WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555705A= | CA1358562917 | SCN5A | c.4490T= (p.Met1497=) c.4493T= (p.Met1498=) c.4439T= (p.Met1480=) c.4331T= (p.Met1444=) c.4364T= (p.Met1455=) c.4436T= (p.Met1479=) | |
| 3 | g.38555705A>C | CA352144278 | SCN5A | c.4490T>G (p.Met1497Arg) c.4493T>G (p.Met1498Arg) c.4439T>G (p.Met1480Arg) c.4331T>G (p.Met1444Arg) c.4364T>G (p.Met1455Arg) c.4436T>G (p.Met1479Arg) | |
| 3 | g.38555705A>G | CA018346 | SCN5A | c.4490T>C (p.Met1497Thr) c.4493T>C (p.Met1498Thr) c.4439T>C (p.Met1480Thr) c.4331T>C (p.Met1444Thr) c.4364T>C (p.Met1455Thr) c.4436T>C (p.Met1479Thr) | ClinVar dbSNP |
| 3 | g.38555705A>T | CA352144279 | SCN5A | c.4490T>A (p.Met1497Lys) c.4493T>A (p.Met1498Lys) c.4439T>A (p.Met1480Lys) c.4331T>A (p.Met1444Lys) c.4364T>A (p.Met1455Lys) c.4436T>A (p.Met1479Lys) | |
| 3 | g.38555706T>A | CA352144281 | SCN5A | c.4489A>T (p.Met1497Leu) c.4492A>T (p.Met1498Leu) c.4438A>T (p.Met1480Leu) c.4330A>T (p.Met1444Leu) c.4363A>T (p.Met1455Leu) c.4435A>T (p.Met1479Leu) | |
| 3 | g.38555706T>C | CA018339 | SCN5A | c.4489A>G (p.Met1497Val) c.4492A>G (p.Met1498Val) c.4438A>G (p.Met1480Val) c.4330A>G (p.Met1444Val) c.4363A>G (p.Met1455Val) c.4435A>G (p.Met1479Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38555706T>G | CA352144280 | SCN5A | c.4489A>C (p.Met1497Leu) c.4492A>C (p.Met1498Leu) c.4438A>C (p.Met1480Leu) c.4330A>C (p.Met1444Leu) c.4363A>C (p.Met1455Leu) c.4435A>C (p.Met1479Leu) | |
| 3 | g.38555706T= | CA1358562922 | SCN5A | c.4489A= (p.Met1497=) c.4492A= (p.Met1498=) c.4438A= (p.Met1480=) c.4330A= (p.Met1444=) c.4363A= (p.Met1455=) c.4435A= (p.Met1479=) | |
| 3 | g.38555707G>A | CA433135735 | SCN5A | c.4488C>T (p.Ala1496=) c.4491C>T (p.Ala1497=) c.4437C>T (p.Ala1479=) c.4329C>T (p.Ala1443=) c.4362C>T (p.Ala1454=) c.4434C>T (p.Ala1478=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555707G>C | CA433135737 | SCN5A | c.4488C>G (p.Ala1496=) c.4491C>G (p.Ala1497=) c.4437C>G (p.Ala1479=) c.4329C>G (p.Ala1443=) c.4362C>G (p.Ala1454=) c.4434C>G (p.Ala1478=) | |
| 3 | g.38555707G= | CA1358562926 | SCN5A | c.4488C= (p.Ala1496=) c.4491C= (p.Ala1497=) c.4437C= (p.Ala1479=) c.4329C= (p.Ala1443=) c.4362C= (p.Ala1454=) c.4434C= (p.Ala1478=) | |
| 3 | g.38555707G>T | CA433135736 | SCN5A | c.4488C>A (p.Ala1496=) c.4491C>A (p.Ala1497=) c.4437C>A (p.Ala1479=) c.4329C>A (p.Ala1443=) c.4362C>A (p.Ala1454=) c.4434C>A (p.Ala1478=) | |
