UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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 |
| 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) | |
| 3 | g.38587432T>G | CA352143244 | SCN5A | c.2404A>C (p.Ser802Arg) c.2275A>C (p.Ser759Arg) | |
| 3 | g.38587433C>A | CA352143245 | SCN5A | c.2403G>T (p.Met801Ile) c.2274G>T (p.Met758Ile) | |
| 3 | g.38587433C= | CA1358578149 | SCN5A | c.2403G= (p.Met801=) c.2274G= (p.Met758=) | |
| 3 | g.38587433C>G | CA352143246 | SCN5A | c.2403G>C (p.Met801Ile) c.2274G>C (p.Met758Ile) | ClinVar dbSNP |
| 3 | g.38587433C>T | CA352143247 | SCN5A | c.2403G>A (p.Met801Ile) c.2274G>A (p.Met758Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587434A>C | CA352143248 | SCN5A | c.2402T>G (p.Met801Arg) c.2273T>G (p.Met758Arg) | |
| 3 | g.38587434A>G | CA352143250 | SCN5A | c.2402T>C (p.Met801Thr) c.2273T>C (p.Met758Thr) | |
| 3 | g.38587434A>T | CA352143249 | SCN5A | c.2402T>A (p.Met801Lys) c.2273T>A (p.Met758Lys) | |
| 3 | g.38587435T>A | CA352143251 | SCN5A | c.2401A>T (p.Met801Leu) c.2272A>T (p.Met758Leu) | dbSNP |
| 3 | g.38587435T>C | CA352143252 | SCN5A | c.2401A>G (p.Met801Val) c.2272A>G (p.Met758Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587435T>G | CA352143253 | SCN5A | c.2401A>C (p.Met801Leu) c.2272A>C (p.Met758Leu) | ClinVar |
| 3 | g.38587435T= | CA1358578150 | SCN5A | c.2401A= (p.Met801=) c.2272A= (p.Met758=) | |
| 3 | g.38587436G>A | CA433136256 | SCN5A | c.2400C>T (p.Arg800=) c.2271C>T (p.Arg757=) | dbSNP |
| 3 | g.38587436G>C | CA433136257 | SCN5A | c.2400C>G (p.Arg800=) c.2271C>G (p.Arg757=) | |
| 3 | g.38587436G= | CA1358578151 | SCN5A | c.2400C= (p.Arg800=) c.2271C= (p.Arg757=) | |
| 3 | g.38587436G>T | CA433136258 | SCN5A | c.2400C>A (p.Arg800=) c.2271C>A (p.Arg757=) | |
| 3 | g.38587437C>A | CA060340 | SCN5A | c.2399G>T (p.Arg800Leu) c.2270G>T (p.Arg757Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587437C= | CA1358578152 | SCN5A | c.2399G= (p.Arg800=) c.2270G= (p.Arg757=) | |
| 3 | g.38587437C>G | CA352143254 | SCN5A | c.2399G>C (p.Arg800Pro) c.2270G>C (p.Arg757Pro) | |
| 3 | g.38587437C>T | CA060332 | SCN5A | c.2399G>A (p.Arg800His) c.2270G>A (p.Arg757His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587438G>A | CA060327 | SCN5A | c.2398C>T (p.Arg800Cys) c.2269C>T (p.Arg757Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587438G>C | CA352143255 | SCN5A | c.2398C>G (p.Arg800Gly) c.2269C>G (p.Arg757Gly) | dbSNP |
| 3 | g.38587438G= | CA1358578153 | SCN5A | c.2398C= (p.Arg800=) c.2269C= (p.Arg757=) | |
| 3 | g.38587438G>T | CA352143256 | SCN5A | c.2398C>A (p.Arg800Ser) c.2269C>A (p.Arg757Ser) | |
| 3 | g.38587439G>A | CA433136262 | SCN5A | c.2397C>T (p.Ser799=) c.2268C>T (p.Ser756=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587439G>C | CA433136263 | SCN5A | c.2397C>G (p.Ser799=) c.2268C>G (p.Ser756=) | ClinVar |
| 3 | g.38587439G= | CA1358578154 | SCN5A | c.2397C= (p.Ser799=) c.2268C= (p.Ser756=) | |
| 3 | g.38587439G>T | CA433136264 | SCN5A | c.2397C>A (p.Ser799=) c.2268C>A (p.Ser756=) | COSMIC COSMIC COSMIC |
| 3 | g.38587440G>A | CA352143257 | SCN5A | c.2396C>T (p.Ser799Phe) c.2267C>T (p.Ser756Phe) | dbSNP gnomAD v4 |
| 3 | g.38587440G>C | CA352143258 | SCN5A | c.2396C>G (p.Ser799Cys) c.2267C>G (p.Ser756Cys) | |
| 3 | g.38587440G= | CA1358578155 | SCN5A | c.2396C= (p.Ser799=) c.2267C= (p.Ser756=) | |
| 3 | g.38587440G>T | CA352143259 | SCN5A | c.2396C>A (p.Ser799Tyr) c.2267C>A (p.Ser756Tyr) | ClinVar dbSNP |
| 3 | g.38587441A>C | CA352143262 | SCN5A | c.2395T>G (p.Ser799Ala) c.2266T>G (p.Ser756Ala) | |
