Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_014385.4
p.R92Q
c.275G>A
NM_014385.4
p.S33T
c.97T>A
NM_014385.4
p.H43L
c.128A>T
NM_014385.4
p.A86E
c.257C>A
NM_014385.4
p.M1_L2del1
c.2_4delTGC
NM_014385.4
p.L10P
c.29T>C
NM_014385.4
p.I72V
c.214A>G
NM_014385.4
p.R92P
c.275G>C
NM_014385.4
p.R198H
c.593G>A
NM_014385.4
p.S200A
c.598T>G
NM_014385.4
p.G212R
c.634G>C
NM_014385.4
p.R273R
c.819C>T