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.38554279_38554282dup | CA10586351 | SCN5A | c.4810+3_4810+6dup c.4813+3_4813+6dup c.4759+3_4759+6dup c.4651+3_4651+6dup c.4714+99_4714+102dup (n.4714+99_4714+102dup) n.271+3_271+6dup c.4684+3_4684+6dup c.4756+3_4756+6dup | ClinVar gnomAD v4 |
| 3 | g.38554282C>A | CA352143574 | SCN5A | c.4807G>T (p.Val1603Leu) c.4810G>T (p.Val1604Leu) c.4756G>T (p.Val1586Leu) c.4648G>T (p.Val1550Leu) c.4714+93G>T (n.4714+93G>T) n.268G>T c.4681G>T (p.Val1561Leu) c.4753G>T (p.Val1585Leu) | |
| 3 | g.38554282C= | CA1358563029 | SCN5A | c.4807G= (p.Val1603=) c.4810G= (p.Val1604=) c.4756G= (p.Val1586=) c.4648G= (p.Val1550=) c.4714+93G= (n.4714+93G=) n.268G= c.4681G= (p.Val1561=) c.4753G= (p.Val1585=) | |
| 3 | g.38554282C>G | CA352143575 | SCN5A | c.4807G>C (p.Val1603Leu) c.4810G>C (p.Val1604Leu) c.4756G>C (p.Val1586Leu) c.4648G>C (p.Val1550Leu) c.4714+93G>C (n.4714+93G>C) n.268G>C c.4681G>C (p.Val1561Leu) c.4753G>C (p.Val1585Leu) | |
| 3 | g.38554282C>T | CA018577 | SCN5A | c.4807G>A (p.Val1603Met) c.4810G>A (p.Val1604Met) c.4756G>A (p.Val1586Met) c.4648G>A (p.Val1550Met) c.4714+93G>A (n.4714+93G>A) n.268G>A c.4681G>A (p.Val1561Met) c.4753G>A (p.Val1585Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554283G>A | CA063642 | SCN5A | c.4806C>T (p.Ile1602=) c.4809C>T (p.Ile1603=) c.4755C>T (p.Ile1585=) c.4647C>T (p.Ile1549=) c.4714+92C>T (n.4714+92C>T) n.267C>T c.4680C>T (p.Ile1560=) c.4752C>T (p.Ile1584=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554283G>C | CA352143576 | SCN5A | c.4806C>G (p.Ile1602Met) c.4809C>G (p.Ile1603Met) c.4755C>G (p.Ile1585Met) c.4647C>G (p.Ile1549Met) c.4714+92C>G (n.4714+92C>G) n.267C>G c.4680C>G (p.Ile1560Met) c.4752C>G (p.Ile1584Met) | |
| 3 | g.38554283G= | CA1358563034 | SCN5A | c.4806C= (p.Ile1602=) c.4809C= (p.Ile1603=) c.4755C= (p.Ile1585=) c.4647C= (p.Ile1549=) c.4714+92C= (n.4714+92C=) n.267C= c.4680C= (p.Ile1560=) c.4752C= (p.Ile1584=) | |
| 3 | g.38554283G>T | CA433134483 | SCN5A | c.4806C>A (p.Ile1602=) c.4809C>A (p.Ile1603=) c.4755C>A (p.Ile1585=) c.4647C>A (p.Ile1549=) c.4714+92C>A (n.4714+92C>A) n.267C>A c.4680C>A (p.Ile1560=) c.4752C>A (p.Ile1584=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554284A>C | CA352143579 | SCN5A | c.4805T>G (p.Ile1602Ser) c.4808T>G (p.Ile1603Ser) c.4754T>G (p.Ile1585Ser) c.4646T>G (p.Ile1549Ser) c.4714+91T>G (n.4714+91T>G) n.266T>G c.4679T>G (p.Ile1560Ser) c.4751T>G (p.Ile1584Ser) | |
