Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73171022T>ACA224995PSEN1c.313T>A (p.Phe105Ile)
c.301T>A (p.Phe101Ile)
c.37T>A (p.Phe13Ile)
n.313T>A (p.Phe105Ile)
n.301T>A (p.Phe101Ile)
c.*257T>A (n.*257T>A)
ClinVar dbSNP
14g.73171022T>CCA390303576PSEN1c.313T>C (p.Phe105Leu)
c.301T>C (p.Phe101Leu)
c.37T>C (p.Phe13Leu)
n.313T>C (p.Phe105Leu)
n.301T>C (p.Phe101Leu)
c.*257T>C (n.*257T>C)
14g.73171022T>GCA390303574PSEN1c.313T>G (p.Phe105Val)
c.301T>G (p.Phe101Val)
c.37T>G (p.Phe13Val)
n.313T>G (p.Phe105Val)
n.301T>G (p.Phe101Val)
c.*257T>G (n.*257T>G)
14g.73171022T=CA2146469722PSEN1c.313T= (p.Phe105=)
c.301T= (p.Phe101=)
c.37T= (p.Phe13=)
n.313T= (p.Phe105=)
n.301T= (p.Phe101=)
c.*257T= (n.*257T=)
14g.73171023T>ACA390303578PSEN1c.314T>A (p.Phe105Tyr)
c.302T>A (p.Phe101Tyr)
c.38T>A (p.Phe13Tyr)
n.314T>A (p.Phe105Tyr)
n.302T>A (p.Phe101Tyr)
c.*258T>A (n.*258T>A)
14g.73171023T>CCA390303582PSEN1c.314T>C (p.Phe105Ser)
c.302T>C (p.Phe101Ser)
c.38T>C (p.Phe13Ser)
n.314T>C (p.Phe105Ser)
n.302T>C (p.Phe101Ser)
c.*258T>C (n.*258T>C)
14g.73171023T>GCA16043483PSEN1c.314T>G (p.Phe105Cys)
c.302T>G (p.Phe101Cys)
c.38T>G (p.Phe13Cys)
n.314T>G (p.Phe105Cys)
n.302T>G (p.Phe101Cys)
c.*258T>G (n.*258T>G)
ClinVar
14g.73171023T=CA2146469723PSEN1c.314T= (p.Phe105=)
c.302T= (p.Phe101=)
c.38T= (p.Phe13=)
n.314T= (p.Phe105=)
n.302T= (p.Phe101=)
c.*258T= (n.*258T=)
14g.73171024T>ACA390303586PSEN1c.315T>A (p.Phe105Leu)
c.303T>A (p.Phe101Leu)
c.39T>A (p.Phe13Leu)
n.315T>A (p.Phe105Leu)
n.303T>A (p.Phe101Leu)
c.*259T>A (n.*259T>A)
14g.73171024T>CCA487255933PSEN1c.315T>C (p.Phe105=)
c.303T>C (p.Phe101=)
c.39T>C (p.Phe13=)
n.315T>C (p.Phe105=)
n.303T>C (p.Phe101=)
c.*259T>C (n.*259T>C)
14g.73171024T>GCA224997PSEN1c.315T>G (p.Phe105Leu)
c.303T>G (p.Phe101Leu)
c.39T>G (p.Phe13Leu)
n.315T>G (p.Phe105Leu)
n.303T>G (p.Phe101Leu)
c.*259T>G (n.*259T>G)
ClinVar dbSNP gnomAD
14g.73171024T=CA2146469724PSEN1c.315T= (p.Phe105=)
c.303T= (p.Phe101=)
c.39T= (p.Phe13=)
n.315T= (p.Phe105=)
n.303T= (p.Phe101=)
c.*259T= (n.*259T=)
14g.73171025T>ACA390303589PSEN1c.316T>A (p.Tyr106Asn)
