Papers
RefSeq ID
Protein change
DNA change
1–12 of 284 variants
NM_020759.3
p.R588*
c.1762C>T
NM_020759.3
p.S1862_T1863del0
c.5584_5589del6
NM_020759.3
p.L3902P
c.11705T>C
NM_020759.3
p.N240S
c.719A>G
NM_020759.3
p.R552L
c.1655G>T
NM_020759.3
p.Q590_V591Splc
c.1771-2A>T
NM_020759.3
p.T826M
c.2477C>T
NM_020759.3
p.C1114R
c.3340T>C
NM_020759.3
p.R1172C
c.3514C>T
NM_020759.3
p.T1390M
c.4169C>T
NM_020759.3
p.P2442R
c.7325C>G
NM_020759.3
p.V2821L
c.8461G>C