| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73173582A>C | CA390304702 | PSEN1 | c.355A>C (p.Thr119Pro) c.343A>C (p.Thr115Pro) c.79A>C (p.Thr27Pro) n.355A>C (p.Thr119Pro) n.343A>C (p.Thr115Pro) c.*299A>C (n.*299A>C) | |
| 14 | g.73173582A>G | CA390304705 | PSEN1 | c.355A>G (p.Thr119Ala) c.343A>G (p.Thr115Ala) c.79A>G (p.Thr27Ala) n.355A>G (p.Thr119Ala) n.343A>G (p.Thr115Ala) c.*299A>G (n.*299A>G) | |
| 14 | g.73173582A>T | CA390304704 | PSEN1 | c.355A>T (p.Thr119Ser) c.343A>T (p.Thr115Ser) c.79A>T (p.Thr27Ser) n.355A>T (p.Thr119Ser) n.343A>T (p.Thr115Ser) c.*299A>T (n.*299A>T) | |
| 14 | g.73173583C>A | CA390304707 | PSEN1 | c.356C>A (p.Thr119Lys) c.344C>A (p.Thr115Lys) c.80C>A (p.Thr27Lys) n.356C>A (p.Thr119Lys) n.344C>A (p.Thr115Lys) c.*300C>A (n.*300C>A) | |
| 14 | g.73173583C= | CA2146470989 | PSEN1 | c.356C= (p.Thr119=) c.344C= (p.Thr115=) c.80C= (p.Thr27=) n.356C= (p.Thr119=) n.344C= (p.Thr115=) c.*300C= (n.*300C=) | |
| 14 | g.73173583C>G | CA390304709 | PSEN1 | c.356C>G (p.Thr119Arg) c.344C>G (p.Thr115Arg) c.80C>G (p.Thr27Arg) n.356C>G (p.Thr119Arg) n.344C>G (p.Thr115Arg) c.*300C>G (n.*300C>G) | |
| 14 | g.73173583C>T | CA390304710 | PSEN1 | c.356C>T (p.Thr119Ile) c.344C>T (p.Thr115Ile) c.80C>T (p.Thr27Ile) n.356C>T (p.Thr119Ile) n.344C>T (p.Thr115Ile) c.*300C>T (n.*300C>T) | ClinVar |
| 14 | g.73173584A= | CA2146470993 | PSEN1 | c.357A= (p.Thr119=) c.345A= (p.Thr115=) c.81A= (p.Thr27=) n.357A= (p.Thr119=) n.345A= (p.Thr115=) c.*301A= (n.*301A=) | |
| 14 | g.73173584A>C | CA487097967 | PSEN1 | c.357A>C (p.Thr119=) c.345A>C (p.Thr115=) c.81A>C (p.Thr27=) n.357A>C (p.Thr119=) n.345A>C (p.Thr115=) c.*301A>C (n.*301A>C) | |
| 14 | g.73173584A>G | CA487097969 | PSEN1 | c.357A>G (p.Thr119=) c.345A>G (p.Thr115=) c.81A>G (p.Thr27=) n.357A>G (p.Thr119=) n.345A>G (p.Thr115=) c.*301A>G (n.*301A>G) | |
| 14 | g.73173584A>T | CA487097970 | PSEN1 | c.357A>T (p.Thr119=) c.345A>T (p.Thr115=) c.81A>T (p.Thr27=) n.357A>T (p.Thr119=) n.345A>T (p.Thr115=) c.*301A>T (n.*301A>T) | |
| 14 | g.73173585G>A | CA225008 | PSEN1 | c.358G>A (p.Glu120Lys) c.346G>A (p.Glu116Lys) c.82G>A (p.Glu28Lys) n.358G>A (p.Glu120Lys) n.346G>A (p.Glu116Lys) c.*302G>A (n.*302G>A) | ClinVar dbSNP |
