Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001007540.4
p.T291M
c.872C>T
NM_001007540.4
p.A341V
c.1022C>T
NM_001007540.4
p.R582H
c.1745G>A
NM_001007540.4
p.R771Splc
c.2311+1G>A
NM_001007540.4
p.R5K
c.14G>A
NM_001007540.4
p.C23fs
c.67_68fs
NM_001007540.4
p.C23_G34delFs
c.69_100del32
NM_001007540.4
p.T62S
c.184A>T
NM_001007540.4
p.T62S
c.185C>G
NM_001007540.4
p.A71A
c.213C>T
NM_001007540.4
p.R72K
c.215G>A
NM_001007540.4
p.S85R
c.253A>C