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.38554315T>A | CA352143640 | SCN5A | c.4774A>T (p.Ile1592Phe) c.4777A>T (p.Ile1593Phe) c.4723A>T (p.Ile1575Phe) c.4615A>T (p.Ile1539Phe) c.4714+60A>T (n.4714+60A>T) n.235A>T c.4648A>T (p.Ile1550Phe) c.4720A>T (p.Ile1574Phe) | |
| 3 | g.38554315T>C | CA352143638 | SCN5A | c.4774A>G (p.Ile1592Val) c.4777A>G (p.Ile1593Val) c.4723A>G (p.Ile1575Val) c.4615A>G (p.Ile1539Val) c.4714+60A>G (n.4714+60A>G) n.235A>G c.4648A>G (p.Ile1550Val) c.4720A>G (p.Ile1574Val) | |
| 3 | g.38554315T>G | CA352143639 | SCN5A | c.4774A>C (p.Ile1592Leu) c.4777A>C (p.Ile1593Leu) c.4723A>C (p.Ile1575Leu) c.4615A>C (p.Ile1539Leu) c.4714+60A>C (n.4714+60A>C) n.235A>C c.4648A>C (p.Ile1550Leu) c.4720A>C (p.Ile1574Leu) | |
| 3 | g.38554316A>C | CA352143641 | SCN5A | c.4773T>G (p.Asn1591Lys) c.4776T>G (p.Asn1592Lys) c.4722T>G (p.Asn1574Lys) c.4614T>G (p.Asn1538Lys) c.4714+59T>G (n.4714+59T>G) n.234T>G c.4647T>G (p.Asn1549Lys) c.4719T>G (p.Asn1573Lys) | |
| 3 | g.38554316A>G | CA433134517 | SCN5A | c.4773T>C (p.Asn1591=) c.4776T>C (p.Asn1592=) c.4722T>C (p.Asn1574=) c.4614T>C (p.Asn1538=) c.4714+59T>C (n.4714+59T>C) n.234T>C c.4647T>C (p.Asn1549=) c.4719T>C (p.Asn1573=) | |
| 3 | g.38554316A>T | CA352143642 | SCN5A | c.4773T>A (p.Asn1591Lys) c.4776T>A (p.Asn1592Lys) c.4722T>A (p.Asn1574Lys) c.4614T>A (p.Asn1538Lys) c.4714+59T>A (n.4714+59T>A) n.234T>A c.4647T>A (p.Asn1549Lys) c.4719T>A (p.Asn1573Lys) | |
| 3 | g.38554317T>A | CA352143643 | SCN5A | c.4772A>T (p.Asn1591Ile) c.4775A>T (p.Asn1592Ile) c.4721A>T (p.Asn1574Ile) c.4613A>T (p.Asn1538Ile) c.4714+58A>T (n.4714+58A>T) n.233A>T c.4646A>T (p.Asn1549Ile) c.4718A>T (p.Asn1573Ile) | |
| 3 | g.38554317T>C | CA352143644 | SCN5A | c.4772A>G (p.Asn1591Ser) c.4775A>G (p.Asn1592Ser) c.4721A>G (p.Asn1574Ser) c.4613A>G (p.Asn1538Ser) c.4714+58A>G (n.4714+58A>G) n.233A>G c.4646A>G (p.Asn1549Ser) c.4718A>G (p.Asn1573Ser) | |
| 3 | g.38554317T>G | CA352143645 | SCN5A | c.4772A>C (p.Asn1591Thr) c.4775A>C (p.Asn1592Thr) c.4721A>C (p.Asn1574Thr) c.4613A>C (p.Asn1538Thr) c.4714+58A>C (n.4714+58A>C) n.233A>C c.4646A>C (p.Asn1549Thr) c.4718A>C (p.Asn1573Thr) | |
| 3 | g.38554318T>A | CA352143646 | SCN5A | c.4771A>T (p.Asn1591Tyr) c.4774A>T (p.Asn1592Tyr) c.4720A>T (p.Asn1574Tyr) c.4612A>T (p.Asn1538Tyr) c.4714+57A>T (n.4714+57A>T) n.232A>T c.4645A>T (p.Asn1549Tyr) c.4717A>T (p.Asn1573Tyr) | ClinVar dbSNP |
| 3 | g.38554318T>C | CA352143648 | SCN5A | c.4771A>G (p.Asn1591Asp) c.4774A>G (p.Asn1592Asp) c.4720A>G (p.Asn1574Asp) c.4612A>G (p.Asn1538Asp) c.4714+57A>G (n.4714+57A>G) n.232A>G c.4645A>G (p.Asn1549Asp) c.4717A>G (p.Asn1573Asp) | |
| 3 | g.38554318T>G | CA352143647 | SCN5A | c.4771A>C (p.Asn1591His) c.4774A>C (p.Asn1592His) c.4720A>C (p.Asn1574His) c.4612A>C (p.Asn1538His) c.4714+57A>C (n.4714+57A>C) n.232A>C c.4645A>C (p.Asn1549His) c.4717A>C (p.Asn1573His) | |
| 3 | g.38554318T= | CA1358563124 | SCN5A | c.4771A= (p.Asn1591=) c.4774A= (p.Asn1592=) c.4720A= (p.Asn1574=) c.4612A= (p.Asn1538=) c.4714+57A= (n.4714+57A=) n.232A= c.4645A= (p.Asn1549=) c.4717A= (p.Asn1573=) | |
| 3 | g.38554319C>A | CA352143649 | SCN5A | c.4770G>T (p.Trp1590Cys) c.4773G>T (p.Trp1591Cys) c.4719G>T (p.Trp1573Cys) c.4611G>T (p.Trp1537Cys) c.4714+56G>T (n.4714+56G>T) n.231G>T c.4644G>T (p.Trp1548Cys) c.4716G>T (p.Trp1572Cys) | |
| 3 | g.38554319C= | CA1358563129 | SCN5A | c.4770G= (p.Trp1590=) c.4773G= (p.Trp1591=) c.4719G= (p.Trp1573=) c.4611G= (p.Trp1537=) c.4714+56G= (n.4714+56G=) n.231G= c.4644G= (p.Trp1548=) c.4716G= (p.Trp1572=) | |
| 3 | g.38554319C>G | CA352143650 | SCN5A | c.4770G>C (p.Trp1590Cys) c.4773G>C (p.Trp1591Cys) c.4719G>C (p.Trp1573Cys) c.4611G>C (p.Trp1537Cys) c.4714+56G>C (n.4714+56G>C) n.231G>C c.4644G>C (p.Trp1548Cys) c.4716G>C (p.Trp1572Cys) | |
| 3 | g.38554319C>T | CA72942418 | SCN5A | c.4770G>A (p.Trp1590Ter) c.4773G>A (p.Trp1591Ter) c.4719G>A (p.Trp1573Ter) c.4611G>A (p.Trp1537Ter) c.4714+56G>A (n.4714+56G>A) n.231G>A c.4644G>A (p.Trp1548Ter) c.4716G>A (p.Trp1572Ter) | ClinVar dbSNP |
| 3 | g.38554320C>A | CA352143651 | SCN5A | c.4769G>T (p.Trp1590Leu) c.4772G>T (p.Trp1591Leu) c.4718G>T (p.Trp1573Leu) c.4610G>T (p.Trp1537Leu) c.4714+55G>T (n.4714+55G>T) n.230G>T c.4643G>T (p.Trp1548Leu) c.4715G>T (p.Trp1572Leu) | |
| 3 | g.38554320C= | CA1358563137 | SCN5A | c.4769G= (p.Trp1590=) c.4772G= (p.Trp1591=) c.4718G= (p.Trp1573=) c.4610G= (p.Trp1537=) c.4714+55G= (n.4714+55G=) n.230G= c.4643G= (p.Trp1548=) c.4715G= (p.Trp1572=) | |
| 3 | g.38554320C>G | CA352143653 | SCN5A | c.4769G>C (p.Trp1590Ser) c.4772G>C (p.Trp1591Ser) c.4718G>C (p.Trp1573Ser) c.4610G>C (p.Trp1537Ser) c.4714+55G>C (n.4714+55G>C) n.230G>C c.4643G>C (p.Trp1548Ser) c.4715G>C (p.Trp1572Ser) | |
| 3 | g.38554320C>T | CA279603 | SCN5A | c.4769G>A (p.Trp1590Ter) c.4772G>A (p.Trp1591Ter) c.4718G>A (p.Trp1573Ter) c.4610G>A (p.Trp1537Ter) c.4714+55G>A (n.4714+55G>A) n.230G>A c.4643G>A (p.Trp1548Ter) c.4715G>A (p.Trp1572Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38554321A>C | CA352143655 | SCN5A | c.4768T>G (p.Trp1590Gly) c.4771T>G (p.Trp1591Gly) c.4717T>G (p.Trp1573Gly) c.4609T>G (p.Trp1537Gly) c.4714+54T>G (n.4714+54T>G) n.229T>G c.4642T>G (p.Trp1548Gly) c.4714T>G (p.Trp1572Gly) | |
| 3 | g.38554321A>G | CA352143656 | SCN5A | c.4768T>C (p.Trp1590Arg) c.4771T>C (p.Trp1591Arg) c.4717T>C (p.Trp1573Arg) c.4609T>C (p.Trp1537Arg) c.4714+54T>C (n.4714+54T>C) n.229T>C c.4642T>C (p.Trp1548Arg) c.4714T>C (p.Trp1572Arg) | |
| 3 | g.38554321A>T | CA352143657 | SCN5A | c.4768T>A (p.Trp1590Arg) c.4771T>A (p.Trp1591Arg) c.4717T>A (p.Trp1573Arg) c.4609T>A (p.Trp1537Arg) c.4714+54T>A (n.4714+54T>A) n.229T>A c.4642T>A (p.Trp1548Arg) c.4714T>A (p.Trp1572Arg) | |
| 3 | g.38554322G>A | CA433134520 | SCN5A | c.4767C>T (p.Ser1589=) c.4770C>T (p.Ser1590=) c.4716C>T (p.Ser1572=) c.4608C>T (p.Ser1536=) c.4714+53C>T (n.4714+53C>T) n.228C>T c.4641C>T (p.Ser1547=) c.4713C>T (p.Ser1571=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554322G>C | CA352143658 | SCN5A | c.4767C>G (p.Ser1589Arg) c.4770C>G (p.Ser1590Arg) c.4716C>G (p.Ser1572Arg) c.4608C>G (p.Ser1536Arg) c.4714+53C>G (n.4714+53C>G) n.228C>G c.4641C>G (p.Ser1547Arg) c.4713C>G (p.Ser1571Arg) | |
| 3 | g.38554322G= | CA1358563144 | SCN5A | c.4767C= (p.Ser1589=) c.4770C= (p.Ser1590=) c.4716C= (p.Ser1572=) c.4608C= (p.Ser1536=) c.4714+53C= (n.4714+53C=) n.228C= c.4641C= (p.Ser1547=) c.4713C= (p.Ser1571=) | |
| 3 | g.38554322G>T | CA352143659 | SCN5A | c.4767C>A (p.Ser1589Arg) c.4770C>A (p.Ser1590Arg) c.4716C>A (p.Ser1572Arg) c.4608C>A (p.Ser1536Arg) c.4714+53C>A (n.4714+53C>A) n.228C>A c.4641C>A (p.Ser1547Arg) c.4713C>A (p.Ser1571Arg) | |
| 3 | g.38554323C>A | CA352143661 | SCN5A | c.4766G>T (p.Ser1589Ile) c.4769G>T (p.Ser1590Ile) c.4715G>T (p.Ser1572Ile) c.4607G>T (p.Ser1536Ile) c.4714+52G>T (n.4714+52G>T) n.227G>T c.4640G>T (p.Ser1547Ile) c.4712G>T (p.Ser1571Ile) | |
| 3 | g.38554323C>G | CA352143662 | SCN5A | c.4766G>C (p.Ser1589Thr) c.4769G>C (p.Ser1590Thr) c.4715G>C (p.Ser1572Thr) c.4607G>C (p.Ser1536Thr) c.4714+52G>C (n.4714+52G>C) n.227G>C c.4640G>C (p.Ser1547Thr) c.4712G>C (p.Ser1571Thr) | |
| 3 | g.38554323C>T | CA352143660 | SCN5A | c.4766G>A (p.Ser1589Asn) c.4769G>A (p.Ser1590Asn) c.4715G>A (p.Ser1572Asn) c.4607G>A (p.Ser1536Asn) c.4714+52G>A (n.4714+52G>A) n.227G>A c.4640G>A (p.Ser1547Asn) c.4712G>A (p.Ser1571Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38554324T>A | CA352143663 | SCN5A | c.4765A>T (p.Ser1589Cys) c.4768A>T (p.Ser1590Cys) c.4714A>T (p.Ser1572Cys) c.4606A>T (p.Ser1536Cys) c.4714+51A>T (n.4714+51A>T) n.226A>T c.4639A>T (p.Ser1547Cys) c.4711A>T (p.Ser1571Cys) | |
| 3 | g.38554324T>C | CA352143665 | SCN5A | c.4765A>G (p.Ser1589Gly) c.4768A>G (p.Ser1590Gly) c.4714A>G (p.Ser1572Gly) c.4606A>G (p.Ser1536Gly) c.4714+51A>G (n.4714+51A>G) n.226A>G c.4639A>G (p.Ser1547Gly) c.4711A>G (p.Ser1571Gly) | |
| 3 | g.38554324T>G | CA352143664 | SCN5A | c.4765A>C (p.Ser1589Arg) c.4768A>C (p.Ser1590Arg) c.4714A>C (p.Ser1572Arg) c.4606A>C (p.Ser1536Arg) c.4714+51A>C (n.4714+51A>C) n.226A>C c.4639A>C (p.Ser1547Arg) c.4711A>C (p.Ser1571Arg) | |
| 3 | g.38554325G>A | CA433134521 | SCN5A | c.4764C>T (p.Asn1588=) c.4767C>T (p.Asn1589=) c.4713C>T (p.Asn1571=) c.4605C>T (p.Asn1535=) c.4714+50C>T (n.4714+50C>T) n.225C>T c.4638C>T (p.Asn1546=) c.4710C>T (p.Asn1570=) | ClinVar |
| 3 | g.38554325G>C | CA352143666 | SCN5A | c.4764C>G (p.Asn1588Lys) c.4767C>G (p.Asn1589Lys) c.4713C>G (p.Asn1571Lys) c.4605C>G (p.Asn1535Lys) c.4714+50C>G (n.4714+50C>G) n.225C>G c.4638C>G (p.Asn1546Lys) c.4710C>G (p.Asn1570Lys) | |
| 3 | g.38554325G>T | CA352143667 | SCN5A | c.4764C>A (p.Asn1588Lys) c.4767C>A (p.Asn1589Lys) c.4713C>A (p.Asn1571Lys) c.4605C>A (p.Asn1535Lys) c.4714+50C>A (n.4714+50C>A) n.225C>A c.4638C>A (p.Asn1546Lys) c.4710C>A (p.Asn1570Lys) | |
| 3 | g.38554326T>A | CA352143668 | SCN5A | c.4763A>T (p.Asn1588Ile) c.4766A>T (p.Asn1589Ile) c.4712A>T (p.Asn1571Ile) c.4604A>T (p.Asn1535Ile) c.4714+49A>T (n.4714+49A>T) n.224A>T c.4637A>T (p.Asn1546Ile) c.4709A>T (p.Asn1570Ile) | |
| 3 | g.38554326T>C | CA352143669 | SCN5A | c.4763A>G (p.Asn1588Ser) c.4766A>G (p.Asn1589Ser) c.4712A>G (p.Asn1571Ser) c.4604A>G (p.Asn1535Ser) c.4714+49A>G (n.4714+49A>G) n.224A>G c.4637A>G (p.Asn1546Ser) c.4709A>G (p.Asn1570Ser) | gnomAD v4 |
| 3 | g.38554326T>G | CA352143670 | SCN5A | c.4763A>C (p.Asn1588Thr) c.4766A>C (p.Asn1589Thr) c.4712A>C (p.Asn1571Thr) c.4604A>C (p.Asn1535Thr) c.4714+49A>C (n.4714+49A>C) n.224A>C c.4637A>C (p.Asn1546Thr) c.4709A>C (p.Asn1570Thr) | |
| 3 | g.38554327T>A | CA352143671 | SCN5A | c.4762A>T (p.Asn1588Tyr) c.4765A>T (p.Asn1589Tyr) c.4711A>T (p.Asn1571Tyr) c.4603A>T (p.Asn1535Tyr) c.4714+48A>T (n.4714+48A>T) n.223A>T c.4636A>T (p.Asn1546Tyr) c.4708A>T (p.Asn1570Tyr) | |
| 3 | g.38554327T>C | CA352143672 | SCN5A | c.4762A>G (p.Asn1588Asp) c.4765A>G (p.Asn1589Asp) c.4711A>G (p.Asn1571Asp) c.4603A>G (p.Asn1535Asp) c.4714+48A>G (n.4714+48A>G) n.223A>G c.4636A>G (p.Asn1546Asp) c.4708A>G (p.Asn1570Asp) | |
| 3 | g.38554327T>G | CA352143673 | SCN5A | c.4762A>C (p.Asn1588His) c.4765A>C (p.Asn1589His) c.4711A>C (p.Asn1571His) c.4603A>C (p.Asn1535His) c.4714+48A>C (n.4714+48A>C) n.223A>C c.4636A>C (p.Asn1546His) c.4708A>C (p.Asn1570His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554327T= | CA1358563147 | SCN5A | c.4762A= (p.Asn1588=) c.4765A= (p.Asn1589=) c.4711A= (p.Asn1571=) c.4603A= (p.Asn1535=) c.4714+48A= (n.4714+48A=) n.223A= c.4636A= (p.Asn1546=) c.4708A= (p.Asn1570=) | |
| 3 | g.38554328G>A | CA433134523 | SCN5A | c.4761C>T (p.Thr1587=) c.4764C>T (p.Thr1588=) c.4710C>T (p.Thr1570=) c.4602C>T (p.Thr1534=) c.4714+47C>T (n.4714+47C>T) n.222C>T c.4635C>T (p.Thr1545=) c.4707C>T (p.Thr1569=) | ClinVar |
| 3 | g.38554328G>C | CA433134524 | SCN5A | c.4761C>G (p.Thr1587=) c.4764C>G (p.Thr1588=) c.4710C>G (p.Thr1570=) c.4602C>G (p.Thr1534=) c.4714+47C>G (n.4714+47C>G) n.222C>G c.4635C>G (p.Thr1545=) c.4707C>G (p.Thr1569=) | |
| 3 | g.38554328G>T | CA433134525 | SCN5A | c.4761C>A (p.Thr1587=) c.4764C>A (p.Thr1588=) c.4710C>A (p.Thr1570=) c.4602C>A (p.Thr1534=) c.4714+47C>A (n.4714+47C>A) n.222C>A c.4635C>A (p.Thr1545=) c.4707C>A (p.Thr1569=) | |
| 3 | g.38554329G>A | CA352143674 | SCN5A | c.4760C>T (p.Thr1587Ile) c.4763C>T (p.Thr1588Ile) c.4709C>T (p.Thr1570Ile) c.4601C>T (p.Thr1534Ile) c.4714+46C>T (n.4714+46C>T) n.221C>T c.4634C>T (p.Thr1545Ile) c.4706C>T (p.Thr1569Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554329G>C | CA352143675 | SCN5A | c.4760C>G (p.Thr1587Ser) c.4763C>G (p.Thr1588Ser) c.4709C>G (p.Thr1570Ser) c.4601C>G (p.Thr1534Ser) c.4714+46C>G (n.4714+46C>G) n.221C>G c.4634C>G (p.Thr1545Ser) c.4706C>G (p.Thr1569Ser) | |
| 3 | g.38554329G= | CA1358563149 | SCN5A | c.4760C= (p.Thr1587=) c.4763C= (p.Thr1588=) c.4709C= (p.Thr1570=) c.4601C= (p.Thr1534=) c.4714+46C= (n.4714+46C=) n.221C= c.4634C= (p.Thr1545=) c.4706C= (p.Thr1569=) |