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.38556491T>A | CA018194 | SCN5A | c.4384A>T (p.Asn1462Tyr) c.4387A>T (p.Asn1463Tyr) c.4333A>T (p.Asn1445Tyr) c.4225A>T (p.Asn1409Tyr) c.4258A>T (p.Asn1420Tyr) c.4330A>T (p.Asn1444Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556491T>C | CA352145316 | SCN5A | c.4384A>G (p.Asn1462Asp) c.4387A>G (p.Asn1463Asp) c.4333A>G (p.Asn1445Asp) c.4225A>G (p.Asn1409Asp) c.4258A>G (p.Asn1420Asp) c.4330A>G (p.Asn1444Asp) | |
| 3 | g.38556491T>G | CA352145315 | SCN5A | c.4384A>C (p.Asn1462His) c.4387A>C (p.Asn1463His) c.4333A>C (p.Asn1445His) c.4225A>C (p.Asn1409His) c.4258A>C (p.Asn1420His) c.4330A>C (p.Asn1444His) | |
| 3 | g.38556491T= | CA1358563461 | SCN5A | c.4384A= (p.Asn1462=) c.4387A= (p.Asn1463=) c.4333A= (p.Asn1445=) c.4225A= (p.Asn1409=) c.4258A= (p.Asn1420=) c.4330A= (p.Asn1444=) | |
| 3 | g.38556492C>A | CA433136057 | SCN5A | c.4383G>T (p.Leu1461=) c.4386G>T (p.Leu1462=) c.4332G>T (p.Leu1444=) c.4224G>T (p.Leu1408=) c.4257G>T (p.Leu1419=) c.4329G>T (p.Leu1443=) | |
| 3 | g.38556492C>G | CA433136059 | SCN5A | c.4383G>C (p.Leu1461=) c.4386G>C (p.Leu1462=) c.4332G>C (p.Leu1444=) c.4224G>C (p.Leu1408=) c.4257G>C (p.Leu1419=) c.4329G>C (p.Leu1443=) | |
| 3 | g.38556492C>T | CA433136058 | SCN5A | c.4383G>A (p.Leu1461=) c.4386G>A (p.Leu1462=) c.4332G>A (p.Leu1444=) c.4224G>A (p.Leu1408=) c.4257G>A (p.Leu1419=) c.4329G>A (p.Leu1443=) | |
| 3 | g.38556493A>C | CA352145317 | SCN5A | c.4382T>G (p.Leu1461Arg) c.4385T>G (p.Leu1462Arg) c.4331T>G (p.Leu1444Arg) c.4223T>G (p.Leu1408Arg) c.4256T>G (p.Leu1419Arg) c.4328T>G (p.Leu1443Arg) | |
| 3 | g.38556493A>G | CA352145319 | SCN5A | c.4382T>C (p.Leu1461Pro) c.4385T>C (p.Leu1462Pro) c.4331T>C (p.Leu1444Pro) c.4223T>C (p.Leu1408Pro) c.4256T>C (p.Leu1419Pro) c.4328T>C (p.Leu1443Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556493A>T | CA352145318 | SCN5A | c.4382T>A (p.Leu1461Gln) c.4385T>A (p.Leu1462Gln) c.4331T>A (p.Leu1444Gln) c.4223T>A (p.Leu1408Gln) c.4256T>A (p.Leu1419Gln) c.4328T>A (p.Leu1443Gln) | |
| 3 | g.38556493_38556494delinsAG | CA1358563463 | SCN5A | c.4381_4382delinsCT (p.Leu1461=) c.4384_4385delinsCT (p.Leu1462=) c.4330_4331delinsCT (p.Leu1444=) c.4222_4223delinsCT (p.Leu1408=) c.4255_4256delinsCT (p.Leu1419=) c.4327_4328delinsCT (p.Leu1443=) | |
| 3 | g.38556494G>A | CA433136060 | SCN5A | c.4381C>T (p.Leu1461=) c.4384C>T (p.Leu1462=) c.4330C>T (p.Leu1444=) c.4222C>T (p.Leu1408=) c.4255C>T (p.Leu1419=) c.4327C>T (p.Leu1443=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556494G>C | CA352145320 | SCN5A | c.4381C>G (p.Leu1461Val) c.4384C>G (p.Leu1462Val) c.4330C>G (p.Leu1444Val) c.4222C>G (p.Leu1408Val) c.4255C>G (p.Leu1419Val) c.4327C>G (p.Leu1443Val) | |
