Papers
RefSeq ID
Protein change
DNA change
1–12 of 243 variants
NM_001197.5
p.L143_P149del0
c.428_445del18
NM_001197.5
p.S8insFs
c.23dupC
NM_001197.5
p.E67K
c.199G>A
NM_001197.5
p.L148del1
c.442_443delCTG
NM_001197.5
p.M1insFs
c.1dupA
NM_001197.5
p.M1insFs
c.2dupT
NM_001197.5
p.P6S
c.16C>T
NM_001197.5
p.D10H
c.28G>C
NM_001197.5
p.T15P
c.43A>C
NM_001197.5
p.T15S
c.44C>G
NM_001197.5
p.Q20*
c.58C>T
NM_001197.5
p.D38G
c.113A>G