Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_213649.2
p.Y157_T158Splc
c.471+1G>A
NM_213649.2
p.P78delFs
c.233delG
NM_213649.2
p.R247insFs
c.739dupA
NM_213649.2
p.P11delFs
c.32delG
NM_213649.2
p.P78fs
c.232_233fs
NM_213649.2
p.Q86Q
c.258A>G
NM_213649.2
p.T120_V121Splc
c.361-2A>T
NM_213649.2
p.T158fs
c.472_473fs
NM_213649.2
p.R247fs
c.739_740fs
NM_213649.2
p.Q323fs
c.967_968fs
NM_213649.2
p.Q323delFs
c.969delC
NM_213649.2
p.*338Q
c.1012T>C