Papers
RefSeq ID
Protein change
DNA change
1–12 of 484 variants
NM_000117.3
p.P183H
c.548C>A
NM_000117.3
p.S54F
c.161C>T
NM_000117.3
p.Q133H
c.399G>C
NM_000117.3
p.Q133H
c.399G>T
NM_000117.3
p.P183T
c.547C>A
NM_000117.3
p.W226*
c.677G>A
NM_000117.3
p.M1V
c.1A>G
NM_000117.3
p.K37_I38del1
c.110_112delAGA
NM_000117.3
p.Q44*
c.130C>T
NM_000117.3
p.P51_S52insFs
c.153_154insC
NM_000117.3
p.P51delFs
c.153delC
NM_000117.3
p.D6fs
c.16_17fs