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.38556473_38556476del | CA2586965722 | SCN5A | c.4399_4402del (p.Val1467SerfsTer12) c.4402_4405del (p.Val1468SerfsTer12) c.4348_4351del (p.Val1450SerfsTer12) c.4240_4243del (p.Val1414SerfsTer12) c.4273_4276del (p.Val1425SerfsTer12) c.4345_4348del (p.Val1449SerfsTer12) | |
| 3 | g.38556476C>A | CA018214 | SCN5A | c.4399G>T (p.Val1467Phe) c.4402G>T (p.Val1468Phe) c.4348G>T (p.Val1450Phe) c.4240G>T (p.Val1414Phe) c.4273G>T (p.Val1425Phe) c.4345G>T (p.Val1449Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556476C= | CA1358563450 | SCN5A | c.4399G= (p.Val1467=) c.4402G= (p.Val1468=) c.4348G= (p.Val1450=) c.4240G= (p.Val1414=) c.4273G= (p.Val1425=) c.4345G= (p.Val1449=) | |
| 3 | g.38556476C>G | CA352145284 | SCN5A | c.4399G>C (p.Val1467Leu) c.4402G>C (p.Val1468Leu) c.4348G>C (p.Val1450Leu) c.4240G>C (p.Val1414Leu) c.4273G>C (p.Val1425Leu) c.4345G>C (p.Val1449Leu) | |
| 3 | g.38556476C>T | CA352145285 | SCN5A | c.4399G>A (p.Val1467Ile) c.4402G>A (p.Val1468Ile) c.4348G>A (p.Val1450Ile) c.4240G>A (p.Val1414Ile) c.4273G>A (p.Val1425Ile) c.4345G>A (p.Val1449Ile) | |
| 3 | g.38556477A>C | CA433136028 | SCN5A | c.4398T>G (p.Gly1466=) c.4401T>G (p.Gly1467=) c.4347T>G (p.Gly1449=) c.4239T>G (p.Gly1413=) c.4272T>G (p.Gly1424=) c.4344T>G (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>G | CA433136029 | SCN5A | c.4398T>C (p.Gly1466=) c.4401T>C (p.Gly1467=) c.4347T>C (p.Gly1449=) c.4239T>C (p.Gly1413=) c.4272T>C (p.Gly1424=) c.4344T>C (p.Gly1448=) | ClinVar |
| 3 | g.38556477A>T | CA433136030 | SCN5A | c.4398T>A (p.Gly1466=) c.4401T>A (p.Gly1467=) c.4347T>A (p.Gly1449=) c.4239T>A (p.Gly1413=) c.4272T>A (p.Gly1424=) c.4344T>A (p.Gly1448=) | |
| 3 | g.38556478C>A | CA352145286 | SCN5A | c.4397G>T (p.Gly1466Val) c.4400G>T (p.Gly1467Val) c.4346G>T (p.Gly1449Val) c.4238G>T (p.Gly1413Val) c.4271G>T (p.Gly1424Val) c.4343G>T (p.Gly1448Val) | |
| 3 | g.38556478C>G | CA352145287 | SCN5A | c.4397G>C (p.Gly1466Ala) c.4400G>C (p.Gly1467Ala) c.4346G>C (p.Gly1449Ala) c.4238G>C (p.Gly1413Ala) c.4271G>C (p.Gly1424Ala) c.4343G>C (p.Gly1448Ala) | |
| 3 | g.38556478C>T | CA352145288 | SCN5A | c.4397G>A (p.Gly1466Asp) c.4400G>A (p.Gly1467Asp) c.4346G>A (p.Gly1449Asp) c.4238G>A (p.Gly1413Asp) c.4271G>A (p.Gly1424Asp) c.4343G>A (p.Gly1448Asp) | |
| 3 | g.38556479C>A | CA352145291 | SCN5A | c.4396G>T (p.Gly1466Cys) c.4399G>T (p.Gly1467Cys) c.4345G>T (p.Gly1449Cys) c.4237G>T (p.Gly1413Cys) c.4270G>T (p.Gly1424Cys) c.4342G>T (p.Gly1448Cys) | |
| 3 | g.38556479C>G | CA352145290 | SCN5A | c.4396G>C (p.Gly1466Arg) c.4399G>C (p.Gly1467Arg) c.4345G>C (p.Gly1449Arg) c.4237G>C (p.Gly1413Arg) c.4270G>C (p.Gly1424Arg) c.4342G>C (p.Gly1448Arg) | |
| 3 | g.38556479C>T | CA352145289 | SCN5A | c.4396G>A (p.Gly1466Ser) c.4399G>A (p.Gly1467Ser) c.4345G>A (p.Gly1449Ser) c.4237G>A (p.Gly1413Ser) c.4270G>A (p.Gly1424Ser) c.4342G>A (p.Gly1448Ser) | gnomAD v4 |
| 3 | g.38556480A>C | CA352145292 | SCN5A | c.4395T>G (p.Ile1465Met) c.4398T>G (p.Ile1466Met) c.4344T>G (p.Ile1448Met) c.4236T>G (p.Ile1412Met) c.4269T>G (p.Ile1423Met) c.4341T>G (p.Ile1447Met) | |
| 3 | g.38556480A>G | CA433136034 | SCN5A | c.4395T>C (p.Ile1465=) c.4398T>C (p.Ile1466=) c.4344T>C (p.Ile1448=) c.4236T>C (p.Ile1412=) c.4269T>C (p.Ile1423=) c.4341T>C (p.Ile1447=) | |
| 3 | g.38556480A>T | CA433136035 | SCN5A | c.4395T>A (p.Ile1465=) c.4398T>A (p.Ile1466=) c.4344T>A (p.Ile1448=) c.4236T>A (p.Ile1412=) c.4269T>A (p.Ile1423=) c.4341T>A (p.Ile1447=) | |
| 3 | g.38556481A= | CA1358563452 | SCN5A | c.4394T= (p.Ile1465=) c.4397T= (p.Ile1466=) c.4343T= (p.Ile1448=) c.4235T= (p.Ile1412=) c.4268T= (p.Ile1423=) c.4340T= (p.Ile1447=) | |
| 3 | g.38556481A>C | CA352145293 | SCN5A | c.4394T>G (p.Ile1465Ser) c.4397T>G (p.Ile1466Ser) c.4343T>G (p.Ile1448Ser) c.4235T>G (p.Ile1412Ser) c.4268T>G (p.Ile1423Ser) c.4340T>G (p.Ile1447Ser) | |
| 3 | g.38556481A>G | CA018207 | SCN5A | c.4394T>C (p.Ile1465Thr) c.4397T>C (p.Ile1466Thr) c.4343T>C (p.Ile1448Thr) c.4235T>C (p.Ile1412Thr) c.4268T>C (p.Ile1423Thr) c.4340T>C (p.Ile1447Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556481A>T | CA352145294 | SCN5A | c.4394T>A (p.Ile1465Asn) c.4397T>A (p.Ile1466Asn) c.4343T>A (p.Ile1448Asn) c.4235T>A (p.Ile1412Asn) c.4268T>A (p.Ile1423Asn) c.4340T>A (p.Ile1447Asn) | |
| 3 | g.38556481_38556482delinsAT | CA1358563453 | SCN5A | c.4393_4394delinsAT (p.Ile1465=) c.4396_4397delinsAT (p.Ile1466=) c.4342_4343delinsAT (p.Ile1448=) c.4234_4235delinsAT (p.Ile1412=) c.4267_4268delinsAT (p.Ile1423=) c.4339_4340delinsAT (p.Ile1447=) | |
| 3 | g.38556482del | CA913188102 | SCN5A | c.4393del (p.Ile1465LeufsTer15) c.4396del (p.Ile1466LeufsTer15) c.4342del (p.Ile1448LeufsTer15) c.4234del (p.Ile1412LeufsTer15) c.4267del (p.Ile1423LeufsTer15) c.4339del (p.Ile1447LeufsTer15) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556482T>A | CA352145295 | SCN5A | c.4393A>T (p.Ile1465Phe) c.4396A>T (p.Ile1466Phe) c.4342A>T (p.Ile1448Phe) c.4234A>T (p.Ile1412Phe) c.4267A>T (p.Ile1423Phe) c.4339A>T (p.Ile1447Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38556482T>C | CA018201 | SCN5A | c.4393A>G (p.Ile1465Val) c.4396A>G (p.Ile1466Val) c.4342A>G (p.Ile1448Val) c.4234A>G (p.Ile1412Val) c.4267A>G (p.Ile1423Val) c.4339A>G (p.Ile1447Val) | ClinVar dbSNP |
