Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_144577.4
p.A248T
c.742G>A
NM_001364171.2
p.L501Splc
c.1502+5G>A
NM_001364171.2
p.A285T
c.853G>A
NM_144577.4
p.L464Splc
c.1391+5G>A
NM_144577.4
p.K162_E163Splc
c.486+1G>A
NM_001364171.2
p.K199_E200Splc
c.598-2A>G
NM_001364171.2
p.S469fs
c.1405_1406fs
NM_001364171.2
p.Q496*
c.1486C>T
NM_001364171.2
p.M1insFs
c.2dupT
NM_001364171.2
p.V24Splc
c.71-2A>C
NM_144577.4
p.M1_E2insFs
c.3_4insT
NM_001364171.2
p.L57Splc
c.170+1G>A