Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73173584A=CA2146470993PSEN1c.357A= (p.Thr119=)
c.345A= (p.Thr115=)
c.81A= (p.Thr27=)
c.*301A= (n.*301A=)
14g.73173584A>CCA487097967PSEN1c.357A>C (p.Thr119=)
c.345A>C (p.Thr115=)
c.81A>C (p.Thr27=)
c.*301A>C (n.*301A>C)
14g.73173584A>GCA487097969PSEN1c.357A>G (p.Thr119=)
c.345A>G (p.Thr115=)
c.81A>G (p.Thr27=)
c.*301A>G (n.*301A>G)
gnomAD v3 gnomAD v4
14g.73173584A>TCA487097970PSEN1c.357A>T (p.Thr119=)
c.345A>T (p.Thr115=)
c.81A>T (p.Thr27=)
c.*301A>T (n.*301A>T)
14g.73173585G>ACA225008PSEN1c.358G>A (p.Glu120Lys)
c.346G>A (p.Glu116Lys)
c.82G>A (p.Glu28Lys)
c.*302G>A (n.*302G>A)
ClinVar dbSNP
14g.73173585G>CCA390304712PSEN1c.358G>C (p.Glu120Gln)
c.346G>C (p.Glu116Gln)
c.82G>C (p.Glu28Gln)
c.*302G>C (n.*302G>C)
14g.73173585G=CA2146470997PSEN1c.358G= (p.Glu120=)
c.346G= (p.Glu116=)
c.82G= (p.Glu28=)
c.*302G= (n.*302G=)
14g.73173585G>TCA390304714PSEN1c.358G>T (p.Glu120Ter)
c.346G>T (p.Glu116Ter)
c.82G>T (p.Glu28Ter)
c.*302G>T (n.*302G>T)
14g.73173586A=CA2146471003PSEN1c.359A= (p.Glu120=)
c.347A= (p.Glu116=)
c.83A= (p.Glu28=)
c.*303A= (n.*303A=)
14g.73173586A>CCA390304716PSEN1c.359A>C (p.Glu120Ala)
c.347A>C (p.Glu116Ala)
c.83A>C (p.Glu28Ala)
c.*303A>C (n.*303A>C)
14g.73173586A>GCA390304718PSEN1c.359A>G (p.Glu120Gly)
c.347A>G (p.Glu116Gly)
c.83A>G (p.Glu28Gly)
c.*303A>G (n.*303A>G)
14g.73173586A>TCA390304720PSEN1c.359A>T (p.Glu120Val)
c.347A>T (p.Glu116Val)
c.83A>T (p.Glu28Val)
c.*303A>T (n.*303A>T)
14g.73173587A=CA2146471011PSEN1c.360A= (p.Glu120=)
c.348A= (p.Glu116=)
c.84A= (p.Glu28=)
c.*304A= (n.*304A=)
14g.73173587A>CCA390304722PSEN1c.360A>C (p.Glu120Asp)
c.348A>C (p.Glu116Asp)
c.84A>C (p.Glu28Asp)
c.*304A>C (n.*304A>C)
14g.73173587A>GCA487097976PSEN1c.360A>G (p.Glu120=)
c.348A>G (p.Glu116=)
c.84A>G (p.Glu28=)
c.*304A>G (n.*304A>G)
14g.73173587A>TCA225009PSEN1c.360A>T (p.Glu120Asp)
c.348A>T (p.Glu116Asp)
c.84A>T (p.Glu28Asp)
c.*304A>T (n.*304A>T)
ClinVar dbSNP
14g.73173588G>ACA390304728PSEN1c.361G>A (p.Asp121Asn)
c.349G>A (p.Asp117Asn)
c.85G>A (p.Asp29Asn)
c.*305G>A (n.*305G>A)
14g.73173588G>CCA390304726PSEN1c.361G>C (p.Asp121His)
c.349G>C (p.Asp117His)
c.85G>C (p.Asp29His)
c.*305G>C (n.*305G>C)
14g.73173588G>TCA390304725PSEN1c.361G>T (p.Asp121Tyr)
c.349G>T (p.Asp117Tyr)
c.85G>T (p.Asp29Tyr)
c.*305G>T (n.*305G>T)
14g.73173589A>CCA390304731PSEN1c.362A>C (p.Asp121Ala)
c.350A>C (p.Asp117Ala)
c.86A>C (p.Asp29Ala)
c.*306A>C (n.*306A>C)
14g.73173589A>GCA390304734PSEN1c.362A>G (p.Asp121Gly)
c.350A>G (p.Asp117Gly)
c.86A>G (p.Asp29Gly)
c.*306A>G (n.*306A>G)
14g.73173589A>TCA390304732PSEN1c.362A>T (p.Asp121Val)
c.350A>T (p.Asp117Val)
c.86A>T (p.Asp29Val)
c.*306A>T (n.*306A>T)
14g.73173590T>ACA390304736PSEN1c.363T>A (p.Asp121Glu)
c.351T>A (p.Asp117Glu)
c.87T>A (p.Asp29Glu)
c.*307T>A (n.*307T>A)
14g.73173590T>CCA487097977PSEN1c.363T>C (p.Asp121=)
c.351T>C (p.Asp117=)
c.87T>C (p.Asp29=)
c.*307T>C (n.*307T>C)
gnomAD v4
14g.73173590T>GCA390304738PSEN1c.363T>G (p.Asp121Glu)
c.351T>G (p.Asp117Glu)
c.87T>G (p.Asp29Glu)
c.*307T>G (n.*307T>G)
14g.73173591A=CA2146471014PSEN1c.364A= (p.Thr122=)
