Papers
RefSeq ID
Protein change
DNA change
1–12 of 645 variants
NM_000503.6
p.R440Q
c.1319G>A
NM_000503.6
p.G426S
c.1276G>A
NM_000503.6
p.I519V
c.1555A>G
NM_000503.6
p.R12delFs
c.35delC
NM_000503.6
p.R361*
c.1081C>T
NM_000503.6
p.R294*
c.880C>T
NM_000503.6
p.R492Splc
c.1475+1G>C
NM_000503.6
p.R350_D351Splc
c.1050+1G>T
NM_000503.6
p.Q543*
c.1627C>T
NM_000503.6
p.H585H
c.1755T>C
NM_000503.6
p.Q156*
c.466C>T
NM_000503.6
p.E380_E381Splc
c.1140+1G>A