Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.49621952_49621956delinsCCAGACA2135804753MGAT2c.684_688delinsCCAGA (p.Ser228=)
14g.49621953C>ACA389619894MGAT2c.685C>A (p.Gln229Lys)
14g.49621953C>GCA389619897MGAT2c.685C>G (p.Gln229Glu)
14g.49621953C>TCA389619898MGAT2c.685C>T (p.Gln229Ter)
14g.49621954_49621957delCA2135804754MGAT2c.686_689del (p.Gln229ProfsTer16)
dbSNP
14g.49621954A=CA2135804755MGAT2c.686A= (p.Gln229=)
14g.49621954A>CCA389619901MGAT2c.686A>C (p.Gln229Pro)
14g.49621954A>GCA389619905MGAT2c.686A>G (p.Gln229Arg)
dbSNP gnomAD v2 gnomAD v4
14g.49621954A>TCA389619903MGAT2c.686A>T (p.Gln229Leu)
14g.49621955G>ACA486349762MGAT2c.687G>A (p.Gln229=)
14g.49621955G>CCA389619907MGAT2c.687G>C (p.Gln229His)
gnomAD v4
14g.49621955G=CA2135804756MGAT2c.687G= (p.Gln229=)
14g.49621955G>TCA389619910MGAT2c.687G>T (p.Gln229His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.49621956A=CA2135804757MGAT2c.688A= (p.Thr230=)
14g.49621956A>CCA389619912MGAT2c.688A>C (p.Thr230Pro)
ClinVar dbSNP gnomAD v4
14g.49621956A>GCA389619914MGAT2c.688A>G (p.Thr230Ala)
14g.49621956A>TCA389619917MGAT2c.688A>T (p.Thr230Ser)
14g.49621957C>ACA389619920MGAT2c.689C>A (p.Thr230Asn)
14g.49621957C>GCA389619922MGAT2c.689C>G (p.Thr230Ser)
14g.49621957C>TCA389619924MGAT2c.689C>T (p.Thr230Ile)
14g.49621958C>ACA486349770MGAT2c.690C>A (p.Thr230=)
14g.49621958C>GCA486349771MGAT2c.690C>G (p.Thr230=)
14g.49621958C>TCA486349769MGAT2c.690C>T (p.Thr230=)
14g.49621959A>CCA389619929MGAT2c.691A>C (p.Lys231Gln)
14g.49621959A>GCA389619931MGAT2c.691A>G (p.Lys231Glu)
14g.49621959A>TCA389619927MGAT2c.691A>T (p.Lys231Ter)
14g.49621961dupCA486349772MGAT2c.693dup (p.His232ThrfsTer?)
COSMIC
14g.49621960A>CCA389619934MGAT2c.692A>C (p.Lys231Thr)
14g.49621960A>GCA389619936MGAT2c.692A>G (p.Lys231Arg)
14g.49621960A>TCA389619939MGAT2c.692A>T (p.Lys231Ile)
14g.49621961A>CCA389619941MGAT2c.693A>C (p.Lys231Asn)
14g.49621961A>GCA486349775MGAT2c.693A>G (p.Lys231=)
14g.49621961A>TCA389619942MGAT2c.693A>T (p.Lys231Asn)
14g.49621962C>ACA389619948MGAT2c.694C>A (p.His232Asn)
14g.49621962C>GCA389619944MGAT2c.694C>G (p.His232Asp)
14g.49621962C>TCA389619945MGAT2c.694C>T (p.His232Tyr)
gnomAD v3 gnomAD v4
14g.49621963A=CA2135804758MGAT2c.695A= (p.His232=)
14g.49621963A>CCA389619950MGAT2c.695A>C (p.His232Pro)
COSMIC
14g.49621963A>GCA389619952MGAT2c.695A>G (p.His232Arg)
dbSNP gnomAD v2
14g.49621963A>TCA389619953MGAT2c.695A>T (p.His232Leu)
14g.49621964T>ACA389619954MGAT2c.696T>A (p.His232Gln)
14g.49621964T>CCA486349779MGAT2c.696T>C (p.His232=)
14g.49621964T>GCA389619956MGAT2c.696T>G (p.His232Gln)
14g.49621965C>ACA389619958MGAT2c.697C>A (p.His233Asn)
14g.49621965C>GCA389619963MGAT2c.697C>G (p.His233Asp)
14g.49621965C>TCA389619960MGAT2c.697C>T (p.His233Tyr)
14g.49621966A=CA2135804759MGAT2c.698A= (p.His233=)
14g.49621966A>CCA389619965MGAT2c.698A>C (p.His233Pro)
14g.49621966A>GCA260660763MGAT2c.698A>G (p.His233Arg)
dbSNP gnomAD v3 gnomAD v4
14g.49621966A>TCA389619969MGAT2c.698A>T (p.His233Leu)

Number of alleles fetched