| 3 | g.38556494G= | CA1358563465 | SCN5A | c.4381C= (p.Leu1461=) c.4384C= (p.Leu1462=) c.4330C= (p.Leu1444=) c.4222C= (p.Leu1408=) c.4255C= (p.Leu1419=) c.4327C= (p.Leu1443=) | |
| 3 | g.38556494G>T | CA352145321 | SCN5A | c.4381C>A (p.Leu1461Met) c.4384C>A (p.Leu1462Met) c.4330C>A (p.Leu1444Met) c.4222C>A (p.Leu1408Met) c.4255C>A (p.Leu1419Met) c.4327C>A (p.Leu1443Met) | gnomAD v4 |
| 3 | g.38556496del | CA658796277 | SCN5A | c.4381del (p.Leu1461Ter) c.4384del (p.Leu1462Ter) c.4330del (p.Leu1444Ter) c.4222del (p.Leu1408Ter) c.4255del (p.Leu1419Ter) c.4327del (p.Leu1443Ter) | ClinVar dbSNP |
| 3 | g.38556495G>A | CA433136061 | SCN5A | c.4380C>T (p.Thr1460=) c.4383C>T (p.Thr1461=) c.4329C>T (p.Thr1443=) c.4221C>T (p.Thr1407=) c.4254C>T (p.Thr1418=) c.4326C>T (p.Thr1442=) | ClinVar gnomAD v4 |
| 3 | g.38556495G>C | CA433136062 | SCN5A | c.4380C>G (p.Thr1460=) c.4383C>G (p.Thr1461=) c.4329C>G (p.Thr1443=) c.4221C>G (p.Thr1407=) c.4254C>G (p.Thr1418=) c.4326C>G (p.Thr1442=) | |
| 3 | g.38556495G>T | CA433136063 | SCN5A | c.4380C>A (p.Thr1460=) c.4383C>A (p.Thr1461=) c.4329C>A (p.Thr1443=) c.4221C>A (p.Thr1407=) c.4254C>A (p.Thr1418=) c.4326C>A (p.Thr1442=) | |
| 3 | g.38556496G>A | CA352145322 | SCN5A | c.4379C>T (p.Thr1460Ile) c.4382C>T (p.Thr1461Ile) c.4328C>T (p.Thr1443Ile) c.4220C>T (p.Thr1407Ile) c.4253C>T (p.Thr1418Ile) c.4325C>T (p.Thr1442Ile) | gnomAD v4 |
| 3 | g.38556496G>C | CA352145324 | SCN5A | c.4379C>G (p.Thr1460Ser) c.4382C>G (p.Thr1461Ser) c.4328C>G (p.Thr1443Ser) c.4220C>G (p.Thr1407Ser) c.4253C>G (p.Thr1418Ser) c.4325C>G (p.Thr1442Ser) | |
| 3 | g.38556496G>T | CA352145323 | SCN5A | c.4379C>A (p.Thr1460Asn) c.4382C>A (p.Thr1461Asn) c.4328C>A (p.Thr1443Asn) c.4220C>A (p.Thr1407Asn) c.4253C>A (p.Thr1418Asn) c.4325C>A (p.Thr1442Asn) | |
| 3 | g.38556497T>A | CA352145325 | SCN5A | c.4378A>T (p.Thr1460Ser) c.4381A>T (p.Thr1461Ser) c.4327A>T (p.Thr1443Ser) c.4219A>T (p.Thr1407Ser) c.4252A>T (p.Thr1418Ser) c.4324A>T (p.Thr1442Ser) | |
| 3 | g.38556497T>C | CA352145326 | SCN5A | c.4378A>G (p.Thr1460Ala) c.4381A>G (p.Thr1461Ala) c.4327A>G (p.Thr1443Ala) c.4219A>G (p.Thr1407Ala) c.4252A>G (p.Thr1418Ala) c.4324A>G (p.Thr1442Ala) | |
| 3 | g.38556497T>G | CA352145327 | SCN5A | c.4378A>C (p.Thr1460Pro) c.4381A>C (p.Thr1461Pro) c.4327A>C (p.Thr1443Pro) c.4219A>C (p.Thr1407Pro) c.4252A>C (p.Thr1418Pro) c.4324A>C (p.Thr1442Pro) | |