| 3 | g.38554284A>G | CA352143578 | SCN5A | c.4805T>C (p.Ile1602Thr) c.4808T>C (p.Ile1603Thr) c.4754T>C (p.Ile1585Thr) c.4646T>C (p.Ile1549Thr) c.4714+91T>C (n.4714+91T>C) n.266T>C c.4679T>C (p.Ile1560Thr) c.4751T>C (p.Ile1584Thr) | gnomAD v4 |
| 3 | g.38554284A>T | CA352143577 | SCN5A | c.4805T>A (p.Ile1602Asn) c.4808T>A (p.Ile1603Asn) c.4754T>A (p.Ile1585Asn) c.4646T>A (p.Ile1549Asn) c.4714+91T>A (n.4714+91T>A) n.266T>A c.4679T>A (p.Ile1560Asn) c.4751T>A (p.Ile1584Asn) | |
| 3 | g.38554285T>A | CA352143580 | SCN5A | c.4804A>T (p.Ile1602Phe) c.4807A>T (p.Ile1603Phe) c.4753A>T (p.Ile1585Phe) c.4645A>T (p.Ile1549Phe) c.4714+90A>T (n.4714+90A>T) n.265A>T c.4678A>T (p.Ile1560Phe) c.4750A>T (p.Ile1584Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554285T>C | CA352143581 | SCN5A | c.4804A>G (p.Ile1602Val) c.4807A>G (p.Ile1603Val) c.4753A>G (p.Ile1585Val) c.4645A>G (p.Ile1549Val) c.4714+90A>G (n.4714+90A>G) n.265A>G c.4678A>G (p.Ile1560Val) c.4750A>G (p.Ile1584Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554285T>G | CA352143582 | SCN5A | c.4804A>C (p.Ile1602Leu) c.4807A>C (p.Ile1603Leu) c.4753A>C (p.Ile1585Leu) c.4645A>C (p.Ile1549Leu) c.4714+90A>C (n.4714+90A>C) n.265A>C c.4678A>C (p.Ile1560Leu) c.4750A>C (p.Ile1584Leu) | |
| 3 | g.38554285T= | CA1358563039 | SCN5A | c.4804A= (p.Ile1602=) c.4807A= (p.Ile1603=) c.4753A= (p.Ile1585=) c.4645A= (p.Ile1549=) c.4714+90A= (n.4714+90A=) n.265A= c.4678A= (p.Ile1560=) c.4750A= (p.Ile1584=) | |
| 3 | g.38554286G>A | CA433134484 | SCN5A | c.4803C>T (p.Ser1601=) c.4806C>T (p.Ser1602=) c.4752C>T (p.Ser1584=) c.4644C>T (p.Ser1548=) c.4714+89C>T (n.4714+89C>T) n.264C>T c.4677C>T (p.Ser1559=) c.4749C>T (p.Ser1583=) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554286G>C | CA433134486 | SCN5A | c.4803C>G (p.Ser1601=) c.4806C>G (p.Ser1602=) c.4752C>G (p.Ser1584=) c.4644C>G (p.Ser1548=) c.4714+89C>G (n.4714+89C>G) n.264C>G c.4677C>G (p.Ser1559=) c.4749C>G (p.Ser1583=) | |
| 3 | g.38554286G>T | CA433134485 | SCN5A | c.4803C>A (p.Ser1601=) c.4806C>A (p.Ser1602=) c.4752C>A (p.Ser1584=) c.4644C>A (p.Ser1548=) c.4714+89C>A (n.4714+89C>A) n.264C>A c.4677C>A (p.Ser1559=) c.4749C>A (p.Ser1583=) | |
| 3 | g.38554287G>A | CA352143583 | SCN5A | c.4802C>T (p.Ser1601Phe) c.4805C>T (p.Ser1602Phe) c.4751C>T (p.Ser1584Phe) c.4643C>T (p.Ser1548Phe) c.4714+88C>T (n.4714+88C>T) n.263C>T c.4676C>T (p.Ser1559Phe) c.4748C>T (p.Ser1583Phe) | gnomAD v4 |
