Papers
RefSeq ID
Protein change
DNA change
1–12 of 105 variants
NM_000676.4
p.C72Y
c.215G>A
NM_000676.4
p.N153del1
c.457_458delAAC
NM_000676.4
p.A35V
c.104C>T
NM_000676.4
p.A51delFs
c.151_152delGC
NM_000676.4
p.T151_N152del2
c.451_455del6
NM_000676.4
p.C171S
c.511T>A
NM_000676.4
p.C171S
c.512G>C
NM_000676.4
p.V250A
c.749T>C
NM_000676.4
p.L310F
c.928C>T
NM_000676.4
p.L310P
c.929T>C
NM_000676.4
p.M1insFs
c.3dupG
NM_000676.4
p.A19T
c.55G>A