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.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=) | |
| 3 | g.38550703T>A | CA352140387 | SCN5A | c.5666A>T (p.Glu1889Val) c.5669A>T (p.Glu1890Val) c.5615A>T (p.Glu1872Val) c.5507A>T (p.Glu1836Val) c.5570A>T (p.Glu1857Val) c.5540A>T (p.Glu1847Val) c.5612A>T (p.Glu1871Val) | |
| 3 | g.38550703T>C | CA352140389 | SCN5A | c.5666A>G (p.Glu1889Gly) c.5669A>G (p.Glu1890Gly) c.5615A>G (p.Glu1872Gly) c.5507A>G (p.Glu1836Gly) c.5570A>G (p.Glu1857Gly) c.5540A>G (p.Glu1847Gly) c.5612A>G (p.Glu1871Gly) | |
| 3 | g.38550703T>G | CA352140390 | SCN5A | c.5666A>C (p.Glu1889Ala) c.5669A>C (p.Glu1890Ala) c.5615A>C (p.Glu1872Ala) c.5507A>C (p.Glu1836Ala) c.5570A>C (p.Glu1857Ala) c.5540A>C (p.Glu1847Ala) c.5612A>C (p.Glu1871Ala) | |
| 3 | g.38550704C>A | CA352140393 | SCN5A | c.5665G>T (p.Glu1889Ter) c.5668G>T (p.Glu1890Ter) c.5614G>T (p.Glu1872Ter) c.5506G>T (p.Glu1836Ter) c.5569G>T (p.Glu1857Ter) c.5539G>T (p.Glu1847Ter) c.5611G>T (p.Glu1871Ter) | dbSNP |
| 3 | g.38550704C= | CA1358556450 | SCN5A | c.5665G= (p.Glu1889=) c.5668G= (p.Glu1890=) c.5614G= (p.Glu1872=) c.5506G= (p.Glu1836=) c.5569G= (p.Glu1857=) c.5539G= (p.Glu1847=) c.5611G= (p.Glu1871=) | |
| 3 | g.38550704C>G | CA352140395 | SCN5A | c.5665G>C (p.Glu1889Gln) c.5668G>C (p.Glu1890Gln) c.5614G>C (p.Glu1872Gln) c.5506G>C (p.Glu1836Gln) c.5569G>C (p.Glu1857Gln) c.5539G>C (p.Glu1847Gln) c.5611G>C (p.Glu1871Gln) | |
| 3 | g.38550704C>T | CA064595 | SCN5A | c.5665G>A (p.Glu1889Lys) c.5668G>A (p.Glu1890Lys) c.5614G>A (p.Glu1872Lys) c.5506G>A (p.Glu1836Lys) c.5569G>A (p.Glu1857Lys) c.5539G>A (p.Glu1847Lys) c.5611G>A (p.Glu1871Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550705G>A | CA433331675 | SCN5A | c.5664C>T (p.Tyr1888=) c.5667C>T (p.Tyr1889=) c.5613C>T (p.Tyr1871=) c.5505C>T (p.Tyr1835=) c.5568C>T (p.Tyr1856=) c.5538C>T (p.Tyr1846=) c.5610C>T (p.Tyr1870=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550705G>C | CA352140397 | SCN5A | c.5664C>G (p.Tyr1888Ter) c.5667C>G (p.Tyr1889Ter) c.5613C>G (p.Tyr1871Ter) c.5505C>G (p.Tyr1835Ter) c.5568C>G (p.Tyr1856Ter) c.5538C>G (p.Tyr1846Ter) c.5610C>G (p.Tyr1870Ter) | |
| 3 | g.38550705G= | CA1358556460 | SCN5A | c.5664C= (p.Tyr1888=) c.5667C= (p.Tyr1889=) c.5613C= (p.Tyr1871=) c.5505C= (p.Tyr1835=) c.5568C= (p.Tyr1856=) c.5538C= (p.Tyr1846=) c.5610C= (p.Tyr1870=) | |
| 3 | g.38550705G>T | CA352140398 | SCN5A | c.5664C>A (p.Tyr1888Ter) c.5667C>A (p.Tyr1889Ter) c.5613C>A (p.Tyr1871Ter) c.5505C>A (p.Tyr1835Ter) c.5568C>A (p.Tyr1856Ter) c.5538C>A (p.Tyr1846Ter) c.5610C>A (p.Tyr1870Ter) | |
| 3 | g.38550706T>A | CA352140403 | SCN5A | c.5663A>T (p.Tyr1888Phe) c.5666A>T (p.Tyr1889Phe) c.5612A>T (p.Tyr1871Phe) c.5504A>T (p.Tyr1835Phe) c.5567A>T (p.Tyr1856Phe) c.5537A>T (p.Tyr1846Phe) c.5609A>T (p.Tyr1870Phe) | |
| 3 | g.38550706T>C | CA72937852 | SCN5A | c.5663A>G (p.Tyr1888Cys) c.5666A>G (p.Tyr1889Cys) c.5612A>G (p.Tyr1871Cys) c.5504A>G (p.Tyr1835Cys) c.5567A>G (p.Tyr1856Cys) c.5537A>G (p.Tyr1846Cys) c.5609A>G (p.Tyr1870Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550706T>G | CA352140401 | SCN5A | c.5663A>C (p.Tyr1888Ser) c.5666A>C (p.Tyr1889Ser) c.5612A>C (p.Tyr1871Ser) c.5504A>C (p.Tyr1835Ser) c.5567A>C (p.Tyr1856Ser) c.5537A>C (p.Tyr1846Ser) c.5609A>C (p.Tyr1870Ser) | |
| 3 | g.38550706T= | CA1358556464 | SCN5A | c.5663A= (p.Tyr1888=) c.5666A= (p.Tyr1889=) c.5612A= (p.Tyr1871=) c.5504A= (p.Tyr1835=) c.5567A= (p.Tyr1856=) c.5537A= (p.Tyr1846=) c.5609A= (p.Tyr1870=) | |
| 3 | g.38550707A>C | CA352140405 | SCN5A | c.5662T>G (p.Tyr1888Asp) c.5665T>G (p.Tyr1889Asp) c.5611T>G (p.Tyr1871Asp) c.5503T>G (p.Tyr1835Asp) c.5566T>G (p.Tyr1856Asp) c.5536T>G (p.Tyr1846Asp) c.5608T>G (p.Tyr1870Asp) | |
| 3 | g.38550707A>G | CA352140406 | SCN5A | c.5662T>C (p.Tyr1888His) c.5665T>C (p.Tyr1889His) c.5611T>C (p.Tyr1871His) c.5503T>C (p.Tyr1835His) c.5566T>C (p.Tyr1856His) c.5536T>C (p.Tyr1846His) c.5608T>C (p.Tyr1870His) | |
| 3 | g.38550707A>T | CA352140408 | SCN5A | c.5662T>A (p.Tyr1888Asn) c.5665T>A (p.Tyr1889Asn) c.5611T>A (p.Tyr1871Asn) c.5503T>A (p.Tyr1835Asn) c.5566T>A (p.Tyr1856Asn) c.5536T>A (p.Tyr1846Asn) c.5608T>A (p.Tyr1870Asn) | |
| 3 | g.38550709_38550711del | CA2580069737 | SCN5A | c.5660_5662del (p.Ser1887del) c.5663_5665del (p.Ser1888del) c.5609_5611del (p.Ser1870del) c.5501_5503del (p.Ser1834del) c.5564_5566del (p.Ser1855del) c.5534_5536del (p.Ser1845del) c.5606_5608del (p.Ser1869del) | ClinVar |
| 3 | g.38550708G>A | CA064589 | SCN5A | c.5661C>T (p.Ser1887=) c.5664C>T (p.Ser1888=) c.5610C>T (p.Ser1870=) c.5502C>T (p.Ser1834=) c.5565C>T (p.Ser1855=) c.5535C>T (p.Ser1845=) c.5607C>T (p.Ser1869=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550708G>C | CA433331681 | SCN5A | c.5661C>G (p.Ser1887=) c.5664C>G (p.Ser1888=) c.5610C>G (p.Ser1870=) c.5502C>G (p.Ser1834=) c.5565C>G (p.Ser1855=) c.5535C>G (p.Ser1845=) c.5607C>G (p.Ser1869=) | gnomAD v4 |
| 3 | g.38550708G= | CA1358556469 | SCN5A | c.5661C= (p.Ser1887=) c.5664C= (p.Ser1888=) c.5610C= (p.Ser1870=) c.5502C= (p.Ser1834=) c.5565C= (p.Ser1855=) c.5535C= (p.Ser1845=) c.5607C= (p.Ser1869=) | |
| 3 | g.38550708G>T | CA433331680 | SCN5A | c.5661C>A (p.Ser1887=) c.5664C>A (p.Ser1888=) c.5610C>A (p.Ser1870=) c.5502C>A (p.Ser1834=) c.5565C>A (p.Ser1855=) c.5535C>A (p.Ser1845=) c.5607C>A (p.Ser1869=) | |
| 3 | g.38550709G>A | CA352140411 | SCN5A | c.5660C>T (p.Ser1887Phe) c.5663C>T (p.Ser1888Phe) c.5609C>T (p.Ser1870Phe) c.5501C>T (p.Ser1834Phe) c.5564C>T (p.Ser1855Phe) c.5534C>T (p.Ser1845Phe) c.5606C>T (p.Ser1869Phe) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38550709G>C | CA352140412 | SCN5A | c.5660C>G (p.Ser1887Cys) c.5663C>G (p.Ser1888Cys) c.5609C>G (p.Ser1870Cys) c.5501C>G (p.Ser1834Cys) c.5564C>G (p.Ser1855Cys) c.5534C>G (p.Ser1845Cys) c.5606C>G (p.Ser1869Cys) | |
| 3 | g.38550709G>T | CA352140414 | SCN5A | c.5660C>A (p.Ser1887Tyr) c.5663C>A (p.Ser1888Tyr) c.5609C>A (p.Ser1870Tyr) c.5501C>A (p.Ser1834Tyr) c.5564C>A (p.Ser1855Tyr) c.5534C>A (p.Ser1845Tyr) c.5606C>A (p.Ser1869Tyr) | |
| 3 | g.38550710A>C | CA352140420 | SCN5A | c.5659T>G (p.Ser1887Ala) c.5662T>G (p.Ser1888Ala) c.5608T>G (p.Ser1870Ala) c.5500T>G (p.Ser1834Ala) c.5563T>G (p.Ser1855Ala) c.5533T>G (p.Ser1845Ala) c.5605T>G (p.Ser1869Ala) | |
| 3 | g.38550710A>G | CA352140417 | SCN5A | c.5659T>C (p.Ser1887Pro) c.5662T>C (p.Ser1888Pro) c.5608T>C (p.Ser1870Pro) c.5500T>C (p.Ser1834Pro) c.5563T>C (p.Ser1855Pro) c.5533T>C (p.Ser1845Pro) c.5605T>C (p.Ser1869Pro) | gnomAD v4 |
| 3 | g.38550710A>T | CA352140419 | SCN5A | c.5659T>A (p.Ser1887Thr) c.5662T>A (p.Ser1888Thr) c.5608T>A (p.Ser1870Thr) c.5500T>A (p.Ser1834Thr) c.5563T>A (p.Ser1855Thr) c.5533T>A (p.Ser1845Thr) c.5605T>A (p.Ser1869Thr) | |
| 3 | g.38550711G>A | CA72937855 | SCN5A | c.5658C>T (p.Ile1886=) c.5661C>T (p.Ile1887=) c.5607C>T (p.Ile1869=) c.5499C>T (p.Ile1833=) c.5562C>T (p.Ile1854=) c.5532C>T (p.Ile1844=) c.5604C>T (p.Ile1868=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550711G>C | CA352140422 | SCN5A | c.5658C>G (p.Ile1886Met) c.5661C>G (p.Ile1887Met) c.5607C>G (p.Ile1869Met) c.5499C>G (p.Ile1833Met) c.5562C>G (p.Ile1854Met) c.5532C>G (p.Ile1844Met) c.5604C>G (p.Ile1868Met) | |
| 3 | g.38550711G= | CA1358556473 | SCN5A | c.5658C= (p.Ile1886=) c.5661C= (p.Ile1887=) c.5607C= (p.Ile1869=) c.5499C= (p.Ile1833=) c.5562C= (p.Ile1854=) c.5532C= (p.Ile1844=) c.5604C= (p.Ile1868=) | |
| 3 | g.38550711G>T | CA433331687 | SCN5A | c.5658C>A (p.Ile1886=) c.5661C>A (p.Ile1887=) c.5607C>A (p.Ile1869=) c.5499C>A (p.Ile1833=) c.5562C>A (p.Ile1854=) c.5532C>A (p.Ile1844=) c.5604C>A (p.Ile1868=) | |
| 3 | g.38550712A>C | CA352140424 | SCN5A | c.5657T>G (p.Ile1886Ser) c.5660T>G (p.Ile1887Ser) c.5606T>G (p.Ile1869Ser) c.5498T>G (p.Ile1833Ser) c.5561T>G (p.Ile1854Ser) c.5531T>G (p.Ile1844Ser) c.5603T>G (p.Ile1868Ser) | gnomAD v4 |
| 3 | g.38550712A>G | CA352140426 | SCN5A | c.5657T>C (p.Ile1886Thr) c.5660T>C (p.Ile1887Thr) c.5606T>C (p.Ile1869Thr) c.5498T>C (p.Ile1833Thr) c.5561T>C (p.Ile1854Thr) c.5531T>C (p.Ile1844Thr) c.5603T>C (p.Ile1868Thr) | |
| 3 | g.38550712A>T | CA352140427 | SCN5A | c.5657T>A (p.Ile1886Asn) c.5660T>A (p.Ile1887Asn) c.5606T>A (p.Ile1869Asn) c.5498T>A (p.Ile1833Asn) c.5561T>A (p.Ile1854Asn) c.5531T>A (p.Ile1844Asn) c.5603T>A (p.Ile1868Asn) | |
| 3 | g.38550713T>A | CA352140430 | SCN5A | c.5656A>T (p.Ile1886Phe) c.5659A>T (p.Ile1887Phe) c.5605A>T (p.Ile1869Phe) c.5497A>T (p.Ile1833Phe) c.5560A>T (p.Ile1854Phe) c.5530A>T (p.Ile1844Phe) c.5602A>T (p.Ile1868Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550713T>C | CA352140434 | SCN5A | c.5656A>G (p.Ile1886Val) c.5659A>G (p.Ile1887Val) c.5605A>G (p.Ile1869Val) c.5497A>G (p.Ile1833Val) c.5560A>G (p.Ile1854Val) c.5530A>G (p.Ile1844Val) c.5602A>G (p.Ile1868Val) | |
| 3 | g.38550713T>G | CA352140432 | SCN5A | c.5656A>C (p.Ile1886Leu) c.5659A>C (p.Ile1887Leu) c.5605A>C (p.Ile1869Leu) c.5497A>C (p.Ile1833Leu) c.5560A>C (p.Ile1854Leu) c.5530A>C (p.Ile1844Leu) c.5602A>C (p.Ile1868Leu) | |
| 3 | g.38550714C>A | CA019405 | SCN5A | c.5655G>T (p.Lys1885Asn) c.5658G>T (p.Lys1886Asn) c.5604G>T (p.Lys1868Asn) c.5496G>T (p.Lys1832Asn) c.5559G>T (p.Lys1853Asn) c.5529G>T (p.Lys1843Asn) c.5601G>T (p.Lys1867Asn) | dbSNP |
| 3 | g.38550714C= | CA1358556479 | SCN5A | c.5655G= (p.Lys1885=) c.5658G= (p.Lys1886=) c.5604G= (p.Lys1868=) c.5496G= (p.Lys1832=) c.5559G= (p.Lys1853=) c.5529G= (p.Lys1843=) c.5601G= (p.Lys1867=) | |
| 3 | g.38550714C>G | CA352140436 | SCN5A | c.5655G>C (p.Lys1885Asn) c.5658G>C (p.Lys1886Asn) c.5604G>C (p.Lys1868Asn) c.5496G>C (p.Lys1832Asn) c.5559G>C (p.Lys1853Asn) c.5529G>C (p.Lys1843Asn) c.5601G>C (p.Lys1867Asn) | |
| 3 | g.38550714C>T | CA433331692 | SCN5A | c.5655G>A (p.Lys1885=) c.5658G>A (p.Lys1886=) c.5604G>A (p.Lys1868=) c.5496G>A (p.Lys1832=) c.5559G>A (p.Lys1853=) c.5529G>A (p.Lys1843=) c.5601G>A (p.Lys1867=) | |
| 3 | g.38550715T>A | CA352140439 | SCN5A | c.5654A>T (p.Lys1885Met) c.5657A>T (p.Lys1886Met) c.5603A>T (p.Lys1868Met) c.5495A>T (p.Lys1832Met) c.5558A>T (p.Lys1853Met) c.5528A>T (p.Lys1843Met) c.5600A>T (p.Lys1867Met) | |
| 3 | g.38550715T>C | CA352140440 | SCN5A | c.5654A>G (p.Lys1885Arg) c.5657A>G (p.Lys1886Arg) c.5603A>G (p.Lys1868Arg) c.5495A>G (p.Lys1832Arg) c.5558A>G (p.Lys1853Arg) c.5528A>G (p.Lys1843Arg) c.5600A>G (p.Lys1867Arg) | |
| 3 | g.38550715T>G | CA352140442 | SCN5A | c.5654A>C (p.Lys1885Thr) c.5657A>C (p.Lys1886Thr) c.5603A>C (p.Lys1868Thr) c.5495A>C (p.Lys1832Thr) c.5558A>C (p.Lys1853Thr) c.5528A>C (p.Lys1843Thr) c.5600A>C (p.Lys1867Thr) | ClinVar dbSNP |
| 3 | g.38550716T>A | CA352140444 | SCN5A | c.5653A>T (p.Lys1885Ter) c.5656A>T (p.Lys1886Ter) c.5602A>T (p.Lys1868Ter) c.5494A>T (p.Lys1832Ter) c.5557A>T (p.Lys1853Ter) c.5527A>T (p.Lys1843Ter) c.5599A>T (p.Lys1867Ter) | dbSNP |
| 3 | g.38550716T>C | CA352140446 | SCN5A | c.5653A>G (p.Lys1885Glu) c.5656A>G (p.Lys1886Glu) c.5602A>G (p.Lys1868Glu) c.5494A>G (p.Lys1832Glu) c.5557A>G (p.Lys1853Glu) c.5527A>G (p.Lys1843Glu) c.5599A>G (p.Lys1867Glu) | ClinVar |
| 3 | g.38550716T>G | CA352140447 | SCN5A | c.5653A>C (p.Lys1885Gln) c.5656A>C (p.Lys1886Gln) c.5602A>C (p.Lys1868Gln) c.5494A>C (p.Lys1832Gln) c.5557A>C (p.Lys1853Gln) c.5527A>C (p.Lys1843Gln) c.5599A>C (p.Lys1867Gln) | |
| 3 | g.38550716T= | CA1358556482 | SCN5A | c.5653A= (p.Lys1885=) c.5656A= (p.Lys1886=) c.5602A= (p.Lys1868=) c.5494A= (p.Lys1832=) c.5557A= (p.Lys1853=) c.5527A= (p.Lys1843=) c.5599A= (p.Lys1867=) | |
| 3 | g.38550717G>A | CA433331705 | SCN5A | c.5652C>T (p.Ser1884=) c.5655C>T (p.Ser1885=) c.5601C>T (p.Ser1867=) c.5493C>T (p.Ser1831=) c.5556C>T (p.Ser1852=) c.5526C>T (p.Ser1842=) c.5598C>T (p.Ser1866=) | |
| 3 | g.38550717G>C | CA433331707 | SCN5A | c.5652C>G (p.Ser1884=) c.5655C>G (p.Ser1885=) c.5601C>G (p.Ser1867=) c.5493C>G (p.Ser1831=) c.5556C>G (p.Ser1852=) c.5526C>G (p.Ser1842=) c.5598C>G (p.Ser1866=) | |
| 3 | g.38550717G>T | CA433331708 | SCN5A | c.5652C>A (p.Ser1884=) c.5655C>A (p.Ser1885=) c.5601C>A (p.Ser1867=) c.5493C>A (p.Ser1831=) c.5556C>A (p.Ser1852=) c.5526C>A (p.Ser1842=) c.5598C>A (p.Ser1866=) | |
| 3 | g.38550718G>A | CA352140449 | SCN5A | c.5651C>T (p.Ser1884Phe) c.5654C>T (p.Ser1885Phe) c.5600C>T (p.Ser1867Phe) c.5492C>T (p.Ser1831Phe) c.5555C>T (p.Ser1852Phe) c.5525C>T (p.Ser1842Phe) c.5597C>T (p.Ser1866Phe) | |
