OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550816G>A | CA433332064 | SCN5A | c.5553C>T (p.Asp1851=) c.5556C>T (p.Asp1852=) c.5502C>T (p.Asp1834=) c.5394C>T (p.Asp1798=) c.5457C>T (p.Asp1819=) c.5427C>T (p.Asp1809=) c.5499C>T (p.Asp1833=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38550816G>C | CA352140854 | SCN5A | c.5553C>G (p.Asp1851Glu) c.5556C>G (p.Asp1852Glu) c.5502C>G (p.Asp1834Glu) c.5394C>G (p.Asp1798Glu) c.5457C>G (p.Asp1819Glu) c.5427C>G (p.Asp1809Glu) c.5499C>G (p.Asp1833Glu) | |
| 3 | g.38550816G= | CA1358556655 | SCN5A | c.5553C= (p.Asp1851=) c.5556C= (p.Asp1852=) c.5502C= (p.Asp1834=) c.5394C= (p.Asp1798=) c.5457C= (p.Asp1819=) c.5427C= (p.Asp1809=) c.5499C= (p.Asp1833=) | |
| 3 | g.38550816G>T | CA352140855 | SCN5A | c.5553C>A (p.Asp1851Glu) c.5556C>A (p.Asp1852Glu) c.5502C>A (p.Asp1834Glu) c.5394C>A (p.Asp1798Glu) c.5457C>A (p.Asp1819Glu) c.5427C>A (p.Asp1809Glu) c.5499C>A (p.Asp1833Glu) | |
| 3 | g.38550817T>A | CA064529 | SCN5A | c.5552A>T (p.Asp1851Val) c.5555A>T (p.Asp1852Val) c.5501A>T (p.Asp1834Val) c.5393A>T (p.Asp1798Val) c.5456A>T (p.Asp1819Val) c.5426A>T (p.Asp1809Val) c.5498A>T (p.Asp1833Val) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.38550817T>C | CA352140857 | SCN5A | c.5552A>G (p.Asp1851Gly) c.5555A>G (p.Asp1852Gly) c.5501A>G (p.Asp1834Gly) c.5393A>G (p.Asp1798Gly) c.5456A>G (p.Asp1819Gly) c.5426A>G (p.Asp1809Gly) c.5498A>G (p.Asp1833Gly) | |
| 3 | g.38550817T>G | CA352140856 | SCN5A | c.5552A>C (p.Asp1851Ala) c.5555A>C (p.Asp1852Ala) c.5501A>C (p.Asp1834Ala) c.5393A>C (p.Asp1798Ala) c.5456A>C (p.Asp1819Ala) c.5426A>C (p.Asp1809Ala) c.5498A>C (p.Asp1833Ala) | |
| 3 | g.38550817T= | CA1358556659 | SCN5A | c.5552A= (p.Asp1851=) c.5555A= (p.Asp1852=) c.5501A= (p.Asp1834=) c.5393A= (p.Asp1798=) c.5456A= (p.Asp1819=) c.5426A= (p.Asp1809=) c.5498A= (p.Asp1833=) | |
| 3 | g.38550818C>A | CA352140858 | SCN5A | c.5551G>T (p.Asp1851Tyr) c.5554G>T (p.Asp1852Tyr) c.5500G>T (p.Asp1834Tyr) c.5392G>T (p.Asp1798Tyr) c.5455G>T (p.Asp1819Tyr) c.5425G>T (p.Asp1809Tyr) c.5497G>T (p.Asp1833Tyr) | |
| 3 | g.38550818C>G | CA352140859 | SCN5A | c.5551G>C (p.Asp1851His) c.5554G>C (p.Asp1852His) c.5500G>C (p.Asp1834His) c.5392G>C (p.Asp1798His) c.5455G>C (p.Asp1819His) c.5425G>C (p.Asp1809His) c.5497G>C (p.Asp1833His) | |
| 3 | g.38550818C>T | CA352140860 | SCN5A | c.5551G>A (p.Asp1851Asn) c.5554G>A (p.Asp1852Asn) c.5500G>A (p.Asp1834Asn) c.5392G>A (p.Asp1798Asn) c.5455G>A (p.Asp1819Asn) c.5425G>A (p.Asp1809Asn) c.5497G>A (p.Asp1833Asn) | gnomAD v4 |
| 3 | g.38550819C>A | CA352140861 | SCN5A | c.5550G>T (p.Met1850Ile) c.5553G>T (p.Met1851Ile) c.5499G>T (p.Met1833Ile) c.5391G>T (p.Met1797Ile) c.5454G>T (p.Met1818Ile) c.5424G>T (p.Met1808Ile) c.5496G>T (p.Met1832Ile) | |
| 3 | g.38550819C= | CA1358556662 | SCN5A | c.5550G= (p.Met1850=) c.5553G= (p.Met1851=) c.5499G= (p.Met1833=) c.5391G= (p.Met1797=) c.5454G= (p.Met1818=) c.5424G= (p.Met1808=) c.5496G= (p.Met1832=) | |
| 3 | g.38550819C>G | CA352140862 | SCN5A | c.5550G>C (p.Met1850Ile) c.5553G>C (p.Met1851Ile) c.5499G>C (p.Met1833Ile) c.5391G>C (p.Met1797Ile) c.5454G>C (p.Met1818Ile) c.5424G>C (p.Met1808Ile) c.5496G>C (p.Met1832Ile) | |
| 3 | g.38550819C>T | CA352140863 | SCN5A | c.5550G>A (p.Met1850Ile) c.5553G>A (p.Met1851Ile) c.5499G>A (p.Met1833Ile) c.5391G>A (p.Met1797Ile) c.5454G>A (p.Met1818Ile) c.5424G>A (p.Met1808Ile) c.5496G>A (p.Met1832Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550820A= | CA1358556669 | SCN5A | c.5549T= (p.Met1850=) c.5552T= (p.Met1851=) c.5498T= (p.Met1833=) c.5390T= (p.Met1797=) c.5453T= (p.Met1818=) c.5423T= (p.Met1808=) c.5495T= (p.Met1832=) | |
| 3 | g.38550820A>C | CA352140864 | SCN5A | c.5549T>G (p.Met1850Arg) c.5552T>G (p.Met1851Arg) c.5498T>G (p.Met1833Arg) c.5390T>G (p.Met1797Arg) c.5453T>G (p.Met1818Arg) c.5423T>G (p.Met1808Arg) c.5495T>G (p.Met1832Arg) | |
| 3 | g.38550820A>G | CA352140866 | SCN5A | c.5549T>C (p.Met1850Thr) c.5552T>C (p.Met1851Thr) c.5498T>C (p.Met1833Thr) c.5390T>C (p.Met1797Thr) c.5453T>C (p.Met1818Thr) c.5423T>C (p.Met1808Thr) c.5495T>C (p.Met1832Thr) | |
| 3 | g.38550820A>T | CA352140865 | SCN5A | c.5549T>A (p.Met1850Lys) c.5552T>A (p.Met1851Lys) c.5498T>A (p.Met1833Lys) c.5390T>A (p.Met1797Lys) c.5453T>A (p.Met1818Lys) c.5423T>A (p.Met1808Lys) c.5495T>A (p.Met1832Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550824_38550832del | CA2573052150 | SCN5A | c.5541_5549del (p.Ile1847_Cys1849del) c.5544_5552del (p.Ile1848_Cys1850del) c.5490_5498del (p.Ile1830_Cys1832del) c.5382_5390del (p.Ile1794_Cys1796del) c.5445_5453del (p.Ile1815_Cys1817del) c.5415_5423del (p.Ile1805_Cys1807del) c.5487_5495del (p.Ile1829_Cys1831del) | ClinVar dbSNP |
| 3 | g.38550821T>A | CA352140867 | SCN5A | c.5548A>T (p.Met1850Leu) c.5551A>T (p.Met1851Leu) c.5497A>T (p.Met1833Leu) c.5389A>T (p.Met1797Leu) c.5452A>T (p.Met1818Leu) c.5422A>T (p.Met1808Leu) c.5494A>T (p.Met1832Leu) | |
| 3 | g.38550821T>C | CA352140868 | SCN5A | c.5548A>G (p.Met1850Val) c.5551A>G (p.Met1851Val) c.5497A>G (p.Met1833Val) c.5389A>G (p.Met1797Val) c.5452A>G (p.Met1818Val) c.5422A>G (p.Met1808Val) c.5494A>G (p.Met1832Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550821T>G | CA352140869 | SCN5A | c.5548A>C (p.Met1850Leu) c.5551A>C (p.Met1851Leu) c.5497A>C (p.Met1833Leu) c.5389A>C (p.Met1797Leu) c.5452A>C (p.Met1818Leu) c.5422A>C (p.Met1808Leu) c.5494A>C (p.Met1832Leu) | |
| 3 | g.38550821T= | CA1358556671 | SCN5A | c.5548A= (p.Met1850=) c.5551A= (p.Met1851=) c.5497A= (p.Met1833=) c.5389A= (p.Met1797=) c.5452A= (p.Met1818=) c.5422A= (p.Met1808=) c.5494A= (p.Met1832=) | |
| 3 | g.38550822G>A | CA433332072 | SCN5A | c.5547C>T (p.Cys1849=) c.5550C>T (p.Cys1850=) c.5496C>T (p.Cys1832=) c.5388C>T (p.Cys1796=) c.5451C>T (p.Cys1817=) c.5421C>T (p.Cys1807=) c.5493C>T (p.Cys1831=) | dbSNP |
| 3 | g.38550822G>C | CA352140870 | SCN5A | c.5547C>G (p.Cys1849Trp) c.5550C>G (p.Cys1850Trp) c.5496C>G (p.Cys1832Trp) c.5388C>G (p.Cys1796Trp) c.5451C>G (p.Cys1817Trp) c.5421C>G (p.Cys1807Trp) c.5493C>G (p.Cys1831Trp) | |
| 3 | g.38550822G= | CA1358556672 | SCN5A | c.5547C= (p.Cys1849=) c.5550C= (p.Cys1850=) c.5496C= (p.Cys1832=) c.5388C= (p.Cys1796=) c.5451C= (p.Cys1817=) c.5421C= (p.Cys1807=) c.5493C= (p.Cys1831=) | |
| 3 | g.38550822G>T | CA352140871 | SCN5A | c.5547C>A (p.Cys1849Ter) c.5550C>A (p.Cys1850Ter) c.5496C>A (p.Cys1832Ter) c.5388C>A (p.Cys1796Ter) c.5451C>A (p.Cys1817Ter) c.5421C>A (p.Cys1807Ter) c.5493C>A (p.Cys1831Ter) | dbSNP |
| 3 | g.38550823C>A | CA352140873 | SCN5A | c.5546G>T (p.Cys1849Phe) c.5549G>T (p.Cys1850Phe) c.5495G>T (p.Cys1832Phe) c.5387G>T (p.Cys1796Phe) c.5450G>T (p.Cys1817Phe) c.5420G>T (p.Cys1807Phe) c.5492G>T (p.Cys1831Phe) | |
| 3 | g.38550823C= | CA1358556673 | SCN5A | c.5546G= (p.Cys1849=) c.5549G= (p.Cys1850=) c.5495G= (p.Cys1832=) c.5387G= (p.Cys1796=) c.5450G= (p.Cys1817=) c.5420G= (p.Cys1807=) c.5492G= (p.Cys1831=) | |
| 3 | g.38550823C>G | CA019342 | SCN5A | c.5546G>C (p.Cys1849Ser) c.5549G>C (p.Cys1850Ser) c.5495G>C (p.Cys1832Ser) c.5387G>C (p.Cys1796Ser) c.5450G>C (p.Cys1817Ser) c.5420G>C (p.Cys1807Ser) c.5492G>C (p.Cys1831Ser) | ClinVar dbSNP |
| 3 | g.38550823C>T | CA352140872 | SCN5A | c.5546G>A (p.Cys1849Tyr) c.5549G>A (p.Cys1850Tyr) c.5495G>A (p.Cys1832Tyr) c.5387G>A (p.Cys1796Tyr) c.5450G>A (p.Cys1817Tyr) c.5420G>A (p.Cys1807Tyr) c.5492G>A (p.Cys1831Tyr) | gnomAD v4 |
| 3 | g.38550824A>C | CA352140874 | SCN5A | c.5545T>G (p.Cys1849Gly) c.5548T>G (p.Cys1850Gly) c.5494T>G (p.Cys1832Gly) c.5386T>G (p.Cys1796Gly) c.5449T>G (p.Cys1817Gly) c.5419T>G (p.Cys1807Gly) c.5491T>G (p.Cys1831Gly) | |
| 3 | g.38550824A>G | CA352140876 | SCN5A | c.5545T>C (p.Cys1849Arg) c.5548T>C (p.Cys1850Arg) c.5494T>C (p.Cys1832Arg) c.5386T>C (p.Cys1796Arg) c.5449T>C (p.Cys1817Arg) c.5419T>C (p.Cys1807Arg) c.5491T>C (p.Cys1831Arg) | gnomAD v4 |
| 3 | g.38550824A>T | CA352140875 | SCN5A | c.5545T>A (p.Cys1849Ser) c.5548T>A (p.Cys1850Ser) c.5494T>A (p.Cys1832Ser) c.5386T>A (p.Cys1796Ser) c.5449T>A (p.Cys1817Ser) c.5419T>A (p.Cys1807Ser) c.5491T>A (p.Cys1831Ser) | |
| 3 | g.38550825A>C | CA352140877 | SCN5A | c.5544T>G (p.His1848Gln) c.5547T>G (p.His1849Gln) c.5493T>G (p.His1831Gln) c.5385T>G (p.His1795Gln) c.5448T>G (p.His1816Gln) c.5418T>G (p.His1806Gln) c.5490T>G (p.His1830Gln) | |
| 3 | g.38550825A>G | CA433332079 | SCN5A | c.5544T>C (p.His1848=) c.5547T>C (p.His1849=) c.5493T>C (p.His1831=) c.5385T>C (p.His1795=) c.5448T>C (p.His1816=) c.5418T>C (p.His1806=) c.5490T>C (p.His1830=) | |
| 3 | g.38550825A>T | CA352140878 | SCN5A | c.5544T>A (p.His1848Gln) c.5547T>A (p.His1849Gln) c.5493T>A (p.His1831Gln) c.5385T>A (p.His1795Gln) c.5448T>A (p.His1816Gln) c.5418T>A (p.His1806Gln) c.5490T>A (p.His1830Gln) | |
| 3 | g.38550826T>A | CA352140879 | SCN5A | c.5543A>T (p.His1848Leu) c.5546A>T (p.His1849Leu) c.5492A>T (p.His1831Leu) c.5384A>T (p.His1795Leu) c.5447A>T (p.His1816Leu) c.5417A>T (p.His1806Leu) c.5489A>T (p.His1830Leu) | |
| 3 | g.38550826T>C | CA019336 | SCN5A | c.5543A>G (p.His1848Arg) c.5546A>G (p.His1849Arg) c.5492A>G (p.His1831Arg) c.5384A>G (p.His1795Arg) c.5447A>G (p.His1816Arg) c.5417A>G (p.His1806Arg) c.5489A>G (p.His1830Arg) | ClinVar dbSNP |
| 3 | g.38550826T>G | CA352140880 | SCN5A | c.5543A>C (p.His1848Pro) c.5546A>C (p.His1849Pro) c.5492A>C (p.His1831Pro) c.5384A>C (p.His1795Pro) c.5447A>C (p.His1816Pro) c.5417A>C (p.His1806Pro) c.5489A>C (p.His1830Pro) | |
| 3 | g.38550826T= | CA1358556675 | SCN5A | c.5543A= (p.His1848=) c.5546A= (p.His1849=) c.5492A= (p.His1831=) c.5384A= (p.His1795=) c.5447A= (p.His1816=) c.5417A= (p.His1806=) c.5489A= (p.His1830=) | |
| 3 | g.38550827G>A | CA352140881 | SCN5A | c.5542C>T (p.His1848Tyr) c.5545C>T (p.His1849Tyr) c.5491C>T (p.His1831Tyr) c.5383C>T (p.His1795Tyr) c.5446C>T (p.His1816Tyr) c.5416C>T (p.His1806Tyr) c.5488C>T (p.His1830Tyr) | |
| 3 | g.38550827G>C | CA352140882 | SCN5A | c.5542C>G (p.His1848Asp) c.5545C>G (p.His1849Asp) c.5491C>G (p.His1831Asp) c.5383C>G (p.His1795Asp) c.5446C>G (p.His1816Asp) c.5416C>G (p.His1806Asp) c.5488C>G (p.His1830Asp) | |
| 3 | g.38550827G>T | CA352140883 | SCN5A | c.5542C>A (p.His1848Asn) c.5545C>A (p.His1849Asn) c.5491C>A (p.His1831Asn) c.5383C>A (p.His1795Asn) c.5446C>A (p.His1816Asn) c.5416C>A (p.His1806Asn) c.5488C>A (p.His1830Asn) | |
| 3 | g.38550828G>A | CA433332082 | SCN5A | c.5541C>T (p.Ile1847=) c.5544C>T (p.Ile1848=) c.5490C>T (p.Ile1830=) c.5382C>T (p.Ile1794=) c.5445C>T (p.Ile1815=) c.5415C>T (p.Ile1805=) c.5487C>T (p.Ile1829=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550828G>C | CA352140884 | SCN5A | c.5541C>G (p.Ile1847Met) c.5544C>G (p.Ile1848Met) c.5490C>G (p.Ile1830Met) c.5382C>G (p.Ile1794Met) c.5445C>G (p.Ile1815Met) c.5415C>G (p.Ile1805Met) c.5487C>G (p.Ile1829Met) | ClinVar |
| 3 | g.38550828G= | CA1358556682 | SCN5A | c.5541C= (p.Ile1847=) c.5544C= (p.Ile1848=) c.5490C= (p.Ile1830=) c.5382C= (p.Ile1794=) c.5445C= (p.Ile1815=) c.5415C= (p.Ile1805=) c.5487C= (p.Ile1829=) | |
| 3 | g.38550828G>T | CA433332084 | SCN5A | c.5541C>A (p.Ile1847=) c.5544C>A (p.Ile1848=) c.5490C>A (p.Ile1830=) c.5382C>A (p.Ile1794=) c.5445C>A (p.Ile1815=) c.5415C>A (p.Ile1805=) c.5487C>A (p.Ile1829=) | |
| 3 | g.38550828_38550843delinsGATGCGGTCCCCACTC | CA1358556679 | SCN5A | c.5526_5541delinsGAGTGGGGACCGCATC (p.Val1842=) c.5529_5544delinsGAGTGGGGACCGCATC (p.Val1843=) c.5475_5490delinsGAGTGGGGACCGCATC (p.Val1825=) c.5367_5382delinsGAGTGGGGACCGCATC (p.Val1789=) c.5430_5445delinsGAGTGGGGACCGCATC (p.Val1810=) c.5400_5415delinsGAGTGGGGACCGCATC (p.Val1800=) c.5472_5487delinsGAGTGGGGACCGCATC (p.Val1824=) | |
| 3 | g.38550829A>C | CA352140887 | SCN5A | c.5540T>G (p.Ile1847Ser) c.5543T>G (p.Ile1848Ser) c.5489T>G (p.Ile1830Ser) c.5381T>G (p.Ile1794Ser) c.5444T>G (p.Ile1815Ser) c.5414T>G (p.Ile1805Ser) c.5486T>G (p.Ile1829Ser) | ClinVar |
| 3 | g.38550829A>G | CA352140886 | SCN5A | c.5540T>C (p.Ile1847Thr) c.5543T>C (p.Ile1848Thr) c.5489T>C (p.Ile1830Thr) c.5381T>C (p.Ile1794Thr) c.5444T>C (p.Ile1815Thr) c.5414T>C (p.Ile1805Thr) c.5486T>C (p.Ile1829Thr) | |
| 3 | g.38550829A>T | CA352140885 | SCN5A | c.5540T>A (p.Ile1847Asn) c.5543T>A (p.Ile1848Asn) c.5489T>A (p.Ile1830Asn) c.5381T>A (p.Ile1794Asn) c.5444T>A (p.Ile1815Asn) c.5414T>A (p.Ile1805Asn) c.5486T>A (p.Ile1829Asn) | |
| 3 | g.38550830_38550844del | CA019314 | SCN5A | c.5526_5540del (p.Ser1843_Ile1847del) c.5529_5543del (p.Ser1844_Ile1848del) c.5475_5489del (p.Ser1826_Ile1830del) c.5367_5381del (p.Ser1790_Ile1794del) c.5430_5444del (p.Ser1811_Ile1815del) c.5400_5414del (p.Ser1801_Ile1805del) c.5472_5486del (p.Ser1825_Ile1829del) | ClinVar dbSNP |
| 3 | g.38550830T>A | CA352140888 | SCN5A | c.5539A>T (p.Ile1847Phe) c.5542A>T (p.Ile1848Phe) c.5488A>T (p.Ile1830Phe) c.5380A>T (p.Ile1794Phe) c.5443A>T (p.Ile1815Phe) c.5413A>T (p.Ile1805Phe) c.5485A>T (p.Ile1829Phe) | |
| 3 | g.38550830T>C | CA352140889 | SCN5A | c.5539A>G (p.Ile1847Val) c.5542A>G (p.Ile1848Val) c.5488A>G (p.Ile1830Val) c.5380A>G (p.Ile1794Val) c.5443A>G (p.Ile1815Val) c.5413A>G (p.Ile1805Val) c.5485A>G (p.Ile1829Val) | |
| 3 | g.38550830T>G | CA352140890 | SCN5A | c.5539A>C (p.Ile1847Leu) c.5542A>C (p.Ile1848Leu) c.5488A>C (p.Ile1830Leu) c.5380A>C (p.Ile1794Leu) c.5443A>C (p.Ile1815Leu) c.5413A>C (p.Ile1805Leu) c.5485A>C (p.Ile1829Leu) | |
| 3 | g.38550831G>A | CA433332088 | SCN5A | c.5538C>T (p.Arg1846=) c.5541C>T (p.Arg1847=) c.5487C>T (p.Arg1829=) c.5379C>T (p.Arg1793=) c.5442C>T (p.Arg1814=) c.5412C>T (p.Arg1804=) c.5484C>T (p.Arg1828=) | ClinVar |
| 3 | g.38550831G>C | CA433332089 | SCN5A | c.5538C>G (p.Arg1846=) c.5541C>G (p.Arg1847=) c.5487C>G (p.Arg1829=) c.5379C>G (p.Arg1793=) c.5442C>G (p.Arg1814=) c.5412C>G (p.Arg1804=) c.5484C>G (p.Arg1828=) | |
| 3 | g.38550831G>T | CA433332090 | SCN5A | c.5538C>A (p.Arg1846=) c.5541C>A (p.Arg1847=) c.5487C>A (p.Arg1829=) c.5379C>A (p.Arg1793=) c.5442C>A (p.Arg1814=) c.5412C>A (p.Arg1804=) c.5484C>A (p.Arg1828=) | |
| 3 | g.38550832C>A | CA352140891 | SCN5A | c.5537G>T (p.Arg1846Leu) c.5540G>T (p.Arg1847Leu) c.5486G>T (p.Arg1829Leu) c.5378G>T (p.Arg1793Leu) c.5441G>T (p.Arg1814Leu) c.5411G>T (p.Arg1804Leu) c.5483G>T (p.Arg1828Leu) | ClinVar dbSNP |
| 3 | g.38550832C= | CA1358556694 | SCN5A | c.5537G= (p.Arg1846=) c.5540G= (p.Arg1847=) c.5486G= (p.Arg1829=) c.5378G= (p.Arg1793=) c.5441G= (p.Arg1814=) c.5411G= (p.Arg1804=) c.5483G= (p.Arg1828=) | |
| 3 | g.38550832C>G | CA352140892 | SCN5A | c.5537G>C (p.Arg1846Pro) c.5540G>C (p.Arg1847Pro) c.5486G>C (p.Arg1829Pro) c.5378G>C (p.Arg1793Pro) c.5441G>C (p.Arg1814Pro) c.5411G>C (p.Arg1804Pro) c.5483G>C (p.Arg1828Pro) | |
| 3 | g.38550832C>T | CA019325 | SCN5A | c.5537G>A (p.Arg1846His) c.5540G>A (p.Arg1847His) c.5486G>A (p.Arg1829His) c.5378G>A (p.Arg1793His) c.5441G>A (p.Arg1814His) c.5411G>A (p.Arg1804His) c.5483G>A (p.Arg1828His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550833G>A | CA064515 | SCN5A | c.5536C>T (p.Arg1846Cys) c.5539C>T (p.Arg1847Cys) c.5485C>T (p.Arg1829Cys) c.5377C>T (p.Arg1793Cys) c.5440C>T (p.Arg1814Cys) c.5410C>T (p.Arg1804Cys) c.5482C>T (p.Arg1828Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550833G>C | CA352140893 | SCN5A | c.5536C>G (p.Arg1846Gly) c.5539C>G (p.Arg1847Gly) c.5485C>G (p.Arg1829Gly) c.5377C>G (p.Arg1793Gly) c.5440C>G (p.Arg1814Gly) c.5410C>G (p.Arg1804Gly) c.5482C>G (p.Arg1828Gly) | ClinVar dbSNP |
| 3 | g.38550833G= | CA1358556698 | SCN5A | c.5536C= (p.Arg1846=) c.5539C= (p.Arg1847=) c.5485C= (p.Arg1829=) c.5377C= (p.Arg1793=) c.5440C= (p.Arg1814=) c.5410C= (p.Arg1804=) c.5482C= (p.Arg1828=) | |
| 3 | g.38550833G>T | CA352140894 | SCN5A | c.5536C>A (p.Arg1846Ser) c.5539C>A (p.Arg1847Ser) c.5485C>A (p.Arg1829Ser) c.5377C>A (p.Arg1793Ser) c.5440C>A (p.Arg1814Ser) c.5410C>A (p.Arg1804Ser) c.5482C>A (p.Arg1828Ser) | |
| 3 | g.38550834G>A | CA433332094 | SCN5A | c.5535C>T (p.Asp1845=) c.5538C>T (p.Asp1846=) c.5484C>T (p.Asp1828=) c.5376C>T (p.Asp1792=) c.5439C>T (p.Asp1813=) c.5409C>T (p.Asp1803=) c.5481C>T (p.Asp1827=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550834G>C | CA352140895 | SCN5A | c.5535C>G (p.Asp1845Glu) c.5538C>G (p.Asp1846Glu) c.5484C>G (p.Asp1828Glu) c.5376C>G (p.Asp1792Glu) c.5439C>G (p.Asp1813Glu) c.5409C>G (p.Asp1803Glu) c.5481C>G (p.Asp1827Glu) | |
| 3 | g.38550834G= | CA1358556705 | SCN5A | c.5535C= (p.Asp1845=) c.5538C= (p.Asp1846=) c.5484C= (p.Asp1828=) c.5376C= (p.Asp1792=) c.5439C= (p.Asp1813=) c.5409C= (p.Asp1803=) c.5481C= (p.Asp1827=) | |
| 3 | g.38550834G>T | CA352140896 | SCN5A | c.5535C>A (p.Asp1845Glu) c.5538C>A (p.Asp1846Glu) c.5484C>A (p.Asp1828Glu) c.5376C>A (p.Asp1792Glu) c.5439C>A (p.Asp1813Glu) c.5409C>A (p.Asp1803Glu) c.5481C>A (p.Asp1827Glu) | ClinVar |
| 3 | g.38550835T>A | CA352140898 | SCN5A | c.5534A>T (p.Asp1845Val) c.5537A>T (p.Asp1846Val) c.5483A>T (p.Asp1828Val) c.5375A>T (p.Asp1792Val) c.5438A>T (p.Asp1813Val) c.5408A>T (p.Asp1803Val) c.5480A>T (p.Asp1827Val) | |
| 3 | g.38550835T>C | CA352140899 | SCN5A | c.5534A>G (p.Asp1845Gly) c.5537A>G (p.Asp1846Gly) c.5483A>G (p.Asp1828Gly) c.5375A>G (p.Asp1792Gly) c.5438A>G (p.Asp1813Gly) c.5408A>G (p.Asp1803Gly) c.5480A>G (p.Asp1827Gly) | |
| 3 | g.38550835T>G | CA352140897 | SCN5A | c.5534A>C (p.Asp1845Ala) c.5537A>C (p.Asp1846Ala) c.5483A>C (p.Asp1828Ala) c.5375A>C (p.Asp1792Ala) c.5438A>C (p.Asp1813Ala) c.5408A>C (p.Asp1803Ala) c.5480A>C (p.Asp1827Ala) | |
| 3 | g.38550836C>A | CA352140900 | SCN5A | c.5533G>T (p.Asp1845Tyr) c.5536G>T (p.Asp1846Tyr) c.5482G>T (p.Asp1828Tyr) c.5374G>T (p.Asp1792Tyr) c.5437G>T (p.Asp1813Tyr) c.5407G>T (p.Asp1803Tyr) c.5479G>T (p.Asp1827Tyr) | |
| 3 | g.38550836C>G | CA352140901 | SCN5A | c.5533G>C (p.Asp1845His) c.5536G>C (p.Asp1846His) c.5482G>C (p.Asp1828His) c.5374G>C (p.Asp1792His) c.5437G>C (p.Asp1813His) c.5407G>C (p.Asp1803His) c.5479G>C (p.Asp1827His) | |
| 3 | g.38550836C>T | CA352140902 | SCN5A | c.5533G>A (p.Asp1845Asn) c.5536G>A (p.Asp1846Asn) c.5482G>A (p.Asp1828Asn) c.5374G>A (p.Asp1792Asn) c.5437G>A (p.Asp1813Asn) c.5407G>A (p.Asp1803Asn) c.5479G>A (p.Asp1827Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38550837C>A | CA433332098 | SCN5A | c.5532G>T (p.Gly1844=) c.5535G>T (p.Gly1845=) c.5481G>T (p.Gly1827=) c.5373G>T (p.Gly1791=) c.5436G>T (p.Gly1812=) c.5406G>T (p.Gly1802=) c.5478G>T (p.Gly1826=) | gnomAD v4 |
| 3 | g.38550837C>G | CA433332099 | SCN5A | c.5532G>C (p.Gly1844=) c.5535G>C (p.Gly1845=) c.5481G>C (p.Gly1827=) c.5373G>C (p.Gly1791=) c.5436G>C (p.Gly1812=) c.5406G>C (p.Gly1802=) c.5478G>C (p.Gly1826=) | |
| 3 | g.38550837C>T | CA433332100 | SCN5A | c.5532G>A (p.Gly1844=) c.5535G>A (p.Gly1845=) c.5481G>A (p.Gly1827=) c.5373G>A (p.Gly1791=) c.5436G>A (p.Gly1812=) c.5406G>A (p.Gly1802=) c.5478G>A (p.Gly1826=) | gnomAD v4 |
| 3 | g.38550838C>A | CA352140903 | SCN5A | c.5531G>T (p.Gly1844Val) c.5534G>T (p.Gly1845Val) c.5480G>T (p.Gly1827Val) c.5372G>T (p.Gly1791Val) c.5435G>T (p.Gly1812Val) c.5405G>T (p.Gly1802Val) c.5477G>T (p.Gly1826Val) | COSMIC COSMIC COSMIC |
| 3 | g.38550838C= | CA1358556707 | SCN5A | c.5531G= (p.Gly1844=) c.5534G= (p.Gly1845=) c.5480G= (p.Gly1827=) c.5372G= (p.Gly1791=) c.5435G= (p.Gly1812=) c.5405G= (p.Gly1802=) c.5477G= (p.Gly1826=) | |
| 3 | g.38550838C>G | CA352140904 | SCN5A | c.5531G>C (p.Gly1844Ala) c.5534G>C (p.Gly1845Ala) c.5480G>C (p.Gly1827Ala) c.5372G>C (p.Gly1791Ala) c.5435G>C (p.Gly1812Ala) c.5405G>C (p.Gly1802Ala) c.5477G>C (p.Gly1826Ala) | |
| 3 | g.38550838C>T | CA352140905 | SCN5A | c.5531G>A (p.Gly1844Glu) c.5534G>A (p.Gly1845Glu) c.5480G>A (p.Gly1827Glu) c.5372G>A (p.Gly1791Glu) c.5435G>A (p.Gly1812Glu) c.5405G>A (p.Gly1802Glu) c.5477G>A (p.Gly1826Glu) | ClinVar |
| 3 | g.38550839C>A | CA352140908 | SCN5A | c.5530G>T (p.Gly1844Trp) c.5533G>T (p.Gly1845Trp) c.5479G>T (p.Gly1827Trp) c.5371G>T (p.Gly1791Trp) c.5434G>T (p.Gly1812Trp) c.5404G>T (p.Gly1802Trp) c.5476G>T (p.Gly1826Trp) | |
| 3 | g.38550839C= | CA1358556713 | SCN5A | c.5530G= (p.Gly1844=) c.5533G= (p.Gly1845=) c.5479G= (p.Gly1827=) c.5371G= (p.Gly1791=) c.5434G= (p.Gly1812=) c.5404G= (p.Gly1802=) c.5476G= (p.Gly1826=) | |
| 3 | g.38550839C>G | CA352140906 | SCN5A | c.5530G>C (p.Gly1844Arg) c.5533G>C (p.Gly1845Arg) c.5479G>C (p.Gly1827Arg) c.5371G>C (p.Gly1791Arg) c.5434G>C (p.Gly1812Arg) c.5404G>C (p.Gly1802Arg) c.5476G>C (p.Gly1826Arg) | |
| 3 | g.38550839C>T | CA352140907 | SCN5A | c.5530G>A (p.Gly1844Arg) c.5533G>A (p.Gly1845Arg) c.5479G>A (p.Gly1827Arg) c.5371G>A (p.Gly1791Arg) c.5434G>A (p.Gly1812Arg) c.5404G>A (p.Gly1802Arg) c.5476G>A (p.Gly1826Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550842_38550845dup | CA16617941 | SCN5A | c.5527_5530dup (p.Gly1844GlufsTer?) c.5530_5533dup (p.Gly1845GlufsTer?) c.5476_5479dup (p.Gly1827GlufsTer?) c.5368_5371dup (p.Gly1791GlufsTer?) c.5431_5434dup (p.Gly1812GlufsTer?) c.5401_5404dup (p.Gly1802GlufsTer?) c.5473_5476dup (p.Gly1826GlufsTer?) | ClinVar dbSNP |
| 3 | g.38550840A= | CA1358556719 | SCN5A | c.5529T= (p.Ser1843=) c.5532T= (p.Ser1844=) c.5478T= (p.Ser1826=) c.5370T= (p.Ser1790=) c.5433T= (p.Ser1811=) c.5403T= (p.Ser1801=) c.5475T= (p.Ser1825=) | |
| 3 | g.38550840A>C | CA352140909 | SCN5A | c.5529T>G (p.Ser1843Arg) c.5532T>G (p.Ser1844Arg) c.5478T>G (p.Ser1826Arg) c.5370T>G (p.Ser1790Arg) c.5433T>G (p.Ser1811Arg) c.5403T>G (p.Ser1801Arg) c.5475T>G (p.Ser1825Arg) | ClinVar |
| 3 | g.38550840A>G | CA433332101 | SCN5A | c.5529T>C (p.Ser1843=) c.5532T>C (p.Ser1844=) c.5478T>C (p.Ser1826=) c.5370T>C (p.Ser1790=) c.5433T>C (p.Ser1811=) c.5403T>C (p.Ser1801=) c.5475T>C (p.Ser1825=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550840A>T | CA352140910 | SCN5A | c.5529T>A (p.Ser1843Arg) c.5532T>A (p.Ser1844Arg) c.5478T>A (p.Ser1826Arg) c.5370T>A (p.Ser1790Arg) c.5433T>A (p.Ser1811Arg) c.5403T>A (p.Ser1801Arg) c.5475T>A (p.Ser1825Arg) | |
| 3 | g.38550841C>A | CA352140911 | SCN5A | c.5528G>T (p.Ser1843Ile) c.5531G>T (p.Ser1844Ile) c.5477G>T (p.Ser1826Ile) c.5369G>T (p.Ser1790Ile) c.5432G>T (p.Ser1811Ile) c.5402G>T (p.Ser1801Ile) c.5474G>T (p.Ser1825Ile) | |
| 3 | g.38550841C>G | CA352140912 | SCN5A | c.5528G>C (p.Ser1843Thr) c.5531G>C (p.Ser1844Thr) c.5477G>C (p.Ser1826Thr) c.5369G>C (p.Ser1790Thr) c.5432G>C (p.Ser1811Thr) c.5402G>C (p.Ser1801Thr) c.5474G>C (p.Ser1825Thr) | |
| 3 | g.38550841C>T | CA352140913 | SCN5A | c.5528G>A (p.Ser1843Asn) c.5531G>A (p.Ser1844Asn) c.5477G>A (p.Ser1826Asn) c.5369G>A (p.Ser1790Asn) c.5432G>A (p.Ser1811Asn) c.5402G>A (p.Ser1801Asn) c.5474G>A (p.Ser1825Asn) | |
| 3 | g.38550842T>A | CA352140914 | SCN5A | c.5527A>T (p.Ser1843Cys) c.5530A>T (p.Ser1844Cys) c.5476A>T (p.Ser1826Cys) c.5368A>T (p.Ser1790Cys) c.5431A>T (p.Ser1811Cys) c.5401A>T (p.Ser1801Cys) c.5473A>T (p.Ser1825Cys) | |
| 3 | g.38550842T>C | CA352140916 | SCN5A | c.5527A>G (p.Ser1843Gly) c.5530A>G (p.Ser1844Gly) c.5476A>G (p.Ser1826Gly) c.5368A>G (p.Ser1790Gly) c.5431A>G (p.Ser1811Gly) c.5401A>G (p.Ser1801Gly) c.5473A>G (p.Ser1825Gly) | |
| 3 | g.38550842T>G | CA352140915 | SCN5A | c.5527A>C (p.Ser1843Arg) c.5530A>C (p.Ser1844Arg) c.5476A>C (p.Ser1826Arg) c.5368A>C (p.Ser1790Arg) c.5431A>C (p.Ser1811Arg) c.5401A>C (p.Ser1801Arg) c.5473A>C (p.Ser1825Arg) | |
| 3 | g.38550843C>A | CA433332105 | SCN5A | c.5526G>T (p.Val1842=) c.5529G>T (p.Val1843=) c.5475G>T (p.Val1825=) c.5367G>T (p.Val1789=) c.5430G>T (p.Val1810=) c.5400G>T (p.Val1800=) c.5472G>T (p.Val1824=) | |
| 3 | g.38550843C>G | CA433332106 | SCN5A | c.5526G>C (p.Val1842=) c.5529G>C (p.Val1843=) c.5475G>C (p.Val1825=) c.5367G>C (p.Val1789=) c.5430G>C (p.Val1810=) c.5400G>C (p.Val1800=) c.5472G>C (p.Val1824=) | |
| 3 | g.38550843C>T | CA433332107 | SCN5A | c.5526G>A (p.Val1842=) c.5529G>A (p.Val1843=) c.5475G>A (p.Val1825=) c.5367G>A (p.Val1789=) c.5430G>A (p.Val1810=) c.5400G>A (p.Val1800=) c.5472G>A (p.Val1824=) | |
| 3 | g.38550844A>C | CA352140917 | SCN5A | c.5525T>G (p.Val1842Gly) c.5528T>G (p.Val1843Gly) c.5474T>G (p.Val1825Gly) c.5366T>G (p.Val1789Gly) c.5429T>G (p.Val1810Gly) c.5399T>G (p.Val1800Gly) c.5471T>G (p.Val1824Gly) | |
| 3 | g.38550844A>G | CA352140918 | SCN5A | c.5525T>C (p.Val1842Ala) c.5528T>C (p.Val1843Ala) c.5474T>C (p.Val1825Ala) c.5366T>C (p.Val1789Ala) c.5429T>C (p.Val1810Ala) c.5399T>C (p.Val1800Ala) c.5471T>C (p.Val1824Ala) | |
| 3 | g.38550844A>T | CA352140919 | SCN5A | c.5525T>A (p.Val1842Glu) c.5528T>A (p.Val1843Glu) c.5474T>A (p.Val1825Glu) c.5366T>A (p.Val1789Glu) c.5429T>A (p.Val1810Glu) c.5399T>A (p.Val1800Glu) c.5471T>A (p.Val1824Glu) | |
| 3 | g.38550845C>A | CA352140920 | SCN5A | c.5524G>T (p.Val1842Leu) c.5527G>T (p.Val1843Leu) c.5473G>T (p.Val1825Leu) c.5365G>T (p.Val1789Leu) c.5428G>T (p.Val1810Leu) c.5398G>T (p.Val1800Leu) c.5470G>T (p.Val1824Leu) | ClinVar gnomAD v4 |
