Papers
RefSeq ID
Protein change
DNA change
NM_001376932.3
p.A251T
c.751G>A
NM_001376932.3
p.T23T
c.69G>T
NM_001376932.3
p.P47fs
c.139_140fs
NM_001376932.3
p.V59V
c.177G>T
NM_001376932.3
p.G108fs
c.322_323fs
NM_001376932.3
p.L194Q
c.581T>A
NM_001376932.3
p.V197M
c.589G>A
NM_001376932.3
p.W423*
c.1268G>A
NM_001376932.3
p.N451delFs
c.1353delT