| 3 | g.38556498G>A | CA433136070 | SCN5A | c.4377C>T (p.Phe1459=) c.4380C>T (p.Phe1460=) c.4326C>T (p.Phe1442=) c.4218C>T (p.Phe1406=) c.4251C>T (p.Phe1417=) c.4323C>T (p.Phe1441=) | |
| 3 | g.38556498G>C | CA352145328 | SCN5A | c.4377C>G (p.Phe1459Leu) c.4380C>G (p.Phe1460Leu) c.4326C>G (p.Phe1442Leu) c.4218C>G (p.Phe1406Leu) c.4251C>G (p.Phe1417Leu) c.4323C>G (p.Phe1441Leu) | |
| 3 | g.38556498G>T | CA352145329 | SCN5A | c.4377C>A (p.Phe1459Leu) c.4380C>A (p.Phe1460Leu) c.4326C>A (p.Phe1442Leu) c.4218C>A (p.Phe1406Leu) c.4251C>A (p.Phe1417Leu) c.4323C>A (p.Phe1441Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38556499A>C | CA352145330 | SCN5A | c.4376T>G (p.Phe1459Cys) c.4379T>G (p.Phe1460Cys) c.4325T>G (p.Phe1442Cys) c.4217T>G (p.Phe1406Cys) c.4250T>G (p.Phe1417Cys) c.4322T>G (p.Phe1441Cys) | |
| 3 | g.38556499A>G | CA352145331 | SCN5A | c.4376T>C (p.Phe1459Ser) c.4379T>C (p.Phe1460Ser) c.4325T>C (p.Phe1442Ser) c.4217T>C (p.Phe1406Ser) c.4250T>C (p.Phe1417Ser) c.4322T>C (p.Phe1441Ser) | |
| 3 | g.38556499A>T | CA352145332 | SCN5A | c.4376T>A (p.Phe1459Tyr) c.4379T>A (p.Phe1460Tyr) c.4325T>A (p.Phe1442Tyr) c.4217T>A (p.Phe1406Tyr) c.4250T>A (p.Phe1417Tyr) c.4322T>A (p.Phe1441Tyr) | |
| 3 | g.38556503_38556506del | CA2586965726 | SCN5A | c.4373_4376del (p.Phe1458SerfsTer3) c.4376_4379del (p.Phe1459SerfsTer3) c.4322_4325del (p.Phe1441SerfsTer3) c.4214_4217del (p.Phe1405SerfsTer3) c.4247_4250del (p.Phe1416SerfsTer3) c.4319_4322del (p.Phe1440SerfsTer3) | |
| 3 | g.38556500A>C | CA352145333 | SCN5A | c.4375T>G (p.Phe1459Val) c.4378T>G (p.Phe1460Val) c.4324T>G (p.Phe1442Val) c.4216T>G (p.Phe1406Val) c.4249T>G (p.Phe1417Val) c.4321T>G (p.Phe1441Val) | COSMIC COSMIC COSMIC |
| 3 | g.38556500A>G | CA352145334 | SCN5A | c.4375T>C (p.Phe1459Leu) c.4378T>C (p.Phe1460Leu) c.4324T>C (p.Phe1442Leu) c.4216T>C (p.Phe1406Leu) c.4249T>C (p.Phe1417Leu) c.4321T>C (p.Phe1441Leu) | |
| 3 | g.38556500A>T | CA352145335 | SCN5A | c.4375T>A (p.Phe1459Ile) c.4378T>A (p.Phe1460Ile) c.4324T>A (p.Phe1442Ile) c.4216T>A (p.Phe1406Ile) c.4249T>A (p.Phe1417Ile) c.4321T>A (p.Phe1441Ile) | |
| 3 | g.38556501G>A | CA433136075 | SCN5A | c.4374C>T (p.Phe1458=) c.4377C>T (p.Phe1459=) c.4323C>T (p.Phe1441=) c.4215C>T (p.Phe1405=) c.4248C>T (p.Phe1416=) c.4320C>T (p.Phe1440=) | |
| 3 | g.38556501G>C | CA352145336 | SCN5A | c.4374C>G (p.Phe1458Leu) c.4377C>G (p.Phe1459Leu) c.4323C>G (p.Phe1441Leu) c.4215C>G (p.Phe1405Leu) c.4248C>G (p.Phe1416Leu) c.4320C>G (p.Phe1440Leu) | |
