UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554350G>A | CA352143717 | SCN5A | c.4739C>T (p.Ala1580Val) c.4742C>T (p.Ala1581Val) c.4688C>T (p.Ala1563Val) c.4580C>T (p.Ala1527Val) c.4714+25C>T (n.4714+25C>T) n.200C>T c.4613C>T (p.Ala1538Val) c.4685C>T (p.Ala1562Val) | |
| 3 | g.38554350G>C | CA352143719 | SCN5A | c.4739C>G (p.Ala1580Gly) c.4742C>G (p.Ala1581Gly) c.4688C>G (p.Ala1563Gly) c.4580C>G (p.Ala1527Gly) c.4714+25C>G (n.4714+25C>G) n.200C>G c.4613C>G (p.Ala1538Gly) c.4685C>G (p.Ala1562Gly) | |
| 3 | g.38554350G>T | CA352143718 | SCN5A | c.4739C>A (p.Ala1580Asp) c.4742C>A (p.Ala1581Asp) c.4688C>A (p.Ala1563Asp) c.4580C>A (p.Ala1527Asp) c.4714+25C>A (n.4714+25C>A) n.200C>A c.4613C>A (p.Ala1538Asp) c.4685C>A (p.Ala1562Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38554351C>A | CA352143720 | SCN5A | c.4738G>T (p.Ala1580Ser) c.4741G>T (p.Ala1581Ser) c.4687G>T (p.Ala1563Ser) c.4579G>T (p.Ala1527Ser) c.4714+24G>T (n.4714+24G>T) n.199G>T c.4612G>T (p.Ala1538Ser) c.4684G>T (p.Ala1562Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554351C= | CA1358563189 | SCN5A | c.4738G= (p.Ala1580=) c.4741G= (p.Ala1581=) c.4687G= (p.Ala1563=) c.4579G= (p.Ala1527=) c.4714+24G= (n.4714+24G=) n.199G= c.4612G= (p.Ala1538=) c.4684G= (p.Ala1562=) | |
| 3 | g.38554351C>G | CA352143721 | SCN5A | c.4738G>C (p.Ala1580Pro) c.4741G>C (p.Ala1581Pro) c.4687G>C (p.Ala1563Pro) c.4579G>C (p.Ala1527Pro) c.4714+24G>C (n.4714+24G>C) n.199G>C c.4612G>C (p.Ala1538Pro) c.4684G>C (p.Ala1562Pro) | |
| 3 | g.38554351C>T | CA72942439 | SCN5A | c.4738G>A (p.Ala1580Thr) c.4741G>A (p.Ala1581Thr) c.4687G>A (p.Ala1563Thr) c.4579G>A (p.Ala1527Thr) c.4714+24G>A (n.4714+24G>A) n.199G>A c.4612G>A (p.Ala1538Thr) c.4684G>A (p.Ala1562Thr) | dbSNP gnomAD v4 |
| 3 | g.38554352A>C | CA433134562 | SCN5A | c.4737T>G (p.Ala1579=) c.4740T>G (p.Ala1580=) c.4686T>G (p.Ala1562=) c.4578T>G (p.Ala1526=) c.4714+23T>G (n.4714+23T>G) n.198T>G c.4611T>G (p.Ala1537=) c.4683T>G (p.Ala1561=) | |
| 3 | g.38554352A>G | CA433134563 | SCN5A | c.4737T>C (p.Ala1579=) c.4740T>C (p.Ala1580=) c.4686T>C (p.Ala1562=) c.4578T>C (p.Ala1526=) c.4714+23T>C (n.4714+23T>C) n.198T>C c.4611T>C (p.Ala1537=) c.4683T>C (p.Ala1561=) | |
| 3 | g.38554352A>T | CA433134564 | SCN5A | c.4737T>A (p.Ala1579=) c.4740T>A (p.Ala1580=) c.4686T>A (p.Ala1562=) c.4578T>A (p.Ala1526=) c.4714+23T>A (n.4714+23T>A) n.198T>A c.4611T>A (p.Ala1537=) c.4683T>A (p.Ala1561=) | |
| 3 | g.38554353G>A | CA352143722 | SCN5A | c.4736C>T (p.Ala1579Val) c.4739C>T (p.Ala1580Val) c.4685C>T (p.Ala1562Val) c.4577C>T (p.Ala1526Val) c.4714+22C>T (n.4714+22C>T) n.197C>T c.4610C>T (p.Ala1537Val) c.4682C>T (p.Ala1561Val) | |
| 3 | g.38554353G>C | CA352143724 | SCN5A | c.4736C>G (p.Ala1579Gly) c.4739C>G (p.Ala1580Gly) c.4685C>G (p.Ala1562Gly) c.4577C>G (p.Ala1526Gly) c.4714+22C>G (n.4714+22C>G) n.197C>G c.4610C>G (p.Ala1537Gly) c.4682C>G (p.Ala1561Gly) | |
| 3 | g.38554353G>T | CA352143723 | SCN5A | c.4736C>A (p.Ala1579Asp) c.4739C>A (p.Ala1580Asp) c.4685C>A (p.Ala1562Asp) c.4577C>A (p.Ala1526Asp) c.4714+22C>A (n.4714+22C>A) n.197C>A c.4610C>A (p.Ala1537Asp) c.4682C>A (p.Ala1561Asp) | |
| 3 | g.38554354C>A | CA352143725 | SCN5A | c.4735G>T (p.Ala1579Ser) c.4738G>T (p.Ala1580Ser) c.4684G>T (p.Ala1562Ser) c.4576G>T (p.Ala1526Ser) c.4714+21G>T (n.4714+21G>T) n.196G>T c.4609G>T (p.Ala1537Ser) c.4681G>T (p.Ala1561Ser) | ClinVar dbSNP |
| 3 | g.38554354C>G | CA352143727 | SCN5A | c.4735G>C (p.Ala1579Pro) c.4738G>C (p.Ala1580Pro) c.4684G>C (p.Ala1562Pro) c.4576G>C (p.Ala1526Pro) c.4714+21G>C (n.4714+21G>C) n.196G>C c.4609G>C (p.Ala1537Pro) c.4681G>C (p.Ala1561Pro) | |
| 3 | g.38554354C>T | CA352143726 | SCN5A | c.4735G>A (p.Ala1579Thr) c.4738G>A (p.Ala1580Thr) c.4684G>A (p.Ala1562Thr) c.4576G>A (p.Ala1526Thr) c.4714+21G>A (n.4714+21G>A) n.196G>A c.4609G>A (p.Ala1537Thr) c.4681G>A (p.Ala1561Thr) | |
| 3 | g.38554355C>A | CA433134568 | SCN5A | c.4734G>T (p.Leu1578=) c.4737G>T (p.Leu1579=) c.4683G>T (p.Leu1561=) c.4575G>T (p.Leu1525=) c.4714+20G>T (n.4714+20G>T) n.195G>T c.4608G>T (p.Leu1536=) c.4680G>T (p.Leu1560=) | COSMIC COSMIC COSMIC |
| 3 | g.38554355C>G | CA433134569 | SCN5A | c.4734G>C (p.Leu1578=) c.4737G>C (p.Leu1579=) c.4683G>C (p.Leu1561=) c.4575G>C (p.Leu1525=) c.4714+20G>C (n.4714+20G>C) n.195G>C c.4608G>C (p.Leu1536=) c.4680G>C (p.Leu1560=) | |
| 3 | g.38554355C>T | CA433134570 | SCN5A | c.4734G>A (p.Leu1578=) c.4737G>A (p.Leu1579=) c.4683G>A (p.Leu1561=) c.4575G>A (p.Leu1525=) c.4714+20G>A (n.4714+20G>A) n.195G>A c.4608G>A (p.Leu1536=) c.4680G>A (p.Leu1560=) | |
| 3 | g.38554356A>C | CA352143728 | SCN5A | c.4733T>G (p.Leu1578Arg) c.4736T>G (p.Leu1579Arg) c.4682T>G (p.Leu1561Arg) c.4574T>G (p.Leu1525Arg) c.4714+19T>G (n.4714+19T>G) n.194T>G c.4607T>G (p.Leu1536Arg) c.4679T>G (p.Leu1560Arg) | |
| 3 | g.38554356A>G | CA352143730 | SCN5A | c.4733T>C (p.Leu1578Pro) c.4736T>C (p.Leu1579Pro) c.4682T>C (p.Leu1561Pro) c.4574T>C (p.Leu1525Pro) c.4714+19T>C (n.4714+19T>C) n.194T>C c.4607T>C (p.Leu1536Pro) c.4679T>C (p.Leu1560Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554356A>T | CA352143729 | SCN5A | c.4733T>A (p.Leu1578Gln) c.4736T>A (p.Leu1579Gln) c.4682T>A (p.Leu1561Gln) c.4574T>A (p.Leu1525Gln) c.4714+19T>A (n.4714+19T>A) n.194T>A c.4607T>A (p.Leu1536Gln) c.4679T>A (p.Leu1560Gln) | |
| 3 | g.38554357G>A | CA433134571 | SCN5A | c.4732C>T (p.Leu1578=) c.4735C>T (p.Leu1579=) c.4681C>T (p.Leu1561=) c.4573C>T (p.Leu1525=) c.4714+18C>T (n.4714+18C>T) n.193C>T c.4606C>T (p.Leu1536=) c.4678C>T (p.Leu1560=) | |
| 3 | g.38554357G>C | CA352143731 | SCN5A | c.4732C>G (p.Leu1578Val) c.4735C>G (p.Leu1579Val) c.4681C>G (p.Leu1561Val) c.4573C>G (p.Leu1525Val) c.4714+18C>G (n.4714+18C>G) n.193C>G c.4606C>G (p.Leu1536Val) c.4678C>G (p.Leu1560Val) | |
| 3 | g.38554357G>T | CA352143732 | SCN5A | c.4732C>A (p.Leu1578Met) c.4735C>A (p.Leu1579Met) c.4681C>A (p.Leu1561Met) c.4573C>A (p.Leu1525Met) c.4714+18C>A (n.4714+18C>A) n.193C>A c.4606C>A (p.Leu1536Met) c.4678C>A (p.Leu1560Met) | |
| 3 | g.38554358C>A | CA352143733 | SCN5A | c.4731G>T (p.Lys1577Asn) c.4734G>T (p.Lys1578Asn) c.4680G>T (p.Lys1560Asn) c.4572G>T (p.Lys1524Asn) c.4714+17G>T (n.4714+17G>T) n.192G>T c.4605G>T (p.Lys1535Asn) c.4677G>T (p.Lys1559Asn) | |
| 3 | g.38554358C>G | CA352143734 | SCN5A | c.4731G>C (p.Lys1577Asn) c.4734G>C (p.Lys1578Asn) c.4680G>C (p.Lys1560Asn) c.4572G>C (p.Lys1524Asn) c.4714+17G>C (n.4714+17G>C) n.192G>C c.4605G>C (p.Lys1535Asn) c.4677G>C (p.Lys1559Asn) | gnomAD v4 |
| 3 | g.38554358C>T | CA433134576 | SCN5A | c.4731G>A (p.Lys1577=) c.4734G>A (p.Lys1578=) c.4680G>A (p.Lys1560=) c.4572G>A (p.Lys1524=) c.4714+17G>A (n.4714+17G>A) n.192G>A c.4605G>A (p.Lys1535=) c.4677G>A (p.Lys1559=) | gnomAD v4 |
| 3 | g.38554359T>A | CA352143735 | SCN5A | c.4730A>T (p.Lys1577Met) c.4733A>T (p.Lys1578Met) c.4679A>T (p.Lys1560Met) c.4571A>T (p.Lys1524Met) c.4714+16A>T (n.4714+16A>T) n.191A>T c.4604A>T (p.Lys1535Met) c.4676A>T (p.Lys1559Met) | |
| 3 | g.38554359T>C | CA352143736 | SCN5A | c.4730A>G (p.Lys1577Arg) c.4733A>G (p.Lys1578Arg) c.4679A>G (p.Lys1560Arg) c.4571A>G (p.Lys1524Arg) c.4714+16A>G (n.4714+16A>G) n.191A>G c.4604A>G (p.Lys1535Arg) c.4676A>G (p.Lys1559Arg) | |
| 3 | g.38554359T>G | CA352143737 | SCN5A | c.4730A>C (p.Lys1577Thr) c.4733A>C (p.Lys1578Thr) c.4679A>C (p.Lys1560Thr) c.4571A>C (p.Lys1524Thr) c.4714+16A>C (n.4714+16A>C) n.191A>C c.4604A>C (p.Lys1535Thr) c.4676A>C (p.Lys1559Thr) | |
| 3 | g.38554359_38554360dup | CA2586965690 | SCN5A | c.4729_4730dup (p.Leu1578SerfsTer?) c.4732_4733dup (p.Leu1579SerfsTer?) c.4678_4679dup (p.Leu1561SerfsTer?) c.4570_4571dup (p.Leu1525SerfsTer?) c.4714+15_4714+16dup (n.4714+15_4714+16dup) n.190_191dup c.4603_4604dup (p.Leu1536SerfsTer?) c.4675_4676dup (p.Leu1560SerfsTer?) | |
| 3 | g.38554360T>A | CA352143738 | SCN5A | c.4729A>T (p.Lys1577Ter) c.4732A>T (p.Lys1578Ter) c.4678A>T (p.Lys1560Ter) c.4570A>T (p.Lys1524Ter) c.4714+15A>T (n.4714+15A>T) n.190A>T c.4603A>T (p.Lys1535Ter) c.4675A>T (p.Lys1559Ter) | dbSNP |
| 3 | g.38554360T>C | CA352143739 | SCN5A | c.4729A>G (p.Lys1577Glu) c.4732A>G (p.Lys1578Glu) c.4678A>G (p.Lys1560Glu) c.4570A>G (p.Lys1524Glu) c.4714+15A>G (n.4714+15A>G) n.190A>G c.4603A>G (p.Lys1535Glu) c.4675A>G (p.Lys1559Glu) | |
| 3 | g.38554360T>G | CA352143740 | SCN5A | c.4729A>C (p.Lys1577Gln) c.4732A>C (p.Lys1578Gln) c.4678A>C (p.Lys1560Gln) c.4570A>C (p.Lys1524Gln) c.4714+15A>C (n.4714+15A>C) n.190A>C c.4603A>C (p.Lys1535Gln) c.4675A>C (p.Lys1559Gln) | |
| 3 | g.38554360T= | CA1358563194 | SCN5A | c.4729A= (p.Lys1577=) c.4732A= (p.Lys1578=) c.4678A= (p.Lys1560=) c.4570A= (p.Lys1524=) c.4714+15A= (n.4714+15A=) n.190A= c.4603A= (p.Lys1535=) c.4675A= (p.Lys1559=) | |
| 3 | g.38554361G>A | CA433134578 | SCN5A | c.4728C>T (p.Val1576=) c.4731C>T (p.Val1577=) c.4677C>T (p.Val1559=) c.4569C>T (p.Val1523=) c.4714+14C>T (n.4714+14C>T) n.189C>T c.4602C>T (p.Val1534=) c.4674C>T (p.Val1558=) | |
| 3 | g.38554361G>C | CA433134579 | SCN5A | c.4728C>G (p.Val1576=) c.4731C>G (p.Val1577=) c.4677C>G (p.Val1559=) c.4569C>G (p.Val1523=) c.4714+14C>G (n.4714+14C>G) n.189C>G c.4602C>G (p.Val1534=) c.4674C>G (p.Val1558=) | |
| 3 | g.38554361G>T | CA433134580 | SCN5A | c.4728C>A (p.Val1576=) c.4731C>A (p.Val1577=) c.4677C>A (p.Val1559=) c.4569C>A (p.Val1523=) c.4714+14C>A (n.4714+14C>A) n.189C>A c.4602C>A (p.Val1534=) c.4674C>A (p.Val1558=) | |
| 3 | g.38554362A>C | CA352143743 | SCN5A | c.4727T>G (p.Val1576Gly) c.4730T>G (p.Val1577Gly) c.4676T>G (p.Val1559Gly) c.4568T>G (p.Val1523Gly) c.4714+13T>G (n.4714+13T>G) n.188T>G c.4601T>G (p.Val1534Gly) c.4673T>G (p.Val1558Gly) | |
| 3 | g.38554362A>G | CA352143742 | SCN5A | c.4727T>C (p.Val1576Ala) c.4730T>C (p.Val1577Ala) c.4676T>C (p.Val1559Ala) c.4568T>C (p.Val1523Ala) c.4714+13T>C (n.4714+13T>C) n.188T>C c.4601T>C (p.Val1534Ala) c.4673T>C (p.Val1558Ala) | |
