Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_013263.5
p.E277delFs
c.830_831delCT
NM_013263.5
p.E277fs
c.829_830fs
NM_013263.5
p.E277fs
c.829_830fs
NM_013263.5
p.F49L
c.145T>C
NM_013263.5
p.F49L
c.147C>G
NM_013263.5
p.F49L
c.147C>A
NM_013263.5
p.A282A
c.846C>T
NM_013263.5
p.E36A
c.107A>C
NM_013263.5
p.Q191*
c.571C>T
NM_013263.5
p.L240V
c.718C>G
NM_013263.5
p.S291G
c.871A>G
NM_013263.5
p.Y457fs
c.1369_1370fs