Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_006256.4
p.S89fs
c.265_266fs
NM_006256.4
p.E148Q
c.442G>C
NM_006256.4
p.E705K
c.2113G>A
NM_006256.4
p.R917Q
c.2750G>A
NM_006256.4
p.T958A
c.2872A>G
NM_006256.4
p.D978A
c.2933A>C
NM_006256.4
p.S3C
c.8C>G
NM_006256.4
p.L34delFs
c.101delT
NM_006256.4
p.D46E
c.138T>A
NM_006256.4
p.D47Y
c.139G>T
NM_006256.4
p.A66T
c.196G>A
NM_006256.4
p.V72I
c.214G>A