Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_002752.5
p.A53T
c.157G>A
NM_002752.5
p.L198delFs
c.594delC
NM_002752.5
p.S2C
c.4A>T
NM_002752.5
p.V54A
c.161T>C
NM_002752.5
p.K55R
c.164A>G
NM_002752.5
p.R72H
c.215G>A
NM_002752.5
p.G199fs
c.595_596fs
NM_002752.5
p.C222S
c.664T>A
NM_002752.5
p.C222S
c.665G>C
NM_002752.5
p.G227C
c.679G>T
NM_002752.5
p.I321V
c.961A>G
NM_002752.5
p.M1I
c.3G>A