Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_006586.5
p.S231I
c.692G>T
NM_006586.5
p.L17_L18del1
c.50_52delTGC
NM_006586.5
p.G125R
c.373G>C
NM_006586.5
p.K234_S240insFs
c.702_720dup19
NM_006586.5
p.M145K
c.434T>A
NM_006586.5
p.N183delFs
c.548delA
NM_006586.5
p.L17_L21del0
c.50_61del12
NM_006586.5
p.C52Y
c.155G>A
NM_006586.5
p.S92Splc
c.275+1G>A
NM_006586.5
p.R95L
c.284G>T
NM_006586.5
p.Q165_C166Splc
c.495+1G>A
NM_006586.5
p.Q165_C166Splc
c.496-2A>C