Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_004913.3
p.P316T
c.946C>A
NM_004913.3
p.D377N
c.1129G>A
NM_004913.3
p.A2insFs
c.5_6insG
NM_004913.3
p.Q14*
c.40C>T
NM_004913.3
p.G109S
c.325G>A
NM_004913.3
p.V114I
c.340G>A
NM_004913.3
p.D117G
c.350A>G
NM_004913.3
p.S139S
c.417A>T
NM_004913.3
p.M189K
c.566T>A
NM_004913.3
p.N219D
c.655A>G
NM_004913.3
p.P230L
c.689C>T
NM_004913.3
p.D248H
c.742G>C