| 3 | g.38550718G>C | CA352140451 | SCN5A | c.5651C>G (p.Ser1884Cys) c.5654C>G (p.Ser1885Cys) c.5600C>G (p.Ser1867Cys) c.5492C>G (p.Ser1831Cys) c.5555C>G (p.Ser1852Cys) c.5525C>G (p.Ser1842Cys) c.5597C>G (p.Ser1866Cys) | |
| 3 | g.38550718G>T | CA352140452 | SCN5A | c.5651C>A (p.Ser1884Tyr) c.5654C>A (p.Ser1885Tyr) c.5600C>A (p.Ser1867Tyr) c.5492C>A (p.Ser1831Tyr) c.5555C>A (p.Ser1852Tyr) c.5525C>A (p.Ser1842Tyr) c.5597C>A (p.Ser1866Tyr) | gnomAD v4 |
| 3 | g.38550719A>C | CA352140455 | SCN5A | c.5650T>G (p.Ser1884Ala) c.5653T>G (p.Ser1885Ala) c.5599T>G (p.Ser1867Ala) c.5491T>G (p.Ser1831Ala) c.5554T>G (p.Ser1852Ala) c.5524T>G (p.Ser1842Ala) c.5596T>G (p.Ser1866Ala) | |
| 3 | g.38550719A>G | CA352140458 | SCN5A | c.5650T>C (p.Ser1884Pro) c.5653T>C (p.Ser1885Pro) c.5599T>C (p.Ser1867Pro) c.5491T>C (p.Ser1831Pro) c.5554T>C (p.Ser1852Pro) c.5524T>C (p.Ser1842Pro) c.5596T>C (p.Ser1866Pro) | |
| 3 | g.38550719A>T | CA352140456 | SCN5A | c.5650T>A (p.Ser1884Thr) c.5653T>A (p.Ser1885Thr) c.5599T>A (p.Ser1867Thr) c.5491T>A (p.Ser1831Thr) c.5554T>A (p.Ser1852Thr) c.5524T>A (p.Ser1842Thr) c.5596T>A (p.Ser1866Thr) | |
| 3 | g.38550720T>A | CA433331715 | SCN5A | c.5649A>T (p.Pro1883=) c.5652A>T (p.Pro1884=) c.5598A>T (p.Pro1866=) c.5490A>T (p.Pro1830=) c.5553A>T (p.Pro1851=) c.5523A>T (p.Pro1841=) c.5595A>T (p.Pro1865=) | |
| 3 | g.38550720T>C | CA433331717 | SCN5A | c.5649A>G (p.Pro1883=) c.5652A>G (p.Pro1884=) c.5598A>G (p.Pro1866=) c.5490A>G (p.Pro1830=) c.5553A>G (p.Pro1851=) c.5523A>G (p.Pro1841=) c.5595A>G (p.Pro1865=) | |
| 3 | g.38550720T>G | CA433331719 | SCN5A | c.5649A>C (p.Pro1883=) c.5652A>C (p.Pro1884=) c.5598A>C (p.Pro1866=) c.5490A>C (p.Pro1830=) c.5553A>C (p.Pro1851=) c.5523A>C (p.Pro1841=) c.5595A>C (p.Pro1865=) | |
| 3 | g.38550721G>A | CA064584 | SCN5A | c.5648C>T (p.Pro1883Leu) c.5651C>T (p.Pro1884Leu) c.5597C>T (p.Pro1866Leu) c.5489C>T (p.Pro1830Leu) c.5552C>T (p.Pro1851Leu) c.5522C>T (p.Pro1841Leu) c.5594C>T (p.Pro1865Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550721G>C | CA352140461 | SCN5A | c.5648C>G (p.Pro1883Arg) c.5651C>G (p.Pro1884Arg) c.5597C>G (p.Pro1866Arg) c.5489C>G (p.Pro1830Arg) c.5552C>G (p.Pro1851Arg) c.5522C>G (p.Pro1841Arg) c.5594C>G (p.Pro1865Arg) | |
| 3 | g.38550721G= | CA1358556485 | SCN5A | c.5648C= (p.Pro1883=) c.5651C= (p.Pro1884=) c.5597C= (p.Pro1866=) c.5489C= (p.Pro1830=) c.5552C= (p.Pro1851=) c.5522C= (p.Pro1841=) c.5594C= (p.Pro1865=) | |
| 3 | g.38550721G>T | CA352140463 | SCN5A | c.5648C>A (p.Pro1883Gln) c.5651C>A (p.Pro1884Gln) c.5597C>A (p.Pro1866Gln) c.5489C>A (p.Pro1830Gln) c.5552C>A (p.Pro1851Gln) c.5522C>A (p.Pro1841Gln) c.5594C>A (p.Pro1865Gln) | |
| 3 | g.38550722G>A | CA352140464 | SCN5A | c.5647C>T (p.Pro1883Ser) c.5650C>T (p.Pro1884Ser) c.5596C>T (p.Pro1866Ser) c.5488C>T (p.Pro1830Ser) c.5551C>T (p.Pro1851Ser) c.5521C>T (p.Pro1841Ser) c.5593C>T (p.Pro1865Ser) | gnomAD v4 |
| 3 | g.38550722G>C | CA352140466 | SCN5A | c.5647C>G (p.Pro1883Ala) c.5650C>G (p.Pro1884Ala) c.5596C>G (p.Pro1866Ala) c.5488C>G (p.Pro1830Ala) c.5551C>G (p.Pro1851Ala) c.5521C>G (p.Pro1841Ala) c.5593C>G (p.Pro1865Ala) | |
| 3 | g.38550722G= | CA1358556491 | SCN5A | c.5647C= (p.Pro1883=) c.5650C= (p.Pro1884=) c.5596C= (p.Pro1866=) c.5488C= (p.Pro1830=) c.5551C= (p.Pro1851=) c.5521C= (p.Pro1841=) c.5593C= (p.Pro1865=) | |
| 3 | g.38550722G>T | CA352140468 | SCN5A | c.5647C>A (p.Pro1883Thr) c.5650C>A (p.Pro1884Thr) c.5596C>A (p.Pro1866Thr) c.5488C>A (p.Pro1830Thr) c.5551C>A (p.Pro1851Thr) c.5521C>A (p.Pro1841Thr) c.5593C>A (p.Pro1865Thr) | dbSNP gnomAD v4 |
| 3 | g.38550723G>A | CA433331727 | SCN5A | c.5646C>T (p.Asn1882=) c.5649C>T (p.Asn1883=) c.5595C>T (p.Asn1865=) c.5487C>T (p.Asn1829=) c.5550C>T (p.Asn1850=) c.5520C>T (p.Asn1840=) c.5592C>T (p.Asn1864=) | |
| 3 | g.38550723G>C | CA352140469 | SCN5A | c.5646C>G (p.Asn1882Lys) c.5649C>G (p.Asn1883Lys) c.5595C>G (p.Asn1865Lys) c.5487C>G (p.Asn1829Lys) c.5550C>G (p.Asn1850Lys) c.5520C>G (p.Asn1840Lys) c.5592C>G (p.Asn1864Lys) | |
| 3 | g.38550723G>T | CA352140470 | SCN5A | c.5646C>A (p.Asn1882Lys) c.5649C>A (p.Asn1883Lys) c.5595C>A (p.Asn1865Lys) c.5487C>A (p.Asn1829Lys) c.5550C>A (p.Asn1850Lys) c.5520C>A (p.Asn1840Lys) c.5592C>A (p.Asn1864Lys) | |
