Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_173569.4
p.R156P
c.467G>C
NM_173569.4
p.E538A
c.1613A>C
NM_173569.4
p.R579*
c.1735C>T
NM_173569.4
p.M979I
c.2937G>A
NM_173569.4
p.M979I
c.2937G>C
NM_173569.4
p.M979I
c.2937G>T
NM_173569.4
p.V7_L12del0
c.21_35del15
NM_173569.4
p.E19*
c.55G>T
NM_173569.4
p.E21_P35del15
c.61_104del45
NM_173569.4
p.E28V
c.83A>T
NM_173569.4
p.E34fs
c.100_101fs
NM_173569.4
p.P35insFs
c.103dupC