Papers
RefSeq ID
Protein change
DNA change
1–12 of 267 variants
NM_000343.4
p.N51S
c.152A>G
NM_000343.4
p.D28N
c.82G>A
NM_000343.4
p.A411T
c.1231G>A
NM_000343.4
p.C355S
c.1063T>A
NM_000343.4
p.C355S
c.1064G>C
NM_000343.4
p.Q457R
c.1370A>G
NM_000343.4
p.R499H
c.1496G>A
NM_000343.4
p.H615Q
c.1845C>A
NM_000343.4
p.H615Q
c.1845C>G
NM_000343.4
p.R135W
c.403C>T
NM_000343.4
p.C292Y
c.875G>A
NM_000343.4
p.R558H
c.1673G>A