Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_006990.5
p.E122Q
c.364G>C
NM_006990.5
p.P399_P400del1
c.1197_1199delGGA
NM_006990.5
p.L133_N134delFs
c.399_400delTG
NM_006990.5
p.Y150D
c.448T>G
NM_006990.5
p.Y150F
c.449A>T
NM_006990.5
p.T346A
c.1036A>G
NM_006990.5
p.P399_P400del2
c.1195_1199del6
NM_006990.5
p.V469M
c.1405G>A
NM_006990.5
p.R15C
c.43C>T
NM_006990.5
p.C14_R15insFs
c.40_43dup4
NM_006990.5
p.Q16R
c.47A>G
NM_006990.5
p.S20C
c.58A>T