Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_001001480.3
p.R17L
c.50G>T
NM_001001480.3
p.Y192C
c.575A>G
NM_001001480.3
p.G43_G46del0
c.129_137del9
NM_001001480.3
p.G43_G44ins4
c.129_130ins12
NM_001001480.3
p.C129_G130ins12
c.385_389ins36
NM_001001480.3
p.Y182_P191del0
c.544_573del30
NM_001001480.3
p.S172_Y182del0
c.516_545del30
NM_001001480.3
p.Y182S
c.545A>C
NM_001001480.3
p.Y182C
c.545A>G
NM_001001480.3
p.C14_G15del1
c.41_43delGTG
NM_001001480.3
p.G46G
c.138G>A
NM_001001480.3
p.C58_G61delFs
c.172_182del11