Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_001393662.1
p.S125fs
c.373_374fs
NM_001393662.1
p.S125insFs
c.373_374ins4
NM_001393662.1
p.Q126delFs
c.376_377delCA
NM_001393662.1
p.L104P
c.311T>C
NM_001393662.1
p.Q126fs
c.376_377fs
NM_001393662.1
p.D30G
c.89A>G
NM_001393662.1
p.K58_P65del0
c.174_194del21
NM_001393662.1
p.S125T
c.374G>C
NM_001393662.1
p.V140M
c.418G>A
NM_001393662.1
p.P194L
c.581C>T
NM_001393662.1
p.M1insFs
c.2dupT
NM_001393662.1
p.T15R
c.44C>G