| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.73173594G>A | CA225010 | PSEN1 | c.367G>A (p.Glu123Lys) c.355G>A (p.Glu119Lys) c.91G>A (p.Glu31Lys) 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) 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=) 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) 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) 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) 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) c.*312A>T (n.*312A>T) | |
| 14 | g.73173596G>A | CA487097980 | PSEN1 | c.369G>A (p.Glu123=) c.357G>A (p.Glu119=) c.93G>A (p.Glu31=) c.*313G>A (n.*313G>A) | |
| 14 | g.73173596G>C | CA390304763 | PSEN1 | c.369G>C (p.Glu123Asp) c.357G>C (p.Glu119Asp) c.93G>C (p.Glu31Asp) c.*313G>C (n.*313G>C) | |
| 14 | g.73173596G>T | CA390304765 | PSEN1 | c.369G>T (p.Glu123Asp) c.357G>T (p.Glu119Asp) c.93G>T (p.Glu31Asp) c.*313G>T (n.*313G>T) | |
| 14 | g.73173597A= | CA2146471033 | PSEN1 | c.370A= (p.Thr124=) c.358A= (p.Thr120=) c.94A= (p.Thr32=) c.*314A= (n.*314A=) | |
| 14 | g.73173597A>C | CA390304767 | PSEN1 | c.370A>C (p.Thr124Pro) c.358A>C (p.Thr120Pro) c.94A>C (p.Thr32Pro) c.*314A>C (n.*314A>C) | |
| 14 | g.73173597A>G | CA7256725 | PSEN1 | c.370A>G (p.Thr124Ala) c.358A>G (p.Thr120Ala) c.94A>G (p.Thr32Ala) c.*314A>G (n.*314A>G) | ClinVar dbSNP ExAC gnomAD |
| 14 | g.73173597A>T | CA390304768 | PSEN1 | c.370A>T (p.Thr124Ser) c.358A>T (p.Thr120Ser) c.94A>T (p.Thr32Ser) c.*314A>T (n.*314A>T) | |
| 14 | g.73173598C>A | CA390304770 | PSEN1 | c.371C>A (p.Thr124Asn) c.359C>A (p.Thr120Asn) c.95C>A (p.Thr32Asn) c.*315C>A (n.*315C>A) | |
| 14 | g.73173598C>G | CA390304772 | PSEN1 | c.371C>G (p.Thr124Ser) c.359C>G (p.Thr120Ser) c.95C>G (p.Thr32Ser) c.*315C>G (n.*315C>G) | |
| 14 | g.73173598C>T | CA390304773 | PSEN1 | c.371C>T (p.Thr124Ile) c.359C>T (p.Thr120Ile) c.95C>T (p.Thr32Ile) c.*315C>T (n.*315C>T) | |
| 14 | g.73173599T>A | CA487097981 | PSEN1 | c.372T>A (p.Thr124=) c.360T>A (p.Thr120=) c.96T>A (p.Thr32=) c.*316T>A (n.*316T>A) | |
| 14 | g.73173599T>C | CA487097982 | PSEN1 | c.372T>C (p.Thr124=) c.360T>C (p.Thr120=) c.96T>C (p.Thr32=) c.*316T>C (n.*316T>C) | |
| 14 | g.73173599T>G | CA487097983 | PSEN1 | c.372T>G (p.Thr124=) c.360T>G (p.Thr120=) c.96T>G (p.Thr32=) c.*316T>G (n.*316T>G) | |
| 14 | g.73173600G>A | CA390304774 | PSEN1 | c.373G>A (p.Val125Met) c.361G>A (p.Val121Met) c.97G>A (p.Val33Met) c.*317G>A (n.*317G>A) | |
| 14 | g.73173600G>C | CA390304776 | PSEN1 | c.373G>C (p.Val125Leu) c.361G>C (p.Val121Leu) c.97G>C (p.Val33Leu) c.*317G>C (n.*317G>C) | |
| 14 | g.73173600G>T | CA390304778 | PSEN1 | c.373G>T (p.Val125Leu) c.361G>T (p.Val121Leu) c.97G>T (p.Val33Leu) c.*317G>T (n.*317G>T) | |
| 14 | g.73173601T>A | CA390304780 | PSEN1 | c.374T>A (p.Val125Glu) c.362T>A (p.Val121Glu) c.98T>A (p.Val33Glu) c.*318T>A (n.*318T>A) | |
| 14 | g.73173601T>C | CA390304782 | PSEN1 | c.374T>C (p.Val125Ala) c.362T>C (p.Val121Ala) c.98T>C (p.Val33Ala) c.*318T>C (n.*318T>C) | |
| 14 | g.73173601T>G | CA390304784 | PSEN1 | c.374T>G (p.Val125Gly) c.362T>G (p.Val121Gly) c.98T>G (p.Val33Gly) c.*318T>G (n.*318T>G) | |
| 14 | g.73173602G>A | CA487097984 | PSEN1 | c.375G>A (p.Val125=) c.363G>A (p.Val121=) c.99G>A (p.Val33=) c.*319G>A (n.*319G>A) | |
| 14 | g.73173602G>C | CA487097985 | PSEN1 | c.375G>C (p.Val125=) c.363G>C (p.Val121=) c.99G>C (p.Val33=) c.*319G>C (n.*319G>C) | ClinVar |
| 14 | g.73173602G= | CA2146471039 | PSEN1 | c.375G= (p.Val125=) c.363G= (p.Val121=) c.99G= (p.Val33=) c.*319G= (n.*319G=) | |
| 14 | g.73173602G>T | CA487097986 | PSEN1 | c.375G>T (p.Val125=) c.363G>T (p.Val121=) c.99G>T (p.Val33=) c.*319G>T (n.*319G>T) | |
| 14 | g.73173603G>A | CA390304790 | PSEN1 | c.376G>A (p.Gly126Ser) c.364G>A (p.Gly122Ser) c.100G>A (p.Gly34Ser) c.*320G>A (n.*320G>A) | |
| 14 | g.73173603G>C | CA390304788 | PSEN1 | c.376G>C (p.Gly126Arg) c.364G>C (p.Gly122Arg) c.100G>C (p.Gly34Arg) c.*320G>C (n.*320G>C) | |
| 14 | g.73173603G>T | CA390304786 | PSEN1 | c.376G>T (p.Gly126Cys) c.364G>T (p.Gly122Cys) c.100G>T (p.Gly34Cys) c.*320G>T (n.*320G>T) | |
| 14 | g.73173604G>A | CA390304796 | PSEN1 | c.377G>A (p.Gly126Asp) c.365G>A (p.Gly122Asp) c.101G>A (p.Gly34Asp) c.*321G>A (n.*321G>A) | |
| 14 | g.73173604G>C | CA390304792 | PSEN1 | c.377G>C (p.Gly126Ala) c.365G>C (p.Gly122Ala) c.101G>C (p.Gly34Ala) c.*321G>C (n.*321G>C) | |
| 14 | g.73173604G>T | CA390304794 | PSEN1 | c.377G>T (p.Gly126Val) c.365G>T (p.Gly122Val) c.101G>T (p.Gly34Val) c.*321G>T (n.*321G>T) | |
| 14 | g.73173605C>A | CA7256726 | PSEN1 | c.378C>A (p.Gly126=) c.366C>A (p.Gly122=) c.102C>A (p.Gly34=) c.*322C>A (n.*322C>A) | dbSNP ExAC gnomAD |
| 14 | g.73173605C= | CA2146471044 | PSEN1 | c.378C= (p.Gly126=) c.366C= (p.Gly122=) c.102C= (p.Gly34=) c.*322C= (n.*322C=) | |
| 14 | g.73173605C>G | CA487097987 | PSEN1 | c.378C>G (p.Gly126=) c.366C>G (p.Gly122=) c.102C>G (p.Gly34=) c.*322C>G (n.*322C>G) | |
| 14 | g.73173605C>T | CA487097988 | PSEN1 | c.378C>T (p.Gly126=) c.366C>T (p.Gly122=) c.102C>T (p.Gly34=) c.*322C>T (n.*322C>T) | |
| 14 | g.73173606C>A | CA390304800 | PSEN1 | c.379C>A (p.Gln127Lys) c.367C>A (p.Gln123Lys) c.103C>A (p.Gln35Lys) c.*323C>A (n.*323C>A) | |
| 14 | g.73173606C>G | CA390304801 | PSEN1 | c.379C>G (p.Gln127Glu) c.367C>G (p.Gln123Glu) c.103C>G (p.Gln35Glu) c.*323C>G (n.*323C>G) | |
| 14 | g.73173606C>T | CA390304802 | PSEN1 | c.379C>T (p.Gln127Ter) c.367C>T (p.Gln123Ter) c.103C>T (p.Gln35Ter) c.*323C>T (n.*323C>T) | |
| 14 | g.73173607A>C | CA390304805 | PSEN1 | c.380A>C (p.Gln127Pro) c.368A>C (p.Gln123Pro) c.104A>C (p.Gln35Pro) c.*324A>C (n.*324A>C) | |
| 14 | g.73173607A>G | CA390304806 | PSEN1 | c.380A>G (p.Gln127Arg) c.368A>G (p.Gln123Arg) c.104A>G (p.Gln35Arg) c.*324A>G (n.*324A>G) | |
| 14 | g.73173607A>T | CA390304807 | PSEN1 | c.380A>T (p.Gln127Leu) c.368A>T (p.Gln123Leu) c.104A>T (p.Gln35Leu) c.*324A>T (n.*324A>T) | |
| 14 | g.73173608G>A | CA487097989 | PSEN1 | c.381G>A (p.Gln127=) c.369G>A (p.Gln123=) c.105G>A (p.Gln35=) c.*325G>A (n.*325G>A) | |
| 14 | g.73173608G>C | CA390304809 | PSEN1 | c.381G>C (p.Gln127His) c.369G>C (p.Gln123His) c.105G>C (p.Gln35His) c.*325G>C (n.*325G>C) | |
| 14 | g.73173608G>T | CA390304811 | PSEN1 | c.381G>T (p.Gln127His) c.369G>T (p.Gln123His) c.105G>T (p.Gln35His) c.*325G>T (n.*325G>T) | |
| 14 | g.73173609A>C | CA487097990 | PSEN1 | c.382A>C (p.Arg128=) c.370A>C (p.Arg124=) c.106A>C (p.Arg36=) c.*326A>C (n.*326A>C) |