| 3 | g.38587441A>G | CA352143261 | SCN5A | c.2395T>C (p.Ser799Pro) c.2266T>C (p.Ser756Pro) | gnomAD v4 |
| 3 | g.38587441A>T | CA352143260 | SCN5A | c.2395T>A (p.Ser799Thr) c.2266T>A (p.Ser756Thr) | |
| 3 | g.38587442C>A | CA433136265 | SCN5A | c.2394G>T (p.Leu798=) c.2265G>T (p.Leu755=) | |
| 3 | g.38587442C>G | CA433136266 | SCN5A | c.2394G>C (p.Leu798=) c.2265G>C (p.Leu755=) | |
| 3 | g.38587442C>T | CA433136267 | SCN5A | c.2394G>A (p.Leu798=) c.2265G>A (p.Leu755=) | |
| 3 | g.38587442_38587443delinsCA | CA1358578156 | SCN5A | c.2393_2394delinsTG (p.Leu798=) c.2264_2265delinsTG (p.Leu755=) | |
| 3 | g.38587443del | CA1358578157 | SCN5A | c.2393del (p.Leu798ArgfsTer4) c.2264del (p.Leu755ArgfsTer4) | dbSNP gnomAD v4 |
| 3 | g.38587443A>C | CA352143263 | SCN5A | c.2393T>G (p.Leu798Arg) c.2264T>G (p.Leu755Arg) | |
| 3 | g.38587443A>G | CA352143264 | SCN5A | c.2393T>C (p.Leu798Pro) c.2264T>C (p.Leu755Pro) | |
| 3 | g.38587443A>T | CA352143265 | SCN5A | c.2393T>A (p.Leu798Gln) c.2264T>A (p.Leu755Gln) | |
| 3 | g.38587444G>A | CA433136269 | SCN5A | c.2392C>T (p.Leu798=) c.2263C>T (p.Leu755=) | COSMIC COSMIC COSMIC |
| 3 | g.38587444G>C | CA352143266 | SCN5A | c.2392C>G (p.Leu798Val) c.2263C>G (p.Leu755Val) | |
| 3 | g.38587444G>T | CA352143267 | SCN5A | c.2392C>A (p.Leu798Met) c.2263C>A (p.Leu755Met) | |
| 3 | g.38587445G>A | CA433136271 | SCN5A | c.2391C>T (p.Gly797=) c.2262C>T (p.Gly754=) | |
| 3 | g.38587445G>C | CA433136272 | SCN5A | c.2391C>G (p.Gly797=) c.2262C>G (p.Gly754=) | |
| 3 | g.38587445G>T | CA433136273 | SCN5A | c.2391C>A (p.Gly797=) c.2262C>A (p.Gly754=) | gnomAD v4 |
| 3 | g.38587446C>A | CA72929420 | SCN5A | c.2390G>T (p.Gly797Val) c.2261G>T (p.Gly754Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587446C= | CA1358578158 | SCN5A | c.2390G= (p.Gly797=) c.2261G= (p.Gly754=) | |
| 3 | g.38587446C>G | CA352143268 | SCN5A | c.2390G>C (p.Gly797Ala) c.2261G>C (p.Gly754Ala) | ClinVar dbSNP |
| 3 | g.38587446C>T | CA352143269 | SCN5A | c.2390G>A (p.Gly797Asp) c.2261G>A (p.Gly754Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587447C>A | CA352143270 | SCN5A | c.2389G>T (p.Gly797Cys) c.2260G>T (p.Gly754Cys) | |
| 3 | g.38587447C>G | CA352143271 | SCN5A | c.2389G>C (p.Gly797Arg) c.2260G>C (p.Gly754Arg) | |
| 3 | g.38587447C>T | CA352143272 | SCN5A | c.2389G>A (p.Gly797Ser) c.2260G>A (p.Gly754Ser) | |
| 3 | g.38587448C>A | CA433136274 | SCN5A | c.2388G>T (p.Leu796=) c.2259G>T (p.Leu753=) | |
| 3 | g.38587448C>G | CA433136275 | SCN5A | c.2388G>C (p.Leu796=) c.2259G>C (p.Leu753=) | |
| 3 | g.38587448C>T | CA433136276 | SCN5A | c.2388G>A (p.Leu796=) c.2259G>A (p.Leu753=) | gnomAD v4 |
| 3 | g.38587449A>C | CA352143273 | SCN5A | c.2387T>G (p.Leu796Arg) c.2258T>G (p.Leu753Arg) | |
| 3 | g.38587449A>G | CA352143274 | SCN5A | c.2387T>C (p.Leu796Pro) c.2258T>C (p.Leu753Pro) | |
| 3 | g.38587449A>T | CA352143275 | SCN5A | c.2387T>A (p.Leu796Gln) c.2258T>A (p.Leu753Gln) | |
| 3 | g.38587450G>A | CA060317 | SCN5A | c.2386C>T (p.Leu796=) c.2257C>T (p.Leu753=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587450G>C | CA352143277 | SCN5A | c.2386C>G (p.Leu796Val) c.2257C>G (p.Leu753Val) | |
| 3 | g.38587450G= | CA1358578159 | SCN5A | c.2386C= (p.Leu796=) c.2257C= (p.Leu753=) | |
| 3 | g.38587450G>T | CA352143276 | SCN5A | c.2386C>A (p.Leu796Met) c.2257C>A (p.Leu753Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587451C>A | CA352143278 | SCN5A | c.2385G>T (p.Glu795Asp) c.2256G>T (p.Glu752Asp) | |
| 3 | g.38587451C= | CA1358578160 | SCN5A | c.2385G= (p.Glu795=) c.2256G= (p.Glu752=) | |
| 3 | g.38587451C>G | CA352143279 | SCN5A | c.2385G>C (p.Glu795Asp) c.2256G>C (p.Glu752Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587451C>T | CA433136280 | SCN5A | c.2385G>A (p.Glu795=) c.2256G>A (p.Glu752=) | |
| 3 | g.38587452T>A | CA352143280 | SCN5A | c.2384A>T (p.Glu795Val) c.2255A>T (p.Glu752Val) | |
| 3 | g.38587452T>C | CA352143281 | SCN5A | c.2384A>G (p.Glu795Gly) c.2255A>G (p.Glu752Gly) | |
| 3 | g.38587452T>G | CA352143282 | SCN5A | c.2384A>C (p.Glu795Ala) c.2255A>C (p.Glu752Ala) | |
| 3 | g.38587453C>A | CA352143283 | SCN5A | c.2383G>T (p.Glu795Ter) c.2254G>T (p.Glu752Ter) | dbSNP |
| 3 | g.38587453C= | CA1358578161 | SCN5A | c.2383G= (p.Glu795=) c.2254G= (p.Glu752=) | |
| 3 | g.38587453C>G | CA352143284 | SCN5A | c.2383G>C (p.Glu795Gln) c.2254G>C (p.Glu752Gln) | ClinVar |
| 3 | g.38587453C>T | CA16611283 | SCN5A | c.2383G>A (p.Glu795Lys) c.2254G>A (p.Glu752Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587454C>A | CA352143285 | SCN5A | c.2382G>T (p.Met794Ile) c.2253G>T (p.Met751Ile) | |
| 3 | g.38587454C= | CA1358578162 | SCN5A | c.2382G= (p.Met794=) c.2253G= (p.Met751=) | |
| 3 | g.38587454C>G | CA352143286 | SCN5A | c.2382G>C (p.Met794Ile) c.2253G>C (p.Met751Ile) | ClinVar dbSNP |
| 3 | g.38587454C>T | CA352143287 | SCN5A | c.2382G>A (p.Met794Ile) c.2253G>A (p.Met751Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587455A= | CA1358578163 | SCN5A | c.2381T= (p.Met794=) c.2252T= (p.Met751=) | |
| 3 | g.38587455A>C | CA352143288 | SCN5A | c.2381T>G (p.Met794Arg) c.2252T>G (p.Met751Arg) | |
| 3 | g.38587455A>G | CA16604918 | SCN5A | c.2381T>C (p.Met794Thr) c.2252T>C (p.Met751Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587455A>T | CA352143289 | SCN5A | c.2381T>A (p.Met794Lys) c.2252T>A (p.Met751Lys) | |
| 3 | g.38587456T>A | CA352143291 | SCN5A | c.2380A>T (p.Met794Leu) c.2251A>T (p.Met751Leu) | |
| 3 | g.38587456T>C | CA352143292 | SCN5A | c.2380A>G (p.Met794Val) c.2251A>G (p.Met751Val) | ClinVar |
| 3 | g.38587456T>G | CA352143290 | SCN5A | c.2380A>C (p.Met794Leu) c.2251A>C (p.Met751Leu) | |
| 3 | g.38587457G>A | CA060305 | SCN5A | c.2379C>T (p.Leu793=) c.2250C>T (p.Leu750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587457G>C | CA433136285 | SCN5A | c.2379C>G (p.Leu793=) c.2250C>G (p.Leu750=) | |
| 3 | g.38587457G= | CA1358578164 | SCN5A | c.2379C= (p.Leu793=) c.2250C= (p.Leu750=) | |
| 3 | g.38587457G>T | CA433136286 | SCN5A | c.2379C>A (p.Leu793=) c.2250C>A (p.Leu750=) | |
| 3 | g.38587458A>C | CA352143293 | SCN5A | c.2378T>G (p.Leu793Arg) c.2249T>G (p.Leu750Arg) | |
| 3 | g.38587458A>G | CA352143294 | SCN5A | c.2378T>C (p.Leu793Pro) c.2249T>C (p.Leu750Pro) | |
| 3 | g.38587458A>T | CA352143295 | SCN5A | c.2378T>A (p.Leu793His) c.2249T>A (p.Leu750His) | |
| 3 | g.38587459G>A | CA352143296 | SCN5A | c.2377C>T (p.Leu793Phe) c.2248C>T (p.Leu750Phe) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38587459G>C | CA352143297 | SCN5A | c.2377C>G (p.Leu793Val) c.2248C>G (p.Leu750Val) | |
| 3 | g.38587459G= | CA1358578165 | SCN5A | c.2377C= (p.Leu793=) c.2248C= (p.Leu750=) | |
| 3 | g.38587459G>T | CA352143298 | SCN5A | c.2377C>A (p.Leu793Ile) c.2248C>A (p.Leu750Ile) | |
| 3 | g.38587460G>A | CA433136287 | SCN5A | c.2376C>T (p.Ser792=) c.2247C>T (p.Ser749=) | |
| 3 | g.38587460G>C | CA352143299 | SCN5A | c.2376C>G (p.Ser792Arg) c.2247C>G (p.Ser749Arg) | |
| 3 | g.38587460G>T | CA352143300 | SCN5A | c.2376C>A (p.Ser792Arg) c.2247C>A (p.Ser749Arg) | |
| 3 | g.38587461C>A | CA352143301 | SCN5A | c.2375G>T (p.Ser792Ile) c.2246G>T (p.Ser749Ile) | |
| 3 | g.38587461C>G | CA352143302 | SCN5A | c.2375G>C (p.Ser792Thr) c.2246G>C (p.Ser749Thr) | |
| 3 | g.38587461C>T | CA352143303 | SCN5A | c.2375G>A (p.Ser792Asn) c.2246G>A (p.Ser749Asn) | |
| 3 | g.38587462T>A | CA352143305 | SCN5A | c.2374A>T (p.Ser792Cys) c.2245A>T (p.Ser749Cys) | |
| 3 | g.38587462T>C | CA352143306 | SCN5A | c.2374A>G (p.Ser792Gly) c.2245A>G (p.Ser749Gly) | |
| 3 | g.38587462T>G | CA352143304 | SCN5A | c.2374A>C (p.Ser792Arg) c.2245A>C (p.Ser749Arg) | |
| 3 | g.38587462dup | CA2586972031 | SCN5A | c.2374dup (p.Ser792LysfsTer?) c.2245dup (p.Ser749LysfsTer?) | |
| 3 | g.38587463A>C | CA433136289 | SCN5A | c.2373T>G (p.Leu791=) c.2244T>G (p.Leu748=) | |
| 3 | g.38587463A>G | CA433136291 | SCN5A | c.2373T>C (p.Leu791=) c.2244T>C (p.Leu748=) | gnomAD v4 |
| 3 | g.38587463A>T | CA433136290 | SCN5A | c.2373T>A (p.Leu791=) c.2244T>A (p.Leu748=) | |
| 3 | g.38587464A>C | CA352143307 | SCN5A | c.2372T>G (p.Leu791Arg) c.2243T>G (p.Leu748Arg) | |
| 3 | g.38587464A>G | CA352143308 | SCN5A | c.2372T>C (p.Leu791Pro) c.2243T>C (p.Leu748Pro) | |
| 3 | g.38587464A>T | CA352143309 | SCN5A | c.2372T>A (p.Leu791His) c.2243T>A (p.Leu748His) | |
| 3 | g.38587465G>A | CA352143310 | SCN5A | c.2371C>T (p.Leu791Phe) c.2242C>T (p.Leu748Phe) | dbSNP gnomAD v4 |
| 3 | g.38587465G>C | CA352143311 | SCN5A | c.2371C>G (p.Leu791Val) c.2242C>G (p.Leu748Val) | |
| 3 | g.38587465G= | CA1358578166 | SCN5A | c.2371C= (p.Leu791=) c.2242C= (p.Leu748=) | |
| 3 | g.38587465G>T | CA352143312 | SCN5A | c.2371C>A (p.Leu791Ile) c.2242C>A (p.Leu748Ile) | |
| 3 | g.38587466G>A | CA433136292 | SCN5A | c.2370C>T (p.Ile790=) c.2241C>T (p.Ile747=) | |
| 3 | g.38587466G>C | CA352143313 | SCN5A | c.2370C>G (p.Ile790Met) c.2241C>G (p.Ile747Met) | |
| 3 | g.38587466G>T | CA433136293 | SCN5A | c.2370C>A (p.Ile790=) c.2241C>A (p.Ile747=) | |
| 3 | g.38587467A>C | CA352143314 | SCN5A | c.2369T>G (p.Ile790Ser) c.2240T>G (p.Ile747Ser) | |
| 3 | g.38587467A>G | CA352143315 | SCN5A | c.2369T>C (p.Ile790Thr) c.2240T>C (p.Ile747Thr) | gnomAD v4 |
| 3 | g.38587467A>T | CA352143316 | SCN5A | c.2369T>A (p.Ile790Asn) c.2240T>A (p.Ile747Asn) | |
| 3 | g.38587468T>A | CA352143317 | SCN5A | c.2368A>T (p.Ile790Phe) c.2239A>T (p.Ile747Phe) | |
| 3 | g.38587468T>C | CA352143318 | SCN5A | c.2368A>G (p.Ile790Val) c.2239A>G (p.Ile747Val) | |
| 3 | g.38587468T>G | CA352143319 | SCN5A | c.2368A>C (p.Ile790Leu) c.2239A>C (p.Ile747Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38587469G>A | CA433136296 | SCN5A | c.2367C>T (p.Val789=) c.2238C>T (p.Val746=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587469G>C | CA433136297 | SCN5A | c.2367C>G (p.Val789=) c.2238C>G (p.Val746=) | |
| 3 | g.38587469G= | CA1358578167 | SCN5A | c.2367C= (p.Val789=) c.2238C= (p.Val746=) | |
| 3 | g.38587469G>T | CA433136298 | SCN5A | c.2367C>A (p.Val789=) c.2238C>A (p.Val746=) | |
| 3 | g.38587470A= | CA1358578168 | SCN5A | c.2366T= (p.Val789=) c.2237T= (p.Val746=) | |
| 3 | g.38587470A>C | CA352143320 | SCN5A | c.2366T>G (p.Val789Gly) c.2237T>G (p.Val746Gly) | |
| 3 | g.38587470A>G | CA060290 | SCN5A | c.2366T>C (p.Val789Ala) c.2237T>C (p.Val746Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587470A>T | CA352143321 | SCN5A | c.2366T>A (p.Val789Asp) c.2237T>A (p.Val746Asp) | |
| 3 | g.38587471C>A | CA352143322 | SCN5A | c.2365G>T (p.Val789Phe) c.2236G>T (p.Val746Phe) | |
| 3 | g.38587471C= | CA1358578169 | SCN5A | c.2365G= (p.Val789=) c.2236G= (p.Val746=) | |
| 3 | g.38587471C>G | CA352143323 | SCN5A | c.2365G>C (p.Val789Leu) c.2236G>C (p.Val746Leu) | |
| 3 | g.38587471C>T | CA016111 | SCN5A | c.2365G>A (p.Val789Ile) c.2236G>A (p.Val746Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587472G>A | CA060275 | SCN5A | c.2364C>T (p.Ile788=) c.2235C>T (p.Ile745=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587472G>C | CA352143324 | SCN5A | c.2364C>G (p.Ile788Met) c.2235C>G (p.Ile745Met) | |
| 3 | g.38587472G= | CA1358578170 | SCN5A | c.2364C= (p.Ile788=) c.2235C= (p.Ile745=) | |
| 3 | g.38587472G>T | CA433136302 | SCN5A | c.2364C>A (p.Ile788=) c.2235C>A (p.Ile745=) | ClinVar |
| 3 | g.38587473A>C | CA352143325 | SCN5A | c.2363T>G (p.Ile788Ser) c.2234T>G (p.Ile745Ser) | |
| 3 | g.38587473A>G | CA352143326 | SCN5A | c.2363T>C (p.Ile788Thr) c.2234T>C (p.Ile745Thr) | |
| 3 | g.38587473A>T | CA352143327 | SCN5A | c.2363T>A (p.Ile788Asn) c.2234T>A (p.Ile745Asn) | |
| 3 | g.38587474T>A | CA352143328 | SCN5A | c.2362A>T (p.Ile788Phe) c.2233A>T (p.Ile745Phe) | ClinVar dbSNP |
| 3 | g.38587474T>C | CA352143329 | SCN5A | c.2362A>G (p.Ile788Val) c.2233A>G (p.Ile745Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587474T>G | CA352143330 | SCN5A | c.2362A>C (p.Ile788Leu) c.2233A>C (p.Ile745Leu) | |
| 3 | g.38587474T= | CA1358578171 | SCN5A | c.2362A= (p.Ile788=) c.2233A= (p.Ile745=) | |
| 3 | g.38587475G>A | CA433136304 | SCN5A | c.2361C>T (p.Ile787=) c.2232C>T (p.Ile744=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587475G>C | CA352143331 | SCN5A | c.2361C>G (p.Ile787Met) c.2232C>G (p.Ile744Met) | |
| 3 | g.38587475G= | CA1358578172 | SCN5A | c.2361C= (p.Ile787=) c.2232C= (p.Ile744=) | |
| 3 | g.38587475G>T | CA060269 | SCN5A | c.2361C>A (p.Ile787=) c.2232C>A (p.Ile744=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587476A>C | CA352143334 | SCN5A | c.2360T>G (p.Ile787Ser) c.2231T>G (p.Ile744Ser) | |
| 3 | g.38587476A>G | CA352143333 | SCN5A | c.2360T>C (p.Ile787Thr) c.2231T>C (p.Ile744Thr) | |
| 3 | g.38587476A>T | CA352143332 | SCN5A | c.2360T>A (p.Ile787Asn) c.2231T>A (p.Ile744Asn) | |
| 3 | g.38587477T>A | CA352143335 | SCN5A | c.2359A>T (p.Ile787Phe) c.2230A>T (p.Ile744Phe) | |
| 3 | g.38587477T>C | CA352143336 | SCN5A | c.2359A>G (p.Ile787Val) c.2230A>G (p.Ile744Val) | ClinVar gnomAD v4 |
| 3 | g.38587477T>G | CA352143337 | SCN5A | c.2359A>C (p.Ile787Leu) c.2230A>C (p.Ile744Leu) | |
| 3 | g.38587478G>A | CA433136305 | SCN5A | c.2358C>T (p.Ser786=) c.2229C>T (p.Ser743=) | |
| 3 | g.38587478G>C | CA352143338 | SCN5A | c.2358C>G (p.Ser786Arg) c.2229C>G (p.Ser743Arg) | |
| 3 | g.38587478G>T | CA352143339 | SCN5A | c.2358C>A (p.Ser786Arg) c.2229C>A (p.Ser743Arg) | |
| 3 | g.38587479C>A | CA352143340 | SCN5A | c.2357G>T (p.Ser786Ile) c.2228G>T (p.Ser743Ile) | |
| 3 | g.38587479C>G | CA352143341 | SCN5A | c.2357G>C (p.Ser786Thr) c.2228G>C (p.Ser743Thr) | |
| 3 | g.38587479C>T | CA352143342 | SCN5A | c.2357G>A (p.Ser786Asn) c.2228G>A (p.Ser743Asn) | |
| 3 | g.38587480T>A | CA352143343 | SCN5A | c.2356A>T (p.Ser786Cys) c.2227A>T (p.Ser743Cys) | |
| 3 | g.38587480T>C | CA352143344 | SCN5A | c.2356A>G (p.Ser786Gly) c.2227A>G (p.Ser743Gly) | |
| 3 | g.38587480T>G | CA352143345 | SCN5A | c.2356A>C (p.Ser786Arg) c.2227A>C (p.Ser743Arg) | |
| 3 | g.38587481del | CA2665114017 | SCN5A | c.2355del (p.Asp785GlufsTer17) c.2226del (p.Asp742GlufsTer17) | gnomAD v4 |
| 3 | g.38587481G>A | CA433136308 | SCN5A | c.2355C>T (p.Asp785=) c.2226C>T (p.Asp742=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587481G>C | CA352143346 | SCN5A | c.2355C>G (p.Asp785Glu) c.2226C>G (p.Asp742Glu) | gnomAD v4 |
| 3 | g.38587481G= | CA1358578173 | SCN5A | c.2355C= (p.Asp785=) c.2226C= (p.Asp742=) | |
| 3 | g.38587481G>T | CA352143347 | SCN5A | c.2355C>A (p.Asp785Glu) c.2226C>A (p.Asp742Glu) | |
| 3 | g.38587482T>A | CA352143349 | SCN5A | c.2354A>T (p.Asp785Val) c.2225A>T (p.Asp742Val) | |
| 3 | g.38587482T>C | CA352143350 | SCN5A | c.2354A>G (p.Asp785Gly) c.2225A>G (p.Asp742Gly) | |
| 3 | g.38587482T>G | CA352143348 | SCN5A | c.2354A>C (p.Asp785Ala) c.2225A>C (p.Asp742Ala) | |
| 3 | g.38587483C>A | CA352143351 | SCN5A | c.2353G>T (p.Asp785Tyr) c.2224G>T (p.Asp742Tyr) | |
| 3 | g.38587483C= | CA1358578174 | SCN5A | c.2353G= (p.Asp785=) c.2224G= (p.Asp742=) | |
| 3 | g.38587483C>G | CA352143352 | SCN5A | c.2353G>C (p.Asp785His) c.2224G>C (p.Asp742His) | gnomAD v4 |
| 3 | g.38587483C>T | CA352143353 | SCN5A | c.2353G>A (p.Asp785Asn) c.2224G>A (p.Asp742Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587484G>A | CA433136311 | SCN5A | c.2352C>T (p.Phe784=) c.2223C>T (p.Phe741=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587484G>C | CA352143354 | SCN5A | c.2352C>G (p.Phe784Leu) c.2223C>G (p.Phe741Leu) | |
| 3 | g.38587484G= | CA1358578175 | SCN5A | c.2352C= (p.Phe784=) c.2223C= (p.Phe741=) | |
| 3 | g.38587484G>T | CA352143355 | SCN5A | c.2352C>A (p.Phe784Leu) c.2223C>A (p.Phe741Leu) | |
| 3 | g.38587485A>C | CA352143356 | SCN5A | c.2351T>G (p.Phe784Cys) c.2222T>G (p.Phe741Cys) | |
| 3 | g.38587485A>G | CA352143357 | SCN5A | c.2351T>C (p.Phe784Ser) c.2222T>C (p.Phe741Ser) | |
| 3 | g.38587485A>T | CA352143358 | SCN5A | c.2351T>A (p.Phe784Tyr) c.2222T>A (p.Phe741Tyr) | |
| 3 | g.38587486A= | CA1358578176 | SCN5A | c.2350T= (p.Phe784=) c.2221T= (p.Phe741=) | |
| 3 | g.38587486A>C | CA352143359 | SCN5A | c.2350T>G (p.Phe784Val) c.2221T>G (p.Phe741Val) | |
| 3 | g.38587486A>G | CA060231 | SCN5A | c.2350T>C (p.Phe784Leu) c.2221T>C (p.Phe741Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587486A>T | CA352143360 | SCN5A | c.2350T>A (p.Phe784Ile) c.2221T>A (p.Phe741Ile) | |
| 3 | g.38587487G>A | CA433136315 | SCN5A | c.2349C>T (p.Ile783=) c.2220C>T (p.Ile740=) | |
| 3 | g.38587487G>C | CA72929434 | SCN5A | c.2349C>G (p.Ile783Met) c.2220C>G (p.Ile740Met) | dbSNP gnomAD v4 |
| 3 | g.38587487G= | CA1358578177 | SCN5A | c.2349C= (p.Ile783=) c.2220C= (p.Ile740=) | |
| 3 | g.38587487G>T | CA433136316 | SCN5A | c.2349C>A (p.Ile783=) c.2220C>A (p.Ile740=) | |
| 3 | g.38587488A= | CA1358578178 | SCN5A | c.2348T= (p.Ile783=) c.2219T= (p.Ile740=) | |
| 3 | g.38587488A>C | CA352143363 | SCN5A | c.2348T>G (p.Ile783Ser) c.2219T>G (p.Ile740Ser) | |
| 3 | g.38587488A>G | CA352143361 | SCN5A | c.2348T>C (p.Ile783Thr) c.2219T>C (p.Ile740Thr) | dbSNP gnomAD v2 |
| 3 | g.38587488A>T | CA352143362 | SCN5A | c.2348T>A (p.Ile783Asn) c.2219T>A (p.Ile740Asn) | |
| 3 | g.38587489T>A | CA352143364 | SCN5A | c.2347A>T (p.Ile783Phe) c.2218A>T (p.Ile740Phe) | |
| 3 | g.38587489T>C | CA352143365 | SCN5A | c.2347A>G (p.Ile783Val) c.2218A>G (p.Ile740Val) | gnomAD v4 |
| 3 | g.38587489T>G | CA352143366 | SCN5A | c.2347A>C (p.Ile783Leu) c.2218A>C (p.Ile740Leu) | |
| 3 | g.38587490G>A | CA433136322 | SCN5A | c.2346C>T (p.Asn782=) c.2217C>T (p.Asn739=) | ClinVar |
| 3 | g.38587490G>C | CA352143367 | SCN5A | c.2346C>G (p.Asn782Lys) c.2217C>G (p.Asn739Lys) | |
| 3 | g.38587490G>T | CA352143368 | SCN5A | c.2346C>A (p.Asn782Lys) c.2217C>A (p.Asn739Lys) | |
| 3 | g.38587491T>A | CA352143369 | SCN5A | c.2345A>T (p.Asn782Ile) c.2216A>T (p.Asn739Ile) | |
| 3 | g.38587491T>C | CA352143370 | SCN5A | c.2345A>G (p.Asn782Ser) c.2216A>G (p.Asn739Ser) | ClinVar gnomAD v4 |
| 3 | g.38587491T>G | CA352143371 | SCN5A | c.2345A>C (p.Asn782Thr) c.2216A>C (p.Asn739Thr) | |
| 3 | g.38587492T>A | CA352143372 | SCN5A | c.2344A>T (p.Asn782Tyr) c.2215A>T (p.Asn739Tyr) | |
