| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550917C>T | CA019238 | SCN5A | c.5452G>A (p.Asp1818Asn) c.5455G>A (p.Asp1819Asn) c.5401G>A (p.Asp1801Asn) c.5293G>A (p.Asp1765Asn) c.5356G>A (p.Asp1786Asn) c.5326G>A (p.Asp1776Asn) c.5398G>A (p.Asp1800Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550917C>G | CA352141072 | SCN5A | c.5452G>C (p.Asp1818His) c.5455G>C (p.Asp1819His) c.5401G>C (p.Asp1801His) c.5293G>C (p.Asp1765His) c.5356G>C (p.Asp1786His) c.5326G>C (p.Asp1776His) c.5398G>C (p.Asp1800His) | dbSNP |
| 3 | g.38550917C= | CA1358556916 | SCN5A | c.5452G= (p.Asp1818=) c.5455G= (p.Asp1819=) c.5401G= (p.Asp1801=) c.5293G= (p.Asp1765=) c.5356G= (p.Asp1786=) c.5326G= (p.Asp1776=) c.5398G= (p.Asp1800=) | dbSNP |
| 3 | g.38550917C>A | CA352141073 | SCN5A | c.5452G>T (p.Asp1818Tyr) c.5455G>T (p.Asp1819Tyr) c.5401G>T (p.Asp1801Tyr) c.5293G>T (p.Asp1765Tyr) c.5356G>T (p.Asp1786Tyr) c.5326G>T (p.Asp1776Tyr) c.5398G>T (p.Asp1800Tyr) | dbSNP gnomAD v4 |