| 3 | g.38556482T>G | CA352145296 | SCN5A | c.4393A>C (p.Ile1465Leu) c.4396A>C (p.Ile1466Leu) c.4342A>C (p.Ile1448Leu) c.4234A>C (p.Ile1412Leu) c.4267A>C (p.Ile1423Leu) c.4339A>C (p.Ile1447Leu) | |
| 3 | g.38556482T= | CA1358563455 | SCN5A | c.4393A= (p.Ile1465=) c.4396A= (p.Ile1466=) c.4342A= (p.Ile1448=) c.4234A= (p.Ile1412=) c.4267A= (p.Ile1423=) c.4339A= (p.Ile1447=) | |
| 3 | g.38556483_38556490del | CA2586965724 | SCN5A | c.4386_4393del (p.Leu1463TrpfsTer5) c.4389_4396del (p.Leu1464TrpfsTer5) c.4335_4342del (p.Leu1446TrpfsTer5) c.4227_4234del (p.Leu1410TrpfsTer5) c.4260_4267del (p.Leu1421TrpfsTer5) c.4332_4339del (p.Leu1445TrpfsTer5) | |
| 3 | g.38556483A>C | CA352145297 | SCN5A | c.4392T>G (p.Phe1464Leu) c.4395T>G (p.Phe1465Leu) c.4341T>G (p.Phe1447Leu) c.4233T>G (p.Phe1411Leu) c.4266T>G (p.Phe1422Leu) c.4338T>G (p.Phe1446Leu) | |
| 3 | g.38556483A>G | CA433136043 | SCN5A | c.4392T>C (p.Phe1464=) c.4395T>C (p.Phe1465=) c.4341T>C (p.Phe1447=) c.4233T>C (p.Phe1411=) c.4266T>C (p.Phe1422=) c.4338T>C (p.Phe1446=) | |
| 3 | g.38556483A>T | CA352145298 | SCN5A | c.4392T>A (p.Phe1464Leu) c.4395T>A (p.Phe1465Leu) c.4341T>A (p.Phe1447Leu) c.4233T>A (p.Phe1411Leu) c.4266T>A (p.Phe1422Leu) c.4338T>A (p.Phe1446Leu) | |
| 3 | g.38556484A>C | CA352145299 | SCN5A | c.4391T>G (p.Phe1464Cys) c.4394T>G (p.Phe1465Cys) c.4340T>G (p.Phe1447Cys) c.4232T>G (p.Phe1411Cys) c.4265T>G (p.Phe1422Cys) c.4337T>G (p.Phe1446Cys) | |
| 3 | g.38556484A>G | CA352145300 | SCN5A | c.4391T>C (p.Phe1464Ser) c.4394T>C (p.Phe1465Ser) c.4340T>C (p.Phe1447Ser) c.4232T>C (p.Phe1411Ser) c.4265T>C (p.Phe1422Ser) c.4337T>C (p.Phe1446Ser) | |
| 3 | g.38556484A>T | CA352145301 | SCN5A | c.4391T>A (p.Phe1464Tyr) c.4394T>A (p.Phe1465Tyr) c.4340T>A (p.Phe1447Tyr) c.4232T>A (p.Phe1411Tyr) c.4265T>A (p.Phe1422Tyr) c.4337T>A (p.Phe1446Tyr) | |
| 3 | g.38556485A= | CA1358563457 | SCN5A | c.4390T= (p.Phe1464=) c.4393T= (p.Phe1465=) c.4339T= (p.Phe1447=) c.4231T= (p.Phe1411=) c.4264T= (p.Phe1422=) c.4336T= (p.Phe1446=) | |
| 3 | g.38556485A>C | CA352145302 | SCN5A | c.4390T>G (p.Phe1464Val) c.4393T>G (p.Phe1465Val) c.4339T>G (p.Phe1447Val) c.4231T>G (p.Phe1411Val) c.4264T>G (p.Phe1422Val) c.4336T>G (p.Phe1446Val) | |
| 3 | g.38556485A>G | CA352145304 | SCN5A | c.4390T>C (p.Phe1464Leu) c.4393T>C (p.Phe1465Leu) c.4339T>C (p.Phe1447Leu) c.4231T>C (p.Phe1411Leu) c.4264T>C (p.Phe1422Leu) c.4336T>C (p.Phe1446Leu) | ClinVar dbSNP |
