| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891784C>A | CA127792 | APP | n.2116G>T n.546G>T n.815G>T c.2149G>T (p.Val717Phe) c.1924G>T (p.Val642Phe) c.1756G>T (p.Val586Phe) c.2092G>T (p.Val698Phe) c.2095G>T (p.Val699Phe) c.1819G>T (p.Val607Phe) c.1981G>T (p.Val661Phe) c.2077G>T (p.Val693Phe) n.496G>T c.2038G>T (p.Val680Phe) c.1870G>T (p.Val624Phe) | ClinVar dbSNP |
| 21 | g.25891784C>G | CA127816 | APP | n.2116G>C n.546G>C n.815G>C c.2149G>C (p.Val717Leu) c.1924G>C (p.Val642Leu) c.1756G>C (p.Val586Leu) c.2092G>C (p.Val698Leu) c.2095G>C (p.Val699Leu) c.1819G>C (p.Val607Leu) c.1981G>C (p.Val661Leu) c.2077G>C (p.Val693Leu) n.496G>C c.2038G>C (p.Val680Leu) c.1870G>C (p.Val624Leu) | ClinVar dbSNP |
| 21 | g.25891784C>T | CA127791 | APP | n.2116G>A n.546G>A n.815G>A c.2149G>A (p.Val717Ile) c.1924G>A (p.Val642Ile) c.1756G>A (p.Val586Ile) c.2092G>A (p.Val698Ile) c.2095G>A (p.Val699Ile) c.1819G>A (p.Val607Ile) c.1981G>A (p.Val661Ile) c.2077G>A (p.Val693Ile) n.496G>A c.2038G>A (p.Val680Ile) c.1870G>A (p.Val624Ile) | ClinVar dbSNP gnomAD v4 |