Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_001286123.3
p.I93F
c.277A>T
NM_001286123.3
p.M121delFs
c.361delT
NM_001286123.3
p.M121fs
c.361_362fs
NM_001286123.3
p.E245*
c.733G>T
NM_001286123.3
p.A277T
c.829G>A
NM_001286123.3
p.R17H
c.50G>A
NM_001286123.3
p.T30A
c.88A>G
NM_001286123.3
p.T33M
c.98C>T
NM_001286123.3
p.A44T
c.130G>A
NM_001286123.3
p.K75M
c.224A>T
NM_001286123.3
p.T79K
c.236C>A
NM_001286123.3
p.I107M
c.321C>G