Papers
RefSeq ID
Protein change
DNA change
1–12 of 158 variants
NM_194318.4
p.E220_I221Splc
c.660+1G>A
NM_194318.4
p.E370K
c.1108G>A
NM_194318.4
p.G393E
c.1178G>A
NM_194318.4
p.L77insFs
c.230_231insT
NM_194318.4
p.H116Splc
c.347+5G>A
NM_194318.4
p.K153_E154Splc
c.459+1G>A
NM_194318.4
p.K199Splc
c.597-2A>G
NM_194318.4
p.Y366*
c.1098T>A
NM_194318.4
p.Y366*
c.1098T>G
NM_194318.4
p.D349N
c.1045G>A
NM_194318.4
p.S355Splc
c.1065-1G>A
NM_194318.4
p.G394E
c.1181G>A