| 14 | g.73173585G>C | CA390304712 | PSEN1 | c.358G>C (p.Glu120Gln) c.346G>C (p.Glu116Gln) c.82G>C (p.Glu28Gln) n.358G>C (p.Glu120Gln) n.346G>C (p.Glu116Gln) c.*302G>C (n.*302G>C) | |
| 14 | g.73173585G= | CA2146470997 | PSEN1 | c.358G= (p.Glu120=) c.346G= (p.Glu116=) c.82G= (p.Glu28=) n.358G= (p.Glu120=) n.346G= (p.Glu116=) c.*302G= (n.*302G=) | |
| 14 | g.73173585G>T | CA390304714 | PSEN1 | c.358G>T (p.Glu120Ter) c.346G>T (p.Glu116Ter) c.82G>T (p.Glu28Ter) n.358G>T (p.Glu120Ter) n.346G>T (p.Glu116Ter) c.*302G>T (n.*302G>T) | |
| 14 | g.73173586A= | CA2146471003 | PSEN1 | c.359A= (p.Glu120=) c.347A= (p.Glu116=) c.83A= (p.Glu28=) n.359A= (p.Glu120=) n.347A= (p.Glu116=) c.*303A= (n.*303A=) | |
| 14 | g.73173586A>C | CA390304716 | PSEN1 | c.359A>C (p.Glu120Ala) c.347A>C (p.Glu116Ala) c.83A>C (p.Glu28Ala) n.359A>C (p.Glu120Ala) n.347A>C (p.Glu116Ala) c.*303A>C (n.*303A>C) | |
| 14 | g.73173586A>G | CA390304718 | PSEN1 | c.359A>G (p.Glu120Gly) c.347A>G (p.Glu116Gly) c.83A>G (p.Glu28Gly) n.359A>G (p.Glu120Gly) n.347A>G (p.Glu116Gly) c.*303A>G (n.*303A>G) | |
| 14 | g.73173586A>T | CA390304720 | PSEN1 | c.359A>T (p.Glu120Val) c.347A>T (p.Glu116Val) c.83A>T (p.Glu28Val) n.359A>T (p.Glu120Val) n.347A>T (p.Glu116Val) c.*303A>T (n.*303A>T) | |
| 14 | g.73173587A= | CA2146471011 | PSEN1 | c.360A= (p.Glu120=) c.348A= (p.Glu116=) c.84A= (p.Glu28=) n.360A= (p.Glu120=) n.348A= (p.Glu116=) c.*304A= (n.*304A=) | |
| 14 | g.73173587A>C | CA390304722 | PSEN1 | c.360A>C (p.Glu120Asp) c.348A>C (p.Glu116Asp) c.84A>C (p.Glu28Asp) n.360A>C (p.Glu120Asp) n.348A>C (p.Glu116Asp) c.*304A>C (n.*304A>C) | |
| 14 | g.73173587A>G | CA487097976 | PSEN1 | c.360A>G (p.Glu120=) c.348A>G (p.Glu116=) c.84A>G (p.Glu28=) n.360A>G (p.Glu120=) n.348A>G (p.Glu116=) c.*304A>G (n.*304A>G) | |
| 14 | g.73173587A>T | CA225009 | PSEN1 | c.360A>T (p.Glu120Asp) c.348A>T (p.Glu116Asp) c.84A>T (p.Glu28Asp) n.360A>T (p.Glu120Asp) n.348A>T (p.Glu116Asp) c.*304A>T (n.*304A>T) | ClinVar dbSNP |
| 14 | g.73173588G>A | CA390304728 | PSEN1 | c.361G>A (p.Asp121Asn) c.349G>A (p.Asp117Asn) c.85G>A (p.Asp29Asn) n.361G>A (p.Asp121Asn) n.349G>A (p.Asp117Asn) c.*305G>A (n.*305G>A) | |
| 14 | g.73173588G>C | CA390304726 | PSEN1 | c.361G>C (p.Asp121His) c.349G>C (p.Asp117His) c.85G>C (p.Asp29His) n.361G>C (p.Asp121His) n.349G>C (p.Asp117His) c.*305G>C (n.*305G>C) | |
