Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_001008404.3
p.E54delFs
c.161delA
NM_001008404.3
p.*161del1
c.481_482delTGA
NM_001008404.3
p.E36K
c.106G>A
NM_001008404.3
p.*161fs
c.481_482fs
NM_001008404.3
p.R18C
c.52C>T
NM_001008404.3
p.A27V
c.80C>T
NM_001008404.3
p.R31Q
c.92G>A
NM_001008404.3
p.R37_E38Splc
c.112-1G>A
NM_001008404.3
p.K42M
c.125A>T
NM_001008404.3
p.S46fs
c.136_137fs
NM_001008404.3
p.V69G
c.206T>G
NM_001008404.3
p.H80R
c.239A>G