Papers
RefSeq ID
Protein change
DNA change
1–12 of 212 variants
NM_001145128.3
p.E703_A704del1
c.2108_2110delCTT
NM_001145128.3
p.P815S
c.2443C>T
NM_001145128.3
p.R1299Q
c.3896G>A
NM_001145128.3
p.D739V
c.2216A>T
NM_001145128.3
p.V1555I
c.4663G>A
NM_001145128.3
p.D177Y
c.529G>T
NM_001145128.3
p.G111Splc
c.332-14A>G
NM_001145128.3
p.E203_E205del0
c.607_615del9
NM_001145128.3
p.E235delFs
c.703_704delTC
NM_001145128.3
p.E700K
c.2098G>A
NM_001145128.3
p.E703_A704del2
c.2107_2111del6
NM_001145128.3
p.V727L
c.2179G>T