Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_001142784.3
p.R296W
c.886C>T
NM_001142784.3
p.Q159*
c.475C>T
NM_001142784.3
p.P221R
c.662C>G
NM_001142784.3
p.P200T
c.598C>A
NM_001142784.3
p.S245C
c.734C>G
NM_001142784.3
p.Y232*
c.696C>A
NM_001142784.3
p.Y232*
c.696C>G
NM_001142784.3
p.R237P
c.710G>C
NM_001142784.3
p.R261C
c.781C>T
NM_001142784.3
p.R261H
c.782G>A
NM_001142784.3
p.R292*
c.874C>T
NM_001142784.3
p.T306_S308ins1
c.916_924dup9