| 3 | g.38555708G>A | CA352144282 | SCN5A | c.4487C>T (p.Ala1496Val) c.4490C>T (p.Ala1497Val) c.4436C>T (p.Ala1479Val) c.4328C>T (p.Ala1443Val) c.4361C>T (p.Ala1454Val) c.4433C>T (p.Ala1478Val) | |
| 3 | g.38555708G>C | CA352144283 | SCN5A | c.4487C>G (p.Ala1496Gly) c.4490C>G (p.Ala1497Gly) c.4436C>G (p.Ala1479Gly) c.4328C>G (p.Ala1443Gly) c.4361C>G (p.Ala1454Gly) c.4433C>G (p.Ala1478Gly) | |
| 3 | g.38555708G>T | CA352144284 | SCN5A | c.4487C>A (p.Ala1496Asp) c.4490C>A (p.Ala1497Asp) c.4436C>A (p.Ala1479Asp) c.4328C>A (p.Ala1443Asp) c.4361C>A (p.Ala1454Asp) c.4433C>A (p.Ala1478Asp) | |
| 3 | g.38555709C>A | CA352144285 | SCN5A | c.4486G>T (p.Ala1496Ser) c.4489G>T (p.Ala1497Ser) c.4435G>T (p.Ala1479Ser) c.4327G>T (p.Ala1443Ser) c.4360G>T (p.Ala1454Ser) c.4432G>T (p.Ala1478Ser) | |
| 3 | g.38555709C= | CA1358562927 | SCN5A | c.4486G= (p.Ala1496=) c.4489G= (p.Ala1497=) c.4435G= (p.Ala1479=) c.4327G= (p.Ala1443=) c.4360G= (p.Ala1454=) c.4432G= (p.Ala1478=) | |
| 3 | g.38555709C>G | CA352144286 | SCN5A | c.4486G>C (p.Ala1496Pro) c.4489G>C (p.Ala1497Pro) c.4435G>C (p.Ala1479Pro) c.4327G>C (p.Ala1443Pro) c.4360G>C (p.Ala1454Pro) c.4432G>C (p.Ala1478Pro) | ClinVar |
| 3 | g.38555709C>T | CA352144287 | SCN5A | c.4486G>A (p.Ala1496Thr) c.4489G>A (p.Ala1497Thr) c.4435G>A (p.Ala1479Thr) c.4327G>A (p.Ala1443Thr) c.4360G>A (p.Ala1454Thr) c.4432G>A (p.Ala1478Thr) | dbSNP |
| 3 | g.38555710A>C | CA352144288 | SCN5A | c.4485T>G (p.Asn1495Lys) c.4488T>G (p.Asn1496Lys) c.4434T>G (p.Asn1478Lys) c.4326T>G (p.Asn1442Lys) c.4359T>G (p.Asn1453Lys) c.4431T>G (p.Asn1477Lys) | |
| 3 | g.38555710A>G | CA433135743 | SCN5A | c.4485T>C (p.Asn1495=) c.4488T>C (p.Asn1496=) c.4434T>C (p.Asn1478=) c.4326T>C (p.Asn1442=) c.4359T>C (p.Asn1453=) c.4431T>C (p.Asn1477=) | gnomAD v4 |
| 3 | g.38555710A>T | CA352144289 | SCN5A | c.4485T>A (p.Asn1495Lys) c.4488T>A (p.Asn1496Lys) c.4434T>A (p.Asn1478Lys) c.4326T>A (p.Asn1442Lys) c.4359T>A (p.Asn1453Lys) c.4431T>A (p.Asn1477Lys) | |
| 3 | g.38555711T>A | CA352144290 | SCN5A | c.4484A>T (p.Asn1495Ile) c.4487A>T (p.Asn1496Ile) c.4433A>T (p.Asn1478Ile) c.4325A>T (p.Asn1442Ile) c.4358A>T (p.Asn1453Ile) c.4430A>T (p.Asn1477Ile) | |
| 3 | g.38555711T>C | CA352144291 | SCN5A | c.4484A>G (p.Asn1495Ser) c.4487A>G (p.Asn1496Ser) c.4433A>G (p.Asn1478Ser) c.4325A>G (p.Asn1442Ser) c.4358A>G (p.Asn1453Ser) c.4430A>G (p.Asn1477Ser) | |
| 3 | g.38555711T>G | CA352144292 | SCN5A | c.4484A>C (p.Asn1495Thr) c.4487A>C (p.Asn1496Thr) c.4433A>C (p.Asn1478Thr) c.4325A>C (p.Asn1442Thr) c.4358A>C (p.Asn1453Thr) c.4430A>C (p.Asn1477Thr) | |