| 3 | g.38554362A>T | CA352143741 | SCN5A | c.4727T>A (p.Val1576Asp) c.4730T>A (p.Val1577Asp) c.4676T>A (p.Val1559Asp) c.4568T>A (p.Val1523Asp) c.4714+13T>A (n.4714+13T>A) n.188T>A c.4601T>A (p.Val1534Asp) c.4673T>A (p.Val1558Asp) | |
| 3 | g.38554363C>A | CA352143744 | SCN5A | c.4726G>T (p.Val1576Phe) c.4729G>T (p.Val1577Phe) c.4675G>T (p.Val1559Phe) c.4567G>T (p.Val1523Phe) c.4714+12G>T (n.4714+12G>T) n.187G>T c.4600G>T (p.Val1534Phe) c.4672G>T (p.Val1558Phe) | |
| 3 | g.38554363C= | CA1358563196 | SCN5A | c.4726G= (p.Val1576=) c.4729G= (p.Val1577=) c.4675G= (p.Val1559=) c.4567G= (p.Val1523=) c.4714+12G= (n.4714+12G=) n.187G= c.4600G= (p.Val1534=) c.4672G= (p.Val1558=) | |
| 3 | g.38554363C>G | CA352143745 | SCN5A | c.4726G>C (p.Val1576Leu) c.4729G>C (p.Val1577Leu) c.4675G>C (p.Val1559Leu) c.4567G>C (p.Val1523Leu) c.4714+12G>C (n.4714+12G>C) n.187G>C c.4600G>C (p.Val1534Leu) c.4672G>C (p.Val1558Leu) | gnomAD v4 |
| 3 | g.38554363C>T | CA352143746 | SCN5A | c.4726G>A (p.Val1576Ile) c.4729G>A (p.Val1577Ile) c.4675G>A (p.Val1559Ile) c.4567G>A (p.Val1523Ile) c.4714+12G>A (n.4714+12G>A) n.187G>A c.4600G>A (p.Val1534Ile) c.4672G>A (p.Val1558Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554364A= | CA1358563198 | SCN5A | c.4725T= (p.Ile1575=) c.4728T= (p.Ile1576=) c.4674T= (p.Ile1558=) c.4566T= (p.Ile1522=) c.4714+11T= (n.4714+11T=) n.186T= c.4599T= (p.Ile1533=) c.4671T= (p.Ile1557=) | |
| 3 | g.38554364A>C | CA352143747 | SCN5A | c.4725T>G (p.Ile1575Met) c.4728T>G (p.Ile1576Met) c.4674T>G (p.Ile1558Met) c.4566T>G (p.Ile1522Met) c.4714+11T>G (n.4714+11T>G) n.186T>G c.4599T>G (p.Ile1533Met) c.4671T>G (p.Ile1557Met) | |
| 3 | g.38554364A>G | CA063571 | SCN5A | c.4725T>C (p.Ile1575=) c.4728T>C (p.Ile1576=) c.4674T>C (p.Ile1558=) c.4566T>C (p.Ile1522=) c.4714+11T>C (n.4714+11T>C) n.186T>C c.4599T>C (p.Ile1533=) c.4671T>C (p.Ile1557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554364A>T | CA433134586 | SCN5A | c.4725T>A (p.Ile1575=) c.4728T>A (p.Ile1576=) c.4674T>A (p.Ile1558=) c.4566T>A (p.Ile1522=) c.4714+11T>A (n.4714+11T>A) n.186T>A c.4599T>A (p.Ile1533=) c.4671T>A (p.Ile1557=) | |
| 3 | g.38554365A>C | CA352143748 | SCN5A | c.4724T>G (p.Ile1575Ser) c.4727T>G (p.Ile1576Ser) c.4673T>G (p.Ile1558Ser) c.4565T>G (p.Ile1522Ser) c.4714+10T>G (n.4714+10T>G) n.185T>G c.4598T>G (p.Ile1533Ser) c.4670T>G (p.Ile1557Ser) | |
| 3 | g.38554365A>G | CA352143749 | SCN5A | c.4724T>C (p.Ile1575Thr) c.4727T>C (p.Ile1576Thr) c.4673T>C (p.Ile1558Thr) c.4565T>C (p.Ile1522Thr) c.4714+10T>C (n.4714+10T>C) n.185T>C c.4598T>C (p.Ile1533Thr) c.4670T>C (p.Ile1557Thr) | gnomAD v4 |
| 3 | g.38554365A>T | CA352143750 | SCN5A | c.4724T>A (p.Ile1575Asn) c.4727T>A (p.Ile1576Asn) c.4673T>A (p.Ile1558Asn) c.4565T>A (p.Ile1522Asn) c.4714+10T>A (n.4714+10T>A) n.185T>A c.4598T>A (p.Ile1533Asn) c.4670T>A (p.Ile1557Asn) | |
| 3 | g.38554366T>A | CA352143751 | SCN5A | c.4723A>T (p.Ile1575Phe) c.4726A>T (p.Ile1576Phe) c.4672A>T (p.Ile1558Phe) c.4564A>T (p.Ile1522Phe) c.4714+9A>T (n.4714+9A>T) n.184A>T c.4597A>T (p.Ile1533Phe) c.4669A>T (p.Ile1557Phe) | |
| 3 | g.38554366T>C | CA352143752 | SCN5A | c.4723A>G (p.Ile1575Val) c.4726A>G (p.Ile1576Val) c.4672A>G (p.Ile1558Val) c.4564A>G (p.Ile1522Val) c.4714+9A>G (n.4714+9A>G) n.184A>G c.4597A>G (p.Ile1533Val) c.4669A>G (p.Ile1557Val) | |
| 3 | g.38554366T>G | CA352143753 | SCN5A | c.4723A>C (p.Ile1575Leu) c.4726A>C (p.Ile1576Leu) c.4672A>C (p.Ile1558Leu) c.4564A>C (p.Ile1522Leu) c.4714+9A>C (n.4714+9A>C) n.184A>C c.4597A>C (p.Ile1533Leu) c.4669A>C (p.Ile1557Leu) | |
| 3 | g.38554367A= | CA1358563200 | SCN5A | c.4722T= (p.Cys1574=) c.4725T= (p.Cys1575=) c.4671T= (p.Cys1557=) c.4563T= (p.Cys1521=) c.4714+8T= (n.4714+8T=) n.183T= c.4596T= (p.Cys1532=) c.4668T= (p.Cys1556=) | |
| 3 | g.38554367A>C | CA352143755 | SCN5A | c.4722T>G (p.Cys1574Trp) c.4725T>G (p.Cys1575Trp) c.4671T>G (p.Cys1557Trp) c.4563T>G (p.Cys1521Trp) c.4714+8T>G (n.4714+8T>G) n.183T>G c.4596T>G (p.Cys1532Trp) c.4668T>G (p.Cys1556Trp) | |
| 3 | g.38554367A>G | CA433134588 | SCN5A | c.4722T>C (p.Cys1574=) c.4725T>C (p.Cys1575=) c.4671T>C (p.Cys1557=) c.4563T>C (p.Cys1521=) c.4714+8T>C (n.4714+8T>C) n.183T>C c.4596T>C (p.Cys1532=) c.4668T>C (p.Cys1556=) | |
| 3 | g.38554367A>T | CA352143754 | SCN5A | c.4722T>A (p.Cys1574Ter) c.4725T>A (p.Cys1575Ter) c.4671T>A (p.Cys1557Ter) c.4563T>A (p.Cys1521Ter) c.4714+8T>A (n.4714+8T>A) n.183T>A c.4596T>A (p.Cys1532Ter) c.4668T>A (p.Cys1556Ter) | dbSNP |
| 3 | g.38554368C>A | CA352143756 | SCN5A | c.4721G>T (p.Cys1574Phe) c.4724G>T (p.Cys1575Phe) c.4670G>T (p.Cys1557Phe) c.4562G>T (p.Cys1521Phe) c.4714+7G>T (n.4714+7G>T) n.182G>T c.4595G>T (p.Cys1532Phe) c.4667G>T (p.Cys1556Phe) | |
| 3 | g.38554368C= | CA1358563202 | SCN5A | c.4721G= (p.Cys1574=) c.4724G= (p.Cys1575=) c.4670G= (p.Cys1557=) c.4562G= (p.Cys1521=) c.4714+7G= (n.4714+7G=) n.182G= c.4595G= (p.Cys1532=) c.4667G= (p.Cys1556=) | |
| 3 | g.38554368C>G | CA352143757 | SCN5A | c.4721G>C (p.Cys1574Ser) c.4724G>C (p.Cys1575Ser) c.4670G>C (p.Cys1557Ser) c.4562G>C (p.Cys1521Ser) c.4714+7G>C (n.4714+7G>C) n.182G>C c.4595G>C (p.Cys1532Ser) c.4667G>C (p.Cys1556Ser) | |
| 3 | g.38554368C>T | CA352143758 | SCN5A | c.4721G>A (p.Cys1574Tyr) c.4724G>A (p.Cys1575Tyr) c.4670G>A (p.Cys1557Tyr) c.4562G>A (p.Cys1521Tyr) c.4714+7G>A (n.4714+7G>A) n.182G>A c.4595G>A (p.Cys1532Tyr) c.4667G>A (p.Cys1556Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554369A= | CA1358563204 | SCN5A | c.4720T= (p.Cys1574=) c.4723T= (p.Cys1575=) c.4669T= (p.Cys1557=) c.4561T= (p.Cys1521=) c.4714+6T= (n.4714+6T=) n.181T= c.4594T= (p.Cys1532=) c.4666T= (p.Cys1556=) | |
| 3 | g.38554369A>C | CA352143759 | SCN5A | c.4720T>G (p.Cys1574Gly) c.4723T>G (p.Cys1575Gly) c.4669T>G (p.Cys1557Gly) c.4561T>G (p.Cys1521Gly) c.4714+6T>G (n.4714+6T>G) n.181T>G c.4594T>G (p.Cys1532Gly) c.4666T>G (p.Cys1556Gly) | |
| 3 | g.38554369A>G | CA352143760 | SCN5A | c.4720T>C (p.Cys1574Arg) c.4723T>C (p.Cys1575Arg) c.4669T>C (p.Cys1557Arg) c.4561T>C (p.Cys1521Arg) c.4714+6T>C (n.4714+6T>C) n.181T>C c.4594T>C (p.Cys1532Arg) c.4666T>C (p.Cys1556Arg) | ClinVar |
| 3 | g.38554369A>T | CA352143761 | SCN5A | c.4720T>A (p.Cys1574Ser) c.4723T>A (p.Cys1575Ser) c.4669T>A (p.Cys1557Ser) c.4561T>A (p.Cys1521Ser) c.4714+6T>A (n.4714+6T>A) n.181T>A c.4594T>A (p.Cys1532Ser) c.4666T>A (p.Cys1556Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554370C>A | CA352143762 | SCN5A | c.4719G>T (p.Glu1573Asp) c.4722G>T (p.Glu1574Asp) c.4668G>T (p.Glu1556Asp) c.4560G>T (p.Glu1520Asp) c.4714+5G>T (n.4714+5G>T) n.180G>T c.4593G>T (p.Glu1531Asp) c.4665G>T (p.Glu1555Asp) | |
| 3 | g.38554370C= | CA1358563207 | SCN5A | c.4719G= (p.Glu1573=) c.4722G= (p.Glu1574=) c.4668G= (p.Glu1556=) c.4560G= (p.Glu1520=) c.4714+5G= (n.4714+5G=) n.180G= c.4593G= (p.Glu1531=) c.4665G= (p.Glu1555=) | |
| 3 | g.38554370C>G | CA352143763 | SCN5A | c.4719G>C (p.Glu1573Asp) c.4722G>C (p.Glu1574Asp) c.4668G>C (p.Glu1556Asp) c.4560G>C (p.Glu1520Asp) c.4714+5G>C (n.4714+5G>C) n.180G>C c.4593G>C (p.Glu1531Asp) c.4665G>C (p.Glu1555Asp) | ClinVar gnomAD v4 |
| 3 | g.38554370C>T | CA16604465 | SCN5A | c.4719G>A (p.Glu1573=) c.4722G>A (p.Glu1574=) c.4668G>A (p.Glu1556=) c.4560G>A (p.Glu1520=) c.4714+5G>A (n.4714+5G>A) n.180G>A c.4593G>A (p.Glu1531=) c.4665G>A (p.Glu1555=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554371T>A | CA352143764 | SCN5A | c.4718A>T (p.Glu1573Val) c.4721A>T (p.Glu1574Val) c.4667A>T (p.Glu1556Val) c.4559A>T (p.Glu1520Val) c.4714+4A>T (n.4714+4A>T) n.179A>T c.4592A>T (p.Glu1531Val) c.4664A>T (p.Glu1555Val) | |
| 3 | g.38554371T>C | CA352143765 | SCN5A | c.4718A>G (p.Glu1573Gly) c.4721A>G (p.Glu1574Gly) c.4667A>G (p.Glu1556Gly) c.4559A>G (p.Glu1520Gly) c.4714+4A>G (n.4714+4A>G) n.179A>G c.4592A>G (p.Glu1531Gly) c.4664A>G (p.Glu1555Gly) | COSMIC COSMIC COSMIC |
| 3 | g.38554371T>G | CA352143766 | SCN5A | c.4718A>C (p.Glu1573Ala) c.4721A>C (p.Glu1574Ala) c.4667A>C (p.Glu1556Ala) c.4559A>C (p.Glu1520Ala) c.4714+4A>C (n.4714+4A>C) n.179A>C c.4592A>C (p.Glu1531Ala) c.4664A>C (p.Glu1555Ala) | |
| 3 | g.38554372C>A | CA352143768 | SCN5A | c.4717G>T (p.Glu1573Ter) c.4720G>T (p.Glu1574Ter) c.4666G>T (p.Glu1556Ter) c.4558G>T (p.Glu1520Ter) c.4714+3G>T (n.4714+3G>T) n.178G>T c.4591G>T (p.Glu1531Ter) c.4663G>T (p.Glu1555Ter) | ClinVar dbSNP |
| 3 | g.38554372C= | CA1358563212 | SCN5A | c.4717G= (p.Glu1573=) c.4720G= (p.Glu1574=) c.4666G= (p.Glu1556=) c.4558G= (p.Glu1520=) c.4714+3G= (n.4714+3G=) n.178G= c.4591G= (p.Glu1531=) c.4663G= (p.Glu1555=) | |
| 3 | g.38554372C>G | CA352143767 | SCN5A | c.4717G>C (p.Glu1573Gln) c.4720G>C (p.Glu1574Gln) c.4666G>C (p.Glu1556Gln) c.4558G>C (p.Glu1520Gln) c.4714+3G>C (n.4714+3G>C) n.178G>C c.4591G>C (p.Glu1531Gln) c.4663G>C (p.Glu1555Gln) | COSMIC COSMIC |
| 3 | g.38554372C>T | CA018503 | SCN5A | c.4717G>A (p.Glu1573Lys) c.4720G>A (p.Glu1574Lys) c.4666G>A (p.Glu1556Lys) c.4558G>A (p.Glu1520Lys) c.4714+3G>A (n.4714+3G>A) n.178G>A c.4591G>A (p.Glu1531Lys) c.4663G>A (p.Glu1555Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554373G>A | CA063563 | SCN5A | c.4716C>T (p.Gly1572=) c.4719C>T (p.Gly1573=) c.4665C>T (p.Gly1555=) c.4557C>T (p.Gly1519=) c.4714+2C>T (n.4714+2C>T) n.177C>T c.4590C>T (p.Gly1530=) c.4662C>T (p.Gly1554=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554373G>C | CA352143769 | SCN5A | c.4716C>G (p.Gly1572=) c.4719C>G (p.Gly1573=) c.4665C>G (p.Gly1555=) c.4557C>G (p.Gly1519=) c.4714+2C>G (n.4714+2C>G) n.177C>G c.4590C>G (p.Gly1530=) c.4662C>G (p.Gly1554=) | |
| 3 | g.38554373G= | CA1358563217 | SCN5A | c.4716C= (p.Gly1572=) c.4719C= (p.Gly1573=) c.4665C= (p.Gly1555=) c.4557C= (p.Gly1519=) c.4714+2C= (n.4714+2C=) n.177C= c.4590C= (p.Gly1530=) c.4662C= (p.Gly1554=) | |
| 3 | g.38554373G>T | CA352143770 | SCN5A | c.4716C>A (p.Gly1572=) c.4719C>A (p.Gly1573=) c.4665C>A (p.Gly1555=) c.4557C>A (p.Gly1519=) c.4714+2C>A (n.4714+2C>A) n.177C>A c.4590C>A (p.Gly1530=) c.4662C>A (p.Gly1554=) | |
| 3 | g.38554374C>A | CA352143771 | SCN5A | c.4715G>T (p.Gly1572Val) c.4718G>T (p.Gly1573Val) c.4664G>T (p.Gly1555Val) c.4556G>T (p.Gly1519Val) c.4714+1G>T (n.4714+1G>T) n.176G>T c.4589G>T (p.Gly1530Val) c.4661G>T (p.Gly1554Val) | |
| 3 | g.38554374C>G | CA352143772 | SCN5A | c.4715G>C (p.Gly1572Ala) c.4718G>C (p.Gly1573Ala) c.4664G>C (p.Gly1555Ala) c.4556G>C (p.Gly1519Ala) c.4714+1G>C (n.4714+1G>C) n.176G>C c.4589G>C (p.Gly1530Ala) c.4661G>C (p.Gly1554Ala) | |
| 3 | g.38554374C>T | CA352143773 | SCN5A | c.4715G>A (p.Gly1572Asp) c.4718G>A (p.Gly1573Asp) c.4664G>A (p.Gly1555Asp) c.4556G>A (p.Gly1519Asp) c.4714+1G>A (n.4714+1G>A) n.176G>A c.4589G>A (p.Gly1530Asp) c.4661G>A (p.Gly1554Asp) | |
| 3 | g.38554375C>A | CA352143774 | SCN5A | c.4714G>T (p.Gly1572Cys) c.4717G>T (p.Gly1573Cys) c.4663G>T (p.Gly1555Cys) c.4555G>T (p.Gly1519Cys) n.175G>T c.4588G>T (p.Gly1530Cys) c.4660G>T (p.Gly1554Cys) | |
| 3 | g.38554375C>G | CA352143775 | SCN5A | c.4714G>C (p.Gly1572Arg) c.4717G>C (p.Gly1573Arg) c.4663G>C (p.Gly1555Arg) c.4555G>C (p.Gly1519Arg) n.175G>C c.4588G>C (p.Gly1530Arg) c.4660G>C (p.Gly1554Arg) | |
| 3 | g.38554375C>T | CA352143776 | SCN5A | c.4714G>A (p.Gly1572Ser) c.4717G>A (p.Gly1573Ser) c.4663G>A (p.Gly1555Ser) c.4555G>A (p.Gly1519Ser) n.175G>A c.4588G>A (p.Gly1530Ser) c.4660G>A (p.Gly1554Ser) | |
| 3 | g.38554376T>A | CA433134600 | SCN5A | c.4713A>T (p.Thr1571=) c.4716A>T (p.Thr1572=) c.4662A>T (p.Thr1554=) c.4554A>T (p.Thr1518=) n.174A>T c.4587A>T (p.Thr1529=) c.4659A>T (p.Thr1553=) | |
| 3 | g.38554376T>C | CA433134603 | SCN5A | c.4713A>G (p.Thr1571=) c.4716A>G (p.Thr1572=) c.4662A>G (p.Thr1554=) c.4554A>G (p.Thr1518=) n.174A>G c.4587A>G (p.Thr1529=) c.4659A>G (p.Thr1553=) | ClinVar dbSNP |
| 3 | g.38554376T>G | CA433134602 | SCN5A | c.4713A>C (p.Thr1571=) c.4716A>C (p.Thr1572=) c.4662A>C (p.Thr1554=) c.4554A>C (p.Thr1518=) n.174A>C c.4587A>C (p.Thr1529=) c.4659A>C (p.Thr1553=) | |
| 3 | g.38554377G>A | CA352143777 | SCN5A | c.4712C>T (p.Thr1571Ile) c.4715C>T (p.Thr1572Ile) c.4661C>T (p.Thr1554Ile) c.4553C>T (p.Thr1518Ile) n.173C>T c.4586C>T (p.Thr1529Ile) c.4658C>T (p.Thr1553Ile) | gnomAD v4 |
| 3 | g.38554377G>C | CA352143778 | SCN5A | c.4712C>G (p.Thr1571Arg) c.4715C>G (p.Thr1572Arg) c.4661C>G (p.Thr1554Arg) c.4553C>G (p.Thr1518Arg) n.173C>G c.4586C>G (p.Thr1529Arg) c.4658C>G (p.Thr1553Arg) | ClinVar dbSNP |
| 3 | g.38554377G>T | CA352143779 | SCN5A | c.4712C>A (p.Thr1571Lys) c.4715C>A (p.Thr1572Lys) c.4661C>A (p.Thr1554Lys) c.4553C>A (p.Thr1518Lys) n.173C>A c.4586C>A (p.Thr1529Lys) c.4658C>A (p.Thr1553Lys) | |
| 3 | g.38554378T>A | CA352143782 | SCN5A | c.4711A>T (p.Thr1571Ser) c.4714A>T (p.Thr1572Ser) c.4660A>T (p.Thr1554Ser) c.4552A>T (p.Thr1518Ser) n.172A>T c.4585A>T (p.Thr1529Ser) c.4657A>T (p.Thr1553Ser) | |
| 3 | g.38554378T>C | CA352143781 | SCN5A | c.4711A>G (p.Thr1571Ala) c.4714A>G (p.Thr1572Ala) c.4660A>G (p.Thr1554Ala) c.4552A>G (p.Thr1518Ala) n.172A>G c.4585A>G (p.Thr1529Ala) c.4657A>G (p.Thr1553Ala) | |
| 3 | g.38554378T>G | CA352143780 | SCN5A | c.4711A>C (p.Thr1571Pro) c.4714A>C (p.Thr1572Pro) c.4660A>C (p.Thr1554Pro) c.4552A>C (p.Thr1518Pro) n.172A>C c.4585A>C (p.Thr1529Pro) c.4657A>C (p.Thr1553Pro) | |
| 3 | g.38554379G>A | CA433134604 | SCN5A | c.4710C>T (p.Phe1570=) c.4713C>T (p.Phe1571=) c.4659C>T (p.Phe1553=) c.4551C>T (p.Phe1517=) n.171C>T c.4584C>T (p.Phe1528=) c.4656C>T (p.Phe1552=) | |
| 3 | g.38554379G>C | CA352143783 | SCN5A | c.4710C>G (p.Phe1570Leu) c.4713C>G (p.Phe1571Leu) c.4659C>G (p.Phe1553Leu) c.4551C>G (p.Phe1517Leu) n.171C>G c.4584C>G (p.Phe1528Leu) c.4656C>G (p.Phe1552Leu) | |
| 3 | g.38554379G>T | CA352143784 | SCN5A | c.4710C>A (p.Phe1570Leu) c.4713C>A (p.Phe1571Leu) c.4659C>A (p.Phe1553Leu) c.4551C>A (p.Phe1517Leu) n.171C>A c.4584C>A (p.Phe1528Leu) c.4656C>A (p.Phe1552Leu) | |
| 3 | g.38554380A= | CA1358563220 | SCN5A | c.4709T= (p.Phe1570=) c.4712T= (p.Phe1571=) c.4658T= (p.Phe1553=) c.4550T= (p.Phe1517=) n.170T= c.4583T= (p.Phe1528=) c.4655T= (p.Phe1552=) | |
| 3 | g.38554380A>C | CA018496 | SCN5A | c.4709T>G (p.Phe1570Cys) c.4712T>G (p.Phe1571Cys) c.4658T>G (p.Phe1553Cys) c.4550T>G (p.Phe1517Cys) n.170T>G c.4583T>G (p.Phe1528Cys) c.4655T>G (p.Phe1552Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554380A>G | CA352143785 | SCN5A | c.4709T>C (p.Phe1570Ser) c.4712T>C (p.Phe1571Ser) c.4658T>C (p.Phe1553Ser) c.4550T>C (p.Phe1517Ser) n.170T>C c.4583T>C (p.Phe1528Ser) c.4655T>C (p.Phe1552Ser) | |
| 3 | g.38554380A>T | CA352143786 | SCN5A | c.4709T>A (p.Phe1570Tyr) c.4712T>A (p.Phe1571Tyr) c.4658T>A (p.Phe1553Tyr) c.4550T>A (p.Phe1517Tyr) n.170T>A c.4583T>A (p.Phe1528Tyr) c.4655T>A (p.Phe1552Tyr) | |
| 3 | g.38554381A= | CA1358563222 | SCN5A | c.4708T= (p.Phe1570=) c.4711T= (p.Phe1571=) c.4657T= (p.Phe1553=) c.4549T= (p.Phe1517=) n.169T= c.4582T= (p.Phe1528=) c.4654T= (p.Phe1552=) | |
| 3 | g.38554381A>C | CA352143787 | SCN5A | c.4708T>G (p.Phe1570Val) c.4711T>G (p.Phe1571Val) c.4657T>G (p.Phe1553Val) c.4549T>G (p.Phe1517Val) n.169T>G c.4582T>G (p.Phe1528Val) c.4654T>G (p.Phe1552Val) | |
| 3 | g.38554381A>G | CA352143788 | SCN5A | c.4708T>C (p.Phe1570Leu) c.4711T>C (p.Phe1571Leu) c.4657T>C (p.Phe1553Leu) c.4549T>C (p.Phe1517Leu) n.169T>C c.4582T>C (p.Phe1528Leu) c.4654T>C (p.Phe1552Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554381A>T | CA352143789 | SCN5A | c.4708T>A (p.Phe1570Ile) c.4711T>A (p.Phe1571Ile) c.4657T>A (p.Phe1553Ile) c.4549T>A (p.Phe1517Ile) n.169T>A c.4582T>A (p.Phe1528Ile) c.4654T>A (p.Phe1552Ile) | |
| 3 | g.38554382G>A | CA433134609 | SCN5A | c.4707C>T (p.Ile1569=) c.4710C>T (p.Ile1570=) c.4656C>T (p.Ile1552=) c.4548C>T (p.Ile1516=) n.168C>T c.4581C>T (p.Ile1527=) c.4653C>T (p.Ile1551=) | COSMIC COSMIC COSMIC |
| 3 | g.38554382G>C | CA352143790 | SCN5A | c.4707C>G (p.Ile1569Met) c.4710C>G (p.Ile1570Met) c.4656C>G (p.Ile1552Met) c.4548C>G (p.Ile1516Met) n.168C>G c.4581C>G (p.Ile1527Met) c.4653C>G (p.Ile1551Met) | |
| 3 | g.38554382G>T | CA433134610 | SCN5A | c.4707C>A (p.Ile1569=) c.4710C>A (p.Ile1570=) c.4656C>A (p.Ile1552=) c.4548C>A (p.Ile1516=) n.168C>A c.4581C>A (p.Ile1527=) c.4653C>A (p.Ile1551=) | |
| 3 | g.38554383_38554385dup | CA2586965693 | SCN5A | c.4705_4707dup (p.Ile1569_Phe1570insIle) c.4708_4710dup (p.Ile1570_Phe1571insIle) c.4654_4656dup (p.Ile1552_Phe1553insIle) c.4546_4548dup (p.Ile1516_Phe1517insIle) n.166_168dup c.4579_4581dup (p.Ile1527_Phe1528insIle) c.4651_4653dup (p.Ile1551_Phe1552insIle) | |
| 3 | g.38554383A>C | CA352143791 | SCN5A | c.4706T>G (p.Ile1569Ser) c.4709T>G (p.Ile1570Ser) c.4655T>G (p.Ile1552Ser) c.4547T>G (p.Ile1516Ser) n.167T>G c.4580T>G (p.Ile1527Ser) c.4652T>G (p.Ile1551Ser) | |
| 3 | g.38554383A>G | CA352143792 | SCN5A | c.4706T>C (p.Ile1569Thr) c.4709T>C (p.Ile1570Thr) c.4655T>C (p.Ile1552Thr) c.4547T>C (p.Ile1516Thr) n.167T>C c.4580T>C (p.Ile1527Thr) c.4652T>C (p.Ile1551Thr) | ClinVar |
| 3 | g.38554383A>T | CA352143793 | SCN5A | c.4706T>A (p.Ile1569Asn) c.4709T>A (p.Ile1570Asn) c.4655T>A (p.Ile1552Asn) c.4547T>A (p.Ile1516Asn) n.167T>A c.4580T>A (p.Ile1527Asn) c.4652T>A (p.Ile1551Asn) | |
| 3 | g.38554384T>A | CA352143794 | SCN5A | c.4705A>T (p.Ile1569Phe) c.4708A>T (p.Ile1570Phe) c.4654A>T (p.Ile1552Phe) c.4546A>T (p.Ile1516Phe) n.166A>T c.4579A>T (p.Ile1527Phe) c.4651A>T (p.Ile1551Phe) | |
| 3 | g.38554384T>C | CA352143795 | SCN5A | c.4705A>G (p.Ile1569Val) c.4708A>G (p.Ile1570Val) c.4654A>G (p.Ile1552Val) c.4546A>G (p.Ile1516Val) n.166A>G c.4579A>G (p.Ile1527Val) c.4651A>G (p.Ile1551Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554384T>G | CA352143796 | SCN5A | c.4705A>C (p.Ile1569Leu) c.4708A>C (p.Ile1570Leu) c.4654A>C (p.Ile1552Leu) c.4546A>C (p.Ile1516Leu) n.166A>C c.4579A>C (p.Ile1527Leu) c.4651A>C (p.Ile1551Leu) | |
| 3 | g.38554384T= | CA1358563227 | SCN5A | c.4705A= (p.Ile1569=) c.4708A= (p.Ile1570=) c.4654A= (p.Ile1552=) c.4546A= (p.Ile1516=) n.166A= c.4579A= (p.Ile1527=) c.4651A= (p.Ile1551=) | |
| 3 | g.38554385G>A | CA433134615 | SCN5A | c.4704C>T (p.Ala1568=) c.4707C>T (p.Ala1569=) c.4653C>T (p.Ala1551=) c.4545C>T (p.Ala1515=) n.165C>T c.4578C>T (p.Ala1526=) c.4650C>T (p.Ala1550=) | |
| 3 | g.38554385G>C | CA433134616 | SCN5A | c.4704C>G (p.Ala1568=) c.4707C>G (p.Ala1569=) c.4653C>G (p.Ala1551=) c.4545C>G (p.Ala1515=) n.165C>G c.4578C>G (p.Ala1526=) c.4650C>G (p.Ala1550=) | |
| 3 | g.38554385G>T | CA433134617 | SCN5A | c.4704C>A (p.Ala1568=) c.4707C>A (p.Ala1569=) c.4653C>A (p.Ala1551=) c.4545C>A (p.Ala1515=) n.165C>A c.4578C>A (p.Ala1526=) c.4650C>A (p.Ala1550=) | |
| 3 | g.38554386G>A | CA352143797 | SCN5A | c.4703C>T (p.Ala1568Val) c.4706C>T (p.Ala1569Val) c.4652C>T (p.Ala1551Val) c.4544C>T (p.Ala1515Val) n.164C>T c.4577C>T (p.Ala1526Val) c.4649C>T (p.Ala1550Val) | |
| 3 | g.38554386G>C | CA352143799 | SCN5A | c.4703C>G (p.Ala1568Gly) c.4706C>G (p.Ala1569Gly) c.4652C>G (p.Ala1551Gly) c.4544C>G (p.Ala1515Gly) n.164C>G c.4577C>G (p.Ala1526Gly) c.4649C>G (p.Ala1550Gly) | |
| 3 | g.38554386G>T | CA352143798 | SCN5A | c.4703C>A (p.Ala1568Asp) c.4706C>A (p.Ala1569Asp) c.4652C>A (p.Ala1551Asp) c.4544C>A (p.Ala1515Asp) n.164C>A c.4577C>A (p.Ala1526Asp) c.4649C>A (p.Ala1550Asp) | |
| 3 | g.38554387C>A | CA352143800 | SCN5A | c.4702G>T (p.Ala1568Ser) c.4705G>T (p.Ala1569Ser) c.4651G>T (p.Ala1551Ser) c.4543G>T (p.Ala1515Ser) n.163G>T c.4576G>T (p.Ala1526Ser) c.4648G>T (p.Ala1550Ser) | |
| 3 | g.38554387C= | CA1358563235 | SCN5A | c.4702G= (p.Ala1568=) c.4705G= (p.Ala1569=) c.4651G= (p.Ala1551=) c.4543G= (p.Ala1515=) n.163G= c.4576G= (p.Ala1526=) c.4648G= (p.Ala1550=) | |
| 3 | g.38554387C>G | CA018491 | SCN5A | c.4702G>C (p.Ala1568Pro) c.4705G>C (p.Ala1569Pro) c.4651G>C (p.Ala1551Pro) c.4543G>C (p.Ala1515Pro) n.163G>C c.4576G>C (p.Ala1526Pro) c.4648G>C (p.Ala1550Pro) | ClinVar dbSNP |
| 3 | g.38554387C>T | CA352143801 | SCN5A | c.4702G>A (p.Ala1568Thr) c.4705G>A (p.Ala1569Thr) c.4651G>A (p.Ala1551Thr) c.4543G>A (p.Ala1515Thr) n.163G>A c.4576G>A (p.Ala1526Thr) c.4648G>A (p.Ala1550Thr) | gnomAD v4 |
| 3 | g.38554388C>A | CA433134619 | SCN5A | c.4701G>T (p.Val1567=) c.4704G>T (p.Val1568=) c.4650G>T (p.Val1550=) c.4542G>T (p.Val1514=) n.162G>T c.4575G>T (p.Val1525=) c.4647G>T (p.Val1549=) | |
| 3 | g.38554388C>G | CA433134620 | SCN5A | c.4701G>C (p.Val1567=) c.4704G>C (p.Val1568=) c.4650G>C (p.Val1550=) c.4542G>C (p.Val1514=) n.162G>C c.4575G>C (p.Val1525=) c.4647G>C (p.Val1549=) | ClinVar |
| 3 | g.38554388C>T | CA433134622 | SCN5A | c.4701G>A (p.Val1567=) c.4704G>A (p.Val1568=) c.4650G>A (p.Val1550=) c.4542G>A (p.Val1514=) n.162G>A c.4575G>A (p.Val1525=) c.4647G>A (p.Val1549=) | |
| 3 | g.38554389A>C | CA352143802 | SCN5A | c.4700T>G (p.Val1567Gly) c.4703T>G (p.Val1568Gly) c.4649T>G (p.Val1550Gly) c.4541T>G (p.Val1514Gly) n.161T>G c.4574T>G (p.Val1525Gly) c.4646T>G (p.Val1549Gly) | |
| 3 | g.38554389A>G | CA352143803 | SCN5A | c.4700T>C (p.Val1567Ala) c.4703T>C (p.Val1568Ala) c.4649T>C (p.Val1550Ala) c.4541T>C (p.Val1514Ala) n.161T>C c.4574T>C (p.Val1525Ala) c.4646T>C (p.Val1549Ala) | gnomAD v4 |
| 3 | g.38554389A>T | CA352143804 | SCN5A | c.4700T>A (p.Val1567Glu) c.4703T>A (p.Val1568Glu) c.4649T>A (p.Val1550Glu) c.4541T>A (p.Val1514Glu) n.161T>A c.4574T>A (p.Val1525Glu) c.4646T>A (p.Val1549Glu) | |
| 3 | g.38554390C>A | CA352143805 | SCN5A | c.4699G>T (p.Val1567Leu) c.4702G>T (p.Val1568Leu) c.4648G>T (p.Val1550Leu) c.4540G>T (p.Val1514Leu) n.160G>T c.4573G>T (p.Val1525Leu) c.4645G>T (p.Val1549Leu) | gnomAD v4 |
| 3 | g.38554390C>G | CA352143806 | SCN5A | c.4699G>C (p.Val1567Leu) c.4702G>C (p.Val1568Leu) c.4648G>C (p.Val1550Leu) c.4540G>C (p.Val1514Leu) n.160G>C c.4573G>C (p.Val1525Leu) c.4645G>C (p.Val1549Leu) | |
| 3 | g.38554390C>T | CA352143807 | SCN5A | c.4699G>A (p.Val1567Met) c.4702G>A (p.Val1568Met) c.4648G>A (p.Val1550Met) c.4540G>A (p.Val1514Met) n.160G>A c.4573G>A (p.Val1525Met) c.4645G>A (p.Val1549Met) | gnomAD v4 |
| 3 | g.38554391A>C | CA352143808 | SCN5A | c.4698T>G (p.Phe1566Leu) c.4701T>G (p.Phe1567Leu) c.4647T>G (p.Phe1549Leu) c.4539T>G (p.Phe1513Leu) n.159T>G c.4572T>G (p.Phe1524Leu) c.4644T>G (p.Phe1548Leu) | |
| 3 | g.38554391A>G | CA433134628 | SCN5A | c.4698T>C (p.Phe1566=) c.4701T>C (p.Phe1567=) c.4647T>C (p.Phe1549=) c.4539T>C (p.Phe1513=) n.159T>C c.4572T>C (p.Phe1524=) c.4644T>C (p.Phe1548=) | |
| 3 | g.38554391A>T | CA352143809 | SCN5A | c.4698T>A (p.Phe1566Leu) c.4701T>A (p.Phe1567Leu) c.4647T>A (p.Phe1549Leu) c.4539T>A (p.Phe1513Leu) n.159T>A c.4572T>A (p.Phe1524Leu) c.4644T>A (p.Phe1548Leu) | |
| 3 | g.38554392_38554393del | CA2586965694 | SCN5A | c.4697_4698del (p.Phe1566CysfsTer?) c.4700_4701del (p.Phe1567CysfsTer?) c.4646_4647del (p.Phe1549CysfsTer?) c.4538_4539del (p.Phe1513CysfsTer?) n.158_159del c.4571_4572del (p.Phe1524CysfsTer?) c.4643_4644del (p.Phe1548CysfsTer?) | |
| 3 | g.38554392A>C | CA352143810 | SCN5A | c.4697T>G (p.Phe1566Cys) c.4700T>G (p.Phe1567Cys) c.4646T>G (p.Phe1549Cys) c.4538T>G (p.Phe1513Cys) n.158T>G c.4571T>G (p.Phe1524Cys) c.4643T>G (p.Phe1548Cys) | |
| 3 | g.38554392A>G | CA352143812 | SCN5A | c.4697T>C (p.Phe1566Ser) c.4700T>C (p.Phe1567Ser) c.4646T>C (p.Phe1549Ser) c.4538T>C (p.Phe1513Ser) n.158T>C c.4571T>C (p.Phe1524Ser) c.4643T>C (p.Phe1548Ser) | |
| 3 | g.38554392A>T | CA352143811 | SCN5A | c.4697T>A (p.Phe1566Tyr) c.4700T>A (p.Phe1567Tyr) c.4646T>A (p.Phe1549Tyr) c.4538T>A (p.Phe1513Tyr) n.158T>A c.4571T>A (p.Phe1524Tyr) c.4643T>A (p.Phe1548Tyr) | |
| 3 | g.38554393A= | CA1358563238 | SCN5A | c.4696T= (p.Phe1566=) c.4699T= (p.Phe1567=) c.4645T= (p.Phe1549=) c.4537T= (p.Phe1513=) n.157T= c.4570T= (p.Phe1524=) c.4642T= (p.Phe1548=) | |
| 3 | g.38554393A>C | CA352143813 | SCN5A | c.4696T>G (p.Phe1566Val) c.4699T>G (p.Phe1567Val) c.4645T>G (p.Phe1549Val) c.4537T>G (p.Phe1513Val) n.157T>G c.4570T>G (p.Phe1524Val) c.4642T>G (p.Phe1548Val) | |
| 3 | g.38554393A>G | CA063547 | SCN5A | c.4696T>C (p.Phe1566Leu) c.4699T>C (p.Phe1567Leu) c.4645T>C (p.Phe1549Leu) c.4537T>C (p.Phe1513Leu) n.157T>C c.4570T>C (p.Phe1524Leu) c.4642T>C (p.Phe1548Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554393A>T | CA352143814 | SCN5A | c.4696T>A (p.Phe1566Ile) c.4699T>A (p.Phe1567Ile) c.4645T>A (p.Phe1549Ile) c.4537T>A (p.Phe1513Ile) n.157T>A c.4570T>A (p.Phe1524Ile) c.4642T>A (p.Phe1548Ile) | |
| 3 | g.38554394G>A | CA063535 | SCN5A | c.4695C>T (p.Leu1565=) c.4698C>T (p.Leu1566=) c.4644C>T (p.Leu1548=) c.4536C>T (p.Leu1512=) n.156C>T c.4569C>T (p.Leu1523=) c.4641C>T (p.Leu1547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554394G>C | CA018483 | SCN5A | c.4695C>G (p.Leu1565=) c.4698C>G (p.Leu1566=) c.4644C>G (p.Leu1548=) c.4536C>G (p.Leu1512=) n.156C>G c.4569C>G (p.Leu1523=) c.4641C>G (p.Leu1547=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554394G= | CA1358563246 | SCN5A | c.4695C= (p.Leu1565=) c.4698C= (p.Leu1566=) c.4644C= (p.Leu1548=) c.4536C= (p.Leu1512=) n.156C= c.4569C= (p.Leu1523=) c.4641C= (p.Leu1547=) | |
| 3 | g.38554394G>T | CA433134634 | SCN5A | c.4695C>A (p.Leu1565=) c.4698C>A (p.Leu1566=) c.4644C>A (p.Leu1548=) c.4536C>A (p.Leu1512=) n.156C>A c.4569C>A (p.Leu1523=) c.4641C>A (p.Leu1547=) | gnomAD v4 |
| 3 | g.38554394_38554395delinsGA | CA1358563252 | SCN5A | c.4694_4695delinsTC (p.Leu1565=) c.4697_4698delinsTC (p.Leu1566=) c.4643_4644delinsTC (p.Leu1548=) c.4535_4536delinsTC (p.Leu1512=) n.155_156delinsTC c.4568_4569delinsTC (p.Leu1523=) c.4640_4641delinsTC (p.Leu1547=) | |
| 3 | g.38554394_38554395delinsTT | CA1358563253 | SCN5A | c.4694_4695delinsAA (p.Leu1565Gln) c.4697_4698delinsAA (p.Leu1566Gln) c.4643_4644delinsAA (p.Leu1548Gln) c.4535_4536delinsAA (p.Leu1512Gln) n.155_156delinsAA c.4568_4569delinsAA (p.Leu1523Gln) c.4640_4641delinsAA (p.Leu1547Gln) | ClinVar dbSNP |
| 3 | g.38554395A>C | CA352143815 | SCN5A | c.4694T>G (p.Leu1565Arg) c.4697T>G (p.Leu1566Arg) c.4643T>G (p.Leu1548Arg) c.4535T>G (p.Leu1512Arg) n.155T>G c.4568T>G (p.Leu1523Arg) c.4640T>G (p.Leu1547Arg) | |
| 3 | g.38554395A>G | CA352143816 | SCN5A | c.4694T>C (p.Leu1565Pro) c.4697T>C (p.Leu1566Pro) c.4643T>C (p.Leu1548Pro) c.4535T>C (p.Leu1512Pro) n.155T>C c.4568T>C (p.Leu1523Pro) c.4640T>C (p.Leu1547Pro) | |
| 3 | g.38554395A>T | CA352143817 | SCN5A | c.4694T>A (p.Leu1565His) c.4697T>A (p.Leu1566His) c.4643T>A (p.Leu1548His) c.4535T>A (p.Leu1512His) n.155T>A c.4568T>A (p.Leu1523His) c.4640T>A (p.Leu1547His) | gnomAD v4 |
| 3 | g.38554396G>A | CA352143818 | SCN5A | c.4693C>T (p.Leu1565Phe) c.4696C>T (p.Leu1566Phe) c.4642C>T (p.Leu1548Phe) c.4534C>T (p.Leu1512Phe) n.154C>T c.4567C>T (p.Leu1523Phe) c.4639C>T (p.Leu1547Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554396G>C | CA352143819 | SCN5A | c.4693C>G (p.Leu1565Val) c.4696C>G (p.Leu1566Val) c.4642C>G (p.Leu1548Val) c.4534C>G (p.Leu1512Val) n.154C>G c.4567C>G (p.Leu1523Val) c.4639C>G (p.Leu1547Val) | |
| 3 | g.38554396G= | CA1358563257 | SCN5A | c.4693C= (p.Leu1565=) c.4696C= (p.Leu1566=) c.4642C= (p.Leu1548=) c.4534C= (p.Leu1512=) n.154C= c.4567C= (p.Leu1523=) c.4639C= (p.Leu1547=) | |
| 3 | g.38554396G>T | CA352143820 | SCN5A | c.4693C>A (p.Leu1565Ile) c.4696C>A (p.Leu1566Ile) c.4642C>A (p.Leu1548Ile) c.4534C>A (p.Leu1512Ile) n.154C>A c.4567C>A (p.Leu1523Ile) c.4639C>A (p.Leu1547Ile) | |
| 3 | g.38554397C>A | CA433134636 | SCN5A | c.4692G>T (p.Leu1564=) c.4695G>T (p.Leu1565=) c.4641G>T (p.Leu1547=) c.4533G>T (p.Leu1511=) n.153G>T c.4566G>T (p.Leu1522=) c.4638G>T (p.Leu1546=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554397C= | CA1358563261 | SCN5A | c.4692G= (p.Leu1564=) c.4695G= (p.Leu1565=) c.4641G= (p.Leu1547=) c.4533G= (p.Leu1511=) n.153G= c.4566G= (p.Leu1522=) c.4638G= (p.Leu1546=) | |
| 3 | g.38554397C>G | CA433134637 | SCN5A | c.4692G>C (p.Leu1564=) c.4695G>C (p.Leu1565=) c.4641G>C (p.Leu1547=) c.4533G>C (p.Leu1511=) n.153G>C c.4566G>C (p.Leu1522=) c.4638G>C (p.Leu1546=) | dbSNP gnomAD v4 |
| 3 | g.38554397C>T | CA063516 | SCN5A | c.4692G>A (p.Leu1564=) c.4695G>A (p.Leu1565=) c.4641G>A (p.Leu1547=) c.4533G>A (p.Leu1511=) n.153G>A c.4566G>A (p.Leu1522=) c.4638G>A (p.Leu1546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554398A>C | CA352143823 | SCN5A | c.4691T>G (p.Leu1564Arg) c.4694T>G (p.Leu1565Arg) c.4640T>G (p.Leu1547Arg) c.4532T>G (p.Leu1511Arg) n.152T>G c.4565T>G (p.Leu1522Arg) c.4637T>G (p.Leu1546Arg) | |
| 3 | g.38554398A>G | CA352143821 | SCN5A | c.4691T>C (p.Leu1564Pro) c.4694T>C (p.Leu1565Pro) c.4640T>C (p.Leu1547Pro) c.4532T>C (p.Leu1511Pro) n.152T>C c.4565T>C (p.Leu1522Pro) c.4637T>C (p.Leu1546Pro) | |
| 3 | g.38554398A>T | CA352143822 | SCN5A | c.4691T>A (p.Leu1564Gln) c.4694T>A (p.Leu1565Gln) c.4640T>A (p.Leu1547Gln) c.4532T>A (p.Leu1511Gln) n.152T>A c.4565T>A (p.Leu1522Gln) c.4637T>A (p.Leu1546Gln) | |
| 3 | g.38554399G>A | CA433134639 | SCN5A | c.4690C>T (p.Leu1564=) c.4693C>T (p.Leu1565=) c.4639C>T (p.Leu1547=) c.4531C>T (p.Leu1511=) n.151C>T c.4564C>T (p.Leu1522=) c.4636C>T (p.Leu1546=) | |
| 3 | g.38554399G>C | CA352143824 | SCN5A | c.4690C>G (p.Leu1564Val) c.4693C>G (p.Leu1565Val) c.4639C>G (p.Leu1547Val) c.4531C>G (p.Leu1511Val) n.151C>G c.4564C>G (p.Leu1522Val) c.4636C>G (p.Leu1546Val) | |
| 3 | g.38554399G= | CA1358563265 | SCN5A | c.4690C= (p.Leu1564=) c.4693C= (p.Leu1565=) c.4639C= (p.Leu1547=) c.4531C= (p.Leu1511=) n.151C= c.4564C= (p.Leu1522=) c.4636C= (p.Leu1546=) | |
