Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_001110199.3
p.R375delFs
c.1124delG
NM_001110199.3
p.E53*
c.157G>T
NM_001110199.3
p.C67delFs
c.201delC
NM_001110199.3
p.E83Q
c.247G>C
NM_001110199.3
p.R85G
c.253C>G
NM_001110199.3
p.H158R
c.473A>G
NM_001110199.3
p.R179W
c.535C>T
NM_001110199.3
p.K183K
c.549A>G
NM_001110199.3
p.K201del1
c.601_602delAAG
NM_001110199.3
p.K201E
c.601A>G
NM_001110199.3
p.K203N
c.609G>C
NM_001110199.3
p.K203N
c.609G>T