Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001145196.1
p.P1102L
c.3305C>T
NM_001145196.1
p.P420L
c.1259C>T
NM_001145196.1
p.G364R
c.1090G>A
NM_001145196.1
p.G364R
c.1090G>C
NM_001145196.1
p.D144V
c.431A>T
NM_001145196.1
p.A431T
c.1291G>A
NM_001145196.1
p.H1223R
c.3668A>G
NM_001145196.1
p.Q1266K
c.3796C>A
NM_001145196.1
p.R1279R
c.3837G>A
NM_001145196.1
p.P1316H
c.3947C>A
NM_001145196.1
p.T22I
c.65C>T
NM_001145196.1
p.R70W
c.208C>T