| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550745_38550747del | CA1358556507 | SCN5A | c.5626_5628del (p.Glu1876del) c.5629_5631del (p.Glu1877del) c.5575_5577del (p.Glu1859del) c.5467_5469del (p.Glu1823del) c.5530_5532del (p.Glu1844del) c.5500_5502del (p.Glu1834del) c.5572_5574del (p.Glu1858del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550746C>A | CA352140574 | SCN5A | c.5623G>T (p.Glu1875Ter) c.5626G>T (p.Glu1876Ter) c.5572G>T (p.Glu1858Ter) c.5464G>T (p.Glu1822Ter) c.5527G>T (p.Glu1843Ter) c.5497G>T (p.Glu1833Ter) c.5569G>T (p.Glu1857Ter) | dbSNP COSMIC |
| 3 | g.38550746C= | CA1358556522 | SCN5A | c.5623G= (p.Glu1875=) c.5626G= (p.Glu1876=) c.5572G= (p.Glu1858=) c.5464G= (p.Glu1822=) c.5527G= (p.Glu1843=) c.5497G= (p.Glu1833=) c.5569G= (p.Glu1857=) | |
| 3 | g.38550746C>G | CA352140575 | SCN5A | c.5623G>C (p.Glu1875Gln) c.5626G>C (p.Glu1876Gln) c.5572G>C (p.Glu1858Gln) c.5464G>C (p.Glu1822Gln) c.5527G>C (p.Glu1843Gln) c.5497G>C (p.Glu1833Gln) c.5569G>C (p.Glu1857Gln) | |
| 3 | g.38550746C>T | CA019400 | SCN5A | c.5623G>A (p.Glu1875Lys) c.5626G>A (p.Glu1876Lys) c.5572G>A (p.Glu1858Lys) c.5464G>A (p.Glu1822Lys) c.5527G>A (p.Glu1843Lys) c.5497G>A (p.Glu1833Lys) c.5569G>A (p.Glu1857Lys) | ClinVar dbSNP |
| 3 | g.38550747C>A | CA352140578 | SCN5A | c.5622G>T (p.Met1874Ile) c.5625G>T (p.Met1875Ile) c.5571G>T (p.Met1857Ile) c.5463G>T (p.Met1821Ile) c.5526G>T (p.Met1842Ile) c.5496G>T (p.Met1832Ile) c.5568G>T (p.Met1856Ile) | gnomAD v4 |
| 3 | g.38550747C>G | CA352140580 | SCN5A | c.5622G>C (p.Met1874Ile) c.5625G>C (p.Met1875Ile) c.5571G>C (p.Met1857Ile) c.5463G>C (p.Met1821Ile) c.5526G>C (p.Met1842Ile) c.5496G>C (p.Met1832Ile) c.5568G>C (p.Met1856Ile) | |
| 3 | g.38550747C>T | CA352140582 | SCN5A | c.5622G>A (p.Met1874Ile) c.5625G>A (p.Met1875Ile) c.5571G>A (p.Met1857Ile) c.5463G>A (p.Met1821Ile) c.5526G>A (p.Met1842Ile) c.5496G>A (p.Met1832Ile) c.5568G>A (p.Met1856Ile) | |
| 3 | g.38550748_38550750dup | CA542615522 | SCN5A | c.5620_5622dup (p.Met1874_Glu1875insMet) c.5623_5625dup (p.Met1875_Glu1876insMet) c.5569_5571dup (p.Met1857_Glu1858insMet) c.5461_5463dup (p.Met1821_Glu1822insMet) c.5524_5526dup (p.Met1842_Glu1843insMet) c.5494_5496dup (p.Met1832_Glu1833insMet) c.5566_5568dup (p.Met1856_Glu1857insMet) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550748A= | CA1358556533 | SCN5A | c.5621T= (p.Met1874=) c.5624T= (p.Met1875=) c.5570T= (p.Met1857=) c.5462T= (p.Met1821=) c.5525T= (p.Met1842=) c.5495T= (p.Met1832=) c.5567T= (p.Met1856=) | |
| 3 | g.38550748A>C | CA352140585 | SCN5A | c.5621T>G (p.Met1874Arg) c.5624T>G (p.Met1875Arg) c.5570T>G (p.Met1857Arg) c.5462T>G (p.Met1821Arg) c.5525T>G (p.Met1842Arg) c.5495T>G (p.Met1832Arg) c.5567T>G (p.Met1856Arg) | |
| 3 | g.38550748A>G | CA019394 | SCN5A | c.5621T>C (p.Met1874Thr) c.5624T>C (p.Met1875Thr) c.5570T>C (p.Met1857Thr) c.5462T>C (p.Met1821Thr) c.5525T>C (p.Met1842Thr) c.5495T>C (p.Met1832Thr) c.5567T>C (p.Met1856Thr) | ClinVar dbSNP |
| 3 | g.38550748A>T | CA064572 | SCN5A | c.5621T>A (p.Met1874Lys) c.5624T>A (p.Met1875Lys) c.5570T>A (p.Met1857Lys) c.5462T>A (p.Met1821Lys) c.5525T>A (p.Met1842Lys) c.5495T>A (p.Met1832Lys) c.5567T>A (p.Met1856Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550749T>A | CA352140587 | SCN5A | c.5620A>T (p.Met1874Leu) c.5623A>T (p.Met1875Leu) c.5569A>T (p.Met1857Leu) c.5461A>T (p.Met1821Leu) c.5524A>T (p.Met1842Leu) c.5494A>T (p.Met1832Leu) c.5566A>T (p.Met1856Leu) | dbSNP |
| 3 | g.38550749T>C | CA352140589 | SCN5A | c.5620A>G (p.Met1874Val) c.5623A>G (p.Met1875Val) c.5569A>G (p.Met1857Val) c.5461A>G (p.Met1821Val) c.5524A>G (p.Met1842Val) c.5494A>G (p.Met1832Val) c.5566A>G (p.Met1856Val) | |
| 3 | g.38550749T>G | CA352140590 | SCN5A | c.5620A>C (p.Met1874Leu) c.5623A>C (p.Met1875Leu) c.5569A>C (p.Met1857Leu) c.5461A>C (p.Met1821Leu) c.5524A>C (p.Met1842Leu) c.5494A>C (p.Met1832Leu) c.5566A>C (p.Met1856Leu) | |
| 3 | g.38550750C>A | CA352140592 | SCN5A | c.5619G>T (p.Gln1873His) c.5622G>T (p.Gln1874His) c.5568G>T (p.Gln1856His) c.5460G>T (p.Gln1820His) c.5523G>T (p.Gln1841His) c.5493G>T (p.Gln1831His) c.5565G>T (p.Gln1855His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550750C= | CA1358556534 | SCN5A | c.5619G= (p.Gln1873=) c.5622G= (p.Gln1874=) c.5568G= (p.Gln1856=) c.5460G= (p.Gln1820=) c.5523G= (p.Gln1841=) c.5493G= (p.Gln1831=) c.5565G= (p.Gln1855=) | |
| 3 | g.38550750C>G | CA352140594 | SCN5A | c.5619G>C (p.Gln1873His) c.5622G>C (p.Gln1874His) c.5568G>C (p.Gln1856His) c.5460G>C (p.Gln1820His) c.5523G>C (p.Gln1841His) c.5493G>C (p.Gln1831His) c.5565G>C (p.Gln1855His) | |
| 3 | g.38550750C>T | CA433331813 | SCN5A | c.5619G>A (p.Gln1873=) c.5622G>A (p.Gln1874=) c.5568G>A (p.Gln1856=) c.5460G>A (p.Gln1820=) c.5523G>A (p.Gln1841=) c.5493G>A (p.Gln1831=) c.5565G>A (p.Gln1855=) | |
| 3 | g.38550751T>A | CA352140600 | SCN5A | c.5618A>T (p.Gln1873Leu) c.5621A>T (p.Gln1874Leu) c.5567A>T (p.Gln1856Leu) c.5459A>T (p.Gln1820Leu) c.5522A>T (p.Gln1841Leu) c.5492A>T (p.Gln1831Leu) c.5564A>T (p.Gln1855Leu) | |
