Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001371321.1
p.F146L
c.436T>C
NM_001371321.1
p.F146L
c.438C>A
NM_001371321.1
p.F146L
c.438C>G
NM_001371321.1
p.S14fs
c.40_41fs
NM_001371321.1
p.Y17Y
c.51C>T
NM_001371321.1
p.R33Q
c.98G>A
NM_001371321.1
p.P36H
c.107C>A
NM_001371321.1
p.A48D
c.143C>A
NM_001371321.1
p.A54E
c.161C>A
NM_001371321.1
p.R56G
c.166C>G
NM_001371321.1
p.V66M
c.196G>A
NM_001371321.1
p.W86Splc
c.258-80C>A