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.38551386C>A | CA433332178 | SCN5A | c.4983G>T (p.Leu1661=) c.4986G>T (p.Leu1662=) c.4932G>T (p.Leu1644=) c.4824G>T (p.Leu1608=) c.4887G>T (p.Leu1629=) c.4857G>T (p.Leu1619=) c.4929G>T (p.Leu1643=) | |
| 3 | g.38551386C>G | CA433332181 | SCN5A | c.4983G>C (p.Leu1661=) c.4986G>C (p.Leu1662=) c.4932G>C (p.Leu1644=) c.4824G>C (p.Leu1608=) c.4887G>C (p.Leu1629=) c.4857G>C (p.Leu1619=) c.4929G>C (p.Leu1643=) | |
| 3 | g.38551386C>T | CA433332179 | SCN5A | c.4983G>A (p.Leu1661=) c.4986G>A (p.Leu1662=) c.4932G>A (p.Leu1644=) c.4824G>A (p.Leu1608=) c.4887G>A (p.Leu1629=) c.4857G>A (p.Leu1619=) c.4929G>A (p.Leu1643=) | gnomAD v4 |
| 3 | g.38551387A>C | CA352142838 | SCN5A | c.4982T>G (p.Leu1661Arg) c.4985T>G (p.Leu1662Arg) c.4931T>G (p.Leu1644Arg) c.4823T>G (p.Leu1608Arg) c.4886T>G (p.Leu1629Arg) c.4856T>G (p.Leu1619Arg) c.4928T>G (p.Leu1643Arg) | |
| 3 | g.38551387A>G | CA352142839 | SCN5A | c.4982T>C (p.Leu1661Pro) c.4985T>C (p.Leu1662Pro) c.4931T>C (p.Leu1644Pro) c.4823T>C (p.Leu1608Pro) c.4886T>C (p.Leu1629Pro) c.4856T>C (p.Leu1619Pro) c.4928T>C (p.Leu1643Pro) | |
| 3 | g.38551387A>T | CA352142840 | SCN5A | c.4982T>A (p.Leu1661Gln) c.4985T>A (p.Leu1662Gln) c.4931T>A (p.Leu1644Gln) c.4823T>A (p.Leu1608Gln) c.4886T>A (p.Leu1629Gln) c.4856T>A (p.Leu1619Gln) c.4928T>A (p.Leu1643Gln) | |
| 3 | g.38551388G>A | CA433332187 | SCN5A | c.4981C>T (p.Leu1661=) c.4984C>T (p.Leu1662=) c.4930C>T (p.Leu1644=) c.4822C>T (p.Leu1608=) c.4885C>T (p.Leu1629=) c.4855C>T (p.Leu1619=) c.4927C>T (p.Leu1643=) | COSMIC COSMIC COSMIC |
| 3 | g.38551388G>C | CA352142841 | SCN5A | c.4981C>G (p.Leu1661Val) c.4984C>G (p.Leu1662Val) c.4930C>G (p.Leu1644Val) c.4822C>G (p.Leu1608Val) c.4885C>G (p.Leu1629Val) c.4855C>G (p.Leu1619Val) c.4927C>G (p.Leu1643Val) | |
| 3 | g.38551388G>T | CA352142842 | SCN5A | c.4981C>A (p.Leu1661Met) c.4984C>A (p.Leu1662Met) c.4930C>A (p.Leu1644Met) c.4822C>A (p.Leu1608Met) c.4885C>A (p.Leu1629Met) c.4855C>A (p.Leu1619Met) c.4927C>A (p.Leu1643Met) | |
| 3 | g.38551389C>A | CA433332190 | SCN5A | c.4980G>T (p.Gly1660=) c.4983G>T (p.Gly1661=) c.4929G>T (p.Gly1643=) c.4821G>T (p.Gly1607=) c.4884G>T (p.Gly1628=) c.4854G>T (p.Gly1618=) c.4926G>T (p.Gly1642=) | |
| 3 | g.38551389C>G | CA433332191 | SCN5A | c.4980G>C (p.Gly1660=) c.4983G>C (p.Gly1661=) c.4929G>C (p.Gly1643=) c.4821G>C (p.Gly1607=) c.4884G>C (p.Gly1628=) c.4854G>C (p.Gly1618=) c.4926G>C (p.Gly1642=) | |
| 3 | g.38551389C>T | CA433332195 | SCN5A | c.4980G>A (p.Gly1660=) c.4983G>A (p.Gly1661=) c.4929G>A (p.Gly1643=) c.4821G>A (p.Gly1607=) c.4884G>A (p.Gly1628=) c.4854G>A (p.Gly1618=) c.4926G>A (p.Gly1642=) | |
| 3 | g.38551390C>A | CA352142844 | SCN5A | c.4979G>T (p.Gly1660Val) c.4982G>T (p.Gly1661Val) c.4928G>T (p.Gly1643Val) c.4820G>T (p.Gly1607Val) c.4883G>T (p.Gly1628Val) c.4853G>T (p.Gly1618Val) c.4925G>T (p.Gly1642Val) | |
| 3 | g.38551390C= | CA1358557951 | SCN5A | c.4979G= (p.Gly1660=) c.4982G= (p.Gly1661=) c.4928G= (p.Gly1643=) c.4820G= (p.Gly1607=) c.4883G= (p.Gly1628=) c.4853G= (p.Gly1618=) c.4925G= (p.Gly1642=) | |
| 3 | g.38551390C>G | CA352142845 | SCN5A | c.4979G>C (p.Gly1660Ala) c.4982G>C (p.Gly1661Ala) c.4928G>C (p.Gly1643Ala) c.4820G>C (p.Gly1607Ala) c.4883G>C (p.Gly1628Ala) c.4853G>C (p.Gly1618Ala) c.4925G>C (p.Gly1642Ala) | dbSNP |
| 3 | g.38551390C>T | CA352142843 | SCN5A | c.4979G>A (p.Gly1660Glu) c.4982G>A (p.Gly1661Glu) c.4928G>A (p.Gly1643Glu) c.4820G>A (p.Gly1607Glu) c.4883G>A (p.Gly1628Glu) c.4853G>A (p.Gly1618Glu) c.4925G>A (p.Gly1642Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551391C>A | CA352142846 | SCN5A | c.4978G>T (p.Gly1660Trp) c.4981G>T (p.Gly1661Trp) c.4927G>T (p.Gly1643Trp) c.4819G>T (p.Gly1607Trp) c.4882G>T (p.Gly1628Trp) c.4852G>T (p.Gly1618Trp) c.4924G>T (p.Gly1642Trp) | |
| 3 | g.38551391C= | CA1358557956 | SCN5A | c.4978G= (p.Gly1660=) c.4981G= (p.Gly1661=) c.4927G= (p.Gly1643=) c.4819G= (p.Gly1607=) c.4882G= (p.Gly1628=) c.4852G= (p.Gly1618=) c.4924G= (p.Gly1642=) | |
| 3 | g.38551391C>G | CA018819 | SCN5A | c.4978G>C (p.Gly1660Arg) c.4981G>C (p.Gly1661Arg) c.4927G>C (p.Gly1643Arg) c.4819G>C (p.Gly1607Arg) c.4882G>C (p.Gly1628Arg) c.4852G>C (p.Gly1618Arg) c.4924G>C (p.Gly1642Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551391C>T | CA018812 | SCN5A | c.4978G>A (p.Gly1660Arg) c.4981G>A (p.Gly1661Arg) c.4927G>A (p.Gly1643Arg) c.4819G>A (p.Gly1607Arg) c.4882G>A (p.Gly1628Arg) c.4852G>A (p.Gly1618Arg) c.4924G>A (p.Gly1642Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551392G>A | CA064043 | SCN5A | c.4977C>T (p.Ile1659=) c.4980C>T (p.Ile1660=) c.4926C>T (p.Ile1642=) c.4818C>T (p.Ile1606=) c.4881C>T (p.Ile1627=) c.4851C>T (p.Ile1617=) c.4923C>T (p.Ile1641=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551392G>C | CA352142847 | SCN5A | c.4977C>G (p.Ile1659Met) c.4980C>G (p.Ile1660Met) c.4926C>G (p.Ile1642Met) c.4818C>G (p.Ile1606Met) c.4881C>G (p.Ile1627Met) c.4851C>G (p.Ile1617Met) c.4923C>G (p.Ile1641Met) | gnomAD v4 |
| 3 | g.38551392G= | CA1358557962 | SCN5A | c.4977C= (p.Ile1659=) c.4980C= (p.Ile1660=) c.4926C= (p.Ile1642=) c.4818C= (p.Ile1606=) c.4881C= (p.Ile1627=) c.4851C= (p.Ile1617=) c.4923C= (p.Ile1641=) | |
| 3 | g.38551392G>T | CA433332201 | SCN5A | c.4977C>A (p.Ile1659=) c.4980C>A (p.Ile1660=) c.4926C>A (p.Ile1642=) c.4818C>A (p.Ile1606=) c.4881C>A (p.Ile1627=) c.4851C>A (p.Ile1617=) c.4923C>A (p.Ile1641=) | |
| 3 | g.38551393A>C | CA352142848 | SCN5A | c.4976T>G (p.Ile1659Ser) c.4979T>G (p.Ile1660Ser) c.4925T>G (p.Ile1642Ser) c.4817T>G (p.Ile1606Ser) c.4880T>G (p.Ile1627Ser) c.4850T>G (p.Ile1617Ser) c.4922T>G (p.Ile1641Ser) | |
| 3 | g.38551393A>G | CA352142849 | SCN5A | c.4976T>C (p.Ile1659Thr) c.4979T>C (p.Ile1660Thr) c.4925T>C (p.Ile1642Thr) c.4817T>C (p.Ile1606Thr) c.4880T>C (p.Ile1627Thr) c.4850T>C (p.Ile1617Thr) c.4922T>C (p.Ile1641Thr) | ClinVar |
| 3 | g.38551393A>T | CA352142850 | SCN5A | c.4976T>A (p.Ile1659Asn) c.4979T>A (p.Ile1660Asn) c.4925T>A (p.Ile1642Asn) c.4817T>A (p.Ile1606Asn) c.4880T>A (p.Ile1627Asn) c.4850T>A (p.Ile1617Asn) c.4922T>A (p.Ile1641Asn) | |
| 3 | g.38551394T>A | CA352142851 | SCN5A | c.4975A>T (p.Ile1659Phe) c.4978A>T (p.Ile1660Phe) c.4924A>T (p.Ile1642Phe) c.4816A>T (p.Ile1606Phe) c.4879A>T (p.Ile1627Phe) c.4849A>T (p.Ile1617Phe) c.4921A>T (p.Ile1641Phe) | |
| 3 | g.38551394T>C | CA018806 | SCN5A | c.4975A>G (p.Ile1659Val) c.4978A>G (p.Ile1660Val) c.4924A>G (p.Ile1642Val) c.4816A>G (p.Ile1606Val) c.4879A>G (p.Ile1627Val) c.4849A>G (p.Ile1617Val) c.4921A>G (p.Ile1641Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551394T>G | CA352142852 | SCN5A | c.4975A>C (p.Ile1659Leu) c.4978A>C (p.Ile1660Leu) c.4924A>C (p.Ile1642Leu) c.4816A>C (p.Ile1606Leu) c.4879A>C (p.Ile1627Leu) c.4849A>C (p.Ile1617Leu) c.4921A>C (p.Ile1641Leu) | |
| 3 | g.38551394T= | CA1358557973 | SCN5A | c.4975A= (p.Ile1659=) c.4978A= (p.Ile1660=) c.4924A= (p.Ile1642=) c.4816A= (p.Ile1606=) c.4879A= (p.Ile1627=) c.4849A= (p.Ile1617=) c.4921A= (p.Ile1641=) | |
| 3 | g.38551395G>A | CA433332205 | SCN5A | c.4974C>T (p.Asn1658=) c.4977C>T (p.Asn1659=) c.4923C>T (p.Asn1641=) c.4815C>T (p.Asn1605=) c.4878C>T (p.Asn1626=) c.4848C>T (p.Asn1616=) c.4920C>T (p.Asn1640=) | |
| 3 | g.38551395G>C | CA352142853 | SCN5A | c.4974C>G (p.Asn1658Lys) c.4977C>G (p.Asn1659Lys) c.4923C>G (p.Asn1641Lys) c.4815C>G (p.Asn1605Lys) c.4878C>G (p.Asn1626Lys) c.4848C>G (p.Asn1616Lys) c.4920C>G (p.Asn1640Lys) | |
| 3 | g.38551395G>T | CA352142854 | SCN5A | c.4974C>A (p.Asn1658Lys) c.4977C>A (p.Asn1659Lys) c.4923C>A (p.Asn1641Lys) c.4815C>A (p.Asn1605Lys) c.4878C>A (p.Asn1626Lys) c.4848C>A (p.Asn1616Lys) c.4920C>A (p.Asn1640Lys) | |
| 3 | g.38551396T>A | CA352142855 | SCN5A | c.4973A>T (p.Asn1658Ile) c.4976A>T (p.Asn1659Ile) c.4922A>T (p.Asn1641Ile) c.4814A>T (p.Asn1605Ile) c.4877A>T (p.Asn1626Ile) c.4847A>T (p.Asn1616Ile) c.4919A>T (p.Asn1640Ile) | |
| 3 | g.38551396T>C | CA352142857 | SCN5A | c.4973A>G (p.Asn1658Ser) c.4976A>G (p.Asn1659Ser) c.4922A>G (p.Asn1641Ser) c.4814A>G (p.Asn1605Ser) c.4877A>G (p.Asn1626Ser) c.4847A>G (p.Asn1616Ser) c.4919A>G (p.Asn1640Ser) | ClinVar dbSNP |
| 3 | g.38551396T>G | CA352142856 | SCN5A | c.4973A>C (p.Asn1658Thr) c.4976A>C (p.Asn1659Thr) c.4922A>C (p.Asn1641Thr) c.4814A>C (p.Asn1605Thr) c.4877A>C (p.Asn1626Thr) c.4847A>C (p.Asn1616Thr) c.4919A>C (p.Asn1640Thr) | |
| 3 | g.38551396T= | CA1358557979 | SCN5A | c.4973A= (p.Asn1658=) c.4976A= (p.Asn1659=) c.4922A= (p.Asn1641=) c.4814A= (p.Asn1605=) c.4877A= (p.Asn1626=) c.4847A= (p.Asn1616=) c.4919A= (p.Asn1640=) | |
| 3 | g.38551397T>A | CA352142858 | SCN5A | c.4972A>T (p.Asn1658Tyr) c.4975A>T (p.Asn1659Tyr) c.4921A>T (p.Asn1641Tyr) c.4813A>T (p.Asn1605Tyr) c.4876A>T (p.Asn1626Tyr) c.4846A>T (p.Asn1616Tyr) c.4918A>T (p.Asn1640Tyr) | |
| 3 | g.38551397T>C | CA72938241 | SCN5A | c.4972A>G (p.Asn1658Asp) c.4975A>G (p.Asn1659Asp) c.4921A>G (p.Asn1641Asp) c.4813A>G (p.Asn1605Asp) c.4876A>G (p.Asn1626Asp) c.4846A>G (p.Asn1616Asp) c.4918A>G (p.Asn1640Asp) | dbSNP |
| 3 | g.38551397T>G | CA352142859 | SCN5A | c.4972A>C (p.Asn1658His) c.4975A>C (p.Asn1659His) c.4921A>C (p.Asn1641His) c.4813A>C (p.Asn1605His) c.4876A>C (p.Asn1626His) c.4846A>C (p.Asn1616His) c.4918A>C (p.Asn1640His) | |
| 3 | g.38551397T= | CA1358557982 | SCN5A | c.4972A= (p.Asn1658=) c.4975A= (p.Asn1659=) c.4921A= (p.Asn1641=) c.4813A= (p.Asn1605=) c.4876A= (p.Asn1626=) c.4846A= (p.Asn1616=) c.4918A= (p.Asn1640=) | |
| 3 | g.38551398G>A | CA433332211 | SCN5A | c.4971C>T (p.Phe1657=) c.4974C>T (p.Phe1658=) c.4920C>T (p.Phe1640=) c.4812C>T (p.Phe1604=) c.4875C>T (p.Phe1625=) c.4845C>T (p.Phe1615=) c.4917C>T (p.Phe1639=) | ClinVar dbSNP |
| 3 | g.38551398G>C | CA352142860 | SCN5A | c.4971C>G (p.Phe1657Leu) c.4974C>G (p.Phe1658Leu) c.4920C>G (p.Phe1640Leu) c.4812C>G (p.Phe1604Leu) c.4875C>G (p.Phe1625Leu) c.4845C>G (p.Phe1615Leu) c.4917C>G (p.Phe1639Leu) | ClinVar |
| 3 | g.38551398G= | CA1358557984 | SCN5A | c.4971C= (p.Phe1657=) c.4974C= (p.Phe1658=) c.4920C= (p.Phe1640=) c.4812C= (p.Phe1604=) c.4875C= (p.Phe1625=) c.4845C= (p.Phe1615=) c.4917C= (p.Phe1639=) | |
| 3 | g.38551398G>T | CA352142861 | SCN5A | c.4971C>A (p.Phe1657Leu) c.4974C>A (p.Phe1658Leu) c.4920C>A (p.Phe1640Leu) c.4812C>A (p.Phe1604Leu) c.4875C>A (p.Phe1625Leu) c.4845C>A (p.Phe1615Leu) c.4917C>A (p.Phe1639Leu) | |
| 3 | g.38551399A>C | CA352142862 | SCN5A | c.4970T>G (p.Phe1657Cys) c.4973T>G (p.Phe1658Cys) c.4919T>G (p.Phe1640Cys) c.4811T>G (p.Phe1604Cys) c.4874T>G (p.Phe1625Cys) c.4844T>G (p.Phe1615Cys) c.4916T>G (p.Phe1639Cys) | |
| 3 | g.38551399A>G | CA352142863 | SCN5A | c.4970T>C (p.Phe1657Ser) c.4973T>C (p.Phe1658Ser) c.4919T>C (p.Phe1640Ser) c.4811T>C (p.Phe1604Ser) c.4874T>C (p.Phe1625Ser) c.4844T>C (p.Phe1615Ser) c.4916T>C (p.Phe1639Ser) | |
| 3 | g.38551399A>T | CA352142864 | SCN5A | c.4970T>A (p.Phe1657Tyr) c.4973T>A (p.Phe1658Tyr) c.4919T>A (p.Phe1640Tyr) c.4811T>A (p.Phe1604Tyr) c.4874T>A (p.Phe1625Tyr) c.4844T>A (p.Phe1615Tyr) c.4916T>A (p.Phe1639Tyr) | COSMIC |
| 3 | g.38551400A>C | CA352142865 | SCN5A | c.4969T>G (p.Phe1657Val) c.4972T>G (p.Phe1658Val) c.4918T>G (p.Phe1640Val) c.4810T>G (p.Phe1604Val) c.4873T>G (p.Phe1625Val) c.4843T>G (p.Phe1615Val) c.4915T>G (p.Phe1639Val) |