| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38587410_38587427del | CA2586972029 | SCN5A | c.2412_2429del (p.Leu804_Ser809del) c.2283_2300del (p.Leu761_Ser766del) | gnomAD v4 |
| 3 | g.38587408A>C | CA352143196 | SCN5A | c.2428T>G (p.Phe810Val) c.2299T>G (p.Phe767Val) | |
| 3 | g.38587408A>G | CA352143197 | SCN5A | c.2428T>C (p.Phe810Leu) c.2299T>C (p.Phe767Leu) | |
| 3 | g.38587408A>T | CA352143198 | SCN5A | c.2428T>A (p.Phe810Ile) c.2299T>A (p.Phe767Ile) | |
| 3 | g.38587409G>A | CA433136229 | SCN5A | c.2427C>T (p.Ser809=) c.2298C>T (p.Ser766=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587409G>C | CA433136230 | SCN5A | c.2427C>G (p.Ser809=) c.2298C>G (p.Ser766=) | |
| 3 | g.38587409G= | CA1358578137 | SCN5A | c.2427C= (p.Ser809=) c.2298C= (p.Ser766=) | |
| 3 | g.38587409G>T | CA433136231 | SCN5A | c.2427C>A (p.Ser809=) c.2298C>A (p.Ser766=) | |
| 3 | g.38587410G>A | CA352143199 | SCN5A | c.2426C>T (p.Ser809Phe) c.2297C>T (p.Ser766Phe) | |
| 3 | g.38587410G>C | CA352143200 | SCN5A | c.2426C>G (p.Ser809Cys) c.2297C>G (p.Ser766Cys) | |
| 3 | g.38587410G>T | CA352143201 | SCN5A | c.2426C>A (p.Ser809Tyr) c.2297C>A (p.Ser766Tyr) | |
| 3 | g.38587411A>C | CA352143202 | SCN5A | c.2425T>G (p.Ser809Ala) c.2296T>G (p.Ser766Ala) | |
| 3 | g.38587411A>G | CA352143203 | SCN5A | c.2425T>C (p.Ser809Pro) c.2296T>C (p.Ser766Pro) | |
| 3 | g.38587411A>T | CA352143204 | SCN5A | c.2425T>A (p.Ser809Thr) c.2296T>A (p.Ser766Thr) | |
| 3 | g.38587412G>A | CA433136234 | SCN5A | c.2424C>T (p.Arg808=) c.2295C>T (p.Arg765=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587412G>C | CA433136232 | SCN5A | c.2424C>G (p.Arg808=) c.2295C>G (p.Arg765=) | |
| 3 | g.38587412G= | CA1358578138 | SCN5A | c.2424C= (p.Arg808=) c.2295C= (p.Arg765=) | |
| 3 | g.38587412G>T | CA433136233 | SCN5A | c.2424C>A (p.Arg808=) c.2295C>A (p.Arg765=) | |
| 3 | g.38587413C>A | CA352143205 | SCN5A | c.2423G>T (p.Arg808Leu) c.2294G>T (p.Arg765Leu) | |
| 3 | g.38587413C= | CA1358578139 | SCN5A | c.2423G= (p.Arg808=) c.2294G= (p.Arg765=) | |
| 3 | g.38587413C>G | CA016130 | SCN5A | c.2423G>C (p.Arg808Pro) c.2294G>C (p.Arg765Pro) | ClinVar dbSNP |
| 3 | g.38587413C>T | CA016124 | SCN5A | c.2423G>A (p.Arg808His) c.2294G>A (p.Arg765His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587414G>A | CA060381 | SCN5A | c.2422C>T (p.Arg808Cys) c.2293C>T (p.Arg765Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587414G>C | CA352143207 | SCN5A | c.2422C>G (p.Arg808Gly) c.2293C>G (p.Arg765Gly) | |
