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.38550755T>A | CA352140616 | SCN5A | c.5614A>T (p.Ile1872Phe) c.5617A>T (p.Ile1873Phe) c.5563A>T (p.Ile1855Phe) c.5455A>T (p.Ile1819Phe) c.5518A>T (p.Ile1840Phe) c.5488A>T (p.Ile1830Phe) c.5560A>T (p.Ile1854Phe) | |
| 3 | g.38550755T>C | CA064566 | SCN5A | c.5614A>G (p.Ile1872Val) c.5617A>G (p.Ile1873Val) c.5563A>G (p.Ile1855Val) c.5455A>G (p.Ile1819Val) c.5518A>G (p.Ile1840Val) c.5488A>G (p.Ile1830Val) c.5560A>G (p.Ile1854Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550755T>G | CA352140618 | SCN5A | c.5614A>C (p.Ile1872Leu) c.5617A>C (p.Ile1873Leu) c.5563A>C (p.Ile1855Leu) c.5455A>C (p.Ile1819Leu) c.5518A>C (p.Ile1840Leu) c.5488A>C (p.Ile1830Leu) c.5560A>C (p.Ile1854Leu) | |
| 3 | g.38550755T= | CA1358556537 | SCN5A | c.5614A= (p.Ile1872=) c.5617A= (p.Ile1873=) c.5563A= (p.Ile1855=) c.5455A= (p.Ile1819=) c.5518A= (p.Ile1840=) c.5488A= (p.Ile1830=) c.5560A= (p.Ile1854=) | |
| 3 | g.38550756C>A | CA352140620 | SCN5A | c.5613G>T (p.Lys1871Asn) c.5616G>T (p.Lys1872Asn) c.5562G>T (p.Lys1854Asn) c.5454G>T (p.Lys1818Asn) c.5517G>T (p.Lys1839Asn) c.5487G>T (p.Lys1829Asn) c.5559G>T (p.Lys1853Asn) | |
| 3 | g.38550756C= | CA1358556541 | SCN5A | c.5613G= (p.Lys1871=) c.5616G= (p.Lys1872=) c.5562G= (p.Lys1854=) c.5454G= (p.Lys1818=) c.5517G= (p.Lys1839=) c.5487G= (p.Lys1829=) c.5559G= (p.Lys1853=) | |
| 3 | g.38550756C>G | CA019389 | SCN5A | c.5613G>C (p.Lys1871Asn) c.5616G>C (p.Lys1872Asn) c.5562G>C (p.Lys1854Asn) c.5454G>C (p.Lys1818Asn) c.5517G>C (p.Lys1839Asn) c.5487G>C (p.Lys1829Asn) c.5559G>C (p.Lys1853Asn) | ClinVar dbSNP |
| 3 | g.38550756C>T | CA433331832 | SCN5A | c.5613G>A (p.Lys1871=) c.5616G>A (p.Lys1872=) c.5562G>A (p.Lys1854=) c.5454G>A (p.Lys1818=) c.5517G>A (p.Lys1839=) c.5487G>A (p.Lys1829=) c.5559G>A (p.Lys1853=) | |
| 3 | g.38550757T>A | CA352140621 | SCN5A | c.5612A>T (p.Lys1871Met) c.5615A>T (p.Lys1872Met) c.5561A>T (p.Lys1854Met) c.5453A>T (p.Lys1818Met) c.5516A>T (p.Lys1839Met) c.5486A>T (p.Lys1829Met) c.5558A>T (p.Lys1853Met) | |
| 3 | g.38550757T>C | CA352140626 | SCN5A | c.5612A>G (p.Lys1871Arg) c.5615A>G (p.Lys1872Arg) c.5561A>G (p.Lys1854Arg) c.5453A>G (p.Lys1818Arg) c.5516A>G (p.Lys1839Arg) c.5486A>G (p.Lys1829Arg) c.5558A>G (p.Lys1853Arg) | COSMIC COSMIC COSMIC |
| 3 | g.38550757T>G | CA352140623 | SCN5A | c.5612A>C (p.Lys1871Thr) c.5615A>C (p.Lys1872Thr) c.5561A>C (p.Lys1854Thr) c.5453A>C (p.Lys1818Thr) c.5516A>C (p.Lys1839Thr) c.5486A>C (p.Lys1829Thr) c.5558A>C (p.Lys1853Thr) | |
| 3 | g.38550758T>A | CA352140628 | SCN5A | c.5611A>T (p.Lys1871Ter) c.5614A>T (p.Lys1872Ter) c.5560A>T (p.Lys1854Ter) c.5452A>T (p.Lys1818Ter) c.5515A>T (p.Lys1839Ter) c.5485A>T (p.Lys1829Ter) c.5557A>T (p.Lys1853Ter) | dbSNP |
| 3 | g.38550758T>C | CA352140630 | SCN5A | c.5611A>G (p.Lys1871Glu) c.5614A>G (p.Lys1872Glu) c.5560A>G (p.Lys1854Glu) c.5452A>G (p.Lys1818Glu) c.5515A>G (p.Lys1839Glu) c.5485A>G (p.Lys1829Glu) c.5557A>G (p.Lys1853Glu) | |
| 3 | g.38550758T>G | CA352140632 | SCN5A | c.5611A>C (p.Lys1871Gln) c.5614A>C (p.Lys1872Gln) c.5560A>C (p.Lys1854Gln) c.5452A>C (p.Lys1818Gln) c.5515A>C (p.Lys1839Gln) c.5485A>C (p.Lys1829Gln) c.5557A>C (p.Lys1853Gln) | |
| 3 | g.38550758T= | CA1358556548 | SCN5A | c.5611A= (p.Lys1871=) c.5614A= (p.Lys1872=) c.5560A= (p.Lys1854=) c.5452A= (p.Lys1818=) c.5515A= (p.Lys1839=) c.5485A= (p.Lys1829=) c.5557A= (p.Lys1853=) | |
| 3 | g.38550759C>A | CA433331842 | SCN5A | c.5610G>T (p.Leu1870=) c.5613G>T (p.Leu1871=) c.5559G>T (p.Leu1853=) c.5451G>T (p.Leu1817=) c.5514G>T (p.Leu1838=) c.5484G>T (p.Leu1828=) c.5556G>T (p.Leu1852=) | |
| 3 | g.38550759C>G | CA433331844 | SCN5A | c.5610G>C (p.Leu1870=) c.5613G>C (p.Leu1871=) c.5559G>C (p.Leu1853=) c.5451G>C (p.Leu1817=) c.5514G>C (p.Leu1838=) c.5484G>C (p.Leu1828=) c.5556G>C (p.Leu1852=) | |
| 3 | g.38550759C>T | CA433331845 | SCN5A | c.5610G>A (p.Leu1870=) c.5613G>A (p.Leu1871=) c.5559G>A (p.Leu1853=) c.5451G>A (p.Leu1817=) c.5514G>A (p.Leu1838=) c.5484G>A (p.Leu1828=) c.5556G>A (p.Leu1852=) | COSMIC COSMIC COSMIC |
| 3 | g.38550760A>C | CA352140634 | SCN5A | c.5609T>G (p.Leu1870Arg) c.5612T>G (p.Leu1871Arg) c.5558T>G (p.Leu1853Arg) c.5450T>G (p.Leu1817Arg) c.5513T>G (p.Leu1838Arg) c.5483T>G (p.Leu1828Arg) c.5555T>G (p.Leu1852Arg) | |
| 3 | g.38550760A>G | CA352140636 | SCN5A | c.5609T>C (p.Leu1870Pro) c.5612T>C (p.Leu1871Pro) c.5558T>C (p.Leu1853Pro) c.5450T>C (p.Leu1817Pro) c.5513T>C (p.Leu1838Pro) c.5483T>C (p.Leu1828Pro) c.5555T>C (p.Leu1852Pro) | |
| 3 | g.38550760A>T | CA352140638 | SCN5A | c.5609T>A (p.Leu1870Gln) c.5612T>A (p.Leu1871Gln) c.5558T>A (p.Leu1853Gln) c.5450T>A (p.Leu1817Gln) c.5513T>A (p.Leu1838Gln) c.5483T>A (p.Leu1828Gln) c.5555T>A (p.Leu1852Gln) | |
| 3 | g.38550761G>A | CA433331850 | SCN5A | c.5608C>T (p.Leu1870=) c.5611C>T (p.Leu1871=) c.5557C>T (p.Leu1853=) c.5449C>T (p.Leu1817=) c.5512C>T (p.Leu1838=) c.5482C>T (p.Leu1828=) c.5554C>T (p.Leu1852=) | |
| 3 | g.38550761G>C | CA352140640 | SCN5A | c.5608C>G (p.Leu1870Val) c.5611C>G (p.Leu1871Val) c.5557C>G (p.Leu1853Val) c.5449C>G (p.Leu1817Val) c.5512C>G (p.Leu1838Val) c.5482C>G (p.Leu1828Val) c.5554C>G (p.Leu1852Val) | |
| 3 | g.38550761G>T | CA352140642 | SCN5A | c.5608C>A (p.Leu1870Met) c.5611C>A (p.Leu1871Met) c.5557C>A (p.Leu1853Met) c.5449C>A (p.Leu1817Met) c.5512C>A (p.Leu1838Met) c.5482C>A (p.Leu1828Met) c.5554C>A (p.Leu1852Met) | |
| 3 | g.38550762G>A | CA433331851 | SCN5A | c.5607C>T (p.Ala1869=) c.5610C>T (p.Ala1870=) c.5556C>T (p.Ala1852=) c.5448C>T (p.Ala1816=) c.5511C>T (p.Ala1837=) c.5481C>T (p.Ala1827=) c.5553C>T (p.Ala1851=) | |
| 3 | g.38550762G>C | CA433331852 | SCN5A | c.5607C>G (p.Ala1869=) c.5610C>G (p.Ala1870=) c.5556C>G (p.Ala1852=) c.5448C>G (p.Ala1816=) c.5511C>G (p.Ala1837=) c.5481C>G (p.Ala1827=) c.5553C>G (p.Ala1851=) | |
| 3 | g.38550762G>T | CA433331853 | SCN5A | c.5607C>A (p.Ala1869=) c.5610C>A (p.Ala1870=) c.5556C>A (p.Ala1852=) c.5448C>A (p.Ala1816=) c.5511C>A (p.Ala1837=) c.5481C>A (p.Ala1827=) c.5553C>A (p.Ala1851=) | |
| 3 | g.38550763G>A | CA352140644 | SCN5A | c.5606C>T (p.Ala1869Val) c.5609C>T (p.Ala1870Val) c.5555C>T (p.Ala1852Val) c.5447C>T (p.Ala1816Val) c.5510C>T (p.Ala1837Val) c.5480C>T (p.Ala1827Val) c.5552C>T (p.Ala1851Val) | |
| 3 | g.38550763G>C | CA352140646 | SCN5A | c.5606C>G (p.Ala1869Gly) c.5609C>G (p.Ala1870Gly) c.5555C>G (p.Ala1852Gly) c.5447C>G (p.Ala1816Gly) c.5510C>G (p.Ala1837Gly) c.5480C>G (p.Ala1827Gly) c.5552C>G (p.Ala1851Gly) | |
| 3 | g.38550763G= | CA1358556552 | SCN5A | c.5606C= (p.Ala1869=) c.5609C= (p.Ala1870=) c.5555C= (p.Ala1852=) c.5447C= (p.Ala1816=) c.5510C= (p.Ala1837=) c.5480C= (p.Ala1827=) c.5552C= (p.Ala1851=) | |
| 3 | g.38550763G>T | CA019374 | SCN5A | c.5606C>A (p.Ala1869Asp) c.5609C>A (p.Ala1870Asp) c.5555C>A (p.Ala1852Asp) c.5447C>A (p.Ala1816Asp) c.5510C>A (p.Ala1837Asp) c.5480C>A (p.Ala1827Asp) c.5552C>A (p.Ala1851Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550764C>A | CA352140651 | SCN5A | c.5605G>T (p.Ala1869Ser) c.5608G>T (p.Ala1870Ser) c.5554G>T (p.Ala1852Ser) c.5446G>T (p.Ala1816Ser) c.5509G>T (p.Ala1837Ser) c.5479G>T (p.Ala1827Ser) c.5551G>T (p.Ala1851Ser) | gnomAD v4 |
| 3 | g.38550764C= | CA1358556557 | SCN5A | c.5605G= (p.Ala1869=) c.5608G= (p.Ala1870=) c.5554G= (p.Ala1852=) c.5446G= (p.Ala1816=) c.5509G= (p.Ala1837=) c.5479G= (p.Ala1827=) c.5551G= (p.Ala1851=) | |
| 3 | g.38550764C>G | CA352140649 | SCN5A | c.5605G>C (p.Ala1869Pro) c.5608G>C (p.Ala1870Pro) c.5554G>C (p.Ala1852Pro) c.5446G>C (p.Ala1816Pro) c.5509G>C (p.Ala1837Pro) c.5479G>C (p.Ala1827Pro) c.5551G>C (p.Ala1851Pro) | |
| 3 | g.38550764C>T | CA019366 | SCN5A | c.5605G>A (p.Ala1869Thr) c.5608G>A (p.Ala1870Thr) c.5554G>A (p.Ala1852Thr) c.5446G>A (p.Ala1816Thr) c.5509G>A (p.Ala1837Thr) c.5479G>A (p.Ala1827Thr) c.5551G>A (p.Ala1851Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550765G>A | CA064557 | SCN5A | c.5604C>T (p.Asp1868=) c.5607C>T (p.Asp1869=) c.5553C>T (p.Asp1851=) c.5445C>T (p.Asp1815=) c.5508C>T (p.Asp1836=) c.5478C>T (p.Asp1826=) c.5550C>T (p.Asp1850=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550765G>C | CA352140653 | SCN5A | c.5604C>G (p.Asp1868Glu) c.5607C>G (p.Asp1869Glu) c.5553C>G (p.Asp1851Glu) c.5445C>G (p.Asp1815Glu) c.5508C>G (p.Asp1836Glu) c.5478C>G (p.Asp1826Glu) c.5550C>G (p.Asp1850Glu) | |
| 3 | g.38550765G= | CA1358556564 | SCN5A | c.5604C= (p.Asp1868=) c.5607C= (p.Asp1869=) c.5553C= (p.Asp1851=) c.5445C= (p.Asp1815=) c.5508C= (p.Asp1836=) c.5478C= (p.Asp1826=) c.5550C= (p.Asp1850=) | |
| 3 | g.38550765G>T | CA352140654 | SCN5A | c.5604C>A (p.Asp1868Glu) c.5607C>A (p.Asp1869Glu) c.5553C>A (p.Asp1851Glu) c.5445C>A (p.Asp1815Glu) c.5508C>A (p.Asp1836Glu) c.5478C>A (p.Asp1826Glu) c.5550C>A (p.Asp1850Glu) | COSMIC COSMIC COSMIC |
| 3 | g.38550766T>A | CA352140656 | SCN5A | c.5603A>T (p.Asp1868Val) c.5606A>T (p.Asp1869Val) c.5552A>T (p.Asp1851Val) c.5444A>T (p.Asp1815Val) c.5507A>T (p.Asp1836Val) c.5477A>T (p.Asp1826Val) c.5549A>T (p.Asp1850Val) | |
| 3 | g.38550766T>C | CA352140658 | SCN5A | c.5603A>G (p.Asp1868Gly) c.5606A>G (p.Asp1869Gly) c.5552A>G (p.Asp1851Gly) c.5444A>G (p.Asp1815Gly) c.5507A>G (p.Asp1836Gly) c.5477A>G (p.Asp1826Gly) c.5549A>G (p.Asp1850Gly) | |
| 3 | g.38550766T>G | CA352140659 | SCN5A | c.5603A>C (p.Asp1868Ala) c.5606A>C (p.Asp1869Ala) c.5552A>C (p.Asp1851Ala) c.5444A>C (p.Asp1815Ala) c.5507A>C (p.Asp1836Ala) c.5477A>C (p.Asp1826Ala) c.5549A>C (p.Asp1850Ala) | |
| 3 | g.38550767C>A | CA352140662 | SCN5A | c.5602G>T (p.Asp1868Tyr) c.5605G>T (p.Asp1869Tyr) c.5551G>T (p.Asp1851Tyr) c.5443G>T (p.Asp1815Tyr) c.5506G>T (p.Asp1836Tyr) c.5476G>T (p.Asp1826Tyr) c.5548G>T (p.Asp1850Tyr) | |
| 3 | g.38550767C>G | CA352140663 | SCN5A | c.5602G>C (p.Asp1868His) c.5605G>C (p.Asp1869His) c.5551G>C (p.Asp1851His) c.5443G>C (p.Asp1815His) c.5506G>C (p.Asp1836His) c.5476G>C (p.Asp1826His) c.5548G>C (p.Asp1850His) | |
| 3 | g.38550767C>T | CA352140665 | SCN5A | c.5602G>A (p.Asp1868Asn) c.5605G>A (p.Asp1869Asn) c.5551G>A (p.Asp1851Asn) c.5443G>A (p.Asp1815Asn) c.5506G>A (p.Asp1836Asn) c.5476G>A (p.Asp1826Asn) c.5548G>A (p.Asp1850Asn) | |
| 3 | g.38550768C>A | CA352140667 | SCN5A | c.5601G>T (p.Met1867Ile) c.5604G>T (p.Met1868Ile) c.5550G>T (p.Met1850Ile) c.5442G>T (p.Met1814Ile) c.5505G>T (p.Met1835Ile) c.5475G>T (p.Met1825Ile) c.5547G>T (p.Met1849Ile) | |
| 3 | g.38550768C>G | CA352140668 | SCN5A | c.5601G>C (p.Met1867Ile) c.5604G>C (p.Met1868Ile) c.5550G>C (p.Met1850Ile) c.5442G>C (p.Met1814Ile) c.5505G>C (p.Met1835Ile) c.5475G>C (p.Met1825Ile) c.5547G>C (p.Met1849Ile) | |
| 3 | g.38550768C>T | CA352140670 | SCN5A | c.5601G>A (p.Met1867Ile) c.5604G>A (p.Met1868Ile) c.5550G>A (p.Met1850Ile) c.5442G>A (p.Met1814Ile) c.5505G>A (p.Met1835Ile) c.5475G>A (p.Met1825Ile) c.5547G>A (p.Met1849Ile) | gnomAD v4 |
| 3 | g.38550769A>C | CA352140675 | SCN5A | c.5600T>G (p.Met1867Arg) c.5603T>G (p.Met1868Arg) c.5549T>G (p.Met1850Arg) c.5441T>G (p.Met1814Arg) c.5504T>G (p.Met1835Arg) c.5474T>G (p.Met1825Arg) c.5546T>G (p.Met1849Arg) | |
| 3 | g.38550769A>G | CA352140673 | SCN5A | c.5600T>C (p.Met1867Thr) c.5603T>C (p.Met1868Thr) c.5549T>C (p.Met1850Thr) c.5441T>C (p.Met1814Thr) c.5504T>C (p.Met1835Thr) c.5474T>C (p.Met1825Thr) c.5546T>C (p.Met1849Thr) | |
| 3 | g.38550769A>T | CA352140672 | SCN5A | c.5600T>A (p.Met1867Lys) c.5603T>A (p.Met1868Lys) c.5549T>A (p.Met1850Lys) c.5441T>A (p.Met1814Lys) c.5504T>A (p.Met1835Lys) c.5474T>A (p.Met1825Lys) c.5546T>A (p.Met1849Lys) | |
| 3 | g.38550770T>A | CA352140679 | SCN5A | c.5599A>T (p.Met1867Leu) c.5602A>T (p.Met1868Leu) c.5548A>T (p.Met1850Leu) c.5440A>T (p.Met1814Leu) c.5503A>T (p.Met1835Leu) c.5473A>T (p.Met1825Leu) c.5545A>T (p.Met1849Leu) | gnomAD v4 |
| 3 | g.38550770T>C | CA352140677 | SCN5A | c.5599A>G (p.Met1867Val) c.5602A>G (p.Met1868Val) c.5548A>G (p.Met1850Val) c.5440A>G (p.Met1814Val) c.5503A>G (p.Met1835Val) c.5473A>G (p.Met1825Val) c.5545A>G (p.Met1849Val) | |
| 3 | g.38550770T>G | CA352140680 | SCN5A | c.5599A>C (p.Met1867Leu) c.5602A>C (p.Met1868Leu) c.5548A>C (p.Met1850Leu) c.5440A>C (p.Met1814Leu) c.5503A>C (p.Met1835Leu) c.5473A>C (p.Met1825Leu) c.5545A>C (p.Met1849Leu) | |
| 3 | g.38550771C>A | CA352140682 | SCN5A | c.5598G>T (p.Glu1866Asp) c.5601G>T (p.Glu1867Asp) c.5547G>T (p.Glu1849Asp) c.5439G>T (p.Glu1813Asp) c.5502G>T (p.Glu1834Asp) c.5472G>T (p.Glu1824Asp) c.5544G>T (p.Glu1848Asp) | |
| 3 | g.38550771C>G | CA352140684 | SCN5A | c.5598G>C (p.Glu1866Asp) c.5601G>C (p.Glu1867Asp) c.5547G>C (p.Glu1849Asp) c.5439G>C (p.Glu1813Asp) c.5502G>C (p.Glu1834Asp) c.5472G>C (p.Glu1824Asp) c.5544G>C (p.Glu1848Asp) | |
| 3 | g.38550771C>T | CA433331869 | SCN5A | c.5598G>A (p.Glu1866=) c.5601G>A (p.Glu1867=) c.5547G>A (p.Glu1849=) c.5439G>A (p.Glu1813=) c.5502G>A (p.Glu1834=) c.5472G>A (p.Glu1824=) c.5544G>A (p.Glu1848=) | |
| 3 | g.38550772T>A | CA352140686 | SCN5A | c.5597A>T (p.Glu1866Val) c.5600A>T (p.Glu1867Val) c.5546A>T (p.Glu1849Val) c.5438A>T (p.Glu1813Val) c.5501A>T (p.Glu1834Val) c.5471A>T (p.Glu1824Val) c.5543A>T (p.Glu1848Val) | |
| 3 | g.38550772T>C | CA352140688 | SCN5A | c.5597A>G (p.Glu1866Gly) c.5600A>G (p.Glu1867Gly) c.5546A>G (p.Glu1849Gly) c.5438A>G (p.Glu1813Gly) c.5501A>G (p.Glu1834Gly) c.5471A>G (p.Glu1824Gly) c.5543A>G (p.Glu1848Gly) | |
| 3 | g.38550772T>G | CA352140690 | SCN5A | c.5597A>C (p.Glu1866Ala) c.5600A>C (p.Glu1867Ala) c.5546A>C (p.Glu1849Ala) c.5438A>C (p.Glu1813Ala) c.5501A>C (p.Glu1834Ala) c.5471A>C (p.Glu1824Ala) c.5543A>C (p.Glu1848Ala) | |
| 3 | g.38550773C>A | CA352140691 | SCN5A | c.5596G>T (p.Glu1866Ter) c.5599G>T (p.Glu1867Ter) c.5545G>T (p.Glu1849Ter) c.5437G>T (p.Glu1813Ter) c.5500G>T (p.Glu1834Ter) c.5470G>T (p.Glu1824Ter) c.5542G>T (p.Glu1848Ter) | ClinVar dbSNP |
| 3 | g.38550773C= | CA1358556573 | SCN5A | c.5596G= (p.Glu1866=) c.5599G= (p.Glu1867=) c.5545G= (p.Glu1849=) c.5437G= (p.Glu1813=) c.5500G= (p.Glu1834=) c.5470G= (p.Glu1824=) c.5542G= (p.Glu1848=) | |
| 3 | g.38550773C>G | CA352140692 | SCN5A | c.5596G>C (p.Glu1866Gln) c.5599G>C (p.Glu1867Gln) c.5545G>C (p.Glu1849Gln) c.5437G>C (p.Glu1813Gln) c.5500G>C (p.Glu1834Gln) c.5470G>C (p.Glu1824Gln) c.5542G>C (p.Glu1848Gln) | |
| 3 | g.38550773C>T | CA352140694 | SCN5A | c.5596G>A (p.Glu1866Lys) c.5599G>A (p.Glu1867Lys) c.5545G>A (p.Glu1849Lys) c.5437G>A (p.Glu1813Lys) c.5500G>A (p.Glu1834Lys) c.5470G>A (p.Glu1824Lys) c.5542G>A (p.Glu1848Lys) | |
| 3 | g.38550774C>A | CA72937869 | SCN5A | c.5595G>T (p.Gly1865=) c.5598G>T (p.Gly1866=) c.5544G>T (p.Gly1848=) c.5436G>T (p.Gly1812=) c.5499G>T (p.Gly1833=) c.5469G>T (p.Gly1823=) c.5541G>T (p.Gly1847=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550774C= | CA1358556576 | SCN5A | c.5595G= (p.Gly1865=) c.5598G= (p.Gly1866=) c.5544G= (p.Gly1848=) c.5436G= (p.Gly1812=) c.5499G= (p.Gly1833=) c.5469G= (p.Gly1823=) c.5541G= (p.Gly1847=) | |
| 3 | g.38550774C>G | CA433331880 | SCN5A | c.5595G>C (p.Gly1865=) c.5598G>C (p.Gly1866=) c.5544G>C (p.Gly1848=) c.5436G>C (p.Gly1812=) c.5499G>C (p.Gly1833=) c.5469G>C (p.Gly1823=) c.5541G>C (p.Gly1847=) | |
| 3 | g.38550774C>T | CA433331884 | SCN5A | c.5595G>A (p.Gly1865=) c.5598G>A (p.Gly1866=) c.5544G>A (p.Gly1848=) c.5436G>A (p.Gly1812=) c.5499G>A (p.Gly1833=) c.5469G>A (p.Gly1823=) c.5541G>A (p.Gly1847=) | gnomAD v4 |
| 3 | g.38550775C>A | CA352140697 | SCN5A | c.5594G>T (p.Gly1865Val) c.5597G>T (p.Gly1866Val) c.5543G>T (p.Gly1848Val) c.5435G>T (p.Gly1812Val) c.5498G>T (p.Gly1833Val) c.5468G>T (p.Gly1823Val) c.5540G>T (p.Gly1847Val) | |
| 3 | g.38550775C>G | CA352140699 | SCN5A | c.5594G>C (p.Gly1865Ala) c.5597G>C (p.Gly1866Ala) c.5543G>C (p.Gly1848Ala) c.5435G>C (p.Gly1812Ala) c.5498G>C (p.Gly1833Ala) c.5468G>C (p.Gly1823Ala) c.5540G>C (p.Gly1847Ala) | |
| 3 | g.38550775C>T | CA352140701 | SCN5A | c.5594G>A (p.Gly1865Glu) c.5597G>A (p.Gly1866Glu) c.5543G>A (p.Gly1848Glu) c.5435G>A (p.Gly1812Glu) c.5498G>A (p.Gly1833Glu) c.5468G>A (p.Gly1823Glu) c.5540G>A (p.Gly1847Glu) | |
| 3 | g.38550776C>A | CA352140705 | SCN5A | c.5593G>T (p.Gly1865Trp) c.5596G>T (p.Gly1866Trp) c.5542G>T (p.Gly1848Trp) c.5434G>T (p.Gly1812Trp) c.5497G>T (p.Gly1833Trp) c.5467G>T (p.Gly1823Trp) c.5539G>T (p.Gly1847Trp) | |
| 3 | g.38550776C>G | CA352140702 | SCN5A | c.5593G>C (p.Gly1865Arg) c.5596G>C (p.Gly1866Arg) c.5542G>C (p.Gly1848Arg) c.5434G>C (p.Gly1812Arg) c.5497G>C (p.Gly1833Arg) c.5467G>C (p.Gly1823Arg) c.5539G>C (p.Gly1847Arg) | |
| 3 | g.38550776C>T | CA352140703 | SCN5A | c.5593G>A (p.Gly1865Arg) c.5596G>A (p.Gly1866Arg) c.5542G>A (p.Gly1848Arg) c.5434G>A (p.Gly1812Arg) c.5497G>A (p.Gly1833Arg) c.5467G>A (p.Gly1823Arg) c.5539G>A (p.Gly1847Arg) | ClinVar |
| 3 | g.38550777A>C | CA433331894 | SCN5A | c.5592T>G (p.Ser1864=) c.5595T>G (p.Ser1865=) c.5541T>G (p.Ser1847=) c.5433T>G (p.Ser1811=) c.5496T>G (p.Ser1832=) c.5466T>G (p.Ser1822=) c.5538T>G (p.Ser1846=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550777A>G | CA433331900 | SCN5A | c.5592T>C (p.Ser1864=) c.5595T>C (p.Ser1865=) c.5541T>C (p.Ser1847=) c.5433T>C (p.Ser1811=) c.5496T>C (p.Ser1832=) c.5466T>C (p.Ser1822=) c.5538T>C (p.Ser1846=) | |
| 3 | g.38550777A>T | CA433331898 | SCN5A | c.5592T>A (p.Ser1864=) c.5595T>A (p.Ser1865=) c.5541T>A (p.Ser1847=) c.5433T>A (p.Ser1811=) c.5496T>A (p.Ser1832=) c.5466T>A (p.Ser1822=) c.5538T>A (p.Ser1846=) | |
| 3 | g.38550778G>A | CA352140707 | SCN5A | c.5591C>T (p.Ser1864Phe) c.5594C>T (p.Ser1865Phe) c.5540C>T (p.Ser1847Phe) c.5432C>T (p.Ser1811Phe) c.5495C>T (p.Ser1832Phe) c.5465C>T (p.Ser1822Phe) c.5537C>T (p.Ser1846Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38550778G>C | CA352140709 | SCN5A | c.5591C>G (p.Ser1864Cys) c.5594C>G (p.Ser1865Cys) c.5540C>G (p.Ser1847Cys) c.5432C>G (p.Ser1811Cys) c.5495C>G (p.Ser1832Cys) c.5465C>G (p.Ser1822Cys) c.5537C>G (p.Ser1846Cys) | |
| 3 | g.38550778G>T | CA352140710 | SCN5A | c.5591C>A (p.Ser1864Tyr) c.5594C>A (p.Ser1865Tyr) c.5540C>A (p.Ser1847Tyr) c.5432C>A (p.Ser1811Tyr) c.5495C>A (p.Ser1832Tyr) c.5465C>A (p.Ser1822Tyr) c.5537C>A (p.Ser1846Tyr) | |
| 3 | g.38550778_38550781dup | CA2586965744 | SCN5A | c.5588_5591dup (p.Gly1865ValfsTer?) c.5591_5594dup (p.Gly1866ValfsTer?) c.5537_5540dup (p.Gly1848ValfsTer?) c.5429_5432dup (p.Gly1812ValfsTer?) c.5492_5495dup (p.Gly1833ValfsTer?) c.5462_5465dup (p.Gly1823ValfsTer?) c.5534_5537dup (p.Gly1847ValfsTer?) | |
| 3 | g.38550779A>C | CA352140713 | SCN5A | c.5590T>G (p.Ser1864Ala) c.5593T>G (p.Ser1865Ala) c.5539T>G (p.Ser1847Ala) c.5431T>G (p.Ser1811Ala) c.5494T>G (p.Ser1832Ala) c.5464T>G (p.Ser1822Ala) c.5536T>G (p.Ser1846Ala) | |
| 3 | g.38550779A>G | CA352140714 | SCN5A | c.5590T>C (p.Ser1864Pro) c.5593T>C (p.Ser1865Pro) c.5539T>C (p.Ser1847Pro) c.5431T>C (p.Ser1811Pro) c.5494T>C (p.Ser1832Pro) c.5464T>C (p.Ser1822Pro) c.5536T>C (p.Ser1846Pro) | |
| 3 | g.38550779A>T | CA352140716 | SCN5A | c.5590T>A (p.Ser1864Thr) c.5593T>A (p.Ser1865Thr) c.5539T>A (p.Ser1847Thr) c.5431T>A (p.Ser1811Thr) c.5494T>A (p.Ser1832Thr) c.5464T>A (p.Ser1822Thr) c.5536T>A (p.Ser1846Thr) | |
| 3 | g.38550780C>A | CA019360 | SCN5A | c.5589G>T (p.Glu1863Asp) c.5592G>T (p.Glu1864Asp) c.5538G>T (p.Glu1846Asp) c.5430G>T (p.Glu1810Asp) c.5493G>T (p.Glu1831Asp) c.5463G>T (p.Glu1821Asp) c.5535G>T (p.Glu1845Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550780C= | CA1358556579 | SCN5A | c.5589G= (p.Glu1863=) c.5592G= (p.Glu1864=) c.5538G= (p.Glu1846=) c.5430G= (p.Glu1810=) c.5493G= (p.Glu1831=) c.5463G= (p.Glu1821=) c.5535G= (p.Glu1845=) | |
| 3 | g.38550780C>G | CA352140719 | SCN5A | c.5589G>C (p.Glu1863Asp) c.5592G>C (p.Glu1864Asp) c.5538G>C (p.Glu1846Asp) c.5430G>C (p.Glu1810Asp) c.5493G>C (p.Glu1831Asp) c.5463G>C (p.Glu1821Asp) c.5535G>C (p.Glu1845Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550780C>T | CA433331908 | SCN5A | c.5589G>A (p.Glu1863=) c.5592G>A (p.Glu1864=) c.5538G>A (p.Glu1846=) c.5430G>A (p.Glu1810=) c.5493G>A (p.Glu1831=) c.5463G>A (p.Glu1821=) c.5535G>A (p.Glu1845=) | |
| 3 | g.38550781T>A | CA352140721 | SCN5A | c.5588A>T (p.Glu1863Val) c.5591A>T (p.Glu1864Val) c.5537A>T (p.Glu1846Val) c.5429A>T (p.Glu1810Val) c.5492A>T (p.Glu1831Val) c.5462A>T (p.Glu1821Val) c.5534A>T (p.Glu1845Val) | |
| 3 | g.38550781T>C | CA352140722 | SCN5A | c.5588A>G (p.Glu1863Gly) c.5591A>G (p.Glu1864Gly) c.5537A>G (p.Glu1846Gly) c.5429A>G (p.Glu1810Gly) c.5492A>G (p.Glu1831Gly) c.5462A>G (p.Glu1821Gly) c.5534A>G (p.Glu1845Gly) | ClinVar dbSNP |
| 3 | g.38550781T>G | CA352140724 | SCN5A | c.5588A>C (p.Glu1863Ala) c.5591A>C (p.Glu1864Ala) c.5537A>C (p.Glu1846Ala) c.5429A>C (p.Glu1810Ala) c.5492A>C (p.Glu1831Ala) c.5462A>C (p.Glu1821Ala) c.5534A>C (p.Glu1845Ala) | ClinVar |
| 3 | g.38550782C>A | CA16611370 | SCN5A | c.5587G>T (p.Glu1863Ter) c.5590G>T (p.Glu1864Ter) c.5536G>T (p.Glu1846Ter) c.5428G>T (p.Glu1810Ter) c.5491G>T (p.Glu1831Ter) c.5461G>T (p.Glu1821Ter) c.5533G>T (p.Glu1845Ter) | ClinVar dbSNP |
| 3 | g.38550782C= | CA1358556587 | SCN5A | c.5587G= (p.Glu1863=) c.5590G= (p.Glu1864=) c.5536G= (p.Glu1846=) c.5428G= (p.Glu1810=) c.5491G= (p.Glu1831=) c.5461G= (p.Glu1821=) c.5533G= (p.Glu1845=) | |
| 3 | g.38550782C>G | CA352140728 | SCN5A | c.5587G>C (p.Glu1863Gln) c.5590G>C (p.Glu1864Gln) c.5536G>C (p.Glu1846Gln) c.5428G>C (p.Glu1810Gln) c.5491G>C (p.Glu1831Gln) c.5461G>C (p.Glu1821Gln) c.5533G>C (p.Glu1845Gln) | |
| 3 | g.38550782C>T | CA352140726 | SCN5A | c.5587G>A (p.Glu1863Lys) c.5590G>A (p.Glu1864Lys) c.5536G>A (p.Glu1846Lys) c.5428G>A (p.Glu1810Lys) c.5491G>A (p.Glu1831Lys) c.5461G>A (p.Glu1821Lys) c.5533G>A (p.Glu1845Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550783C>A | CA433331912 | SCN5A | c.5586G>T (p.Gly1862=) c.5589G>T (p.Gly1863=) c.5535G>T (p.Gly1845=) c.5427G>T (p.Gly1809=) c.5490G>T (p.Gly1830=) c.5460G>T (p.Gly1820=) c.5532G>T (p.Gly1844=) | |
| 3 | g.38550783C= | CA1358556597 | SCN5A | c.5586G= (p.Gly1862=) c.5589G= (p.Gly1863=) c.5535G= (p.Gly1845=) c.5427G= (p.Gly1809=) c.5490G= (p.Gly1830=) c.5460G= (p.Gly1820=) c.5532G= (p.Gly1844=) | |
| 3 | g.38550783C>G | CA433331915 | SCN5A | c.5586G>C (p.Gly1862=) c.5589G>C (p.Gly1863=) c.5535G>C (p.Gly1845=) c.5427G>C (p.Gly1809=) c.5490G>C (p.Gly1830=) c.5460G>C (p.Gly1820=) c.5532G>C (p.Gly1844=) | |
| 3 | g.38550783C>T | CA433331919 | SCN5A | c.5586G>A (p.Gly1862=) c.5589G>A (p.Gly1863=) c.5535G>A (p.Gly1845=) c.5427G>A (p.Gly1809=) c.5490G>A (p.Gly1830=) c.5460G>A (p.Gly1820=) c.5532G>A (p.Gly1844=) | ClinVar dbSNP |
| 3 | g.38550784C>A | CA352140731 | SCN5A | c.5585G>T (p.Gly1862Val) c.5588G>T (p.Gly1863Val) c.5534G>T (p.Gly1845Val) c.5426G>T (p.Gly1809Val) c.5489G>T (p.Gly1830Val) c.5459G>T (p.Gly1820Val) c.5531G>T (p.Gly1844Val) | |
| 3 | g.38550784C>G | CA352140732 | SCN5A | c.5585G>C (p.Gly1862Ala) c.5588G>C (p.Gly1863Ala) c.5534G>C (p.Gly1845Ala) c.5426G>C (p.Gly1809Ala) c.5489G>C (p.Gly1830Ala) c.5459G>C (p.Gly1820Ala) c.5531G>C (p.Gly1844Ala) | |
| 3 | g.38550784C>T | CA352140734 | SCN5A | c.5585G>A (p.Gly1862Glu) c.5588G>A (p.Gly1863Glu) c.5534G>A (p.Gly1845Glu) c.5426G>A (p.Gly1809Glu) c.5489G>A (p.Gly1830Glu) c.5459G>A (p.Gly1820Glu) c.5531G>A (p.Gly1844Glu) | |
| 3 | g.38550785C>A | CA352140736 | SCN5A | c.5584G>T (p.Gly1862Trp) c.5587G>T (p.Gly1863Trp) c.5533G>T (p.Gly1845Trp) c.5425G>T (p.Gly1809Trp) c.5488G>T (p.Gly1830Trp) c.5458G>T (p.Gly1820Trp) c.5530G>T (p.Gly1844Trp) | |
| 3 | g.38550785C= | CA1358556604 | SCN5A | c.5584G= (p.Gly1862=) c.5587G= (p.Gly1863=) c.5533G= (p.Gly1845=) c.5425G= (p.Gly1809=) c.5488G= (p.Gly1830=) c.5458G= (p.Gly1820=) c.5530G= (p.Gly1844=) | |
| 3 | g.38550785C>G | CA352140738 | SCN5A | c.5584G>C (p.Gly1862Arg) c.5587G>C (p.Gly1863Arg) c.5533G>C (p.Gly1845Arg) c.5425G>C (p.Gly1809Arg) c.5488G>C (p.Gly1830Arg) c.5458G>C (p.Gly1820Arg) c.5530G>C (p.Gly1844Arg) | |
| 3 | g.38550785C>T | CA352140739 | SCN5A | c.5584G>A (p.Gly1862Arg) c.5587G>A (p.Gly1863Arg) c.5533G>A (p.Gly1845Arg) c.5425G>A (p.Gly1809Arg) c.5488G>A (p.Gly1830Arg) c.5458G>A (p.Gly1820Arg) c.5530G>A (p.Gly1844Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550786C>A | CA433331926 | SCN5A | c.5583G>T (p.Leu1861=) c.5586G>T (p.Leu1862=) c.5532G>T (p.Leu1844=) c.5424G>T (p.Leu1808=) c.5487G>T (p.Leu1829=) c.5457G>T (p.Leu1819=) c.5529G>T (p.Leu1843=) | |
| 3 | g.38550786C= | CA1358556611 | SCN5A | c.5583G= (p.Leu1861=) c.5586G= (p.Leu1862=) c.5532G= (p.Leu1844=) c.5424G= (p.Leu1808=) c.5487G= (p.Leu1829=) c.5457G= (p.Leu1819=) c.5529G= (p.Leu1843=) | |
| 3 | g.38550786C>G | CA433331931 | SCN5A | c.5583G>C (p.Leu1861=) c.5586G>C (p.Leu1862=) c.5532G>C (p.Leu1844=) c.5424G>C (p.Leu1808=) c.5487G>C (p.Leu1829=) c.5457G>C (p.Leu1819=) c.5529G>C (p.Leu1843=) | |
| 3 | g.38550786C>T | CA064551 | SCN5A | c.5583G>A (p.Leu1861=) c.5586G>A (p.Leu1862=) c.5532G>A (p.Leu1844=) c.5424G>A (p.Leu1808=) c.5487G>A (p.Leu1829=) c.5457G>A (p.Leu1819=) c.5529G>A (p.Leu1843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550787del | CA2665106302 | SCN5A | c.5582del (p.Leu1861ArgfsTer10) c.5585del (p.Leu1862ArgfsTer10) c.5531del (p.Leu1844ArgfsTer10) c.5423del (p.Leu1808ArgfsTer10) c.5486del (p.Leu1829ArgfsTer10) c.5456del (p.Leu1819ArgfsTer10) c.5528del (p.Leu1843ArgfsTer10) | gnomAD v4 |
| 3 | g.38550787A= | CA1358556615 | SCN5A | c.5582T= (p.Leu1861=) c.5585T= (p.Leu1862=) c.5531T= (p.Leu1844=) c.5423T= (p.Leu1808=) c.5486T= (p.Leu1829=) c.5456T= (p.Leu1819=) c.5528T= (p.Leu1843=) | |
| 3 | g.38550787A>C | CA352140743 | SCN5A | c.5582T>G (p.Leu1861Arg) c.5585T>G (p.Leu1862Arg) c.5531T>G (p.Leu1844Arg) c.5423T>G (p.Leu1808Arg) c.5486T>G (p.Leu1829Arg) c.5456T>G (p.Leu1819Arg) c.5528T>G (p.Leu1843Arg) | |
| 3 | g.38550787A>G | CA352140744 | SCN5A | c.5582T>C (p.Leu1861Pro) c.5585T>C (p.Leu1862Pro) c.5531T>C (p.Leu1844Pro) c.5423T>C (p.Leu1808Pro) c.5486T>C (p.Leu1829Pro) c.5456T>C (p.Leu1819Pro) c.5528T>C (p.Leu1843Pro) | dbSNP |
| 3 | g.38550787A>T | CA352140746 | SCN5A | c.5582T>A (p.Leu1861Gln) c.5585T>A (p.Leu1862Gln) c.5531T>A (p.Leu1844Gln) c.5423T>A (p.Leu1808Gln) c.5486T>A (p.Leu1829Gln) c.5456T>A (p.Leu1819Gln) c.5528T>A (p.Leu1843Gln) | |
| 3 | g.38550788G>A | CA433332035 | SCN5A | c.5581C>T (p.Leu1861=) c.5584C>T (p.Leu1862=) c.5530C>T (p.Leu1844=) c.5422C>T (p.Leu1808=) c.5485C>T (p.Leu1829=) c.5455C>T (p.Leu1819=) c.5527C>T (p.Leu1843=) | gnomAD v4 |
| 3 | g.38550788G>C | CA352140748 | SCN5A | c.5581C>G (p.Leu1861Val) c.5584C>G (p.Leu1862Val) c.5530C>G (p.Leu1844Val) c.5422C>G (p.Leu1808Val) c.5485C>G (p.Leu1829Val) c.5455C>G (p.Leu1819Val) c.5527C>G (p.Leu1843Val) | |
| 3 | g.38550788G>T | CA352140750 | SCN5A | c.5581C>A (p.Leu1861Met) c.5584C>A (p.Leu1862Met) c.5530C>A (p.Leu1844Met) c.5422C>A (p.Leu1808Met) c.5485C>A (p.Leu1829Met) c.5455C>A (p.Leu1819Met) c.5527C>A (p.Leu1843Met) | |
| 3 | g.38550789G>A | CA433332036 | SCN5A | c.5580C>T (p.Val1860=) c.5583C>T (p.Val1861=) c.5529C>T (p.Val1843=) c.5421C>T (p.Val1807=) c.5484C>T (p.Val1828=) c.5454C>T (p.Val1818=) c.5526C>T (p.Val1842=) | gnomAD v4 |
| 3 | g.38550789G>C | CA433332037 | SCN5A | c.5580C>G (p.Val1860=) c.5583C>G (p.Val1861=) c.5529C>G (p.Val1843=) c.5421C>G (p.Val1807=) c.5484C>G (p.Val1828=) c.5454C>G (p.Val1818=) c.5526C>G (p.Val1842=) | |
| 3 | g.38550789G>T | CA433332038 | SCN5A | c.5580C>A (p.Val1860=) c.5583C>A (p.Val1861=) c.5529C>A (p.Val1843=) c.5421C>A (p.Val1807=) c.5484C>A (p.Val1828=) c.5454C>A (p.Val1818=) c.5526C>A (p.Val1842=) | |
| 3 | g.38550790A>C | CA352140753 | SCN5A | c.5579T>G (p.Val1860Gly) c.5582T>G (p.Val1861Gly) c.5528T>G (p.Val1843Gly) c.5420T>G (p.Val1807Gly) c.5483T>G (p.Val1828Gly) c.5453T>G (p.Val1818Gly) c.5525T>G (p.Val1842Gly) | |
| 3 | g.38550790A>G | CA352140755 | SCN5A | c.5579T>C (p.Val1860Ala) c.5582T>C (p.Val1861Ala) c.5528T>C (p.Val1843Ala) c.5420T>C (p.Val1807Ala) c.5483T>C (p.Val1828Ala) c.5453T>C (p.Val1818Ala) c.5525T>C (p.Val1842Ala) | |
| 3 | g.38550790A>T | CA352140752 | SCN5A | c.5579T>A (p.Val1860Asp) c.5582T>A (p.Val1861Asp) c.5528T>A (p.Val1843Asp) c.5420T>A (p.Val1807Asp) c.5483T>A (p.Val1828Asp) c.5453T>A (p.Val1818Asp) c.5525T>A (p.Val1842Asp) | |
| 3 | g.38550791C>A | CA352140757 | SCN5A | c.5578G>T (p.Val1860Phe) c.5581G>T (p.Val1861Phe) c.5527G>T (p.Val1843Phe) c.5419G>T (p.Val1807Phe) c.5482G>T (p.Val1828Phe) c.5452G>T (p.Val1818Phe) c.5524G>T (p.Val1842Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550791C= | CA1358556618 | SCN5A | c.5578G= (p.Val1860=) c.5581G= (p.Val1861=) c.5527G= (p.Val1843=) c.5419G= (p.Val1807=) c.5482G= (p.Val1828=) c.5452G= (p.Val1818=) c.5524G= (p.Val1842=) | |
| 3 | g.38550791C>G | CA352140759 | SCN5A | c.5578G>C (p.Val1860Leu) c.5581G>C (p.Val1861Leu) c.5527G>C (p.Val1843Leu) c.5419G>C (p.Val1807Leu) c.5482G>C (p.Val1828Leu) c.5452G>C (p.Val1818Leu) c.5524G>C (p.Val1842Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550791C>T | CA019353 | SCN5A | c.5578G>A (p.Val1860Ile) c.5581G>A (p.Val1861Ile) c.5527G>A (p.Val1843Ile) c.5419G>A (p.Val1807Ile) c.5482G>A (p.Val1828Ile) c.5452G>A (p.Val1818Ile) c.5524G>A (p.Val1842Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550792C>A | CA352140762 | SCN5A | c.5577G>T (p.Arg1859Ser) c.5580G>T (p.Arg1860Ser) c.5526G>T (p.Arg1842Ser) c.5418G>T (p.Arg1806Ser) c.5481G>T (p.Arg1827Ser) c.5451G>T (p.Arg1817Ser) c.5523G>T (p.Arg1841Ser) | ClinVar dbSNP |
| 3 | g.38550792C= | CA1358556625 | SCN5A | c.5577G= (p.Arg1859=) c.5580G= (p.Arg1860=) c.5526G= (p.Arg1842=) c.5418G= (p.Arg1806=) c.5481G= (p.Arg1827=) c.5451G= (p.Arg1817=) c.5523G= (p.Arg1841=) | |
| 3 | g.38550792C>G | CA352140763 | SCN5A | c.5577G>C (p.Arg1859Ser) c.5580G>C (p.Arg1860Ser) c.5526G>C (p.Arg1842Ser) c.5418G>C (p.Arg1806Ser) c.5481G>C (p.Arg1827Ser) c.5451G>C (p.Arg1817Ser) c.5523G>C (p.Arg1841Ser) | COSMIC COSMIC COSMIC |
| 3 | g.38550792C>T | CA433332039 | SCN5A | c.5577G>A (p.Arg1859=) c.5580G>A (p.Arg1860=) c.5526G>A (p.Arg1842=) c.5418G>A (p.Arg1806=) c.5481G>A (p.Arg1827=) c.5451G>A (p.Arg1817=) c.5523G>A (p.Arg1841=) | |
| 3 | g.38550793C>A | CA352140769 | SCN5A | c.5576G>T (p.Arg1859Met) c.5579G>T (p.Arg1860Met) c.5525G>T (p.Arg1842Met) c.5417G>T (p.Arg1806Met) c.5480G>T (p.Arg1827Met) c.5450G>T (p.Arg1817Met) c.5522G>T (p.Arg1841Met) | |
