Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_018023.5
p.G804del1
c.2410_2412delGGA
NM_018023.5
p.V268delFs
c.804delG
NM_018023.5
p.G814del1
c.2440_2441delGGC
NM_018023.5
p.V530I
c.1588G>A
NM_018023.5
p.G811_G813del0
c.2433_2438del6
NM_018023.5
p.G3V
c.8G>T
NM_018023.5
p.K5T
c.14A>C
NM_018023.5
p.E10fs
c.28_29fs
NM_018023.5
p.A34Splc
c.100+1G>T
NM_018023.5
p.D65N
c.193G>A
NM_018023.5
p.R72insFs
c.215dupG
NM_018023.5
p.R72G
c.214A>G