| 3 | g.38550845C= | CA1358556726 | SCN5A | c.5524G= (p.Val1842=) c.5527G= (p.Val1843=) c.5473G= (p.Val1825=) c.5365G= (p.Val1789=) c.5428G= (p.Val1810=) c.5398G= (p.Val1800=) c.5470G= (p.Val1824=) | |
| 3 | g.38550845C>G | CA352140921 | SCN5A | c.5524G>C (p.Val1842Leu) c.5527G>C (p.Val1843Leu) c.5473G>C (p.Val1825Leu) c.5365G>C (p.Val1789Leu) c.5428G>C (p.Val1810Leu) c.5398G>C (p.Val1800Leu) c.5470G>C (p.Val1824Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550845C>T | CA352140922 | SCN5A | c.5524G>A (p.Val1842Met) c.5527G>A (p.Val1843Met) c.5473G>A (p.Val1825Met) c.5365G>A (p.Val1789Met) c.5428G>A (p.Val1810Met) c.5398G>A (p.Val1800Met) c.5470G>A (p.Val1824Met) | |
| 3 | g.38550846C>A | CA352140923 | SCN5A | c.5523G>T (p.Met1841Ile) c.5526G>T (p.Met1842Ile) c.5472G>T (p.Met1824Ile) c.5364G>T (p.Met1788Ile) c.5427G>T (p.Met1809Ile) c.5397G>T (p.Met1799Ile) c.5469G>T (p.Met1823Ile) | ClinVar gnomAD v4 |
| 3 | g.38550846C>G | CA352140924 | SCN5A | c.5523G>C (p.Met1841Ile) c.5526G>C (p.Met1842Ile) c.5472G>C (p.Met1824Ile) c.5364G>C (p.Met1788Ile) c.5427G>C (p.Met1809Ile) c.5397G>C (p.Met1799Ile) c.5469G>C (p.Met1823Ile) | |
| 3 | g.38550846C>T | CA352140925 | SCN5A | c.5523G>A (p.Met1841Ile) c.5526G>A (p.Met1842Ile) c.5472G>A (p.Met1824Ile) c.5364G>A (p.Met1788Ile) c.5427G>A (p.Met1809Ile) c.5397G>A (p.Met1799Ile) c.5469G>A (p.Met1823Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550847A= | CA1358556729 | SCN5A | c.5522T= (p.Met1841=) c.5525T= (p.Met1842=) c.5471T= (p.Met1824=) c.5363T= (p.Met1788=) c.5426T= (p.Met1809=) c.5396T= (p.Met1799=) c.5468T= (p.Met1823=) | |
| 3 | g.38550847A>C | CA352140926 | SCN5A | c.5522T>G (p.Met1841Arg) c.5525T>G (p.Met1842Arg) c.5471T>G (p.Met1824Arg) c.5363T>G (p.Met1788Arg) c.5426T>G (p.Met1809Arg) c.5396T>G (p.Met1799Arg) c.5468T>G (p.Met1823Arg) | |
| 3 | g.38550847A>G | CA064505 | SCN5A | c.5522T>C (p.Met1841Thr) c.5525T>C (p.Met1842Thr) c.5471T>C (p.Met1824Thr) c.5363T>C (p.Met1788Thr) c.5426T>C (p.Met1809Thr) c.5396T>C (p.Met1799Thr) c.5468T>C (p.Met1823Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550847A>T | CA352140927 | SCN5A | c.5522T>A (p.Met1841Lys) c.5525T>A (p.Met1842Lys) c.5471T>A (p.Met1824Lys) c.5363T>A (p.Met1788Lys) c.5426T>A (p.Met1809Lys) c.5396T>A (p.Met1799Lys) c.5468T>A (p.Met1823Lys) | |
| 3 | g.38550848T>A | CA064500 | SCN5A | c.5521A>T (p.Met1841Leu) c.5524A>T (p.Met1842Leu) c.5470A>T (p.Met1824Leu) c.5362A>T (p.Met1788Leu) c.5425A>T (p.Met1809Leu) c.5395A>T (p.Met1799Leu) c.5467A>T (p.Met1823Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>C | CA064494 | SCN5A | c.5521A>G (p.Met1841Val) c.5524A>G (p.Met1842Val) c.5470A>G (p.Met1824Val) c.5362A>G (p.Met1788Val) c.5425A>G (p.Met1809Val) c.5395A>G (p.Met1799Val) c.5467A>G (p.Met1823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550848T>G | CA352140928 | SCN5A | c.5521A>C (p.Met1841Leu) c.5524A>C (p.Met1842Leu) c.5470A>C (p.Met1824Leu) c.5362A>C (p.Met1788Leu) c.5425A>C (p.Met1809Leu) c.5395A>C (p.Met1799Leu) c.5467A>C (p.Met1823Leu) | |
| 3 | g.38550848T= | CA1358556735 | SCN5A | c.5521A= (p.Met1841=) c.5524A= (p.Met1842=) c.5470A= (p.Met1824=) c.5362A= (p.Met1788=) c.5425A= (p.Met1809=) c.5395A= (p.Met1799=) c.5467A= (p.Met1823=) | |
| 3 | g.38550849G>A | CA433332115 | SCN5A | c.5520C>T (p.Pro1840=) c.5523C>T (p.Pro1841=) c.5469C>T (p.Pro1823=) c.5361C>T (p.Pro1787=) c.5424C>T (p.Pro1808=) c.5394C>T (p.Pro1798=) c.5466C>T (p.Pro1822=) | dbSNP gnomAD v2 |
| 3 | g.38550849G>C | CA433332116 | SCN5A | c.5520C>G (p.Pro1840=) c.5523C>G (p.Pro1841=) c.5469C>G (p.Pro1823=) c.5361C>G (p.Pro1787=) c.5424C>G (p.Pro1808=) c.5394C>G (p.Pro1798=) c.5466C>G (p.Pro1822=) | |
| 3 | g.38550849G= | CA1358556741 | SCN5A | c.5520C= (p.Pro1840=) c.5523C= (p.Pro1841=) c.5469C= (p.Pro1823=) c.5361C= (p.Pro1787=) c.5424C= (p.Pro1808=) c.5394C= (p.Pro1798=) c.5466C= (p.Pro1822=) | |
| 3 | g.38550849G>T | CA433332117 | SCN5A | c.5520C>A (p.Pro1840=) c.5523C>A (p.Pro1841=) c.5469C>A (p.Pro1823=) c.5361C>A (p.Pro1787=) c.5424C>A (p.Pro1808=) c.5394C>A (p.Pro1798=) c.5466C>A (p.Pro1822=) | |
| 3 | g.38550850G>A | CA352140930 | SCN5A | c.5519C>T (p.Pro1840Leu) c.5522C>T (p.Pro1841Leu) c.5468C>T (p.Pro1823Leu) c.5360C>T (p.Pro1787Leu) c.5423C>T (p.Pro1808Leu) c.5393C>T (p.Pro1798Leu) c.5465C>T (p.Pro1822Leu) | |
| 3 | g.38550850G>C | CA352140929 | SCN5A | c.5519C>G (p.Pro1840Arg) c.5522C>G (p.Pro1841Arg) c.5468C>G (p.Pro1823Arg) c.5360C>G (p.Pro1787Arg) c.5423C>G (p.Pro1808Arg) c.5393C>G (p.Pro1798Arg) c.5465C>G (p.Pro1822Arg) | |
| 3 | g.38550850G>T | CA352140931 | SCN5A | c.5519C>A (p.Pro1840His) c.5522C>A (p.Pro1841His) c.5468C>A (p.Pro1823His) c.5360C>A (p.Pro1787His) c.5423C>A (p.Pro1808His) c.5393C>A (p.Pro1798His) c.5465C>A (p.Pro1822His) | |
| 3 | g.38550851G>A | CA352140932 | SCN5A | c.5518C>T (p.Pro1840Ser) c.5521C>T (p.Pro1841Ser) c.5467C>T (p.Pro1823Ser) c.5359C>T (p.Pro1787Ser) c.5422C>T (p.Pro1808Ser) c.5392C>T (p.Pro1798Ser) c.5464C>T (p.Pro1822Ser) | |
| 3 | g.38550851G>C | CA352140934 | SCN5A | c.5518C>G (p.Pro1840Ala) c.5521C>G (p.Pro1841Ala) c.5467C>G (p.Pro1823Ala) c.5359C>G (p.Pro1787Ala) c.5422C>G (p.Pro1808Ala) c.5392C>G (p.Pro1798Ala) c.5464C>G (p.Pro1822Ala) | |
| 3 | g.38550851G>T | CA352140933 | SCN5A | c.5518C>A (p.Pro1840Thr) c.5521C>A (p.Pro1841Thr) c.5467C>A (p.Pro1823Thr) c.5359C>A (p.Pro1787Thr) c.5422C>A (p.Pro1808Thr) c.5392C>A (p.Pro1798Thr) c.5464C>A (p.Pro1822Thr) | |
| 3 | g.38550852C>A | CA433332124 | SCN5A | c.5517G>T (p.Leu1839=) c.5520G>T (p.Leu1840=) c.5466G>T (p.Leu1822=) c.5358G>T (p.Leu1786=) c.5421G>T (p.Leu1807=) c.5391G>T (p.Leu1797=) c.5463G>T (p.Leu1821=) | |
| 3 | g.38550852C= | CA1358556744 | SCN5A | c.5517G= (p.Leu1839=) c.5520G= (p.Leu1840=) c.5466G= (p.Leu1822=) c.5358G= (p.Leu1786=) c.5421G= (p.Leu1807=) c.5391G= (p.Leu1797=) c.5463G= (p.Leu1821=) | |
| 3 | g.38550852C>G | CA433332125 | SCN5A | c.5517G>C (p.Leu1839=) c.5520G>C (p.Leu1840=) c.5466G>C (p.Leu1822=) c.5358G>C (p.Leu1786=) c.5421G>C (p.Leu1807=) c.5391G>C (p.Leu1797=) c.5463G>C (p.Leu1821=) | gnomAD v4 |
| 3 | g.38550852C>T | CA433332126 | SCN5A | c.5517G>A (p.Leu1839=) c.5520G>A (p.Leu1840=) c.5466G>A (p.Leu1822=) c.5358G>A (p.Leu1786=) c.5421G>A (p.Leu1807=) c.5391G>A (p.Leu1797=) c.5463G>A (p.Leu1821=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550853A>C | CA352140935 | SCN5A | c.5516T>G (p.Leu1839Arg) c.5519T>G (p.Leu1840Arg) c.5465T>G (p.Leu1822Arg) c.5357T>G (p.Leu1786Arg) c.5420T>G (p.Leu1807Arg) c.5390T>G (p.Leu1797Arg) c.5462T>G (p.Leu1821Arg) | ClinVar dbSNP |
| 3 | g.38550853A>G | CA352140937 | SCN5A | c.5516T>C (p.Leu1839Pro) c.5519T>C (p.Leu1840Pro) c.5465T>C (p.Leu1822Pro) c.5357T>C (p.Leu1786Pro) c.5420T>C (p.Leu1807Pro) c.5390T>C (p.Leu1797Pro) c.5462T>C (p.Leu1821Pro) | |
| 3 | g.38550853A>T | CA352140936 | SCN5A | c.5516T>A (p.Leu1839Gln) c.5519T>A (p.Leu1840Gln) c.5465T>A (p.Leu1822Gln) c.5357T>A (p.Leu1786Gln) c.5420T>A (p.Leu1807Gln) c.5390T>A (p.Leu1797Gln) c.5462T>A (p.Leu1821Gln) | |
| 3 | g.38550854G>A | CA433332127 | SCN5A | c.5515C>T (p.Leu1839=) c.5518C>T (p.Leu1840=) c.5464C>T (p.Leu1822=) c.5356C>T (p.Leu1786=) c.5419C>T (p.Leu1807=) c.5389C>T (p.Leu1797=) c.5461C>T (p.Leu1821=) | |
| 3 | g.38550854G>C | CA352140938 | SCN5A | c.5515C>G (p.Leu1839Val) c.5518C>G (p.Leu1840Val) c.5464C>G (p.Leu1822Val) c.5356C>G (p.Leu1786Val) c.5419C>G (p.Leu1807Val) c.5389C>G (p.Leu1797Val) c.5461C>G (p.Leu1821Val) | |
| 3 | g.38550854G>T | CA352140939 | SCN5A | c.5515C>A (p.Leu1839Met) c.5518C>A (p.Leu1840Met) c.5464C>A (p.Leu1822Met) c.5356C>A (p.Leu1786Met) c.5419C>A (p.Leu1807Met) c.5389C>A (p.Leu1797Met) c.5461C>A (p.Leu1821Met) | |
| 3 | g.38550855G>A | CA433332128 | SCN5A | c.5514C>T (p.Asp1838=) c.5517C>T (p.Asp1839=) c.5463C>T (p.Asp1821=) c.5355C>T (p.Asp1785=) c.5418C>T (p.Asp1806=) c.5388C>T (p.Asp1796=) c.5460C>T (p.Asp1820=) | gnomAD v4 |
| 3 | g.38550855G>C | CA352140940 | SCN5A | c.5514C>G (p.Asp1838Glu) c.5517C>G (p.Asp1839Glu) c.5463C>G (p.Asp1821Glu) c.5355C>G (p.Asp1785Glu) c.5418C>G (p.Asp1806Glu) c.5388C>G (p.Asp1796Glu) c.5460C>G (p.Asp1820Glu) | |