| 14 | g.73173588G>T | CA390304725 | PSEN1 | c.361G>T (p.Asp121Tyr) c.349G>T (p.Asp117Tyr) c.85G>T (p.Asp29Tyr) n.361G>T (p.Asp121Tyr) n.349G>T (p.Asp117Tyr) c.*305G>T (n.*305G>T) | |
| 14 | g.73173589A>C | CA390304731 | PSEN1 | c.362A>C (p.Asp121Ala) c.350A>C (p.Asp117Ala) c.86A>C (p.Asp29Ala) n.362A>C (p.Asp121Ala) n.350A>C (p.Asp117Ala) c.*306A>C (n.*306A>C) | |
| 14 | g.73173589A>G | CA390304734 | PSEN1 | c.362A>G (p.Asp121Gly) c.350A>G (p.Asp117Gly) c.86A>G (p.Asp29Gly) n.362A>G (p.Asp121Gly) n.350A>G (p.Asp117Gly) c.*306A>G (n.*306A>G) | |
| 14 | g.73173589A>T | CA390304732 | PSEN1 | c.362A>T (p.Asp121Val) c.350A>T (p.Asp117Val) c.86A>T (p.Asp29Val) n.362A>T (p.Asp121Val) n.350A>T (p.Asp117Val) c.*306A>T (n.*306A>T) | |
| 14 | g.73173590T>A | CA390304736 | PSEN1 | c.363T>A (p.Asp121Glu) c.351T>A (p.Asp117Glu) c.87T>A (p.Asp29Glu) n.363T>A (p.Asp121Glu) n.351T>A (p.Asp117Glu) c.*307T>A (n.*307T>A) | |
| 14 | g.73173590T>C | CA487097977 | PSEN1 | c.363T>C (p.Asp121=) c.351T>C (p.Asp117=) c.87T>C (p.Asp29=) n.363T>C (p.Asp121=) n.351T>C (p.Asp117=) c.*307T>C (n.*307T>C) | |
| 14 | g.73173590T>G | CA390304738 | PSEN1 | c.363T>G (p.Asp121Glu) c.351T>G (p.Asp117Glu) c.87T>G (p.Asp29Glu) n.363T>G (p.Asp121Glu) n.351T>G (p.Asp117Glu) c.*307T>G (n.*307T>G) | |
| 14 | g.73173591A= | CA2146471014 | PSEN1 | c.364A= (p.Thr122=) c.352A= (p.Thr118=) c.88A= (p.Thr30=) n.364A= (p.Thr122=) n.352A= (p.Thr118=) c.*308A= (n.*308A=) | |
| 14 | g.73173591A>C | CA390304740 | PSEN1 | c.364A>C (p.Thr122Pro) c.352A>C (p.Thr118Pro) c.88A>C (p.Thr30Pro) n.364A>C (p.Thr122Pro) n.352A>C (p.Thr118Pro) c.*308A>C (n.*308A>C) | |
| 14 | g.73173591A>G | CA390304742 | PSEN1 | c.364A>G (p.Thr122Ala) c.352A>G (p.Thr118Ala) c.88A>G (p.Thr30Ala) n.364A>G (p.Thr122Ala) n.352A>G (p.Thr118Ala) c.*308A>G (n.*308A>G) | ClinVar |
| 14 | g.73173591A>T | CA390304744 | PSEN1 | c.364A>T (p.Thr122Ser) c.352A>T (p.Thr118Ser) c.88A>T (p.Thr30Ser) n.364A>T (p.Thr122Ser) n.352A>T (p.Thr118Ser) c.*308A>T (n.*308A>T) | |
| 14 | g.73173592C>A | CA390304746 | PSEN1 | c.365C>A (p.Thr122Asn) c.353C>A (p.Thr118Asn) c.89C>A (p.Thr30Asn) n.365C>A (p.Thr122Asn) n.353C>A (p.Thr118Asn) c.*309C>A (n.*309C>A) | |
| 14 | g.73173592C>G | CA390304747 | PSEN1 | c.365C>G (p.Thr122Ser) c.353C>G (p.Thr118Ser) c.89C>G (p.Thr30Ser) n.365C>G (p.Thr122Ser) n.353C>G (p.Thr118Ser) c.*309C>G (n.*309C>G) | |
