Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_002096.3
p.K251del1
c.751_753delCTT
NM_002096.3
p.S279Splc
c.837-2A>G
NM_002096.3
p.E326del1
c.976_978delCTC
NM_002096.3
p.K109delFs
c.326delT
NM_002096.3
p.A238V
c.713C>T
NM_002096.3
p.G277S
c.829G>A
NM_002096.3
p.G443V
c.1328G>T
NM_002096.3
p.A2E
c.5C>A
NM_002096.3
p.P6P
c.18T>A
NM_002096.3
p.N10S
c.29A>G
NM_002096.3
p.T12A
c.34A>G
NM_002096.3
p.R17G
c.49C>G