| 3 | g.38550724T>A | CA352140473 | SCN5A | c.5645A>T (p.Asn1882Ile) c.5648A>T (p.Asn1883Ile) c.5594A>T (p.Asn1865Ile) c.5486A>T (p.Asn1829Ile) c.5549A>T (p.Asn1850Ile) c.5519A>T (p.Asn1840Ile) c.5591A>T (p.Asn1864Ile) | |
| 3 | g.38550724T>C | CA352140477 | SCN5A | c.5645A>G (p.Asn1882Ser) c.5648A>G (p.Asn1883Ser) c.5594A>G (p.Asn1865Ser) c.5486A>G (p.Asn1829Ser) c.5549A>G (p.Asn1850Ser) c.5519A>G (p.Asn1840Ser) c.5591A>G (p.Asn1864Ser) | |
| 3 | g.38550724T>G | CA352140475 | SCN5A | c.5645A>C (p.Asn1882Thr) c.5648A>C (p.Asn1883Thr) c.5594A>C (p.Asn1865Thr) c.5486A>C (p.Asn1829Thr) c.5549A>C (p.Asn1850Thr) c.5519A>C (p.Asn1840Thr) c.5591A>C (p.Asn1864Thr) | |
| 3 | g.38550725T>A | CA352140479 | SCN5A | c.5644A>T (p.Asn1882Tyr) c.5647A>T (p.Asn1883Tyr) c.5593A>T (p.Asn1865Tyr) c.5485A>T (p.Asn1829Tyr) c.5548A>T (p.Asn1850Tyr) c.5518A>T (p.Asn1840Tyr) c.5590A>T (p.Asn1864Tyr) | |
| 3 | g.38550725T>C | CA352140481 | SCN5A | c.5644A>G (p.Asn1882Asp) c.5647A>G (p.Asn1883Asp) c.5593A>G (p.Asn1865Asp) c.5485A>G (p.Asn1829Asp) c.5548A>G (p.Asn1850Asp) c.5518A>G (p.Asn1840Asp) c.5590A>G (p.Asn1864Asp) | |
| 3 | g.38550725T>G | CA352140483 | SCN5A | c.5644A>C (p.Asn1882His) c.5647A>C (p.Asn1883His) c.5593A>C (p.Asn1865His) c.5485A>C (p.Asn1829His) c.5548A>C (p.Asn1850His) c.5518A>C (p.Asn1840His) c.5590A>C (p.Asn1864His) | |
| 3 | g.38550726G>A | CA064578 | SCN5A | c.5643C>T (p.Ala1881=) c.5646C>T (p.Ala1882=) c.5592C>T (p.Ala1864=) c.5484C>T (p.Ala1828=) c.5547C>T (p.Ala1849=) c.5517C>T (p.Ala1839=) c.5589C>T (p.Ala1863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550726G>C | CA433331735 | SCN5A | c.5643C>G (p.Ala1881=) c.5646C>G (p.Ala1882=) c.5592C>G (p.Ala1864=) c.5484C>G (p.Ala1828=) c.5547C>G (p.Ala1849=) c.5517C>G (p.Ala1839=) c.5589C>G (p.Ala1863=) | |
| 3 | g.38550726G= | CA1358556495 | SCN5A | c.5643C= (p.Ala1881=) c.5646C= (p.Ala1882=) c.5592C= (p.Ala1864=) c.5484C= (p.Ala1828=) c.5547C= (p.Ala1849=) c.5517C= (p.Ala1839=) c.5589C= (p.Ala1863=) | |
| 3 | g.38550726G>T | CA433331737 | SCN5A | c.5643C>A (p.Ala1881=) c.5646C>A (p.Ala1882=) c.5592C>A (p.Ala1864=) c.5484C>A (p.Ala1828=) c.5547C>A (p.Ala1849=) c.5517C>A (p.Ala1839=) c.5589C>A (p.Ala1863=) | COSMIC COSMIC COSMIC |
| 3 | g.38550727G>A | CA352140486 | SCN5A | c.5642C>T (p.Ala1881Val) c.5645C>T (p.Ala1882Val) c.5591C>T (p.Ala1864Val) c.5483C>T (p.Ala1828Val) c.5546C>T (p.Ala1849Val) c.5516C>T (p.Ala1839Val) c.5588C>T (p.Ala1863Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550727G>C | CA352140489 | SCN5A | c.5642C>G (p.Ala1881Gly) c.5645C>G (p.Ala1882Gly) c.5591C>G (p.Ala1864Gly) c.5483C>G (p.Ala1828Gly) c.5546C>G (p.Ala1849Gly) c.5516C>G (p.Ala1839Gly) c.5588C>G (p.Ala1863Gly) | |
| 3 | g.38550727G= | CA1358556500 | SCN5A | c.5642C= (p.Ala1881=) c.5645C= (p.Ala1882=) c.5591C= (p.Ala1864=) c.5483C= (p.Ala1828=) c.5546C= (p.Ala1849=) c.5516C= (p.Ala1839=) c.5588C= (p.Ala1863=) | |
| 3 | g.38550727G>T | CA352140488 | SCN5A | c.5642C>A (p.Ala1881Asp) c.5645C>A (p.Ala1882Asp) c.5591C>A (p.Ala1864Asp) c.5483C>A (p.Ala1828Asp) c.5546C>A (p.Ala1849Asp) c.5516C>A (p.Ala1839Asp) c.5588C>A (p.Ala1863Asp) | |
| 3 | g.38550728C>A | CA352140492 | SCN5A | c.5641G>T (p.Ala1881Ser) c.5644G>T (p.Ala1882Ser) c.5590G>T (p.Ala1864Ser) c.5482G>T (p.Ala1828Ser) c.5545G>T (p.Ala1849Ser) c.5515G>T (p.Ala1839Ser) c.5587G>T (p.Ala1863Ser) | |
| 3 | g.38550728C>G | CA352140494 | SCN5A | c.5641G>C (p.Ala1881Pro) c.5644G>C (p.Ala1882Pro) c.5590G>C (p.Ala1864Pro) c.5482G>C (p.Ala1828Pro) c.5545G>C (p.Ala1849Pro) c.5515G>C (p.Ala1839Pro) c.5587G>C (p.Ala1863Pro) | |
| 3 | g.38550728C>T | CA352140496 | SCN5A | c.5641G>A (p.Ala1881Thr) c.5644G>A (p.Ala1882Thr) c.5590G>A (p.Ala1864Thr) c.5482G>A (p.Ala1828Thr) c.5545G>A (p.Ala1849Thr) c.5515G>A (p.Ala1839Thr) c.5587G>A (p.Ala1863Thr) | |
| 3 | g.38550729T>A | CA433331741 | SCN5A | c.5640A>T (p.Ala1880=) c.5643A>T (p.Ala1881=) c.5589A>T (p.Ala1863=) c.5481A>T (p.Ala1827=) c.5544A>T (p.Ala1848=) c.5514A>T (p.Ala1838=) c.5586A>T (p.Ala1862=) | |
| 3 | g.38550729T>C | CA433331742 | SCN5A | c.5640A>G (p.Ala1880=) c.5643A>G (p.Ala1881=) c.5589A>G (p.Ala1863=) c.5481A>G (p.Ala1827=) c.5544A>G (p.Ala1848=) c.5514A>G (p.Ala1838=) c.5586A>G (p.Ala1862=) | |
| 3 | g.38550729T>G | CA433331743 | SCN5A | c.5640A>C (p.Ala1880=) c.5643A>C (p.Ala1881=) c.5589A>C (p.Ala1863=) c.5481A>C (p.Ala1827=) c.5544A>C (p.Ala1848=) c.5514A>C (p.Ala1838=) c.5586A>C (p.Ala1862=) | |
| 3 | g.38550730G>A | CA352140498 | SCN5A | c.5639C>T (p.Ala1880Val) c.5642C>T (p.Ala1881Val) c.5588C>T (p.Ala1863Val) c.5480C>T (p.Ala1827Val) c.5543C>T (p.Ala1848Val) c.5513C>T (p.Ala1838Val) c.5585C>T (p.Ala1862Val) | |
| 3 | g.38550730G>C | CA352140499 | SCN5A | c.5639C>G (p.Ala1880Gly) c.5642C>G (p.Ala1881Gly) c.5588C>G (p.Ala1863Gly) c.5480C>G (p.Ala1827Gly) c.5543C>G (p.Ala1848Gly) c.5513C>G (p.Ala1838Gly) c.5585C>G (p.Ala1862Gly) | |
| 3 | g.38550730G>T | CA352140501 | SCN5A | c.5639C>A (p.Ala1880Glu) c.5642C>A (p.Ala1881Glu) c.5588C>A (p.Ala1863Glu) c.5480C>A (p.Ala1827Glu) c.5543C>A (p.Ala1848Glu) c.5513C>A (p.Ala1838Glu) c.5585C>A (p.Ala1862Glu) | |
| 3 | g.38550731C>A | CA352140503 | SCN5A | c.5638G>T (p.Ala1880Ser) c.5641G>T (p.Ala1881Ser) c.5587G>T (p.Ala1863Ser) c.5479G>T (p.Ala1827Ser) c.5542G>T (p.Ala1848Ser) c.5512G>T (p.Ala1838Ser) c.5584G>T (p.Ala1862Ser) | |
| 3 | g.38550731C>G | CA352140505 | SCN5A | c.5638G>C (p.Ala1880Pro) c.5641G>C (p.Ala1881Pro) c.5587G>C (p.Ala1863Pro) c.5479G>C (p.Ala1827Pro) c.5542G>C (p.Ala1848Pro) c.5512G>C (p.Ala1838Pro) c.5584G>C (p.Ala1862Pro) | |
| 3 | g.38550731C>T | CA352140507 | SCN5A | c.5638G>A (p.Ala1880Thr) c.5641G>A (p.Ala1881Thr) c.5587G>A (p.Ala1863Thr) c.5479G>A (p.Ala1827Thr) c.5542G>A (p.Ala1848Thr) c.5512G>A (p.Ala1838Thr) c.5584G>A (p.Ala1862Thr) | |
| 3 | g.38550732C>A | CA352140508 | SCN5A | c.5637G>T (p.Met1879Ile) c.5640G>T (p.Met1880Ile) c.5586G>T (p.Met1862Ile) c.5478G>T (p.Met1826Ile) c.5541G>T (p.Met1847Ile) c.5511G>T (p.Met1837Ile) c.5583G>T (p.Met1861Ile) | |
| 3 | g.38550732C>G | CA352140510 | SCN5A | c.5637G>C (p.Met1879Ile) c.5640G>C (p.Met1880Ile) c.5586G>C (p.Met1862Ile) c.5478G>C (p.Met1826Ile) c.5541G>C (p.Met1847Ile) c.5511G>C (p.Met1837Ile) c.5583G>C (p.Met1861Ile) | |
| 3 | g.38550732C>T | CA352140512 | SCN5A | c.5637G>A (p.Met1879Ile) c.5640G>A (p.Met1880Ile) c.5586G>A (p.Met1862Ile) c.5478G>A (p.Met1826Ile) c.5541G>A (p.Met1847Ile) c.5511G>A (p.Met1837Ile) c.5583G>A (p.Met1861Ile) | ClinVar gnomAD v4 |
| 3 | g.38550733A>C | CA352140514 | SCN5A | c.5636T>G (p.Met1879Arg) c.5639T>G (p.Met1880Arg) c.5585T>G (p.Met1862Arg) c.5477T>G (p.Met1826Arg) c.5540T>G (p.Met1847Arg) c.5510T>G (p.Met1837Arg) c.5582T>G (p.Met1861Arg) | |
| 3 | g.38550733A>G | CA352140518 | SCN5A | c.5636T>C (p.Met1879Thr) c.5639T>C (p.Met1880Thr) c.5585T>C (p.Met1862Thr) c.5477T>C (p.Met1826Thr) c.5540T>C (p.Met1847Thr) c.5510T>C (p.Met1837Thr) c.5582T>C (p.Met1861Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550733A>T | CA352140516 | SCN5A | c.5636T>A (p.Met1879Lys) c.5639T>A (p.Met1880Lys) c.5585T>A (p.Met1862Lys) c.5477T>A (p.Met1826Lys) c.5540T>A (p.Met1847Lys) c.5510T>A (p.Met1837Lys) c.5582T>A (p.Met1861Lys) | |
| 3 | g.38550734T>A | CA352140519 | SCN5A | c.5635A>T (p.Met1879Leu) c.5638A>T (p.Met1880Leu) c.5584A>T (p.Met1862Leu) c.5476A>T (p.Met1826Leu) c.5539A>T (p.Met1847Leu) c.5509A>T (p.Met1837Leu) c.5581A>T (p.Met1861Leu) | |
| 3 | g.38550734T>C | CA352140520 | SCN5A | c.5635A>G (p.Met1879Val) c.5638A>G (p.Met1880Val) c.5584A>G (p.Met1862Val) c.5476A>G (p.Met1826Val) c.5539A>G (p.Met1847Val) c.5509A>G (p.Met1837Val) c.5581A>G (p.Met1861Val) | gnomAD v4 |
| 3 | g.38550734T>G | CA352140521 | SCN5A | c.5635A>C (p.Met1879Leu) c.5638A>C (p.Met1880Leu) c.5584A>C (p.Met1862Leu) c.5476A>C (p.Met1826Leu) c.5539A>C (p.Met1847Leu) c.5509A>C (p.Met1837Leu) c.5581A>C (p.Met1861Leu) | |
| 3 | g.38550735G>A | CA433331767 | SCN5A | c.5634C>T (p.Phe1878=) c.5637C>T (p.Phe1879=) c.5583C>T (p.Phe1861=) c.5475C>T (p.Phe1825=) c.5538C>T (p.Phe1846=) c.5508C>T (p.Phe1836=) c.5580C>T (p.Phe1860=) | gnomAD v4 |
