
c.727_728fs
NM_014516.4
p.E70K
c.208G>A
NM_014516.4
p.E20Q
c.58G>C
NM_014516.4
p.R188C
c.562C>T
NM_014516.4
p.R188H
c.563G>A
NM_014516.4
p.S242fs
c.724_725fs
NM_014516.4
p.S245fs
c.733_734fs
NM_014516.4
p.P472S
c.1414C>T
NM_014516.4
p.S491_G492delFs
c.1473_1474delAG
NM_014516.4
p.L48V
c.142C>G