Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_003099.5
p.D466N
c.1396G>A
NM_003099.5
p.G5insFs
c.14dupG
NM_003099.5
p.E132K
c.394G>A
NM_003099.5
p.R248G
c.742A>G
NM_003099.5
p.Q277L
c.830A>T
NM_003099.5
p.V406F
c.1216G>T
NM_003099.5
p.E432D
c.1296G>T
NM_003099.5
p.E455K
c.1363G>A
NM_003099.5
p.F467I
c.1399T>A
NM_003099.5
p.R480Q
c.1439G>A
NM_003099.5
p.K487T
c.1460A>C
NM_003099.5
p.A2V
c.5C>T