| 3 | g.38550855G>T | CA352140941 | SCN5A | c.5514C>A (p.Asp1838Glu) c.5517C>A (p.Asp1839Glu) c.5463C>A (p.Asp1821Glu) c.5355C>A (p.Asp1785Glu) c.5418C>A (p.Asp1806Glu) c.5388C>A (p.Asp1796Glu) c.5460C>A (p.Asp1820Glu) | |
| 3 | g.38550856T>A | CA352140942 | SCN5A | c.5513A>T (p.Asp1838Val) c.5516A>T (p.Asp1839Val) c.5462A>T (p.Asp1821Val) c.5354A>T (p.Asp1785Val) c.5417A>T (p.Asp1806Val) c.5387A>T (p.Asp1796Val) c.5459A>T (p.Asp1820Val) | |
| 3 | g.38550856T>C | CA019309 | SCN5A | c.5513A>G (p.Asp1838Gly) c.5516A>G (p.Asp1839Gly) c.5462A>G (p.Asp1821Gly) c.5354A>G (p.Asp1785Gly) c.5417A>G (p.Asp1806Gly) c.5387A>G (p.Asp1796Gly) c.5459A>G (p.Asp1820Gly) | ClinVar dbSNP |
| 3 | g.38550856T>G | CA352140943 | SCN5A | c.5513A>C (p.Asp1838Ala) c.5516A>C (p.Asp1839Ala) c.5462A>C (p.Asp1821Ala) c.5354A>C (p.Asp1785Ala) c.5417A>C (p.Asp1806Ala) c.5387A>C (p.Asp1796Ala) c.5459A>C (p.Asp1820Ala) | gnomAD v4 |
| 3 | g.38550856T= | CA1358556749 | SCN5A | c.5513A= (p.Asp1838=) c.5516A= (p.Asp1839=) c.5462A= (p.Asp1821=) c.5354A= (p.Asp1785=) c.5417A= (p.Asp1806=) c.5387A= (p.Asp1796=) c.5459A= (p.Asp1820=) | |
| 3 | g.38550857C>A | CA352140944 | SCN5A | c.5512G>T (p.Asp1838Tyr) c.5515G>T (p.Asp1839Tyr) c.5461G>T (p.Asp1821Tyr) c.5353G>T (p.Asp1785Tyr) c.5416G>T (p.Asp1806Tyr) c.5386G>T (p.Asp1796Tyr) c.5458G>T (p.Asp1820Tyr) | |
| 3 | g.38550857C= | CA1358556753 | SCN5A | c.5512G= (p.Asp1838=) c.5515G= (p.Asp1839=) c.5461G= (p.Asp1821=) c.5353G= (p.Asp1785=) c.5416G= (p.Asp1806=) c.5386G= (p.Asp1796=) c.5458G= (p.Asp1820=) | |
| 3 | g.38550857C>G | CA352140945 | SCN5A | c.5512G>C (p.Asp1838His) c.5515G>C (p.Asp1839His) c.5461G>C (p.Asp1821His) c.5353G>C (p.Asp1785His) c.5416G>C (p.Asp1806His) c.5386G>C (p.Asp1796His) c.5458G>C (p.Asp1820His) | |
| 3 | g.38550857C>T | CA352140946 | SCN5A | c.5512G>A (p.Asp1838Asn) c.5515G>A (p.Asp1839Asn) c.5461G>A (p.Asp1821Asn) c.5353G>A (p.Asp1785Asn) c.5416G>A (p.Asp1806Asn) c.5386G>A (p.Asp1796Asn) c.5458G>A (p.Asp1820Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550858C>A | CA352140947 | SCN5A | c.5511G>T (p.Met1837Ile) c.5514G>T (p.Met1838Ile) c.5460G>T (p.Met1820Ile) c.5352G>T (p.Met1784Ile) c.5415G>T (p.Met1805Ile) c.5385G>T (p.Met1795Ile) c.5457G>T (p.Met1819Ile) | |
| 3 | g.38550858C>G | CA352140948 | SCN5A | c.5511G>C (p.Met1837Ile) c.5514G>C (p.Met1838Ile) c.5460G>C (p.Met1820Ile) c.5352G>C (p.Met1784Ile) c.5415G>C (p.Met1805Ile) c.5385G>C (p.Met1795Ile) c.5457G>C (p.Met1819Ile) | |
| 3 | g.38550858C>T | CA352140949 | SCN5A | c.5511G>A (p.Met1837Ile) c.5514G>A (p.Met1838Ile) c.5460G>A (p.Met1820Ile) c.5352G>A (p.Met1784Ile) c.5415G>A (p.Met1805Ile) c.5385G>A (p.Met1795Ile) c.5457G>A (p.Met1819Ile) | |
| 3 | g.38550859A= | CA1358556755 | SCN5A | c.5510T= (p.Met1837=) c.5513T= (p.Met1838=) c.5459T= (p.Met1820=) c.5351T= (p.Met1784=) c.5414T= (p.Met1805=) c.5384T= (p.Met1795=) c.5456T= (p.Met1819=) | |
| 3 | g.38550859A>C | CA352140952 | SCN5A | c.5510T>G (p.Met1837Arg) c.5513T>G (p.Met1838Arg) c.5459T>G (p.Met1820Arg) c.5351T>G (p.Met1784Arg) c.5414T>G (p.Met1805Arg) c.5384T>G (p.Met1795Arg) c.5456T>G (p.Met1819Arg) | |
| 3 | g.38550859A>G | CA352140950 | SCN5A | c.5510T>C (p.Met1837Thr) c.5513T>C (p.Met1838Thr) c.5459T>C (p.Met1820Thr) c.5351T>C (p.Met1784Thr) c.5414T>C (p.Met1805Thr) c.5384T>C (p.Met1795Thr) c.5456T>C (p.Met1819Thr) | ClinVar |
| 3 | g.38550859A>T | CA352140951 | SCN5A | c.5510T>A (p.Met1837Lys) c.5513T>A (p.Met1838Lys) c.5459T>A (p.Met1820Lys) c.5351T>A (p.Met1784Lys) c.5414T>A (p.Met1805Lys) c.5384T>A (p.Met1795Lys) c.5456T>A (p.Met1819Lys) | ClinVar dbSNP |
| 3 | g.38550860T>A | CA352140953 | SCN5A | c.5509A>T (p.Met1837Leu) c.5512A>T (p.Met1838Leu) c.5458A>T (p.Met1820Leu) c.5350A>T (p.Met1784Leu) c.5413A>T (p.Met1805Leu) c.5383A>T (p.Met1795Leu) c.5455A>T (p.Met1819Leu) | |
| 3 | g.38550860T>C | CA352140954 | SCN5A | c.5509A>G (p.Met1837Val) c.5512A>G (p.Met1838Val) c.5458A>G (p.Met1820Val) c.5350A>G (p.Met1784Val) c.5413A>G (p.Met1805Val) c.5383A>G (p.Met1795Val) c.5455A>G (p.Met1819Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550860T>G | CA352140955 | SCN5A | c.5509A>C (p.Met1837Leu) c.5512A>C (p.Met1838Leu) c.5458A>C (p.Met1820Leu) c.5350A>C (p.Met1784Leu) c.5413A>C (p.Met1805Leu) c.5383A>C (p.Met1795Leu) c.5455A>C (p.Met1819Leu) | |
| 3 | g.38550860T= | CA1358556759 | SCN5A | c.5509A= (p.Met1837=) c.5512A= (p.Met1838=) c.5458A= (p.Met1820=) c.5350A= (p.Met1784=) c.5413A= (p.Met1805=) c.5383A= (p.Met1795=) c.5455A= (p.Met1819=) | |
| 3 | g.38550861G>A | CA16604557 | SCN5A | c.5508C>T (p.Asn1836=) c.5511C>T (p.Asn1837=) c.5457C>T (p.Asn1819=) c.5349C>T (p.Asn1783=) c.5412C>T (p.Asn1804=) c.5382C>T (p.Asn1794=) c.5454C>T (p.Asn1818=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550861G>C | CA352140956 | SCN5A | c.5508C>G (p.Asn1836Lys) c.5511C>G (p.Asn1837Lys) c.5457C>G (p.Asn1819Lys) c.5349C>G (p.Asn1783Lys) c.5412C>G (p.Asn1804Lys) c.5382C>G (p.Asn1794Lys) c.5454C>G (p.Asn1818Lys) | |
| 3 | g.38550861G= | CA1358556765 | SCN5A | c.5508C= (p.Asn1836=) c.5511C= (p.Asn1837=) c.5457C= (p.Asn1819=) c.5349C= (p.Asn1783=) c.5412C= (p.Asn1804=) c.5382C= (p.Asn1794=) c.5454C= (p.Asn1818=) | |
| 3 | g.38550861G>T | CA16604559 | SCN5A | c.5508C>A (p.Asn1836Lys) c.5511C>A (p.Asn1837Lys) c.5457C>A (p.Asn1819Lys) c.5349C>A (p.Asn1783Lys) c.5412C>A (p.Asn1804Lys) c.5382C>A (p.Asn1794Lys) c.5454C>A (p.Asn1818Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550862T>A | CA352140957 | SCN5A | c.5507A>T (p.Asn1836Ile) c.5510A>T (p.Asn1837Ile) c.5456A>T (p.Asn1819Ile) c.5348A>T (p.Asn1783Ile) c.5411A>T (p.Asn1804Ile) c.5381A>T (p.Asn1794Ile) c.5453A>T (p.Asn1818Ile) | |
| 3 | g.38550862T>C | CA352140958 | SCN5A | c.5507A>G (p.Asn1836Ser) c.5510A>G (p.Asn1837Ser) c.5456A>G (p.Asn1819Ser) c.5348A>G (p.Asn1783Ser) c.5411A>G (p.Asn1804Ser) c.5381A>G (p.Asn1794Ser) c.5453A>G (p.Asn1818Ser) | |
| 3 | g.38550862T>G | CA352140959 | SCN5A | c.5507A>C (p.Asn1836Thr) c.5510A>C (p.Asn1837Thr) c.5456A>C (p.Asn1819Thr) c.5348A>C (p.Asn1783Thr) c.5411A>C (p.Asn1804Thr) c.5381A>C (p.Asn1794Thr) c.5453A>C (p.Asn1818Thr) | |
| 3 | g.38550863T>A | CA352140960 | SCN5A | c.5506A>T (p.Asn1836Tyr) c.5509A>T (p.Asn1837Tyr) c.5455A>T (p.Asn1819Tyr) c.5347A>T (p.Asn1783Tyr) c.5410A>T (p.Asn1804Tyr) c.5380A>T (p.Asn1794Tyr) c.5452A>T (p.Asn1818Tyr) | |
| 3 | g.38550863T>C | CA352140961 | SCN5A | c.5506A>G (p.Asn1836Asp) c.5509A>G (p.Asn1837Asp) c.5455A>G (p.Asn1819Asp) c.5347A>G (p.Asn1783Asp) c.5410A>G (p.Asn1804Asp) c.5380A>G (p.Asn1794Asp) c.5452A>G (p.Asn1818Asp) | |
| 3 | g.38550863T>G | CA352140962 | SCN5A | c.5506A>C (p.Asn1836His) c.5509A>C (p.Asn1837His) c.5455A>C (p.Asn1819His) c.5347A>C (p.Asn1783His) c.5410A>C (p.Asn1804His) c.5380A>C (p.Asn1794His) c.5452A>C (p.Asn1818His) | |
| 3 | g.38550864G>A | CA433332136 | SCN5A | c.5505C>T (p.Ile1835=) c.5508C>T (p.Ile1836=) c.5454C>T (p.Ile1818=) c.5346C>T (p.Ile1782=) c.5409C>T (p.Ile1803=) c.5379C>T (p.Ile1793=) c.5451C>T (p.Ile1817=) | |
| 3 | g.38550864G>C | CA352140963 | SCN5A | c.5505C>G (p.Ile1835Met) c.5508C>G (p.Ile1836Met) c.5454C>G (p.Ile1818Met) c.5346C>G (p.Ile1782Met) c.5409C>G (p.Ile1803Met) c.5379C>G (p.Ile1793Met) c.5451C>G (p.Ile1817Met) | |
| 3 | g.38550864G>T | CA433332138 | SCN5A | c.5505C>A (p.Ile1835=) c.5508C>A (p.Ile1836=) c.5454C>A (p.Ile1818=) c.5346C>A (p.Ile1782=) c.5409C>A (p.Ile1803=) c.5379C>A (p.Ile1793=) c.5451C>A (p.Ile1817=) | ClinVar dbSNP |
| 3 | g.38550865A= | CA1358556770 | SCN5A | c.5504T= (p.Ile1835=) c.5507T= (p.Ile1836=) c.5453T= (p.Ile1818=) c.5345T= (p.Ile1782=) c.5408T= (p.Ile1803=) c.5378T= (p.Ile1793=) c.5450T= (p.Ile1817=) | |
| 3 | g.38550865A>C | CA352140964 | SCN5A | c.5504T>G (p.Ile1835Ser) c.5507T>G (p.Ile1836Ser) c.5453T>G (p.Ile1818Ser) c.5345T>G (p.Ile1782Ser) c.5408T>G (p.Ile1803Ser) c.5378T>G (p.Ile1793Ser) c.5450T>G (p.Ile1817Ser) | |
| 3 | g.38550865A>G | CA019303 | SCN5A | c.5504T>C (p.Ile1835Thr) c.5507T>C (p.Ile1836Thr) c.5453T>C (p.Ile1818Thr) c.5345T>C (p.Ile1782Thr) c.5408T>C (p.Ile1803Thr) c.5378T>C (p.Ile1793Thr) c.5450T>C (p.Ile1817Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550865A>T | CA352140965 | SCN5A | c.5504T>A (p.Ile1835Asn) c.5507T>A (p.Ile1836Asn) c.5453T>A (p.Ile1818Asn) c.5345T>A (p.Ile1782Asn) c.5408T>A (p.Ile1803Asn) c.5378T>A (p.Ile1793Asn) c.5450T>A (p.Ile1817Asn) | |
| 3 | g.38550866T>A | CA352140966 | SCN5A | c.5503A>T (p.Ile1835Phe) c.5506A>T (p.Ile1836Phe) c.5452A>T (p.Ile1818Phe) c.5344A>T (p.Ile1782Phe) c.5407A>T (p.Ile1803Phe) c.5377A>T (p.Ile1793Phe) c.5449A>T (p.Ile1817Phe) | |
| 3 | g.38550866T>C | CA352140967 | SCN5A | c.5503A>G (p.Ile1835Val) c.5506A>G (p.Ile1836Val) c.5452A>G (p.Ile1818Val) c.5344A>G (p.Ile1782Val) c.5407A>G (p.Ile1803Val) c.5377A>G (p.Ile1793Val) c.5449A>G (p.Ile1817Val) | |
| 3 | g.38550866T>G | CA352140968 | SCN5A | c.5503A>C (p.Ile1835Leu) c.5506A>C (p.Ile1836Leu) c.5452A>C (p.Ile1818Leu) c.5344A>C (p.Ile1782Leu) c.5407A>C (p.Ile1803Leu) c.5377A>C (p.Ile1793Leu) c.5449A>C (p.Ile1817Leu) | |
| 3 | g.38550867G>A | CA064480 | SCN5A | c.5502C>T (p.Leu1834=) c.5505C>T (p.Leu1835=) c.5451C>T (p.Leu1817=) c.5343C>T (p.Leu1781=) c.5406C>T (p.Leu1802=) c.5376C>T (p.Leu1792=) c.5448C>T (p.Leu1816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550867G>C | CA433332145 | SCN5A | c.5502C>G (p.Leu1834=) c.5505C>G (p.Leu1835=) c.5451C>G (p.Leu1817=) c.5343C>G (p.Leu1781=) c.5406C>G (p.Leu1802=) c.5376C>G (p.Leu1792=) c.5448C>G (p.Leu1816=) | |
| 3 | g.38550867G= | CA1358556772 | SCN5A | c.5502C= (p.Leu1834=) c.5505C= (p.Leu1835=) c.5451C= (p.Leu1817=) c.5343C= (p.Leu1781=) c.5406C= (p.Leu1802=) c.5376C= (p.Leu1792=) c.5448C= (p.Leu1816=) | |
| 3 | g.38550867G>T | CA433332144 | SCN5A | c.5502C>A (p.Leu1834=) c.5505C>A (p.Leu1835=) c.5451C>A (p.Leu1817=) c.5343C>A (p.Leu1781=) c.5406C>A (p.Leu1802=) c.5376C>A (p.Leu1792=) c.5448C>A (p.Leu1816=) | dbSNP gnomAD v2 |
| 3 | g.38550868A>C | CA352140969 | SCN5A | c.5501T>G (p.Leu1834Arg) c.5504T>G (p.Leu1835Arg) c.5450T>G (p.Leu1817Arg) c.5342T>G (p.Leu1781Arg) c.5405T>G (p.Leu1802Arg) c.5375T>G (p.Leu1792Arg) c.5447T>G (p.Leu1816Arg) | |
| 3 | g.38550868A>G | CA352140970 | SCN5A | c.5501T>C (p.Leu1834Pro) c.5504T>C (p.Leu1835Pro) c.5450T>C (p.Leu1817Pro) c.5342T>C (p.Leu1781Pro) c.5405T>C (p.Leu1802Pro) c.5375T>C (p.Leu1792Pro) c.5447T>C (p.Leu1816Pro) | |
| 3 | g.38550868A>T | CA352140971 | SCN5A | c.5501T>A (p.Leu1834His) c.5504T>A (p.Leu1835His) c.5450T>A (p.Leu1817His) c.5342T>A (p.Leu1781His) c.5405T>A (p.Leu1802His) c.5375T>A (p.Leu1792His) c.5447T>A (p.Leu1816His) | |
| 3 | g.38550869G>A | CA352140972 | SCN5A | c.5500C>T (p.Leu1834Phe) c.5503C>T (p.Leu1835Phe) c.5449C>T (p.Leu1817Phe) c.5341C>T (p.Leu1781Phe) c.5404C>T (p.Leu1802Phe) c.5374C>T (p.Leu1792Phe) c.5446C>T (p.Leu1816Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550869G>C | CA352140973 | SCN5A | c.5500C>G (p.Leu1834Val) c.5503C>G (p.Leu1835Val) c.5449C>G (p.Leu1817Val) c.5341C>G (p.Leu1781Val) c.5404C>G (p.Leu1802Val) c.5374C>G (p.Leu1792Val) c.5446C>G (p.Leu1816Val) | |
| 3 | g.38550869G= | CA1358556776 | SCN5A | c.5500C= (p.Leu1834=) c.5503C= (p.Leu1835=) c.5449C= (p.Leu1817=) c.5341C= (p.Leu1781=) c.5404C= (p.Leu1802=) c.5374C= (p.Leu1792=) c.5446C= (p.Leu1816=) | |
| 3 | g.38550869G>T | CA352140974 | SCN5A | c.5500C>A (p.Leu1834Ile) c.5503C>A (p.Leu1835Ile) c.5449C>A (p.Leu1817Ile) c.5341C>A (p.Leu1781Ile) c.5404C>A (p.Leu1802Ile) c.5374C>A (p.Leu1792Ile) c.5446C>A (p.Leu1816Ile) | ClinVar dbSNP |
| 3 | g.38550870G>A | CA433332149 | SCN5A | c.5499C>T (p.Ser1833=) c.5502C>T (p.Ser1834=) c.5448C>T (p.Ser1816=) c.5340C>T (p.Ser1780=) c.5403C>T (p.Ser1801=) c.5373C>T (p.Ser1791=) c.5445C>T (p.Ser1815=) | |
| 3 | g.38550870G>C | CA352140975 | SCN5A | c.5499C>G (p.Ser1833Arg) c.5502C>G (p.Ser1834Arg) c.5448C>G (p.Ser1816Arg) c.5340C>G (p.Ser1780Arg) c.5403C>G (p.Ser1801Arg) c.5373C>G (p.Ser1791Arg) c.5445C>G (p.Ser1815Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550870G= | CA1358556778 | SCN5A | c.5499C= (p.Ser1833=) c.5502C= (p.Ser1834=) c.5448C= (p.Ser1816=) c.5340C= (p.Ser1780=) c.5403C= (p.Ser1801=) c.5373C= (p.Ser1791=) c.5445C= (p.Ser1815=) | |
| 3 | g.38550870G>T | CA352140976 | SCN5A | c.5499C>A (p.Ser1833Arg) c.5502C>A (p.Ser1834Arg) c.5448C>A (p.Ser1816Arg) c.5340C>A (p.Ser1780Arg) c.5403C>A (p.Ser1801Arg) c.5373C>A (p.Ser1791Arg) c.5445C>A (p.Ser1815Arg) | |
| 3 | g.38550871C>A | CA352140977 | SCN5A | c.5498G>T (p.Ser1833Ile) c.5501G>T (p.Ser1834Ile) c.5447G>T (p.Ser1816Ile) c.5339G>T (p.Ser1780Ile) c.5402G>T (p.Ser1801Ile) c.5372G>T (p.Ser1791Ile) c.5444G>T (p.Ser1815Ile) | |
| 3 | g.38550871C>G | CA352140979 | SCN5A | c.5498G>C (p.Ser1833Thr) c.5501G>C (p.Ser1834Thr) c.5447G>C (p.Ser1816Thr) c.5339G>C (p.Ser1780Thr) c.5402G>C (p.Ser1801Thr) c.5372G>C (p.Ser1791Thr) c.5444G>C (p.Ser1815Thr) | |
| 3 | g.38550871C>T | CA352140978 | SCN5A | c.5498G>A (p.Ser1833Asn) c.5501G>A (p.Ser1834Asn) c.5447G>A (p.Ser1816Asn) c.5339G>A (p.Ser1780Asn) c.5402G>A (p.Ser1801Asn) c.5372G>A (p.Ser1791Asn) c.5444G>A (p.Ser1815Asn) | |
| 3 | g.38550872T>A | CA352140980 | SCN5A | c.5497A>T (p.Ser1833Cys) c.5500A>T (p.Ser1834Cys) c.5446A>T (p.Ser1816Cys) c.5338A>T (p.Ser1780Cys) c.5401A>T (p.Ser1801Cys) c.5371A>T (p.Ser1791Cys) c.5443A>T (p.Ser1815Cys) | |
| 3 | g.38550872T>C | CA352140981 | SCN5A | c.5497A>G (p.Ser1833Gly) c.5500A>G (p.Ser1834Gly) c.5446A>G (p.Ser1816Gly) c.5338A>G (p.Ser1780Gly) c.5401A>G (p.Ser1801Gly) c.5371A>G (p.Ser1791Gly) c.5443A>G (p.Ser1815Gly) | |
| 3 | g.38550872T>G | CA352140982 | SCN5A | c.5497A>C (p.Ser1833Arg) c.5500A>C (p.Ser1834Arg) c.5446A>C (p.Ser1816Arg) c.5338A>C (p.Ser1780Arg) c.5401A>C (p.Ser1801Arg) c.5371A>C (p.Ser1791Arg) c.5443A>C (p.Ser1815Arg) | ClinVar |
| 3 | g.38550873T>A | CA433332154 | SCN5A | c.5496A>T (p.Ile1832=) c.5499A>T (p.Ile1833=) c.5445A>T (p.Ile1815=) c.5337A>T (p.Ile1779=) c.5400A>T (p.Ile1800=) c.5370A>T (p.Ile1790=) c.5442A>T (p.Ile1814=) | |
| 3 | g.38550873T>C | CA352140983 | SCN5A | c.5496A>G (p.Ile1832Met) c.5499A>G (p.Ile1833Met) c.5445A>G (p.Ile1815Met) c.5337A>G (p.Ile1779Met) c.5400A>G (p.Ile1800Met) c.5370A>G (p.Ile1790Met) c.5442A>G (p.Ile1814Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550873T>G | CA433332156 | SCN5A | c.5496A>C (p.Ile1832=) c.5499A>C (p.Ile1833=) c.5445A>C (p.Ile1815=) c.5337A>C (p.Ile1779=) c.5400A>C (p.Ile1800=) c.5370A>C (p.Ile1790=) c.5442A>C (p.Ile1814=) | |
| 3 | g.38550873T= | CA1358556779 | SCN5A | c.5496A= (p.Ile1832=) c.5499A= (p.Ile1833=) c.5445A= (p.Ile1815=) c.5337A= (p.Ile1779=) c.5400A= (p.Ile1800=) c.5370A= (p.Ile1790=) c.5442A= (p.Ile1814=) | |
| 3 | g.38550874A>C | CA352140984 | SCN5A | c.5495T>G (p.Ile1832Arg) c.5498T>G (p.Ile1833Arg) c.5444T>G (p.Ile1815Arg) c.5336T>G (p.Ile1779Arg) c.5399T>G (p.Ile1800Arg) c.5369T>G (p.Ile1790Arg) c.5441T>G (p.Ile1814Arg) | |
| 3 | g.38550874A>G | CA352140985 | SCN5A | c.5495T>C (p.Ile1832Thr) c.5498T>C (p.Ile1833Thr) c.5444T>C (p.Ile1815Thr) c.5336T>C (p.Ile1779Thr) c.5399T>C (p.Ile1800Thr) c.5369T>C (p.Ile1790Thr) c.5441T>C (p.Ile1814Thr) | |
| 3 | g.38550874A>T | CA352140986 | SCN5A | c.5495T>A (p.Ile1832Lys) c.5498T>A (p.Ile1833Lys) c.5444T>A (p.Ile1815Lys) c.5336T>A (p.Ile1779Lys) c.5399T>A (p.Ile1800Lys) c.5369T>A (p.Ile1790Lys) c.5441T>A (p.Ile1814Lys) | |
| 3 | g.38550875T>A | CA352140987 | SCN5A | c.5494A>T (p.Ile1832Leu) c.5497A>T (p.Ile1833Leu) c.5443A>T (p.Ile1815Leu) c.5335A>T (p.Ile1779Leu) c.5398A>T (p.Ile1800Leu) c.5368A>T (p.Ile1790Leu) c.5440A>T (p.Ile1814Leu) | ClinVar gnomAD v4 |
| 3 | g.38550875T>C | CA352140988 | SCN5A | c.5494A>G (p.Ile1832Val) c.5497A>G (p.Ile1833Val) c.5443A>G (p.Ile1815Val) c.5335A>G (p.Ile1779Val) c.5398A>G (p.Ile1800Val) c.5368A>G (p.Ile1790Val) c.5440A>G (p.Ile1814Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550875T>G | CA352140989 | SCN5A | c.5494A>C (p.Ile1832Leu) c.5497A>C (p.Ile1833Leu) c.5443A>C (p.Ile1815Leu) c.5335A>C (p.Ile1779Leu) c.5398A>C (p.Ile1800Leu) c.5368A>C (p.Ile1790Leu) c.5440A>C (p.Ile1814Leu) | ClinVar |
| 3 | g.38550875T= | CA1358556784 | SCN5A | c.5494A= (p.Ile1832=) c.5497A= (p.Ile1833=) c.5443A= (p.Ile1815=) c.5335A= (p.Ile1779=) c.5398A= (p.Ile1800=) c.5368A= (p.Ile1790=) c.5440A= (p.Ile1814=) | |
| 3 | g.38550876C>A | CA352140991 | SCN5A | c.5493G>T (p.Gln1831His) c.5496G>T (p.Gln1832His) c.5442G>T (p.Gln1814His) c.5334G>T (p.Gln1778His) c.5397G>T (p.Gln1799His) c.5367G>T (p.Gln1789His) c.5439G>T (p.Gln1813His) | |