| 3 | g.38556485A>T | CA352145303 | SCN5A | c.4390T>A (p.Phe1464Ile) c.4393T>A (p.Phe1465Ile) c.4339T>A (p.Phe1447Ile) c.4231T>A (p.Phe1411Ile) c.4264T>A (p.Phe1422Ile) c.4336T>A (p.Phe1446Ile) | |
| 3 | g.38556486G>A | CA433136048 | SCN5A | c.4389C>T (p.Leu1463=) c.4392C>T (p.Leu1464=) c.4338C>T (p.Leu1446=) c.4230C>T (p.Leu1410=) c.4263C>T (p.Leu1421=) c.4335C>T (p.Leu1445=) | gnomAD v4 |
| 3 | g.38556486G>C | CA433136049 | SCN5A | c.4389C>G (p.Leu1463=) c.4392C>G (p.Leu1464=) c.4338C>G (p.Leu1446=) c.4230C>G (p.Leu1410=) c.4263C>G (p.Leu1421=) c.4335C>G (p.Leu1445=) | |
| 3 | g.38556486G>T | CA433136047 | SCN5A | c.4389C>A (p.Leu1463=) c.4392C>A (p.Leu1464=) c.4338C>A (p.Leu1446=) c.4230C>A (p.Leu1410=) c.4263C>A (p.Leu1421=) c.4335C>A (p.Leu1445=) | |
| 3 | g.38556487A= | CA1358563458 | SCN5A | c.4388T= (p.Leu1463=) c.4391T= (p.Leu1464=) c.4337T= (p.Leu1446=) c.4229T= (p.Leu1410=) c.4262T= (p.Leu1421=) c.4334T= (p.Leu1445=) | |
| 3 | g.38556487A>C | CA352145305 | SCN5A | c.4388T>G (p.Leu1463Arg) c.4391T>G (p.Leu1464Arg) c.4337T>G (p.Leu1446Arg) c.4229T>G (p.Leu1410Arg) c.4262T>G (p.Leu1421Arg) c.4334T>G (p.Leu1445Arg) | |
| 3 | g.38556487A>G | CA352145307 | SCN5A | c.4388T>C (p.Leu1463Pro) c.4391T>C (p.Leu1464Pro) c.4337T>C (p.Leu1446Pro) c.4229T>C (p.Leu1410Pro) c.4262T>C (p.Leu1421Pro) c.4334T>C (p.Leu1445Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556487A>T | CA352145306 | SCN5A | c.4388T>A (p.Leu1463His) c.4391T>A (p.Leu1464His) c.4337T>A (p.Leu1446His) c.4229T>A (p.Leu1410His) c.4262T>A (p.Leu1421His) c.4334T>A (p.Leu1445His) | |
| 3 | g.38556488G>A | CA352145308 | SCN5A | c.4387C>T (p.Leu1463Phe) c.4390C>T (p.Leu1464Phe) c.4336C>T (p.Leu1446Phe) c.4228C>T (p.Leu1410Phe) c.4261C>T (p.Leu1421Phe) c.4333C>T (p.Leu1445Phe) | |
| 3 | g.38556488G>C | CA352145310 | SCN5A | c.4387C>G (p.Leu1463Val) c.4390C>G (p.Leu1464Val) c.4336C>G (p.Leu1446Val) c.4228C>G (p.Leu1410Val) c.4261C>G (p.Leu1421Val) c.4333C>G (p.Leu1445Val) | |
| 3 | g.38556488G>T | CA352145309 | SCN5A | c.4387C>A (p.Leu1463Ile) c.4390C>A (p.Leu1464Ile) c.4336C>A (p.Leu1446Ile) c.4228C>A (p.Leu1410Ile) c.4261C>A (p.Leu1421Ile) c.4333C>A (p.Leu1445Ile) | |
| 3 | g.38556489G>A | CA433136053 | SCN5A | c.4386C>T (p.Asn1462=) c.4389C>T (p.Asn1463=) c.4335C>T (p.Asn1445=) c.4227C>T (p.Asn1409=) c.4260C>T (p.Asn1420=) c.4332C>T (p.Asn1444=) | |
| 3 | g.38556489G>C | CA352145311 | SCN5A | c.4386C>G (p.Asn1462Lys) c.4389C>G (p.Asn1463Lys) c.4335C>G (p.Asn1445Lys) c.4227C>G (p.Asn1409Lys) c.4260C>G (p.Asn1420Lys) c.4332C>G (p.Asn1444Lys) |