Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_152406.4
p.R84Q
c.251G>A
NM_152406.4
p.R312*
c.934C>T
NM_152406.4
p.R502H
c.1505G>A
NM_152406.4
p.D567D
c.1701C>T
NM_152406.4
p.R696C
c.2086C>T
NM_152406.4
p.D2Y
c.4G>T
NM_152406.4
p.E8K
c.22G>A
NM_152406.4
p.Q42_S43insFs
c.126_127insA
NM_152406.4
p.A60V
c.179C>T
NM_152406.4
p.V69M
c.205G>A
NM_152406.4
p.D79N
c.235G>A
NM_152406.4
p.A110G
c.329C>G