Papers
RefSeq ID
Protein change
DNA change
1–12 of 150 variants
NM_001318810.2
p.R861C
c.2581C>T
NM_001318810.2
p.W306*
c.917G>A
NM_001318810.2
p.W306*
c.918G>A
NM_001318810.2
p.W429fs
c.1285_1286fs
NM_001318810.2
p.R443H
c.1328G>A
NM_001318810.2
p.T699S
c.2095A>T
NM_001318810.2
p.T699S
c.2096C>G
NM_001318810.2
p.G12*
c.34G>T
NM_001318810.2
p.L19I
c.55C>A
NM_001318810.2
p.P43L
c.128C>T
NM_001318810.2
p.P47fs
c.139_140fs
NM_001318810.2
p.E51G
c.152A>G