| 3 | g.38550793C= | CA1358556629 | SCN5A | c.5576G= (p.Arg1859=) c.5579G= (p.Arg1860=) c.5525G= (p.Arg1842=) c.5417G= (p.Arg1806=) c.5480G= (p.Arg1827=) c.5450G= (p.Arg1817=) c.5522G= (p.Arg1841=) | |
| 3 | g.38550793C>G | CA352140768 | SCN5A | c.5576G>C (p.Arg1859Thr) c.5579G>C (p.Arg1860Thr) c.5525G>C (p.Arg1842Thr) c.5417G>C (p.Arg1806Thr) c.5480G>C (p.Arg1827Thr) c.5450G>C (p.Arg1817Thr) c.5522G>C (p.Arg1841Thr) | |
| 3 | g.38550793C>T | CA352140766 | SCN5A | c.5576G>A (p.Arg1859Lys) c.5579G>A (p.Arg1860Lys) c.5525G>A (p.Arg1842Lys) c.5417G>A (p.Arg1806Lys) c.5480G>A (p.Arg1827Lys) c.5450G>A (p.Arg1817Lys) c.5522G>A (p.Arg1841Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550794T>A | CA352140772 | SCN5A | c.5575A>T (p.Arg1859Trp) c.5578A>T (p.Arg1860Trp) c.5524A>T (p.Arg1842Trp) c.5416A>T (p.Arg1806Trp) c.5479A>T (p.Arg1827Trp) c.5449A>T (p.Arg1817Trp) c.5521A>T (p.Arg1841Trp) | |
| 3 | g.38550794T>C | CA352140773 | SCN5A | c.5575A>G (p.Arg1859Gly) c.5578A>G (p.Arg1860Gly) c.5524A>G (p.Arg1842Gly) c.5416A>G (p.Arg1806Gly) c.5479A>G (p.Arg1827Gly) c.5449A>G (p.Arg1817Gly) c.5521A>G (p.Arg1841Gly) | gnomAD v4 |
| 3 | g.38550794T>G | CA433332041 | SCN5A | c.5575A>C (p.Arg1859=) c.5578A>C (p.Arg1860=) c.5524A>C (p.Arg1842=) c.5416A>C (p.Arg1806=) c.5479A>C (p.Arg1827=) c.5449A>C (p.Arg1817=) c.5521A>C (p.Arg1841=) | |
| 3 | g.38550797dup | CA2586965748 | SCN5A | c.5575dup (p.Arg1859LysfsTer?) c.5578dup (p.Arg1860LysfsTer?) c.5524dup (p.Arg1842LysfsTer?) c.5416dup (p.Arg1806LysfsTer?) c.5479dup (p.Arg1827LysfsTer?) c.5449dup (p.Arg1817LysfsTer?) c.5521dup (p.Arg1841LysfsTer?) | |
| 3 | g.38550797del | CA2569804792 | SCN5A | c.5575del (p.Arg1859GlyfsTer12) c.5578del (p.Arg1860GlyfsTer12) c.5524del (p.Arg1842GlyfsTer12) c.5416del (p.Arg1806GlyfsTer12) c.5479del (p.Arg1827GlyfsTer12) c.5449del (p.Arg1817GlyfsTer12) c.5521del (p.Arg1841GlyfsTer12) | |
| 3 | g.38550795T>A | CA352140775 | SCN5A | c.5574A>T (p.Lys1858Asn) c.5577A>T (p.Lys1859Asn) c.5523A>T (p.Lys1841Asn) c.5415A>T (p.Lys1805Asn) c.5478A>T (p.Lys1826Asn) c.5448A>T (p.Lys1816Asn) c.5520A>T (p.Lys1840Asn) | |
| 3 | g.38550795T>C | CA433332042 | SCN5A | c.5574A>G (p.Lys1858=) c.5577A>G (p.Lys1859=) c.5523A>G (p.Lys1841=) c.5415A>G (p.Lys1805=) c.5478A>G (p.Lys1826=) c.5448A>G (p.Lys1816=) c.5520A>G (p.Lys1840=) | |
| 3 | g.38550795T>G | CA352140777 | SCN5A | c.5574A>C (p.Lys1858Asn) c.5577A>C (p.Lys1859Asn) c.5523A>C (p.Lys1841Asn) c.5415A>C (p.Lys1805Asn) c.5478A>C (p.Lys1826Asn) c.5448A>C (p.Lys1816Asn) c.5520A>C (p.Lys1840Asn) | |
| 3 | g.38550796T>A | CA352140780 | SCN5A | c.5573A>T (p.Lys1858Ile) c.5576A>T (p.Lys1859Ile) c.5522A>T (p.Lys1841Ile) c.5414A>T (p.Lys1805Ile) c.5477A>T (p.Lys1826Ile) c.5447A>T (p.Lys1816Ile) c.5519A>T (p.Lys1840Ile) | |
| 3 | g.38550796T>C | CA352140781 | SCN5A | c.5573A>G (p.Lys1858Arg) c.5576A>G (p.Lys1859Arg) c.5522A>G (p.Lys1841Arg) c.5414A>G (p.Lys1805Arg) c.5477A>G (p.Lys1826Arg) c.5447A>G (p.Lys1816Arg) c.5519A>G (p.Lys1840Arg) | ClinVar dbSNP |
| 3 | g.38550796T>G | CA352140783 | SCN5A | c.5573A>C (p.Lys1858Thr) c.5576A>C (p.Lys1859Thr) c.5522A>C (p.Lys1841Thr) c.5414A>C (p.Lys1805Thr) c.5477A>C (p.Lys1826Thr) c.5447A>C (p.Lys1816Thr) c.5519A>C (p.Lys1840Thr) | |
| 3 | g.38550796T= | CA1358556635 | SCN5A | c.5573A= (p.Lys1858=) c.5576A= (p.Lys1859=) c.5522A= (p.Lys1841=) c.5414A= (p.Lys1805=) c.5477A= (p.Lys1826=) c.5447A= (p.Lys1816=) c.5519A= (p.Lys1840=) | |
| 3 | g.38550797T>A | CA352140787 | SCN5A | c.5572A>T (p.Lys1858Ter) c.5575A>T (p.Lys1859Ter) c.5521A>T (p.Lys1841Ter) c.5413A>T (p.Lys1805Ter) c.5476A>T (p.Lys1826Ter) c.5446A>T (p.Lys1816Ter) c.5518A>T (p.Lys1840Ter) | |
| 3 | g.38550797T>C | CA352140788 | SCN5A | c.5572A>G (p.Lys1858Glu) c.5575A>G (p.Lys1859Glu) c.5521A>G (p.Lys1841Glu) c.5413A>G (p.Lys1805Glu) c.5476A>G (p.Lys1826Glu) c.5446A>G (p.Lys1816Glu) c.5518A>G (p.Lys1840Glu) | ClinVar dbSNP |
| 3 | g.38550797T>G | CA352140785 | SCN5A | c.5572A>C (p.Lys1858Gln) c.5575A>C (p.Lys1859Gln) c.5521A>C (p.Lys1841Gln) c.5413A>C (p.Lys1805Gln) c.5476A>C (p.Lys1826Gln) c.5446A>C (p.Lys1816Gln) c.5518A>C (p.Lys1840Gln) | |
| 3 | g.38550798G>A | CA433332043 | SCN5A | c.5571C>T (p.Thr1857=) c.5574C>T (p.Thr1858=) c.5520C>T (p.Thr1840=) c.5412C>T (p.Thr1804=) c.5475C>T (p.Thr1825=) c.5445C>T (p.Thr1815=) c.5517C>T (p.Thr1839=) | |
| 3 | g.38550798G>C | CA433332044 | SCN5A | c.5571C>G (p.Thr1857=) c.5574C>G (p.Thr1858=) c.5520C>G (p.Thr1840=) c.5412C>G (p.Thr1804=) c.5475C>G (p.Thr1825=) c.5445C>G (p.Thr1815=) c.5517C>G (p.Thr1839=) | |
| 3 | g.38550798G>T | CA433332045 | SCN5A | c.5571C>A (p.Thr1857=) c.5574C>A (p.Thr1858=) c.5520C>A (p.Thr1840=) c.5412C>A (p.Thr1804=) c.5475C>A (p.Thr1825=) c.5445C>A (p.Thr1815=) c.5517C>A (p.Thr1839=) | |
| 3 | g.38550799G>A | CA352140791 | SCN5A | c.5570C>T (p.Thr1857Ile) c.5573C>T (p.Thr1858Ile) c.5519C>T (p.Thr1840Ile) c.5411C>T (p.Thr1804Ile) c.5474C>T (p.Thr1825Ile) c.5444C>T (p.Thr1815Ile) c.5516C>T (p.Thr1839Ile) | |
| 3 | g.38550799G>C | CA352140795 | SCN5A | c.5570C>G (p.Thr1857Ser) c.5573C>G (p.Thr1858Ser) c.5519C>G (p.Thr1840Ser) c.5411C>G (p.Thr1804Ser) c.5474C>G (p.Thr1825Ser) c.5444C>G (p.Thr1815Ser) c.5516C>G (p.Thr1839Ser) | |
| 3 | g.38550799G>T | CA352140792 | SCN5A | c.5570C>A (p.Thr1857Asn) c.5573C>A (p.Thr1858Asn) c.5519C>A (p.Thr1840Asn) c.5411C>A (p.Thr1804Asn) c.5474C>A (p.Thr1825Asn) c.5444C>A (p.Thr1815Asn) c.5516C>A (p.Thr1839Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38550800T>A | CA352140797 | SCN5A | c.5569A>T (p.Thr1857Ser) c.5572A>T (p.Thr1858Ser) c.5518A>T (p.Thr1840Ser) c.5410A>T (p.Thr1804Ser) c.5473A>T (p.Thr1825Ser) c.5443A>T (p.Thr1815Ser) c.5515A>T (p.Thr1839Ser) | |
| 3 | g.38550800T>C | CA352140799 | SCN5A | c.5569A>G (p.Thr1857Ala) c.5572A>G (p.Thr1858Ala) c.5518A>G (p.Thr1840Ala) c.5410A>G (p.Thr1804Ala) c.5473A>G (p.Thr1825Ala) c.5443A>G (p.Thr1815Ala) c.5515A>G (p.Thr1839Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38550800T>G | CA352140801 | SCN5A | c.5569A>C (p.Thr1857Pro) c.5572A>C (p.Thr1858Pro) c.5518A>C (p.Thr1840Pro) c.5410A>C (p.Thr1804Pro) c.5473A>C (p.Thr1825Pro) c.5443A>C (p.Thr1815Pro) c.5515A>C (p.Thr1839Pro) | |
| 3 | g.38550801G>A | CA433332047 | SCN5A | c.5568C>T (p.Phe1856=) c.5571C>T (p.Phe1857=) c.5517C>T (p.Phe1839=) c.5409C>T (p.Phe1803=) c.5472C>T (p.Phe1824=) c.5442C>T (p.Phe1814=) c.5514C>T (p.Phe1838=) | |
| 3 | g.38550801G>C | CA352140803 | SCN5A | c.5568C>G (p.Phe1856Leu) c.5571C>G (p.Phe1857Leu) c.5517C>G (p.Phe1839Leu) c.5409C>G (p.Phe1803Leu) c.5472C>G (p.Phe1824Leu) c.5442C>G (p.Phe1814Leu) c.5514C>G (p.Phe1838Leu) | |
| 3 | g.38550801G>T | CA352140804 | SCN5A | c.5568C>A (p.Phe1856Leu) c.5571C>A (p.Phe1857Leu) c.5517C>A (p.Phe1839Leu) c.5409C>A (p.Phe1803Leu) c.5472C>A (p.Phe1824Leu) c.5442C>A (p.Phe1814Leu) c.5514C>A (p.Phe1838Leu) | |
| 3 | g.38550802A>C | CA352140807 | SCN5A | c.5567T>G (p.Phe1856Cys) c.5570T>G (p.Phe1857Cys) c.5516T>G (p.Phe1839Cys) c.5408T>G (p.Phe1803Cys) c.5471T>G (p.Phe1824Cys) c.5441T>G (p.Phe1814Cys) c.5513T>G (p.Phe1838Cys) | gnomAD v4 |
| 3 | g.38550802A>G | CA352140808 | SCN5A | c.5567T>C (p.Phe1856Ser) c.5570T>C (p.Phe1857Ser) c.5516T>C (p.Phe1839Ser) c.5408T>C (p.Phe1803Ser) c.5471T>C (p.Phe1824Ser) c.5441T>C (p.Phe1814Ser) c.5513T>C (p.Phe1838Ser) | |
| 3 | g.38550802A>T | CA352140810 | SCN5A | c.5567T>A (p.Phe1856Tyr) c.5570T>A (p.Phe1857Tyr) c.5516T>A (p.Phe1839Tyr) c.5408T>A (p.Phe1803Tyr) c.5471T>A (p.Phe1824Tyr) c.5441T>A (p.Phe1814Tyr) c.5513T>A (p.Phe1838Tyr) | |
| 3 | g.38550803A>C | CA352140812 | SCN5A | c.5566T>G (p.Phe1856Val) c.5569T>G (p.Phe1857Val) c.5515T>G (p.Phe1839Val) c.5407T>G (p.Phe1803Val) c.5470T>G (p.Phe1824Val) c.5440T>G (p.Phe1814Val) c.5512T>G (p.Phe1838Val) | |
| 3 | g.38550803A>G | CA352140814 | SCN5A | c.5566T>C (p.Phe1856Leu) c.5569T>C (p.Phe1857Leu) c.5515T>C (p.Phe1839Leu) c.5407T>C (p.Phe1803Leu) c.5470T>C (p.Phe1824Leu) c.5440T>C (p.Phe1814Leu) c.5512T>C (p.Phe1838Leu) | |
| 3 | g.38550803A>T | CA352140815 | SCN5A | c.5566T>A (p.Phe1856Ile) c.5569T>A (p.Phe1857Ile) c.5515T>A (p.Phe1839Ile) c.5407T>A (p.Phe1803Ile) c.5470T>A (p.Phe1824Ile) c.5440T>A (p.Phe1814Ile) c.5512T>A (p.Phe1838Ile) | |
| 3 | g.38550804G>A | CA433332051 | SCN5A | c.5565C>T (p.Ala1855=) c.5568C>T (p.Ala1856=) c.5514C>T (p.Ala1838=) c.5406C>T (p.Ala1802=) c.5469C>T (p.Ala1823=) c.5439C>T (p.Ala1813=) c.5511C>T (p.Ala1837=) | |
| 3 | g.38550804G>C | CA433332052 | SCN5A | c.5565C>G (p.Ala1855=) c.5568C>G (p.Ala1856=) c.5514C>G (p.Ala1838=) c.5406C>G (p.Ala1802=) c.5469C>G (p.Ala1823=) c.5439C>G (p.Ala1813=) c.5511C>G (p.Ala1837=) | |
| 3 | g.38550804G>T | CA433332053 | SCN5A | c.5565C>A (p.Ala1855=) c.5568C>A (p.Ala1856=) c.5514C>A (p.Ala1838=) c.5406C>A (p.Ala1802=) c.5469C>A (p.Ala1823=) c.5439C>A (p.Ala1813=) c.5511C>A (p.Ala1837=) | |
| 3 | g.38550805G>A | CA352140821 | SCN5A | c.5564C>T (p.Ala1855Val) c.5567C>T (p.Ala1856Val) c.5513C>T (p.Ala1838Val) c.5405C>T (p.Ala1802Val) c.5468C>T (p.Ala1823Val) c.5438C>T (p.Ala1813Val) c.5510C>T (p.Ala1837Val) | COSMIC COSMIC COSMIC |
| 3 | g.38550805G>C | CA352140819 | SCN5A | c.5564C>G (p.Ala1855Gly) c.5567C>G (p.Ala1856Gly) c.5513C>G (p.Ala1838Gly) c.5405C>G (p.Ala1802Gly) c.5468C>G (p.Ala1823Gly) c.5438C>G (p.Ala1813Gly) c.5510C>G (p.Ala1837Gly) | |
| 3 | g.38550805G>T | CA352140818 | SCN5A | c.5564C>A (p.Ala1855Asp) c.5567C>A (p.Ala1856Asp) c.5513C>A (p.Ala1838Asp) c.5405C>A (p.Ala1802Asp) c.5468C>A (p.Ala1823Asp) c.5438C>A (p.Ala1813Asp) c.5510C>A (p.Ala1837Asp) | |
| 3 | g.38550806C>A | CA352140822 | SCN5A | c.5563G>T (p.Ala1855Ser) c.5566G>T (p.Ala1856Ser) c.5512G>T (p.Ala1838Ser) c.5404G>T (p.Ala1802Ser) c.5467G>T (p.Ala1823Ser) c.5437G>T (p.Ala1813Ser) c.5509G>T (p.Ala1837Ser) | |
| 3 | g.38550806C>G | CA352140824 | SCN5A | c.5563G>C (p.Ala1855Pro) c.5566G>C (p.Ala1856Pro) c.5512G>C (p.Ala1838Pro) c.5404G>C (p.Ala1802Pro) c.5467G>C (p.Ala1823Pro) c.5437G>C (p.Ala1813Pro) c.5509G>C (p.Ala1837Pro) | ClinVar |