| 3 | g.38554399G>T | CA352143825 | SCN5A | c.4690C>A (p.Leu1564Met) c.4693C>A (p.Leu1565Met) c.4639C>A (p.Leu1547Met) c.4531C>A (p.Leu1511Met) n.151C>A c.4564C>A (p.Leu1522Met) c.4636C>A (p.Leu1546Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554400G>A | CA433134641 | SCN5A | c.4689C>T (p.Asn1563=) c.4692C>T (p.Asn1564=) c.4638C>T (p.Asn1546=) c.4530C>T (p.Asn1510=) n.150C>T c.4563C>T (p.Asn1521=) c.4635C>T (p.Asn1545=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554400G>C | CA352143826 | SCN5A | c.4689C>G (p.Asn1563Lys) c.4692C>G (p.Asn1564Lys) c.4638C>G (p.Asn1546Lys) c.4530C>G (p.Asn1510Lys) n.150C>G c.4563C>G (p.Asn1521Lys) c.4635C>G (p.Asn1545Lys) | |
| 3 | g.38554400G>T | CA352143827 | SCN5A | c.4689C>A (p.Asn1563Lys) c.4692C>A (p.Asn1564Lys) c.4638C>A (p.Asn1546Lys) c.4530C>A (p.Asn1510Lys) n.150C>A c.4563C>A (p.Asn1521Lys) c.4635C>A (p.Asn1545Lys) | |
| 3 | g.38554401T>A | CA352143828 | SCN5A | c.4688A>T (p.Asn1563Ile) c.4691A>T (p.Asn1564Ile) c.4637A>T (p.Asn1546Ile) c.4529A>T (p.Asn1510Ile) n.149A>T c.4562A>T (p.Asn1521Ile) c.4634A>T (p.Asn1545Ile) | |
| 3 | g.38554401T>C | CA352143829 | SCN5A | c.4688A>G (p.Asn1563Ser) c.4691A>G (p.Asn1564Ser) c.4637A>G (p.Asn1546Ser) c.4529A>G (p.Asn1510Ser) n.149A>G c.4562A>G (p.Asn1521Ser) c.4634A>G (p.Asn1545Ser) | gnomAD v4 |
| 3 | g.38554401T>G | CA352143830 | SCN5A | c.4688A>C (p.Asn1563Thr) c.4691A>C (p.Asn1564Thr) c.4637A>C (p.Asn1546Thr) c.4529A>C (p.Asn1510Thr) n.149A>C c.4562A>C (p.Asn1521Thr) c.4634A>C (p.Asn1545Thr) | |
| 3 | g.38554402T>A | CA352143831 | SCN5A | c.4687A>T (p.Asn1563Tyr) c.4690A>T (p.Asn1564Tyr) c.4636A>T (p.Asn1546Tyr) c.4528A>T (p.Asn1510Tyr) n.148A>T c.4561A>T (p.Asn1521Tyr) c.4633A>T (p.Asn1545Tyr) | |
| 3 | g.38554402T>C | CA352143832 | SCN5A | c.4687A>G (p.Asn1563Asp) c.4690A>G (p.Asn1564Asp) c.4636A>G (p.Asn1546Asp) c.4528A>G (p.Asn1510Asp) n.148A>G c.4561A>G (p.Asn1521Asp) c.4633A>G (p.Asn1545Asp) | |
| 3 | g.38554402T>G | CA352143833 | SCN5A | c.4687A>C (p.Asn1563His) c.4690A>C (p.Asn1564His) c.4636A>C (p.Asn1546His) c.4528A>C (p.Asn1510His) n.148A>C c.4561A>C (p.Asn1521His) c.4633A>C (p.Asn1545His) | |
| 3 | g.38554403G>A | CA433134643 | SCN5A | c.4686C>T (p.Ile1562=) c.4689C>T (p.Ile1563=) c.4635C>T (p.Ile1545=) c.4527C>T (p.Ile1509=) n.147C>T c.4560C>T (p.Ile1520=) c.4632C>T (p.Ile1544=) | gnomAD v4 |
| 3 | g.38554403G>C | CA352143834 | SCN5A | c.4686C>G (p.Ile1562Met) c.4689C>G (p.Ile1563Met) c.4635C>G (p.Ile1545Met) c.4527C>G (p.Ile1509Met) n.147C>G c.4560C>G (p.Ile1520Met) c.4632C>G (p.Ile1544Met) | |
| 3 | g.38554403G>T | CA433134647 | SCN5A | c.4686C>A (p.Ile1562=) c.4689C>A (p.Ile1563=) c.4635C>A (p.Ile1545=) c.4527C>A (p.Ile1509=) n.147C>A c.4560C>A (p.Ile1520=) c.4632C>A (p.Ile1544=) | |
| 3 | g.38554404A>C | CA352143836 | SCN5A | c.4685T>G (p.Ile1562Ser) c.4688T>G (p.Ile1563Ser) c.4634T>G (p.Ile1545Ser) c.4526T>G (p.Ile1509Ser) n.146T>G c.4559T>G (p.Ile1520Ser) c.4631T>G (p.Ile1544Ser) | |
| 3 | g.38554404A>G | CA352143837 | SCN5A | c.4685T>C (p.Ile1562Thr) c.4688T>C (p.Ile1563Thr) c.4634T>C (p.Ile1545Thr) c.4526T>C (p.Ile1509Thr) n.146T>C c.4559T>C (p.Ile1520Thr) c.4631T>C (p.Ile1544Thr) | |
| 3 | g.38554404A>T | CA352143835 | SCN5A | c.4685T>A (p.Ile1562Asn) c.4688T>A (p.Ile1563Asn) c.4634T>A (p.Ile1545Asn) c.4526T>A (p.Ile1509Asn) n.146T>A c.4559T>A (p.Ile1520Asn) c.4631T>A (p.Ile1544Asn) | |
| 3 | g.38554405T>A | CA352143839 | SCN5A | c.4684A>T (p.Ile1562Phe) c.4687A>T (p.Ile1563Phe) c.4633A>T (p.Ile1545Phe) c.4525A>T (p.Ile1509Phe) n.145A>T c.4558A>T (p.Ile1520Phe) c.4630A>T (p.Ile1544Phe) | |
| 3 | g.38554405T>C | CA352143838 | SCN5A | c.4684A>G (p.Ile1562Val) c.4687A>G (p.Ile1563Val) c.4633A>G (p.Ile1545Val) c.4525A>G (p.Ile1509Val) n.145A>G c.4558A>G (p.Ile1520Val) c.4630A>G (p.Ile1544Val) | |
| 3 | g.38554405T>G | CA352143840 | SCN5A | c.4684A>C (p.Ile1562Leu) c.4687A>C (p.Ile1563Leu) c.4633A>C (p.Ile1545Leu) c.4525A>C (p.Ile1509Leu) n.145A>C c.4558A>C (p.Ile1520Leu) c.4630A>C (p.Ile1544Leu) | |
| 3 | g.38554406C>A | CA352143841 | SCN5A | c.4683G>T (p.Lys1561Asn) c.4686G>T (p.Lys1562Asn) c.4632G>T (p.Lys1544Asn) c.4524G>T (p.Lys1508Asn) n.144G>T c.4557G>T (p.Lys1519Asn) c.4629G>T (p.Lys1543Asn) | |
| 3 | g.38554406C= | CA1358563268 | SCN5A | c.4683G= (p.Lys1561=) c.4686G= (p.Lys1562=) c.4632G= (p.Lys1544=) c.4524G= (p.Lys1508=) n.144G= c.4557G= (p.Lys1519=) c.4629G= (p.Lys1543=) | |
| 3 | g.38554406C>G | CA352143842 | SCN5A | c.4683G>C (p.Lys1561Asn) c.4686G>C (p.Lys1562Asn) c.4632G>C (p.Lys1544Asn) c.4524G>C (p.Lys1508Asn) n.144G>C c.4557G>C (p.Lys1519Asn) c.4629G>C (p.Lys1543Asn) | |
| 3 | g.38554406C>T | CA433134649 | SCN5A | c.4683G>A (p.Lys1561=) c.4686G>A (p.Lys1562=) c.4632G>A (p.Lys1544=) c.4524G>A (p.Lys1508=) n.144G>A c.4557G>A (p.Lys1519=) c.4629G>A (p.Lys1543=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554407T>A | CA352143843 | SCN5A | c.4682A>T (p.Lys1561Met) c.4685A>T (p.Lys1562Met) c.4631A>T (p.Lys1544Met) c.4523A>T (p.Lys1508Met) n.143A>T c.4556A>T (p.Lys1519Met) c.4628A>T (p.Lys1543Met) | |
| 3 | g.38554407T>C | CA352143844 | SCN5A | c.4682A>G (p.Lys1561Arg) c.4685A>G (p.Lys1562Arg) c.4631A>G (p.Lys1544Arg) c.4523A>G (p.Lys1508Arg) n.143A>G c.4556A>G (p.Lys1519Arg) c.4628A>G (p.Lys1543Arg) | |
| 3 | g.38554407T>G | CA352143845 | SCN5A | c.4682A>C (p.Lys1561Thr) c.4685A>C (p.Lys1562Thr) c.4631A>C (p.Lys1544Thr) c.4523A>C (p.Lys1508Thr) n.143A>C c.4556A>C (p.Lys1519Thr) c.4628A>C (p.Lys1543Thr) | |
| 3 | g.38554408T>A | CA352143846 | SCN5A | c.4681A>T (p.Lys1561Ter) c.4684A>T (p.Lys1562Ter) c.4630A>T (p.Lys1544Ter) c.4522A>T (p.Lys1508Ter) n.142A>T c.4555A>T (p.Lys1519Ter) c.4627A>T (p.Lys1543Ter) | dbSNP gnomAD v4 |
| 3 | g.38554408T>C | CA352143847 | SCN5A | c.4681A>G (p.Lys1561Glu) c.4684A>G (p.Lys1562Glu) c.4630A>G (p.Lys1544Glu) c.4522A>G (p.Lys1508Glu) n.142A>G c.4555A>G (p.Lys1519Glu) c.4627A>G (p.Lys1543Glu) | |
| 3 | g.38554408T>G | CA352143848 | SCN5A | c.4681A>C (p.Lys1561Gln) c.4684A>C (p.Lys1562Gln) c.4630A>C (p.Lys1544Gln) c.4522A>C (p.Lys1508Gln) n.142A>C c.4555A>C (p.Lys1519Gln) c.4627A>C (p.Lys1543Gln) | |
| 3 | g.38554408T= | CA1358563272 | SCN5A | c.4681A= (p.Lys1561=) c.4684A= (p.Lys1562=) c.4630A= (p.Lys1544=) c.4522A= (p.Lys1508=) n.142A= c.4555A= (p.Lys1519=) c.4627A= (p.Lys1543=) | |
| 3 | g.38554409G>A | CA433134651 | SCN5A | c.4680C>T (p.Ala1560=) c.4683C>T (p.Ala1561=) c.4629C>T (p.Ala1543=) c.4521C>T (p.Ala1507=) n.141C>T c.4554C>T (p.Ala1518=) c.4626C>T (p.Ala1542=) | ClinVar gnomAD v4 |
| 3 | g.38554409G>C | CA433134652 | SCN5A | c.4680C>G (p.Ala1560=) c.4683C>G (p.Ala1561=) c.4629C>G (p.Ala1543=) c.4521C>G (p.Ala1507=) n.141C>G c.4554C>G (p.Ala1518=) c.4626C>G (p.Ala1542=) | |
| 3 | g.38554409G>T | CA433134653 | SCN5A | c.4680C>A (p.Ala1560=) c.4683C>A (p.Ala1561=) c.4629C>A (p.Ala1543=) c.4521C>A (p.Ala1507=) n.141C>A c.4554C>A (p.Ala1518=) c.4626C>A (p.Ala1542=) | |
| 3 | g.38554410G>A | CA352143849 | SCN5A | c.4679C>T (p.Ala1560Val) c.4682C>T (p.Ala1561Val) c.4628C>T (p.Ala1543Val) c.4520C>T (p.Ala1507Val) n.140C>T c.4553C>T (p.Ala1518Val) c.4625C>T (p.Ala1542Val) | |
| 3 | g.38554410G>C | CA352143850 | SCN5A | c.4679C>G (p.Ala1560Gly) c.4682C>G (p.Ala1561Gly) c.4628C>G (p.Ala1543Gly) c.4520C>G (p.Ala1507Gly) n.140C>G c.4553C>G (p.Ala1518Gly) c.4625C>G (p.Ala1542Gly) | dbSNP |
| 3 | g.38554410G= | CA1358563275 | SCN5A | c.4679C= (p.Ala1560=) c.4682C= (p.Ala1561=) c.4628C= (p.Ala1543=) c.4520C= (p.Ala1507=) n.140C= c.4553C= (p.Ala1518=) c.4625C= (p.Ala1542=) | |
| 3 | g.38554410G>T | CA352143851 | SCN5A | c.4679C>A (p.Ala1560Asp) c.4682C>A (p.Ala1561Asp) c.4628C>A (p.Ala1543Asp) c.4520C>A (p.Ala1507Asp) n.140C>A c.4553C>A (p.Ala1518Asp) c.4625C>A (p.Ala1542Asp) | |
| 3 | g.38554411C>A | CA352143852 | SCN5A | c.4678G>T (p.Ala1560Ser) c.4681G>T (p.Ala1561Ser) c.4627G>T (p.Ala1543Ser) c.4519G>T (p.Ala1507Ser) n.139G>T c.4552G>T (p.Ala1518Ser) c.4624G>T (p.Ala1542Ser) | |
| 3 | g.38554411C>G | CA352143853 | SCN5A | c.4678G>C (p.Ala1560Pro) c.4681G>C (p.Ala1561Pro) c.4627G>C (p.Ala1543Pro) c.4519G>C (p.Ala1507Pro) n.139G>C c.4552G>C (p.Ala1518Pro) c.4624G>C (p.Ala1542Pro) | |
| 3 | g.38554411C>T | CA352143854 | SCN5A | c.4678G>A (p.Ala1560Thr) c.4681G>A (p.Ala1561Thr) c.4627G>A (p.Ala1543Thr) c.4519G>A (p.Ala1507Thr) n.139G>A c.4552G>A (p.Ala1518Thr) c.4624G>A (p.Ala1542Thr) | gnomAD v4 |
| 3 | g.38554412C>A | CA352143855 | SCN5A | c.4677G>T (p.Leu1559Phe) c.4680G>T (p.Leu1560Phe) c.4626G>T (p.Leu1542Phe) c.4518G>T (p.Leu1506Phe) n.138G>T c.4551G>T (p.Leu1517Phe) c.4623G>T (p.Leu1541Phe) | |
| 3 | g.38554412C= | CA1358563285 | SCN5A | c.4677G= (p.Leu1559=) c.4680G= (p.Leu1560=) c.4626G= (p.Leu1542=) c.4518G= (p.Leu1506=) n.138G= c.4551G= (p.Leu1517=) c.4623G= (p.Leu1541=) | |
| 3 | g.38554412C>G | CA018476 | SCN5A | c.4677G>C (p.Leu1559Phe) c.4680G>C (p.Leu1560Phe) c.4626G>C (p.Leu1542Phe) c.4518G>C (p.Leu1506Phe) n.138G>C c.4551G>C (p.Leu1517Phe) c.4623G>C (p.Leu1541Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554412C>T | CA433134654 | SCN5A | c.4677G>A (p.Leu1559=) c.4680G>A (p.Leu1560=) c.4626G>A (p.Leu1542=) c.4518G>A (p.Leu1506=) n.138G>A c.4551G>A (p.Leu1517=) c.4623G>A (p.Leu1541=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554413A= | CA1358563295 | SCN5A | c.4676T= (p.Leu1559=) c.4679T= (p.Leu1560=) c.4625T= (p.Leu1542=) c.4517T= (p.Leu1506=) n.137T= c.4550T= (p.Leu1517=) c.4622T= (p.Leu1541=) | |
| 3 | g.38554413A>C | CA352143856 | SCN5A | c.4676T>G (p.Leu1559Trp) c.4679T>G (p.Leu1560Trp) c.4625T>G (p.Leu1542Trp) c.4517T>G (p.Leu1506Trp) n.137T>G c.4550T>G (p.Leu1517Trp) c.4622T>G (p.Leu1541Trp) | |
| 3 | g.38554413A>G | CA352143857 | SCN5A | c.4676T>C (p.Leu1559Ser) c.4679T>C (p.Leu1560Ser) c.4625T>C (p.Leu1542Ser) c.4517T>C (p.Leu1506Ser) n.137T>C c.4550T>C (p.Leu1517Ser) c.4622T>C (p.Leu1541Ser) | |
| 3 | g.38554413A>T | CA352143858 | SCN5A | c.4676T>A (p.Leu1559Ter) c.4679T>A (p.Leu1560Ter) c.4625T>A (p.Leu1542Ter) c.4517T>A (p.Leu1506Ter) n.137T>A c.4550T>A (p.Leu1517Ter) c.4622T>A (p.Leu1541Ter) | dbSNP |