c.304T>A (p.Tyr102Asn)
c.40T>A (p.Tyr14Asn)
n.316T>A (p.Tyr106Asn)
n.304T>A (p.Tyr102Asn)
c.*260T>A (n.*260T>A)
14g.73171025T>CCA390303592PSEN1c.316T>C (p.Tyr106His)
c.304T>C (p.Tyr102His)
c.40T>C (p.Tyr14His)
n.316T>C (p.Tyr106His)
n.304T>C (p.Tyr102His)
c.*260T>C (n.*260T>C)
14g.73171025T>GCA390303594PSEN1c.316T>G (p.Tyr106Asp)
c.304T>G (p.Tyr102Asp)
c.40T>G (p.Tyr14Asp)
n.316T>G (p.Tyr106Asp)
n.304T>G (p.Tyr102Asp)
c.*260T>G (n.*260T>G)
14g.73171026A>CCA390303599PSEN1c.317A>C (p.Tyr106Ser)
c.305A>C (p.Tyr102Ser)
c.41A>C (p.Tyr14Ser)
n.317A>C (p.Tyr106Ser)
n.305A>C (p.Tyr102Ser)
c.*261A>C (n.*261A>C)
14g.73171026A>GCA390303601PSEN1c.317A>G (p.Tyr106Cys)
c.305A>G (p.Tyr102Cys)
c.41A>G (p.Tyr14Cys)
n.317A>G (p.Tyr106Cys)
n.305A>G (p.Tyr102Cys)
c.*261A>G (n.*261A>G)
14g.73171026A>TCA390303603PSEN1c.317A>T (p.Tyr106Phe)
c.305A>T (p.Tyr102Phe)
c.41A>T (p.Tyr14Phe)
n.317A>T (p.Tyr106Phe)
n.305A>T (p.Tyr102Phe)
c.*261A>T (n.*261A>T)
14g.73171027T>ACA390303607PSEN1c.318T>A (p.Tyr106Ter)
c.306T>A (p.Tyr102Ter)
c.42T>A (p.Tyr14Ter)
n.318T>A (p.Tyr106Ter)
n.306T>A (p.Tyr102Ter)
c.*262T>A (n.*262T>A)
14g.73171027T>CCA487255934PSEN1c.318T>C (p.Tyr106=)
c.306T>C (p.Tyr102=)
c.42T>C (p.Tyr14=)
n.318T>C (p.Tyr106=)
n.306T>C (p.Tyr102=)
c.*262T>C (n.*262T>C)
gnomAD
14g.73171027T>GCA390303608PSEN1c.318T>G (p.Tyr106Ter)
c.306T>G (p.Tyr102Ter)
c.42T>G (p.Tyr14Ter)
n.318T>G (p.Tyr106Ter)
n.306T>G (p.Tyr102Ter)
c.*262T>G (n.*262T>G)
14g.73171027T=CA2146469725PSEN1c.318T= (p.Tyr106=)
c.306T= (p.Tyr102=)
c.42T= (p.Tyr14=)
n.318T= (p.Tyr106=)
n.306T= (p.Tyr102=)
c.*262T= (n.*262T=)
14g.73171028A>CCA390303611PSEN1c.319A>C (p.Thr107Pro)
c.307A>C (p.Thr103Pro)
c.43A>C (p.Thr15Pro)
n.319A>C (p.Thr107Pro)
n.307A>C (p.Thr103Pro)
c.*263A>C (n.*263A>C)
14g.73171028A>GCA390303613PSEN1c.319A>G (p.Thr107Ala)
c.307A>G (p.Thr103Ala)
c.43A>G (p.Thr15Ala)
n.319A>G (p.Thr107Ala)
n.307A>G (p.Thr103Ala)
c.*263A>G (n.*263A>G)
14g.73171028A>TCA390303615PSEN1c.319A>T (p.Thr107Ser)
c.307A>T (p.Thr103Ser)
c.43A>T (p.Thr15Ser)
n.319A>T (p.Thr107Ser)
n.307A>T (p.Thr103Ser)
