Papers
RefSeq ID
Protein change
DNA change
1–12 of 120 variants
NM_001143764.3
p.A66Splc
c.197-2A>G
NM_001143764.3
p.F230delFs
c.689_690delAA
NM_001143764.3
p.R125G
c.373A>G
NM_001143764.3
p.L91Splc
c.271+2T>C
NM_001143764.3
p.F230fs
c.688_689fs
NM_001143764.3
p.Q241*
c.721C>T
NM_001143764.3
p.R125G
c.373A>G
NM_001143764.3
p.K183R
c.548A>G
NM_001143764.3
p.E159K
c.475G>A
NM_130784.4
p.Q205*
c.613C>T
NM_001143764.3
p.Q294*
c.880C>T
NM_001143764.3
p.S5A
c.13T>G