| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.121586253C>T | CA6329387 | SORL1 | c.3738C>T (p.Asn1246=) c.570C>T (p.Asn190=) c.276C>T (p.Asn92=) c.468C>T (p.Asn156=) c.3624C>T (p.Asn1208=) c.2199C>T (p.Asn733=) c.1098C>T (p.Asn366=) c.3426C>T (p.Asn1142=) c.3213C>T (p.Asn1071=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.121586253C>G | CA6329388 | SORL1 | c.3738C>G (p.Asn1246Lys) c.570C>G (p.Asn190Lys) c.276C>G (p.Asn92Lys) c.468C>G (p.Asn156Lys) c.3624C>G (p.Asn1208Lys) c.2199C>G (p.Asn733Lys) c.1098C>G (p.Asn366Lys) c.3426C>G (p.Asn1142Lys) c.3213C>G (p.Asn1071Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |