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.38550603_38550606dup | CA2319533 | SCN5A | c.5765_5768dup (p.Ser1924CysfsTer20) c.5768_5771dup (p.Ser1925CysfsTer20) c.5714_5717dup (p.Ser1907CysfsTer20) c.5606_5609dup (p.Ser1871CysfsTer20) c.5669_5672dup (p.Ser1892CysfsTer20) c.5639_5642dup (p.Ser1882CysfsTer20) c.5711_5714dup (p.Ser1906CysfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550602C>A | CA352140012 | SCN5A | c.5767G>T (p.Ala1923Ser) c.5770G>T (p.Ala1924Ser) c.5716G>T (p.Ala1906Ser) c.5608G>T (p.Ala1870Ser) c.5671G>T (p.Ala1891Ser) c.5641G>T (p.Ala1881Ser) c.5713G>T (p.Ala1905Ser) | ClinVar |
| 3 | g.38550602C= | CA1358556190 | SCN5A | c.5767G= (p.Ala1923=) c.5770G= (p.Ala1924=) c.5716G= (p.Ala1906=) c.5608G= (p.Ala1870=) c.5671G= (p.Ala1891=) c.5641G= (p.Ala1881=) c.5713G= (p.Ala1905=) | |
| 3 | g.38550602C>G | CA352140011 | SCN5A | c.5767G>C (p.Ala1923Pro) c.5770G>C (p.Ala1924Pro) c.5716G>C (p.Ala1906Pro) c.5608G>C (p.Ala1870Pro) c.5671G>C (p.Ala1891Pro) c.5641G>C (p.Ala1881Pro) c.5713G>C (p.Ala1905Pro) | |
| 3 | g.38550602C>T | CA019460 | SCN5A | c.5767G>A (p.Ala1923Thr) c.5770G>A (p.Ala1924Thr) c.5716G>A (p.Ala1906Thr) c.5608G>A (p.Ala1870Thr) c.5671G>A (p.Ala1891Thr) c.5641G>A (p.Ala1881Thr) c.5713G>A (p.Ala1905Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550603A= | CA1358556193 | SCN5A | c.5766T= (p.His1922=) c.5769T= (p.His1923=) c.5715T= (p.His1905=) c.5607T= (p.His1869=) c.5670T= (p.His1890=) c.5640T= (p.His1880=) c.5712T= (p.His1904=) | |
| 3 | g.38550603A>C | CA352140014 | SCN5A | c.5766T>G (p.His1922Gln) c.5769T>G (p.His1923Gln) c.5715T>G (p.His1905Gln) c.5607T>G (p.His1869Gln) c.5670T>G (p.His1890Gln) c.5640T>G (p.His1880Gln) c.5712T>G (p.His1904Gln) | dbSNP |
| 3 | g.38550603A>G | CA433331901 | SCN5A | c.5766T>C (p.His1922=) c.5769T>C (p.His1923=) c.5715T>C (p.His1905=) c.5607T>C (p.His1869=) c.5670T>C (p.His1890=) c.5640T>C (p.His1880=) c.5712T>C (p.His1904=) | gnomAD v4 |
| 3 | g.38550603A>T | CA352140016 | SCN5A | c.5766T>A (p.His1922Gln) c.5769T>A (p.His1923Gln) c.5715T>A (p.His1905Gln) c.5607T>A (p.His1869Gln) c.5670T>A (p.His1890Gln) c.5640T>A (p.His1880Gln) c.5712T>A (p.His1904Gln) | |
| 3 | g.38550604T>A | CA352140018 | SCN5A | c.5765A>T (p.His1922Leu) c.5768A>T (p.His1923Leu) c.5714A>T (p.His1905Leu) c.5606A>T (p.His1869Leu) c.5669A>T (p.His1890Leu) c.5639A>T (p.His1880Leu) c.5711A>T (p.His1904Leu) | |
| 3 | g.38550604T>C | CA72937805 | SCN5A | c.5765A>G (p.His1922Arg) c.5768A>G (p.His1923Arg) c.5714A>G (p.His1905Arg) c.5606A>G (p.His1869Arg) c.5669A>G (p.His1890Arg) c.5639A>G (p.His1880Arg) c.5711A>G (p.His1904Arg) | dbSNP gnomAD v4 |
| 3 | g.38550604T>G | CA352140021 | SCN5A | c.5765A>C (p.His1922Pro) c.5768A>C (p.His1923Pro) c.5714A>C (p.His1905Pro) c.5606A>C (p.His1869Pro) c.5669A>C (p.His1890Pro) c.5639A>C (p.His1880Pro) c.5711A>C (p.His1904Pro) | |
| 3 | g.38550604T= | CA1358556196 | SCN5A | c.5765A= (p.His1922=) c.5768A= (p.His1923=) c.5714A= (p.His1905=) c.5606A= (p.His1869=) c.5669A= (p.His1890=) c.5639A= (p.His1880=) c.5711A= (p.His1904=) | |
| 3 | g.38550605G>A | CA064781 | SCN5A | c.5764C>T (p.His1922Tyr) c.5767C>T (p.His1923Tyr) c.5713C>T (p.His1905Tyr) c.5605C>T (p.His1869Tyr) c.5668C>T (p.His1890Tyr) c.5638C>T (p.His1880Tyr) c.5710C>T (p.His1904Tyr) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.38550605G>C | CA352140026 | SCN5A | c.5764C>G (p.His1922Asp) c.5767C>G (p.His1923Asp) c.5713C>G (p.His1905Asp) c.5605C>G (p.His1869Asp) c.5668C>G (p.His1890Asp) c.5638C>G (p.His1880Asp) c.5710C>G (p.His1904Asp) | dbSNP |
| 3 | g.38550605G= | CA1358556199 | SCN5A | c.5764C= (p.His1922=) c.5767C= (p.His1923=) c.5713C= (p.His1905=) c.5605C= (p.His1869=) c.5668C= (p.His1890=) c.5638C= (p.His1880=) c.5710C= (p.His1904=) | |
| 3 | g.38550605G>T | CA352140024 | SCN5A | c.5764C>A (p.His1922Asn) c.5767C>A (p.His1923Asn) c.5713C>A (p.His1905Asn) c.5605C>A (p.His1869Asn) c.5668C>A (p.His1890Asn) c.5638C>A (p.His1880Asn) c.5710C>A (p.His1904Asn) | |
| 3 | g.38550606C>A | CA352140027 | SCN5A | c.5763G>T (p.Lys1921Asn) c.5766G>T (p.Lys1922Asn) c.5712G>T (p.Lys1904Asn) c.5604G>T (p.Lys1868Asn) c.5667G>T (p.Lys1889Asn) c.5637G>T (p.Lys1879Asn) c.5709G>T (p.Lys1903Asn) | |
| 3 | g.38550606C= | CA1358556206 | SCN5A | c.5763G= (p.Lys1921=) c.5766G= (p.Lys1922=) c.5712G= (p.Lys1904=) c.5604G= (p.Lys1868=) c.5667G= (p.Lys1889=) c.5637G= (p.Lys1879=) c.5709G= (p.Lys1903=) | |
| 3 | g.38550606C>G | CA352140029 | SCN5A | c.5763G>C (p.Lys1921Asn) c.5766G>C (p.Lys1922Asn) c.5712G>C (p.Lys1904Asn) c.5604G>C (p.Lys1868Asn) c.5667G>C (p.Lys1889Asn) c.5637G>C (p.Lys1879Asn) c.5709G>C (p.Lys1903Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550606C>T | CA064775 | SCN5A | c.5763G>A (p.Lys1921=) c.5766G>A (p.Lys1922=) c.5712G>A (p.Lys1904=) c.5604G>A (p.Lys1868=) c.5667G>A (p.Lys1889=) c.5637G>A (p.Lys1879=) c.5709G>A (p.Lys1903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550607T>A | CA352140031 | SCN5A | c.5762A>T (p.Lys1921Met) c.5765A>T (p.Lys1922Met) c.5711A>T (p.Lys1904Met) c.5603A>T (p.Lys1868Met) c.5666A>T (p.Lys1889Met) c.5636A>T (p.Lys1879Met) c.5708A>T (p.Lys1903Met) | |
| 3 | g.38550607T>C | CA352140032 | SCN5A | c.5762A>G (p.Lys1921Arg) c.5765A>G (p.Lys1922Arg) c.5711A>G (p.Lys1904Arg) c.5603A>G (p.Lys1868Arg) c.5666A>G (p.Lys1889Arg) c.5636A>G (p.Lys1879Arg) c.5708A>G (p.Lys1903Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550607T>G | CA352140034 | SCN5A | c.5762A>C (p.Lys1921Thr) c.5765A>C (p.Lys1922Thr) c.5711A>C (p.Lys1904Thr) c.5603A>C (p.Lys1868Thr) c.5666A>C (p.Lys1889Thr) c.5636A>C (p.Lys1879Thr) c.5708A>C (p.Lys1903Thr) | |
| 3 | g.38550607T= | CA1358556212 | SCN5A | c.5762A= (p.Lys1921=) c.5765A= (p.Lys1922=) c.5711A= (p.Lys1904=) c.5603A= (p.Lys1868=) c.5666A= (p.Lys1889=) c.5636A= (p.Lys1879=) c.5708A= (p.Lys1903=) | |
| 3 | g.38550607_38550608del | CA2586965723 | SCN5A | c.5761_5762del (p.Lys1921AlafsTer21) c.5764_5765del (p.Lys1922AlafsTer21) c.5710_5711del (p.Lys1904AlafsTer21) c.5602_5603del (p.Lys1868AlafsTer21) c.5665_5666del (p.Lys1889AlafsTer21) c.5635_5636del (p.Lys1879AlafsTer21) c.5707_5708del (p.Lys1903AlafsTer21) | gnomAD v4 |
| 3 | g.38550608T>A | CA352140036 | SCN5A | c.5761A>T (p.Lys1921Ter) c.5764A>T (p.Lys1922Ter) c.5710A>T (p.Lys1904Ter) c.5602A>T (p.Lys1868Ter) c.5665A>T (p.Lys1889Ter) c.5635A>T (p.Lys1879Ter) c.5707A>T (p.Lys1903Ter) | dbSNP |
| 3 | g.38550608T>C | CA352140038 | SCN5A | c.5761A>G (p.Lys1921Glu) c.5764A>G (p.Lys1922Glu) c.5710A>G (p.Lys1904Glu) c.5602A>G (p.Lys1868Glu) c.5665A>G (p.Lys1889Glu) c.5635A>G (p.Lys1879Glu) c.5707A>G (p.Lys1903Glu) | |
| 3 | g.38550608T>G | CA352140040 | SCN5A | c.5761A>C (p.Lys1921Gln) c.5764A>C (p.Lys1922Gln) c.5710A>C (p.Lys1904Gln) c.5602A>C (p.Lys1868Gln) c.5665A>C (p.Lys1889Gln) c.5635A>C (p.Lys1879Gln) c.5707A>C (p.Lys1903Gln) | |
| 3 | g.38550608T= | CA1358556219 | SCN5A | c.5761A= (p.Lys1921=) c.5764A= (p.Lys1922=) c.5710A= (p.Lys1904=) c.5602A= (p.Lys1868=) c.5665A= (p.Lys1889=) c.5635A= (p.Lys1879=) c.5707A= (p.Lys1903=) | |
| 3 | g.38550609C>A | CA352140042 | SCN5A | c.5760G>T (p.Leu1920Phe) c.5763G>T (p.Leu1921Phe) c.5709G>T (p.Leu1903Phe) c.5601G>T (p.Leu1867Phe) c.5664G>T (p.Leu1888Phe) c.5634G>T (p.Leu1878Phe) c.5706G>T (p.Leu1902Phe) | |
| 3 | g.38550609C>G | CA352140044 | SCN5A | c.5760G>C (p.Leu1920Phe) c.5763G>C (p.Leu1921Phe) c.5709G>C (p.Leu1903Phe) c.5601G>C (p.Leu1867Phe) c.5664G>C (p.Leu1888Phe) c.5634G>C (p.Leu1878Phe) c.5706G>C (p.Leu1902Phe) | |
| 3 | g.38550609C>T | CA433331923 | SCN5A | c.5760G>A (p.Leu1920=) c.5763G>A (p.Leu1921=) c.5709G>A (p.Leu1903=) c.5601G>A (p.Leu1867=) c.5664G>A (p.Leu1888=) c.5634G>A (p.Leu1878=) c.5706G>A (p.Leu1902=) | |
| 3 | g.38550610A= | CA1358556223 | SCN5A | c.5759T= (p.Leu1920=) c.5762T= (p.Leu1921=) c.5708T= (p.Leu1903=) c.5600T= (p.Leu1867=) c.5663T= (p.Leu1888=) c.5633T= (p.Leu1878=) c.5705T= (p.Leu1902=) | |
| 3 | g.38550610A>C | CA352140048 | SCN5A | c.5759T>G (p.Leu1920Trp) c.5762T>G (p.Leu1921Trp) c.5708T>G (p.Leu1903Trp) c.5600T>G (p.Leu1867Trp) c.5663T>G (p.Leu1888Trp) c.5633T>G (p.Leu1878Trp) c.5705T>G (p.Leu1902Trp) | dbSNP |
| 3 | g.38550610A>G | CA352140049 | SCN5A | c.5759T>C (p.Leu1920Ser) c.5762T>C (p.Leu1921Ser) c.5708T>C (p.Leu1903Ser) c.5600T>C (p.Leu1867Ser) c.5663T>C (p.Leu1888Ser) c.5633T>C (p.Leu1878Ser) c.5705T>C (p.Leu1902Ser) | ClinVar |
| 3 | g.38550610A>T | CA352140046 | SCN5A | c.5759T>A (p.Leu1920Ter) c.5762T>A (p.Leu1921Ter) c.5708T>A (p.Leu1903Ter) c.5600T>A (p.Leu1867Ter) c.5663T>A (p.Leu1888Ter) c.5633T>A (p.Leu1878Ter) c.5705T>A (p.Leu1902Ter) | dbSNP |
| 3 | g.38550611A>C | CA352140051 | SCN5A | c.5758T>G (p.Leu1920Val) c.5761T>G (p.Leu1921Val) c.5707T>G (p.Leu1903Val) c.5599T>G (p.Leu1867Val) c.5662T>G (p.Leu1888Val) c.5632T>G (p.Leu1878Val) c.5704T>G (p.Leu1902Val) | |
| 3 | g.38550611A>G | CA433331925 | SCN5A | c.5758T>C (p.Leu1920=) c.5761T>C (p.Leu1921=) c.5707T>C (p.Leu1903=) c.5599T>C (p.Leu1867=) c.5662T>C (p.Leu1888=) c.5632T>C (p.Leu1878=) c.5704T>C (p.Leu1902=) | |
| 3 | g.38550611A>T | CA352140053 | SCN5A | c.5758T>A (p.Leu1920Met) c.5761T>A (p.Leu1921Met) c.5707T>A (p.Leu1903Met) c.5599T>A (p.Leu1867Met) c.5662T>A (p.Leu1888Met) c.5632T>A (p.Leu1878Met) c.5704T>A (p.Leu1902Met) | |
| 3 | g.38550612A>C | CA433331930 | SCN5A | c.5757T>G (p.Ser1919=) c.5760T>G (p.Ser1920=) c.5706T>G (p.Ser1902=) c.5598T>G (p.Ser1866=) c.5661T>G (p.Ser1887=) c.5631T>G (p.Ser1877=) c.5703T>G (p.Ser1901=) | COSMIC COSMIC COSMIC |
| 3 | g.38550612A>G | CA433331932 | SCN5A | c.5757T>C (p.Ser1919=) c.5760T>C (p.Ser1920=) c.5706T>C (p.Ser1902=) c.5598T>C (p.Ser1866=) c.5661T>C (p.Ser1887=) c.5631T>C (p.Ser1877=) c.5703T>C (p.Ser1901=) | |
| 3 | g.38550612A>T | CA433331933 | SCN5A | c.5757T>A (p.Ser1919=) c.5760T>A (p.Ser1920=) c.5706T>A (p.Ser1902=) c.5598T>A (p.Ser1866=) c.5661T>A (p.Ser1887=) c.5631T>A (p.Ser1877=) c.5703T>A (p.Ser1901=) | |
| 3 | g.38550613G>A | CA352140055 | SCN5A | c.5756C>T (p.Ser1919Phe) c.5759C>T (p.Ser1920Phe) c.5705C>T (p.Ser1902Phe) c.5597C>T (p.Ser1866Phe) c.5660C>T (p.Ser1887Phe) c.5630C>T (p.Ser1877Phe) c.5702C>T (p.Ser1901Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550613G>C | CA064767 | SCN5A | c.5756C>G (p.Ser1919Cys) c.5759C>G (p.Ser1920Cys) c.5705C>G (p.Ser1902Cys) c.5597C>G (p.Ser1866Cys) c.5660C>G (p.Ser1887Cys) c.5630C>G (p.Ser1877Cys) c.5702C>G (p.Ser1901Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550613G= | CA1358556226 | SCN5A | c.5756C= (p.Ser1919=) c.5759C= (p.Ser1920=) c.5705C= (p.Ser1902=) c.5597C= (p.Ser1866=) c.5660C= (p.Ser1887=) c.5630C= (p.Ser1877=) c.5702C= (p.Ser1901=) | |
| 3 | g.38550613G>T | CA352140057 | SCN5A | c.5756C>A (p.Ser1919Tyr) c.5759C>A (p.Ser1920Tyr) c.5705C>A (p.Ser1902Tyr) c.5597C>A (p.Ser1866Tyr) c.5660C>A (p.Ser1887Tyr) c.5630C>A (p.Ser1877Tyr) c.5702C>A (p.Ser1901Tyr) | |
| 3 | g.38550614A= | CA1358556228 | SCN5A | c.5755T= (p.Ser1919=) c.5758T= (p.Ser1920=) c.5704T= (p.Ser1902=) c.5596T= (p.Ser1866=) c.5659T= (p.Ser1887=) c.5629T= (p.Ser1877=) c.5701T= (p.Ser1901=) | |
| 3 | g.38550614A>C | CA352140059 | SCN5A | c.5755T>G (p.Ser1919Ala) c.5758T>G (p.Ser1920Ala) c.5704T>G (p.Ser1902Ala) c.5596T>G (p.Ser1866Ala) c.5659T>G (p.Ser1887Ala) c.5629T>G (p.Ser1877Ala) c.5701T>G (p.Ser1901Ala) | ClinVar dbSNP |
| 3 | g.38550614A>G | CA352140060 | SCN5A | c.5755T>C (p.Ser1919Pro) c.5758T>C (p.Ser1920Pro) c.5704T>C (p.Ser1902Pro) c.5596T>C (p.Ser1866Pro) c.5659T>C (p.Ser1887Pro) c.5629T>C (p.Ser1877Pro) c.5701T>C (p.Ser1901Pro) | ClinVar dbSNP |
| 3 | g.38550614A>T | CA352140062 | SCN5A | c.5755T>A (p.Ser1919Thr) c.5758T>A (p.Ser1920Thr) c.5704T>A (p.Ser1902Thr) c.5596T>A (p.Ser1866Thr) c.5659T>A (p.Ser1887Thr) c.5629T>A (p.Ser1877Thr) c.5701T>A (p.Ser1901Thr) | |
| 3 | g.38550615G>A | CA433331939 | SCN5A | c.5754C>T (p.Arg1918=) c.5757C>T (p.Arg1919=) c.5703C>T (p.Arg1901=) c.5595C>T (p.Arg1865=) c.5658C>T (p.Arg1886=) c.5628C>T (p.Arg1876=) c.5700C>T (p.Arg1900=) | ClinVar gnomAD v4 |
| 3 | g.38550615G>C | CA433331941 | SCN5A | c.5754C>G (p.Arg1918=) c.5757C>G (p.Arg1919=) c.5703C>G (p.Arg1901=) c.5595C>G (p.Arg1865=) c.5658C>G (p.Arg1886=) c.5628C>G (p.Arg1876=) c.5700C>G (p.Arg1900=) | |
| 3 | g.38550615G>T | CA433331942 | SCN5A | c.5754C>A (p.Arg1918=) c.5757C>A (p.Arg1919=) c.5703C>A (p.Arg1901=) c.5595C>A (p.Arg1865=) c.5658C>A (p.Arg1886=) c.5628C>A (p.Arg1876=) c.5700C>A (p.Arg1900=) | |
| 3 | g.38550616C>A | CA352140064 | SCN5A | c.5753G>T (p.Arg1918Leu) c.5756G>T (p.Arg1919Leu) c.5702G>T (p.Arg1901Leu) c.5594G>T (p.Arg1865Leu) c.5657G>T (p.Arg1886Leu) c.5627G>T (p.Arg1876Leu) c.5699G>T (p.Arg1900Leu) | |
| 3 | g.38550616C= | CA1358556232 | SCN5A | c.5753G= (p.Arg1918=) c.5756G= (p.Arg1919=) c.5702G= (p.Arg1901=) c.5594G= (p.Arg1865=) c.5657G= (p.Arg1886=) c.5627G= (p.Arg1876=) c.5699G= (p.Arg1900=) | |
| 3 | g.38550616C>G | CA352140065 | SCN5A | c.5753G>C (p.Arg1918Pro) c.5756G>C (p.Arg1919Pro) c.5702G>C (p.Arg1901Pro) c.5594G>C (p.Arg1865Pro) c.5657G>C (p.Arg1886Pro) c.5627G>C (p.Arg1876Pro) c.5699G>C (p.Arg1900Pro) | ClinVar dbSNP |
| 3 | g.38550616C>T | CA064762 | SCN5A | c.5753G>A (p.Arg1918His) c.5756G>A (p.Arg1919His) c.5702G>A (p.Arg1901His) c.5594G>A (p.Arg1865His) c.5657G>A (p.Arg1886His) c.5627G>A (p.Arg1876His) c.5699G>A (p.Arg1900His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550617G>A | CA019455 | SCN5A | c.5752C>T (p.Arg1918Cys) c.5755C>T (p.Arg1919Cys) c.5701C>T (p.Arg1901Cys) c.5593C>T (p.Arg1865Cys) c.5656C>T (p.Arg1886Cys) c.5626C>T (p.Arg1876Cys) c.5698C>T (p.Arg1900Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550617G>C | CA352140068 | SCN5A | c.5752C>G (p.Arg1918Gly) c.5755C>G (p.Arg1919Gly) c.5701C>G (p.Arg1901Gly) c.5593C>G (p.Arg1865Gly) c.5656C>G (p.Arg1886Gly) c.5626C>G (p.Arg1876Gly) c.5698C>G (p.Arg1900Gly) | |
| 3 | g.38550617G= | CA1358556241 | SCN5A | c.5752C= (p.Arg1918=) c.5755C= (p.Arg1919=) c.5701C= (p.Arg1901=) c.5593C= (p.Arg1865=) c.5656C= (p.Arg1886=) c.5626C= (p.Arg1876=) c.5698C= (p.Arg1900=) | |
| 3 | g.38550617G>T | CA352140069 | SCN5A | c.5752C>A (p.Arg1918Ser) c.5755C>A (p.Arg1919Ser) c.5701C>A (p.Arg1901Ser) c.5593C>A (p.Arg1865Ser) c.5656C>A (p.Arg1886Ser) c.5626C>A (p.Arg1876Ser) c.5698C>A (p.Arg1900Ser) | |
| 3 | g.38550618T>A | CA352140072 | SCN5A | c.5751A>T (p.Gln1917His) c.5754A>T (p.Gln1918His) c.5700A>T (p.Gln1900His) c.5592A>T (p.Gln1864His) c.5655A>T (p.Gln1885His) c.5625A>T (p.Gln1875His) c.5697A>T (p.Gln1899His) | |
| 3 | g.38550618T>C | CA433331946 | SCN5A | c.5751A>G (p.Gln1917=) c.5754A>G (p.Gln1918=) c.5700A>G (p.Gln1900=) c.5592A>G (p.Gln1864=) c.5655A>G (p.Gln1885=) c.5625A>G (p.Gln1875=) c.5697A>G (p.Gln1899=) | |
| 3 | g.38550618T>G | CA352140070 | SCN5A | c.5751A>C (p.Gln1917His) c.5754A>C (p.Gln1918His) c.5700A>C (p.Gln1900His) c.5592A>C (p.Gln1864His) c.5655A>C (p.Gln1885His) c.5625A>C (p.Gln1875His) c.5697A>C (p.Gln1899His) | |
| 3 | g.38550619T>A | CA352140074 | SCN5A | c.5750A>T (p.Gln1917Leu) c.5753A>T (p.Gln1918Leu) c.5699A>T (p.Gln1900Leu) c.5591A>T (p.Gln1864Leu) c.5654A>T (p.Gln1885Leu) c.5624A>T (p.Gln1875Leu) c.5696A>T (p.Gln1899Leu) | |
| 3 | g.38550619T>C | CA10582186 | SCN5A | c.5750A>G (p.Gln1917Arg) c.5753A>G (p.Gln1918Arg) c.5699A>G (p.Gln1900Arg) c.5591A>G (p.Gln1864Arg) c.5654A>G (p.Gln1885Arg) c.5624A>G (p.Gln1875Arg) c.5696A>G (p.Gln1899Arg) | ClinVar dbSNP |
| 3 | g.38550619T>G | CA352140076 | SCN5A | c.5750A>C (p.Gln1917Pro) c.5753A>C (p.Gln1918Pro) c.5699A>C (p.Gln1900Pro) c.5591A>C (p.Gln1864Pro) c.5654A>C (p.Gln1885Pro) c.5624A>C (p.Gln1875Pro) c.5696A>C (p.Gln1899Pro) | |
| 3 | g.38550619T= | CA1358556244 | SCN5A | c.5750A= (p.Gln1917=) c.5753A= (p.Gln1918=) c.5699A= (p.Gln1900=) c.5591A= (p.Gln1864=) c.5654A= (p.Gln1885=) c.5624A= (p.Gln1875=) c.5696A= (p.Gln1899=) | |
| 3 | g.38550620G>A | CA352140079 | SCN5A | c.5749C>T (p.Gln1917Ter) c.5752C>T (p.Gln1918Ter) c.5698C>T (p.Gln1900Ter) c.5590C>T (p.Gln1864Ter) c.5653C>T (p.Gln1885Ter) c.5623C>T (p.Gln1875Ter) c.5695C>T (p.Gln1899Ter) | |
| 3 | g.38550620G>C | CA352140081 | SCN5A | c.5749C>G (p.Gln1917Glu) c.5752C>G (p.Gln1918Glu) c.5698C>G (p.Gln1900Glu) c.5590C>G (p.Gln1864Glu) c.5653C>G (p.Gln1885Glu) c.5623C>G (p.Gln1875Glu) c.5695C>G (p.Gln1899Glu) | |
| 3 | g.38550620G>T | CA352140083 | SCN5A | c.5749C>A (p.Gln1917Lys) c.5752C>A (p.Gln1918Lys) c.5698C>A (p.Gln1900Lys) c.5590C>A (p.Gln1864Lys) c.5653C>A (p.Gln1885Lys) c.5623C>A (p.Gln1875Lys) c.5695C>A (p.Gln1899Lys) | |
| 3 | g.38550621C>A | CA433331948 | SCN5A | c.5748G>T (p.Leu1916=) c.5751G>T (p.Leu1917=) c.5697G>T (p.Leu1899=) c.5589G>T (p.Leu1863=) c.5652G>T (p.Leu1884=) c.5622G>T (p.Leu1874=) c.5694G>T (p.Leu1898=) | |
| 3 | g.38550621C>G | CA433331950 | SCN5A | c.5748G>C (p.Leu1916=) c.5751G>C (p.Leu1917=) c.5697G>C (p.Leu1899=) c.5589G>C (p.Leu1863=) c.5652G>C (p.Leu1884=) c.5622G>C (p.Leu1874=) c.5694G>C (p.Leu1898=) | |
| 3 | g.38550621C>T | CA433331951 | SCN5A | c.5748G>A (p.Leu1916=) c.5751G>A (p.Leu1917=) c.5697G>A (p.Leu1899=) c.5589G>A (p.Leu1863=) c.5652G>A (p.Leu1884=) c.5622G>A (p.Leu1874=) c.5694G>A (p.Leu1898=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550622A= | CA1358556251 | SCN5A | c.5747T= (p.Leu1916=) c.5750T= (p.Leu1917=) c.5696T= (p.Leu1899=) c.5588T= (p.Leu1863=) c.5651T= (p.Leu1884=) c.5621T= (p.Leu1874=) c.5693T= (p.Leu1898=) | |
| 3 | g.38550622A>C | CA352140085 | SCN5A | c.5747T>G (p.Leu1916Arg) c.5750T>G (p.Leu1917Arg) c.5696T>G (p.Leu1899Arg) c.5588T>G (p.Leu1863Arg) c.5651T>G (p.Leu1884Arg) c.5621T>G (p.Leu1874Arg) c.5693T>G (p.Leu1898Arg) | |
| 3 | g.38550622A>G | CA064751 | SCN5A | c.5747T>C (p.Leu1916Pro) c.5750T>C (p.Leu1917Pro) c.5696T>C (p.Leu1899Pro) c.5588T>C (p.Leu1863Pro) c.5651T>C (p.Leu1884Pro) c.5621T>C (p.Leu1874Pro) c.5693T>C (p.Leu1898Pro) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.38550622A>T | CA352140086 | SCN5A | c.5747T>A (p.Leu1916Gln) c.5750T>A (p.Leu1917Gln) c.5696T>A (p.Leu1899Gln) c.5588T>A (p.Leu1863Gln) c.5651T>A (p.Leu1884Gln) c.5621T>A (p.Leu1874Gln) c.5693T>A (p.Leu1898Gln) | |
| 3 | g.38550623G>A | CA433331955 | SCN5A | c.5746C>T (p.Leu1916=) c.5749C>T (p.Leu1917=) c.5695C>T (p.Leu1899=) c.5587C>T (p.Leu1863=) c.5650C>T (p.Leu1884=) c.5620C>T (p.Leu1874=) c.5692C>T (p.Leu1898=) | |
| 3 | g.38550623G>C | CA352140087 | SCN5A | c.5746C>G (p.Leu1916Val) c.5749C>G (p.Leu1917Val) c.5695C>G (p.Leu1899Val) c.5587C>G (p.Leu1863Val) c.5650C>G (p.Leu1884Val) c.5620C>G (p.Leu1874Val) c.5692C>G (p.Leu1898Val) | |
| 3 | g.38550623G>T | CA352140088 | SCN5A | c.5746C>A (p.Leu1916Met) c.5749C>A (p.Leu1917Met) c.5695C>A (p.Leu1899Met) c.5587C>A (p.Leu1863Met) c.5650C>A (p.Leu1884Met) c.5620C>A (p.Leu1874Met) c.5692C>A (p.Leu1898Met) | |
| 3 | g.38550624C>A | CA433331958 | SCN5A | c.5745G>T (p.Leu1915=) c.5748G>T (p.Leu1916=) c.5694G>T (p.Leu1898=) c.5586G>T (p.Leu1862=) c.5649G>T (p.Leu1883=) c.5619G>T (p.Leu1873=) c.5691G>T (p.Leu1897=) | |
| 3 | g.38550624C= | CA1358556255 | SCN5A | c.5745G= (p.Leu1915=) c.5748G= (p.Leu1916=) c.5694G= (p.Leu1898=) c.5586G= (p.Leu1862=) c.5649G= (p.Leu1883=) c.5619G= (p.Leu1873=) c.5691G= (p.Leu1897=) | |
| 3 | g.38550624C>G | CA72937826 | SCN5A | c.5745G>C (p.Leu1915=) c.5748G>C (p.Leu1916=) c.5694G>C (p.Leu1898=) c.5586G>C (p.Leu1862=) c.5649G>C (p.Leu1883=) c.5619G>C (p.Leu1873=) c.5691G>C (p.Leu1897=) | dbSNP gnomAD v4 |
| 3 | g.38550624C>T | CA433331962 | SCN5A | c.5745G>A (p.Leu1915=) c.5748G>A (p.Leu1916=) c.5694G>A (p.Leu1898=) c.5586G>A (p.Leu1862=) c.5649G>A (p.Leu1883=) c.5619G>A (p.Leu1873=) c.5691G>A (p.Leu1897=) | |
| 3 | g.38550625A>C | CA352140093 | SCN5A | c.5744T>G (p.Leu1915Arg) c.5747T>G (p.Leu1916Arg) c.5693T>G (p.Leu1898Arg) c.5585T>G (p.Leu1862Arg) c.5648T>G (p.Leu1883Arg) c.5618T>G (p.Leu1873Arg) c.5690T>G (p.Leu1897Arg) | |
| 3 | g.38550625A>G | CA352140091 | SCN5A | c.5744T>C (p.Leu1915Pro) c.5747T>C (p.Leu1916Pro) c.5693T>C (p.Leu1898Pro) c.5585T>C (p.Leu1862Pro) c.5648T>C (p.Leu1883Pro) c.5618T>C (p.Leu1873Pro) c.5690T>C (p.Leu1897Pro) | |
| 3 | g.38550625A>T | CA352140090 | SCN5A | c.5744T>A (p.Leu1915Gln) c.5747T>A (p.Leu1916Gln) c.5693T>A (p.Leu1898Gln) c.5585T>A (p.Leu1862Gln) c.5648T>A (p.Leu1883Gln) c.5618T>A (p.Leu1873Gln) c.5690T>A (p.Leu1897Gln) | |
| 3 | g.38550626G>A | CA433331964 | SCN5A | c.5743C>T (p.Leu1915=) c.5746C>T (p.Leu1916=) c.5692C>T (p.Leu1898=) c.5584C>T (p.Leu1862=) c.5647C>T (p.Leu1883=) c.5617C>T (p.Leu1873=) c.5689C>T (p.Leu1897=) | |
| 3 | g.38550626G>C | CA352140095 | SCN5A | c.5743C>G (p.Leu1915Val) c.5746C>G (p.Leu1916Val) c.5692C>G (p.Leu1898Val) c.5584C>G (p.Leu1862Val) c.5647C>G (p.Leu1883Val) c.5617C>G (p.Leu1873Val) c.5689C>G (p.Leu1897Val) | |
| 3 | g.38550626G>T | CA352140097 | SCN5A | c.5743C>A (p.Leu1915Met) c.5746C>A (p.Leu1916Met) c.5692C>A (p.Leu1898Met) c.5584C>A (p.Leu1862Met) c.5647C>A (p.Leu1883Met) c.5617C>A (p.Leu1873Met) c.5689C>A (p.Leu1897Met) | |
| 3 | g.38550627G>A | CA433331968 | SCN5A | c.5742C>T (p.His1914=) c.5745C>T (p.His1915=) c.5691C>T (p.His1897=) c.5583C>T (p.His1861=) c.5646C>T (p.His1882=) c.5616C>T (p.His1872=) c.5688C>T (p.His1896=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550627G>C | CA352140098 | SCN5A | c.5742C>G (p.His1914Gln) c.5745C>G (p.His1915Gln) c.5691C>G (p.His1897Gln) c.5583C>G (p.His1861Gln) c.5646C>G (p.His1882Gln) c.5616C>G (p.His1872Gln) c.5688C>G (p.His1896Gln) | gnomAD v4 |
| 3 | g.38550627G= | CA1358556260 | SCN5A | c.5742C= (p.His1914=) c.5745C= (p.His1915=) c.5691C= (p.His1897=) c.5583C= (p.His1861=) c.5646C= (p.His1882=) c.5616C= (p.His1872=) c.5688C= (p.His1896=) | |
| 3 | g.38550627G>T | CA352140100 | SCN5A | c.5742C>A (p.His1914Gln) c.5745C>A (p.His1915Gln) c.5691C>A (p.His1897Gln) c.5583C>A (p.His1861Gln) c.5646C>A (p.His1882Gln) c.5616C>A (p.His1872Gln) c.5688C>A (p.His1896Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550628T>A | CA352140102 | SCN5A | c.5741A>T (p.His1914Leu) c.5744A>T (p.His1915Leu) c.5690A>T (p.His1897Leu) c.5582A>T (p.His1861Leu) c.5645A>T (p.His1882Leu) c.5615A>T (p.His1872Leu) c.5687A>T (p.His1896Leu) | |
| 3 | g.38550628T>C | CA352140103 | SCN5A | c.5741A>G (p.His1914Arg) c.5744A>G (p.His1915Arg) c.5690A>G (p.His1897Arg) c.5582A>G (p.His1861Arg) c.5645A>G (p.His1882Arg) c.5615A>G (p.His1872Arg) c.5687A>G (p.His1896Arg) | |
| 3 | g.38550628T>G | CA352140105 | SCN5A | c.5741A>C (p.His1914Pro) c.5744A>C (p.His1915Pro) c.5690A>C (p.His1897Pro) c.5582A>C (p.His1861Pro) c.5645A>C (p.His1882Pro) c.5615A>C (p.His1872Pro) c.5687A>C (p.His1896Pro) | dbSNP gnomAD v2 |
| 3 | g.38550628T= | CA1358556267 | SCN5A | c.5741A= (p.His1914=) c.5744A= (p.His1915=) c.5690A= (p.His1897=) c.5582A= (p.His1861=) c.5645A= (p.His1882=) c.5615A= (p.His1872=) c.5687A= (p.His1896=) | |
| 3 | g.38550629G>A | CA064745 | SCN5A | c.5740C>T (p.His1914Tyr) c.5743C>T (p.His1915Tyr) c.5689C>T (p.His1897Tyr) c.5581C>T (p.His1861Tyr) c.5644C>T (p.His1882Tyr) c.5614C>T (p.His1872Tyr) c.5686C>T (p.His1896Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550629G>C | CA352140108 | SCN5A | c.5740C>G (p.His1914Asp) c.5743C>G (p.His1915Asp) c.5689C>G (p.His1897Asp) c.5581C>G (p.His1861Asp) c.5644C>G (p.His1882Asp) c.5614C>G (p.His1872Asp) c.5686C>G (p.His1896Asp) | |
| 3 | g.38550629G= | CA1358556270 | SCN5A | c.5740C= (p.His1914=) c.5743C= (p.His1915=) c.5689C= (p.His1897=) c.5581C= (p.His1861=) c.5644C= (p.His1882=) c.5614C= (p.His1872=) c.5686C= (p.His1896=) | |
| 3 | g.38550629G>T | CA064740 | SCN5A | c.5740C>A (p.His1914Asn) c.5743C>A (p.His1915Asn) c.5689C>A (p.His1897Asn) c.5581C>A (p.His1861Asn) c.5644C>A (p.His1882Asn) c.5614C>A (p.His1872Asn) c.5686C>A (p.His1896Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550630C>A | CA352140111 | SCN5A | c.5739G>T (p.Arg1913Ser) c.5742G>T (p.Arg1914Ser) c.5688G>T (p.Arg1896Ser) c.5580G>T (p.Arg1860Ser) c.5643G>T (p.Arg1881Ser) c.5613G>T (p.Arg1871Ser) c.5685G>T (p.Arg1895Ser) | ClinVar dbSNP |
| 3 | g.38550630C= | CA1358556273 | SCN5A | c.5739G= (p.Arg1913=) c.5742G= (p.Arg1914=) c.5688G= (p.Arg1896=) c.5580G= (p.Arg1860=) c.5643G= (p.Arg1881=) c.5613G= (p.Arg1871=) c.5685G= (p.Arg1895=) | |
| 3 | g.38550630C>G | CA352140113 | SCN5A | c.5739G>C (p.Arg1913Ser) c.5742G>C (p.Arg1914Ser) c.5688G>C (p.Arg1896Ser) c.5580G>C (p.Arg1860Ser) c.5643G>C (p.Arg1881Ser) c.5613G>C (p.Arg1871Ser) c.5685G>C (p.Arg1895Ser) | |
| 3 | g.38550630C>T | CA433331976 | SCN5A | c.5739G>A (p.Arg1913=) c.5742G>A (p.Arg1914=) c.5688G>A (p.Arg1896=) c.5580G>A (p.Arg1860=) c.5643G>A (p.Arg1881=) c.5613G>A (p.Arg1871=) c.5685G>A (p.Arg1895=) | |
| 3 | g.38550631C>A | CA352140117 | SCN5A | c.5738G>T (p.Arg1913Met) c.5741G>T (p.Arg1914Met) c.5687G>T (p.Arg1896Met) c.5579G>T (p.Arg1860Met) c.5642G>T (p.Arg1881Met) c.5612G>T (p.Arg1871Met) c.5684G>T (p.Arg1895Met) | |
| 3 | g.38550631C>G | CA352140115 | SCN5A | c.5738G>C (p.Arg1913Thr) c.5741G>C (p.Arg1914Thr) c.5687G>C (p.Arg1896Thr) c.5579G>C (p.Arg1860Thr) c.5642G>C (p.Arg1881Thr) c.5612G>C (p.Arg1871Thr) c.5684G>C (p.Arg1895Thr) | gnomAD v4 |
| 3 | g.38550631C>T | CA352140114 | SCN5A | c.5738G>A (p.Arg1913Lys) c.5741G>A (p.Arg1914Lys) c.5687G>A (p.Arg1896Lys) c.5579G>A (p.Arg1860Lys) c.5642G>A (p.Arg1881Lys) c.5612G>A (p.Arg1871Lys) c.5684G>A (p.Arg1895Lys) | gnomAD v4 |
| 3 | g.38550632T>A | CA352140118 | SCN5A | c.5737A>T (p.Arg1913Trp) c.5740A>T (p.Arg1914Trp) c.5686A>T (p.Arg1896Trp) c.5578A>T (p.Arg1860Trp) c.5641A>T (p.Arg1881Trp) c.5611A>T (p.Arg1871Trp) c.5683A>T (p.Arg1895Trp) | |
| 3 | g.38550632T>C | CA019452 | SCN5A | c.5737A>G (p.Arg1913Gly) c.5740A>G (p.Arg1914Gly) c.5686A>G (p.Arg1896Gly) c.5578A>G (p.Arg1860Gly) c.5641A>G (p.Arg1881Gly) c.5611A>G (p.Arg1871Gly) c.5683A>G (p.Arg1895Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550632T>G | CA433331977 | SCN5A | c.5737A>C (p.Arg1913=) c.5740A>C (p.Arg1914=) c.5686A>C (p.Arg1896=) c.5578A>C (p.Arg1860=) c.5641A>C (p.Arg1881=) c.5611A>C (p.Arg1871=) c.5683A>C (p.Arg1895=) | |
| 3 | g.38550632T= | CA1358556279 | SCN5A | c.5737A= (p.Arg1913=) c.5740A= (p.Arg1914=) c.5686A= (p.Arg1896=) c.5578A= (p.Arg1860=) c.5641A= (p.Arg1881=) c.5611A= (p.Arg1871=) c.5683A= (p.Arg1895=) | |
| 3 | g.38550633G>A | CA433331978 | SCN5A | c.5736C>T (p.Arg1912=) c.5739C>T (p.Arg1913=) c.5685C>T (p.Arg1895=) c.5577C>T (p.Arg1859=) c.5640C>T (p.Arg1880=) c.5610C>T (p.Arg1870=) c.5682C>T (p.Arg1894=) | |
| 3 | g.38550633G>C | CA433331980 | SCN5A | c.5736C>G (p.Arg1912=) c.5739C>G (p.Arg1913=) c.5685C>G (p.Arg1895=) c.5577C>G (p.Arg1859=) c.5640C>G (p.Arg1880=) c.5610C>G (p.Arg1870=) c.5682C>G (p.Arg1894=) | |
| 3 | g.38550633G>T | CA433331981 | SCN5A | c.5736C>A (p.Arg1912=) c.5739C>A (p.Arg1913=) c.5685C>A (p.Arg1895=) c.5577C>A (p.Arg1859=) c.5640C>A (p.Arg1880=) c.5610C>A (p.Arg1870=) c.5682C>A (p.Arg1894=) | |
| 3 | g.38550634C>A | CA352140121 | SCN5A | c.5735G>T (p.Arg1912Leu) c.5738G>T (p.Arg1913Leu) c.5684G>T (p.Arg1895Leu) c.5576G>T (p.Arg1859Leu) c.5639G>T (p.Arg1880Leu) c.5609G>T (p.Arg1870Leu) c.5681G>T (p.Arg1894Leu) | |
| 3 | g.38550634C= | CA1358556286 | SCN5A | c.5735G= (p.Arg1912=) c.5738G= (p.Arg1913=) c.5684G= (p.Arg1895=) c.5576G= (p.Arg1859=) c.5639G= (p.Arg1880=) c.5609G= (p.Arg1870=) c.5681G= (p.Arg1894=) | |
| 3 | g.38550634C>G | CA352140123 | SCN5A | c.5735G>C (p.Arg1912Pro) c.5738G>C (p.Arg1913Pro) c.5684G>C (p.Arg1895Pro) c.5576G>C (p.Arg1859Pro) c.5639G>C (p.Arg1880Pro) c.5609G>C (p.Arg1870Pro) c.5681G>C (p.Arg1894Pro) | |
| 3 | g.38550634C>T | CA019448 | SCN5A | c.5735G>A (p.Arg1912His) c.5738G>A (p.Arg1913His) c.5684G>A (p.Arg1895His) c.5576G>A (p.Arg1859His) c.5639G>A (p.Arg1880His) c.5609G>A (p.Arg1870His) c.5681G>A (p.Arg1894His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38550635G>A | CA064715 | SCN5A | c.5734C>T (p.Arg1912Cys) c.5737C>T (p.Arg1913Cys) c.5683C>T (p.Arg1895Cys) c.5575C>T (p.Arg1859Cys) c.5638C>T (p.Arg1880Cys) c.5608C>T (p.Arg1870Cys) c.5680C>T (p.Arg1894Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550635G>C | CA352140127 | SCN5A | c.5734C>G (p.Arg1912Gly) c.5737C>G (p.Arg1913Gly) c.5683C>G (p.Arg1895Gly) c.5575C>G (p.Arg1859Gly) c.5638C>G (p.Arg1880Gly) c.5608C>G (p.Arg1870Gly) c.5680C>G (p.Arg1894Gly) | |
| 3 | g.38550635G= | CA1358556290 | SCN5A | c.5734C= (p.Arg1912=) c.5737C= (p.Arg1913=) c.5683C= (p.Arg1895=) c.5575C= (p.Arg1859=) c.5638C= (p.Arg1880=) c.5608C= (p.Arg1870=) c.5680C= (p.Arg1894=) | |
| 3 | g.38550635G>T | CA352140129 | SCN5A | c.5734C>A (p.Arg1912Ser) c.5737C>A (p.Arg1913Ser) c.5683C>A (p.Arg1895Ser) c.5575C>A (p.Arg1859Ser) c.5638C>A (p.Arg1880Ser) c.5608C>A (p.Arg1870Ser) c.5680C>A (p.Arg1894Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550636G>A | CA433331984 | SCN5A | c.5733C>T (p.Phe1911=) c.5736C>T (p.Phe1912=) c.5682C>T (p.Phe1894=) c.5574C>T (p.Phe1858=) c.5637C>T (p.Phe1879=) c.5607C>T (p.Phe1869=) c.5679C>T (p.Phe1893=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550636G>C | CA352140131 | SCN5A | c.5733C>G (p.Phe1911Leu) c.5736C>G (p.Phe1912Leu) c.5682C>G (p.Phe1894Leu) c.5574C>G (p.Phe1858Leu) c.5637C>G (p.Phe1879Leu) c.5607C>G (p.Phe1869Leu) c.5679C>G (p.Phe1893Leu) | |
| 3 | g.38550636G= | CA1358556293 | SCN5A | c.5733C= (p.Phe1911=) c.5736C= (p.Phe1912=) c.5682C= (p.Phe1894=) c.5574C= (p.Phe1858=) c.5637C= (p.Phe1879=) c.5607C= (p.Phe1869=) c.5679C= (p.Phe1893=) | |
| 3 | g.38550636G>T | CA352140133 | SCN5A | c.5733C>A (p.Phe1911Leu) c.5736C>A (p.Phe1912Leu) c.5682C>A (p.Phe1894Leu) c.5574C>A (p.Phe1858Leu) c.5637C>A (p.Phe1879Leu) c.5607C>A (p.Phe1869Leu) c.5679C>A (p.Phe1893Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38550637A>C | CA352140135 | SCN5A | c.5732T>G (p.Phe1911Cys) c.5735T>G (p.Phe1912Cys) c.5681T>G (p.Phe1894Cys) c.5573T>G (p.Phe1858Cys) c.5636T>G (p.Phe1879Cys) c.5606T>G (p.Phe1869Cys) c.5678T>G (p.Phe1893Cys) | |
| 3 | g.38550637A>G | CA352140136 | SCN5A | c.5732T>C (p.Phe1911Ser) c.5735T>C (p.Phe1912Ser) c.5681T>C (p.Phe1894Ser) c.5573T>C (p.Phe1858Ser) c.5636T>C (p.Phe1879Ser) c.5606T>C (p.Phe1869Ser) c.5678T>C (p.Phe1893Ser) | |
| 3 | g.38550637A>T | CA352140138 | SCN5A | c.5732T>A (p.Phe1911Tyr) c.5735T>A (p.Phe1912Tyr) c.5681T>A (p.Phe1894Tyr) c.5573T>A (p.Phe1858Tyr) c.5636T>A (p.Phe1879Tyr) c.5606T>A (p.Phe1869Tyr) c.5678T>A (p.Phe1893Tyr) | |
| 3 | g.38550638A>C | CA352140142 | SCN5A | c.5731T>G (p.Phe1911Val) c.5734T>G (p.Phe1912Val) c.5680T>G (p.Phe1894Val) c.5572T>G (p.Phe1858Val) c.5635T>G (p.Phe1879Val) c.5605T>G (p.Phe1869Val) c.5677T>G (p.Phe1893Val) | |
| 3 | g.38550638A>G | CA352140143 | SCN5A | c.5731T>C (p.Phe1911Leu) c.5734T>C (p.Phe1912Leu) c.5680T>C (p.Phe1894Leu) c.5572T>C (p.Phe1858Leu) c.5635T>C (p.Phe1879Leu) c.5605T>C (p.Phe1869Leu) c.5677T>C (p.Phe1893Leu) | |
| 3 | g.38550638A>T | CA352140140 | SCN5A | c.5731T>A (p.Phe1911Ile) c.5734T>A (p.Phe1912Ile) c.5680T>A (p.Phe1894Ile) c.5572T>A (p.Phe1858Ile) c.5635T>A (p.Phe1879Ile) c.5605T>A (p.Phe1869Ile) c.5677T>A (p.Phe1893Ile) | |
| 3 | g.38550639G>A | CA064709 | SCN5A | c.5730C>T (p.Ala1910=) c.5733C>T (p.Ala1911=) c.5679C>T (p.Ala1893=) c.5571C>T (p.Ala1857=) c.5634C>T (p.Ala1878=) c.5604C>T (p.Ala1868=) c.5676C>T (p.Ala1892=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550639G>C | CA433331989 | SCN5A | c.5730C>G (p.Ala1910=) c.5733C>G (p.Ala1911=) c.5679C>G (p.Ala1893=) c.5571C>G (p.Ala1857=) c.5634C>G (p.Ala1878=) c.5604C>G (p.Ala1868=) c.5676C>G (p.Ala1892=) | |
| 3 | g.38550639G= | CA1358556297 | SCN5A | c.5730C= (p.Ala1910=) c.5733C= (p.Ala1911=) c.5679C= (p.Ala1893=) c.5571C= (p.Ala1857=) c.5634C= (p.Ala1878=) c.5604C= (p.Ala1868=) c.5676C= (p.Ala1892=) | |
| 3 | g.38550639G>T | CA433331986 | SCN5A | c.5730C>A (p.Ala1910=) c.5733C>A (p.Ala1911=) c.5679C>A (p.Ala1893=) c.5571C>A (p.Ala1857=) c.5634C>A (p.Ala1878=) c.5604C>A (p.Ala1868=) c.5676C>A (p.Ala1892=) | |
| 3 | g.38550640G>A | CA352140146 | SCN5A | c.5729C>T (p.Ala1910Val) c.5732C>T (p.Ala1911Val) c.5678C>T (p.Ala1893Val) c.5570C>T (p.Ala1857Val) c.5633C>T (p.Ala1878Val) c.5603C>T (p.Ala1868Val) c.5675C>T (p.Ala1892Val) | |
| 3 | g.38550640G>C | CA352140149 | SCN5A | c.5729C>G (p.Ala1910Gly) c.5732C>G (p.Ala1911Gly) c.5678C>G (p.Ala1893Gly) c.5570C>G (p.Ala1857Gly) c.5633C>G (p.Ala1878Gly) c.5603C>G (p.Ala1868Gly) c.5675C>G (p.Ala1892Gly) | ClinVar dbSNP |
| 3 | g.38550640G>T | CA352140147 | SCN5A | c.5729C>A (p.Ala1910Asp) c.5732C>A (p.Ala1911Asp) c.5678C>A (p.Ala1893Asp) c.5570C>A (p.Ala1857Asp) c.5633C>A (p.Ala1878Asp) c.5603C>A (p.Ala1868Asp) c.5675C>A (p.Ala1892Asp) | |
| 3 | g.38550641C>A | CA352140152 | SCN5A | c.5728G>T (p.Ala1910Ser) c.5731G>T (p.Ala1911Ser) c.5677G>T (p.Ala1893Ser) c.5569G>T (p.Ala1857Ser) c.5632G>T (p.Ala1878Ser) c.5602G>T (p.Ala1868Ser) c.5674G>T (p.Ala1892Ser) | |
| 3 | g.38550641C>G | CA352140156 | SCN5A | c.5728G>C (p.Ala1910Pro) c.5731G>C (p.Ala1911Pro) c.5677G>C (p.Ala1893Pro) c.5569G>C (p.Ala1857Pro) c.5632G>C (p.Ala1878Pro) c.5602G>C (p.Ala1868Pro) c.5674G>C (p.Ala1892Pro) | |
| 3 | g.38550641C>T | CA352140153 | SCN5A | c.5728G>A (p.Ala1910Thr) c.5731G>A (p.Ala1911Thr) c.5677G>A (p.Ala1893Thr) c.5569G>A (p.Ala1857Thr) c.5632G>A (p.Ala1878Thr) c.5602G>A (p.Ala1868Thr) c.5674G>A (p.Ala1892Thr) | |
| 3 | g.38550642T>A | CA352140158 | SCN5A | c.5727A>T (p.Arg1909Ser) c.5730A>T (p.Arg1910Ser) c.5676A>T (p.Arg1892Ser) c.5568A>T (p.Arg1856Ser) c.5631A>T (p.Arg1877Ser) c.5601A>T (p.Arg1867Ser) c.5673A>T (p.Arg1891Ser) | |
| 3 | g.38550642T>C | CA433331994 | SCN5A | c.5727A>G (p.Arg1909=) c.5730A>G (p.Arg1910=) c.5676A>G (p.Arg1892=) c.5568A>G (p.Arg1856=) c.5631A>G (p.Arg1877=) c.5601A>G (p.Arg1867=) c.5673A>G (p.Arg1891=) | ClinVar |
| 3 | g.38550642T>G | CA352140160 | SCN5A | c.5727A>C (p.Arg1909Ser) c.5730A>C (p.Arg1910Ser) c.5676A>C (p.Arg1892Ser) c.5568A>C (p.Arg1856Ser) c.5631A>C (p.Arg1877Ser) c.5601A>C (p.Arg1867Ser) c.5673A>C (p.Arg1891Ser) | gnomAD v4 |
| 3 | g.38550643C>A | CA352140162 | SCN5A | c.5726G>T (p.Arg1909Ile) c.5729G>T (p.Arg1910Ile) c.5675G>T (p.Arg1892Ile) c.5567G>T (p.Arg1856Ile) c.5630G>T (p.Arg1877Ile) c.5600G>T (p.Arg1867Ile) c.5672G>T (p.Arg1891Ile) | |
| 3 | g.38550643C= | CA1358556301 | SCN5A | c.5726G= (p.Arg1909=) c.5729G= (p.Arg1910=) c.5675G= (p.Arg1892=) c.5567G= (p.Arg1856=) c.5630G= (p.Arg1877=) c.5600G= (p.Arg1867=) c.5672G= (p.Arg1891=) | |
| 3 | g.38550643C>G | CA352140164 | SCN5A | c.5726G>C (p.Arg1909Thr) c.5729G>C (p.Arg1910Thr) c.5675G>C (p.Arg1892Thr) c.5567G>C (p.Arg1856Thr) c.5630G>C (p.Arg1877Thr) c.5600G>C (p.Arg1867Thr) c.5672G>C (p.Arg1891Thr) | |
| 3 | g.38550643C>T | CA16611258 | SCN5A | c.5726G>A (p.Arg1909Lys) c.5729G>A (p.Arg1910Lys) c.5675G>A (p.Arg1892Lys) c.5567G>A (p.Arg1856Lys) c.5630G>A (p.Arg1877Lys) c.5600G>A (p.Arg1867Lys) c.5672G>A (p.Arg1891Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550644T>A | CA352140166 | SCN5A | c.5725A>T (p.Arg1909Ter) c.5728A>T (p.Arg1910Ter) c.5674A>T (p.Arg1892Ter) c.5566A>T (p.Arg1856Ter) c.5629A>T (p.Arg1877Ter) c.5599A>T (p.Arg1867Ter) c.5671A>T (p.Arg1891Ter) | |
| 3 | g.38550644T>C | CA352140168 | SCN5A | c.5725A>G (p.Arg1909Gly) c.5728A>G (p.Arg1910Gly) c.5674A>G (p.Arg1892Gly) c.5566A>G (p.Arg1856Gly) c.5629A>G (p.Arg1877Gly) c.5599A>G (p.Arg1867Gly) c.5671A>G (p.Arg1891Gly) | |
| 3 | g.38550644T>G | CA433331996 | SCN5A | c.5725A>C (p.Arg1909=) c.5728A>C (p.Arg1910=) c.5674A>C (p.Arg1892=) c.5566A>C (p.Arg1856=) c.5629A>C (p.Arg1877=) c.5599A>C (p.Arg1867=) c.5671A>C (p.Arg1891=) | |
| 3 | g.38550645C>A | CA352140170 | SCN5A | c.5724G>T (p.Gln1908His) c.5727G>T (p.Gln1909His) c.5673G>T (p.Gln1891His) c.5565G>T (p.Gln1855His) c.5628G>T (p.Gln1876His) c.5598G>T (p.Gln1866His) c.5670G>T (p.Gln1890His) | |
| 3 | g.38550645C= | CA1358556305 | SCN5A | c.5724G= (p.Gln1908=) c.5727G= (p.Gln1909=) c.5673G= (p.Gln1891=) c.5565G= (p.Gln1855=) c.5628G= (p.Gln1876=) c.5598G= (p.Gln1866=) c.5670G= (p.Gln1890=) | |
| 3 | g.38550645C>G | CA352140172 | SCN5A | c.5724G>C (p.Gln1908His) c.5727G>C (p.Gln1909His) c.5673G>C (p.Gln1891His) c.5565G>C (p.Gln1855His) c.5628G>C (p.Gln1876His) c.5598G>C (p.Gln1866His) c.5670G>C (p.Gln1890His) | |
| 3 | g.38550645C>T | CA433331998 | SCN5A | c.5724G>A (p.Gln1908=) c.5727G>A (p.Gln1909=) c.5673G>A (p.Gln1891=) c.5565G>A (p.Gln1855=) c.5628G>A (p.Gln1876=) c.5598G>A (p.Gln1866=) c.5670G>A (p.Gln1890=) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550646T>A | CA352140174 | SCN5A | c.5723A>T (p.Gln1908Leu) c.5726A>T (p.Gln1909Leu) c.5672A>T (p.Gln1891Leu) c.5564A>T (p.Gln1855Leu) c.5627A>T (p.Gln1876Leu) c.5597A>T (p.Gln1866Leu) c.5669A>T (p.Gln1890Leu) | |
| 3 | g.38550646T>C | CA019443 | SCN5A | c.5723A>G (p.Gln1908Arg) c.5726A>G (p.Gln1909Arg) c.5672A>G (p.Gln1891Arg) c.5564A>G (p.Gln1855Arg) c.5627A>G (p.Gln1876Arg) c.5597A>G (p.Gln1866Arg) c.5669A>G (p.Gln1890Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550646T>G | CA352140177 | SCN5A | c.5723A>C (p.Gln1908Pro) c.5726A>C (p.Gln1909Pro) c.5672A>C (p.Gln1891Pro) c.5564A>C (p.Gln1855Pro) c.5627A>C (p.Gln1876Pro) c.5597A>C (p.Gln1866Pro) c.5669A>C (p.Gln1890Pro) | |
| 3 | g.38550646T= | CA1358556311 | SCN5A | c.5723A= (p.Gln1908=) c.5726A= (p.Gln1909=) c.5672A= (p.Gln1891=) c.5564A= (p.Gln1855=) c.5627A= (p.Gln1876=) c.5597A= (p.Gln1866=) c.5669A= (p.Gln1890=) | |
| 3 | g.38550647G>A | CA352140185 | SCN5A | c.5722C>T (p.Gln1908Ter) c.5725C>T (p.Gln1909Ter) c.5671C>T (p.Gln1891Ter) c.5563C>T (p.Gln1855Ter) c.5626C>T (p.Gln1876Ter) c.5596C>T (p.Gln1866Ter) c.5668C>T (p.Gln1890Ter) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550647G>C | CA352140183 | SCN5A | c.5722C>G (p.Gln1908Glu) c.5725C>G (p.Gln1909Glu) c.5671C>G (p.Gln1891Glu) c.5563C>G (p.Gln1855Glu) c.5626C>G (p.Gln1876Glu) c.5596C>G (p.Gln1866Glu) c.5668C>G (p.Gln1890Glu) | |
| 3 | g.38550647G>T | CA352140181 | SCN5A | c.5722C>A (p.Gln1908Lys) c.5725C>A (p.Gln1909Lys) c.5671C>A (p.Gln1891Lys) c.5563C>A (p.Gln1855Lys) c.5626C>A (p.Gln1876Lys) c.5596C>A (p.Gln1866Lys) c.5668C>A (p.Gln1890Lys) | |
| 3 | g.38550648G>A | CA433332001 | SCN5A | c.5721C>T (p.Ile1907=) c.5724C>T (p.Ile1908=) c.5670C>T (p.Ile1890=) c.5562C>T (p.Ile1854=) c.5625C>T (p.Ile1875=) c.5595C>T (p.Ile1865=) c.5667C>T (p.Ile1889=) | gnomAD v4 |
| 3 | g.38550648G>C | CA352140187 | SCN5A | c.5721C>G (p.Ile1907Met) c.5724C>G (p.Ile1908Met) c.5670C>G (p.Ile1890Met) c.5562C>G (p.Ile1854Met) c.5625C>G (p.Ile1875Met) c.5595C>G (p.Ile1865Met) c.5667C>G (p.Ile1889Met) | |
| 3 | g.38550648G>T | CA433332002 | SCN5A | c.5721C>A (p.Ile1907=) c.5724C>A (p.Ile1908=) c.5670C>A (p.Ile1890=) c.5562C>A (p.Ile1854=) c.5625C>A (p.Ile1875=) c.5595C>A (p.Ile1865=) c.5667C>A (p.Ile1889=) | |
| 3 | g.38550649A>C | CA352140188 | SCN5A | c.5720T>G (p.Ile1907Ser) c.5723T>G (p.Ile1908Ser) c.5669T>G (p.Ile1890Ser) c.5561T>G (p.Ile1854Ser) c.5624T>G (p.Ile1875Ser) c.5594T>G (p.Ile1865Ser) c.5666T>G (p.Ile1889Ser) | |
| 3 | g.38550649A>G | CA352140190 | SCN5A | c.5720T>C (p.Ile1907Thr) c.5723T>C (p.Ile1908Thr) c.5669T>C (p.Ile1890Thr) c.5561T>C (p.Ile1854Thr) c.5624T>C (p.Ile1875Thr) c.5594T>C (p.Ile1865Thr) c.5666T>C (p.Ile1889Thr) | gnomAD v4 |
| 3 | g.38550649A>T | CA352140192 | SCN5A | c.5720T>A (p.Ile1907Asn) c.5723T>A (p.Ile1908Asn) c.5669T>A (p.Ile1890Asn) c.5561T>A (p.Ile1854Asn) c.5624T>A (p.Ile1875Asn) c.5594T>A (p.Ile1865Asn) c.5666T>A (p.Ile1889Asn) | |
| 3 | g.38550650T>A | CA352140194 | SCN5A | c.5719A>T (p.Ile1907Phe) c.5722A>T (p.Ile1908Phe) c.5668A>T (p.Ile1890Phe) c.5560A>T (p.Ile1854Phe) c.5623A>T (p.Ile1875Phe) c.5593A>T (p.Ile1865Phe) c.5665A>T (p.Ile1889Phe) | |
| 3 | g.38550650T>C | CA064703 | SCN5A | c.5719A>G (p.Ile1907Val) c.5722A>G (p.Ile1908Val) c.5668A>G (p.Ile1890Val) c.5560A>G (p.Ile1854Val) c.5623A>G (p.Ile1875Val) c.5593A>G (p.Ile1865Val) c.5665A>G (p.Ile1889Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550650T>G | CA352140196 | SCN5A | c.5719A>C (p.Ile1907Leu) c.5722A>C (p.Ile1908Leu) c.5668A>C (p.Ile1890Leu) c.5560A>C (p.Ile1854Leu) c.5623A>C (p.Ile1875Leu) c.5593A>C (p.Ile1865Leu) c.5665A>C (p.Ile1889Leu) | |
| 3 | g.38550650T= | CA1358556316 | SCN5A | c.5719A= (p.Ile1907=) c.5722A= (p.Ile1908=) c.5668A= (p.Ile1890=) c.5560A= (p.Ile1854=) c.5623A= (p.Ile1875=) c.5593A= (p.Ile1865=) c.5665A= (p.Ile1889=) | |
| 3 | g.38550651A= | CA1358556321 | SCN5A | c.5718T= (p.Val1906=) c.5721T= (p.Val1907=) c.5667T= (p.Val1889=) c.5559T= (p.Val1853=) c.5622T= (p.Val1874=) c.5592T= (p.Val1864=) c.5664T= (p.Val1888=) | |
| 3 | g.38550651A>C | CA433332005 | SCN5A | c.5718T>G (p.Val1906=) c.5721T>G (p.Val1907=) c.5667T>G (p.Val1889=) c.5559T>G (p.Val1853=) c.5622T>G (p.Val1874=) c.5592T>G (p.Val1864=) c.5664T>G (p.Val1888=) | |
| 3 | g.38550651A>G | CA433332006 | SCN5A | c.5718T>C (p.Val1906=) c.5721T>C (p.Val1907=) c.5667T>C (p.Val1889=) c.5559T>C (p.Val1853=) c.5622T>C (p.Val1874=) c.5592T>C (p.Val1864=) c.5664T>C (p.Val1888=) | ClinVar dbSNP |
| 3 | g.38550651A>T | CA433332007 | SCN5A | c.5718T>A (p.Val1906=) c.5721T>A (p.Val1907=) c.5667T>A (p.Val1889=) c.5559T>A (p.Val1853=) c.5622T>A (p.Val1874=) c.5592T>A (p.Val1864=) c.5664T>A (p.Val1888=) | |
| 3 | g.38550652A>C | CA352140198 | SCN5A | c.5717T>G (p.Val1906Gly) c.5720T>G (p.Val1907Gly) c.5666T>G (p.Val1889Gly) c.5558T>G (p.Val1853Gly) c.5621T>G (p.Val1874Gly) c.5591T>G (p.Val1864Gly) c.5663T>G (p.Val1888Gly) | |
| 3 | g.38550652A>G | CA352140200 | SCN5A | c.5717T>C (p.Val1906Ala) c.5720T>C (p.Val1907Ala) c.5666T>C (p.Val1889Ala) c.5558T>C (p.Val1853Ala) c.5621T>C (p.Val1874Ala) c.5591T>C (p.Val1864Ala) c.5663T>C (p.Val1888Ala) | |
| 3 | g.38550652A>T | CA352140201 | SCN5A | c.5717T>A (p.Val1906Asp) c.5720T>A (p.Val1907Asp) c.5666T>A (p.Val1889Asp) c.5558T>A (p.Val1853Asp) c.5621T>A (p.Val1874Asp) c.5591T>A (p.Val1864Asp) c.5663T>A (p.Val1888Asp) | |
| 3 | g.38550653C>A | CA352140204 | SCN5A | c.5716G>T (p.Val1906Phe) c.5719G>T (p.Val1907Phe) c.5665G>T (p.Val1889Phe) c.5557G>T (p.Val1853Phe) c.5620G>T (p.Val1874Phe) c.5590G>T (p.Val1864Phe) c.5662G>T (p.Val1888Phe) | |
| 3 | g.38550653C>G | CA352140205 | SCN5A | c.5716G>C (p.Val1906Leu) c.5719G>C (p.Val1907Leu) c.5665G>C (p.Val1889Leu) c.5557G>C (p.Val1853Leu) c.5620G>C (p.Val1874Leu) c.5590G>C (p.Val1864Leu) c.5662G>C (p.Val1888Leu) | |
| 3 | g.38550653C>T | CA352140207 | SCN5A | c.5716G>A (p.Val1906Ile) c.5719G>A (p.Val1907Ile) c.5665G>A (p.Val1889Ile) c.5557G>A (p.Val1853Ile) c.5620G>A (p.Val1874Ile) c.5590G>A (p.Val1864Ile) c.5662G>A (p.Val1888Ile) | |
| 3 | g.38550654C>A | CA352140211 | SCN5A | c.5715G>T (p.Met1905Ile) c.5718G>T (p.Met1906Ile) c.5664G>T (p.Met1888Ile) c.5556G>T (p.Met1852Ile) c.5619G>T (p.Met1873Ile) c.5589G>T (p.Met1863Ile) c.5661G>T (p.Met1887Ile) | |
| 3 | g.38550654C>G | CA352140213 | SCN5A | c.5715G>C (p.Met1905Ile) c.5718G>C (p.Met1906Ile) c.5664G>C (p.Met1888Ile) c.5556G>C (p.Met1852Ile) c.5619G>C (p.Met1873Ile) c.5589G>C (p.Met1863Ile) c.5661G>C (p.Met1887Ile) | |
| 3 | g.38550654C>T | CA352140210 | SCN5A | c.5715G>A (p.Met1905Ile) c.5718G>A (p.Met1906Ile) c.5664G>A (p.Met1888Ile) c.5556G>A (p.Met1852Ile) c.5619G>A (p.Met1873Ile) c.5589G>A (p.Met1863Ile) c.5661G>A (p.Met1887Ile) | |
| 3 | g.38550655A= | CA1358556324 | SCN5A | c.5714T= (p.Met1905=) c.5717T= (p.Met1906=) c.5663T= (p.Met1888=) c.5555T= (p.Met1852=) c.5618T= (p.Met1873=) c.5588T= (p.Met1863=) c.5660T= (p.Met1887=) | |
| 3 | g.38550655A>C | CA352140215 | SCN5A | c.5714T>G (p.Met1905Arg) c.5717T>G (p.Met1906Arg) c.5663T>G (p.Met1888Arg) c.5555T>G (p.Met1852Arg) c.5618T>G (p.Met1873Arg) c.5588T>G (p.Met1863Arg) c.5660T>G (p.Met1887Arg) | |
| 3 | g.38550655A>G | CA064697 | SCN5A | c.5714T>C (p.Met1905Thr) c.5717T>C (p.Met1906Thr) c.5663T>C (p.Met1888Thr) c.5555T>C (p.Met1852Thr) c.5618T>C (p.Met1873Thr) c.5588T>C (p.Met1863Thr) c.5660T>C (p.Met1887Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550655A>T | CA352140218 | SCN5A | c.5714T>A (p.Met1905Lys) c.5717T>A (p.Met1906Lys) c.5663T>A (p.Met1888Lys) c.5555T>A (p.Met1852Lys) c.5618T>A (p.Met1873Lys) c.5588T>A (p.Met1863Lys) c.5660T>A (p.Met1887Lys) | |
| 3 | g.38550656T>A | CA352140219 | SCN5A | c.5713A>T (p.Met1905Leu) c.5716A>T (p.Met1906Leu) c.5662A>T (p.Met1888Leu) c.5554A>T (p.Met1852Leu) c.5617A>T (p.Met1873Leu) c.5587A>T (p.Met1863Leu) c.5659A>T (p.Met1887Leu) | |
| 3 | g.38550656T>C | CA72937834 | SCN5A | c.5713A>G (p.Met1905Val) c.5716A>G (p.Met1906Val) c.5662A>G (p.Met1888Val) c.5554A>G (p.Met1852Val) c.5617A>G (p.Met1873Val) c.5587A>G (p.Met1863Val) c.5659A>G (p.Met1887Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550656T>G | CA352140221 | SCN5A | c.5713A>C (p.Met1905Leu) c.5716A>C (p.Met1906Leu) c.5662A>C (p.Met1888Leu) c.5554A>C (p.Met1852Leu) c.5617A>C (p.Met1873Leu) c.5587A>C (p.Met1863Leu) c.5659A>C (p.Met1887Leu) | |
| 3 | g.38550656T= | CA1358556327 | SCN5A | c.5713A= (p.Met1905=) c.5716A= (p.Met1906=) c.5662A= (p.Met1888=) c.5554A= (p.Met1852=) c.5617A= (p.Met1873=) c.5587A= (p.Met1863=) c.5659A= (p.Met1887=) | |
| 3 | g.38550657G>A | CA433332011 | SCN5A | c.5712C>T (p.Ala1904=) c.5715C>T (p.Ala1905=) c.5661C>T (p.Ala1887=) c.5553C>T (p.Ala1851=) c.5616C>T (p.Ala1872=) c.5586C>T (p.Ala1862=) c.5658C>T (p.Ala1886=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550657G>C | CA433332012 | SCN5A | c.5712C>G (p.Ala1904=) c.5715C>G (p.Ala1905=) c.5661C>G (p.Ala1887=) c.5553C>G (p.Ala1851=) c.5616C>G (p.Ala1872=) c.5586C>G (p.Ala1862=) c.5658C>G (p.Ala1886=) | |
| 3 | g.38550657G= | CA1358556333 | SCN5A | c.5712C= (p.Ala1904=) c.5715C= (p.Ala1905=) c.5661C= (p.Ala1887=) c.5553C= (p.Ala1851=) c.5616C= (p.Ala1872=) c.5586C= (p.Ala1862=) c.5658C= (p.Ala1886=) | |
| 3 | g.38550657G>T | CA433332014 | SCN5A | c.5712C>A (p.Ala1904=) c.5715C>A (p.Ala1905=) c.5661C>A (p.Ala1887=) c.5553C>A (p.Ala1851=) c.5616C>A (p.Ala1872=) c.5586C>A (p.Ala1862=) c.5658C>A (p.Ala1886=) | |
| 3 | g.38550658del | CA2544301482 | SCN5A | c.5712del (p.Met1905TrpfsTer16) c.5715del (p.Met1906TrpfsTer16) c.5661del (p.Met1888TrpfsTer16) c.5553del (p.Met1852TrpfsTer16) c.5616del (p.Met1873TrpfsTer16) c.5586del (p.Met1863TrpfsTer16) c.5658del (p.Met1887TrpfsTer16) | |
| 3 | g.38550658G>A | CA352140223 | SCN5A | c.5711C>T (p.Ala1904Val) c.5714C>T (p.Ala1905Val) c.5660C>T (p.Ala1887Val) c.5552C>T (p.Ala1851Val) c.5615C>T (p.Ala1872Val) c.5585C>T (p.Ala1862Val) c.5657C>T (p.Ala1886Val) | |
| 3 | g.38550658G>C | CA352140224 | SCN5A | c.5711C>G (p.Ala1904Gly) c.5714C>G (p.Ala1905Gly) c.5660C>G (p.Ala1887Gly) c.5552C>G (p.Ala1851Gly) c.5615C>G (p.Ala1872Gly) c.5585C>G (p.Ala1862Gly) c.5657C>G (p.Ala1886Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550658G>T | CA352140225 | SCN5A | c.5711C>A (p.Ala1904Asp) c.5714C>A (p.Ala1905Asp) c.5660C>A (p.Ala1887Asp) c.5552C>A (p.Ala1851Asp) c.5615C>A (p.Ala1872Asp) c.5585C>A (p.Ala1862Asp) c.5657C>A (p.Ala1886Asp) | |
| 3 | g.38550659C>A | CA352140227 | SCN5A | c.5710G>T (p.Ala1904Ser) c.5713G>T (p.Ala1905Ser) c.5659G>T (p.Ala1887Ser) c.5551G>T (p.Ala1851Ser) c.5614G>T (p.Ala1872Ser) c.5584G>T (p.Ala1862Ser) c.5656G>T (p.Ala1886Ser) | |
| 3 | g.38550659C>G | CA352140229 | SCN5A | c.5710G>C (p.Ala1904Pro) c.5713G>C (p.Ala1905Pro) c.5659G>C (p.Ala1887Pro) c.5551G>C (p.Ala1851Pro) c.5614G>C (p.Ala1872Pro) c.5584G>C (p.Ala1862Pro) c.5656G>C (p.Ala1886Pro) | |
| 3 | g.38550659C>T | CA352140231 | SCN5A | c.5710G>A (p.Ala1904Thr) c.5713G>A (p.Ala1905Thr) c.5659G>A (p.Ala1887Thr) c.5551G>A (p.Ala1851Thr) c.5614G>A (p.Ala1872Thr) c.5584G>A (p.Ala1862Thr) c.5656G>A (p.Ala1886Thr) | COSMIC COSMIC COSMIC |
| 3 | g.38550660C>A | CA433331563 | SCN5A | c.5709G>T (p.Ser1903=) c.5712G>T (p.Ser1904=) c.5658G>T (p.Ser1886=) c.5550G>T (p.Ser1850=) c.5613G>T (p.Ser1871=) c.5583G>T (p.Ser1861=) c.5655G>T (p.Ser1885=) | gnomAD v4 |
| 3 | g.38550660C= | CA1358556338 | SCN5A | c.5709G= (p.Ser1903=) c.5712G= (p.Ser1904=) c.5658G= (p.Ser1886=) c.5550G= (p.Ser1850=) c.5613G= (p.Ser1871=) c.5583G= (p.Ser1861=) c.5655G= (p.Ser1885=) | |
| 3 | g.38550660C>G | CA433331561 | SCN5A | c.5709G>C (p.Ser1903=) c.5712G>C (p.Ser1904=) c.5658G>C (p.Ser1886=) c.5550G>C (p.Ser1850=) c.5613G>C (p.Ser1871=) c.5583G>C (p.Ser1861=) c.5655G>C (p.Ser1885=) | |
| 3 | g.38550660C>T | CA064690 | SCN5A | c.5709G>A (p.Ser1903=) c.5712G>A (p.Ser1904=) c.5658G>A (p.Ser1886=) c.5550G>A (p.Ser1850=) c.5613G>A (p.Ser1871=) c.5583G>A (p.Ser1861=) c.5655G>A (p.Ser1885=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550661G>A | CA019439 | SCN5A | c.5708C>T (p.Ser1903Leu) c.5711C>T (p.Ser1904Leu) c.5657C>T (p.Ser1886Leu) c.5549C>T (p.Ser1850Leu) c.5612C>T (p.Ser1871Leu) c.5582C>T (p.Ser1861Leu) c.5654C>T (p.Ser1885Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550661G>C | CA352140235 | SCN5A | c.5708C>G (p.Ser1903Trp) c.5711C>G (p.Ser1904Trp) c.5657C>G (p.Ser1886Trp) c.5549C>G (p.Ser1850Trp) c.5612C>G (p.Ser1871Trp) c.5582C>G (p.Ser1861Trp) c.5654C>G (p.Ser1885Trp) | ClinVar dbSNP |
| 3 | g.38550661G= | CA1358556346 | SCN5A | c.5708C= (p.Ser1903=) c.5711C= (p.Ser1904=) c.5657C= (p.Ser1886=) c.5549C= (p.Ser1850=) c.5612C= (p.Ser1871=) c.5582C= (p.Ser1861=) c.5654C= (p.Ser1885=) | |
| 3 | g.38550661G>T | CA352140236 | SCN5A | c.5708C>A (p.Ser1903Ter) c.5711C>A (p.Ser1904Ter) c.5657C>A (p.Ser1886Ter) c.5549C>A (p.Ser1850Ter) c.5612C>A (p.Ser1871Ter) c.5582C>A (p.Ser1861Ter) c.5654C>A (p.Ser1885Ter) | dbSNP gnomAD v4 |
| 3 | g.38550662A>C | CA352140238 | SCN5A | c.5707T>G (p.Ser1903Ala) c.5710T>G (p.Ser1904Ala) c.5656T>G (p.Ser1886Ala) c.5548T>G (p.Ser1850Ala) c.5611T>G (p.Ser1871Ala) c.5581T>G (p.Ser1861Ala) c.5653T>G (p.Ser1885Ala) | |
| 3 | g.38550662A>G | CA352140240 | SCN5A | c.5707T>C (p.Ser1903Pro) c.5710T>C (p.Ser1904Pro) c.5656T>C (p.Ser1886Pro) c.5548T>C (p.Ser1850Pro) c.5611T>C (p.Ser1871Pro) c.5581T>C (p.Ser1861Pro) c.5653T>C (p.Ser1885Pro) | |
| 3 | g.38550662A>T | CA352140242 | SCN5A | c.5707T>A (p.Ser1903Thr) c.5710T>A (p.Ser1904Thr) c.5656T>A (p.Ser1886Thr) c.5548T>A (p.Ser1850Thr) c.5611T>A (p.Ser1871Thr) c.5581T>A (p.Ser1861Thr) c.5653T>A (p.Ser1885Thr) | |
| 3 | g.38550663C>A | CA433331565 | SCN5A | c.5706G>T (p.Val1902=) c.5709G>T (p.Val1903=) c.5655G>T (p.Val1885=) c.5547G>T (p.Val1849=) c.5610G>T (p.Val1870=) c.5580G>T (p.Val1860=) c.5652G>T (p.Val1884=) | |
| 3 | g.38550663C>G | CA433331566 | SCN5A | c.5706G>C (p.Val1902=) c.5709G>C (p.Val1903=) c.5655G>C (p.Val1885=) c.5547G>C (p.Val1849=) c.5610G>C (p.Val1870=) c.5580G>C (p.Val1860=) c.5652G>C (p.Val1884=) | |
| 3 | g.38550663C>T | CA433331567 | SCN5A | c.5706G>A (p.Val1902=) c.5709G>A (p.Val1903=) c.5655G>A (p.Val1885=) c.5547G>A (p.Val1849=) c.5610G>A (p.Val1870=) c.5580G>A (p.Val1860=) c.5652G>A (p.Val1884=) | |
| 3 | g.38550664A>C | CA352140243 | SCN5A | c.5705T>G (p.Val1902Gly) c.5708T>G (p.Val1903Gly) c.5654T>G (p.Val1885Gly) c.5546T>G (p.Val1849Gly) c.5609T>G (p.Val1870Gly) c.5579T>G (p.Val1860Gly) c.5651T>G (p.Val1884Gly) | |
| 3 | g.38550664A>G | CA352140244 | SCN5A | c.5705T>C (p.Val1902Ala) c.5708T>C (p.Val1903Ala) c.5654T>C (p.Val1885Ala) c.5546T>C (p.Val1849Ala) c.5609T>C (p.Val1870Ala) c.5579T>C (p.Val1860Ala) c.5651T>C (p.Val1884Ala) | ClinVar dbSNP |
| 3 | g.38550664A>T | CA352140246 | SCN5A | c.5705T>A (p.Val1902Glu) c.5708T>A (p.Val1903Glu) c.5654T>A (p.Val1885Glu) c.5546T>A (p.Val1849Glu) c.5609T>A (p.Val1870Glu) c.5579T>A (p.Val1860Glu) c.5651T>A (p.Val1884Glu) | |
| 3 | g.38550665C>A | CA348136 | SCN5A | c.5704G>T (p.Val1902Leu) c.5707G>T (p.Val1903Leu) c.5653G>T (p.Val1885Leu) c.5545G>T (p.Val1849Leu) c.5608G>T (p.Val1870Leu) c.5578G>T (p.Val1860Leu) c.5650G>T (p.Val1884Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550665C= | CA1358556351 | SCN5A | c.5704G= (p.Val1902=) c.5707G= (p.Val1903=) c.5653G= (p.Val1885=) c.5545G= (p.Val1849=) c.5608G= (p.Val1870=) c.5578G= (p.Val1860=) c.5650G= (p.Val1884=) | |
| 3 | g.38550665C>G | CA352140249 | SCN5A | c.5704G>C (p.Val1902Leu) c.5707G>C (p.Val1903Leu) c.5653G>C (p.Val1885Leu) c.5545G>C (p.Val1849Leu) c.5608G>C (p.Val1870Leu) c.5578G>C (p.Val1860Leu) c.5650G>C (p.Val1884Leu) | |
| 3 | g.38550665C>T | CA352140251 | SCN5A | c.5704G>A (p.Val1902Met) c.5707G>A (p.Val1903Met) c.5653G>A (p.Val1885Met) c.5545G>A (p.Val1849Met) c.5608G>A (p.Val1870Met) c.5578G>A (p.Val1860Met) c.5650G>A (p.Val1884Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550666C>A | CA352140255 | SCN5A | c.5703G>T (p.Glu1901Asp) c.5706G>T (p.Glu1902Asp) c.5652G>T (p.Glu1884Asp) c.5544G>T (p.Glu1848Asp) c.5607G>T (p.Glu1869Asp) c.5577G>T (p.Glu1859Asp) c.5649G>T (p.Glu1883Asp) | |
| 3 | g.38550666C>G | CA352140253 | SCN5A | c.5703G>C (p.Glu1901Asp) c.5706G>C (p.Glu1902Asp) c.5652G>C (p.Glu1884Asp) c.5544G>C (p.Glu1848Asp) c.5607G>C (p.Glu1869Asp) c.5577G>C (p.Glu1859Asp) c.5649G>C (p.Glu1883Asp) | gnomAD v4 |
| 3 | g.38550666C>T | CA433331575 | SCN5A | c.5703G>A (p.Glu1901=) c.5706G>A (p.Glu1902=) c.5652G>A (p.Glu1884=) c.5544G>A (p.Glu1848=) c.5607G>A (p.Glu1869=) c.5577G>A (p.Glu1859=) c.5649G>A (p.Glu1883=) | |
| 3 | g.38550667T>A | CA352140257 | SCN5A | c.5702A>T (p.Glu1901Val) c.5705A>T (p.Glu1902Val) c.5651A>T (p.Glu1884Val) c.5543A>T (p.Glu1848Val) c.5606A>T (p.Glu1869Val) c.5576A>T (p.Glu1859Val) c.5648A>T (p.Glu1883Val) | dbSNP |
| 3 | g.38550667T>C | CA352140261 | SCN5A | c.5702A>G (p.Glu1901Gly) c.5705A>G (p.Glu1902Gly) c.5651A>G (p.Glu1884Gly) c.5543A>G (p.Glu1848Gly) c.5606A>G (p.Glu1869Gly) c.5576A>G (p.Glu1859Gly) c.5648A>G (p.Glu1883Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550667T>G | CA352140259 | SCN5A | c.5702A>C (p.Glu1901Ala) c.5705A>C (p.Glu1902Ala) c.5651A>C (p.Glu1884Ala) c.5543A>C (p.Glu1848Ala) c.5606A>C (p.Glu1869Ala) c.5576A>C (p.Glu1859Ala) c.5648A>C (p.Glu1883Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550667T= | CA1358556357 | SCN5A | c.5702A= (p.Glu1901=) c.5705A= (p.Glu1902=) c.5651A= (p.Glu1884=) c.5543A= (p.Glu1848=) c.5606A= (p.Glu1869=) c.5576A= (p.Glu1859=) c.5648A= (p.Glu1883=) | |
| 3 | g.38550669_38550671dup | CA2665106301 | SCN5A | c.5700_5702dup (p.Glu1901_Val1902insGlu) c.5703_5705dup (p.Glu1902_Val1903insGlu) c.5649_5651dup (p.Glu1884_Val1885insGlu) c.5541_5543dup (p.Glu1848_Val1849insGlu) c.5604_5606dup (p.Glu1869_Val1870insGlu) c.5574_5576dup (p.Glu1859_Val1860insGlu) c.5646_5648dup (p.Glu1883_Val1884insGlu) | gnomAD v4 |
| 3 | g.38550668C>A | CA352140263 | SCN5A | c.5701G>T (p.Glu1901Ter) c.5704G>T (p.Glu1902Ter) c.5650G>T (p.Glu1884Ter) c.5542G>T (p.Glu1848Ter) c.5605G>T (p.Glu1869Ter) c.5575G>T (p.Glu1859Ter) c.5647G>T (p.Glu1883Ter) | dbSNP |
| 3 | g.38550668C= | CA1358556361 | SCN5A | c.5701G= (p.Glu1901=) c.5704G= (p.Glu1902=) c.5650G= (p.Glu1884=) c.5542G= (p.Glu1848=) c.5605G= (p.Glu1869=) c.5575G= (p.Glu1859=) c.5647G= (p.Glu1883=) | |
| 3 | g.38550668C>G | CA352140265 | SCN5A | c.5701G>C (p.Glu1901Gln) c.5704G>C (p.Glu1902Gln) c.5650G>C (p.Glu1884Gln) c.5542G>C (p.Glu1848Gln) c.5605G>C (p.Glu1869Gln) c.5575G>C (p.Glu1859Gln) c.5647G>C (p.Glu1883Gln) | ClinVar dbSNP |
| 3 | g.38550668C>T | CA352140266 | SCN5A | c.5701G>A (p.Glu1901Lys) c.5704G>A (p.Glu1902Lys) c.5650G>A (p.Glu1884Lys) c.5542G>A (p.Glu1848Lys) c.5605G>A (p.Glu1869Lys) c.5575G>A (p.Glu1859Lys) c.5647G>A (p.Glu1883Lys) | gnomAD v4 |
| 3 | g.38550669T>A | CA352140268 | SCN5A | c.5700A>T (p.Glu1900Asp) c.5703A>T (p.Glu1901Asp) c.5649A>T (p.Glu1883Asp) c.5541A>T (p.Glu1847Asp) c.5604A>T (p.Glu1868Asp) c.5574A>T (p.Glu1858Asp) c.5646A>T (p.Glu1882Asp) | |
| 3 | g.38550669T>C | CA433331582 | SCN5A | c.5700A>G (p.Glu1900=) c.5703A>G (p.Glu1901=) c.5649A>G (p.Glu1883=) c.5541A>G (p.Glu1847=) c.5604A>G (p.Glu1868=) c.5574A>G (p.Glu1858=) c.5646A>G (p.Glu1882=) | |
| 3 | g.38550669T>G | CA352140270 | SCN5A | c.5700A>C (p.Glu1900Asp) c.5703A>C (p.Glu1901Asp) c.5649A>C (p.Glu1883Asp) c.5541A>C (p.Glu1847Asp) c.5604A>C (p.Glu1868Asp) c.5574A>C (p.Glu1858Asp) c.5646A>C (p.Glu1882Asp) | |
| 3 | g.38550670T>A | CA352140272 | SCN5A | c.5699A>T (p.Glu1900Val) c.5702A>T (p.Glu1901Val) c.5648A>T (p.Glu1883Val) c.5540A>T (p.Glu1847Val) c.5603A>T (p.Glu1868Val) c.5573A>T (p.Glu1858Val) c.5645A>T (p.Glu1882Val) | |
| 3 | g.38550670T>C | CA352140274 | SCN5A | c.5699A>G (p.Glu1900Gly) c.5702A>G (p.Glu1901Gly) c.5648A>G (p.Glu1883Gly) c.5540A>G (p.Glu1847Gly) c.5603A>G (p.Glu1868Gly) c.5573A>G (p.Glu1858Gly) c.5645A>G (p.Glu1882Gly) | |
| 3 | g.38550670T>G | CA352140276 | SCN5A | c.5699A>C (p.Glu1900Ala) c.5702A>C (p.Glu1901Ala) c.5648A>C (p.Glu1883Ala) c.5540A>C (p.Glu1847Ala) c.5603A>C (p.Glu1868Ala) c.5573A>C (p.Glu1858Ala) c.5645A>C (p.Glu1882Ala) | |
| 3 | g.38550671C>A | CA352140277 | SCN5A | c.5698G>T (p.Glu1900Ter) c.5701G>T (p.Glu1901Ter) c.5647G>T (p.Glu1883Ter) c.5539G>T (p.Glu1847Ter) c.5602G>T (p.Glu1868Ter) c.5572G>T (p.Glu1858Ter) c.5644G>T (p.Glu1882Ter) | dbSNP |
| 3 | g.38550671C= | CA1358556376 | SCN5A | c.5698G= (p.Glu1900=) c.5701G= (p.Glu1901=) c.5647G= (p.Glu1883=) c.5539G= (p.Glu1847=) c.5602G= (p.Glu1868=) c.5572G= (p.Glu1858=) c.5644G= (p.Glu1882=) | |
| 3 | g.38550671C>G | CA019431 | SCN5A | c.5698G>C (p.Glu1900Gln) c.5701G>C (p.Glu1901Gln) c.5647G>C (p.Glu1883Gln) c.5539G>C (p.Glu1847Gln) c.5602G>C (p.Glu1868Gln) c.5572G>C (p.Glu1858Gln) c.5644G>C (p.Glu1882Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550671C>T | CA019426 | SCN5A | c.5698G>A (p.Glu1900Lys) c.5701G>A (p.Glu1901Lys) c.5647G>A (p.Glu1883Lys) c.5539G>A (p.Glu1847Lys) c.5602G>A (p.Glu1868Lys) c.5572G>A (p.Glu1858Lys) c.5644G>A (p.Glu1882Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550672G>A | CA064671 | SCN5A | c.5697C>T (p.His1899=) c.5700C>T (p.His1900=) c.5646C>T (p.His1882=) c.5538C>T (p.His1846=) c.5601C>T (p.His1867=) c.5571C>T (p.His1857=) c.5643C>T (p.His1881=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550672G>C | CA352140281 | SCN5A | c.5697C>G (p.His1899Gln) c.5700C>G (p.His1900Gln) c.5646C>G (p.His1882Gln) c.5538C>G (p.His1846Gln) c.5601C>G (p.His1867Gln) c.5571C>G (p.His1857Gln) c.5643C>G (p.His1881Gln) | gnomAD v4 |
| 3 | g.38550672G= | CA1358556379 | SCN5A | c.5697C= (p.His1899=) c.5700C= (p.His1900=) c.5646C= (p.His1882=) c.5538C= (p.His1846=) c.5601C= (p.His1867=) c.5571C= (p.His1857=) c.5643C= (p.His1881=) | |
| 3 | g.38550672G>T | CA352140279 | SCN5A | c.5697C>A (p.His1899Gln) c.5700C>A (p.His1900Gln) c.5646C>A (p.His1882Gln) c.5538C>A (p.His1846Gln) c.5601C>A (p.His1867Gln) c.5571C>A (p.His1857Gln) c.5643C>A (p.His1881Gln) | |
| 3 | g.38550673T>A | CA352140282 | SCN5A | c.5696A>T (p.His1899Leu) c.5699A>T (p.His1900Leu) c.5645A>T (p.His1882Leu) c.5537A>T (p.His1846Leu) c.5600A>T (p.His1867Leu) c.5570A>T (p.His1857Leu) c.5642A>T (p.His1881Leu) | |
| 3 | g.38550673T>C | CA352140284 | SCN5A | c.5696A>G (p.His1899Arg) c.5699A>G (p.His1900Arg) c.5645A>G (p.His1882Arg) c.5537A>G (p.His1846Arg) c.5600A>G (p.His1867Arg) c.5570A>G (p.His1857Arg) c.5642A>G (p.His1881Arg) | |
| 3 | g.38550673T>G | CA352140286 | SCN5A | c.5696A>C (p.His1899Pro) c.5699A>C (p.His1900Pro) c.5645A>C (p.His1882Pro) c.5537A>C (p.His1846Pro) c.5600A>C (p.His1867Pro) c.5570A>C (p.His1857Pro) c.5642A>C (p.His1881Pro) | |
| 3 | g.38550674G>A | CA352140288 | SCN5A | c.5695C>T (p.His1899Tyr) c.5698C>T (p.His1900Tyr) c.5644C>T (p.His1882Tyr) c.5536C>T (p.His1846Tyr) c.5599C>T (p.His1867Tyr) c.5569C>T (p.His1857Tyr) c.5641C>T (p.His1881Tyr) | |
| 3 | g.38550674G>C | CA352140289 | SCN5A | c.5695C>G (p.His1899Asp) c.5698C>G (p.His1900Asp) c.5644C>G (p.His1882Asp) c.5536C>G (p.His1846Asp) c.5599C>G (p.His1867Asp) c.5569C>G (p.His1857Asp) c.5641C>G (p.His1881Asp) | |
| 3 | g.38550674G>T | CA352140291 | SCN5A | c.5695C>A (p.His1899Asn) c.5698C>A (p.His1900Asn) c.5644C>A (p.His1882Asn) c.5536C>A (p.His1846Asn) c.5599C>A (p.His1867Asn) c.5569C>A (p.His1857Asn) c.5641C>A (p.His1881Asn) | |
| 3 | g.38550675C>A | CA352140294 | SCN5A | c.5694G>T (p.Lys1898Asn) c.5697G>T (p.Lys1899Asn) c.5643G>T (p.Lys1881Asn) c.5535G>T (p.Lys1845Asn) c.5598G>T (p.Lys1866Asn) c.5568G>T (p.Lys1856Asn) c.5640G>T (p.Lys1880Asn) | |
| 3 | g.38550675C>G | CA352140295 | SCN5A | c.5694G>C (p.Lys1898Asn) c.5697G>C (p.Lys1899Asn) c.5643G>C (p.Lys1881Asn) c.5535G>C (p.Lys1845Asn) c.5598G>C (p.Lys1866Asn) c.5568G>C (p.Lys1856Asn) c.5640G>C (p.Lys1880Asn) | |
| 3 | g.38550675C>T | CA433331591 | SCN5A | c.5694G>A (p.Lys1898=) c.5697G>A (p.Lys1899=) c.5643G>A (p.Lys1881=) c.5535G>A (p.Lys1845=) c.5598G>A (p.Lys1866=) c.5568G>A (p.Lys1856=) c.5640G>A (p.Lys1880=) | |
| 3 | g.38550676T>A | CA352140296 | SCN5A | c.5693A>T (p.Lys1898Met) c.5696A>T (p.Lys1899Met) c.5642A>T (p.Lys1881Met) c.5534A>T (p.Lys1845Met) c.5597A>T (p.Lys1866Met) c.5567A>T (p.Lys1856Met) c.5639A>T (p.Lys1880Met) | |
| 3 | g.38550676T>C | CA352140298 | SCN5A | c.5693A>G (p.Lys1898Arg) c.5696A>G (p.Lys1899Arg) c.5642A>G (p.Lys1881Arg) c.5534A>G (p.Lys1845Arg) c.5597A>G (p.Lys1866Arg) c.5567A>G (p.Lys1856Arg) c.5639A>G (p.Lys1880Arg) | |
| 3 | g.38550676T>G | CA352140300 | SCN5A | c.5693A>C (p.Lys1898Thr) c.5696A>C (p.Lys1899Thr) c.5642A>C (p.Lys1881Thr) c.5534A>C (p.Lys1845Thr) c.5597A>C (p.Lys1866Thr) c.5567A>C (p.Lys1856Thr) c.5639A>C (p.Lys1880Thr) | |
| 3 | g.38550677T>A | CA352140305 | SCN5A | c.5692A>T (p.Lys1898Ter) c.5695A>T (p.Lys1899Ter) c.5641A>T (p.Lys1881Ter) c.5533A>T (p.Lys1845Ter) c.5596A>T (p.Lys1866Ter) c.5566A>T (p.Lys1856Ter) c.5638A>T (p.Lys1880Ter) | dbSNP |
| 3 | g.38550677T>C | CA352140304 | SCN5A | c.5692A>G (p.Lys1898Glu) c.5695A>G (p.Lys1899Glu) c.5641A>G (p.Lys1881Glu) c.5533A>G (p.Lys1845Glu) c.5596A>G (p.Lys1866Glu) c.5566A>G (p.Lys1856Glu) c.5638A>G (p.Lys1880Glu) | ClinVar dbSNP |
| 3 | g.38550677T>G | CA352140302 | SCN5A | c.5692A>C (p.Lys1898Gln) c.5695A>C (p.Lys1899Gln) c.5641A>C (p.Lys1881Gln) c.5533A>C (p.Lys1845Gln) c.5596A>C (p.Lys1866Gln) c.5566A>C (p.Lys1856Gln) c.5638A>C (p.Lys1880Gln) | |
| 3 | g.38550677T= | CA1358556384 | SCN5A | c.5692A= (p.Lys1898=) c.5695A= (p.Lys1899=) c.5641A= (p.Lys1881=) c.5533A= (p.Lys1845=) c.5596A= (p.Lys1866=) c.5566A= (p.Lys1856=) c.5638A= (p.Lys1880=) | |
| 3 | g.38550678G>A | CA433331601 | SCN5A | c.5691C>T (p.Arg1897=) c.5694C>T (p.Arg1898=) c.5640C>T (p.Arg1880=) c.5532C>T (p.Arg1844=) c.5595C>T (p.Arg1865=) c.5565C>T (p.Arg1855=) c.5637C>T (p.Arg1879=) | |
| 3 | g.38550678G>C | CA433331603 | SCN5A | c.5691C>G (p.Arg1897=) c.5694C>G (p.Arg1898=) c.5640C>G (p.Arg1880=) c.5532C>G (p.Arg1844=) c.5595C>G (p.Arg1865=) c.5565C>G (p.Arg1855=) c.5637C>G (p.Arg1879=) | ClinVar gnomAD v4 |
| 3 | g.38550678G>T | CA433331604 | SCN5A | c.5691C>A (p.Arg1897=) c.5694C>A (p.Arg1898=) c.5640C>A (p.Arg1880=) c.5532C>A (p.Arg1844=) c.5595C>A (p.Arg1865=) c.5565C>A (p.Arg1855=) c.5637C>A (p.Arg1879=) | |
| 3 | g.38550679C>A | CA352140307 | SCN5A | c.5690G>T (p.Arg1897Leu) c.5693G>T (p.Arg1898Leu) c.5639G>T (p.Arg1880Leu) c.5531G>T (p.Arg1844Leu) c.5594G>T (p.Arg1865Leu) c.5564G>T (p.Arg1855Leu) c.5636G>T (p.Arg1879Leu) | |
| 3 | g.38550679C= | CA1358556389 | SCN5A | c.5690G= (p.Arg1897=) c.5693G= (p.Arg1898=) c.5639G= (p.Arg1880=) c.5531G= (p.Arg1844=) c.5594G= (p.Arg1865=) c.5564G= (p.Arg1855=) c.5636G= (p.Arg1879=) | |
| 3 | g.38550679C>G | CA352140308 | SCN5A | c.5690G>C (p.Arg1897Pro) c.5693G>C (p.Arg1898Pro) c.5639G>C (p.Arg1880Pro) c.5531G>C (p.Arg1844Pro) c.5594G>C (p.Arg1865Pro) c.5564G>C (p.Arg1855Pro) c.5636G>C (p.Arg1879Pro) | COSMIC |
| 3 | g.38550679C>T | CA064651 | SCN5A | c.5690G>A (p.Arg1897His) c.5693G>A (p.Arg1898His) c.5639G>A (p.Arg1880His) c.5531G>A (p.Arg1844His) c.5594G>A (p.Arg1865His) c.5564G>A (p.Arg1855His) c.5636G>A (p.Arg1879His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550680G>A | CA064645 | SCN5A | c.5689C>T (p.Arg1897Cys) c.5692C>T (p.Arg1898Cys) c.5638C>T (p.Arg1880Cys) c.5530C>T (p.Arg1844Cys) c.5593C>T (p.Arg1865Cys) c.5563C>T (p.Arg1855Cys) c.5635C>T (p.Arg1879Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550680G>C | CA352140312 | SCN5A | c.5689C>G (p.Arg1897Gly) c.5692C>G (p.Arg1898Gly) c.5638C>G (p.Arg1880Gly) c.5530C>G (p.Arg1844Gly) c.5593C>G (p.Arg1865Gly) c.5563C>G (p.Arg1855Gly) c.5635C>G (p.Arg1879Gly) | |
| 3 | g.38550680G= | CA1358556398 | SCN5A | c.5689C= (p.Arg1897=) c.5692C= (p.Arg1898=) c.5638C= (p.Arg1880=) c.5530C= (p.Arg1844=) c.5593C= (p.Arg1865=) c.5563C= (p.Arg1855=) c.5635C= (p.Arg1879=) | |
| 3 | g.38550680G>T | CA352140314 | SCN5A | c.5689C>A (p.Arg1897Ser) c.5692C>A (p.Arg1898Ser) c.5638C>A (p.Arg1880Ser) c.5530C>A (p.Arg1844Ser) c.5593C>A (p.Arg1865Ser) c.5563C>A (p.Arg1855Ser) c.5635C>A (p.Arg1879Ser) | |
| 3 | g.38550681C>A | CA433331609 | SCN5A | c.5688G>T (p.Arg1896=) c.5691G>T (p.Arg1897=) c.5637G>T (p.Arg1879=) c.5529G>T (p.Arg1843=) c.5592G>T (p.Arg1864=) c.5562G>T (p.Arg1854=) c.5634G>T (p.Arg1878=) | |
| 3 | g.38550681C>G | CA433331612 | SCN5A | c.5688G>C (p.Arg1896=) c.5691G>C (p.Arg1897=) c.5637G>C (p.Arg1879=) c.5529G>C (p.Arg1843=) c.5592G>C (p.Arg1864=) c.5562G>C (p.Arg1854=) c.5634G>C (p.Arg1878=) | gnomAD v4 |
| 3 | g.38550681C>T | CA433331613 | SCN5A | c.5688G>A (p.Arg1896=) c.5691G>A (p.Arg1897=) c.5637G>A (p.Arg1879=) c.5529G>A (p.Arg1843=) c.5592G>A (p.Arg1864=) c.5562G>A (p.Arg1854=) c.5634G>A (p.Arg1878=) | |
| 3 | g.38550682C>A | CA352140316 | SCN5A | c.5687G>T (p.Arg1896Leu) c.5690G>T (p.Arg1897Leu) c.5636G>T (p.Arg1879Leu) c.5528G>T (p.Arg1843Leu) c.5591G>T (p.Arg1864Leu) c.5561G>T (p.Arg1854Leu) c.5633G>T (p.Arg1878Leu) | |
| 3 | g.38550682C= | CA1358556403 | SCN5A | c.5687G= (p.Arg1896=) c.5690G= (p.Arg1897=) c.5636G= (p.Arg1879=) c.5528G= (p.Arg1843=) c.5591G= (p.Arg1864=) c.5561G= (p.Arg1854=) c.5633G= (p.Arg1878=) | |
| 3 | g.38550682C>G | CA352140318 | SCN5A | c.5687G>C (p.Arg1896Pro) c.5690G>C (p.Arg1897Pro) c.5636G>C (p.Arg1879Pro) c.5528G>C (p.Arg1843Pro) c.5591G>C (p.Arg1864Pro) c.5561G>C (p.Arg1854Pro) c.5633G>C (p.Arg1878Pro) | |
| 3 | g.38550682C>T | CA064637 | SCN5A | c.5687G>A (p.Arg1896Gln) c.5690G>A (p.Arg1897Gln) c.5636G>A (p.Arg1879Gln) c.5528G>A (p.Arg1843Gln) c.5591G>A (p.Arg1864Gln) c.5561G>A (p.Arg1854Gln) c.5633G>A (p.Arg1878Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550683G>A | CA353758 | SCN5A | c.5686C>T (p.Arg1896Trp) c.5689C>T (p.Arg1897Trp) c.5635C>T (p.Arg1879Trp) c.5527C>T (p.Arg1843Trp) c.5590C>T (p.Arg1864Trp) c.5560C>T (p.Arg1854Trp) c.5632C>T (p.Arg1878Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550683G>C | CA352140321 | SCN5A | c.5686C>G (p.Arg1896Gly) c.5689C>G (p.Arg1897Gly) c.5635C>G (p.Arg1879Gly) c.5527C>G (p.Arg1843Gly) c.5590C>G (p.Arg1864Gly) c.5560C>G (p.Arg1854Gly) c.5632C>G (p.Arg1878Gly) | |
| 3 | g.38550683G= | CA1358556411 | SCN5A | c.5686C= (p.Arg1896=) c.5689C= (p.Arg1897=) c.5635C= (p.Arg1879=) c.5527C= (p.Arg1843=) c.5590C= (p.Arg1864=) c.5560C= (p.Arg1854=) c.5632C= (p.Arg1878=) | |
| 3 | g.38550683G>T | CA433331617 | SCN5A | c.5686C>A (p.Arg1896=) c.5689C>A (p.Arg1897=) c.5635C>A (p.Arg1879=) c.5527C>A (p.Arg1843=) c.5590C>A (p.Arg1864=) c.5560C>A (p.Arg1854=) c.5632C>A (p.Arg1878=) | gnomAD v4 |
| 3 | g.38550683_38550685delinsGGA | CA1358556416 | SCN5A | c.5684_5686delinsTCC (p.Leu1895=) c.5687_5689delinsTCC (p.Leu1896=) c.5633_5635delinsTCC (p.Leu1878=) c.5525_5527delinsTCC (p.Leu1842=) c.5588_5590delinsTCC (p.Leu1863=) c.5558_5560delinsTCC (p.Leu1853=) c.5630_5632delinsTCC (p.Leu1877=) | |
| 3 | g.38550684G>A | CA433331618 | SCN5A | c.5685C>T (p.Leu1895=) c.5688C>T (p.Leu1896=) c.5634C>T (p.Leu1878=) c.5526C>T (p.Leu1842=) c.5589C>T (p.Leu1863=) c.5559C>T (p.Leu1853=) c.5631C>T (p.Leu1877=) | |
| 3 | g.38550684G>C | CA433331619 | SCN5A | c.5685C>G (p.Leu1895=) c.5688C>G (p.Leu1896=) c.5634C>G (p.Leu1878=) c.5526C>G (p.Leu1842=) c.5589C>G (p.Leu1863=) c.5559C>G (p.Leu1853=) c.5631C>G (p.Leu1877=) | dbSNP |
| 3 | g.38550684G= | CA1358556419 | SCN5A | c.5685C= (p.Leu1895=) c.5688C= (p.Leu1896=) c.5634C= (p.Leu1878=) c.5526C= (p.Leu1842=) c.5589C= (p.Leu1863=) c.5559C= (p.Leu1853=) c.5631C= (p.Leu1877=) | |
| 3 | g.38550684G>T | CA433331620 | SCN5A | c.5685C>A (p.Leu1895=) c.5688C>A (p.Leu1896=) c.5634C>A (p.Leu1878=) c.5526C>A (p.Leu1842=) c.5589C>A (p.Leu1863=) c.5559C>A (p.Leu1853=) c.5631C>A (p.Leu1877=) | |
| 3 | g.38550685_38550686del | CA2319534 | SCN5A | c.5684_5685del (p.Leu1895ProfsTer?) c.5687_5688del (p.Leu1896ProfsTer?) c.5633_5634del (p.Leu1878ProfsTer?) c.5525_5526del (p.Leu1842ProfsTer?) c.5588_5589del (p.Leu1863ProfsTer?) c.5558_5559del (p.Leu1853ProfsTer?) c.5630_5631del (p.Leu1877ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550685A= | CA1358556422 | SCN5A | c.5684T= (p.Leu1895=) c.5687T= (p.Leu1896=) c.5633T= (p.Leu1878=) c.5525T= (p.Leu1842=) c.5588T= (p.Leu1863=) c.5558T= (p.Leu1853=) c.5630T= (p.Leu1877=) | |
| 3 | g.38550685A>C | CA352140326 | SCN5A | c.5684T>G (p.Leu1895Arg) c.5687T>G (p.Leu1896Arg) c.5633T>G (p.Leu1878Arg) c.5525T>G (p.Leu1842Arg) c.5588T>G (p.Leu1863Arg) c.5558T>G (p.Leu1853Arg) c.5630T>G (p.Leu1877Arg) | |
| 3 | g.38550685A>G | CA064624 | SCN5A | c.5684T>C (p.Leu1895Pro) c.5687T>C (p.Leu1896Pro) c.5633T>C (p.Leu1878Pro) c.5525T>C (p.Leu1842Pro) c.5588T>C (p.Leu1863Pro) c.5558T>C (p.Leu1853Pro) c.5630T>C (p.Leu1877Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550685A>T | CA352140323 | SCN5A | c.5684T>A (p.Leu1895His) c.5687T>A (p.Leu1896His) c.5633T>A (p.Leu1878His) c.5525T>A (p.Leu1842His) c.5588T>A (p.Leu1863His) c.5558T>A (p.Leu1853His) c.5630T>A (p.Leu1877His) | |
| 3 | g.38550686G>A | CA352140328 | SCN5A | c.5683C>T (p.Leu1895Phe) c.5686C>T (p.Leu1896Phe) c.5632C>T (p.Leu1878Phe) c.5524C>T (p.Leu1842Phe) c.5587C>T (p.Leu1863Phe) c.5557C>T (p.Leu1853Phe) c.5629C>T (p.Leu1877Phe) | ClinVar dbSNP |
| 3 | g.38550686G>C | CA352140330 | SCN5A | c.5683C>G (p.Leu1895Val) c.5686C>G (p.Leu1896Val) c.5632C>G (p.Leu1878Val) c.5524C>G (p.Leu1842Val) c.5587C>G (p.Leu1863Val) c.5557C>G (p.Leu1853Val) c.5629C>G (p.Leu1877Val) | ClinVar |
| 3 | g.38550686G= | CA1358556424 | SCN5A | c.5683C= (p.Leu1895=) c.5686C= (p.Leu1896=) c.5632C= (p.Leu1878=) c.5524C= (p.Leu1842=) c.5587C= (p.Leu1863=) c.5557C= (p.Leu1853=) c.5629C= (p.Leu1877=) | |
| 3 | g.38550686G>T | CA72937844 | SCN5A | c.5683C>A (p.Leu1895Ile) c.5686C>A (p.Leu1896Ile) c.5632C>A (p.Leu1878Ile) c.5524C>A (p.Leu1842Ile) c.5587C>A (p.Leu1863Ile) c.5557C>A (p.Leu1853Ile) c.5629C>A (p.Leu1877Ile) | dbSNP |
| 3 | g.38550687T>A | CA433331626 | SCN5A | c.5682A>T (p.Thr1894=) c.5685A>T (p.Thr1895=) c.5631A>T (p.Thr1877=) c.5523A>T (p.Thr1841=) c.5586A>T (p.Thr1862=) c.5556A>T (p.Thr1852=) c.5628A>T (p.Thr1876=) | |
| 3 | g.38550687T>C | CA433331627 | SCN5A | c.5682A>G (p.Thr1894=) c.5685A>G (p.Thr1895=) c.5631A>G (p.Thr1877=) c.5523A>G (p.Thr1841=) c.5586A>G (p.Thr1862=) c.5556A>G (p.Thr1852=) c.5628A>G (p.Thr1876=) | gnomAD v4 |
| 3 | g.38550687T>G | CA433331629 | SCN5A | c.5682A>C (p.Thr1894=) c.5685A>C (p.Thr1895=) c.5631A>C (p.Thr1877=) c.5523A>C (p.Thr1841=) c.5586A>C (p.Thr1862=) c.5556A>C (p.Thr1852=) c.5628A>C (p.Thr1876=) | |
| 3 | g.38550688G>A | CA064606 | SCN5A | c.5681C>T (p.Thr1894Ile) c.5684C>T (p.Thr1895Ile) c.5630C>T (p.Thr1877Ile) c.5522C>T (p.Thr1841Ile) c.5585C>T (p.Thr1862Ile) c.5555C>T (p.Thr1852Ile) c.5627C>T (p.Thr1876Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550688G>C | CA352140334 | SCN5A | c.5681C>G (p.Thr1894Arg) c.5684C>G (p.Thr1895Arg) c.5630C>G (p.Thr1877Arg) c.5522C>G (p.Thr1841Arg) c.5585C>G (p.Thr1862Arg) c.5555C>G (p.Thr1852Arg) c.5627C>G (p.Thr1876Arg) | |
| 3 | g.38550688G= | CA1358556426 | SCN5A | c.5681C= (p.Thr1894=) c.5684C= (p.Thr1895=) c.5630C= (p.Thr1877=) c.5522C= (p.Thr1841=) c.5585C= (p.Thr1862=) c.5555C= (p.Thr1852=) c.5627C= (p.Thr1876=) | |
| 3 | g.38550688G>T | CA352140335 | SCN5A | c.5681C>A (p.Thr1894Lys) c.5684C>A (p.Thr1895Lys) c.5630C>A (p.Thr1877Lys) c.5522C>A (p.Thr1841Lys) c.5585C>A (p.Thr1862Lys) c.5555C>A (p.Thr1852Lys) c.5627C>A (p.Thr1876Lys) | |
| 3 | g.38550689T>A | CA352140338 | SCN5A | c.5680A>T (p.Thr1894Ser) c.5683A>T (p.Thr1895Ser) c.5629A>T (p.Thr1877Ser) c.5521A>T (p.Thr1841Ser) c.5584A>T (p.Thr1862Ser) c.5554A>T (p.Thr1852Ser) c.5626A>T (p.Thr1876Ser) | |
| 3 | g.38550689T>C | CA352140340 | SCN5A | c.5680A>G (p.Thr1894Ala) c.5683A>G (p.Thr1895Ala) c.5629A>G (p.Thr1877Ala) c.5521A>G (p.Thr1841Ala) c.5584A>G (p.Thr1862Ala) c.5554A>G (p.Thr1852Ala) c.5626A>G (p.Thr1876Ala) | |
| 3 | g.38550689T>G | CA352140341 | SCN5A | c.5680A>C (p.Thr1894Pro) c.5683A>C (p.Thr1895Pro) c.5629A>C (p.Thr1877Pro) c.5521A>C (p.Thr1841Pro) c.5584A>C (p.Thr1862Pro) c.5554A>C (p.Thr1852Pro) c.5626A>C (p.Thr1876Pro) | |
| 3 | g.38550690G>A | CA72937846 | SCN5A | c.5679C>T (p.Thr1893=) c.5682C>T (p.Thr1894=) c.5628C>T (p.Thr1876=) c.5520C>T (p.Thr1840=) c.5583C>T (p.Thr1861=) c.5553C>T (p.Thr1851=) c.5625C>T (p.Thr1875=) | dbSNP gnomAD v4 |
| 3 | g.38550690G>C | CA433331633 | SCN5A | c.5679C>G (p.Thr1893=) c.5682C>G (p.Thr1894=) c.5628C>G (p.Thr1876=) c.5520C>G (p.Thr1840=) c.5583C>G (p.Thr1861=) c.5553C>G (p.Thr1851=) c.5625C>G (p.Thr1875=) | |
| 3 | g.38550690G= | CA1358556432 | SCN5A | c.5679C= (p.Thr1893=) c.5682C= (p.Thr1894=) c.5628C= (p.Thr1876=) c.5520C= (p.Thr1840=) c.5583C= (p.Thr1861=) c.5553C= (p.Thr1851=) c.5625C= (p.Thr1875=) | |
| 3 | g.38550690G>T | CA433331634 | SCN5A | c.5679C>A (p.Thr1893=) c.5682C>A (p.Thr1894=) c.5628C>A (p.Thr1876=) c.5520C>A (p.Thr1840=) c.5583C>A (p.Thr1861=) c.5553C>A (p.Thr1851=) c.5625C>A (p.Thr1875=) | gnomAD v4 |
| 3 | g.38550691G>A | CA352140343 | SCN5A | c.5678C>T (p.Thr1893Ile) c.5681C>T (p.Thr1894Ile) c.5627C>T (p.Thr1876Ile) c.5519C>T (p.Thr1840Ile) c.5582C>T (p.Thr1861Ile) c.5552C>T (p.Thr1851Ile) c.5624C>T (p.Thr1875Ile) | dbSNP |
| 3 | g.38550691G>C | CA352140344 | SCN5A | c.5678C>G (p.Thr1893Ser) c.5681C>G (p.Thr1894Ser) c.5627C>G (p.Thr1876Ser) c.5519C>G (p.Thr1840Ser) c.5582C>G (p.Thr1861Ser) c.5552C>G (p.Thr1851Ser) c.5624C>G (p.Thr1875Ser) | |
| 3 | g.38550691G= | CA1358556435 | SCN5A | c.5678C= (p.Thr1893=) c.5681C= (p.Thr1894=) c.5627C= (p.Thr1876=) c.5519C= (p.Thr1840=) c.5582C= (p.Thr1861=) c.5552C= (p.Thr1851=) c.5624C= (p.Thr1875=) | |
| 3 | g.38550691G>T | CA352140345 | SCN5A | c.5678C>A (p.Thr1893Asn) c.5681C>A (p.Thr1894Asn) c.5627C>A (p.Thr1876Asn) c.5519C>A (p.Thr1840Asn) c.5582C>A (p.Thr1861Asn) c.5552C>A (p.Thr1851Asn) c.5624C>A (p.Thr1875Asn) | gnomAD v4 |
| 3 | g.38550692T>A | CA352140348 | SCN5A | c.5677A>T (p.Thr1893Ser) c.5680A>T (p.Thr1894Ser) c.5626A>T (p.Thr1876Ser) c.5518A>T (p.Thr1840Ser) c.5581A>T (p.Thr1861Ser) c.5551A>T (p.Thr1851Ser) c.5623A>T (p.Thr1875Ser) | |
| 3 | g.38550692T>C | CA352140349 | SCN5A | c.5677A>G (p.Thr1893Ala) c.5680A>G (p.Thr1894Ala) c.5626A>G (p.Thr1876Ala) c.5518A>G (p.Thr1840Ala) c.5581A>G (p.Thr1861Ala) c.5551A>G (p.Thr1851Ala) c.5623A>G (p.Thr1875Ala) | gnomAD v4 |
| 3 | g.38550692T>G | CA352140346 | SCN5A | c.5677A>C (p.Thr1893Pro) c.5680A>C (p.Thr1894Pro) c.5626A>C (p.Thr1876Pro) c.5518A>C (p.Thr1840Pro) c.5581A>C (p.Thr1861Pro) c.5551A>C (p.Thr1851Pro) c.5623A>C (p.Thr1875Pro) | |
| 3 | g.38550693G>A | CA433331646 | SCN5A | c.5676C>T (p.Thr1892=) c.5679C>T (p.Thr1893=) c.5625C>T (p.Thr1875=) c.5517C>T (p.Thr1839=) c.5580C>T (p.Thr1860=) c.5550C>T (p.Thr1850=) c.5622C>T (p.Thr1874=) | |
| 3 | g.38550693G>C | CA433331647 | SCN5A | c.5676C>G (p.Thr1892=) c.5679C>G (p.Thr1893=) c.5625C>G (p.Thr1875=) c.5517C>G (p.Thr1839=) c.5580C>G (p.Thr1860=) c.5550C>G (p.Thr1850=) c.5622C>G (p.Thr1874=) | |
| 3 | g.38550693G>T | CA433331648 | SCN5A | c.5676C>A (p.Thr1892=) c.5679C>A (p.Thr1893=) c.5625C>A (p.Thr1875=) c.5517C>A (p.Thr1839=) c.5580C>A (p.Thr1860=) c.5550C>A (p.Thr1850=) c.5622C>A (p.Thr1874=) | |
| 3 | g.38550694dup | CA2755900437 | SCN5A | c.5676dup (p.Thr1893HisfsTer?) c.5679dup (p.Thr1894HisfsTer?) c.5625dup (p.Thr1876HisfsTer?) c.5517dup (p.Thr1840HisfsTer?) c.5580dup (p.Thr1861HisfsTer?) c.5550dup (p.Thr1851HisfsTer?) c.5622dup (p.Thr1875HisfsTer?) | |
| 3 | g.38550694G>A | CA352140350 | SCN5A | c.5675C>T (p.Thr1892Ile) c.5678C>T (p.Thr1893Ile) c.5624C>T (p.Thr1875Ile) c.5516C>T (p.Thr1839Ile) c.5579C>T (p.Thr1860Ile) c.5549C>T (p.Thr1850Ile) c.5621C>T (p.Thr1874Ile) | |
| 3 | g.38550694G>C | CA352140351 | SCN5A | c.5675C>G (p.Thr1892Ser) c.5678C>G (p.Thr1893Ser) c.5624C>G (p.Thr1875Ser) c.5516C>G (p.Thr1839Ser) c.5579C>G (p.Thr1860Ser) c.5549C>G (p.Thr1850Ser) c.5621C>G (p.Thr1874Ser) | |
| 3 | g.38550694G= | CA1358556437 | SCN5A | c.5675C= (p.Thr1892=) c.5678C= (p.Thr1893=) c.5624C= (p.Thr1875=) c.5516C= (p.Thr1839=) c.5579C= (p.Thr1860=) c.5549C= (p.Thr1850=) c.5621C= (p.Thr1874=) | |
| 3 | g.38550694G>T | CA352140353 | SCN5A | c.5675C>A (p.Thr1892Asn) c.5678C>A (p.Thr1893Asn) c.5624C>A (p.Thr1875Asn) c.5516C>A (p.Thr1839Asn) c.5579C>A (p.Thr1860Asn) c.5549C>A (p.Thr1850Asn) c.5621C>A (p.Thr1874Asn) | |
| 3 | g.38550695T>A | CA352140354 | SCN5A | c.5674A>T (p.Thr1892Ser) c.5677A>T (p.Thr1893Ser) c.5623A>T (p.Thr1875Ser) c.5515A>T (p.Thr1839Ser) c.5578A>T (p.Thr1860Ser) c.5548A>T (p.Thr1850Ser) c.5620A>T (p.Thr1874Ser) | |
| 3 | g.38550695T>C | CA352140356 | SCN5A | c.5674A>G (p.Thr1892Ala) c.5677A>G (p.Thr1893Ala) c.5623A>G (p.Thr1875Ala) c.5515A>G (p.Thr1839Ala) c.5578A>G (p.Thr1860Ala) c.5548A>G (p.Thr1850Ala) c.5620A>G (p.Thr1874Ala) | gnomAD v4 |
| 3 | g.38550695T>G | CA352140357 | SCN5A | c.5674A>C (p.Thr1892Pro) c.5677A>C (p.Thr1893Pro) c.5623A>C (p.Thr1875Pro) c.5515A>C (p.Thr1839Pro) c.5578A>C (p.Thr1860Pro) c.5548A>C (p.Thr1850Pro) c.5620A>C (p.Thr1874Pro) | |
| 3 | g.38550697_38550699dup | CA915942424 | SCN5A | c.5672_5674dup (p.Ile1891_Thr1892insIle) c.5675_5677dup (p.Ile1892_Thr1893insIle) c.5621_5623dup (p.Ile1874_Thr1875insIle) c.5513_5515dup (p.Ile1838_Thr1839insIle) c.5576_5578dup (p.Ile1859_Thr1860insIle) c.5546_5548dup (p.Ile1849_Thr1850insIle) c.5618_5620dup (p.Ile1873_Thr1874insIle) | ClinVar dbSNP |
| 3 | g.38550696del | CA2586965736 | SCN5A | c.5673del (p.Thr1892ProfsTer29) c.5676del (p.Thr1893ProfsTer29) c.5622del (p.Thr1875ProfsTer29) c.5514del (p.Thr1839ProfsTer29) c.5577del (p.Thr1860ProfsTer29) c.5547del (p.Thr1850ProfsTer29) c.5619del (p.Thr1874ProfsTer29) | |
| 3 | g.38550696G>A | CA064599 | SCN5A | c.5673C>T (p.Ile1891=) c.5676C>T (p.Ile1892=) c.5622C>T (p.Ile1874=) c.5514C>T (p.Ile1838=) c.5577C>T (p.Ile1859=) c.5547C>T (p.Ile1849=) c.5619C>T (p.Ile1873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550696G>C | CA352140360 | SCN5A | c.5673C>G (p.Ile1891Met) c.5676C>G (p.Ile1892Met) c.5622C>G (p.Ile1874Met) c.5514C>G (p.Ile1838Met) c.5577C>G (p.Ile1859Met) c.5547C>G (p.Ile1849Met) c.5619C>G (p.Ile1873Met) | dbSNP |
| 3 | g.38550696G= | CA1358556443 | SCN5A | c.5673C= (p.Ile1891=) c.5676C= (p.Ile1892=) c.5622C= (p.Ile1874=) c.5514C= (p.Ile1838=) c.5577C= (p.Ile1859=) c.5547C= (p.Ile1849=) c.5619C= (p.Ile1873=) | |
| 3 | g.38550696G>T | CA433331657 | SCN5A | c.5673C>A (p.Ile1891=) c.5676C>A (p.Ile1892=) c.5622C>A (p.Ile1874=) c.5514C>A (p.Ile1838=) c.5577C>A (p.Ile1859=) c.5547C>A (p.Ile1849=) c.5619C>A (p.Ile1873=) | |
| 3 | g.38550697A>C | CA352140362 | SCN5A | c.5672T>G (p.Ile1891Ser) c.5675T>G (p.Ile1892Ser) c.5621T>G (p.Ile1874Ser) c.5513T>G (p.Ile1838Ser) c.5576T>G (p.Ile1859Ser) c.5546T>G (p.Ile1849Ser) c.5618T>G (p.Ile1873Ser) | |
| 3 | g.38550697A>G | CA352140364 | SCN5A | c.5672T>C (p.Ile1891Thr) c.5675T>C (p.Ile1892Thr) c.5621T>C (p.Ile1874Thr) c.5513T>C (p.Ile1838Thr) c.5576T>C (p.Ile1859Thr) c.5546T>C (p.Ile1849Thr) c.5618T>C (p.Ile1873Thr) | |
| 3 | g.38550697A>T | CA352140366 | SCN5A | c.5672T>A (p.Ile1891Asn) c.5675T>A (p.Ile1892Asn) c.5621T>A (p.Ile1874Asn) c.5513T>A (p.Ile1838Asn) c.5576T>A (p.Ile1859Asn) c.5546T>A (p.Ile1849Asn) c.5618T>A (p.Ile1873Asn) | |
| 3 | g.38550698T>A | CA352140368 | SCN5A | c.5671A>T (p.Ile1891Phe) c.5674A>T (p.Ile1892Phe) c.5620A>T (p.Ile1874Phe) c.5512A>T (p.Ile1838Phe) c.5575A>T (p.Ile1859Phe) c.5545A>T (p.Ile1849Phe) c.5617A>T (p.Ile1873Phe) | |
| 3 | g.38550698T>C | CA352140370 | SCN5A | c.5671A>G (p.Ile1891Val) c.5674A>G (p.Ile1892Val) c.5620A>G (p.Ile1874Val) c.5512A>G (p.Ile1838Val) c.5575A>G (p.Ile1859Val) c.5545A>G (p.Ile1849Val) c.5617A>G (p.Ile1873Val) | |
| 3 | g.38550698T>G | CA352140372 | SCN5A | c.5671A>C (p.Ile1891Leu) c.5674A>C (p.Ile1892Leu) c.5620A>C (p.Ile1874Leu) c.5512A>C (p.Ile1838Leu) c.5575A>C (p.Ile1859Leu) c.5545A>C (p.Ile1849Leu) c.5617A>C (p.Ile1873Leu) | |
| 3 | g.38550699G>A | CA433331665 | SCN5A | c.5670C>T (p.Pro1890=) c.5673C>T (p.Pro1891=) c.5619C>T (p.Pro1873=) c.5511C>T (p.Pro1837=) c.5574C>T (p.Pro1858=) c.5544C>T (p.Pro1848=) c.5616C>T (p.Pro1872=) | |
| 3 | g.38550699G>C | CA433331667 | SCN5A | c.5670C>G (p.Pro1890=) c.5673C>G (p.Pro1891=) c.5619C>G (p.Pro1873=) c.5511C>G (p.Pro1837=) c.5574C>G (p.Pro1858=) c.5544C>G (p.Pro1848=) c.5616C>G (p.Pro1872=) | |
| 3 | g.38550699G>T | CA433331668 | SCN5A | c.5670C>A (p.Pro1890=) c.5673C>A (p.Pro1891=) c.5619C>A (p.Pro1873=) c.5511C>A (p.Pro1837=) c.5574C>A (p.Pro1858=) c.5544C>A (p.Pro1848=) c.5616C>A (p.Pro1872=) | |
| 3 | g.38550700G>A | CA352140377 | SCN5A | c.5669C>T (p.Pro1890Leu) c.5672C>T (p.Pro1891Leu) c.5618C>T (p.Pro1873Leu) c.5510C>T (p.Pro1837Leu) c.5573C>T (p.Pro1858Leu) c.5543C>T (p.Pro1848Leu) c.5615C>T (p.Pro1872Leu) | |
| 3 | g.38550700G>C | CA352140373 | SCN5A | c.5669C>G (p.Pro1890Arg) c.5672C>G (p.Pro1891Arg) c.5618C>G (p.Pro1873Arg) c.5510C>G (p.Pro1837Arg) c.5573C>G (p.Pro1858Arg) c.5543C>G (p.Pro1848Arg) c.5615C>G (p.Pro1872Arg) | |
| 3 | g.38550700G>T | CA352140375 | SCN5A | c.5669C>A (p.Pro1890His) c.5672C>A (p.Pro1891His) c.5618C>A (p.Pro1873His) c.5510C>A (p.Pro1837His) c.5573C>A (p.Pro1858His) c.5543C>A (p.Pro1848His) c.5615C>A (p.Pro1872His) | |
| 3 | g.38550701G>A | CA352140379 | SCN5A | c.5668C>T (p.Pro1890Ser) c.5671C>T (p.Pro1891Ser) c.5617C>T (p.Pro1873Ser) c.5509C>T (p.Pro1837Ser) c.5572C>T (p.Pro1858Ser) c.5542C>T (p.Pro1848Ser) c.5614C>T (p.Pro1872Ser) | |
| 3 | g.38550701G>C | CA019410 | SCN5A | c.5668C>G (p.Pro1890Ala) c.5671C>G (p.Pro1891Ala) c.5617C>G (p.Pro1873Ala) c.5509C>G (p.Pro1837Ala) c.5572C>G (p.Pro1858Ala) c.5542C>G (p.Pro1848Ala) c.5614C>G (p.Pro1872Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550701G= | CA1358556447 | SCN5A | c.5668C= (p.Pro1890=) c.5671C= (p.Pro1891=) c.5617C= (p.Pro1873=) c.5509C= (p.Pro1837=) c.5572C= (p.Pro1858=) c.5542C= (p.Pro1848=) c.5614C= (p.Pro1872=) | |
| 3 | g.38550701G>T | CA352140381 | SCN5A | c.5668C>A (p.Pro1890Thr) c.5671C>A (p.Pro1891Thr) c.5617C>A (p.Pro1873Thr) c.5509C>A (p.Pro1837Thr) c.5572C>A (p.Pro1858Thr) c.5542C>A (p.Pro1848Thr) c.5614C>A (p.Pro1872Thr) | |
| 3 | g.38550702C>A | CA352140383 | SCN5A | c.5667G>T (p.Glu1889Asp) c.5670G>T (p.Glu1890Asp) c.5616G>T (p.Glu1872Asp) c.5508G>T (p.Glu1836Asp) c.5571G>T (p.Glu1857Asp) c.5541G>T (p.Glu1847Asp) c.5613G>T (p.Glu1871Asp) | |
| 3 | g.38550702C>G | CA352140385 | SCN5A | c.5667G>C (p.Glu1889Asp) c.5670G>C (p.Glu1890Asp) c.5616G>C (p.Glu1872Asp) c.5508G>C (p.Glu1836Asp) c.5571G>C (p.Glu1857Asp) c.5541G>C (p.Glu1847Asp) c.5613G>C (p.Glu1871Asp) | |
| 3 | g.38550702C>T | CA433331670 | SCN5A | c.5667G>A (p.Glu1889=) c.5670G>A (p.Glu1890=) c.5616G>A (p.Glu1872=) c.5508G>A (p.Glu1836=) c.5571G>A (p.Glu1857=) c.5541G>A (p.Glu1847=) c.5613G>A (p.Glu1871=) |