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.38557235dup | CA915942427 | SCN5A | c.4296+1dup c.4299+1dup c.4246-652dup (n.4246-652dup) c.4137+1dup c.4170+1dup c.4243-652dup (n.4243-652dup) | ClinVar dbSNP |
| 3 | g.38557235del | CA542270126 | SCN5A | c.4296+1del c.4299+1del c.4246-652del (n.4246-652del) c.4137+1del c.4170+1del c.4243-652del (n.4243-652del) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38557232C>A | CA018099 | SCN5A | c.4295G>T (p.Gly1432Val) c.4298G>T (p.Gly1433Val) c.4246-654G>T (n.4246-654G>T) c.4136G>T (p.Gly1379Val) c.4169G>T (p.Gly1390Val) c.4243-654G>T (n.4243-654G>T) | ClinVar dbSNP |
| 3 | g.38557232C= | CA1358564124 | SCN5A | c.4295G= (p.Gly1432=) c.4298G= (p.Gly1433=) c.4246-654G= (n.4246-654G=) c.4136G= (p.Gly1379=) c.4169G= (p.Gly1390=) c.4243-654G= (n.4243-654G=) | |
| 3 | g.38557232C>G | CA352145546 | SCN5A | c.4295G>C (p.Gly1432Ala) c.4298G>C (p.Gly1433Ala) c.4246-654G>C (n.4246-654G>C) c.4136G>C (p.Gly1379Ala) c.4169G>C (p.Gly1390Ala) c.4243-654G>C (n.4243-654G>C) | gnomAD v4 |
| 3 | g.38557232C>T | CA72943604 | SCN5A | c.4295G>A (p.Gly1432Glu) c.4298G>A (p.Gly1433Glu) c.4246-654G>A (n.4246-654G>A) c.4136G>A (p.Gly1379Glu) c.4169G>A (p.Gly1390Glu) c.4243-654G>A (n.4243-654G>A) | dbSNP |
| 3 | g.38557232_38557262delinsCCCCTGGAGTCCACAGCTGCATACATAATGT | CA1358564125 | SCN5A | c.4265_4295delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1422=) c.4268_4298delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1423=) c.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4106_4136delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1369=) c.4139_4169delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1380=) c.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG) | |
| 3 | g.38557233C>A | CA352145547 | SCN5A | c.4294G>T (p.Gly1432Trp) c.4297G>T (p.Gly1433Trp) c.4246-655G>T (n.4246-655G>T) c.4135G>T (p.Gly1379Trp) c.4168G>T (p.Gly1390Trp) c.4243-655G>T (n.4243-655G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557233C= | CA1358564137 | SCN5A | c.4294G= (p.Gly1432=) c.4297G= (p.Gly1433=) c.4246-655G= (n.4246-655G=) c.4135G= (p.Gly1379=) c.4168G= (p.Gly1390=) c.4243-655G= (n.4243-655G=) | |
| 3 | g.38557233C>G | CA352145548 | SCN5A | c.4294G>C (p.Gly1432Arg) c.4297G>C (p.Gly1433Arg) c.4246-655G>C (n.4246-655G>C) c.4135G>C (p.Gly1379Arg) c.4168G>C (p.Gly1390Arg) c.4243-655G>C (n.4243-655G>C) | gnomAD v4 |
| 3 | g.38557233C>T | CA72943607 | SCN5A | c.4294G>A (p.Gly1432Arg) c.4297G>A (p.Gly1433Arg) c.4246-655G>A (n.4246-655G>A) c.4135G>A (p.Gly1379Arg) c.4168G>A (p.Gly1390Arg) c.4243-655G>A (n.4243-655G>A) | ClinVar dbSNP |
| 3 | g.38557235_38557264del | CA1358564135 | SCN5A | c.4265_4294del (p.Asp1422_Arg1431del) c.4268_4297del (p.Asp1423_Arg1432del) c.4246-684_4246-655del (n.4246-684_4246-655del) c.4106_4135del (p.Asp1369_Arg1378del) c.4139_4168del (p.Asp1380_Arg1389del) c.4243-684_4243-655del (n.4243-684_4243-655del) | ClinVar dbSNP |
| 3 | g.38557234C>A | CA352145549 | SCN5A | c.4293G>T (p.Arg1431Ser) c.4296G>T (p.Arg1432Ser) c.4246-656G>T (n.4246-656G>T) c.4134G>T (p.Arg1378Ser) c.4167G>T (p.Arg1389Ser) c.4243-656G>T (n.4243-656G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557234C= | CA1358564142 | SCN5A | c.4293G= (p.Arg1431=) c.4296G= (p.Arg1432=) c.4246-656G= (n.4246-656G=) c.4134G= (p.Arg1378=) c.4167G= (p.Arg1389=) c.4243-656G= (n.4243-656G=) | |
| 3 | g.38557234C>G | CA018093 | SCN5A | c.4293G>C (p.Arg1431Ser) c.4296G>C (p.Arg1432Ser) c.4246-656G>C (n.4246-656G>C) c.4134G>C (p.Arg1378Ser) c.4167G>C (p.Arg1389Ser) c.4243-656G>C (n.4243-656G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557234C>T | CA063026 | SCN5A | c.4293G>A (p.Arg1431=) c.4296G>A (p.Arg1432=) c.4246-656G>A (n.4246-656G>A) c.4134G>A (p.Arg1378=) c.4167G>A (p.Arg1389=) c.4243-656G>A (n.4243-656G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557235C>A | CA352145550 | SCN5A | c.4292G>T (p.Arg1431Met) c.4295G>T (p.Arg1432Met) c.4246-657G>T (n.4246-657G>T) c.4133G>T (p.Arg1378Met) c.4166G>T (p.Arg1389Met) c.4243-657G>T (n.4243-657G>T) | |
| 3 | g.38557235C>G | CA352145551 | SCN5A | c.4292G>C (p.Arg1431Thr) c.4295G>C (p.Arg1432Thr) c.4246-657G>C (n.4246-657G>C) c.4133G>C (p.Arg1378Thr) c.4166G>C (p.Arg1389Thr) c.4243-657G>C (n.4243-657G>C) | gnomAD v4 |
| 3 | g.38557235C>T | CA352145552 | SCN5A | c.4292G>A (p.Arg1431Lys) c.4295G>A (p.Arg1432Lys) c.4246-657G>A (n.4246-657G>A) c.4133G>A (p.Arg1378Lys) c.4166G>A (p.Arg1389Lys) c.4243-657G>A (n.4243-657G>A) | |
| 3 | g.38557236del | CA2586965750 | SCN5A | c.4291del (p.Arg1431GlyfsTer?) c.4294del (p.Arg1432GlyfsTer?) c.4246-658del (n.4246-658del) c.4132del (p.Arg1378GlyfsTer?) c.4165del (p.Arg1389GlyfsTer?) c.4243-658del (n.4243-658del) | |
| 3 | g.38557236T>A | CA352145553 | SCN5A | c.4291A>T (p.Arg1431Trp) c.4294A>T (p.Arg1432Trp) c.4246-658A>T (n.4246-658A>T) c.4132A>T (p.Arg1378Trp) c.4165A>T (p.Arg1389Trp) c.4243-658A>T (n.4243-658A>T) | |
| 3 | g.38557236T>C | CA018087 | SCN5A | c.4291A>G (p.Arg1431Gly) c.4294A>G (p.Arg1432Gly) c.4246-658A>G (n.4246-658A>G) c.4132A>G (p.Arg1378Gly) c.4165A>G (p.Arg1389Gly) c.4243-658A>G (n.4243-658A>G) | ClinVar dbSNP |
| 3 | g.38557236T>G | CA433136199 | SCN5A | c.4291A>C (p.Arg1431=) c.4294A>C (p.Arg1432=) c.4246-658A>C (n.4246-658A>C) c.4132A>C (p.Arg1378=) c.4165A>C (p.Arg1389=) c.4243-658A>C (n.4243-658A>C) | ClinVar gnomAD v4 |
| 3 | g.38557236T= | CA1358564149 | SCN5A | c.4291A= (p.Arg1431=) c.4294A= (p.Arg1432=) c.4246-658A= (n.4246-658A=) c.4132A= (p.Arg1378=) c.4165A= (p.Arg1389=) c.4243-658A= (n.4243-658A=) | |
| 3 | g.38557237G>A | CA433136200 | SCN5A | c.4290C>T (p.Ser1430=) c.4293C>T (p.Ser1431=) c.4246-659C>T (n.4246-659C>T) c.4131C>T (p.Ser1377=) c.4164C>T (p.Ser1388=) c.4243-659C>T (n.4243-659C>T) | |
| 3 | g.38557237G>C | CA433136201 | SCN5A | c.4290C>G (p.Ser1430=) c.4293C>G (p.Ser1431=) c.4246-659C>G (n.4246-659C>G) c.4131C>G (p.Ser1377=) c.4164C>G (p.Ser1388=) c.4243-659C>G (n.4243-659C>G) | |
| 3 | g.38557237G>T | CA433136202 | SCN5A | c.4290C>A (p.Ser1430=) c.4293C>A (p.Ser1431=) c.4246-659C>A (n.4246-659C>A) c.4131C>A (p.Ser1377=) c.4164C>A (p.Ser1388=) c.4243-659C>A (n.4243-659C>A) | ClinVar |
| 3 | g.38557238G>A | CA352145554 | SCN5A | c.4289C>T (p.Ser1430Phe) c.4292C>T (p.Ser1431Phe) c.4246-660C>T (n.4246-660C>T) c.4130C>T (p.Ser1377Phe) c.4163C>T (p.Ser1388Phe) c.4243-660C>T (n.4243-660C>T) | COSMIC COSMIC COSMIC |
| 3 | g.38557238G>C | CA352145555 | SCN5A | c.4289C>G (p.Ser1430Cys) c.4292C>G (p.Ser1431Cys) c.4246-660C>G (n.4246-660C>G) c.4130C>G (p.Ser1377Cys) c.4163C>G (p.Ser1388Cys) c.4243-660C>G (n.4243-660C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557238G= | CA1358564155 | SCN5A | c.4289C= (p.Ser1430=) c.4292C= (p.Ser1431=) c.4246-660C= (n.4246-660C=) c.4130C= (p.Ser1377=) c.4163C= (p.Ser1388=) c.4243-660C= (n.4243-660C=) | |
| 3 | g.38557238G>T | CA352145556 | SCN5A | c.4289C>A (p.Ser1430Tyr) c.4292C>A (p.Ser1431Tyr) c.4246-660C>A (n.4246-660C>A) c.4130C>A (p.Ser1377Tyr) c.4163C>A (p.Ser1388Tyr) c.4243-660C>A (n.4243-660C>A) | |
| 3 | g.38557239A>C | CA352145557 | SCN5A | c.4288T>G (p.Ser1430Ala) c.4291T>G (p.Ser1431Ala) c.4246-661T>G (n.4246-661T>G) c.4129T>G (p.Ser1377Ala) c.4162T>G (p.Ser1388Ala) c.4243-661T>G (n.4243-661T>G) | |
| 3 | g.38557239A>G | CA352145558 | SCN5A | c.4288T>C (p.Ser1430Pro) c.4291T>C (p.Ser1431Pro) c.4246-661T>C (n.4246-661T>C) c.4129T>C (p.Ser1377Pro) c.4162T>C (p.Ser1388Pro) c.4243-661T>C (n.4243-661T>C) | |
| 3 | g.38557239A>T | CA352145559 | SCN5A | c.4288T>A (p.Ser1430Thr) c.4291T>A (p.Ser1431Thr) c.4246-661T>A (n.4246-661T>A) c.4129T>A (p.Ser1377Thr) c.4162T>A (p.Ser1388Thr) c.4243-661T>A (n.4243-661T>A) | |
| 3 | g.38557240G>A | CA433136203 | SCN5A | c.4287C>T (p.Asp1429=) c.4290C>T (p.Asp1430=) c.4246-662C>T (n.4246-662C>T) c.4128C>T (p.Asp1376=) c.4161C>T (p.Asp1387=) c.4243-662C>T (n.4243-662C>T) | |
| 3 | g.38557240G>C | CA352145560 | SCN5A | c.4287C>G (p.Asp1429Glu) c.4290C>G (p.Asp1430Glu) c.4246-662C>G (n.4246-662C>G) c.4128C>G (p.Asp1376Glu) c.4161C>G (p.Asp1387Glu) c.4243-662C>G (n.4243-662C>G) | |
| 3 | g.38557240G>T | CA352145561 | SCN5A | c.4287C>A (p.Asp1429Glu) c.4290C>A (p.Asp1430Glu) c.4246-662C>A (n.4246-662C>A) c.4128C>A (p.Asp1376Glu) c.4161C>A (p.Asp1387Glu) c.4243-662C>A (n.4243-662C>A) | COSMIC COSMIC COSMIC |