| 3 | g.38554414A= | CA1358563299 | SCN5A | c.4675T= (p.Leu1559=) c.4678T= (p.Leu1560=) c.4624T= (p.Leu1542=) c.4516T= (p.Leu1506=) n.136T= c.4549T= (p.Leu1517=) c.4621T= (p.Leu1541=) | |
| 3 | g.38554414A>C | CA352143859 | SCN5A | c.4675T>G (p.Leu1559Val) c.4678T>G (p.Leu1560Val) c.4624T>G (p.Leu1542Val) c.4516T>G (p.Leu1506Val) n.136T>G c.4549T>G (p.Leu1517Val) c.4621T>G (p.Leu1541Val) | |
| 3 | g.38554414A>G | CA433134659 | SCN5A | c.4675T>C (p.Leu1559=) c.4678T>C (p.Leu1560=) c.4624T>C (p.Leu1542=) c.4516T>C (p.Leu1506=) n.136T>C c.4549T>C (p.Leu1517=) c.4621T>C (p.Leu1541=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554414A>T | CA352143860 | SCN5A | c.4675T>A (p.Leu1559Met) c.4678T>A (p.Leu1560Met) c.4624T>A (p.Leu1542Met) c.4516T>A (p.Leu1506Met) n.136T>A c.4549T>A (p.Leu1517Met) c.4621T>A (p.Leu1541Met) | |
| 3 | g.38554415G>A | CA433134661 | SCN5A | c.4674C>T (p.Ile1558=) c.4677C>T (p.Ile1559=) c.4623C>T (p.Ile1541=) c.4515C>T (p.Ile1505=) n.135C>T c.4548C>T (p.Ile1516=) c.4620C>T (p.Ile1540=) | |
| 3 | g.38554415G>C | CA352143861 | SCN5A | c.4674C>G (p.Ile1558Met) c.4677C>G (p.Ile1559Met) c.4623C>G (p.Ile1541Met) c.4515C>G (p.Ile1505Met) n.135C>G c.4548C>G (p.Ile1516Met) c.4620C>G (p.Ile1540Met) | |
| 3 | g.38554415G>T | CA433134663 | SCN5A | c.4674C>A (p.Ile1558=) c.4677C>A (p.Ile1559=) c.4623C>A (p.Ile1541=) c.4515C>A (p.Ile1505=) n.135C>A c.4548C>A (p.Ile1516=) c.4620C>A (p.Ile1540=) | gnomAD v4 |
| 3 | g.38554416A= | CA1358563301 | SCN5A | c.4673T= (p.Ile1558=) c.4676T= (p.Ile1559=) c.4622T= (p.Ile1541=) c.4514T= (p.Ile1505=) n.134T= c.4547T= (p.Ile1516=) c.4619T= (p.Ile1540=) | |
| 3 | g.38554416A>C | CA352143862 | SCN5A | c.4673T>G (p.Ile1558Ser) c.4676T>G (p.Ile1559Ser) c.4622T>G (p.Ile1541Ser) c.4514T>G (p.Ile1505Ser) n.134T>G c.4547T>G (p.Ile1516Ser) c.4619T>G (p.Ile1540Ser) | |
| 3 | g.38554416A>G | CA352143863 | SCN5A | c.4673T>C (p.Ile1558Thr) c.4676T>C (p.Ile1559Thr) c.4622T>C (p.Ile1541Thr) c.4514T>C (p.Ile1505Thr) n.134T>C c.4547T>C (p.Ile1516Thr) c.4619T>C (p.Ile1540Thr) | dbSNP gnomAD v4 |
| 3 | g.38554416A>T | CA352143864 | SCN5A | c.4673T>A (p.Ile1558Asn) c.4676T>A (p.Ile1559Asn) c.4622T>A (p.Ile1541Asn) c.4514T>A (p.Ile1505Asn) n.134T>A c.4547T>A (p.Ile1516Asn) c.4619T>A (p.Ile1540Asn) | |
| 3 | g.38554417T>A | CA352143865 | SCN5A | c.4672A>T (p.Ile1558Phe) c.4675A>T (p.Ile1559Phe) c.4621A>T (p.Ile1541Phe) c.4513A>T (p.Ile1505Phe) n.133A>T c.4546A>T (p.Ile1516Phe) c.4618A>T (p.Ile1540Phe) | |
| 3 | g.38554417T>C | CA063509 | SCN5A | c.4672A>G (p.Ile1558Val) c.4675A>G (p.Ile1559Val) c.4621A>G (p.Ile1541Val) c.4513A>G (p.Ile1505Val) n.133A>G c.4546A>G (p.Ile1516Val) c.4618A>G (p.Ile1540Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554417T>G | CA352143866 | SCN5A | c.4672A>C (p.Ile1558Leu) c.4675A>C (p.Ile1559Leu) c.4621A>C (p.Ile1541Leu) c.4513A>C (p.Ile1505Leu) n.133A>C c.4546A>C (p.Ile1516Leu) c.4618A>C (p.Ile1540Leu) | |
| 3 | g.38554417T= | CA1358563304 | SCN5A | c.4672A= (p.Ile1558=) c.4675A= (p.Ile1559=) c.4621A= (p.Ile1541=) c.4513A= (p.Ile1505=) n.133A= c.4546A= (p.Ile1516=) c.4618A= (p.Ile1540=) | |
| 3 | g.38554418del | CA433134671 | SCN5A | c.4671del (p.Asn1557LysfsTer?) c.4674del (p.Asn1558LysfsTer?) c.4620del (p.Asn1540LysfsTer?) c.4512del (p.Asn1504LysfsTer?) n.132del c.4545del (p.Asn1515LysfsTer?) c.4617del (p.Asn1539LysfsTer?) | COSMIC |
| 3 | g.38554418G>A | CA433134669 | SCN5A | c.4671C>T (p.Asn1557=) c.4674C>T (p.Asn1558=) c.4620C>T (p.Asn1540=) c.4512C>T (p.Asn1504=) n.132C>T c.4545C>T (p.Asn1515=) c.4617C>T (p.Asn1539=) | dbSNP |
| 3 | g.38554418G>C | CA352143867 | SCN5A | c.4671C>G (p.Asn1557Lys) c.4674C>G (p.Asn1558Lys) c.4620C>G (p.Asn1540Lys) c.4512C>G (p.Asn1504Lys) n.132C>G c.4545C>G (p.Asn1515Lys) c.4617C>G (p.Asn1539Lys) | |
| 3 | g.38554418G= | CA1358563312 | SCN5A | c.4671C= (p.Asn1557=) c.4674C= (p.Asn1558=) c.4620C= (p.Asn1540=) c.4512C= (p.Asn1504=) n.132C= c.4545C= (p.Asn1515=) c.4617C= (p.Asn1539=) | |
| 3 | g.38554418G>T | CA352143868 | SCN5A | c.4671C>A (p.Asn1557Lys) c.4674C>A (p.Asn1558Lys) c.4620C>A (p.Asn1540Lys) c.4512C>A (p.Asn1504Lys) n.132C>A c.4545C>A (p.Asn1515Lys) c.4617C>A (p.Asn1539Lys) | |
| 3 | g.38554418dup | CA1358563311 | SCN5A | c.4671dup (p.Ile1558HisfsTer?) c.4674dup (p.Ile1559HisfsTer?) c.4620dup (p.Ile1541HisfsTer?) c.4512dup (p.Ile1505HisfsTer?) n.132dup c.4545dup (p.Ile1516HisfsTer?) c.4617dup (p.Ile1540HisfsTer?) | dbSNP |
| 3 | g.38554419T>A | CA352143869 | SCN5A | c.4670A>T (p.Asn1557Ile) c.4673A>T (p.Asn1558Ile) c.4619A>T (p.Asn1540Ile) c.4511A>T (p.Asn1504Ile) n.131A>T c.4544A>T (p.Asn1515Ile) c.4616A>T (p.Asn1539Ile) | |
| 3 | g.38554419T>C | CA352143870 | SCN5A | c.4670A>G (p.Asn1557Ser) c.4673A>G (p.Asn1558Ser) c.4619A>G (p.Asn1540Ser) c.4511A>G (p.Asn1504Ser) n.131A>G c.4544A>G (p.Asn1515Ser) c.4616A>G (p.Asn1539Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554419T>G | CA352143871 | SCN5A | c.4670A>C (p.Asn1557Thr) c.4673A>C (p.Asn1558Thr) c.4619A>C (p.Asn1540Thr) c.4511A>C (p.Asn1504Thr) n.131A>C c.4544A>C (p.Asn1515Thr) c.4616A>C (p.Asn1539Thr) | |
| 3 | g.38554419T= | CA1358563318 | SCN5A | c.4670A= (p.Asn1557=) c.4673A= (p.Asn1558=) c.4619A= (p.Asn1540=) c.4511A= (p.Asn1504=) n.131A= c.4544A= (p.Asn1515=) c.4616A= (p.Asn1539=) | |
| 3 | g.38554421_38554425dup | CA2577553273 | SCN5A | c.4666_4670dup (p.Asn1557LysfsTer?) c.4669_4673dup (p.Asn1558LysfsTer?) c.4615_4619dup (p.Asn1540LysfsTer?) c.4507_4511dup (p.Asn1504LysfsTer?) n.127_131dup c.4540_4544dup (p.Asn1515LysfsTer?) c.4612_4616dup (p.Asn1539LysfsTer?) | |
| 3 | g.38554420T>A | CA352143872 | SCN5A | c.4669A>T (p.Asn1557Tyr) c.4672A>T (p.Asn1558Tyr) c.4618A>T (p.Asn1540Tyr) c.4510A>T (p.Asn1504Tyr) n.130A>T c.4543A>T (p.Asn1515Tyr) c.4615A>T (p.Asn1539Tyr) | |
| 3 | g.38554420T>C | CA352143873 | SCN5A | c.4669A>G (p.Asn1557Asp) c.4672A>G (p.Asn1558Asp) c.4618A>G (p.Asn1540Asp) c.4510A>G (p.Asn1504Asp) n.130A>G c.4543A>G (p.Asn1515Asp) c.4615A>G (p.Asn1539Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554420T>G | CA352143874 | SCN5A | c.4669A>C (p.Asn1557His) c.4672A>C (p.Asn1558His) c.4618A>C (p.Asn1540His) c.4510A>C (p.Asn1504His) n.130A>C c.4543A>C (p.Asn1515His) c.4615A>C (p.Asn1539His) | |
| 3 | g.38554420T= | CA1358563324 | SCN5A | c.4669A= (p.Asn1557=) c.4672A= (p.Asn1558=) c.4618A= (p.Asn1540=) c.4510A= (p.Asn1504=) n.130A= c.4543A= (p.Asn1515=) c.4615A= (p.Asn1539=) | |
| 3 | g.38554421G>A | CA10618698 | SCN5A | c.4668C>T (p.Ile1556=) c.4671C>T (p.Ile1557=) c.4617C>T (p.Ile1539=) c.4509C>T (p.Ile1503=) n.129C>T c.4542C>T (p.Ile1514=) c.4614C>T (p.Ile1538=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554421G>C | CA352143875 | SCN5A | c.4668C>G (p.Ile1556Met) c.4671C>G (p.Ile1557Met) c.4617C>G (p.Ile1539Met) c.4509C>G (p.Ile1503Met) n.129C>G c.4542C>G (p.Ile1514Met) c.4614C>G (p.Ile1538Met) | gnomAD v4 |
| 3 | g.38554421G= | CA1358563327 | SCN5A | c.4668C= (p.Ile1556=) c.4671C= (p.Ile1557=) c.4617C= (p.Ile1539=) c.4509C= (p.Ile1503=) n.129C= c.4542C= (p.Ile1514=) c.4614C= (p.Ile1538=) | |
| 3 | g.38554421G>T | CA433134677 | SCN5A | c.4668C>A (p.Ile1556=) c.4671C>A (p.Ile1557=) c.4617C>A (p.Ile1539=) c.4509C>A (p.Ile1503=) n.129C>A c.4542C>A (p.Ile1514=) c.4614C>A (p.Ile1538=) | |
| 3 | g.38554422A>C | CA352143876 | SCN5A | c.4667T>G (p.Ile1556Ser) c.4670T>G (p.Ile1557Ser) c.4616T>G (p.Ile1539Ser) c.4508T>G (p.Ile1503Ser) n.128T>G c.4541T>G (p.Ile1514Ser) c.4613T>G (p.Ile1538Ser) | |
| 3 | g.38554422A>G | CA352143877 | SCN5A | c.4667T>C (p.Ile1556Thr) c.4670T>C (p.Ile1557Thr) c.4616T>C (p.Ile1539Thr) c.4508T>C (p.Ile1503Thr) n.128T>C c.4541T>C (p.Ile1514Thr) c.4613T>C (p.Ile1538Thr) | |
| 3 | g.38554422A>T | CA352143878 | SCN5A | c.4667T>A (p.Ile1556Asn) c.4670T>A (p.Ile1557Asn) c.4616T>A (p.Ile1539Asn) c.4508T>A (p.Ile1503Asn) n.128T>A c.4541T>A (p.Ile1514Asn) c.4613T>A (p.Ile1538Asn) | |
| 3 | g.38554423T>A | CA352143879 | SCN5A | c.4666A>T (p.Ile1556Phe) c.4669A>T (p.Ile1557Phe) c.4615A>T (p.Ile1539Phe) c.4507A>T (p.Ile1503Phe) n.127A>T c.4540A>T (p.Ile1514Phe) c.4612A>T (p.Ile1538Phe) | |
| 3 | g.38554423T>C | CA063506 | SCN5A | c.4666A>G (p.Ile1556Val) c.4669A>G (p.Ile1557Val) c.4615A>G (p.Ile1539Val) c.4507A>G (p.Ile1503Val) n.127A>G c.4540A>G (p.Ile1514Val) c.4612A>G (p.Ile1538Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554423T>G | CA352143880 | SCN5A | c.4666A>C (p.Ile1556Leu) c.4669A>C (p.Ile1557Leu) c.4615A>C (p.Ile1539Leu) c.4507A>C (p.Ile1503Leu) n.127A>C c.4540A>C (p.Ile1514Leu) c.4612A>C (p.Ile1538Leu) | |
| 3 | g.38554423T= | CA1358563330 | SCN5A | c.4666A= (p.Ile1556=) c.4669A= (p.Ile1557=) c.4615A= (p.Ile1539=) c.4507A= (p.Ile1503=) n.127A= c.4540A= (p.Ile1514=) c.4612A= (p.Ile1538=) | |
| 3 | g.38554426dup | CA2665110380 | SCN5A | c.4666dup (p.Ile1556AsnfsTer?) c.4669dup (p.Ile1557AsnfsTer?) c.4615dup (p.Ile1539AsnfsTer?) c.4507dup (p.Ile1503AsnfsTer?) n.127dup c.4540dup (p.Ile1514AsnfsTer?) c.4612dup (p.Ile1538AsnfsTer?) | gnomAD v4 |
| 3 | g.38554424T>A | CA352143881 | SCN5A | c.4665A>T (p.Lys1555Asn) c.4668A>T (p.Lys1556Asn) c.4614A>T (p.Lys1538Asn) c.4506A>T (p.Lys1502Asn) n.126A>T c.4539A>T (p.Lys1513Asn) c.4611A>T (p.Lys1537Asn) | gnomAD v4 |
| 3 | g.38554424T>C | CA433134684 | SCN5A | c.4665A>G (p.Lys1555=) c.4668A>G (p.Lys1556=) c.4614A>G (p.Lys1538=) c.4506A>G (p.Lys1502=) n.126A>G c.4539A>G (p.Lys1513=) c.4611A>G (p.Lys1537=) | |
| 3 | g.38554424T>G | CA352143882 | SCN5A | c.4665A>C (p.Lys1555Asn) c.4668A>C (p.Lys1556Asn) c.4614A>C (p.Lys1538Asn) c.4506A>C (p.Lys1502Asn) n.126A>C c.4539A>C (p.Lys1513Asn) c.4611A>C (p.Lys1537Asn) | |
| 3 | g.38554425T>A | CA352143883 | SCN5A | c.4664A>T (p.Lys1555Ile) c.4667A>T (p.Lys1556Ile) c.4613A>T (p.Lys1538Ile) c.4505A>T (p.Lys1502Ile) n.125A>T c.4538A>T (p.Lys1513Ile) c.4610A>T (p.Lys1537Ile) | |
| 3 | g.38554425T>C | CA352143884 | SCN5A | c.4664A>G (p.Lys1555Arg) c.4667A>G (p.Lys1556Arg) c.4613A>G (p.Lys1538Arg) c.4505A>G (p.Lys1502Arg) n.125A>G c.4538A>G (p.Lys1513Arg) c.4610A>G (p.Lys1537Arg) | |
| 3 | g.38554425T>G | CA352143885 | SCN5A | c.4664A>C (p.Lys1555Thr) c.4667A>C (p.Lys1556Thr) c.4613A>C (p.Lys1538Thr) c.4505A>C (p.Lys1502Thr) n.125A>C c.4538A>C (p.Lys1513Thr) c.4610A>C (p.Lys1537Thr) | |
| 3 | g.38554426T>A | CA352143886 | SCN5A | c.4663A>T (p.Lys1555Ter) c.4666A>T (p.Lys1556Ter) c.4612A>T (p.Lys1538Ter) c.4504A>T (p.Lys1502Ter) n.124A>T c.4537A>T (p.Lys1513Ter) c.4609A>T (p.Lys1537Ter) | dbSNP |
| 3 | g.38554426T>C | CA352143887 | SCN5A | c.4663A>G (p.Lys1555Glu) c.4666A>G (p.Lys1556Glu) c.4612A>G (p.Lys1538Glu) c.4504A>G (p.Lys1502Glu) n.124A>G c.4537A>G (p.Lys1513Glu) c.4609A>G (p.Lys1537Glu) | |
| 3 | g.38554426T>G | CA352143888 | SCN5A | c.4663A>C (p.Lys1555Gln) c.4666A>C (p.Lys1556Gln) c.4612A>C (p.Lys1538Gln) c.4504A>C (p.Lys1502Gln) n.124A>C c.4537A>C (p.Lys1513Gln) c.4609A>C (p.Lys1537Gln) | |
| 3 | g.38554426T= | CA1358563334 | SCN5A | c.4663A= (p.Lys1555=) c.4666A= (p.Lys1556=) c.4612A= (p.Lys1538=) c.4504A= (p.Lys1502=) n.124A= c.4537A= (p.Lys1513=) c.4609A= (p.Lys1537=) | |
| 3 | g.38554427C>A | CA352143889 | SCN5A | c.4662G>T (p.Glu1554Asp) c.4665G>T (p.Glu1555Asp) c.4611G>T (p.Glu1537Asp) c.4503G>T (p.Glu1501Asp) n.123G>T c.4536G>T (p.Glu1512Asp) c.4608G>T (p.Glu1536Asp) | |
| 3 | g.38554427C= | CA1358563337 | SCN5A | c.4662G= (p.Glu1554=) c.4665G= (p.Glu1555=) c.4611G= (p.Glu1537=) c.4503G= (p.Glu1501=) n.123G= c.4536G= (p.Glu1512=) c.4608G= (p.Glu1536=) | |
| 3 | g.38554427C>G | CA352143890 | SCN5A | c.4662G>C (p.Glu1554Asp) c.4665G>C (p.Glu1555Asp) c.4611G>C (p.Glu1537Asp) c.4503G>C (p.Glu1501Asp) n.123G>C c.4536G>C (p.Glu1512Asp) c.4608G>C (p.Glu1536Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554427C>T | CA433134691 | SCN5A | c.4662G>A (p.Glu1554=) c.4665G>A (p.Glu1555=) c.4611G>A (p.Glu1537=) c.4503G>A (p.Glu1501=) n.123G>A c.4536G>A (p.Glu1512=) c.4608G>A (p.Glu1536=) | |
| 3 | g.38554428T>A | CA352143891 | SCN5A | c.4661A>T (p.Glu1554Val) c.4664A>T (p.Glu1555Val) c.4610A>T (p.Glu1537Val) c.4502A>T (p.Glu1501Val) n.122A>T c.4535A>T (p.Glu1512Val) c.4607A>T (p.Glu1536Val) | |
| 3 | g.38554428T>C | CA352143892 | SCN5A | c.4661A>G (p.Glu1554Gly) c.4664A>G (p.Glu1555Gly) c.4610A>G (p.Glu1537Gly) c.4502A>G (p.Glu1501Gly) n.122A>G c.4535A>G (p.Glu1512Gly) c.4607A>G (p.Glu1536Gly) | |
| 3 | g.38554428T>G | CA352143893 | SCN5A | c.4661A>C (p.Glu1554Ala) c.4664A>C (p.Glu1555Ala) c.4610A>C (p.Glu1537Ala) c.4502A>C (p.Glu1501Ala) n.122A>C c.4535A>C (p.Glu1512Ala) c.4607A>C (p.Glu1536Ala) | |
| 3 | g.38554429C>A | CA352143895 | SCN5A | c.4660G>T (p.Glu1554Ter) c.4663G>T (p.Glu1555Ter) c.4609G>T (p.Glu1537Ter) c.4501G>T (p.Glu1501Ter) n.121G>T c.4534G>T (p.Glu1512Ter) c.4606G>T (p.Glu1536Ter) | dbSNP |
| 3 | g.38554429C= | CA1358563341 | SCN5A | c.4660G= (p.Glu1554=) c.4663G= (p.Glu1555=) c.4609G= (p.Glu1537=) c.4501G= (p.Glu1501=) n.121G= c.4534G= (p.Glu1512=) c.4606G= (p.Glu1536=) | |
| 3 | g.38554429C>G | CA352143894 | SCN5A | c.4660G>C (p.Glu1554Gln) c.4663G>C (p.Glu1555Gln) c.4609G>C (p.Glu1537Gln) c.4501G>C (p.Glu1501Gln) n.121G>C c.4534G>C (p.Glu1512Gln) c.4606G>C (p.Glu1536Gln) | |
| 3 | g.38554429C>T | CA063500 | SCN5A | c.4660G>A (p.Glu1554Lys) c.4663G>A (p.Glu1555Lys) c.4609G>A (p.Glu1537Lys) c.4501G>A (p.Glu1501Lys) n.121G>A c.4534G>A (p.Glu1512Lys) c.4606G>A (p.Glu1536Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554430del | CA2665110384 | SCN5A | c.4659del (p.Glu1554ArgfsTer?) c.4662del (p.Glu1555ArgfsTer?) c.4608del (p.Glu1537ArgfsTer?) c.4500del (p.Glu1501ArgfsTer?) n.120del c.4533del (p.Glu1512ArgfsTer?) c.4605del (p.Glu1536ArgfsTer?) | gnomAD v4 |
| 3 | g.38554430A= | CA1358563345 | SCN5A | c.4659T= (p.Pro1553=) c.4662T= (p.Pro1554=) c.4608T= (p.Pro1536=) c.4500T= (p.Pro1500=) n.120T= c.4533T= (p.Pro1511=) c.4605T= (p.Pro1535=) | |
| 3 | g.38554430A>C | CA063491 | SCN5A | c.4659T>G (p.Pro1553=) c.4662T>G (p.Pro1554=) c.4608T>G (p.Pro1536=) c.4500T>G (p.Pro1500=) n.120T>G c.4533T>G (p.Pro1511=) c.4605T>G (p.Pro1535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554430A>G | CA433134699 | SCN5A | c.4659T>C (p.Pro1553=) c.4662T>C (p.Pro1554=) c.4608T>C (p.Pro1536=) c.4500T>C (p.Pro1500=) n.120T>C c.4533T>C (p.Pro1511=) c.4605T>C (p.Pro1535=) | dbSNP |
| 3 | g.38554430A>T | CA433134700 | SCN5A | c.4659T>A (p.Pro1553=) c.4662T>A (p.Pro1554=) c.4608T>A (p.Pro1536=) c.4500T>A (p.Pro1500=) n.120T>A c.4533T>A (p.Pro1511=) c.4605T>A (p.Pro1535=) | |
| 3 | g.38554431G>A | CA352143898 | SCN5A | c.4658C>T (p.Pro1553Leu) c.4661C>T (p.Pro1554Leu) c.4607C>T (p.Pro1536Leu) c.4499C>T (p.Pro1500Leu) n.119C>T c.4532C>T (p.Pro1511Leu) c.4604C>T (p.Pro1535Leu) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38554431G>C | CA352143896 | SCN5A | c.4658C>G (p.Pro1553Arg) c.4661C>G (p.Pro1554Arg) c.4607C>G (p.Pro1536Arg) c.4499C>G (p.Pro1500Arg) n.119C>G c.4532C>G (p.Pro1511Arg) c.4604C>G (p.Pro1535Arg) | |
| 3 | g.38554431G>T | CA352143897 | SCN5A | c.4658C>A (p.Pro1553His) c.4661C>A (p.Pro1554His) c.4607C>A (p.Pro1536His) c.4499C>A (p.Pro1500His) n.119C>A c.4532C>A (p.Pro1511His) c.4604C>A (p.Pro1535His) | |
| 3 | g.38554432G>A | CA352143899 | SCN5A | c.4657C>T (p.Pro1553Ser) c.4660C>T (p.Pro1554Ser) c.4606C>T (p.Pro1536Ser) c.4498C>T (p.Pro1500Ser) n.118C>T c.4531C>T (p.Pro1511Ser) c.4603C>T (p.Pro1535Ser) | |
| 3 | g.38554432G>C | CA352143900 | SCN5A | c.4657C>G (p.Pro1553Ala) c.4660C>G (p.Pro1554Ala) c.4606C>G (p.Pro1536Ala) c.4498C>G (p.Pro1500Ala) n.118C>G c.4531C>G (p.Pro1511Ala) c.4603C>G (p.Pro1535Ala) | |
| 3 | g.38554432G>T | CA352143901 | SCN5A | c.4657C>A (p.Pro1553Thr) c.4660C>A (p.Pro1554Thr) c.4606C>A (p.Pro1536Thr) c.4498C>A (p.Pro1500Thr) n.118C>A c.4531C>A (p.Pro1511Thr) c.4603C>A (p.Pro1535Thr) | |
| 3 | g.38554433A>C | CA352143902 | SCN5A | c.4656T>G (p.Ser1552Arg) c.4659T>G (p.Ser1553Arg) c.4605T>G (p.Ser1535Arg) c.4497T>G (p.Ser1499Arg) n.117T>G c.4530T>G (p.Ser1510Arg) c.4602T>G (p.Ser1534Arg) | |
| 3 | g.38554433A>G | CA433134706 | SCN5A | c.4656T>C (p.Ser1552=) c.4659T>C (p.Ser1553=) c.4605T>C (p.Ser1535=) c.4497T>C (p.Ser1499=) n.117T>C c.4530T>C (p.Ser1510=) c.4602T>C (p.Ser1534=) | |
| 3 | g.38554433A>T | CA352143903 | SCN5A | c.4656T>A (p.Ser1552Arg) c.4659T>A (p.Ser1553Arg) c.4605T>A (p.Ser1535Arg) c.4497T>A (p.Ser1499Arg) n.117T>A c.4530T>A (p.Ser1510Arg) c.4602T>A (p.Ser1534Arg) | ClinVar |
| 3 | g.38554434C>A | CA352143904 | SCN5A | c.4655G>T (p.Ser1552Ile) c.4658G>T (p.Ser1553Ile) c.4604G>T (p.Ser1535Ile) c.4496G>T (p.Ser1499Ile) n.116G>T c.4529G>T (p.Ser1510Ile) c.4601G>T (p.Ser1534Ile) | |
| 3 | g.38554434C= | CA1358563351 | SCN5A | c.4655G= (p.Ser1552=) c.4658G= (p.Ser1553=) c.4604G= (p.Ser1535=) c.4496G= (p.Ser1499=) n.116G= c.4529G= (p.Ser1510=) c.4601G= (p.Ser1534=) | |
| 3 | g.38554434C>G | CA352143905 | SCN5A | c.4655G>C (p.Ser1552Thr) c.4658G>C (p.Ser1553Thr) c.4604G>C (p.Ser1535Thr) c.4496G>C (p.Ser1499Thr) n.116G>C c.4529G>C (p.Ser1510Thr) c.4601G>C (p.Ser1534Thr) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38554434C>T | CA352143906 | SCN5A | c.4655G>A (p.Ser1552Asn) c.4658G>A (p.Ser1553Asn) c.4604G>A (p.Ser1535Asn) c.4496G>A (p.Ser1499Asn) n.116G>A c.4529G>A (p.Ser1510Asn) c.4601G>A (p.Ser1534Asn) | |
| 3 | g.38554434_38554435delinsCT | CA1358563350 | SCN5A | c.4654_4655delinsAG (p.Ser1552=) c.4657_4658delinsAG (p.Ser1553=) c.4603_4604delinsAG (p.Ser1535=) c.4495_4496delinsAG (p.Ser1499=) n.115_116delinsAG c.4528_4529delinsAG (p.Ser1510=) c.4600_4601delinsAG (p.Ser1534=) | |
| 3 | g.38554435T>A | CA352143907 | SCN5A | c.4654A>T (p.Ser1552Cys) c.4657A>T (p.Ser1553Cys) c.4603A>T (p.Ser1535Cys) c.4495A>T (p.Ser1499Cys) n.115A>T c.4528A>T (p.Ser1510Cys) c.4600A>T (p.Ser1534Cys) | |
| 3 | g.38554435T>C | CA352143908 | SCN5A | c.4654A>G (p.Ser1552Gly) c.4657A>G (p.Ser1553Gly) c.4603A>G (p.Ser1535Gly) c.4495A>G (p.Ser1499Gly) n.115A>G c.4528A>G (p.Ser1510Gly) c.4600A>G (p.Ser1534Gly) | |
| 3 | g.38554435T>G | CA018469 | SCN5A | c.4654A>C (p.Ser1552Arg) c.4657A>C (p.Ser1553Arg) c.4603A>C (p.Ser1535Arg) c.4495A>C (p.Ser1499Arg) n.115A>C c.4528A>C (p.Ser1510Arg) c.4600A>C (p.Ser1534Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554435T= | CA1358563362 | SCN5A | c.4654A= (p.Ser1552=) c.4657A= (p.Ser1553=) c.4603A= (p.Ser1535=) c.4495A= (p.Ser1499=) n.115A= c.4528A= (p.Ser1510=) c.4600A= (p.Ser1534=) | |
| 3 | g.38554437del | CA891843410 | SCN5A | c.4654del (p.Ser1552ValfsTer?) c.4657del (p.Ser1553ValfsTer?) c.4603del (p.Ser1535ValfsTer?) c.4495del (p.Ser1499ValfsTer?) n.115del c.4528del (p.Ser1510ValfsTer?) c.4600del (p.Ser1534ValfsTer?) | ClinVar dbSNP |
| 3 | g.38554436T>A | CA352143909 | SCN5A | c.4653A>T (p.Gln1551His) c.4656A>T (p.Gln1552His) c.4602A>T (p.Gln1534His) c.4494A>T (p.Gln1498His) n.114A>T c.4527A>T (p.Gln1509His) c.4599A>T (p.Gln1533His) | |
| 3 | g.38554436T>C | CA433134713 | SCN5A | c.4653A>G (p.Gln1551=) c.4656A>G (p.Gln1552=) c.4602A>G (p.Gln1534=) c.4494A>G (p.Gln1498=) n.114A>G c.4527A>G (p.Gln1509=) c.4599A>G (p.Gln1533=) | |
| 3 | g.38554436T>G | CA352143910 | SCN5A | c.4653A>C (p.Gln1551His) c.4656A>C (p.Gln1552His) c.4602A>C (p.Gln1534His) c.4494A>C (p.Gln1498His) n.114A>C c.4527A>C (p.Gln1509His) c.4599A>C (p.Gln1533His) | |
| 3 | g.38554437T>A | CA352143911 | SCN5A | c.4652A>T (p.Gln1551Leu) c.4655A>T (p.Gln1552Leu) c.4601A>T (p.Gln1534Leu) c.4493A>T (p.Gln1498Leu) n.113A>T c.4526A>T (p.Gln1509Leu) c.4598A>T (p.Gln1533Leu) | dbSNP gnomAD v2 |
| 3 | g.38554437T>C | CA352143912 | SCN5A | c.4652A>G (p.Gln1551Arg) c.4655A>G (p.Gln1552Arg) c.4601A>G (p.Gln1534Arg) c.4493A>G (p.Gln1498Arg) n.113A>G c.4526A>G (p.Gln1509Arg) c.4598A>G (p.Gln1533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554437T>G | CA352143913 | SCN5A | c.4652A>C (p.Gln1551Pro) c.4655A>C (p.Gln1552Pro) c.4601A>C (p.Gln1534Pro) c.4493A>C (p.Gln1498Pro) n.113A>C c.4526A>C (p.Gln1509Pro) c.4598A>C (p.Gln1533Pro) | |
