Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_002263.4
p.A490V
c.1469C>T
NM_002263.4
p.R5S
c.15G>C
NM_002263.4
p.R5S
c.15G>T
NM_002263.4
p.R273Q
c.818G>A
NM_002263.4
p.T368P
c.1102A>C
NM_002263.4
p.V541V
c.1623A>C
NM_002263.4
p.Q4H
c.12G>C
NM_002263.4
p.S6insFs
c.16_17ins8
NM_002263.4
p.S6insFs
c.16_17ins4
NM_002263.4
p.S31A
c.91T>G
NM_002263.4
p.I62I
c.186T>A
NM_002263.4
p.Q115H
c.345G>C