| 3 | g.38555712T>A | CA352144293 | SCN5A | c.4483A>T (p.Asn1495Tyr) c.4486A>T (p.Asn1496Tyr) c.4432A>T (p.Asn1478Tyr) c.4324A>T (p.Asn1442Tyr) c.4357A>T (p.Asn1453Tyr) c.4429A>T (p.Asn1477Tyr) | |
| 3 | g.38555712T>C | CA72943048 | SCN5A | c.4483A>G (p.Asn1495Asp) c.4486A>G (p.Asn1496Asp) c.4432A>G (p.Asn1478Asp) c.4324A>G (p.Asn1442Asp) c.4357A>G (p.Asn1453Asp) c.4429A>G (p.Asn1477Asp) | dbSNP |
| 3 | g.38555712T>G | CA352144294 | SCN5A | c.4483A>C (p.Asn1495His) c.4486A>C (p.Asn1496His) c.4432A>C (p.Asn1478His) c.4324A>C (p.Asn1442His) c.4357A>C (p.Asn1453His) c.4429A>C (p.Asn1477His) | |
| 3 | g.38555712T= | CA1358562929 | SCN5A | c.4483A= (p.Asn1495=) c.4486A= (p.Asn1496=) c.4432A= (p.Asn1478=) c.4324A= (p.Asn1442=) c.4357A= (p.Asn1453=) c.4429A= (p.Asn1477=) | |
| 3 | g.38555713G>A | CA433135750 | SCN5A | c.4482C>T (p.Tyr1494=) c.4485C>T (p.Tyr1495=) c.4431C>T (p.Tyr1477=) c.4323C>T (p.Tyr1441=) c.4356C>T (p.Tyr1452=) c.4428C>T (p.Tyr1476=) | ClinVar gnomAD v4 |
| 3 | g.38555713G>C | CA352144297 | SCN5A | c.4482C>G (p.Tyr1494Ter) c.4485C>G (p.Tyr1495Ter) c.4431C>G (p.Tyr1477Ter) c.4323C>G (p.Tyr1441Ter) c.4356C>G (p.Tyr1452Ter) c.4428C>G (p.Tyr1476Ter) | |
| 3 | g.38555713G>T | CA352144295 | SCN5A | c.4482C>A (p.Tyr1494Ter) c.4485C>A (p.Tyr1495Ter) c.4431C>A (p.Tyr1477Ter) c.4323C>A (p.Tyr1441Ter) c.4356C>A (p.Tyr1452Ter) c.4428C>A (p.Tyr1476Ter) | |
| 3 | g.38555714T>A | CA352144299 | SCN5A | c.4481A>T (p.Tyr1494Phe) c.4484A>T (p.Tyr1495Phe) c.4430A>T (p.Tyr1477Phe) c.4322A>T (p.Tyr1441Phe) c.4355A>T (p.Tyr1452Phe) c.4427A>T (p.Tyr1476Phe) | |
| 3 | g.38555714T>C | CA72943054 | SCN5A | c.4481A>G (p.Tyr1494Cys) c.4484A>G (p.Tyr1495Cys) c.4430A>G (p.Tyr1477Cys) c.4322A>G (p.Tyr1441Cys) c.4355A>G (p.Tyr1452Cys) c.4427A>G (p.Tyr1476Cys) | ClinVar dbSNP |
| 3 | g.38555714T>G | CA018330 | SCN5A | c.4481A>C (p.Tyr1494Ser) c.4484A>C (p.Tyr1495Ser) c.4430A>C (p.Tyr1477Ser) c.4322A>C (p.Tyr1441Ser) c.4355A>C (p.Tyr1452Ser) c.4427A>C (p.Tyr1476Ser) | ClinVar dbSNP |
| 3 | g.38555714T= | CA1358562935 | SCN5A | c.4481A= (p.Tyr1494=) c.4484A= (p.Tyr1495=) c.4430A= (p.Tyr1477=) c.4322A= (p.Tyr1441=) c.4355A= (p.Tyr1452=) c.4427A= (p.Tyr1476=) | |
| 3 | g.38555715A>C | CA352144300 | SCN5A | c.4480T>G (p.Tyr1494Asp) c.4483T>G (p.Tyr1495Asp) c.4429T>G (p.Tyr1477Asp) c.4321T>G (p.Tyr1441Asp) c.4354T>G (p.Tyr1452Asp) c.4426T>G (p.Tyr1476Asp) | |
| 3 | g.38555715A>G | CA352144301 | SCN5A | c.4480T>C (p.Tyr1494His) c.4483T>C (p.Tyr1495His) c.4429T>C (p.Tyr1477His) c.4321T>C (p.Tyr1441His) c.4354T>C (p.Tyr1452His) c.4426T>C (p.Tyr1476His) | |
