| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |