Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
NM_007374.3
p.H141N
c.421C>A
NM_007374.3
p.E129K
c.385G>A
NM_007374.3
p.T165A
c.493A>G
NM_007374.3
p.N178_R179delFs
c.532_536del5
NM_007374.3
p.L37P
c.110T>C
NM_007374.3
p.L205R
c.614T>G
NM_007374.3
p.S83L
c.248C>T
NM_007374.3
p.E93G
c.278A>G
NM_007374.3
p.R116G
c.346A>G
NM_007374.3
p.C134_F135insFs
c.402_403insC
NM_007374.3
p.S156insFs
c.467_468insT
NM_007374.3
p.N178fs
c.532_533fs