Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_004317.4
p.C289W
c.867C>G
NM_004317.4
p.Q305*
c.913C>T
NM_004317.4
p.V163A
c.488T>C
NM_004317.4
p.R65C
c.193C>T
NM_004317.4
p.D74N
c.220G>A
NM_004317.4
p.L303V
c.907C>G
NM_004317.4
p.R326fs
c.976_977fs
NM_004317.4
p.M1insFs
c.1dupA
NM_004317.4
p.E16K
c.46G>A
NM_004317.4
p.P19S
c.55C>T
NM_004317.4
p.K38E
c.112A>G
NM_004317.4
p.G46R
c.136G>C