| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.23355916A>G | CA483164901 | SACS | c.696T>C (p.Asn232=) n.834T>C c.687T>C (p.Asn229=) n.3053T>C c.-1555T>C (n.-1555T>C) c.394T>C c.255T>C (p.Asn85=) c.720T>C (p.Asn240=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.23355916A>T | CA155046 | SACS | c.696T>A (p.Asn232Lys) n.834T>A c.687T>A (p.Asn229Lys) n.3053T>A c.-1555T>A (n.-1555T>A) c.394T>A c.255T>A (p.Asn85Lys) c.720T>A (p.Asn240Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |