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.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) | |
| 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=) |