| 3 | g.38550876C>G | CA352140990 | SCN5A | c.5493G>C (p.Gln1831His) c.5496G>C (p.Gln1832His) c.5442G>C (p.Gln1814His) c.5334G>C (p.Gln1778His) c.5397G>C (p.Gln1799His) c.5367G>C (p.Gln1789His) c.5439G>C (p.Gln1813His) | |
| 3 | g.38550876C>T | CA433332167 | SCN5A | c.5493G>A (p.Gln1831=) c.5496G>A (p.Gln1832=) c.5442G>A (p.Gln1814=) c.5334G>A (p.Gln1778=) c.5397G>A (p.Gln1799=) c.5367G>A (p.Gln1789=) c.5439G>A (p.Gln1813=) | |
| 3 | g.38550877T>A | CA352140992 | SCN5A | c.5492A>T (p.Gln1831Leu) c.5495A>T (p.Gln1832Leu) c.5441A>T (p.Gln1814Leu) c.5333A>T (p.Gln1778Leu) c.5396A>T (p.Gln1799Leu) c.5366A>T (p.Gln1789Leu) c.5438A>T (p.Gln1813Leu) | |
| 3 | g.38550877T>C | CA352140994 | SCN5A | c.5492A>G (p.Gln1831Arg) c.5495A>G (p.Gln1832Arg) c.5441A>G (p.Gln1814Arg) c.5333A>G (p.Gln1778Arg) c.5396A>G (p.Gln1799Arg) c.5366A>G (p.Gln1789Arg) c.5438A>G (p.Gln1813Arg) | |
| 3 | g.38550877T>G | CA352140993 | SCN5A | c.5492A>C (p.Gln1831Pro) c.5495A>C (p.Gln1832Pro) c.5441A>C (p.Gln1814Pro) c.5333A>C (p.Gln1778Pro) c.5396A>C (p.Gln1799Pro) c.5366A>C (p.Gln1789Pro) c.5438A>C (p.Gln1813Pro) | |
| 3 | g.38550877_38550878delinsTG | CA1358556786 | SCN5A | c.5491_5492delinsCA (p.Gln1831=) c.5494_5495delinsCA (p.Gln1832=) c.5440_5441delinsCA (p.Gln1814=) c.5332_5333delinsCA (p.Gln1778=) c.5395_5396delinsCA (p.Gln1799=) c.5365_5366delinsCA (p.Gln1789=) c.5437_5438delinsCA (p.Gln1813=) | |
| 3 | g.38550878G>A | CA352140995 | SCN5A | c.5491C>T (p.Gln1831Ter) c.5494C>T (p.Gln1832Ter) c.5440C>T (p.Gln1814Ter) c.5332C>T (p.Gln1778Ter) c.5395C>T (p.Gln1799Ter) c.5365C>T (p.Gln1789Ter) c.5437C>T (p.Gln1813Ter) | |
| 3 | g.38550878G>C | CA019294 | SCN5A | c.5491C>G (p.Gln1831Glu) c.5494C>G (p.Gln1832Glu) c.5440C>G (p.Gln1814Glu) c.5332C>G (p.Gln1778Glu) c.5395C>G (p.Gln1799Glu) c.5365C>G (p.Gln1789Glu) c.5437C>G (p.Gln1813Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550878G= | CA1358556789 | SCN5A | c.5491C= (p.Gln1831=) c.5494C= (p.Gln1832=) c.5440C= (p.Gln1814=) c.5332C= (p.Gln1778=) c.5395C= (p.Gln1799=) c.5365C= (p.Gln1789=) c.5437C= (p.Gln1813=) | |
| 3 | g.38550878G>T | CA352140996 | SCN5A | c.5491C>A (p.Gln1831Lys) c.5494C>A (p.Gln1832Lys) c.5440C>A (p.Gln1814Lys) c.5332C>A (p.Gln1778Lys) c.5395C>A (p.Gln1799Lys) c.5365C>A (p.Gln1789Lys) c.5437C>A (p.Gln1813Lys) | ClinVar dbSNP |
| 3 | g.38550879del | CA916079915 | SCN5A | c.5491del (p.Gln1831ArgfsTer2) c.5494del (p.Gln1832ArgfsTer2) c.5440del (p.Gln1814ArgfsTer2) c.5332del (p.Gln1778ArgfsTer2) c.5395del (p.Gln1799ArgfsTer2) c.5365del (p.Gln1789ArgfsTer2) c.5437del (p.Gln1813ArgfsTer2) | ClinVar dbSNP |
| 3 | g.38550879G>A | CA433332173 | SCN5A | c.5490C>T (p.Asn1830=) c.5493C>T (p.Asn1831=) c.5439C>T (p.Asn1813=) c.5331C>T (p.Asn1777=) c.5394C>T (p.Asn1798=) c.5364C>T (p.Asn1788=) c.5436C>T (p.Asn1812=) | dbSNP gnomAD v2 |
| 3 | g.38550879G>C | CA352140997 | SCN5A | c.5490C>G (p.Asn1830Lys) c.5493C>G (p.Asn1831Lys) c.5439C>G (p.Asn1813Lys) c.5331C>G (p.Asn1777Lys) c.5394C>G (p.Asn1798Lys) c.5364C>G (p.Asn1788Lys) c.5436C>G (p.Asn1812Lys) | |
| 3 | g.38550879G= | CA1358556796 | SCN5A | c.5490C= (p.Asn1830=) c.5493C= (p.Asn1831=) c.5439C= (p.Asn1813=) c.5331C= (p.Asn1777=) c.5394C= (p.Asn1798=) c.5364C= (p.Asn1788=) c.5436C= (p.Asn1812=) | |
| 3 | g.38550879G>T | CA352140998 | SCN5A | c.5490C>A (p.Asn1830Lys) c.5493C>A (p.Asn1831Lys) c.5439C>A (p.Asn1813Lys) c.5331C>A (p.Asn1777Lys) c.5394C>A (p.Asn1798Lys) c.5364C>A (p.Asn1788Lys) c.5436C>A (p.Asn1812Lys) | |
| 3 | g.38550880T>A | CA352140999 | SCN5A | c.5489A>T (p.Asn1830Ile) c.5492A>T (p.Asn1831Ile) c.5438A>T (p.Asn1813Ile) c.5330A>T (p.Asn1777Ile) c.5393A>T (p.Asn1798Ile) c.5363A>T (p.Asn1788Ile) c.5435A>T (p.Asn1812Ile) | |
| 3 | g.38550880T>C | CA72937894 | SCN5A | c.5489A>G (p.Asn1830Ser) c.5492A>G (p.Asn1831Ser) c.5438A>G (p.Asn1813Ser) c.5330A>G (p.Asn1777Ser) c.5393A>G (p.Asn1798Ser) c.5363A>G (p.Asn1788Ser) c.5435A>G (p.Asn1812Ser) | dbSNP gnomAD v4 |
| 3 | g.38550880T>G | CA352141000 | SCN5A | c.5489A>C (p.Asn1830Thr) c.5492A>C (p.Asn1831Thr) c.5438A>C (p.Asn1813Thr) c.5330A>C (p.Asn1777Thr) c.5393A>C (p.Asn1798Thr) c.5363A>C (p.Asn1788Thr) c.5435A>C (p.Asn1812Thr) | |
| 3 | g.38550880T= | CA1358556800 | SCN5A | c.5489A= (p.Asn1830=) c.5492A= (p.Asn1831=) c.5438A= (p.Asn1813=) c.5330A= (p.Asn1777=) c.5393A= (p.Asn1798=) c.5363A= (p.Asn1788=) c.5435A= (p.Asn1812=) | |
| 3 | g.38550881T>A | CA352141001 | SCN5A | c.5488A>T (p.Asn1830Tyr) c.5491A>T (p.Asn1831Tyr) c.5437A>T (p.Asn1813Tyr) c.5329A>T (p.Asn1777Tyr) c.5392A>T (p.Asn1798Tyr) c.5362A>T (p.Asn1788Tyr) c.5434A>T (p.Asn1812Tyr) | |
| 3 | g.38550881T>C | CA352141002 | SCN5A | c.5488A>G (p.Asn1830Asp) c.5491A>G (p.Asn1831Asp) c.5437A>G (p.Asn1813Asp) c.5329A>G (p.Asn1777Asp) c.5392A>G (p.Asn1798Asp) c.5362A>G (p.Asn1788Asp) c.5434A>G (p.Asn1812Asp) | gnomAD v4 |
| 3 | g.38550881T>G | CA352141003 | SCN5A | c.5488A>C (p.Asn1830His) c.5491A>C (p.Asn1831His) c.5437A>C (p.Asn1813His) c.5329A>C (p.Asn1777His) c.5392A>C (p.Asn1798His) c.5362A>C (p.Asn1788His) c.5434A>C (p.Asn1812His) | ClinVar dbSNP |
| 3 | g.38550882G>A | CA433332182 | SCN5A | c.5487C>T (p.Pro1829=) c.5490C>T (p.Pro1830=) c.5436C>T (p.Pro1812=) c.5328C>T (p.Pro1776=) c.5391C>T (p.Pro1797=) c.5361C>T (p.Pro1787=) c.5433C>T (p.Pro1811=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550882G>C | CA433332183 | SCN5A | c.5487C>G (p.Pro1829=) c.5490C>G (p.Pro1830=) c.5436C>G (p.Pro1812=) c.5328C>G (p.Pro1776=) c.5391C>G (p.Pro1797=) c.5361C>G (p.Pro1787=) c.5433C>G (p.Pro1811=) | |
| 3 | g.38550882G= | CA1358556804 | SCN5A | c.5487C= (p.Pro1829=) c.5490C= (p.Pro1830=) c.5436C= (p.Pro1812=) c.5328C= (p.Pro1776=) c.5391C= (p.Pro1797=) c.5361C= (p.Pro1787=) c.5433C= (p.Pro1811=) | |
| 3 | g.38550882G>T | CA433332184 | SCN5A | c.5487C>A (p.Pro1829=) c.5490C>A (p.Pro1830=) c.5436C>A (p.Pro1812=) c.5328C>A (p.Pro1776=) c.5391C>A (p.Pro1797=) c.5361C>A (p.Pro1787=) c.5433C>A (p.Pro1811=) | |
| 3 | g.38550883G>A | CA352141006 | SCN5A | c.5486C>T (p.Pro1829Leu) c.5489C>T (p.Pro1830Leu) c.5435C>T (p.Pro1812Leu) c.5327C>T (p.Pro1776Leu) c.5390C>T (p.Pro1797Leu) c.5360C>T (p.Pro1787Leu) c.5432C>T (p.Pro1811Leu) | |
| 3 | g.38550883G>C | CA352141004 | SCN5A | c.5486C>G (p.Pro1829Arg) c.5489C>G (p.Pro1830Arg) c.5435C>G (p.Pro1812Arg) c.5327C>G (p.Pro1776Arg) c.5390C>G (p.Pro1797Arg) c.5360C>G (p.Pro1787Arg) c.5432C>G (p.Pro1811Arg) | gnomAD v4 |
| 3 | g.38550883G>T | CA352141005 | SCN5A | c.5486C>A (p.Pro1829His) c.5489C>A (p.Pro1830His) c.5435C>A (p.Pro1812His) c.5327C>A (p.Pro1776His) c.5390C>A (p.Pro1797His) c.5360C>A (p.Pro1787His) c.5432C>A (p.Pro1811His) | |
| 3 | g.38550884G>A | CA352141007 | SCN5A | c.5485C>T (p.Pro1829Ser) c.5488C>T (p.Pro1830Ser) c.5434C>T (p.Pro1812Ser) c.5326C>T (p.Pro1776Ser) c.5389C>T (p.Pro1797Ser) c.5359C>T (p.Pro1787Ser) c.5431C>T (p.Pro1811Ser) | |
| 3 | g.38550884G>C | CA352141008 | SCN5A | c.5485C>G (p.Pro1829Ala) c.5488C>G (p.Pro1830Ala) c.5434C>G (p.Pro1812Ala) c.5326C>G (p.Pro1776Ala) c.5389C>G (p.Pro1797Ala) c.5359C>G (p.Pro1787Ala) c.5431C>G (p.Pro1811Ala) | |
| 3 | g.38550884G= | CA1358556807 | SCN5A | c.5485C= (p.Pro1829=) c.5488C= (p.Pro1830=) c.5434C= (p.Pro1812=) c.5326C= (p.Pro1776=) c.5389C= (p.Pro1797=) c.5359C= (p.Pro1787=) c.5431C= (p.Pro1811=) | |
| 3 | g.38550884G>T | CA352141009 | SCN5A | c.5485C>A (p.Pro1829Thr) c.5488C>A (p.Pro1830Thr) c.5434C>A (p.Pro1812Thr) c.5326C>A (p.Pro1776Thr) c.5389C>A (p.Pro1797Thr) c.5359C>A (p.Pro1787Thr) c.5431C>A (p.Pro1811Thr) | ClinVar dbSNP |
| 3 | g.38550885C>A | CA352141010 | SCN5A | c.5484G>T (p.Lys1828Asn) c.5487G>T (p.Lys1829Asn) c.5433G>T (p.Lys1811Asn) c.5325G>T (p.Lys1775Asn) c.5388G>T (p.Lys1796Asn) c.5358G>T (p.Lys1786Asn) c.5430G>T (p.Lys1810Asn) | |
| 3 | g.38550885C>G | CA352141011 | SCN5A | c.5484G>C (p.Lys1828Asn) c.5487G>C (p.Lys1829Asn) c.5433G>C (p.Lys1811Asn) c.5325G>C (p.Lys1775Asn) c.5388G>C (p.Lys1796Asn) c.5358G>C (p.Lys1786Asn) c.5430G>C (p.Lys1810Asn) | |
| 3 | g.38550885C>T | CA433332188 | SCN5A | c.5484G>A (p.Lys1828=) c.5487G>A (p.Lys1829=) c.5433G>A (p.Lys1811=) c.5325G>A (p.Lys1775=) c.5388G>A (p.Lys1796=) c.5358G>A (p.Lys1786=) c.5430G>A (p.Lys1810=) | |
