Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_001002814.3
p.T229M
c.686C>T
NM_001002814.3
p.R249S
c.745C>A
NM_001002814.3
p.A651V
c.1952C>T
NM_001002814.3
p.D1092H
c.3274G>C
NM_001002814.3
p.P250S
c.748C>T
NM_001002814.3
p.R379G
c.1135A>G
NM_001002814.3
p.T457M
c.1370C>T
NM_001002814.3
p.A1130fs
c.3388_3389fs
NM_001002814.3
p.T23T
c.69G>A
NM_001002814.3
p.L30L
c.90G>T
NM_001002814.3
p.G34S
c.100G>A
NM_001002814.3
p.Y42C
c.125A>G