| 3 | g.38550806C>T | CA352140826 | SCN5A | c.5563G>A (p.Ala1855Thr) c.5566G>A (p.Ala1856Thr) c.5512G>A (p.Ala1838Thr) c.5404G>A (p.Ala1802Thr) c.5467G>A (p.Ala1823Thr) c.5437G>A (p.Ala1813Thr) c.5509G>A (p.Ala1837Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38550807A>C | CA352140828 | SCN5A | c.5562T>G (p.Phe1854Leu) c.5565T>G (p.Phe1855Leu) c.5511T>G (p.Phe1837Leu) c.5403T>G (p.Phe1801Leu) c.5466T>G (p.Phe1822Leu) c.5436T>G (p.Phe1812Leu) c.5508T>G (p.Phe1836Leu) | |
| 3 | g.38550807A>G | CA433332057 | SCN5A | c.5562T>C (p.Phe1854=) c.5565T>C (p.Phe1855=) c.5511T>C (p.Phe1837=) c.5403T>C (p.Phe1801=) c.5466T>C (p.Phe1822=) c.5436T>C (p.Phe1812=) c.5508T>C (p.Phe1836=) | |
| 3 | g.38550807A>T | CA352140830 | SCN5A | c.5562T>A (p.Phe1854Leu) c.5565T>A (p.Phe1855Leu) c.5511T>A (p.Phe1837Leu) c.5403T>A (p.Phe1801Leu) c.5466T>A (p.Phe1822Leu) c.5436T>A (p.Phe1812Leu) c.5508T>A (p.Phe1836Leu) | |
| 3 | g.38550808A>C | CA352140832 | SCN5A | c.5561T>G (p.Phe1854Cys) c.5564T>G (p.Phe1855Cys) c.5510T>G (p.Phe1837Cys) c.5402T>G (p.Phe1801Cys) c.5465T>G (p.Phe1822Cys) c.5435T>G (p.Phe1812Cys) c.5507T>G (p.Phe1836Cys) | |
| 3 | g.38550808A>G | CA352140834 | SCN5A | c.5561T>C (p.Phe1854Ser) c.5564T>C (p.Phe1855Ser) c.5510T>C (p.Phe1837Ser) c.5402T>C (p.Phe1801Ser) c.5465T>C (p.Phe1822Ser) c.5435T>C (p.Phe1812Ser) c.5507T>C (p.Phe1836Ser) | ClinVar dbSNP |
| 3 | g.38550808A>T | CA352140836 | SCN5A | c.5561T>A (p.Phe1854Tyr) c.5564T>A (p.Phe1855Tyr) c.5510T>A (p.Phe1837Tyr) c.5402T>A (p.Phe1801Tyr) c.5465T>A (p.Phe1822Tyr) c.5435T>A (p.Phe1812Tyr) c.5507T>A (p.Phe1836Tyr) | |
| 3 | g.38550809A>C | CA352140837 | SCN5A | c.5560T>G (p.Phe1854Val) c.5563T>G (p.Phe1855Val) c.5509T>G (p.Phe1837Val) c.5401T>G (p.Phe1801Val) c.5464T>G (p.Phe1822Val) c.5434T>G (p.Phe1812Val) c.5506T>G (p.Phe1836Val) | |
| 3 | g.38550809A>G | CA352140839 | SCN5A | c.5560T>C (p.Phe1854Leu) c.5563T>C (p.Phe1855Leu) c.5509T>C (p.Phe1837Leu) c.5401T>C (p.Phe1801Leu) c.5464T>C (p.Phe1822Leu) c.5434T>C (p.Phe1812Leu) c.5506T>C (p.Phe1836Leu) | |
| 3 | g.38550809A>T | CA352140840 | SCN5A | c.5560T>A (p.Phe1854Ile) c.5563T>A (p.Phe1855Ile) c.5509T>A (p.Phe1837Ile) c.5401T>A (p.Phe1801Ile) c.5464T>A (p.Phe1822Ile) c.5434T>A (p.Phe1812Ile) c.5506T>A (p.Phe1836Ile) | |
| 3 | g.38550810G>A | CA064545 | SCN5A | c.5559C>T (p.Leu1853=) c.5562C>T (p.Leu1854=) c.5508C>T (p.Leu1836=) c.5400C>T (p.Leu1800=) c.5463C>T (p.Leu1821=) c.5433C>T (p.Leu1811=) c.5505C>T (p.Leu1835=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550810G>C | CA433332060 | SCN5A | c.5559C>G (p.Leu1853=) c.5562C>G (p.Leu1854=) c.5508C>G (p.Leu1836=) c.5400C>G (p.Leu1800=) c.5463C>G (p.Leu1821=) c.5433C>G (p.Leu1811=) c.5505C>G (p.Leu1835=) | |
| 3 | g.38550810G= | CA1358556638 | SCN5A | c.5559C= (p.Leu1853=) c.5562C= (p.Leu1854=) c.5508C= (p.Leu1836=) c.5400C= (p.Leu1800=) c.5463C= (p.Leu1821=) c.5433C= (p.Leu1811=) c.5505C= (p.Leu1835=) | |
| 3 | g.38550810G>T | CA433332061 | SCN5A | c.5559C>A (p.Leu1853=) c.5562C>A (p.Leu1854=) c.5508C>A (p.Leu1836=) c.5400C>A (p.Leu1800=) c.5463C>A (p.Leu1821=) c.5433C>A (p.Leu1811=) c.5505C>A (p.Leu1835=) | |
| 3 | g.38550811A>C | CA352140843 | SCN5A | c.5558T>G (p.Leu1853Arg) c.5561T>G (p.Leu1854Arg) c.5507T>G (p.Leu1836Arg) c.5399T>G (p.Leu1800Arg) c.5462T>G (p.Leu1821Arg) c.5432T>G (p.Leu1811Arg) c.5504T>G (p.Leu1835Arg) | |
| 3 | g.38550811A>G | CA352140842 | SCN5A | c.5558T>C (p.Leu1853Pro) c.5561T>C (p.Leu1854Pro) c.5507T>C (p.Leu1836Pro) c.5399T>C (p.Leu1800Pro) c.5462T>C (p.Leu1821Pro) c.5432T>C (p.Leu1811Pro) c.5504T>C (p.Leu1835Pro) | |
| 3 | g.38550811A>T | CA352140841 | SCN5A | c.5558T>A (p.Leu1853His) c.5561T>A (p.Leu1854His) c.5507T>A (p.Leu1836His) c.5399T>A (p.Leu1800His) c.5462T>A (p.Leu1821His) c.5432T>A (p.Leu1811His) c.5504T>A (p.Leu1835His) | |
| 3 | g.38550812G>A | CA352140846 | SCN5A | c.5557C>T (p.Leu1853Phe) c.5560C>T (p.Leu1854Phe) c.5506C>T (p.Leu1836Phe) c.5398C>T (p.Leu1800Phe) c.5461C>T (p.Leu1821Phe) c.5431C>T (p.Leu1811Phe) c.5503C>T (p.Leu1835Phe) | |
| 3 | g.38550812G>C | CA352140844 | SCN5A | c.5557C>G (p.Leu1853Val) c.5560C>G (p.Leu1854Val) c.5506C>G (p.Leu1836Val) c.5398C>G (p.Leu1800Val) c.5461C>G (p.Leu1821Val) c.5431C>G (p.Leu1811Val) c.5503C>G (p.Leu1835Val) | |
| 3 | g.38550812G>T | CA352140845 | SCN5A | c.5557C>A (p.Leu1853Ile) c.5560C>A (p.Leu1854Ile) c.5506C>A (p.Leu1836Ile) c.5398C>A (p.Leu1800Ile) c.5461C>A (p.Leu1821Ile) c.5431C>A (p.Leu1811Ile) c.5503C>A (p.Leu1835Ile) | |
| 3 | g.38550813A= | CA1358556643 | SCN5A | c.5556T= (p.Ile1852=) c.5559T= (p.Ile1853=) c.5505T= (p.Ile1835=) c.5397T= (p.Ile1799=) c.5460T= (p.Ile1820=) c.5430T= (p.Ile1810=) c.5502T= (p.Ile1834=) | |
| 3 | g.38550813A>C | CA352140847 | SCN5A | c.5556T>G (p.Ile1852Met) c.5559T>G (p.Ile1853Met) c.5505T>G (p.Ile1835Met) c.5397T>G (p.Ile1799Met) c.5460T>G (p.Ile1820Met) c.5430T>G (p.Ile1810Met) c.5502T>G (p.Ile1834Met) | |
| 3 | g.38550813A>G | CA064537 | SCN5A | c.5556T>C (p.Ile1852=) c.5559T>C (p.Ile1853=) c.5505T>C (p.Ile1835=) c.5397T>C (p.Ile1799=) c.5460T>C (p.Ile1820=) c.5430T>C (p.Ile1810=) c.5502T>C (p.Ile1834=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550813A>T | CA433332062 | SCN5A | c.5556T>A (p.Ile1852=) c.5559T>A (p.Ile1853=) c.5505T>A (p.Ile1835=) c.5397T>A (p.Ile1799=) c.5460T>A (p.Ile1820=) c.5430T>A (p.Ile1810=) c.5502T>A (p.Ile1834=) | |
| 3 | g.38550814A>C | CA352140848 | SCN5A | c.5555T>G (p.Ile1852Ser) c.5558T>G (p.Ile1853Ser) c.5504T>G (p.Ile1835Ser) c.5396T>G (p.Ile1799Ser) c.5459T>G (p.Ile1820Ser) c.5429T>G (p.Ile1810Ser) c.5501T>G (p.Ile1834Ser) | |
| 3 | g.38550814A>G | CA352140849 | SCN5A | c.5555T>C (p.Ile1852Thr) c.5558T>C (p.Ile1853Thr) c.5504T>C (p.Ile1835Thr) c.5396T>C (p.Ile1799Thr) c.5459T>C (p.Ile1820Thr) c.5429T>C (p.Ile1810Thr) c.5501T>C (p.Ile1834Thr) | |
| 3 | g.38550814A>T | CA352140850 | SCN5A | c.5555T>A (p.Ile1852Asn) c.5558T>A (p.Ile1853Asn) c.5504T>A (p.Ile1835Asn) c.5396T>A (p.Ile1799Asn) c.5459T>A (p.Ile1820Asn) c.5429T>A (p.Ile1810Asn) c.5501T>A (p.Ile1834Asn) | |
| 3 | g.38550815T>A | CA352140851 | SCN5A | c.5554A>T (p.Ile1852Phe) c.5557A>T (p.Ile1853Phe) c.5503A>T (p.Ile1835Phe) c.5395A>T (p.Ile1799Phe) c.5458A>T (p.Ile1820Phe) c.5428A>T (p.Ile1810Phe) c.5500A>T (p.Ile1834Phe) | |
| 3 | g.38550815T>C | CA352140852 | SCN5A | c.5554A>G (p.Ile1852Val) c.5557A>G (p.Ile1853Val) c.5503A>G (p.Ile1835Val) c.5395A>G (p.Ile1799Val) c.5458A>G (p.Ile1820Val) c.5428A>G (p.Ile1810Val) c.5500A>G (p.Ile1834Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550815T>G | CA352140853 | SCN5A | c.5554A>C (p.Ile1852Leu) c.5557A>C (p.Ile1853Leu) c.5503A>C (p.Ile1835Leu) c.5395A>C (p.Ile1799Leu) c.5458A>C (p.Ile1820Leu) c.5428A>C (p.Ile1810Leu) c.5500A>C (p.Ile1834Leu) | ClinVar dbSNP |
| 3 | g.38550815T= | CA1358556649 | SCN5A | c.5554A= (p.Ile1852=) c.5557A= (p.Ile1853=) c.5503A= (p.Ile1835=) c.5395A= (p.Ile1799=) c.5458A= (p.Ile1820=) c.5428A= (p.Ile1810=) c.5500A= (p.Ile1834=) | |
| 3 | g.38550816G>A | CA433332064 | SCN5A | c.5553C>T (p.Asp1851=) c.5556C>T (p.Asp1852=) c.5502C>T (p.Asp1834=) c.5394C>T (p.Asp1798=) c.5457C>T (p.Asp1819=) c.5427C>T (p.Asp1809=) c.5499C>T (p.Asp1833=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38550816G>C | CA352140854 | SCN5A | c.5553C>G (p.Asp1851Glu) c.5556C>G (p.Asp1852Glu) c.5502C>G (p.Asp1834Glu) c.5394C>G (p.Asp1798Glu) c.5457C>G (p.Asp1819Glu) c.5427C>G (p.Asp1809Glu) c.5499C>G (p.Asp1833Glu) | |
| 3 | g.38550816G= | CA1358556655 | SCN5A | c.5553C= (p.Asp1851=) c.5556C= (p.Asp1852=) c.5502C= (p.Asp1834=) c.5394C= (p.Asp1798=) c.5457C= (p.Asp1819=) c.5427C= (p.Asp1809=) c.5499C= (p.Asp1833=) | |
| 3 | g.38550816G>T | CA352140855 | SCN5A | c.5553C>A (p.Asp1851Glu) c.5556C>A (p.Asp1852Glu) c.5502C>A (p.Asp1834Glu) c.5394C>A (p.Asp1798Glu) c.5457C>A (p.Asp1819Glu) c.5427C>A (p.Asp1809Glu) c.5499C>A (p.Asp1833Glu) | |
| 3 | g.38550817T>A | CA064529 | SCN5A | c.5552A>T (p.Asp1851Val) c.5555A>T (p.Asp1852Val) c.5501A>T (p.Asp1834Val) c.5393A>T (p.Asp1798Val) c.5456A>T (p.Asp1819Val) c.5426A>T (p.Asp1809Val) c.5498A>T (p.Asp1833Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38550817T>C | CA352140857 | SCN5A | c.5552A>G (p.Asp1851Gly) c.5555A>G (p.Asp1852Gly) c.5501A>G (p.Asp1834Gly) c.5393A>G (p.Asp1798Gly) c.5456A>G (p.Asp1819Gly) c.5426A>G (p.Asp1809Gly) c.5498A>G (p.Asp1833Gly) | |
| 3 | g.38550817T>G | CA352140856 | SCN5A | c.5552A>C (p.Asp1851Ala) c.5555A>C (p.Asp1852Ala) c.5501A>C (p.Asp1834Ala) c.5393A>C (p.Asp1798Ala) c.5456A>C (p.Asp1819Ala) c.5426A>C (p.Asp1809Ala) c.5498A>C (p.Asp1833Ala) | |
| 3 | g.38550817T= | CA1358556659 | SCN5A | c.5552A= (p.Asp1851=) c.5555A= (p.Asp1852=) c.5501A= (p.Asp1834=) c.5393A= (p.Asp1798=) c.5456A= (p.Asp1819=) c.5426A= (p.Asp1809=) c.5498A= (p.Asp1833=) | |
| 3 | g.38550818C>A | CA352140858 | SCN5A | c.5551G>T (p.Asp1851Tyr) c.5554G>T (p.Asp1852Tyr) c.5500G>T (p.Asp1834Tyr) c.5392G>T (p.Asp1798Tyr) c.5455G>T (p.Asp1819Tyr) c.5425G>T (p.Asp1809Tyr) c.5497G>T (p.Asp1833Tyr) | |
| 3 | g.38550818C>G | CA352140859 | SCN5A | c.5551G>C (p.Asp1851His) c.5554G>C (p.Asp1852His) c.5500G>C (p.Asp1834His) c.5392G>C (p.Asp1798His) c.5455G>C (p.Asp1819His) c.5425G>C (p.Asp1809His) c.5497G>C (p.Asp1833His) | |
| 3 | g.38550818C>T | CA352140860 | SCN5A | c.5551G>A (p.Asp1851Asn) c.5554G>A (p.Asp1852Asn) c.5500G>A (p.Asp1834Asn) c.5392G>A (p.Asp1798Asn) c.5455G>A (p.Asp1819Asn) c.5425G>A (p.Asp1809Asn) c.5497G>A (p.Asp1833Asn) | gnomAD v4 |
| 3 | g.38550819C>A | CA352140861 | SCN5A | c.5550G>T (p.Met1850Ile) c.5553G>T (p.Met1851Ile) c.5499G>T (p.Met1833Ile) c.5391G>T (p.Met1797Ile) c.5454G>T (p.Met1818Ile) c.5424G>T (p.Met1808Ile) c.5496G>T (p.Met1832Ile) | |
| 3 | g.38550819C= | CA1358556662 | SCN5A | c.5550G= (p.Met1850=) c.5553G= (p.Met1851=) c.5499G= (p.Met1833=) c.5391G= (p.Met1797=) c.5454G= (p.Met1818=) c.5424G= (p.Met1808=) c.5496G= (p.Met1832=) | |
| 3 | g.38550819C>G | CA352140862 | SCN5A | c.5550G>C (p.Met1850Ile) c.5553G>C (p.Met1851Ile) c.5499G>C (p.Met1833Ile) c.5391G>C (p.Met1797Ile) c.5454G>C (p.Met1818Ile) c.5424G>C (p.Met1808Ile) c.5496G>C (p.Met1832Ile) | |
| 3 | g.38550819C>T | CA352140863 | SCN5A | c.5550G>A (p.Met1850Ile) c.5553G>A (p.Met1851Ile) c.5499G>A (p.Met1833Ile) c.5391G>A (p.Met1797Ile) c.5454G>A (p.Met1818Ile) c.5424G>A (p.Met1808Ile) c.5496G>A (p.Met1832Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550820A= | CA1358556669 | SCN5A | c.5549T= (p.Met1850=) c.5552T= (p.Met1851=) c.5498T= (p.Met1833=) c.5390T= (p.Met1797=) c.5453T= (p.Met1818=) c.5423T= (p.Met1808=) c.5495T= (p.Met1832=) | |
| 3 | g.38550820A>C | CA352140864 | SCN5A | c.5549T>G (p.Met1850Arg) c.5552T>G (p.Met1851Arg) c.5498T>G (p.Met1833Arg) c.5390T>G (p.Met1797Arg) c.5453T>G (p.Met1818Arg) c.5423T>G (p.Met1808Arg) c.5495T>G (p.Met1832Arg) | |
| 3 | g.38550820A>G | CA352140866 | SCN5A | c.5549T>C (p.Met1850Thr) c.5552T>C (p.Met1851Thr) c.5498T>C (p.Met1833Thr) c.5390T>C (p.Met1797Thr) c.5453T>C (p.Met1818Thr) c.5423T>C (p.Met1808Thr) c.5495T>C (p.Met1832Thr) | |
| 3 | g.38550820A>T | CA352140865 | SCN5A | c.5549T>A (p.Met1850Lys) c.5552T>A (p.Met1851Lys) c.5498T>A (p.Met1833Lys) c.5390T>A (p.Met1797Lys) c.5453T>A (p.Met1818Lys) c.5423T>A (p.Met1808Lys) c.5495T>A (p.Met1832Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550824_38550832del | CA2573052150 | SCN5A | c.5541_5549del (p.Ile1847_Cys1849del) c.5544_5552del (p.Ile1848_Cys1850del) c.5490_5498del (p.Ile1830_Cys1832del) c.5382_5390del (p.Ile1794_Cys1796del) c.5445_5453del (p.Ile1815_Cys1817del) c.5415_5423del (p.Ile1805_Cys1807del) c.5487_5495del (p.Ile1829_Cys1831del) | ClinVar dbSNP |
| 3 | g.38550821T>A | CA352140867 | SCN5A | c.5548A>T (p.Met1850Leu) c.5551A>T (p.Met1851Leu) c.5497A>T (p.Met1833Leu) c.5389A>T (p.Met1797Leu) c.5452A>T (p.Met1818Leu) c.5422A>T (p.Met1808Leu) c.5494A>T (p.Met1832Leu) | |
| 3 | g.38550821T>C | CA352140868 | SCN5A | c.5548A>G (p.Met1850Val) c.5551A>G (p.Met1851Val) c.5497A>G (p.Met1833Val) c.5389A>G (p.Met1797Val) c.5452A>G (p.Met1818Val) c.5422A>G (p.Met1808Val) c.5494A>G (p.Met1832Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550821T>G | CA352140869 | SCN5A | c.5548A>C (p.Met1850Leu) c.5551A>C (p.Met1851Leu) c.5497A>C (p.Met1833Leu) c.5389A>C (p.Met1797Leu) c.5452A>C (p.Met1818Leu) c.5422A>C (p.Met1808Leu) c.5494A>C (p.Met1832Leu) | |
| 3 | g.38550821T= | CA1358556671 | SCN5A | c.5548A= (p.Met1850=) c.5551A= (p.Met1851=) c.5497A= (p.Met1833=) c.5389A= (p.Met1797=) c.5452A= (p.Met1818=) c.5422A= (p.Met1808=) c.5494A= (p.Met1832=) | |
| 3 | g.38550822G>A | CA433332072 | SCN5A | c.5547C>T (p.Cys1849=) c.5550C>T (p.Cys1850=) c.5496C>T (p.Cys1832=) c.5388C>T (p.Cys1796=) c.5451C>T (p.Cys1817=) c.5421C>T (p.Cys1807=) c.5493C>T (p.Cys1831=) | dbSNP |
| 3 | g.38550822G>C | CA352140870 | SCN5A | c.5547C>G (p.Cys1849Trp) c.5550C>G (p.Cys1850Trp) c.5496C>G (p.Cys1832Trp) c.5388C>G (p.Cys1796Trp) c.5451C>G (p.Cys1817Trp) c.5421C>G (p.Cys1807Trp) c.5493C>G (p.Cys1831Trp) | |
| 3 | g.38550822G= | CA1358556672 | SCN5A | c.5547C= (p.Cys1849=) c.5550C= (p.Cys1850=) c.5496C= (p.Cys1832=) c.5388C= (p.Cys1796=) c.5451C= (p.Cys1817=) c.5421C= (p.Cys1807=) c.5493C= (p.Cys1831=) | |
| 3 | g.38550822G>T | CA352140871 | SCN5A | c.5547C>A (p.Cys1849Ter) c.5550C>A (p.Cys1850Ter) c.5496C>A (p.Cys1832Ter) c.5388C>A (p.Cys1796Ter) c.5451C>A (p.Cys1817Ter) c.5421C>A (p.Cys1807Ter) c.5493C>A (p.Cys1831Ter) | dbSNP |
| 3 | g.38550823C>A | CA352140873 | SCN5A | c.5546G>T (p.Cys1849Phe) c.5549G>T (p.Cys1850Phe) c.5495G>T (p.Cys1832Phe) c.5387G>T (p.Cys1796Phe) c.5450G>T (p.Cys1817Phe) c.5420G>T (p.Cys1807Phe) c.5492G>T (p.Cys1831Phe) | |
| 3 | g.38550823C= | CA1358556673 | SCN5A | c.5546G= (p.Cys1849=) c.5549G= (p.Cys1850=) c.5495G= (p.Cys1832=) c.5387G= (p.Cys1796=) c.5450G= (p.Cys1817=) c.5420G= (p.Cys1807=) c.5492G= (p.Cys1831=) | |
| 3 | g.38550823C>G | CA019342 | SCN5A | c.5546G>C (p.Cys1849Ser) c.5549G>C (p.Cys1850Ser) c.5495G>C (p.Cys1832Ser) c.5387G>C (p.Cys1796Ser) c.5450G>C (p.Cys1817Ser) c.5420G>C (p.Cys1807Ser) c.5492G>C (p.Cys1831Ser) | ClinVar dbSNP |
| 3 | g.38550823C>T | CA352140872 | SCN5A | c.5546G>A (p.Cys1849Tyr) c.5549G>A (p.Cys1850Tyr) c.5495G>A (p.Cys1832Tyr) c.5387G>A (p.Cys1796Tyr) c.5450G>A (p.Cys1817Tyr) c.5420G>A (p.Cys1807Tyr) c.5492G>A (p.Cys1831Tyr) | gnomAD v4 |
| 3 | g.38550824A>C | CA352140874 | SCN5A | c.5545T>G (p.Cys1849Gly) c.5548T>G (p.Cys1850Gly) c.5494T>G (p.Cys1832Gly) c.5386T>G (p.Cys1796Gly) c.5449T>G (p.Cys1817Gly) c.5419T>G (p.Cys1807Gly) c.5491T>G (p.Cys1831Gly) | |
| 3 | g.38550824A>G | CA352140876 | SCN5A | c.5545T>C (p.Cys1849Arg) c.5548T>C (p.Cys1850Arg) c.5494T>C (p.Cys1832Arg) c.5386T>C (p.Cys1796Arg) c.5449T>C (p.Cys1817Arg) c.5419T>C (p.Cys1807Arg) c.5491T>C (p.Cys1831Arg) | gnomAD v4 |
| 3 | g.38550824A>T | CA352140875 | SCN5A | c.5545T>A (p.Cys1849Ser) c.5548T>A (p.Cys1850Ser) c.5494T>A (p.Cys1832Ser) c.5386T>A (p.Cys1796Ser) c.5449T>A (p.Cys1817Ser) c.5419T>A (p.Cys1807Ser) c.5491T>A (p.Cys1831Ser) | |
| 3 | g.38550825A>C | CA352140877 | SCN5A | c.5544T>G (p.His1848Gln) c.5547T>G (p.His1849Gln) c.5493T>G (p.His1831Gln) c.5385T>G (p.His1795Gln) c.5448T>G (p.His1816Gln) c.5418T>G (p.His1806Gln) c.5490T>G (p.His1830Gln) | |
| 3 | g.38550825A>G | CA433332079 | SCN5A | c.5544T>C (p.His1848=) c.5547T>C (p.His1849=) c.5493T>C (p.His1831=) c.5385T>C (p.His1795=) c.5448T>C (p.His1816=) c.5418T>C (p.His1806=) c.5490T>C (p.His1830=) | |
| 3 | g.38550825A>T | CA352140878 | SCN5A | c.5544T>A (p.His1848Gln) c.5547T>A (p.His1849Gln) c.5493T>A (p.His1831Gln) c.5385T>A (p.His1795Gln) c.5448T>A (p.His1816Gln) c.5418T>A (p.His1806Gln) c.5490T>A (p.His1830Gln) | |
| 3 | g.38550826T>A | CA352140879 | SCN5A | c.5543A>T (p.His1848Leu) c.5546A>T (p.His1849Leu) c.5492A>T (p.His1831Leu) c.5384A>T (p.His1795Leu) c.5447A>T (p.His1816Leu) c.5417A>T (p.His1806Leu) c.5489A>T (p.His1830Leu) | |
| 3 | g.38550826T>C | CA019336 | SCN5A | c.5543A>G (p.His1848Arg) c.5546A>G (p.His1849Arg) c.5492A>G (p.His1831Arg) c.5384A>G (p.His1795Arg) c.5447A>G (p.His1816Arg) c.5417A>G (p.His1806Arg) c.5489A>G (p.His1830Arg) | ClinVar dbSNP |
| 3 | g.38550826T>G | CA352140880 | SCN5A | c.5543A>C (p.His1848Pro) c.5546A>C (p.His1849Pro) c.5492A>C (p.His1831Pro) c.5384A>C (p.His1795Pro) c.5447A>C (p.His1816Pro) c.5417A>C (p.His1806Pro) c.5489A>C (p.His1830Pro) | |
| 3 | g.38550826T= | CA1358556675 | SCN5A | c.5543A= (p.His1848=) c.5546A= (p.His1849=) c.5492A= (p.His1831=) c.5384A= (p.His1795=) c.5447A= (p.His1816=) c.5417A= (p.His1806=) c.5489A= (p.His1830=) | |
| 3 | g.38550827G>A | CA352140881 | SCN5A | c.5542C>T (p.His1848Tyr) c.5545C>T (p.His1849Tyr) c.5491C>T (p.His1831Tyr) c.5383C>T (p.His1795Tyr) c.5446C>T (p.His1816Tyr) c.5416C>T (p.His1806Tyr) c.5488C>T (p.His1830Tyr) | |
| 3 | g.38550827G>C | CA352140882 | SCN5A | c.5542C>G (p.His1848Asp) c.5545C>G (p.His1849Asp) c.5491C>G (p.His1831Asp) c.5383C>G (p.His1795Asp) c.5446C>G (p.His1816Asp) c.5416C>G (p.His1806Asp) c.5488C>G (p.His1830Asp) | |
| 3 | g.38550827G>T | CA352140883 | SCN5A | c.5542C>A (p.His1848Asn) c.5545C>A (p.His1849Asn) c.5491C>A (p.His1831Asn) c.5383C>A (p.His1795Asn) c.5446C>A (p.His1816Asn) c.5416C>A (p.His1806Asn) c.5488C>A (p.His1830Asn) | |
| 3 | g.38550828G>A | CA433332082 | SCN5A | c.5541C>T (p.Ile1847=) c.5544C>T (p.Ile1848=) c.5490C>T (p.Ile1830=) c.5382C>T (p.Ile1794=) c.5445C>T (p.Ile1815=) c.5415C>T (p.Ile1805=) c.5487C>T (p.Ile1829=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550828G>C | CA352140884 | SCN5A | c.5541C>G (p.Ile1847Met) c.5544C>G (p.Ile1848Met) c.5490C>G (p.Ile1830Met) c.5382C>G (p.Ile1794Met) c.5445C>G (p.Ile1815Met) c.5415C>G (p.Ile1805Met) c.5487C>G (p.Ile1829Met) | ClinVar |
| 3 | g.38550828G= | CA1358556682 | SCN5A | c.5541C= (p.Ile1847=) c.5544C= (p.Ile1848=) c.5490C= (p.Ile1830=) c.5382C= (p.Ile1794=) c.5445C= (p.Ile1815=) c.5415C= (p.Ile1805=) c.5487C= (p.Ile1829=) | |
| 3 | g.38550828G>T | CA433332084 | SCN5A | c.5541C>A (p.Ile1847=) c.5544C>A (p.Ile1848=) c.5490C>A (p.Ile1830=) c.5382C>A (p.Ile1794=) c.5445C>A (p.Ile1815=) c.5415C>A (p.Ile1805=) c.5487C>A (p.Ile1829=) | |
| 3 | g.38550828_38550843delinsGATGCGGTCCCCACTC | CA1358556679 | SCN5A | c.5526_5541delinsGAGTGGGGACCGCATC (p.Val1842=) c.5529_5544delinsGAGTGGGGACCGCATC (p.Val1843=) c.5475_5490delinsGAGTGGGGACCGCATC (p.Val1825=) c.5367_5382delinsGAGTGGGGACCGCATC (p.Val1789=) c.5430_5445delinsGAGTGGGGACCGCATC (p.Val1810=) c.5400_5415delinsGAGTGGGGACCGCATC (p.Val1800=) c.5472_5487delinsGAGTGGGGACCGCATC (p.Val1824=) | |
| 3 | g.38550829A>C | CA352140887 | SCN5A | c.5540T>G (p.Ile1847Ser) c.5543T>G (p.Ile1848Ser) c.5489T>G (p.Ile1830Ser) c.5381T>G (p.Ile1794Ser) c.5444T>G (p.Ile1815Ser) c.5414T>G (p.Ile1805Ser) c.5486T>G (p.Ile1829Ser) | ClinVar |
| 3 | g.38550829A>G | CA352140886 | SCN5A | c.5540T>C (p.Ile1847Thr) c.5543T>C (p.Ile1848Thr) c.5489T>C (p.Ile1830Thr) c.5381T>C (p.Ile1794Thr) c.5444T>C (p.Ile1815Thr) c.5414T>C (p.Ile1805Thr) c.5486T>C (p.Ile1829Thr) | |
| 3 | g.38550829A>T | CA352140885 | SCN5A | c.5540T>A (p.Ile1847Asn) c.5543T>A (p.Ile1848Asn) c.5489T>A (p.Ile1830Asn) c.5381T>A (p.Ile1794Asn) c.5444T>A (p.Ile1815Asn) c.5414T>A (p.Ile1805Asn) c.5486T>A (p.Ile1829Asn) | |
| 3 | g.38550830_38550844del | CA019314 | SCN5A | c.5526_5540del (p.Ser1843_Ile1847del) c.5529_5543del (p.Ser1844_Ile1848del) c.5475_5489del (p.Ser1826_Ile1830del) c.5367_5381del (p.Ser1790_Ile1794del) c.5430_5444del (p.Ser1811_Ile1815del) c.5400_5414del (p.Ser1801_Ile1805del) c.5472_5486del (p.Ser1825_Ile1829del) | ClinVar dbSNP |
| 3 | g.38550830T>A | CA352140888 | SCN5A | c.5539A>T (p.Ile1847Phe) c.5542A>T (p.Ile1848Phe) c.5488A>T (p.Ile1830Phe) c.5380A>T (p.Ile1794Phe) c.5443A>T (p.Ile1815Phe) c.5413A>T (p.Ile1805Phe) c.5485A>T (p.Ile1829Phe) | |
| 3 | g.38550830T>C | CA352140889 | SCN5A | c.5539A>G (p.Ile1847Val) c.5542A>G (p.Ile1848Val) c.5488A>G (p.Ile1830Val) c.5380A>G (p.Ile1794Val) c.5443A>G (p.Ile1815Val) c.5413A>G (p.Ile1805Val) c.5485A>G (p.Ile1829Val) | |
| 3 | g.38550830T>G | CA352140890 | SCN5A | c.5539A>C (p.Ile1847Leu) c.5542A>C (p.Ile1848Leu) c.5488A>C (p.Ile1830Leu) c.5380A>C (p.Ile1794Leu) c.5443A>C (p.Ile1815Leu) c.5413A>C (p.Ile1805Leu) c.5485A>C (p.Ile1829Leu) | |
| 3 | g.38550831G>A | CA433332088 | SCN5A | c.5538C>T (p.Arg1846=) c.5541C>T (p.Arg1847=) c.5487C>T (p.Arg1829=) c.5379C>T (p.Arg1793=) c.5442C>T (p.Arg1814=) c.5412C>T (p.Arg1804=) c.5484C>T (p.Arg1828=) | |
| 3 | g.38550831G>C | CA433332089 | SCN5A | c.5538C>G (p.Arg1846=) c.5541C>G (p.Arg1847=) c.5487C>G (p.Arg1829=) c.5379C>G (p.Arg1793=) c.5442C>G (p.Arg1814=) c.5412C>G (p.Arg1804=) c.5484C>G (p.Arg1828=) | |
| 3 | g.38550831G>T | CA433332090 | SCN5A | c.5538C>A (p.Arg1846=) c.5541C>A (p.Arg1847=) c.5487C>A (p.Arg1829=) c.5379C>A (p.Arg1793=) c.5442C>A (p.Arg1814=) c.5412C>A (p.Arg1804=) c.5484C>A (p.Arg1828=) | |
| 3 | g.38550832C>A | CA352140891 | SCN5A | c.5537G>T (p.Arg1846Leu) c.5540G>T (p.Arg1847Leu) c.5486G>T (p.Arg1829Leu) c.5378G>T (p.Arg1793Leu) c.5441G>T (p.Arg1814Leu) c.5411G>T (p.Arg1804Leu) c.5483G>T (p.Arg1828Leu) | ClinVar dbSNP |
| 3 | g.38550832C= | CA1358556694 | SCN5A | c.5537G= (p.Arg1846=) c.5540G= (p.Arg1847=) c.5486G= (p.Arg1829=) c.5378G= (p.Arg1793=) c.5441G= (p.Arg1814=) c.5411G= (p.Arg1804=) c.5483G= (p.Arg1828=) | |
| 3 | g.38550832C>G | CA352140892 | SCN5A | c.5537G>C (p.Arg1846Pro) c.5540G>C (p.Arg1847Pro) c.5486G>C (p.Arg1829Pro) c.5378G>C (p.Arg1793Pro) c.5441G>C (p.Arg1814Pro) c.5411G>C (p.Arg1804Pro) c.5483G>C (p.Arg1828Pro) | |
| 3 | g.38550832C>T | CA019325 | SCN5A | c.5537G>A (p.Arg1846His) c.5540G>A (p.Arg1847His) c.5486G>A (p.Arg1829His) c.5378G>A (p.Arg1793His) c.5441G>A (p.Arg1814His) c.5411G>A (p.Arg1804His) c.5483G>A (p.Arg1828His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550833G>A | CA064515 | SCN5A | c.5536C>T (p.Arg1846Cys) c.5539C>T (p.Arg1847Cys) c.5485C>T (p.Arg1829Cys) c.5377C>T (p.Arg1793Cys) c.5440C>T (p.Arg1814Cys) c.5410C>T (p.Arg1804Cys) c.5482C>T (p.Arg1828Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550833G>C | CA352140893 | SCN5A | c.5536C>G (p.Arg1846Gly) c.5539C>G (p.Arg1847Gly) c.5485C>G (p.Arg1829Gly) c.5377C>G (p.Arg1793Gly) c.5440C>G (p.Arg1814Gly) c.5410C>G (p.Arg1804Gly) c.5482C>G (p.Arg1828Gly) | ClinVar dbSNP |
| 3 | g.38550833G= | CA1358556698 | SCN5A | c.5536C= (p.Arg1846=) c.5539C= (p.Arg1847=) c.5485C= (p.Arg1829=) c.5377C= (p.Arg1793=) c.5440C= (p.Arg1814=) c.5410C= (p.Arg1804=) c.5482C= (p.Arg1828=) | |
| 3 | g.38550833G>T | CA352140894 | SCN5A | c.5536C>A (p.Arg1846Ser) c.5539C>A (p.Arg1847Ser) c.5485C>A (p.Arg1829Ser) c.5377C>A (p.Arg1793Ser) c.5440C>A (p.Arg1814Ser) c.5410C>A (p.Arg1804Ser) c.5482C>A (p.Arg1828Ser) | |
| 3 | g.38550834G>A | CA433332094 | SCN5A | c.5535C>T (p.Asp1845=) c.5538C>T (p.Asp1846=) c.5484C>T (p.Asp1828=) c.5376C>T (p.Asp1792=) c.5439C>T (p.Asp1813=) c.5409C>T (p.Asp1803=) c.5481C>T (p.Asp1827=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550834G>C | CA352140895 | SCN5A | c.5535C>G (p.Asp1845Glu) c.5538C>G (p.Asp1846Glu) c.5484C>G (p.Asp1828Glu) c.5376C>G (p.Asp1792Glu) c.5439C>G (p.Asp1813Glu) c.5409C>G (p.Asp1803Glu) c.5481C>G (p.Asp1827Glu) | |
| 3 | g.38550834G= | CA1358556705 | SCN5A | c.5535C= (p.Asp1845=) c.5538C= (p.Asp1846=) c.5484C= (p.Asp1828=) c.5376C= (p.Asp1792=) c.5439C= (p.Asp1813=) c.5409C= (p.Asp1803=) c.5481C= (p.Asp1827=) | |
| 3 | g.38550834G>T | CA352140896 | SCN5A | c.5535C>A (p.Asp1845Glu) c.5538C>A (p.Asp1846Glu) c.5484C>A (p.Asp1828Glu) c.5376C>A (p.Asp1792Glu) c.5439C>A (p.Asp1813Glu) c.5409C>A (p.Asp1803Glu) c.5481C>A (p.Asp1827Glu) | ClinVar |
| 3 | g.38550835T>A | CA352140898 | SCN5A | c.5534A>T (p.Asp1845Val) c.5537A>T (p.Asp1846Val) c.5483A>T (p.Asp1828Val) c.5375A>T (p.Asp1792Val) c.5438A>T (p.Asp1813Val) c.5408A>T (p.Asp1803Val) c.5480A>T (p.Asp1827Val) | |
| 3 | g.38550835T>C | CA352140899 | SCN5A | c.5534A>G (p.Asp1845Gly) c.5537A>G (p.Asp1846Gly) c.5483A>G (p.Asp1828Gly) c.5375A>G (p.Asp1792Gly) c.5438A>G (p.Asp1813Gly) c.5408A>G (p.Asp1803Gly) c.5480A>G (p.Asp1827Gly) | |
| 3 | g.38550835T>G | CA352140897 | SCN5A | c.5534A>C (p.Asp1845Ala) c.5537A>C (p.Asp1846Ala) c.5483A>C (p.Asp1828Ala) c.5375A>C (p.Asp1792Ala) c.5438A>C (p.Asp1813Ala) c.5408A>C (p.Asp1803Ala) c.5480A>C (p.Asp1827Ala) | |
| 3 | g.38550836C>A | CA352140900 | SCN5A | c.5533G>T (p.Asp1845Tyr) c.5536G>T (p.Asp1846Tyr) c.5482G>T (p.Asp1828Tyr) c.5374G>T (p.Asp1792Tyr) c.5437G>T (p.Asp1813Tyr) c.5407G>T (p.Asp1803Tyr) c.5479G>T (p.Asp1827Tyr) | |
| 3 | g.38550836C>G | CA352140901 | SCN5A | c.5533G>C (p.Asp1845His) c.5536G>C (p.Asp1846His) c.5482G>C (p.Asp1828His) c.5374G>C (p.Asp1792His) c.5437G>C (p.Asp1813His) c.5407G>C (p.Asp1803His) c.5479G>C (p.Asp1827His) | |
| 3 | g.38550836C>T | CA352140902 | SCN5A | c.5533G>A (p.Asp1845Asn) c.5536G>A (p.Asp1846Asn) c.5482G>A (p.Asp1828Asn) c.5374G>A (p.Asp1792Asn) c.5437G>A (p.Asp1813Asn) c.5407G>A (p.Asp1803Asn) c.5479G>A (p.Asp1827Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38550837C>A | CA433332098 | SCN5A | c.5532G>T (p.Gly1844=) c.5535G>T (p.Gly1845=) c.5481G>T (p.Gly1827=) c.5373G>T (p.Gly1791=) c.5436G>T (p.Gly1812=) c.5406G>T (p.Gly1802=) c.5478G>T (p.Gly1826=) | gnomAD v4 |
| 3 | g.38550837C>G | CA433332099 | SCN5A | c.5532G>C (p.Gly1844=) c.5535G>C (p.Gly1845=) c.5481G>C (p.Gly1827=) c.5373G>C (p.Gly1791=) c.5436G>C (p.Gly1812=) c.5406G>C (p.Gly1802=) c.5478G>C (p.Gly1826=) | |
| 3 | g.38550837C>T | CA433332100 | SCN5A | c.5532G>A (p.Gly1844=) c.5535G>A (p.Gly1845=) c.5481G>A (p.Gly1827=) c.5373G>A (p.Gly1791=) c.5436G>A (p.Gly1812=) c.5406G>A (p.Gly1802=) c.5478G>A (p.Gly1826=) | gnomAD v4 |
| 3 | g.38550838C>A | CA352140903 | SCN5A | c.5531G>T (p.Gly1844Val) c.5534G>T (p.Gly1845Val) c.5480G>T (p.Gly1827Val) c.5372G>T (p.Gly1791Val) c.5435G>T (p.Gly1812Val) c.5405G>T (p.Gly1802Val) c.5477G>T (p.Gly1826Val) | COSMIC COSMIC COSMIC |
| 3 | g.38550838C= | CA1358556707 | SCN5A | c.5531G= (p.Gly1844=) c.5534G= (p.Gly1845=) c.5480G= (p.Gly1827=) c.5372G= (p.Gly1791=) c.5435G= (p.Gly1812=) c.5405G= (p.Gly1802=) c.5477G= (p.Gly1826=) | |
| 3 | g.38550838C>G | CA352140904 | SCN5A | c.5531G>C (p.Gly1844Ala) c.5534G>C (p.Gly1845Ala) c.5480G>C (p.Gly1827Ala) c.5372G>C (p.Gly1791Ala) c.5435G>C (p.Gly1812Ala) c.5405G>C (p.Gly1802Ala) c.5477G>C (p.Gly1826Ala) | |
| 3 | g.38550838C>T | CA352140905 | SCN5A | c.5531G>A (p.Gly1844Glu) c.5534G>A (p.Gly1845Glu) c.5480G>A (p.Gly1827Glu) c.5372G>A (p.Gly1791Glu) c.5435G>A (p.Gly1812Glu) c.5405G>A (p.Gly1802Glu) c.5477G>A (p.Gly1826Glu) | ClinVar |
| 3 | g.38550839C>A | CA352140908 | SCN5A | c.5530G>T (p.Gly1844Trp) c.5533G>T (p.Gly1845Trp) c.5479G>T (p.Gly1827Trp) c.5371G>T (p.Gly1791Trp) c.5434G>T (p.Gly1812Trp) c.5404G>T (p.Gly1802Trp) c.5476G>T (p.Gly1826Trp) | |
| 3 | g.38550839C= | CA1358556713 | SCN5A | c.5530G= (p.Gly1844=) c.5533G= (p.Gly1845=) c.5479G= (p.Gly1827=) c.5371G= (p.Gly1791=) c.5434G= (p.Gly1812=) c.5404G= (p.Gly1802=) c.5476G= (p.Gly1826=) | |
| 3 | g.38550839C>G | CA352140906 | SCN5A | c.5530G>C (p.Gly1844Arg) c.5533G>C (p.Gly1845Arg) c.5479G>C (p.Gly1827Arg) c.5371G>C (p.Gly1791Arg) c.5434G>C (p.Gly1812Arg) c.5404G>C (p.Gly1802Arg) c.5476G>C (p.Gly1826Arg) | |
| 3 | g.38550839C>T | CA352140907 | SCN5A | c.5530G>A (p.Gly1844Arg) c.5533G>A (p.Gly1845Arg) c.5479G>A (p.Gly1827Arg) c.5371G>A (p.Gly1791Arg) c.5434G>A (p.Gly1812Arg) c.5404G>A (p.Gly1802Arg) c.5476G>A (p.Gly1826Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550842_38550845dup | CA16617941 | SCN5A | c.5527_5530dup (p.Gly1844GlufsTer?) c.5530_5533dup (p.Gly1845GlufsTer?) c.5476_5479dup (p.Gly1827GlufsTer?) c.5368_5371dup (p.Gly1791GlufsTer?) c.5431_5434dup (p.Gly1812GlufsTer?) c.5401_5404dup (p.Gly1802GlufsTer?) c.5473_5476dup (p.Gly1826GlufsTer?) | ClinVar dbSNP |
| 3 | g.38550840A= | CA1358556719 | SCN5A | c.5529T= (p.Ser1843=) c.5532T= (p.Ser1844=) c.5478T= (p.Ser1826=) c.5370T= (p.Ser1790=) c.5433T= (p.Ser1811=) c.5403T= (p.Ser1801=) c.5475T= (p.Ser1825=) | |
| 3 | g.38550840A>C | CA352140909 | SCN5A | c.5529T>G (p.Ser1843Arg) c.5532T>G (p.Ser1844Arg) c.5478T>G (p.Ser1826Arg) c.5370T>G (p.Ser1790Arg) c.5433T>G (p.Ser1811Arg) c.5403T>G (p.Ser1801Arg) c.5475T>G (p.Ser1825Arg) | ClinVar |
| 3 | g.38550840A>G | CA433332101 | SCN5A | c.5529T>C (p.Ser1843=) c.5532T>C (p.Ser1844=) c.5478T>C (p.Ser1826=) c.5370T>C (p.Ser1790=) c.5433T>C (p.Ser1811=) c.5403T>C (p.Ser1801=) c.5475T>C (p.Ser1825=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550840A>T | CA352140910 | SCN5A | c.5529T>A (p.Ser1843Arg) c.5532T>A (p.Ser1844Arg) c.5478T>A (p.Ser1826Arg) c.5370T>A (p.Ser1790Arg) c.5433T>A (p.Ser1811Arg) c.5403T>A (p.Ser1801Arg) c.5475T>A (p.Ser1825Arg) | |
| 3 | g.38550841C>A | CA352140911 | SCN5A | c.5528G>T (p.Ser1843Ile) c.5531G>T (p.Ser1844Ile) c.5477G>T (p.Ser1826Ile) c.5369G>T (p.Ser1790Ile) c.5432G>T (p.Ser1811Ile) c.5402G>T (p.Ser1801Ile) c.5474G>T (p.Ser1825Ile) | |
| 3 | g.38550841C>G | CA352140912 | SCN5A | c.5528G>C (p.Ser1843Thr) c.5531G>C (p.Ser1844Thr) c.5477G>C (p.Ser1826Thr) c.5369G>C (p.Ser1790Thr) c.5432G>C (p.Ser1811Thr) c.5402G>C (p.Ser1801Thr) c.5474G>C (p.Ser1825Thr) | |
| 3 | g.38550841C>T | CA352140913 | SCN5A | c.5528G>A (p.Ser1843Asn) c.5531G>A (p.Ser1844Asn) c.5477G>A (p.Ser1826Asn) c.5369G>A (p.Ser1790Asn) c.5432G>A (p.Ser1811Asn) c.5402G>A (p.Ser1801Asn) c.5474G>A (p.Ser1825Asn) | |
| 3 | g.38550842T>A | CA352140914 | SCN5A | c.5527A>T (p.Ser1843Cys) c.5530A>T (p.Ser1844Cys) c.5476A>T (p.Ser1826Cys) c.5368A>T (p.Ser1790Cys) c.5431A>T (p.Ser1811Cys) c.5401A>T (p.Ser1801Cys) c.5473A>T (p.Ser1825Cys) | |
| 3 | g.38550842T>C | CA352140916 | SCN5A | c.5527A>G (p.Ser1843Gly) c.5530A>G (p.Ser1844Gly) c.5476A>G (p.Ser1826Gly) c.5368A>G (p.Ser1790Gly) c.5431A>G (p.Ser1811Gly) c.5401A>G (p.Ser1801Gly) c.5473A>G (p.Ser1825Gly) | |
| 3 | g.38550842T>G | CA352140915 | SCN5A | c.5527A>C (p.Ser1843Arg) c.5530A>C (p.Ser1844Arg) c.5476A>C (p.Ser1826Arg) c.5368A>C (p.Ser1790Arg) c.5431A>C (p.Ser1811Arg) c.5401A>C (p.Ser1801Arg) c.5473A>C (p.Ser1825Arg) | |
| 3 | g.38550843C>A | CA433332105 | SCN5A | c.5526G>T (p.Val1842=) c.5529G>T (p.Val1843=) c.5475G>T (p.Val1825=) c.5367G>T (p.Val1789=) c.5430G>T (p.Val1810=) c.5400G>T (p.Val1800=) c.5472G>T (p.Val1824=) | |
| 3 | g.38550843C>G | CA433332106 | SCN5A | c.5526G>C (p.Val1842=) c.5529G>C (p.Val1843=) c.5475G>C (p.Val1825=) c.5367G>C (p.Val1789=) c.5430G>C (p.Val1810=) c.5400G>C (p.Val1800=) c.5472G>C (p.Val1824=) | |
| 3 | g.38550843C>T | CA433332107 | SCN5A | c.5526G>A (p.Val1842=) c.5529G>A (p.Val1843=) c.5475G>A (p.Val1825=) c.5367G>A (p.Val1789=) c.5430G>A (p.Val1810=) c.5400G>A (p.Val1800=) c.5472G>A (p.Val1824=) | |
| 3 | g.38550844A>C | CA352140917 | SCN5A | c.5525T>G (p.Val1842Gly) c.5528T>G (p.Val1843Gly) c.5474T>G (p.Val1825Gly) c.5366T>G (p.Val1789Gly) c.5429T>G (p.Val1810Gly) c.5399T>G (p.Val1800Gly) c.5471T>G (p.Val1824Gly) | |
| 3 | g.38550844A>G | CA352140918 | SCN5A | c.5525T>C (p.Val1842Ala) c.5528T>C (p.Val1843Ala) c.5474T>C (p.Val1825Ala) c.5366T>C (p.Val1789Ala) c.5429T>C (p.Val1810Ala) c.5399T>C (p.Val1800Ala) c.5471T>C (p.Val1824Ala) | |
| 3 | g.38550844A>T | CA352140919 | SCN5A | c.5525T>A (p.Val1842Glu) c.5528T>A (p.Val1843Glu) c.5474T>A (p.Val1825Glu) c.5366T>A (p.Val1789Glu) c.5429T>A (p.Val1810Glu) c.5399T>A (p.Val1800Glu) c.5471T>A (p.Val1824Glu) | |
| 3 | g.38550845C>A | CA352140920 | SCN5A | c.5524G>T (p.Val1842Leu) c.5527G>T (p.Val1843Leu) c.5473G>T (p.Val1825Leu) c.5365G>T (p.Val1789Leu) c.5428G>T (p.Val1810Leu) c.5398G>T (p.Val1800Leu) c.5470G>T (p.Val1824Leu) | ClinVar gnomAD v4 |
| 3 | g.38550845C= | CA1358556726 | SCN5A | c.5524G= (p.Val1842=) c.5527G= (p.Val1843=) c.5473G= (p.Val1825=) c.5365G= (p.Val1789=) c.5428G= (p.Val1810=) c.5398G= (p.Val1800=) c.5470G= (p.Val1824=) | |
| 3 | g.38550845C>G | CA352140921 | SCN5A | c.5524G>C (p.Val1842Leu) c.5527G>C (p.Val1843Leu) c.5473G>C (p.Val1825Leu) c.5365G>C (p.Val1789Leu) c.5428G>C (p.Val1810Leu) c.5398G>C (p.Val1800Leu) c.5470G>C (p.Val1824Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550845C>T | CA352140922 | SCN5A | c.5524G>A (p.Val1842Met) c.5527G>A (p.Val1843Met) c.5473G>A (p.Val1825Met) c.5365G>A (p.Val1789Met) c.5428G>A (p.Val1810Met) c.5398G>A (p.Val1800Met) c.5470G>A (p.Val1824Met) | |
| 3 | g.38550846C>A | CA352140923 | SCN5A | c.5523G>T (p.Met1841Ile) c.5526G>T (p.Met1842Ile) c.5472G>T (p.Met1824Ile) c.5364G>T (p.Met1788Ile) c.5427G>T (p.Met1809Ile) c.5397G>T (p.Met1799Ile) c.5469G>T (p.Met1823Ile) | gnomAD v4 |
| 3 | g.38550846C>G | CA352140924 | SCN5A | c.5523G>C (p.Met1841Ile) c.5526G>C (p.Met1842Ile) c.5472G>C (p.Met1824Ile) c.5364G>C (p.Met1788Ile) c.5427G>C (p.Met1809Ile) c.5397G>C (p.Met1799Ile) c.5469G>C (p.Met1823Ile) | |
| 3 | g.38550846C>T | CA352140925 | SCN5A | c.5523G>A (p.Met1841Ile) c.5526G>A (p.Met1842Ile) c.5472G>A (p.Met1824Ile) c.5364G>A (p.Met1788Ile) c.5427G>A (p.Met1809Ile) c.5397G>A (p.Met1799Ile) c.5469G>A (p.Met1823Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550847A= | CA1358556729 | SCN5A | c.5522T= (p.Met1841=) c.5525T= (p.Met1842=) c.5471T= (p.Met1824=) c.5363T= (p.Met1788=) c.5426T= (p.Met1809=) c.5396T= (p.Met1799=) c.5468T= (p.Met1823=) | |
| 3 | g.38550847A>C | CA352140926 | SCN5A | c.5522T>G (p.Met1841Arg) c.5525T>G (p.Met1842Arg) c.5471T>G (p.Met1824Arg) c.5363T>G (p.Met1788Arg) c.5426T>G (p.Met1809Arg) c.5396T>G (p.Met1799Arg) c.5468T>G (p.Met1823Arg) | |
| 3 | g.38550847A>G | CA064505 | SCN5A | c.5522T>C (p.Met1841Thr) c.5525T>C (p.Met1842Thr) c.5471T>C (p.Met1824Thr) c.5363T>C (p.Met1788Thr) c.5426T>C (p.Met1809Thr) c.5396T>C (p.Met1799Thr) c.5468T>C (p.Met1823Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550847A>T | CA352140927 | SCN5A | c.5522T>A (p.Met1841Lys) c.5525T>A (p.Met1842Lys) c.5471T>A (p.Met1824Lys) c.5363T>A (p.Met1788Lys) c.5426T>A (p.Met1809Lys) c.5396T>A (p.Met1799Lys) c.5468T>A (p.Met1823Lys) | |
| 3 | g.38550848T>A | CA064500 | SCN5A | c.5521A>T (p.Met1841Leu) c.5524A>T (p.Met1842Leu) c.5470A>T (p.Met1824Leu) c.5362A>T (p.Met1788Leu) c.5425A>T (p.Met1809Leu) c.5395A>T (p.Met1799Leu) c.5467A>T (p.Met1823Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>C | CA064494 | SCN5A | c.5521A>G (p.Met1841Val) c.5524A>G (p.Met1842Val) c.5470A>G (p.Met1824Val) c.5362A>G (p.Met1788Val) c.5425A>G (p.Met1809Val) c.5395A>G (p.Met1799Val) c.5467A>G (p.Met1823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>G | CA352140928 | SCN5A | c.5521A>C (p.Met1841Leu) c.5524A>C (p.Met1842Leu) c.5470A>C (p.Met1824Leu) c.5362A>C (p.Met1788Leu) c.5425A>C (p.Met1809Leu) c.5395A>C (p.Met1799Leu) c.5467A>C (p.Met1823Leu) | |
| 3 | g.38550848T= | CA1358556735 | SCN5A | c.5521A= (p.Met1841=) c.5524A= (p.Met1842=) c.5470A= (p.Met1824=) c.5362A= (p.Met1788=) c.5425A= (p.Met1809=) c.5395A= (p.Met1799=) c.5467A= (p.Met1823=) | |
| 3 | g.38550849G>A | CA433332115 | SCN5A | c.5520C>T (p.Pro1840=) c.5523C>T (p.Pro1841=) c.5469C>T (p.Pro1823=) c.5361C>T (p.Pro1787=) c.5424C>T (p.Pro1808=) c.5394C>T (p.Pro1798=) c.5466C>T (p.Pro1822=) | dbSNP gnomAD v2 |
| 3 | g.38550849G>C | CA433332116 | SCN5A | c.5520C>G (p.Pro1840=) c.5523C>G (p.Pro1841=) c.5469C>G (p.Pro1823=) c.5361C>G (p.Pro1787=) c.5424C>G (p.Pro1808=) c.5394C>G (p.Pro1798=) c.5466C>G (p.Pro1822=) | |
| 3 | g.38550849G= | CA1358556741 | SCN5A | c.5520C= (p.Pro1840=) c.5523C= (p.Pro1841=) c.5469C= (p.Pro1823=) c.5361C= (p.Pro1787=) c.5424C= (p.Pro1808=) c.5394C= (p.Pro1798=) c.5466C= (p.Pro1822=) | |
| 3 | g.38550849G>T | CA433332117 | SCN5A | c.5520C>A (p.Pro1840=) c.5523C>A (p.Pro1841=) c.5469C>A (p.Pro1823=) c.5361C>A (p.Pro1787=) c.5424C>A (p.Pro1808=) c.5394C>A (p.Pro1798=) c.5466C>A (p.Pro1822=) | |
| 3 | g.38550850G>A | CA352140930 | SCN5A | c.5519C>T (p.Pro1840Leu) c.5522C>T (p.Pro1841Leu) c.5468C>T (p.Pro1823Leu) c.5360C>T (p.Pro1787Leu) c.5423C>T (p.Pro1808Leu) c.5393C>T (p.Pro1798Leu) c.5465C>T (p.Pro1822Leu) | |
| 3 | g.38550850G>C | CA352140929 | SCN5A | c.5519C>G (p.Pro1840Arg) c.5522C>G (p.Pro1841Arg) c.5468C>G (p.Pro1823Arg) c.5360C>G (p.Pro1787Arg) c.5423C>G (p.Pro1808Arg) c.5393C>G (p.Pro1798Arg) c.5465C>G (p.Pro1822Arg) | |
| 3 | g.38550850G>T | CA352140931 | SCN5A | c.5519C>A (p.Pro1840His) c.5522C>A (p.Pro1841His) c.5468C>A (p.Pro1823His) c.5360C>A (p.Pro1787His) c.5423C>A (p.Pro1808His) c.5393C>A (p.Pro1798His) c.5465C>A (p.Pro1822His) | |
| 3 | g.38550851G>A | CA352140932 | SCN5A | c.5518C>T (p.Pro1840Ser) c.5521C>T (p.Pro1841Ser) c.5467C>T (p.Pro1823Ser) c.5359C>T (p.Pro1787Ser) c.5422C>T (p.Pro1808Ser) c.5392C>T (p.Pro1798Ser) c.5464C>T (p.Pro1822Ser) | |
| 3 | g.38550851G>C | CA352140934 | SCN5A | c.5518C>G (p.Pro1840Ala) c.5521C>G (p.Pro1841Ala) c.5467C>G (p.Pro1823Ala) c.5359C>G (p.Pro1787Ala) c.5422C>G (p.Pro1808Ala) c.5392C>G (p.Pro1798Ala) c.5464C>G (p.Pro1822Ala) | |
| 3 | g.38550851G>T | CA352140933 | SCN5A | c.5518C>A (p.Pro1840Thr) c.5521C>A (p.Pro1841Thr) c.5467C>A (p.Pro1823Thr) c.5359C>A (p.Pro1787Thr) c.5422C>A (p.Pro1808Thr) c.5392C>A (p.Pro1798Thr) c.5464C>A (p.Pro1822Thr) | |
| 3 | g.38550852C>A | CA433332124 | SCN5A | c.5517G>T (p.Leu1839=) c.5520G>T (p.Leu1840=) c.5466G>T (p.Leu1822=) c.5358G>T (p.Leu1786=) c.5421G>T (p.Leu1807=) c.5391G>T (p.Leu1797=) c.5463G>T (p.Leu1821=) | |
| 3 | g.38550852C= | CA1358556744 | SCN5A | c.5517G= (p.Leu1839=) c.5520G= (p.Leu1840=) c.5466G= (p.Leu1822=) c.5358G= (p.Leu1786=) c.5421G= (p.Leu1807=) c.5391G= (p.Leu1797=) c.5463G= (p.Leu1821=) | |
| 3 | g.38550852C>G | CA433332125 | SCN5A | c.5517G>C (p.Leu1839=) c.5520G>C (p.Leu1840=) c.5466G>C (p.Leu1822=) c.5358G>C (p.Leu1786=) c.5421G>C (p.Leu1807=) c.5391G>C (p.Leu1797=) c.5463G>C (p.Leu1821=) | gnomAD v4 |
| 3 | g.38550852C>T | CA433332126 | SCN5A | c.5517G>A (p.Leu1839=) c.5520G>A (p.Leu1840=) c.5466G>A (p.Leu1822=) c.5358G>A (p.Leu1786=) c.5421G>A (p.Leu1807=) c.5391G>A (p.Leu1797=) c.5463G>A (p.Leu1821=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550853A>C | CA352140935 | SCN5A | c.5516T>G (p.Leu1839Arg) c.5519T>G (p.Leu1840Arg) c.5465T>G (p.Leu1822Arg) c.5357T>G (p.Leu1786Arg) c.5420T>G (p.Leu1807Arg) c.5390T>G (p.Leu1797Arg) c.5462T>G (p.Leu1821Arg) | ClinVar dbSNP |
| 3 | g.38550853A>G | CA352140937 | SCN5A | c.5516T>C (p.Leu1839Pro) c.5519T>C (p.Leu1840Pro) c.5465T>C (p.Leu1822Pro) c.5357T>C (p.Leu1786Pro) c.5420T>C (p.Leu1807Pro) c.5390T>C (p.Leu1797Pro) c.5462T>C (p.Leu1821Pro) | |
| 3 | g.38550853A>T | CA352140936 | SCN5A | c.5516T>A (p.Leu1839Gln) c.5519T>A (p.Leu1840Gln) c.5465T>A (p.Leu1822Gln) c.5357T>A (p.Leu1786Gln) c.5420T>A (p.Leu1807Gln) c.5390T>A (p.Leu1797Gln) c.5462T>A (p.Leu1821Gln) | |
| 3 | g.38550854G>A | CA433332127 | SCN5A | c.5515C>T (p.Leu1839=) c.5518C>T (p.Leu1840=) c.5464C>T (p.Leu1822=) c.5356C>T (p.Leu1786=) c.5419C>T (p.Leu1807=) c.5389C>T (p.Leu1797=) c.5461C>T (p.Leu1821=) | |
| 3 | g.38550854G>C | CA352140938 | SCN5A | c.5515C>G (p.Leu1839Val) c.5518C>G (p.Leu1840Val) c.5464C>G (p.Leu1822Val) c.5356C>G (p.Leu1786Val) c.5419C>G (p.Leu1807Val) c.5389C>G (p.Leu1797Val) c.5461C>G (p.Leu1821Val) | |
| 3 | g.38550854G>T | CA352140939 | SCN5A | c.5515C>A (p.Leu1839Met) c.5518C>A (p.Leu1840Met) c.5464C>A (p.Leu1822Met) c.5356C>A (p.Leu1786Met) c.5419C>A (p.Leu1807Met) c.5389C>A (p.Leu1797Met) c.5461C>A (p.Leu1821Met) | |
| 3 | g.38550855G>A | CA433332128 | SCN5A | c.5514C>T (p.Asp1838=) c.5517C>T (p.Asp1839=) c.5463C>T (p.Asp1821=) c.5355C>T (p.Asp1785=) c.5418C>T (p.Asp1806=) c.5388C>T (p.Asp1796=) c.5460C>T (p.Asp1820=) | gnomAD v4 |
| 3 | g.38550855G>C | CA352140940 | SCN5A | c.5514C>G (p.Asp1838Glu) c.5517C>G (p.Asp1839Glu) c.5463C>G (p.Asp1821Glu) c.5355C>G (p.Asp1785Glu) c.5418C>G (p.Asp1806Glu) c.5388C>G (p.Asp1796Glu) c.5460C>G (p.Asp1820Glu) | |
| 3 | g.38550855G>T | CA352140941 | SCN5A | c.5514C>A (p.Asp1838Glu) c.5517C>A (p.Asp1839Glu) c.5463C>A (p.Asp1821Glu) c.5355C>A (p.Asp1785Glu) c.5418C>A (p.Asp1806Glu) c.5388C>A (p.Asp1796Glu) c.5460C>A (p.Asp1820Glu) |