Papers
RefSeq ID
Protein change
DNA change
1–12 of 192 variants
NM_078480.3
p.H169Y
c.505C>T
NM_078480.3
p.A150_G153del0
c.449_457del9
NM_078480.3
p.E181K
c.541G>A
NM_078480.3
p.H449_R457del9
c.1345_1370del27
NM_078480.3
p.L8_Q9Splc
c.24+1G>C
NM_078480.3
p.D159N
c.475G>A
NM_078480.3
p.R448*
c.1342C>T
NM_078480.3
p.V483A
c.1448T>C
NM_078480.3
p.I136fs
c.406_407fs
NM_078480.3
p.Q147*
c.439C>T
NM_078480.3
p.Q210*
c.628C>T
NM_078480.3
p.L8_Q9Splc
c.24+1G>A