c.*263A>T (n.*263A>T)
14g.73171029C>ACA390303621PSEN1c.320C>A (p.Thr107Asn)
c.308C>A (p.Thr103Asn)
c.44C>A (p.Thr15Asn)
n.320C>A (p.Thr107Asn)
n.308C>A (p.Thr103Asn)
c.*264C>A (n.*264C>A)
14g.73171029C>GCA390303619PSEN1c.320C>G (p.Thr107Ser)
c.308C>G (p.Thr103Ser)
c.44C>G (p.Thr15Ser)
n.320C>G (p.Thr107Ser)
n.308C>G (p.Thr103Ser)
c.*264C>G (n.*264C>G)
14g.73171029C>TCA390303620PSEN1c.320C>T (p.Thr107Ile)
c.308C>T (p.Thr103Ile)
c.44C>T (p.Thr15Ile)
n.320C>T (p.Thr107Ile)
n.308C>T (p.Thr103Ile)
c.*264C>T (n.*264C>T)
14g.73171030C>ACA487255936PSEN1c.321C>A (p.Thr107=)
c.309C>A (p.Thr103=)
c.45C>A (p.Thr15=)
n.321C>A (p.Thr107=)
n.309C>A (p.Thr103=)
c.*265C>A (n.*265C>A)
14g.73171030C=CA2146469726PSEN1c.321C= (p.Thr107=)
c.309C= (p.Thr103=)
c.45C= (p.Thr15=)
n.321C= (p.Thr107=)
n.309C= (p.Thr103=)
c.*265C= (n.*265C=)
14g.73171030C>GCA7256708PSEN1c.321C>G (p.Thr107=)
c.309C>G (p.Thr103=)
c.45C>G (p.Thr15=)
n.321C>G (p.Thr107=)
n.309C>G (p.Thr103=)
c.*265C>G (n.*265C>G)
ClinVar dbSNP ExAC gnomAD
14g.73171030C>TCA487255935PSEN1c.321C>T (p.Thr107=)
c.309C>T (p.Thr103=)
c.45C>T (p.Thr15=)
n.321C>T (p.Thr107=)
n.309C>T (p.Thr103=)
c.*265C>T (n.*265C>T)
gnomAD
14g.73171031C>ACA487255937PSEN1c.322C>A (p.Arg108=)
c.310C>A (p.Arg104=)
c.46C>A (p.Arg16=)
n.322C>A (p.Arg108=)
n.310C>A (p.Arg104=)
c.*266C>A (n.*266C>A)
14g.73171031C=CA2146469727PSEN1c.322C= (p.Arg108=)
c.310C= (p.Arg104=)
c.46C= (p.Arg16=)
n.322C= (p.Arg108=)
n.310C= (p.Arg104=)
c.*266C= (n.*266C=)
14g.73171031C>GCA390303624PSEN1c.322C>G (p.Arg108Gly)
c.310C>G (p.Arg104Gly)
c.46C>G (p.Arg16Gly)
n.322C>G (p.Arg108Gly)
n.310C>G (p.Arg104Gly)
c.*266C>G (n.*266C>G)
14g.73171031C>TCA237495PSEN1c.322C>T (p.Arg108Trp)
c.310C>T (p.Arg104Trp)
c.46C>T (p.Arg16Trp)
n.322C>T (p.Arg108Trp)
n.310C>T (p.Arg104Trp)
c.*266C>T (n.*266C>T)
ClinVar dbSNP
14g.73171032G>ACA7256709PSEN1c.323G>A (p.Arg108Gln)
c.311G>A (p.Arg104Gln)
c.47G>A (p.Arg16Gln)
n.323G>A (p.Arg108Gln)
n.311G>A (p.Arg104Gln)
c.*267G>A (n.*267G>A)
dbSNP ExAC gnomAD
14g.73171032G>CCA390303630PSEN1c.323G>C (p.Arg108Pro)
c.311G>C (p.Arg104Pro)
c.47G>C (p.Arg16Pro)
n.323G>C (p.Arg108Pro)
n.311G>C (p.Arg104Pro)
c.*267G>C (n.*267G>C)
14g.73171032G=CA2146469728PSEN1c.323G= (p.Arg108=)
c.311G= (p.Arg104=)
c.47G= (p.Arg16=)
n.323G= (p.Arg108=)
n.311G= (p.Arg104=)
c.*267G= (n.*267G=)
14g.73171032G>TCA390303632PSEN1c.323G>T (p.Arg108Leu)
c.311G>T (p.Arg104Leu)
c.47G>T (p.Arg16Leu)
n.323G>T (p.Arg108Leu)
n.311G>T (p.Arg104Leu)
c.*267G>T (n.*267G>T)
14g.73171033G>ACA487255938PSEN1c.324G>A (p.Arg108=)
c.312G>A (p.Arg104=)
c.48G>A (p.Arg16=)
n.324G>A (p.Arg108=)
n.312G>A (p.Arg104=)
c.*268G>A (n.*268G>A)
14g.73171033G>CCA487255939PSEN1c.324G>C (p.Arg108=)
c.312G>C (p.Arg104=)
c.48G>C (p.Arg16=)
n.324G>C (p.Arg108=)
n.312G>C (p.Arg104=)
c.*268G>C (n.*268G>C)
14g.73171033G>TCA487255940PSEN1c.324G>T (p.Arg108=)
c.312G>T (p.Arg104=)
c.48G>T (p.Arg16=)
n.324G>T (p.Arg108=)
n.312G>T (p.Arg104=)
c.*268G>T (n.*268G>T)
14g.73171034A>CCA390303633PSEN1c.325A>C (p.Lys109Gln)
c.313A>C (p.Lys105Gln)
c.49A>C (p.Lys17Gln)
n.325A>C (p.Lys109Gln)
n.313A>C (p.Lys105Gln)
c.*269A>C (n.*269A>C)
14g.73171034A>GCA390303634PSEN1c.325A>G (p.Lys109Glu)
c.313A>G (p.Lys105Glu)
c.49A>G (p.Lys17Glu)
n.325A>G (p.Lys109Glu)
n.313A>G (p.Lys105Glu)
c.*269A>G (n.*269A>G)
14g.73171034A>TCA390303635PSEN1c.325A>T (p.Lys109Ter)
c.313A>T (p.Lys105Ter)
c.49A>T (p.Lys17Ter)
n.325A>T (p.Lys109Ter)
n.313A>T (p.Lys105Ter)
c.*269A>T (n.*269A>T)
14g.73171035A>CCA390303636PSEN1c.326A>C (p.Lys109Thr)
c.314A>C (p.Lys105Thr)
c.50A>C (p.Lys17Thr)
n.326A>C (p.Lys109Thr)
n.314A>C (p.Lys105Thr)
c.*270A>C (n.*270A>C)
14g.73171035A>GCA390303638PSEN1c.326A>G (p.Lys109Arg)
c.314A>G (p.Lys105Arg)
c.50A>G (p.Lys17Arg)
n.326A>G (p.Lys109Arg)
n.314A>G (p.Lys105Arg)
c.*270A>G (n.*270A>G)
14g.73171035A>TCA390303640PSEN1c.326A>T (p.Lys109Met)
c.314A>T (p.Lys105Met)
c.50A>T (p.Lys17Met)
n.326A>T (p.Lys109Met)
n.314A>T (p.Lys105Met)
c.*270A>T (n.*270A>T)
14g.73171036G>ACA487255941PSEN1c.327G>A (p.Lys109=)
c.315G>A (p.Lys105=)
c.51G>A (p.Lys17=)
n.327G>A (p.Lys109=)
n.315G>A (p.Lys105=)
c.*271G>A (n.*271G>A)

Number of alleles fetched