Papers
RefSeq ID
Protein change
DNA change
1–12 of 99 variants
NM_001135050.2
p.R279Q
c.836G>A
NM_001135050.2
p.G34E
c.101G>A
NM_001135050.2
p.R273H
c.818G>A
NM_001135050.2
p.L779F
c.2335C>T
NM_001135050.2
p.V9I
c.25G>A
NM_001135050.2
p.G22E
c.65G>A
NM_001135050.2
p.G48S
c.142G>A
NM_001135050.2
p.P50R
c.149C>G
NM_001135050.2
p.L52fs
c.154_155fs
NM_001135050.2
p.V54D
c.161T>A
NM_001135050.2
p.G71S
c.211G>A
NM_001135050.2
p.L72F
c.214C>T