Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38587428_38587435delinsGA | CA2586972030 | SCN5A | c.2401_2408delinsTC (p.Met801_Asn803delinsSer) c.2272_2279delinsTC (p.Met758_Asn760delinsSer) | |
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) | |
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=) |