| 14 | g.73173592C>T | CA390304750 | PSEN1 | c.365C>T (p.Thr122Ile) c.353C>T (p.Thr118Ile) c.89C>T (p.Thr30Ile) n.365C>T (p.Thr122Ile) n.353C>T (p.Thr118Ile) c.*309C>T (n.*309C>T) | |
| 14 | g.73173593C>A | CA487097978 | PSEN1 | c.366C>A (p.Thr122=) c.354C>A (p.Thr118=) c.90C>A (p.Thr30=) n.366C>A (p.Thr122=) n.354C>A (p.Thr118=) c.*310C>A (n.*310C>A) | |
| 14 | g.73173593C= | CA2146471022 | PSEN1 | c.366C= (p.Thr122=) c.354C= (p.Thr118=) c.90C= (p.Thr30=) n.366C= (p.Thr122=) n.354C= (p.Thr118=) c.*310C= (n.*310C=) | |
| 14 | g.73173593C>G | CA487097979 | PSEN1 | c.366C>G (p.Thr122=) c.354C>G (p.Thr118=) c.90C>G (p.Thr30=) n.366C>G (p.Thr122=) n.354C>G (p.Thr118=) c.*310C>G (n.*310C>G) | |
| 14 | g.73173593C>T | CA7256724 | PSEN1 | c.366C>T (p.Thr122=) c.354C>T (p.Thr118=) c.90C>T (p.Thr30=) n.366C>T (p.Thr122=) n.354C>T (p.Thr118=) c.*310C>T (n.*310C>T) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.73173594G>A | CA225010 | PSEN1 | c.367G>A (p.Glu123Lys) c.355G>A (p.Glu119Lys) c.91G>A (p.Glu31Lys) n.367G>A (p.Glu123Lys) n.355G>A (p.Glu119Lys) c.*311G>A (n.*311G>A) | ClinVar dbSNP gnomAD |
| 14 | g.73173594G>C | CA390304753 | PSEN1 | c.367G>C (p.Glu123Gln) c.355G>C (p.Glu119Gln) c.91G>C (p.Glu31Gln) n.367G>C (p.Glu123Gln) n.355G>C (p.Glu119Gln) c.*311G>C (n.*311G>C) | ClinVar gnomAD |
| 14 | g.73173594G= | CA2146471028 | PSEN1 | c.367G= (p.Glu123=) c.355G= (p.Glu119=) c.91G= (p.Glu31=) n.367G= (p.Glu123=) n.355G= (p.Glu119=) c.*311G= (n.*311G=) | |
| 14 | g.73173594G>T | CA390304754 | PSEN1 | c.367G>T (p.Glu123Ter) c.355G>T (p.Glu119Ter) c.91G>T (p.Glu31Ter) n.367G>T (p.Glu123Ter) n.355G>T (p.Glu119Ter) c.*311G>T (n.*311G>T) | |
| 14 | g.73173595A>C | CA390304757 | PSEN1 | c.368A>C (p.Glu123Ala) c.356A>C (p.Glu119Ala) c.92A>C (p.Glu31Ala) n.368A>C (p.Glu123Ala) n.356A>C (p.Glu119Ala) c.*312A>C (n.*312A>C) | |
| 14 | g.73173595A>G | CA390304759 | PSEN1 | c.368A>G (p.Glu123Gly) c.356A>G (p.Glu119Gly) c.92A>G (p.Glu31Gly) n.368A>G (p.Glu123Gly) n.356A>G (p.Glu119Gly) c.*312A>G (n.*312A>G) | |
| 14 | g.73173595A>T | CA390304760 | PSEN1 | c.368A>T (p.Glu123Val) c.356A>T (p.Glu119Val) c.92A>T (p.Glu31Val) n.368A>T (p.Glu123Val) n.356A>T (p.Glu119Val) c.*312A>T (n.*312A>T) |