c.352A= (p.Thr118=)
c.88A= (p.Thr30=)
c.*308A= (n.*308A=)
14g.73173591A>CCA390304740PSEN1c.364A>C (p.Thr122Pro)
c.352A>C (p.Thr118Pro)
c.88A>C (p.Thr30Pro)
c.*308A>C (n.*308A>C)
14g.73173591A>GCA390304742PSEN1c.364A>G (p.Thr122Ala)
c.352A>G (p.Thr118Ala)
c.88A>G (p.Thr30Ala)
c.*308A>G (n.*308A>G)
ClinVar
14g.73173591A>TCA390304744PSEN1c.364A>T (p.Thr122Ser)
c.352A>T (p.Thr118Ser)
c.88A>T (p.Thr30Ser)
c.*308A>T (n.*308A>T)
gnomAD v4
14g.73173592C>ACA390304746PSEN1c.365C>A (p.Thr122Asn)
c.353C>A (p.Thr118Asn)
c.89C>A (p.Thr30Asn)
c.*309C>A (n.*309C>A)
gnomAD v4
14g.73173592C>GCA390304747PSEN1c.365C>G (p.Thr122Ser)
c.353C>G (p.Thr118Ser)
c.89C>G (p.Thr30Ser)
c.*309C>G (n.*309C>G)
14g.73173592C>TCA390304750PSEN1c.365C>T (p.Thr122Ile)
c.353C>T (p.Thr118Ile)
c.89C>T (p.Thr30Ile)
c.*309C>T (n.*309C>T)
14g.73173593C>ACA487097978PSEN1c.366C>A (p.Thr122=)
c.354C>A (p.Thr118=)
c.90C>A (p.Thr30=)
c.*310C>A (n.*310C>A)
14g.73173593C=CA2146471022PSEN1c.366C= (p.Thr122=)
c.354C= (p.Thr118=)
c.90C= (p.Thr30=)
c.*310C= (n.*310C=)
14g.73173593C>GCA487097979PSEN1c.366C>G (p.Thr122=)
c.354C>G (p.Thr118=)
c.90C>G (p.Thr30=)
c.*310C>G (n.*310C>G)
14g.73173593C>TCA7256724PSEN1c.366C>T (p.Thr122=)
c.354C>T (p.Thr118=)
c.90C>T (p.Thr30=)
c.*310C>T (n.*310C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73173594G>ACA225010PSEN1c.367G>A (p.Glu123Lys)
c.355G>A (p.Glu119Lys)
c.91G>A (p.Glu31Lys)
c.*311G>A (n.*311G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.73173594G>CCA390304753PSEN1c.367G>C (p.Glu123Gln)
c.355G>C (p.Glu119Gln)
c.91G>C (p.Glu31Gln)
c.*311G>C (n.*311G>C)
ClinVar gnomAD v2 gnomAD v4
14g.73173594G=CA2146471028PSEN1c.367G= (p.Glu123=)
c.355G= (p.Glu119=)
c.91G= (p.Glu31=)
c.*311G= (n.*311G=)
14g.73173594G>TCA390304754PSEN1c.367G>T (p.Glu123Ter)
c.355G>T (p.Glu119Ter)
c.91G>T (p.Glu31Ter)
c.*311G>T (n.*311G>T)
14g.73173595A>CCA390304757PSEN1c.368A>C (p.Glu123Ala)
c.356A>C (p.Glu119Ala)
c.92A>C (p.Glu31Ala)
c.*312A>C (n.*312A>C)
14g.73173595A>GCA390304759PSEN1c.368A>G (p.Glu123Gly)
c.356A>G (p.Glu119Gly)
c.92A>G (p.Glu31Gly)
c.*312A>G (n.*312A>G)
14g.73173595A>TCA390304760PSEN1c.368A>T (p.Glu123Val)
c.356A>T (p.Glu119Val)
c.92A>T (p.Glu31Val)
c.*312A>T (n.*312A>T)
14g.73173596G>ACA487097980PSEN1c.369G>A (p.Glu123=)
c.357G>A (p.Glu119=)
c.93G>A (p.Glu31=)
c.*313G>A (n.*313G>A)
14g.73173596G>CCA390304763PSEN1c.369G>C (p.Glu123Asp)
c.357G>C (p.Glu119Asp)
c.93G>C (p.Glu31Asp)
c.*313G>C (n.*313G>C)
14g.73173596G>TCA390304765PSEN1c.369G>T (p.Glu123Asp)
c.357G>T (p.Glu119Asp)
c.93G>T (p.Glu31Asp)
c.*313G>T (n.*313G>T)
14g.73173597A=CA2146471033PSEN1c.370A= (p.Thr124=)
c.358A= (p.Thr120=)
c.94A= (p.Thr32=)
c.*314A= (n.*314A=)
14g.73173597A>CCA390304767PSEN1c.370A>C (p.Thr124Pro)
c.358A>C (p.Thr120Pro)
c.94A>C (p.Thr32Pro)
c.*314A>C (n.*314A>C)
14g.73173597A>GCA7256725PSEN1c.370A>G (p.Thr124Ala)
c.358A>G (p.Thr120Ala)
c.94A>G (p.Thr32Ala)
c.*314A>G (n.*314A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.73173597A>TCA390304768PSEN1c.370A>T (p.Thr124Ser)
c.358A>T (p.Thr120Ser)
c.94A>T (p.Thr32Ser)
c.*314A>T (n.*314A>T)

Number of alleles fetched