| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73173575C>A | CA487097956 | PSEN1 | c.348C>A (p.Thr116=) c.336C>A (p.Thr112=) c.72C>A (p.Thr24=) n.348C>A (p.Thr116=) n.336C>A (p.Thr112=) c.*292C>A (n.*292C>A) | |
| 14 | g.73173575C>G | CA487097957 | PSEN1 | c.348C>G (p.Thr116=) c.336C>G (p.Thr112=) c.72C>G (p.Thr24=) n.348C>G (p.Thr116=) n.336C>G (p.Thr112=) c.*292C>G (n.*292C>G) | |
| 14 | g.73173575C>T | CA487097958 | PSEN1 | c.348C>T (p.Thr116=) c.336C>T (p.Thr112=) c.72C>T (p.Thr24=) n.348C>T (p.Thr116=) n.336C>T (p.Thr112=) c.*292C>T (n.*292C>T) | |
| 14 | g.73173576C>A | CA390304679 | PSEN1 | c.349C>A (p.Pro117Thr) c.337C>A (p.Pro113Thr) c.73C>A (p.Pro25Thr) n.349C>A (p.Pro117Thr) n.337C>A (p.Pro113Thr) c.*293C>A (n.*293C>A) | |
| 14 | g.73173576C= | CA2146470971 | PSEN1 | c.349C= (p.Pro117=) c.337C= (p.Pro113=) c.73C= (p.Pro25=) n.349C= (p.Pro117=) n.337C= (p.Pro113=) c.*293C= (n.*293C=) | |
| 14 | g.73173576C>G | CA390304680 | PSEN1 | c.349C>G (p.Pro117Ala) c.337C>G (p.Pro113Ala) c.73C>G (p.Pro25Ala) n.349C>G (p.Pro117Ala) n.337C>G (p.Pro113Ala) c.*293C>G (n.*293C>G) | |
| 14 | g.73173576C>T | CA225005 | PSEN1 | c.349C>T (p.Pro117Ser) c.337C>T (p.Pro113Ser) c.73C>T (p.Pro25Ser) n.349C>T (p.Pro117Ser) n.337C>T (p.Pro113Ser) c.*293C>T (n.*293C>T) | ClinVar dbSNP |
| 14 | g.73173577C>A | CA390304683 | PSEN1 | c.350C>A (p.Pro117Gln) c.338C>A (p.Pro113Gln) c.74C>A (p.Pro25Gln) n.350C>A (p.Pro117Gln) n.338C>A (p.Pro113Gln) c.*294C>A (n.*294C>A) | |
| 14 | g.73173577C= | CA2146470976 | PSEN1 | c.350C= (p.Pro117=) c.338C= (p.Pro113=) c.74C= (p.Pro25=) n.350C= (p.Pro117=) n.338C= (p.Pro113=) c.*294C= (n.*294C=) | |
| 14 | g.73173577C>G | CA390304684 | PSEN1 | c.350C>G (p.Pro117Arg) c.338C>G (p.Pro113Arg) c.74C>G (p.Pro25Arg) n.350C>G (p.Pro117Arg) n.338C>G (p.Pro113Arg) c.*294C>G (n.*294C>G) | |
| 14 | g.73173577C>T | CA225007 | PSEN1 | c.350C>T (p.Pro117Leu) c.338C>T (p.Pro113Leu) c.74C>T (p.Pro25Leu) n.350C>T (p.Pro117Leu) n.338C>T (p.Pro113Leu) c.*294C>T (n.*294C>T) | ClinVar dbSNP |
| 14 | g.73173578A= | CA2146470981 | PSEN1 | c.351A= (p.Pro117=) c.339A= (p.Pro113=) c.75A= (p.Pro25=) n.351A= (p.Pro117=) n.339A= (p.Pro113=) c.*295A= (n.*295A=) | |
| 14 | g.73173578A>C | CA487097961 | PSEN1 | c.351A>C (p.Pro117=) c.339A>C (p.Pro113=) c.75A>C (p.Pro25=) n.351A>C (p.Pro117=) n.339A>C (p.Pro113=) c.*295A>C (n.*295A>C) | |