| 3 | g.38554437T= | CA1358563365 | SCN5A | c.4652A= (p.Gln1551=) c.4655A= (p.Gln1552=) c.4601A= (p.Gln1534=) c.4493A= (p.Gln1498=) n.113A= c.4526A= (p.Gln1509=) c.4598A= (p.Gln1533=) | |
| 3 | g.38554438G>A | CA352143914 | SCN5A | c.4651C>T (p.Gln1551Ter) c.4654C>T (p.Gln1552Ter) c.4600C>T (p.Gln1534Ter) c.4492C>T (p.Gln1498Ter) n.112C>T c.4525C>T (p.Gln1509Ter) c.4597C>T (p.Gln1533Ter) | |
| 3 | g.38554438G>C | CA352143915 | SCN5A | c.4651C>G (p.Gln1551Glu) c.4654C>G (p.Gln1552Glu) c.4600C>G (p.Gln1534Glu) c.4492C>G (p.Gln1498Glu) n.112C>G c.4525C>G (p.Gln1509Glu) c.4597C>G (p.Gln1533Glu) | |
| 3 | g.38554438G>T | CA352143916 | SCN5A | c.4651C>A (p.Gln1551Lys) c.4654C>A (p.Gln1552Lys) c.4600C>A (p.Gln1534Lys) c.4492C>A (p.Gln1498Lys) n.112C>A c.4525C>A (p.Gln1509Lys) c.4597C>A (p.Gln1533Lys) | |
| 3 | g.38554439G>A | CA433134718 | SCN5A | c.4650C>T (p.Asp1550=) c.4653C>T (p.Asp1551=) c.4599C>T (p.Asp1533=) c.4491C>T (p.Asp1497=) n.111C>T c.4524C>T (p.Asp1508=) c.4596C>T (p.Asp1532=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554439G>C | CA352143917 | SCN5A | c.4650C>G (p.Asp1550Glu) c.4653C>G (p.Asp1551Glu) c.4599C>G (p.Asp1533Glu) c.4491C>G (p.Asp1497Glu) n.111C>G c.4524C>G (p.Asp1508Glu) c.4596C>G (p.Asp1532Glu) | |
| 3 | g.38554439G= | CA1358563376 | SCN5A | c.4650C= (p.Asp1550=) c.4653C= (p.Asp1551=) c.4599C= (p.Asp1533=) c.4491C= (p.Asp1497=) n.111C= c.4524C= (p.Asp1508=) c.4596C= (p.Asp1532=) | |
| 3 | g.38554439G>T | CA352143918 | SCN5A | c.4650C>A (p.Asp1550Glu) c.4653C>A (p.Asp1551Glu) c.4599C>A (p.Asp1533Glu) c.4491C>A (p.Asp1497Glu) n.111C>A c.4524C>A (p.Asp1508Glu) c.4596C>A (p.Asp1532Glu) | |
| 3 | g.38554440T>A | CA352143919 | SCN5A | c.4649A>T (p.Asp1550Val) c.4652A>T (p.Asp1551Val) c.4598A>T (p.Asp1533Val) c.4490A>T (p.Asp1497Val) n.110A>T c.4523A>T (p.Asp1508Val) c.4595A>T (p.Asp1532Val) | |
| 3 | g.38554440T>C | CA352143920 | SCN5A | c.4649A>G (p.Asp1550Gly) c.4652A>G (p.Asp1551Gly) c.4598A>G (p.Asp1533Gly) c.4490A>G (p.Asp1497Gly) n.110A>G c.4523A>G (p.Asp1508Gly) c.4595A>G (p.Asp1532Gly) | |
| 3 | g.38554440T>G | CA352143921 | SCN5A | c.4649A>C (p.Asp1550Ala) c.4652A>C (p.Asp1551Ala) c.4598A>C (p.Asp1533Ala) c.4490A>C (p.Asp1497Ala) n.110A>C c.4523A>C (p.Asp1508Ala) c.4595A>C (p.Asp1532Ala) | |
| 3 | g.38554441C>A | CA352143922 | SCN5A | c.4648G>T (p.Asp1550Tyr) c.4651G>T (p.Asp1551Tyr) c.4597G>T (p.Asp1533Tyr) c.4489G>T (p.Asp1497Tyr) n.109G>T c.4522G>T (p.Asp1508Tyr) c.4594G>T (p.Asp1532Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38554441C= | CA1358563380 | SCN5A | c.4648G= (p.Asp1550=) c.4651G= (p.Asp1551=) c.4597G= (p.Asp1533=) c.4489G= (p.Asp1497=) n.109G= c.4522G= (p.Asp1508=) c.4594G= (p.Asp1532=) | |
| 3 | g.38554441C>G | CA352143923 | SCN5A | c.4648G>C (p.Asp1550His) c.4651G>C (p.Asp1551His) c.4597G>C (p.Asp1533His) c.4489G>C (p.Asp1497His) n.109G>C c.4522G>C (p.Asp1508His) c.4594G>C (p.Asp1532His) | |
| 3 | g.38554441C>T | CA063486 | SCN5A | c.4648G>A (p.Asp1550Asn) c.4651G>A (p.Asp1551Asn) c.4597G>A (p.Asp1533Asn) c.4489G>A (p.Asp1497Asn) n.109G>A c.4522G>A (p.Asp1508Asn) c.4594G>A (p.Asp1532Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38554442A>C | CA352143924 | SCN5A | c.4647T>G (p.Asp1549Glu) c.4650T>G (p.Asp1550Glu) c.4596T>G (p.Asp1532Glu) c.4488T>G (p.Asp1496Glu) n.108T>G c.4521T>G (p.Asp1507Glu) c.4593T>G (p.Asp1531Glu) | |
| 3 | g.38554442A>G | CA433134725 | SCN5A | c.4647T>C (p.Asp1549=) c.4650T>C (p.Asp1550=) c.4596T>C (p.Asp1532=) c.4488T>C (p.Asp1496=) n.108T>C c.4521T>C (p.Asp1507=) c.4593T>C (p.Asp1531=) | |
| 3 | g.38554442A>T | CA352143925 | SCN5A | c.4647T>A (p.Asp1549Glu) c.4650T>A (p.Asp1550Glu) c.4596T>A (p.Asp1532Glu) c.4488T>A (p.Asp1496Glu) n.108T>A c.4521T>A (p.Asp1507Glu) c.4593T>A (p.Asp1531Glu) | |
| 3 | g.38554443T>A | CA352143926 | SCN5A | c.4646A>T (p.Asp1549Val) c.4649A>T (p.Asp1550Val) c.4595A>T (p.Asp1532Val) c.4487A>T (p.Asp1496Val) n.107A>T c.4520A>T (p.Asp1507Val) c.4592A>T (p.Asp1531Val) | |
| 3 | g.38554443T>C | CA352143927 | SCN5A | c.4646A>G (p.Asp1549Gly) c.4649A>G (p.Asp1550Gly) c.4595A>G (p.Asp1532Gly) c.4487A>G (p.Asp1496Gly) n.107A>G c.4520A>G (p.Asp1507Gly) c.4592A>G (p.Asp1531Gly) | |
| 3 | g.38554443T>G | CA352143928 | SCN5A | c.4646A>C (p.Asp1549Ala) c.4649A>C (p.Asp1550Ala) c.4595A>C (p.Asp1532Ala) c.4487A>C (p.Asp1496Ala) n.107A>C c.4520A>C (p.Asp1507Ala) c.4592A>C (p.Asp1531Ala) | |
| 3 | g.38554444C>A | CA352143929 | SCN5A | c.4645G>T (p.Asp1549Tyr) c.4648G>T (p.Asp1550Tyr) c.4594G>T (p.Asp1532Tyr) c.4486G>T (p.Asp1496Tyr) n.106G>T c.4519G>T (p.Asp1507Tyr) c.4591G>T (p.Asp1531Tyr) | |
| 3 | g.38554444C>G | CA352143930 | SCN5A | c.4645G>C (p.Asp1549His) c.4648G>C (p.Asp1550His) c.4594G>C (p.Asp1532His) c.4486G>C (p.Asp1496His) n.106G>C c.4519G>C (p.Asp1507His) c.4591G>C (p.Asp1531His) | |
| 3 | g.38554444C>T | CA352143931 | SCN5A | c.4645G>A (p.Asp1549Asn) c.4648G>A (p.Asp1550Asn) c.4594G>A (p.Asp1532Asn) c.4486G>A (p.Asp1496Asn) n.106G>A c.4519G>A (p.Asp1507Asn) c.4591G>A (p.Asp1531Asn) | |
| 3 | g.38554445T>A | CA433134730 | SCN5A | c.4644A>T (p.Thr1548=) c.4647A>T (p.Thr1549=) c.4593A>T (p.Thr1531=) c.4485A>T (p.Thr1495=) n.105A>T c.4518A>T (p.Thr1506=) c.4590A>T (p.Thr1530=) | |
| 3 | g.38554445T>C | CA433134732 | SCN5A | c.4644A>G (p.Thr1548=) c.4647A>G (p.Thr1549=) c.4593A>G (p.Thr1531=) c.4485A>G (p.Thr1495=) n.105A>G c.4518A>G (p.Thr1506=) c.4590A>G (p.Thr1530=) | |
| 3 | g.38554445T>G | CA433134734 | SCN5A | c.4644A>C (p.Thr1548=) c.4647A>C (p.Thr1549=) c.4593A>C (p.Thr1531=) c.4485A>C (p.Thr1495=) n.105A>C c.4518A>C (p.Thr1506=) c.4590A>C (p.Thr1530=) | gnomAD v4 |
| 3 | g.38554446G>A | CA352143932 | SCN5A | c.4643C>T (p.Thr1548Ile) c.4646C>T (p.Thr1549Ile) c.4592C>T (p.Thr1531Ile) c.4484C>T (p.Thr1495Ile) n.104C>T c.4517C>T (p.Thr1506Ile) c.4589C>T (p.Thr1530Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38554446G>C | CA352143933 | SCN5A | c.4643C>G (p.Thr1548Arg) c.4646C>G (p.Thr1549Arg) c.4592C>G (p.Thr1531Arg) c.4484C>G (p.Thr1495Arg) n.104C>G c.4517C>G (p.Thr1506Arg) c.4589C>G (p.Thr1530Arg) | gnomAD v4 |
| 3 | g.38554446G= | CA1358563383 | SCN5A | c.4643C= (p.Thr1548=) c.4646C= (p.Thr1549=) c.4592C= (p.Thr1531=) c.4484C= (p.Thr1495=) n.104C= c.4517C= (p.Thr1506=) c.4589C= (p.Thr1530=) | |
| 3 | g.38554446G>T | CA352143934 | SCN5A | c.4643C>A (p.Thr1548Lys) c.4646C>A (p.Thr1549Lys) c.4592C>A (p.Thr1531Lys) c.4484C>A (p.Thr1495Lys) n.104C>A c.4517C>A (p.Thr1506Lys) c.4589C>A (p.Thr1530Lys) | |
| 3 | g.38554447T>A | CA352143935 | SCN5A | c.4642A>T (p.Thr1548Ser) c.4645A>T (p.Thr1549Ser) c.4591A>T (p.Thr1531Ser) c.4483A>T (p.Thr1495Ser) n.103A>T c.4516A>T (p.Thr1506Ser) c.4588A>T (p.Thr1530Ser) | |
| 3 | g.38554447T>C | CA352143936 | SCN5A | c.4642A>G (p.Thr1548Ala) c.4645A>G (p.Thr1549Ala) c.4591A>G (p.Thr1531Ala) c.4483A>G (p.Thr1495Ala) n.103A>G c.4516A>G (p.Thr1506Ala) c.4588A>G (p.Thr1530Ala) | ClinVar dbSNP |
| 3 | g.38554447T>G | CA352143937 | SCN5A | c.4642A>C (p.Thr1548Pro) c.4645A>C (p.Thr1549Pro) c.4591A>C (p.Thr1531Pro) c.4483A>C (p.Thr1495Pro) n.103A>C c.4516A>C (p.Thr1506Pro) c.4588A>C (p.Thr1530Pro) | |
| 3 | g.38554447T= | CA1358563385 | SCN5A | c.4642A= (p.Thr1548=) c.4645A= (p.Thr1549=) c.4591A= (p.Thr1531=) c.4483A= (p.Thr1495=) n.103A= c.4516A= (p.Thr1506=) c.4588A= (p.Thr1530=) | |
| 3 | g.38554448C>A | CA352143938 | SCN5A | c.4641G>T (p.Glu1547Asp) c.4644G>T (p.Glu1548Asp) c.4590G>T (p.Glu1530Asp) c.4482G>T (p.Glu1494Asp) n.102G>T c.4515G>T (p.Glu1505Asp) c.4587G>T (p.Glu1529Asp) | |
| 3 | g.38554448C= | CA1358563389 | SCN5A | c.4641G= (p.Glu1547=) c.4644G= (p.Glu1548=) c.4590G= (p.Glu1530=) c.4482G= (p.Glu1494=) n.102G= c.4515G= (p.Glu1505=) c.4587G= (p.Glu1529=) | |
| 3 | g.38554448C>G | CA352143939 | SCN5A | c.4641G>C (p.Glu1547Asp) c.4644G>C (p.Glu1548Asp) c.4590G>C (p.Glu1530Asp) c.4482G>C (p.Glu1494Asp) n.102G>C c.4515G>C (p.Glu1505Asp) c.4587G>C (p.Glu1529Asp) | ClinVar dbSNP |
| 3 | g.38554448C>T | CA433134740 | SCN5A | c.4641G>A (p.Glu1547=) c.4644G>A (p.Glu1548=) c.4590G>A (p.Glu1530=) c.4482G>A (p.Glu1494=) n.102G>A c.4515G>A (p.Glu1505=) c.4587G>A (p.Glu1529=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38554449T>A | CA352143940 | SCN5A | c.4640A>T (p.Glu1547Val) c.4643A>T (p.Glu1548Val) c.4589A>T (p.Glu1530Val) c.4481A>T (p.Glu1494Val) n.101A>T c.4514A>T (p.Glu1505Val) c.4586A>T (p.Glu1529Val) | |
| 3 | g.38554449T>C | CA352143941 | SCN5A | c.4640A>G (p.Glu1547Gly) c.4643A>G (p.Glu1548Gly) c.4589A>G (p.Glu1530Gly) c.4481A>G (p.Glu1494Gly) n.101A>G c.4514A>G (p.Glu1505Gly) c.4586A>G (p.Glu1529Gly) | ClinVar dbSNP |
| 3 | g.38554449T>G | CA352143942 | SCN5A | c.4640A>C (p.Glu1547Ala) c.4643A>C (p.Glu1548Ala) c.4589A>C (p.Glu1530Ala) c.4481A>C (p.Glu1494Ala) n.101A>C c.4514A>C (p.Glu1505Ala) c.4586A>C (p.Glu1529Ala) | |
| 3 | g.38554450C>A | CA352143943 | SCN5A | c.4639G>T (p.Glu1547Ter) c.4642G>T (p.Glu1548Ter) c.4588G>T (p.Glu1530Ter) c.4480G>T (p.Glu1494Ter) n.100G>T c.4513G>T (p.Glu1505Ter) c.4585G>T (p.Glu1529Ter) | dbSNP |
| 3 | g.38554450C= | CA1358563392 | SCN5A | c.4639G= (p.Glu1547=) c.4642G= (p.Glu1548=) c.4588G= (p.Glu1530=) c.4480G= (p.Glu1494=) n.100G= c.4513G= (p.Glu1505=) c.4585G= (p.Glu1529=) | |
| 3 | g.38554450C>G | CA352143944 | SCN5A | c.4639G>C (p.Glu1547Gln) c.4642G>C (p.Glu1548Gln) c.4588G>C (p.Glu1530Gln) c.4480G>C (p.Glu1494Gln) n.100G>C c.4513G>C (p.Glu1505Gln) c.4585G>C (p.Glu1529Gln) | |
| 3 | g.38554450C>T | CA018462 | SCN5A | c.4639G>A (p.Glu1547Lys) c.4642G>A (p.Glu1548Lys) c.4588G>A (p.Glu1530Lys) c.4480G>A (p.Glu1494Lys) n.100G>A c.4513G>A (p.Glu1505Lys) c.4585G>A (p.Glu1529Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |