Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116783359T>GCA368991595METc.*1293T>G (n.*1293T>G)
c.3742T>G (p.Tyr1248Asp)
c.3688T>G (p.Tyr1230Asp)
c.2398T>G (p.Tyr800Asp)
c.3745T>G (p.Tyr1249Asp)
n.3819T>G
ClinVar dbSNP gnomAD v4
7g.116783359T>CCA241164METc.*1293T>C (n.*1293T>C)
c.3742T>C (p.Tyr1248His)
c.3688T>C (p.Tyr1230His)
c.2398T>C (p.Tyr800His)
c.3745T>C (p.Tyr1249His)
n.3819T>C
ClinVar dbSNP COSMIC
7g.116783359T>ACA368991593METc.*1293T>A (n.*1293T>A)
c.3742T>A (p.Tyr1248Asn)
c.3688T>A (p.Tyr1230Asn)
c.2398T>A (p.Tyr800Asn)
c.3745T>A (p.Tyr1249Asn)
n.3819T>A
dbSNP

Number of alleles fetched