| 3 | g.38550735G>C | CA352140523 | SCN5A | c.5634C>G (p.Phe1878Leu) c.5637C>G (p.Phe1879Leu) c.5583C>G (p.Phe1861Leu) c.5475C>G (p.Phe1825Leu) c.5538C>G (p.Phe1846Leu) c.5508C>G (p.Phe1836Leu) c.5580C>G (p.Phe1860Leu) | |
| 3 | g.38550735G>T | CA352140525 | SCN5A | c.5634C>A (p.Phe1878Leu) c.5637C>A (p.Phe1879Leu) c.5583C>A (p.Phe1861Leu) c.5475C>A (p.Phe1825Leu) c.5538C>A (p.Phe1846Leu) c.5508C>A (p.Phe1836Leu) c.5580C>A (p.Phe1860Leu) | |
| 3 | g.38550736A>C | CA352140527 | SCN5A | c.5633T>G (p.Phe1878Cys) c.5636T>G (p.Phe1879Cys) c.5582T>G (p.Phe1861Cys) c.5474T>G (p.Phe1825Cys) c.5537T>G (p.Phe1846Cys) c.5507T>G (p.Phe1836Cys) c.5579T>G (p.Phe1860Cys) | |
| 3 | g.38550736A>G | CA352140529 | SCN5A | c.5633T>C (p.Phe1878Ser) c.5636T>C (p.Phe1879Ser) c.5582T>C (p.Phe1861Ser) c.5474T>C (p.Phe1825Ser) c.5537T>C (p.Phe1846Ser) c.5507T>C (p.Phe1836Ser) c.5579T>C (p.Phe1860Ser) | gnomAD v4 |
| 3 | g.38550736A>T | CA352140530 | SCN5A | c.5633T>A (p.Phe1878Tyr) c.5636T>A (p.Phe1879Tyr) c.5582T>A (p.Phe1861Tyr) c.5474T>A (p.Phe1825Tyr) c.5537T>A (p.Phe1846Tyr) c.5507T>A (p.Phe1836Tyr) c.5579T>A (p.Phe1860Tyr) | |
| 3 | g.38550737A>C | CA352140532 | SCN5A | c.5632T>G (p.Phe1878Val) c.5635T>G (p.Phe1879Val) c.5581T>G (p.Phe1861Val) c.5473T>G (p.Phe1825Val) c.5536T>G (p.Phe1846Val) c.5506T>G (p.Phe1836Val) c.5578T>G (p.Phe1860Val) | |
| 3 | g.38550737A>G | CA352140534 | SCN5A | c.5632T>C (p.Phe1878Leu) c.5635T>C (p.Phe1879Leu) c.5581T>C (p.Phe1861Leu) c.5473T>C (p.Phe1825Leu) c.5536T>C (p.Phe1846Leu) c.5506T>C (p.Phe1836Leu) c.5578T>C (p.Phe1860Leu) | |
| 3 | g.38550737A>T | CA352140535 | SCN5A | c.5632T>A (p.Phe1878Ile) c.5635T>A (p.Phe1879Ile) c.5581T>A (p.Phe1861Ile) c.5473T>A (p.Phe1825Ile) c.5536T>A (p.Phe1846Ile) c.5506T>A (p.Phe1836Ile) c.5578T>A (p.Phe1860Ile) | |
| 3 | g.38550738C>A | CA352140538 | SCN5A | c.5631G>T (p.Lys1877Asn) c.5634G>T (p.Lys1878Asn) c.5580G>T (p.Lys1860Asn) c.5472G>T (p.Lys1824Asn) c.5535G>T (p.Lys1845Asn) c.5505G>T (p.Lys1835Asn) c.5577G>T (p.Lys1859Asn) | gnomAD v4 |
| 3 | g.38550738C>G | CA352140539 | SCN5A | c.5631G>C (p.Lys1877Asn) c.5634G>C (p.Lys1878Asn) c.5580G>C (p.Lys1860Asn) c.5472G>C (p.Lys1824Asn) c.5535G>C (p.Lys1845Asn) c.5505G>C (p.Lys1835Asn) c.5577G>C (p.Lys1859Asn) | |
| 3 | g.38550738C>T | CA433331777 | SCN5A | c.5631G>A (p.Lys1877=) c.5634G>A (p.Lys1878=) c.5580G>A (p.Lys1860=) c.5472G>A (p.Lys1824=) c.5535G>A (p.Lys1845=) c.5505G>A (p.Lys1835=) c.5577G>A (p.Lys1859=) | ClinVar gnomAD v4 |
| 3 | g.38550739T>A | CA352140541 | SCN5A | c.5630A>T (p.Lys1877Met) c.5633A>T (p.Lys1878Met) c.5579A>T (p.Lys1860Met) c.5471A>T (p.Lys1824Met) c.5534A>T (p.Lys1845Met) c.5504A>T (p.Lys1835Met) c.5576A>T (p.Lys1859Met) | COSMIC COSMIC COSMIC |
| 3 | g.38550739T>C | CA352140545 | SCN5A | c.5630A>G (p.Lys1877Arg) c.5633A>G (p.Lys1878Arg) c.5579A>G (p.Lys1860Arg) c.5471A>G (p.Lys1824Arg) c.5534A>G (p.Lys1845Arg) c.5504A>G (p.Lys1835Arg) c.5576A>G (p.Lys1859Arg) | |
| 3 | g.38550739T>G | CA352140543 | SCN5A | c.5630A>C (p.Lys1877Thr) c.5633A>C (p.Lys1878Thr) c.5579A>C (p.Lys1860Thr) c.5471A>C (p.Lys1824Thr) c.5534A>C (p.Lys1845Thr) c.5504A>C (p.Lys1835Thr) c.5576A>C (p.Lys1859Thr) | |
| 3 | g.38550740T>A | CA352140547 | SCN5A | c.5629A>T (p.Lys1877Ter) c.5632A>T (p.Lys1878Ter) c.5578A>T (p.Lys1860Ter) c.5470A>T (p.Lys1824Ter) c.5533A>T (p.Lys1845Ter) c.5503A>T (p.Lys1835Ter) c.5575A>T (p.Lys1859Ter) | dbSNP |
| 3 | g.38550740T>C | CA352140549 | SCN5A | c.5629A>G (p.Lys1877Glu) c.5632A>G (p.Lys1878Glu) c.5578A>G (p.Lys1860Glu) c.5470A>G (p.Lys1824Glu) c.5533A>G (p.Lys1845Glu) c.5503A>G (p.Lys1835Glu) c.5575A>G (p.Lys1859Glu) | gnomAD v4 |
| 3 | g.38550740T>G | CA352140550 | SCN5A | c.5629A>C (p.Lys1877Gln) c.5632A>C (p.Lys1878Gln) c.5578A>C (p.Lys1860Gln) c.5470A>C (p.Lys1824Gln) c.5533A>C (p.Lys1845Gln) c.5503A>C (p.Lys1835Gln) c.5575A>C (p.Lys1859Gln) | |
| 3 | g.38550740T= | CA1358556502 | SCN5A | c.5629A= (p.Lys1877=) c.5632A= (p.Lys1878=) c.5578A= (p.Lys1860=) c.5470A= (p.Lys1824=) c.5533A= (p.Lys1845=) c.5503A= (p.Lys1835=) c.5575A= (p.Lys1859=) | |
| 3 | g.38550740_38550743delinsTCTC | CA1358556503 | SCN5A | c.5626_5629delinsGAGA (p.Glu1876=) c.5629_5632delinsGAGA (p.Glu1877=) c.5575_5578delinsGAGA (p.Glu1859=) c.5467_5470delinsGAGA (p.Glu1823=) c.5530_5533delinsGAGA (p.Glu1844=) c.5500_5503delinsGAGA (p.Glu1834=) c.5572_5575delinsGAGA (p.Glu1858=) | |
| 3 | g.38550741C>A | CA352140552 | SCN5A | c.5628G>T (p.Glu1876Asp) c.5631G>T (p.Glu1877Asp) c.5577G>T (p.Glu1859Asp) c.5469G>T (p.Glu1823Asp) c.5532G>T (p.Glu1844Asp) c.5502G>T (p.Glu1834Asp) c.5574G>T (p.Glu1858Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38550741C>G | CA352140554 | SCN5A | c.5628G>C (p.Glu1876Asp) c.5631G>C (p.Glu1877Asp) c.5577G>C (p.Glu1859Asp) c.5469G>C (p.Glu1823Asp) c.5532G>C (p.Glu1844Asp) c.5502G>C (p.Glu1834Asp) c.5574G>C (p.Glu1858Asp) | |
| 3 | g.38550741C>T | CA433331788 | SCN5A | c.5628G>A (p.Glu1876=) c.5631G>A (p.Glu1877=) c.5577G>A (p.Glu1859=) c.5469G>A (p.Glu1823=) c.5532G>A (p.Glu1844=) c.5502G>A (p.Glu1834=) c.5574G>A (p.Glu1858=) | |
| 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.38550742T>A | CA352140556 | SCN5A | c.5627A>T (p.Glu1876Val) c.5630A>T (p.Glu1877Val) c.5576A>T (p.Glu1859Val) c.5468A>T (p.Glu1823Val) c.5531A>T (p.Glu1844Val) c.5501A>T (p.Glu1834Val) c.5573A>T (p.Glu1858Val) | |
| 3 | g.38550742T>C | CA352140558 | SCN5A | c.5627A>G (p.Glu1876Gly) c.5630A>G (p.Glu1877Gly) c.5576A>G (p.Glu1859Gly) c.5468A>G (p.Glu1823Gly) c.5531A>G (p.Glu1844Gly) c.5501A>G (p.Glu1834Gly) c.5573A>G (p.Glu1858Gly) | |
| 3 | g.38550742T>G | CA352140559 | SCN5A | c.5627A>C (p.Glu1876Ala) c.5630A>C (p.Glu1877Ala) c.5576A>C (p.Glu1859Ala) c.5468A>C (p.Glu1823Ala) c.5531A>C (p.Glu1844Ala) c.5501A>C (p.Glu1834Ala) c.5573A>C (p.Glu1858Ala) | |
| 3 | g.38550743C>A | CA352140560 | SCN5A | c.5626G>T (p.Glu1876Ter) c.5629G>T (p.Glu1877Ter) c.5575G>T (p.Glu1859Ter) c.5467G>T (p.Glu1823Ter) c.5530G>T (p.Glu1844Ter) c.5500G>T (p.Glu1834Ter) c.5572G>T (p.Glu1858Ter) | dbSNP |
| 3 | g.38550743C= | CA1358556512 | SCN5A | c.5626G= (p.Glu1876=) c.5629G= (p.Glu1877=) c.5575G= (p.Glu1859=) c.5467G= (p.Glu1823=) c.5530G= (p.Glu1844=) c.5500G= (p.Glu1834=) c.5572G= (p.Glu1858=) | |
| 3 | g.38550743C>G | CA352140561 | SCN5A | c.5626G>C (p.Glu1876Gln) c.5629G>C (p.Glu1877Gln) c.5575G>C (p.Glu1859Gln) c.5467G>C (p.Glu1823Gln) c.5530G>C (p.Glu1844Gln) c.5500G>C (p.Glu1834Gln) c.5572G>C (p.Glu1858Gln) | |
| 3 | g.38550743C>T | CA352140563 | SCN5A | c.5626G>A (p.Glu1876Lys) c.5629G>A (p.Glu1877Lys) c.5575G>A (p.Glu1859Lys) c.5467G>A (p.Glu1823Lys) c.5530G>A (p.Glu1844Lys) c.5500G>A (p.Glu1834Lys) c.5572G>A (p.Glu1858Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550744C>A | CA352140566 | SCN5A | c.5625G>T (p.Glu1875Asp) c.5628G>T (p.Glu1876Asp) c.5574G>T (p.Glu1858Asp) c.5466G>T (p.Glu1822Asp) c.5529G>T (p.Glu1843Asp) c.5499G>T (p.Glu1833Asp) c.5571G>T (p.Glu1857Asp) | |
| 3 | g.38550744C>G | CA352140565 | SCN5A | c.5625G>C (p.Glu1875Asp) c.5628G>C (p.Glu1876Asp) c.5574G>C (p.Glu1858Asp) c.5466G>C (p.Glu1822Asp) c.5529G>C (p.Glu1843Asp) c.5499G>C (p.Glu1833Asp) c.5571G>C (p.Glu1857Asp) | |
| 3 | g.38550744C>T | CA433331798 | SCN5A | c.5625G>A (p.Glu1875=) c.5628G>A (p.Glu1876=) c.5574G>A (p.Glu1858=) c.5466G>A (p.Glu1822=) c.5529G>A (p.Glu1843=) c.5499G>A (p.Glu1833=) c.5571G>A (p.Glu1857=) | |
| 3 | g.38550745T>A | CA352140568 | SCN5A | c.5624A>T (p.Glu1875Val) c.5627A>T (p.Glu1876Val) c.5573A>T (p.Glu1858Val) c.5465A>T (p.Glu1822Val) c.5528A>T (p.Glu1843Val) c.5498A>T (p.Glu1833Val) c.5570A>T (p.Glu1857Val) | ClinVar dbSNP |
| 3 | g.38550745T>C | CA352140572 | SCN5A | c.5624A>G (p.Glu1875Gly) c.5627A>G (p.Glu1876Gly) c.5573A>G (p.Glu1858Gly) c.5465A>G (p.Glu1822Gly) c.5528A>G (p.Glu1843Gly) c.5498A>G (p.Glu1833Gly) c.5570A>G (p.Glu1857Gly) | |
| 3 | g.38550745T>G | CA352140570 | SCN5A | c.5624A>C (p.Glu1875Ala) c.5627A>C (p.Glu1876Ala) c.5573A>C (p.Glu1858Ala) c.5465A>C (p.Glu1822Ala) c.5528A>C (p.Glu1843Ala) c.5498A>C (p.Glu1833Ala) c.5570A>C (p.Glu1857Ala) | |
| 3 | g.38550745T= | CA1358556515 | SCN5A | c.5624A= (p.Glu1875=) c.5627A= (p.Glu1876=) c.5573A= (p.Glu1858=) c.5465A= (p.Glu1822=) c.5528A= (p.Glu1843=) c.5498A= (p.Glu1833=) c.5570A= (p.Glu1857=) | |
| 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 |