| 3 | g.38554287G>C | CA352143584 | SCN5A | c.4802C>G (p.Ser1601Cys) c.4805C>G (p.Ser1602Cys) c.4751C>G (p.Ser1584Cys) c.4643C>G (p.Ser1548Cys) c.4714+88C>G (n.4714+88C>G) n.263C>G c.4676C>G (p.Ser1559Cys) c.4748C>G (p.Ser1583Cys) | |
| 3 | g.38554287G>T | CA352143585 | SCN5A | c.4802C>A (p.Ser1601Tyr) c.4805C>A (p.Ser1602Tyr) c.4751C>A (p.Ser1584Tyr) c.4643C>A (p.Ser1548Tyr) c.4714+88C>A (n.4714+88C>A) n.263C>A c.4676C>A (p.Ser1559Tyr) c.4748C>A (p.Ser1583Tyr) | |
| 3 | g.38554288A>C | CA352143586 | SCN5A | c.4801T>G (p.Ser1601Ala) c.4804T>G (p.Ser1602Ala) c.4750T>G (p.Ser1584Ala) c.4642T>G (p.Ser1548Ala) c.4714+87T>G (n.4714+87T>G) n.262T>G c.4675T>G (p.Ser1559Ala) c.4747T>G (p.Ser1583Ala) | |
| 3 | g.38554288A>G | CA352143587 | SCN5A | c.4801T>C (p.Ser1601Pro) c.4804T>C (p.Ser1602Pro) c.4750T>C (p.Ser1584Pro) c.4642T>C (p.Ser1548Pro) c.4714+87T>C (n.4714+87T>C) n.262T>C c.4675T>C (p.Ser1559Pro) c.4747T>C (p.Ser1583Pro) | |
| 3 | g.38554288A>T | CA352143588 | SCN5A | c.4801T>A (p.Ser1601Thr) c.4804T>A (p.Ser1602Thr) c.4750T>A (p.Ser1584Thr) c.4642T>A (p.Ser1548Thr) c.4714+87T>A (n.4714+87T>A) n.262T>A c.4675T>A (p.Ser1559Thr) c.4747T>A (p.Ser1583Thr) | |
| 3 | g.38554289G>A | CA433134488 | SCN5A | c.4800C>T (p.Leu1600=) c.4803C>T (p.Leu1601=) c.4749C>T (p.Leu1583=) c.4641C>T (p.Leu1547=) c.4714+86C>T (n.4714+86C>T) n.261C>T c.4674C>T (p.Leu1558=) c.4746C>T (p.Leu1582=) | |
| 3 | g.38554289G>C | CA433134489 | SCN5A | c.4800C>G (p.Leu1600=) c.4803C>G (p.Leu1601=) c.4749C>G (p.Leu1583=) c.4641C>G (p.Leu1547=) c.4714+86C>G (n.4714+86C>G) n.261C>G c.4674C>G (p.Leu1558=) c.4746C>G (p.Leu1582=) | |
| 3 | g.38554289G>T | CA433134490 | SCN5A | c.4800C>A (p.Leu1600=) c.4803C>A (p.Leu1601=) c.4749C>A (p.Leu1583=) c.4641C>A (p.Leu1547=) c.4714+86C>A (n.4714+86C>A) n.261C>A c.4674C>A (p.Leu1558=) c.4746C>A (p.Leu1582=) | |
| 3 | g.38554290A= | CA1358563043 | SCN5A | c.4799T= (p.Leu1600=) c.4802T= (p.Leu1601=) c.4748T= (p.Leu1583=) c.4640T= (p.Leu1547=) c.4714+85T= (n.4714+85T=) n.260T= c.4673T= (p.Leu1558=) c.4745T= (p.Leu1582=) | |
| 3 | g.38554290A>C | CA352143589 | SCN5A | c.4799T>G (p.Leu1600Arg) c.4802T>G (p.Leu1601Arg) c.4748T>G (p.Leu1583Arg) c.4640T>G (p.Leu1547Arg) c.4714+85T>G (n.4714+85T>G) n.260T>G c.4673T>G (p.Leu1558Arg) c.4745T>G (p.Leu1582Arg) | |
| 3 | g.38554290A>G | CA352143590 | SCN5A | c.4799T>C (p.Leu1600Pro) c.4802T>C (p.Leu1601Pro) c.4748T>C (p.Leu1583Pro) c.4640T>C (p.Leu1547Pro) c.4714+85T>C (n.4714+85T>C) n.260T>C c.4673T>C (p.Leu1558Pro) c.4745T>C (p.Leu1582Pro) | |
| 3 | g.38554290A>T | CA352143591 | SCN5A | c.4799T>A (p.Leu1600His) c.4802T>A (p.Leu1601His) c.4748T>A (p.Leu1583His) c.4640T>A (p.Leu1547His) c.4714+85T>A (n.4714+85T>A) n.260T>A c.4673T>A (p.Leu1558His) c.4745T>A (p.Leu1582His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554291G>A | CA352143593 | SCN5A | c.4798C>T (p.Leu1600Phe) c.4801C>T (p.Leu1601Phe) c.4747C>T (p.Leu1583Phe) c.4639C>T (p.Leu1547Phe) c.4714+84C>T (n.4714+84C>T) n.259C>T c.4672C>T (p.Leu1558Phe) c.4744C>T (p.Leu1582Phe) | gnomAD v4 |
| 3 | g.38554291G>C | CA352143594 | SCN5A | c.4798C>G (p.Leu1600Val) c.4801C>G (p.Leu1601Val) c.4747C>G (p.Leu1583Val) c.4639C>G (p.Leu1547Val) c.4714+84C>G (n.4714+84C>G) n.259C>G c.4672C>G (p.Leu1558Val) c.4744C>G (p.Leu1582Val) | |
| 3 | g.38554291G>T | CA352143592 | SCN5A | c.4798C>A (p.Leu1600Ile) c.4801C>A (p.Leu1601Ile) c.4747C>A (p.Leu1583Ile) c.4639C>A (p.Leu1547Ile) c.4714+84C>A (n.4714+84C>A) n.259C>A c.4672C>A (p.Leu1558Ile) c.4744C>A (p.Leu1582Ile) | |
| 3 | g.38554292G>A | CA433134491 | SCN5A | c.4797C>T (p.Ile1599=) c.4800C>T (p.Ile1600=) c.4746C>T (p.Ile1582=) c.4638C>T (p.Ile1546=) c.4714+83C>T (n.4714+83C>T) n.258C>T c.4671C>T (p.Ile1557=) c.4743C>T (p.Ile1581=) | |
| 3 | g.38554292G>C | CA352143595 | SCN5A | c.4797C>G (p.Ile1599Met) c.4800C>G (p.Ile1600Met) c.4746C>G (p.Ile1582Met) c.4638C>G (p.Ile1546Met) c.4714+83C>G (n.4714+83C>G) n.258C>G c.4671C>G (p.Ile1557Met) c.4743C>G (p.Ile1581Met) | |
| 3 | g.38554292G>T | CA433134492 | SCN5A | c.4797C>A (p.Ile1599=) c.4800C>A (p.Ile1600=) c.4746C>A (p.Ile1582=) c.4638C>A (p.Ile1546=) c.4714+83C>A (n.4714+83C>A) n.258C>A c.4671C>A (p.Ile1557=) c.4743C>A (p.Ile1581=) | |
| 3 | g.38554292_38554293insT | CA2665110222 | SCN5A | c.4796_4797insA (p.Leu1600ProfsTer?) c.4799_4800insA (p.Leu1601ProfsTer?) c.4745_4746insA (p.Leu1583ProfsTer?) c.4637_4638insA (p.Leu1547ProfsTer?) c.4714+82_4714+83insA (n.4714+82_4714+83insA) n.257_258insA c.4670_4671insA (p.Leu1558ProfsTer?) c.4742_4743insA (p.Leu1582ProfsTer?) | gnomAD v4 |
| 3 | g.38554293A>C | CA352143596 | SCN5A | c.4796T>G (p.Ile1599Ser) c.4799T>G (p.Ile1600Ser) c.4745T>G (p.Ile1582Ser) c.4637T>G (p.Ile1546Ser) c.4714+82T>G (n.4714+82T>G) n.257T>G c.4670T>G (p.Ile1557Ser) c.4742T>G (p.Ile1581Ser) | |
