Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_006630.3
p.L130F
c.390G>C
NM_006630.3
p.L130F
c.390G>T
NM_006630.3
p.V420I
c.1258G>A
NM_006630.3
p.E62delFs
c.185delA
NM_006630.3
p.D66H
c.196G>C
NM_006630.3
p.K69R
c.206A>G
NM_006630.3
p.S84I
c.251G>T
NM_006630.3
p.V89I
c.265G>A
NM_006630.3
p.I107V
c.319A>G
NM_006630.3
p.I112T
c.335T>C
NM_006630.3
p.R123W
c.367C>T
NM_006630.3
p.V160fs
c.478_479fs