Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_058192.3
p.Y46*
c.138C>G
NM_058192.3
p.Y46*
c.138C>A
NM_058192.3
p.D55fs
c.163_164fs
NM_058192.3
p.D55insFs
c.164_165insA
NM_058192.3
p.R61Splc
c.182+6G>A
NM_058192.3
p.V76M
c.226G>A
NM_058192.3
p.A81G
c.242C>G
NM_058192.3
p.A83T
c.247G>A
NM_058192.3
p.Y87N
c.259T>A
NM_058192.3
p.K91N
c.273G>C
NM_058192.3
p.R104Q
c.311G>A
NM_058192.3
p.I118T
c.353T>C