Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_012113.3
p.A173V
c.518C>T
NM_012113.3
p.G18E
c.53G>A
NM_012113.3
p.T23T
c.69G>T
NM_012113.3
p.Y24D
c.70T>G
NM_012113.3
p.E25D
c.75G>C
NM_012113.3
p.E25D
c.75G>T
NM_012113.3
p.Q30R
c.89A>G
NM_012113.3
p.P34delins
c.100delinsG
NM_012113.3
p.Q45R
c.134A>G
NM_012113.3
p.D49G
c.146A>G
NM_012113.3
p.T52I
c.155C>T
NM_012113.3
p.P59S
c.175C>T