| 3 | g.38555715A>T | CA352144302 | SCN5A | c.4480T>A (p.Tyr1494Asn) c.4483T>A (p.Tyr1495Asn) c.4429T>A (p.Tyr1477Asn) c.4321T>A (p.Tyr1441Asn) c.4354T>A (p.Tyr1452Asn) c.4426T>A (p.Tyr1476Asn) | |
| 3 | g.38555716G>A | CA433135763 | SCN5A | c.4479C>T (p.Tyr1493=) c.4482C>T (p.Tyr1494=) c.4428C>T (p.Tyr1476=) c.4320C>T (p.Tyr1440=) c.4353C>T (p.Tyr1451=) c.4425C>T (p.Tyr1475=) | |
| 3 | g.38555716G>C | CA352144304 | SCN5A | c.4479C>G (p.Tyr1493Ter) c.4482C>G (p.Tyr1494Ter) c.4428C>G (p.Tyr1476Ter) c.4320C>G (p.Tyr1440Ter) c.4353C>G (p.Tyr1451Ter) c.4425C>G (p.Tyr1475Ter) | |
| 3 | g.38555716G>T | CA352144303 | SCN5A | c.4479C>A (p.Tyr1493Ter) c.4482C>A (p.Tyr1494Ter) c.4428C>A (p.Tyr1476Ter) c.4320C>A (p.Tyr1440Ter) c.4353C>A (p.Tyr1451Ter) c.4425C>A (p.Tyr1475Ter) | |
| 3 | g.38555717T>A | CA352144305 | SCN5A | c.4478A>T (p.Tyr1493Phe) c.4481A>T (p.Tyr1494Phe) c.4427A>T (p.Tyr1476Phe) c.4319A>T (p.Tyr1440Phe) c.4352A>T (p.Tyr1451Phe) c.4424A>T (p.Tyr1475Phe) | |
| 3 | g.38555717T>C | CA352144306 | SCN5A | c.4478A>G (p.Tyr1493Cys) c.4481A>G (p.Tyr1494Cys) c.4427A>G (p.Tyr1476Cys) c.4319A>G (p.Tyr1440Cys) c.4352A>G (p.Tyr1451Cys) c.4424A>G (p.Tyr1475Cys) | |
| 3 | g.38555717T>G | CA352144307 | SCN5A | c.4478A>C (p.Tyr1493Ser) c.4481A>C (p.Tyr1494Ser) c.4427A>C (p.Tyr1476Ser) c.4319A>C (p.Tyr1440Ser) c.4352A>C (p.Tyr1451Ser) c.4424A>C (p.Tyr1475Ser) | |
| 3 | g.38555718A= | CA1358562940 | SCN5A | c.4477T= (p.Tyr1493=) c.4480T= (p.Tyr1494=) c.4426T= (p.Tyr1476=) c.4318T= (p.Tyr1440=) c.4351T= (p.Tyr1451=) c.4423T= (p.Tyr1475=) | |
| 3 | g.38555718A>C | CA352144308 | SCN5A | c.4477T>G (p.Tyr1493Asp) c.4480T>G (p.Tyr1494Asp) c.4426T>G (p.Tyr1476Asp) c.4318T>G (p.Tyr1440Asp) c.4351T>G (p.Tyr1451Asp) c.4423T>G (p.Tyr1475Asp) | |
| 3 | g.38555718A>G | CA352144309 | SCN5A | c.4477T>C (p.Tyr1493His) c.4480T>C (p.Tyr1494His) c.4426T>C (p.Tyr1476His) c.4318T>C (p.Tyr1440His) c.4351T>C (p.Tyr1451His) c.4423T>C (p.Tyr1475His) | |
| 3 | g.38555718A>T | CA018323 | SCN5A | c.4477T>A (p.Tyr1493Asn) c.4480T>A (p.Tyr1494Asn) c.4426T>A (p.Tyr1476Asn) c.4318T>A (p.Tyr1440Asn) c.4351T>A (p.Tyr1451Asn) c.4423T>A (p.Tyr1475Asn) | ClinVar dbSNP |
| 3 | g.38555718_38555721delinsACTT | CA1358562942 | SCN5A | c.4474_4477delinsAAGT (p.Lys1492=) c.4477_4480delinsAAGT (p.Lys1493=) c.4423_4426delinsAAGT (p.Lys1475=) c.4315_4318delinsAAGT (p.Lys1439=) c.4348_4351delinsAAGT (p.Lys1450=) c.4420_4423delinsAAGT (p.Lys1474=) |