| 3 | g.38550751T>C | CA352140596 | SCN5A | c.5618A>G (p.Gln1873Arg) c.5621A>G (p.Gln1874Arg) c.5567A>G (p.Gln1856Arg) c.5459A>G (p.Gln1820Arg) c.5522A>G (p.Gln1841Arg) c.5492A>G (p.Gln1831Arg) c.5564A>G (p.Gln1855Arg) | |
| 3 | g.38550751T>G | CA352140598 | SCN5A | c.5618A>C (p.Gln1873Pro) c.5621A>C (p.Gln1874Pro) c.5567A>C (p.Gln1856Pro) c.5459A>C (p.Gln1820Pro) c.5522A>C (p.Gln1841Pro) c.5492A>C (p.Gln1831Pro) c.5564A>C (p.Gln1855Pro) | |
| 3 | g.38550752G>A | CA352140602 | SCN5A | c.5617C>T (p.Gln1873Ter) c.5620C>T (p.Gln1874Ter) c.5566C>T (p.Gln1856Ter) c.5458C>T (p.Gln1820Ter) c.5521C>T (p.Gln1841Ter) c.5491C>T (p.Gln1831Ter) c.5563C>T (p.Gln1855Ter) | |
| 3 | g.38550752G>C | CA352140604 | SCN5A | c.5617C>G (p.Gln1873Glu) c.5620C>G (p.Gln1874Glu) c.5566C>G (p.Gln1856Glu) c.5458C>G (p.Gln1820Glu) c.5521C>G (p.Gln1841Glu) c.5491C>G (p.Gln1831Glu) c.5563C>G (p.Gln1855Glu) | gnomAD v4 |
| 3 | g.38550752G>T | CA352140606 | SCN5A | c.5617C>A (p.Gln1873Lys) c.5620C>A (p.Gln1874Lys) c.5566C>A (p.Gln1856Lys) c.5458C>A (p.Gln1820Lys) c.5521C>A (p.Gln1841Lys) c.5491C>A (p.Gln1831Lys) c.5563C>A (p.Gln1855Lys) | |
| 3 | g.38550753G>A | CA433331819 | SCN5A | c.5616C>T (p.Ile1872=) c.5619C>T (p.Ile1873=) c.5565C>T (p.Ile1855=) c.5457C>T (p.Ile1819=) c.5520C>T (p.Ile1840=) c.5490C>T (p.Ile1830=) c.5562C>T (p.Ile1854=) | gnomAD v4 |
| 3 | g.38550753G>C | CA352140608 | SCN5A | c.5616C>G (p.Ile1872Met) c.5619C>G (p.Ile1873Met) c.5565C>G (p.Ile1855Met) c.5457C>G (p.Ile1819Met) c.5520C>G (p.Ile1840Met) c.5490C>G (p.Ile1830Met) c.5562C>G (p.Ile1854Met) | |
| 3 | g.38550753G>T | CA433331820 | SCN5A | c.5616C>A (p.Ile1872=) c.5619C>A (p.Ile1873=) c.5565C>A (p.Ile1855=) c.5457C>A (p.Ile1819=) c.5520C>A (p.Ile1840=) c.5490C>A (p.Ile1830=) c.5562C>A (p.Ile1854=) | gnomAD v4 |
| 3 | g.38550754A>C | CA352140611 | SCN5A | c.5615T>G (p.Ile1872Ser) c.5618T>G (p.Ile1873Ser) c.5564T>G (p.Ile1855Ser) c.5456T>G (p.Ile1819Ser) c.5519T>G (p.Ile1840Ser) c.5489T>G (p.Ile1830Ser) c.5561T>G (p.Ile1854Ser) | |
| 3 | g.38550754A>G | CA352140612 | SCN5A | c.5615T>C (p.Ile1872Thr) c.5618T>C (p.Ile1873Thr) c.5564T>C (p.Ile1855Thr) c.5456T>C (p.Ile1819Thr) c.5519T>C (p.Ile1840Thr) c.5489T>C (p.Ile1830Thr) c.5561T>C (p.Ile1854Thr) | |
| 3 | g.38550754A>T | CA352140614 | SCN5A | c.5615T>A (p.Ile1872Asn) c.5618T>A (p.Ile1873Asn) c.5564T>A (p.Ile1855Asn) c.5456T>A (p.Ile1819Asn) c.5519T>A (p.Ile1840Asn) c.5489T>A (p.Ile1830Asn) c.5561T>A (p.Ile1854Asn) | |
| 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 |