Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_004691.5
p.D44Splc
c.131-1G>A
Surrounding Variants
NM_004691.5
p.L47L
c.139C>T
NM_004691.5
p.Q50R
c.149A>G
NM_004691.5
p.S51S
c.153C>T
NM_004691.5
p.D53D
c.159T>C
NM_004691.5
p.Y54N
c.160T>A
NM_004691.5
p.G55R
c.163G>C
NM_004691.5
p.G55delFs
c.165delA
NM_004691.5
p.N56delFs
c.168delG
NM_004691.5
p.A62T
c.184G>A
NM_004691.5
p.V69V
c.207C>G
NM_004691.5
p.I70delFs
c.210delG
NM_004691.5
p.R73L
c.218G>T