| 3 | g.38556501G>T | CA352145337 | SCN5A | c.4374C>A (p.Phe1458Leu) c.4377C>A (p.Phe1459Leu) c.4323C>A (p.Phe1441Leu) c.4215C>A (p.Phe1405Leu) c.4248C>A (p.Phe1416Leu) c.4320C>A (p.Phe1440Leu) | |
| 3 | g.38556502A>C | CA352145338 | SCN5A | c.4373T>G (p.Phe1458Cys) c.4376T>G (p.Phe1459Cys) c.4322T>G (p.Phe1441Cys) c.4214T>G (p.Phe1405Cys) c.4247T>G (p.Phe1416Cys) c.4319T>G (p.Phe1440Cys) | |
| 3 | g.38556502A>G | CA352145340 | SCN5A | c.4373T>C (p.Phe1458Ser) c.4376T>C (p.Phe1459Ser) c.4322T>C (p.Phe1441Ser) c.4214T>C (p.Phe1405Ser) c.4247T>C (p.Phe1416Ser) c.4319T>C (p.Phe1440Ser) | |
| 3 | g.38556502A>T | CA352145339 | SCN5A | c.4373T>A (p.Phe1458Tyr) c.4376T>A (p.Phe1459Tyr) c.4322T>A (p.Phe1441Tyr) c.4214T>A (p.Phe1405Tyr) c.4247T>A (p.Phe1416Tyr) c.4319T>A (p.Phe1440Tyr) | |
| 3 | g.38556504del | CA2573136305 | SCN5A | c.4373del (p.Phe1458SerfsTer4) c.4376del (p.Phe1459SerfsTer4) c.4322del (p.Phe1441SerfsTer4) c.4214del (p.Phe1405SerfsTer4) c.4247del (p.Phe1416SerfsTer4) c.4319del (p.Phe1440SerfsTer4) | ClinVar dbSNP |
| 3 | g.38556503A>C | CA352145341 | SCN5A | c.4372T>G (p.Phe1458Val) c.4375T>G (p.Phe1459Val) c.4321T>G (p.Phe1441Val) c.4213T>G (p.Phe1405Val) c.4246T>G (p.Phe1416Val) c.4318T>G (p.Phe1440Val) | |
| 3 | g.38556503A>G | CA352145342 | SCN5A | c.4372T>C (p.Phe1458Leu) c.4375T>C (p.Phe1459Leu) c.4321T>C (p.Phe1441Leu) c.4213T>C (p.Phe1405Leu) c.4246T>C (p.Phe1416Leu) c.4318T>C (p.Phe1440Leu) | |
| 3 | g.38556503A>T | CA352145343 | SCN5A | c.4372T>A (p.Phe1458Ile) c.4375T>A (p.Phe1459Ile) c.4321T>A (p.Phe1441Ile) c.4213T>A (p.Phe1405Ile) c.4246T>A (p.Phe1416Ile) c.4318T>A (p.Phe1440Ile) | |
| 3 | g.38556504A>C | CA433136077 | SCN5A | c.4371T>G (p.Ser1457=) c.4374T>G (p.Ser1458=) c.4320T>G (p.Ser1440=) c.4212T>G (p.Ser1404=) c.4245T>G (p.Ser1415=) c.4317T>G (p.Ser1439=) | |
| 3 | g.38556504A>G | CA433136078 | SCN5A | c.4371T>C (p.Ser1457=) c.4374T>C (p.Ser1458=) c.4320T>C (p.Ser1440=) c.4212T>C (p.Ser1404=) c.4245T>C (p.Ser1415=) c.4317T>C (p.Ser1439=) | |
| 3 | g.38556504A>T | CA433136079 | SCN5A | c.4371T>A (p.Ser1457=) c.4374T>A (p.Ser1458=) c.4320T>A (p.Ser1440=) c.4212T>A (p.Ser1404=) c.4245T>A (p.Ser1415=) c.4317T>A (p.Ser1439=) | |
| 3 | g.38556505G>A | CA352145344 | SCN5A | c.4370C>T (p.Ser1457Phe) c.4373C>T (p.Ser1458Phe) c.4319C>T (p.Ser1440Phe) c.4211C>T (p.Ser1404Phe) c.4244C>T (p.Ser1415Phe) c.4316C>T (p.Ser1439Phe) | |
| 3 | g.38556505G>C | CA352145345 | SCN5A | c.4370C>G (p.Ser1457Cys) c.4373C>G (p.Ser1458Cys) c.4319C>G (p.Ser1440Cys) c.4211C>G (p.Ser1404Cys) c.4244C>G (p.Ser1415Cys) c.4316C>G (p.Ser1439Cys) |