Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_001352913.2
p.F395C
c.1184T>G
NM_178587.3
p.C49R
c.145T>C
NM_178587.3
p.F55L
c.163T>C
NM_178587.3
p.F55L
c.165T>A
NM_178587.3
p.F55L
c.165T>G
NM_178587.3
p.P120R
c.359C>G
NM_001352913.2
p.E177K
c.529G>A
NM_178587.3
p.E122K
c.364G>A
NM_178587.3
p.E124K
c.370G>A
NM_001161725.2
p.T157del1
c.469_470delACG
NM_178587.3
p.T126del1
c.376_377delACG
NM_178587.3
p.A130del1
c.388_389delGCC