Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_003472.4
p.E41D
c.123G>T
NM_003472.4
p.E41D
c.123G>C
NM_003472.4
p.V140A
c.419T>C
NM_003472.4
p.F133V
c.397T>G
NM_003472.4
p.S251N
c.752G>A
NM_003472.4
p.K258fs
c.772_773fs
NM_003472.4
p.K258delFs
c.773delT
NM_003472.4
p.K348N
c.1044A>T
NM_003472.4
p.K348N
c.1044A>C
NM_003472.4
p.M1_S2insFs
c.3_4insA
NM_003472.4
p.M1_S2insFs
c.3_4insG
NM_003472.4
p.S2S
c.6C>A