| 3 | g.38587492T>C | CA352143373 | SCN5A | c.2344A>G (p.Asn782Asp) c.2215A>G (p.Asn739Asp) | |
| 3 | g.38587492T>G | CA352143374 | SCN5A | c.2344A>C (p.Asn782His) c.2215A>C (p.Asn739His) | |
| 3 | g.38587492_38587493delinsTC | CA1358578179 | SCN5A | c.2343_2344delinsGA (p.Trp781=) c.2214_2215delinsGA (p.Trp738=) | |
| 3 | g.38587493C>A | CA352143376 | SCN5A | c.2343G>T (p.Trp781Cys) c.2214G>T (p.Trp738Cys) | |
| 3 | g.38587493C= | CA1358578180 | SCN5A | c.2343G= (p.Trp781=) c.2214G= (p.Trp738=) | |
| 3 | g.38587493C>G | CA352143375 | SCN5A | c.2343G>C (p.Trp781Cys) c.2214G>C (p.Trp738Cys) | ClinVar |
| 3 | g.38587493C>T | CA352143377 | SCN5A | c.2343G>A (p.Trp781Ter) c.2214G>A (p.Trp738Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38587494del | CA016100 | SCN5A | c.2343del (p.Trp781Ter) c.2214del (p.Trp738Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587494C>A | CA352143379 | SCN5A | c.2342G>T (p.Trp781Leu) c.2213G>T (p.Trp738Leu) | |
| 3 | g.38587494C>G | CA352143378 | SCN5A | c.2342G>C (p.Trp781Ser) c.2213G>C (p.Trp738Ser) | |
| 3 | g.38587494C>T | CA352143380 | SCN5A | c.2342G>A (p.Trp781Ter) c.2213G>A (p.Trp738Ter) | |
| 3 | g.38587495A>C | CA352143381 | SCN5A | c.2341T>G (p.Trp781Gly) c.2212T>G (p.Trp738Gly) | |
| 3 | g.38587495A>G | CA352143383 | SCN5A | c.2341T>C (p.Trp781Arg) c.2212T>C (p.Trp738Arg) | |
| 3 | g.38587495A>T | CA352143382 | SCN5A | c.2341T>A (p.Trp781Arg) c.2212T>A (p.Trp738Arg) | |
| 3 | g.38587496G>A | CA433136326 | SCN5A | c.2340C>T (p.Gly780=) c.2211C>T (p.Gly737=) | |
| 3 | g.38587496G>C | CA433136327 | SCN5A | c.2340C>G (p.Gly780=) c.2211C>G (p.Gly737=) | |
| 3 | g.38587496G>T | CA433136328 | SCN5A | c.2340C>A (p.Gly780=) c.2211C>A (p.Gly737=) | COSMIC COSMIC COSMIC |
| 3 | g.38587497C>A | CA352143384 | SCN5A | c.2339G>T (p.Gly780Val) c.2210G>T (p.Gly737Val) | |
| 3 | g.38587497C>G | CA352143385 | SCN5A | c.2339G>C (p.Gly780Ala) c.2210G>C (p.Gly737Ala) | |
| 3 | g.38587497C>T | CA352143386 | SCN5A | c.2339G>A (p.Gly780Asp) c.2210G>A (p.Gly737Asp) | |
| 3 | g.38587498C>A | CA352143387 | SCN5A | c.2338G>T (p.Gly780Cys) c.2209G>T (p.Gly737Cys) | |
| 3 | g.38587498C>G | CA352143388 | SCN5A | c.2338G>C (p.Gly780Arg) c.2209G>C (p.Gly737Arg) | |
| 3 | g.38587498C>T | CA352143389 | SCN5A | c.2338G>A (p.Gly780Ser) c.2209G>A (p.Gly737Ser) | |
| 3 | g.38587499C>A | CA352143390 | SCN5A | c.2337G>T (p.Gln779His) c.2208G>T (p.Gln736His) | |
| 3 | g.38587499C>G | CA352143391 | SCN5A | c.2337G>C (p.Gln779His) c.2208G>C (p.Gln736His) | |
| 3 | g.38587499C>T | CA433136334 | SCN5A | c.2337G>A (p.Gln779=) c.2208G>A (p.Gln736=) | |
| 3 | g.38587500del | CA2739277896 | SCN5A | c.2336del (p.Gln779ArgfsTer23) c.2207del (p.Gln736ArgfsTer23) | ClinVar |
| 3 | g.38587500T>A | CA352143392 | SCN5A | c.2336A>T (p.Gln779Leu) c.2207A>T (p.Gln736Leu) | |
| 3 | g.38587500T>C | CA352143393 | SCN5A | c.2336A>G (p.Gln779Arg) c.2207A>G (p.Gln736Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587500T>G | CA352143394 | SCN5A | c.2336A>C (p.Gln779Pro) c.2207A>C (p.Gln736Pro) | |
| 3 | g.38587500T= | CA1358578181 | SCN5A | c.2336A= (p.Gln779=) c.2207A= (p.Gln736=) | |
| 3 | g.38587500_38587501delinsTG | CA1358578182 | SCN5A | c.2335_2336delinsCA (p.Gln779=) c.2206_2207delinsCA (p.Gln736=) | |
| 3 | g.38587501del | CA1139657972 | SCN5A | c.2335del (p.Gln779ArgfsTer23) c.2206del (p.Gln736ArgfsTer23) | ClinVar dbSNP |
| 3 | g.38587501G>A | CA352143395 | SCN5A | c.2335C>T (p.Gln779Ter) c.2206C>T (p.Gln736Ter) | dbSNP |
| 3 | g.38587501G>C | CA352143396 | SCN5A | c.2335C>G (p.Gln779Glu) c.2206C>G (p.Gln736Glu) | |
| 3 | g.38587501G= | CA1358578183 | SCN5A | c.2335C= (p.Gln779=) c.2206C= (p.Gln736=) | |
| 3 | g.38587501G>T | CA016095 | SCN5A | c.2335C>A (p.Gln779Lys) c.2206C>A (p.Gln736Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587502T>A | CA352143397 | SCN5A | c.2334A>T (p.Gln778His) c.2205A>T (p.Gln735His) | |
| 3 | g.38587502T>C | CA433136338 | SCN5A | c.2334A>G (p.Gln778=) c.2205A>G (p.Gln735=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587502T>G | CA352143398 | SCN5A | c.2334A>C (p.Gln778His) c.2205A>C (p.Gln735His) | |
| 3 | g.38587502T= | CA1358578184 | SCN5A | c.2334A= (p.Gln778=) c.2205A= (p.Gln735=) | |
| 3 | g.38587507_38587508insATTGGAA | CA16617952 | SCN5A | c.2334_2335insTTTCCAA (p.Gln779PhefsTer16) c.2205_2206insTTTCCAA (p.Gln736PhefsTer16) | ClinVar dbSNP |
| 3 | g.38587503T>A | CA352143399 | SCN5A | c.2333A>T (p.Gln778Leu) c.2204A>T (p.Gln735Leu) | |
| 3 | g.38587503T>C | CA352143400 | SCN5A | c.2333A>G (p.Gln778Arg) c.2204A>G (p.Gln735Arg) | |
| 3 | g.38587503T>G | CA352143401 | SCN5A | c.2333A>C (p.Gln778Pro) c.2204A>C (p.Gln735Pro) | |
| 3 | g.38587504G>A | CA352143402 | SCN5A | c.2332C>T (p.Gln778Ter) c.2203C>T (p.Gln735Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38587504G>C | CA352143403 | SCN5A | c.2332C>G (p.Gln778Glu) c.2203C>G (p.Gln735Glu) | gnomAD v4 |
| 3 | g.38587504G>T | CA352143404 | SCN5A | c.2332C>A (p.Gln778Lys) c.2203C>A (p.Gln735Lys) | |
| 3 | g.38587505G>A | CA060222 | SCN5A | c.2331C>T (p.Phe777=) c.2202C>T (p.Phe734=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587505G>C | CA72929440 | SCN5A | c.2331C>G (p.Phe777Leu) c.2202C>G (p.Phe734Leu) | dbSNP |
| 3 | g.38587505G= | CA1358578185 | SCN5A | c.2331C= (p.Phe777=) c.2202C= (p.Phe734=) | |
| 3 | g.38587505G>T | CA352143405 | SCN5A | c.2331C>A (p.Phe777Leu) c.2202C>A (p.Phe734Leu) | |
| 3 | g.38587506A= | CA1358578186 | SCN5A | c.2330T= (p.Phe777=) c.2201T= (p.Phe734=) | |
| 3 | g.38587506A>C | CA352143406 | SCN5A | c.2330T>G (p.Phe777Cys) c.2201T>G (p.Phe734Cys) | |
| 3 | g.38587506A>G | CA352143407 | SCN5A | c.2330T>C (p.Phe777Ser) c.2201T>C (p.Phe734Ser) | |
| 3 | g.38587506A>T | CA016084 | SCN5A | c.2330T>A (p.Phe777Tyr) c.2201T>A (p.Phe734Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587507A>C | CA352143408 | SCN5A | c.2329T>G (p.Phe777Val) c.2200T>G (p.Phe734Val) | |
| 3 | g.38587507A>G | CA352143410 | SCN5A | c.2329T>C (p.Phe777Leu) c.2200T>C (p.Phe734Leu) | |
| 3 | g.38587507A>T | CA352143409 | SCN5A | c.2329T>A (p.Phe777Ile) c.2200T>A (p.Phe734Ile) | |
| 3 | g.38587515_38587517del | CA2586972032 | SCN5A | c.2327_2329del (p.Tyr776del) c.2198_2200del (p.Tyr733del) | |
| 3 | g.38587508G>A | CA433136346 | SCN5A | c.2328C>T (p.Tyr776=) c.2199C>T (p.Tyr733=) | ClinVar dbSNP |
| 3 | g.38587508G>C | CA352143411 | SCN5A | c.2328C>G (p.Tyr776Ter) c.2199C>G (p.Tyr733Ter) | |
| 3 | g.38587508G= | CA1358578187 | SCN5A | c.2328C= (p.Tyr776=) c.2199C= (p.Tyr733=) | |
| 3 | g.38587508G>T | CA352143412 | SCN5A | c.2328C>A (p.Tyr776Ter) c.2199C>A (p.Tyr733Ter) | |
| 3 | g.38587509T>A | CA352143413 | SCN5A | c.2327A>T (p.Tyr776Phe) c.2198A>T (p.Tyr733Phe) | |
| 3 | g.38587509T>C | CA352143414 | SCN5A | c.2327A>G (p.Tyr776Cys) c.2198A>G (p.Tyr733Cys) | |
| 3 | g.38587509T>G | CA352143415 | SCN5A | c.2327A>C (p.Tyr776Ser) c.2198A>C (p.Tyr733Ser) | |
| 3 | g.38587510A>C | CA352143416 | SCN5A | c.2326T>G (p.Tyr776Asp) c.2197T>G (p.Tyr733Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38587510A>G | CA352143417 | SCN5A | c.2326T>C (p.Tyr776His) c.2197T>C (p.Tyr733His) | |
| 3 | g.38587510A>T | CA352143418 | SCN5A | c.2326T>A (p.Tyr776Asn) c.2197T>A (p.Tyr733Asn) |