| 14 | g.73173578A>G | CA487097962 | PSEN1 | c.351A>G (p.Pro117=) c.339A>G (p.Pro113=) c.75A>G (p.Pro25=) n.351A>G (p.Pro117=) n.339A>G (p.Pro113=) c.*295A>G (n.*295A>G) | |
| 14 | g.73173578A>T | CA262615164 | PSEN1 | c.351A>T (p.Pro117=) c.339A>T (p.Pro113=) c.75A>T (p.Pro25=) n.351A>T (p.Pro117=) n.339A>T (p.Pro113=) c.*295A>T (n.*295A>T) | dbSNP |
| 14 | g.73173579T>A | CA390304690 | PSEN1 | c.352T>A (p.Phe118Ile) c.340T>A (p.Phe114Ile) c.76T>A (p.Phe26Ile) n.352T>A (p.Phe118Ile) n.340T>A (p.Phe114Ile) c.*296T>A (n.*296T>A) | |
| 14 | g.73173579T>C | CA390304687 | PSEN1 | c.352T>C (p.Phe118Leu) c.340T>C (p.Phe114Leu) c.76T>C (p.Phe26Leu) n.352T>C (p.Phe118Leu) n.340T>C (p.Phe114Leu) c.*296T>C (n.*296T>C) | |
| 14 | g.73173579T>G | CA390304689 | PSEN1 | c.352T>G (p.Phe118Val) c.340T>G (p.Phe114Val) c.76T>G (p.Phe26Val) n.352T>G (p.Phe118Val) n.340T>G (p.Phe114Val) c.*296T>G (n.*296T>G) | |
| 14 | g.73173580T>A | CA390304692 | PSEN1 | c.353T>A (p.Phe118Tyr) c.341T>A (p.Phe114Tyr) c.77T>A (p.Phe26Tyr) n.353T>A (p.Phe118Tyr) n.341T>A (p.Phe114Tyr) c.*297T>A (n.*297T>A) | |
| 14 | g.73173580T>C | CA390304694 | PSEN1 | c.353T>C (p.Phe118Ser) c.341T>C (p.Phe114Ser) c.77T>C (p.Phe26Ser) n.353T>C (p.Phe118Ser) n.341T>C (p.Phe114Ser) c.*297T>C (n.*297T>C) | |
| 14 | g.73173580T>G | CA390304696 | PSEN1 | c.353T>G (p.Phe118Cys) c.341T>G (p.Phe114Cys) c.77T>G (p.Phe26Cys) n.353T>G (p.Phe118Cys) n.341T>G (p.Phe114Cys) c.*297T>G (n.*297T>G) | |
| 14 | g.73173581C>A | CA390304698 | PSEN1 | c.354C>A (p.Phe118Leu) c.342C>A (p.Phe114Leu) c.78C>A (p.Phe26Leu) n.354C>A (p.Phe118Leu) n.342C>A (p.Phe114Leu) c.*298C>A (n.*298C>A) | |
| 14 | g.73173581C= | CA2146470986 | PSEN1 | c.354C= (p.Phe118=) c.342C= (p.Phe114=) c.78C= (p.Phe26=) n.354C= (p.Phe118=) n.342C= (p.Phe114=) c.*298C= (n.*298C=) | |
| 14 | g.73173581C>G | CA390304700 | PSEN1 | c.354C>G (p.Phe118Leu) c.342C>G (p.Phe114Leu) c.78C>G (p.Phe26Leu) n.354C>G (p.Phe118Leu) n.342C>G (p.Phe114Leu) c.*298C>G (n.*298C>G) | |
| 14 | g.73173581C>T | CA487097966 | PSEN1 | c.354C>T (p.Phe118=) c.342C>T (p.Phe114=) c.78C>T (p.Phe26=) n.354C>T (p.Phe118=) n.342C>T (p.Phe114=) c.*298C>T (n.*298C>T) | |
| 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) |