| 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.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 |
| 3 | g.38587422G>A | CA060361 | SCN5A | c.2414C>T (p.Ser805Leu) c.2285C>T (p.Ser762Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587422G>C | CA352143217 | SCN5A | c.2414C>G (p.Ser805Trp) c.2285C>G (p.Ser762Trp) | |
| 3 | g.38587422G= | CA1358578144 | SCN5A | c.2414C= (p.Ser805=) c.2285C= (p.Ser762=) | |
| 3 | g.38587422G>T | CA352143218 | SCN5A | c.2414C>A (p.Ser805Ter) c.2285C>A (p.Ser762Ter) | dbSNP |
| 3 | g.38587423A>C | CA352143219 | SCN5A | c.2413T>G (p.Ser805Ala) c.2284T>G (p.Ser762Ala) | |
| 3 | g.38587423A>G | CA352143220 | SCN5A | c.2413T>C (p.Ser805Pro) c.2284T>C (p.Ser762Pro) | |
| 3 | g.38587423A>T | CA352143221 | SCN5A | c.2413T>A (p.Ser805Thr) c.2284T>A (p.Ser762Thr) | gnomAD v4 |
| 3 | g.38587424C>A | CA352143222 | SCN5A | c.2412G>T (p.Leu804Phe) c.2283G>T (p.Leu761Phe) | |
| 3 | g.38587424C>G | CA352143223 | SCN5A | c.2412G>C (p.Leu804Phe) c.2283G>C (p.Leu761Phe) | |
| 3 | g.38587424C>T | CA433136250 | SCN5A | c.2412G>A (p.Leu804=) c.2283G>A (p.Leu761=) | |
| 3 | g.38587425A= | CA1358578145 | SCN5A | c.2411T= (p.Leu804=) c.2282T= (p.Leu761=) | |
| 3 | g.38587425A>C | CA352143224 | SCN5A | c.2411T>G (p.Leu804Trp) c.2282T>G (p.Leu761Trp) | |
| 3 | g.38587425A>G | CA352143225 | SCN5A | c.2411T>C (p.Leu804Ser) c.2282T>C (p.Leu761Ser) | |
| 3 | g.38587425A>T | CA352143226 | SCN5A | c.2411T>A (p.Leu804Ter) c.2282T>A (p.Leu761Ter) | dbSNP |
| 3 | g.38587426A= | CA1358578146 | SCN5A | c.2410T= (p.Leu804=) c.2281T= (p.Leu761=) | |
| 3 | g.38587426A>C | CA352143227 | SCN5A | c.2410T>G (p.Leu804Val) c.2281T>G (p.Leu761Val) | gnomAD v4 |
| 3 | g.38587426A>G | CA433136252 | SCN5A | c.2410T>C (p.Leu804=) c.2281T>C (p.Leu761=) | gnomAD v4 |
| 3 | g.38587426A>T | CA352143228 | SCN5A | c.2410T>A (p.Leu804Met) c.2281T>A (p.Leu761Met) | dbSNP |
| 3 | g.38587427G>A | CA433136253 | SCN5A | c.2409C>T (p.Asn803=) c.2280C>T (p.Asn760=) | |
| 3 | g.38587427G>C | CA352143229 | SCN5A | c.2409C>G (p.Asn803Lys) c.2280C>G (p.Asn760Lys) | |
| 3 | g.38587427G>T | CA352143230 | SCN5A | c.2409C>A (p.Asn803Lys) c.2280C>A (p.Asn760Lys) | |
| 3 | g.38587428T>A | CA352143232 | SCN5A | c.2408A>T (p.Asn803Ile) c.2279A>T (p.Asn760Ile) | |
| 3 | g.38587428T>C | CA352143233 | SCN5A | c.2408A>G (p.Asn803Ser) c.2279A>G (p.Asn760Ser) | dbSNP |
| 3 | g.38587428T>G | CA352143231 | SCN5A | c.2408A>C (p.Asn803Thr) c.2279A>C (p.Asn760Thr) | |
| 3 | g.38587428T= | CA1358578147 | SCN5A | c.2408A= (p.Asn803=) c.2279A= (p.Asn760=) | |
| 3 | g.38587428_38587435delinsGA | CA2586972030 | SCN5A | c.2401_2408delinsTC (p.Met801_Asn803delinsSer) c.2272_2279delinsTC (p.Met758_Asn760delinsSer) | |
| 3 | g.38587429T>A | CA352143234 | SCN5A | c.2407A>T (p.Asn803Tyr) c.2278A>T (p.Asn760Tyr) | |
| 3 | g.38587429T>C | CA352143235 | SCN5A | c.2407A>G (p.Asn803Asp) c.2278A>G (p.Asn760Asp) | |
| 3 | g.38587429T>G | CA352143236 | SCN5A | c.2407A>C (p.Asn803His) c.2278A>C (p.Asn760His) | dbSNP |
| 3 | g.38587429T= | CA1358578148 | SCN5A | c.2407A= (p.Asn803=) c.2278A= (p.Asn760=) | |
| 3 | g.38587430G>A | CA433136254 | SCN5A | c.2406C>T (p.Ser802=) c.2277C>T (p.Ser759=) | |
| 3 | g.38587430G>C | CA352143237 | SCN5A | c.2406C>G (p.Ser802Arg) c.2277C>G (p.Ser759Arg) | |
| 3 | g.38587430G>T | CA352143238 | SCN5A | c.2406C>A (p.Ser802Arg) c.2277C>A (p.Ser759Arg) | gnomAD v4 |
| 3 | g.38587431C>A | CA352143241 | SCN5A | c.2405G>T (p.Ser802Ile) c.2276G>T (p.Ser759Ile) | |
| 3 | g.38587431C>G | CA352143240 | SCN5A | c.2405G>C (p.Ser802Thr) c.2276G>C (p.Ser759Thr) | |
| 3 | g.38587431C>T | CA352143239 | SCN5A | c.2405G>A (p.Ser802Asn) c.2276G>A (p.Ser759Asn) | gnomAD v4 |
| 3 | g.38587432T>A | CA352143242 | SCN5A | c.2404A>T (p.Ser802Cys) c.2275A>T (p.Ser759Cys) | |
| 3 | g.38587432T>C | CA352143243 | SCN5A | c.2404A>G (p.Ser802Gly) c.2275A>G (p.Ser759Gly) |