| 3 | g.38557241T>A | CA352145562 | SCN5A | c.4286A>T (p.Asp1429Val) c.4289A>T (p.Asp1430Val) c.4246-663A>T (n.4246-663A>T) c.4127A>T (p.Asp1376Val) c.4160A>T (p.Asp1387Val) c.4243-663A>T (n.4243-663A>T) | |
| 3 | g.38557241T>C | CA352145563 | SCN5A | c.4286A>G (p.Asp1429Gly) c.4289A>G (p.Asp1430Gly) c.4246-663A>G (n.4246-663A>G) c.4127A>G (p.Asp1376Gly) c.4160A>G (p.Asp1387Gly) c.4243-663A>G (n.4243-663A>G) | |
| 3 | g.38557241T>G | CA352145564 | SCN5A | c.4286A>C (p.Asp1429Ala) c.4289A>C (p.Asp1430Ala) c.4246-663A>C (n.4246-663A>C) c.4127A>C (p.Asp1376Ala) c.4160A>C (p.Asp1387Ala) c.4243-663A>C (n.4243-663A>C) | |
| 3 | g.38557242C>A | CA352145565 | SCN5A | c.4285G>T (p.Asp1429Tyr) c.4288G>T (p.Asp1430Tyr) c.4246-664G>T (n.4246-664G>T) c.4126G>T (p.Asp1376Tyr) c.4159G>T (p.Asp1387Tyr) c.4243-664G>T (n.4243-664G>T) | |
| 3 | g.38557242C>G | CA352145566 | SCN5A | c.4285G>C (p.Asp1429His) c.4288G>C (p.Asp1430His) c.4246-664G>C (n.4246-664G>C) c.4126G>C (p.Asp1376His) c.4159G>C (p.Asp1387His) c.4243-664G>C (n.4243-664G>C) | |
| 3 | g.38557242C>T | CA352145567 | SCN5A | c.4285G>A (p.Asp1429Asn) c.4288G>A (p.Asp1430Asn) c.4246-664G>A (n.4246-664G>A) c.4126G>A (p.Asp1376Asn) c.4159G>A (p.Asp1387Asn) c.4243-664G>A (n.4243-664G>A) | |
| 3 | g.38557243C>A | CA433136204 | SCN5A | c.4284G>T (p.Val1428=) c.4287G>T (p.Val1429=) c.4246-665G>T (n.4246-665G>T) c.4125G>T (p.Val1375=) c.4158G>T (p.Val1386=) c.4243-665G>T (n.4243-665G>T) | |
| 3 | g.38557243C>G | CA433136205 | SCN5A | c.4284G>C (p.Val1428=) c.4287G>C (p.Val1429=) c.4246-665G>C (n.4246-665G>C) c.4125G>C (p.Val1375=) c.4158G>C (p.Val1386=) c.4243-665G>C (n.4243-665G>C) | |
| 3 | g.38557243C>T | CA433136206 | SCN5A | c.4284G>A (p.Val1428=) c.4287G>A (p.Val1429=) c.4246-665G>A (n.4246-665G>A) c.4125G>A (p.Val1375=) c.4158G>A (p.Val1386=) c.4243-665G>A (n.4243-665G>A) | ClinVar |
| 3 | g.38557244A>C | CA352145568 | SCN5A | c.4283T>G (p.Val1428Gly) c.4286T>G (p.Val1429Gly) c.4246-666T>G (n.4246-666T>G) c.4124T>G (p.Val1375Gly) c.4157T>G (p.Val1386Gly) c.4243-666T>G (n.4243-666T>G) | |
| 3 | g.38557244A>G | CA352145569 | SCN5A | c.4283T>C (p.Val1428Ala) c.4286T>C (p.Val1429Ala) c.4246-666T>C (n.4246-666T>C) c.4124T>C (p.Val1375Ala) c.4157T>C (p.Val1386Ala) c.4243-666T>C (n.4243-666T>C) | |
| 3 | g.38557244A>T | CA352145570 | SCN5A | c.4283T>A (p.Val1428Glu) c.4286T>A (p.Val1429Glu) c.4246-666T>A (n.4246-666T>A) c.4124T>A (p.Val1375Glu) c.4157T>A (p.Val1386Glu) c.4243-666T>A (n.4243-666T>A) | |
| 3 | g.38557245C>A | CA352145571 | SCN5A | c.4282G>T (p.Val1428Leu) c.4285G>T (p.Val1429Leu) c.4246-667G>T (n.4246-667G>T) c.4123G>T (p.Val1375Leu) c.4156G>T (p.Val1386Leu) c.4243-667G>T (n.4243-667G>T) |