| 3 | g.38587414G= | CA1358578140 | SCN5A | c.2422C= (p.Arg808=) c.2293C= (p.Arg765=) | |
| 3 | g.38587414G>T | CA352143206 | SCN5A | c.2422C>A (p.Arg808Ser) c.2293C>A (p.Arg765Ser) | |
| 3 | g.38587415C>A | CA433136236 | SCN5A | c.2421G>T (p.Leu807=) c.2292G>T (p.Leu764=) | |
| 3 | g.38587415C>G | CA433136237 | SCN5A | c.2421G>C (p.Leu807=) c.2292G>C (p.Leu764=) | |
| 3 | g.38587415C>T | CA433136238 | SCN5A | c.2421G>A (p.Leu807=) c.2292G>A (p.Leu764=) | |
| 3 | g.38587416A= | CA1358578141 | SCN5A | c.2420T= (p.Leu807=) c.2291T= (p.Leu764=) | |
| 3 | g.38587416A>C | CA352143209 | SCN5A | c.2420T>G (p.Leu807Arg) c.2291T>G (p.Leu764Arg) | |
| 3 | g.38587416A>G | CA16617951 | SCN5A | c.2420T>C (p.Leu807Pro) c.2291T>C (p.Leu764Pro) | ClinVar dbSNP |
| 3 | g.38587416A>T | CA352143208 | SCN5A | c.2420T>A (p.Leu807Gln) c.2291T>A (p.Leu764Gln) | |
| 3 | g.38587417G>A | CA433136240 | SCN5A | c.2419C>T (p.Leu807=) c.2290C>T (p.Leu764=) | |
| 3 | g.38587417G>C | CA352143210 | SCN5A | c.2419C>G (p.Leu807Val) c.2290C>G (p.Leu764Val) | |
| 3 | g.38587417G>T | CA352143211 | SCN5A | c.2419C>A (p.Leu807Met) c.2290C>A (p.Leu764Met) | |
| 3 | g.38587418C>A | CA433136243 | SCN5A | c.2418G>T (p.Val806=) c.2289G>T (p.Val763=) | |
| 3 | g.38587418C>G | CA433136245 | SCN5A | c.2418G>C (p.Val806=) c.2289G>C (p.Val763=) | |
| 3 | g.38587418C>T | CA433136244 | SCN5A | c.2418G>A (p.Val806=) c.2289G>A (p.Val763=) | |
| 3 | g.38587419A>C | CA352143212 | SCN5A | c.2417T>G (p.Val806Gly) c.2288T>G (p.Val763Gly) | ClinVar gnomAD v4 |
| 3 | g.38587419A>G | CA352143213 | SCN5A | c.2417T>C (p.Val806Ala) c.2288T>C (p.Val763Ala) | |
| 3 | g.38587419A>T | CA352143214 | SCN5A | c.2417T>A (p.Val806Glu) c.2288T>A (p.Val763Glu) | |
| 3 | g.38587420C>A | CA352143215 | SCN5A | c.2416G>T (p.Val806Leu) c.2287G>T (p.Val763Leu) | |
| 3 | g.38587420C= | CA1358578142 | SCN5A | c.2416G= (p.Val806=) c.2287G= (p.Val763=) | |
| 3 | g.38587420C>G | CA352143216 | SCN5A | c.2416G>C (p.Val806Leu) c.2287G>C (p.Val763Leu) | |
| 3 | g.38587420C>T | CA060376 | SCN5A | c.2416G>A (p.Val806Met) c.2287G>A (p.Val763Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587421C>A | CA433136248 | SCN5A | c.2415G>T (p.Ser805=) c.2286G>T (p.Ser762=) | |
| 3 | g.38587421C= | CA1358578143 | SCN5A | c.2415G= (p.Ser805=) c.2286G= (p.Ser762=) | |
| 3 | g.38587421C>G | CA060370 | SCN5A | c.2415G>C (p.Ser805=) c.2286G>C (p.Ser762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587421C>T | CA060365 | SCN5A | c.2415G>A (p.Ser805=) c.2286G>A (p.Ser762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |