Papers
RefSeq ID
Protein change
DNA change
1–12 of 255 variants
NM_004429.5
p.P54L
c.161C>T
NM_004429.5
p.G151S
c.451G>A
NM_004429.5
p.R66*
c.196C>T
NM_004429.5
p.L50_V51del1
c.149_151delTGG
NM_004429.5
p.G10G
c.30C>T
NM_004429.5
p.S136Splc
c.407-2A>G
NM_004429.5
p.S136Splc
c.407-2A>T
NM_004429.5
p.S205delFs
c.614_615delCT
NM_004429.5
p.W37G
c.109T>G
NM_004429.5
p.F126_K128delFs
c.377_384del8
NM_004429.5
p.S136Splc
c.407-1G>A
NM_004429.5
p.T137A
c.409A>G