Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112841965T>CCA16035282APCc.6425T>C (p.Leu2142Ser)
c.*6377T>C (n.*6377T>C)
c.6317T>C (p.Leu2106Ser)
c.6371T>C (p.Leu2124Ser)
c.*5693T>C (n.*5693T>C)
c.230+12993T>C
c.6401T>C (p.Leu2134Ser)
c.6296T>C (p.Leu2099Ser)
c.6287T>C (p.Leu2096Ser)
c.6248T>C (p.Leu2083Ser)
c.6194T>C (p.Leu2065Ser)
c.6098T>C (p.Leu2033Ser)
c.6068T>C (p.Leu2023Ser)
c.5993T>C (p.Leu1998Ser)
c.5891T>C (p.Leu1964Ser)
c.5522T>C (p.Leu1841Ser)
dbSNP
5g.112841965T>ACA16035281APCc.6425T>A (p.Leu2142Ter)
c.*6377T>A (n.*6377T>A)
c.6317T>A (p.Leu2106Ter)
c.6371T>A (p.Leu2124Ter)
c.*5693T>A (n.*5693T>A)
c.230+12993T>A
c.6401T>A (p.Leu2134Ter)
c.6296T>A (p.Leu2099Ter)
c.6287T>A (p.Leu2096Ter)
c.6248T>A (p.Leu2083Ter)
c.6194T>A (p.Leu2065Ter)
c.6098T>A (p.Leu2033Ter)
c.6068T>A (p.Leu2023Ter)
c.5993T>A (p.Leu1998Ter)
c.5891T>A (p.Leu1964Ter)
c.5522T>A (p.Leu1841Ter)
ClinVar dbSNP

Number of alleles fetched