| 3 | g.38554293A>G | CA352143597 | SCN5A | c.4796T>C (p.Ile1599Thr) c.4799T>C (p.Ile1600Thr) c.4745T>C (p.Ile1582Thr) c.4637T>C (p.Ile1546Thr) c.4714+82T>C (n.4714+82T>C) n.257T>C c.4670T>C (p.Ile1557Thr) c.4742T>C (p.Ile1581Thr) | ClinVar dbSNP |
| 3 | g.38554293A>T | CA352143598 | SCN5A | c.4796T>A (p.Ile1599Asn) c.4799T>A (p.Ile1600Asn) c.4745T>A (p.Ile1582Asn) c.4637T>A (p.Ile1546Asn) c.4714+82T>A (n.4714+82T>A) n.257T>A c.4670T>A (p.Ile1557Asn) c.4742T>A (p.Ile1581Asn) | |
| 3 | g.38554294T>A | CA352143601 | SCN5A | c.4795A>T (p.Ile1599Phe) c.4798A>T (p.Ile1600Phe) c.4744A>T (p.Ile1582Phe) c.4636A>T (p.Ile1546Phe) c.4714+81A>T (n.4714+81A>T) n.256A>T c.4669A>T (p.Ile1557Phe) c.4741A>T (p.Ile1581Phe) | ClinVar dbSNP |
| 3 | g.38554294T>C | CA352143600 | SCN5A | c.4795A>G (p.Ile1599Val) c.4798A>G (p.Ile1600Val) c.4744A>G (p.Ile1582Val) c.4636A>G (p.Ile1546Val) c.4714+81A>G (n.4714+81A>G) n.256A>G c.4669A>G (p.Ile1557Val) c.4741A>G (p.Ile1581Val) | |
| 3 | g.38554294T>G | CA352143599 | SCN5A | c.4795A>C (p.Ile1599Leu) c.4798A>C (p.Ile1600Leu) c.4744A>C (p.Ile1582Leu) c.4636A>C (p.Ile1546Leu) c.4714+81A>C (n.4714+81A>C) n.256A>C c.4669A>C (p.Ile1557Leu) c.4741A>C (p.Ile1581Leu) | |
| 3 | g.38554295G>A | CA433134493 | SCN5A | c.4794C>T (p.Val1598=) c.4797C>T (p.Val1599=) c.4743C>T (p.Val1581=) c.4635C>T (p.Val1545=) c.4714+80C>T (n.4714+80C>T) n.255C>T c.4668C>T (p.Val1556=) c.4740C>T (p.Val1580=) | |
| 3 | g.38554295G>C | CA433134494 | SCN5A | c.4794C>G (p.Val1598=) c.4797C>G (p.Val1599=) c.4743C>G (p.Val1581=) c.4635C>G (p.Val1545=) c.4714+80C>G (n.4714+80C>G) n.255C>G c.4668C>G (p.Val1556=) c.4740C>G (p.Val1580=) | |
| 3 | g.38554295G>T | CA433134495 | SCN5A | c.4794C>A (p.Val1598=) c.4797C>A (p.Val1599=) c.4743C>A (p.Val1581=) c.4635C>A (p.Val1545=) c.4714+80C>A (n.4714+80C>A) n.255C>A c.4668C>A (p.Val1556=) c.4740C>A (p.Val1580=) | |
| 3 | g.38554296A>C | CA352143602 | SCN5A | c.4793T>G (p.Val1598Gly) c.4796T>G (p.Val1599Gly) c.4742T>G (p.Val1581Gly) c.4634T>G (p.Val1545Gly) c.4714+79T>G (n.4714+79T>G) n.254T>G c.4667T>G (p.Val1556Gly) c.4739T>G (p.Val1580Gly) | |
| 3 | g.38554296A>G | CA352143603 | SCN5A | c.4793T>C (p.Val1598Ala) c.4796T>C (p.Val1599Ala) c.4742T>C (p.Val1581Ala) c.4634T>C (p.Val1545Ala) c.4714+79T>C (n.4714+79T>C) n.254T>C c.4667T>C (p.Val1556Ala) c.4739T>C (p.Val1580Ala) |