| 3 | g.38550886T>A | CA352141012 | SCN5A | c.5483A>T (p.Lys1828Met) c.5486A>T (p.Lys1829Met) c.5432A>T (p.Lys1811Met) c.5324A>T (p.Lys1775Met) c.5387A>T (p.Lys1796Met) c.5357A>T (p.Lys1786Met) c.5429A>T (p.Lys1810Met) | |
| 3 | g.38550886T>C | CA352141013 | SCN5A | c.5483A>G (p.Lys1828Arg) c.5486A>G (p.Lys1829Arg) c.5432A>G (p.Lys1811Arg) c.5324A>G (p.Lys1775Arg) c.5387A>G (p.Lys1796Arg) c.5357A>G (p.Lys1786Arg) c.5429A>G (p.Lys1810Arg) | |
| 3 | g.38550886T>G | CA352141014 | SCN5A | c.5483A>C (p.Lys1828Thr) c.5486A>C (p.Lys1829Thr) c.5432A>C (p.Lys1811Thr) c.5324A>C (p.Lys1775Thr) c.5387A>C (p.Lys1796Thr) c.5357A>C (p.Lys1786Thr) c.5429A>C (p.Lys1810Thr) | |
| 3 | g.38550887T>A | CA352141015 | SCN5A | c.5482A>T (p.Lys1828Ter) c.5485A>T (p.Lys1829Ter) c.5431A>T (p.Lys1811Ter) c.5323A>T (p.Lys1775Ter) c.5386A>T (p.Lys1796Ter) c.5356A>T (p.Lys1786Ter) c.5428A>T (p.Lys1810Ter) | dbSNP |
| 3 | g.38550887T>C | CA352141016 | SCN5A | c.5482A>G (p.Lys1828Glu) c.5485A>G (p.Lys1829Glu) c.5431A>G (p.Lys1811Glu) c.5323A>G (p.Lys1775Glu) c.5386A>G (p.Lys1796Glu) c.5356A>G (p.Lys1786Glu) c.5428A>G (p.Lys1810Glu) | |
| 3 | g.38550887T>G | CA352141017 | SCN5A | c.5482A>C (p.Lys1828Gln) c.5485A>C (p.Lys1829Gln) c.5431A>C (p.Lys1811Gln) c.5323A>C (p.Lys1775Gln) c.5386A>C (p.Lys1796Gln) c.5356A>C (p.Lys1786Gln) c.5428A>C (p.Lys1810Gln) | |
| 3 | g.38550887T= | CA1358556810 | SCN5A | c.5482A= (p.Lys1828=) c.5485A= (p.Lys1829=) c.5431A= (p.Lys1811=) c.5323A= (p.Lys1775=) c.5386A= (p.Lys1796=) c.5356A= (p.Lys1786=) c.5428A= (p.Lys1810=) | |
| 3 | g.38550888G>A | CA433332196 | SCN5A | c.5481C>T (p.Ala1827=) c.5484C>T (p.Ala1828=) c.5430C>T (p.Ala1810=) c.5322C>T (p.Ala1774=) c.5385C>T (p.Ala1795=) c.5355C>T (p.Ala1785=) c.5427C>T (p.Ala1809=) | dbSNP gnomAD v2 |
| 3 | g.38550888G>C | CA433332192 | SCN5A | c.5481C>G (p.Ala1827=) c.5484C>G (p.Ala1828=) c.5430C>G (p.Ala1810=) c.5322C>G (p.Ala1774=) c.5385C>G (p.Ala1795=) c.5355C>G (p.Ala1785=) c.5427C>G (p.Ala1809=) | |
| 3 | g.38550888G= | CA1358556812 | SCN5A | c.5481C= (p.Ala1827=) c.5484C= (p.Ala1828=) c.5430C= (p.Ala1810=) c.5322C= (p.Ala1774=) c.5385C= (p.Ala1795=) c.5355C= (p.Ala1785=) c.5427C= (p.Ala1809=) | |
| 3 | g.38550888G>T | CA433332189 | SCN5A | c.5481C>A (p.Ala1827=) c.5484C>A (p.Ala1828=) c.5430C>A (p.Ala1810=) c.5322C>A (p.Ala1774=) c.5385C>A (p.Ala1795=) c.5355C>A (p.Ala1785=) c.5427C>A (p.Ala1809=) | |
| 3 | g.38550889G>A | CA352141019 | SCN5A | c.5480C>T (p.Ala1827Val) c.5483C>T (p.Ala1828Val) c.5429C>T (p.Ala1810Val) c.5321C>T (p.Ala1774Val) c.5384C>T (p.Ala1795Val) c.5354C>T (p.Ala1785Val) c.5426C>T (p.Ala1809Val) | |
| 3 | g.38550889G>C | CA352141020 | SCN5A | c.5480C>G (p.Ala1827Gly) c.5483C>G (p.Ala1828Gly) c.5429C>G (p.Ala1810Gly) c.5321C>G (p.Ala1774Gly) c.5384C>G (p.Ala1795Gly) c.5354C>G (p.Ala1785Gly) c.5426C>G (p.Ala1809Gly) | |
| 3 | g.38550889G>T | CA352141018 | SCN5A | c.5480C>A (p.Ala1827Asp) c.5483C>A (p.Ala1828Asp) c.5429C>A (p.Ala1810Asp) c.5321C>A (p.Ala1774Asp) c.5384C>A (p.Ala1795Asp) c.5354C>A (p.Ala1785Asp) c.5426C>A (p.Ala1809Asp) | |
| 3 | g.38550890C>A | CA352141021 | SCN5A | c.5479G>T (p.Ala1827Ser) c.5482G>T (p.Ala1828Ser) c.5428G>T (p.Ala1810Ser) c.5320G>T (p.Ala1774Ser) c.5383G>T (p.Ala1795Ser) c.5353G>T (p.Ala1785Ser) c.5425G>T (p.Ala1809Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550890C= | CA1358556818 | SCN5A | c.5479G= (p.Ala1827=) c.5482G= (p.Ala1828=) c.5428G= (p.Ala1810=) c.5320G= (p.Ala1774=) c.5383G= (p.Ala1795=) c.5353G= (p.Ala1785=) c.5425G= (p.Ala1809=) | |
| 3 | g.38550890C>G | CA352141022 | SCN5A | c.5479G>C (p.Ala1827Pro) c.5482G>C (p.Ala1828Pro) c.5428G>C (p.Ala1810Pro) c.5320G>C (p.Ala1774Pro) c.5383G>C (p.Ala1795Pro) c.5353G>C (p.Ala1785Pro) c.5425G>C (p.Ala1809Pro) | |
| 3 | g.38550890C>T | CA019290 | SCN5A | c.5479G>A (p.Ala1827Thr) c.5482G>A (p.Ala1828Thr) c.5428G>A (p.Ala1810Thr) c.5320G>A (p.Ala1774Thr) c.5383G>A (p.Ala1795Thr) c.5353G>A (p.Ala1785Thr) c.5425G>A (p.Ala1809Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550891G>A | CA019284 | SCN5A | c.5478C>T (p.Ile1826=) c.5481C>T (p.Ile1827=) c.5427C>T (p.Ile1809=) c.5319C>T (p.Ile1773=) c.5382C>T (p.Ile1794=) c.5352C>T (p.Ile1784=) c.5424C>T (p.Ile1808=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550891G>C | CA352141023 | SCN5A | c.5478C>G (p.Ile1826Met) c.5481C>G (p.Ile1827Met) c.5427C>G (p.Ile1809Met) c.5319C>G (p.Ile1773Met) c.5382C>G (p.Ile1794Met) c.5352C>G (p.Ile1784Met) c.5424C>G (p.Ile1808Met) | |
| 3 | g.38550891G= | CA1358556828 | SCN5A | c.5478C= (p.Ile1826=) c.5481C= (p.Ile1827=) c.5427C= (p.Ile1809=) c.5319C= (p.Ile1773=) c.5382C= (p.Ile1794=) c.5352C= (p.Ile1784=) c.5424C= (p.Ile1808=) | |
| 3 | g.38550891G>T | CA433332214 | SCN5A | c.5478C>A (p.Ile1826=) c.5481C>A (p.Ile1827=) c.5427C>A (p.Ile1809=) c.5319C>A (p.Ile1773=) c.5382C>A (p.Ile1794=) c.5352C>A (p.Ile1784=) c.5424C>A (p.Ile1808=) | |
| 3 | g.38550892A>C | CA352141026 | SCN5A | c.5477T>G (p.Ile1826Ser) c.5480T>G (p.Ile1827Ser) c.5426T>G (p.Ile1809Ser) c.5318T>G (p.Ile1773Ser) c.5381T>G (p.Ile1794Ser) c.5351T>G (p.Ile1784Ser) c.5423T>G (p.Ile1808Ser) | |
| 3 | g.38550892A>G | CA352141025 | SCN5A | c.5477T>C (p.Ile1826Thr) c.5480T>C (p.Ile1827Thr) c.5426T>C (p.Ile1809Thr) c.5318T>C (p.Ile1773Thr) c.5381T>C (p.Ile1794Thr) c.5351T>C (p.Ile1784Thr) c.5423T>C (p.Ile1808Thr) | |
| 3 | g.38550892A>T | CA352141024 | SCN5A | c.5477T>A (p.Ile1826Asn) c.5480T>A (p.Ile1827Asn) c.5426T>A (p.Ile1809Asn) c.5318T>A (p.Ile1773Asn) c.5381T>A (p.Ile1794Asn) c.5351T>A (p.Ile1784Asn) c.5423T>A (p.Ile1808Asn) | |
| 3 | g.38550893T>A | CA352141027 | SCN5A | c.5476A>T (p.Ile1826Phe) c.5479A>T (p.Ile1827Phe) c.5425A>T (p.Ile1809Phe) c.5317A>T (p.Ile1773Phe) c.5380A>T (p.Ile1794Phe) c.5350A>T (p.Ile1784Phe) c.5422A>T (p.Ile1808Phe) | |
| 3 | g.38550893T>C | CA352141028 | SCN5A | c.5476A>G (p.Ile1826Val) c.5479A>G (p.Ile1827Val) c.5425A>G (p.Ile1809Val) c.5317A>G (p.Ile1773Val) c.5380A>G (p.Ile1794Val) c.5350A>G (p.Ile1784Val) c.5422A>G (p.Ile1808Val) | |
| 3 | g.38550893T>G | CA352141029 | SCN5A | c.5476A>C (p.Ile1826Leu) c.5479A>C (p.Ile1827Leu) c.5425A>C (p.Ile1809Leu) c.5317A>C (p.Ile1773Leu) c.5380A>C (p.Ile1794Leu) c.5350A>C (p.Ile1784Leu) c.5422A>C (p.Ile1808Leu) | |
| 3 | g.38550894A= | CA1358556836 | SCN5A | c.5475T= (p.Arg1825=) c.5478T= (p.Arg1826=) c.5424T= (p.Arg1808=) c.5316T= (p.Arg1772=) c.5379T= (p.Arg1793=) c.5349T= (p.Arg1783=) c.5421T= (p.Arg1807=) | |
| 3 | g.38550894A>C | CA433332221 | SCN5A | c.5475T>G (p.Arg1825=) c.5478T>G (p.Arg1826=) c.5424T>G (p.Arg1808=) c.5316T>G (p.Arg1772=) c.5379T>G (p.Arg1793=) c.5349T>G (p.Arg1783=) c.5421T>G (p.Arg1807=) | |
| 3 | g.38550894A>G | CA433332222 | SCN5A | c.5475T>C (p.Arg1825=) c.5478T>C (p.Arg1826=) c.5424T>C (p.Arg1808=) c.5316T>C (p.Arg1772=) c.5379T>C (p.Arg1793=) c.5349T>C (p.Arg1783=) c.5421T>C (p.Arg1807=) | |
| 3 | g.38550894A>T | CA16604908 | SCN5A | c.5475T>A (p.Arg1825=) c.5478T>A (p.Arg1826=) c.5424T>A (p.Arg1808=) c.5316T>A (p.Arg1772=) c.5379T>A (p.Arg1793=) c.5349T>A (p.Arg1783=) c.5421T>A (p.Arg1807=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550895C>A | CA352141030 | SCN5A | c.5474G>T (p.Arg1825Leu) c.5477G>T (p.Arg1826Leu) c.5423G>T (p.Arg1808Leu) c.5315G>T (p.Arg1772Leu) c.5378G>T (p.Arg1793Leu) c.5348G>T (p.Arg1783Leu) c.5420G>T (p.Arg1807Leu) | gnomAD v4 |
| 3 | g.38550895C= | CA1358556841 | SCN5A | c.5474G= (p.Arg1825=) c.5477G= (p.Arg1826=) c.5423G= (p.Arg1808=) c.5315G= (p.Arg1772=) c.5378G= (p.Arg1793=) c.5348G= (p.Arg1783=) c.5420G= (p.Arg1807=) | |
| 3 | g.38550895C>G | CA352141031 | SCN5A | c.5474G>C (p.Arg1825Pro) c.5477G>C (p.Arg1826Pro) c.5423G>C (p.Arg1808Pro) c.5315G>C (p.Arg1772Pro) c.5378G>C (p.Arg1793Pro) c.5348G>C (p.Arg1783Pro) c.5420G>C (p.Arg1807Pro) | |
| 3 | g.38550895C>T | CA019280 | SCN5A | c.5474G>A (p.Arg1825His) c.5477G>A (p.Arg1826His) c.5423G>A (p.Arg1808His) c.5315G>A (p.Arg1772His) c.5378G>A (p.Arg1793His) c.5348G>A (p.Arg1783His) c.5420G>A (p.Arg1807His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550896G>A | CA019274 | SCN5A | c.5473C>T (p.Arg1825Cys) c.5476C>T (p.Arg1826Cys) c.5422C>T (p.Arg1808Cys) c.5314C>T (p.Arg1772Cys) c.5377C>T (p.Arg1793Cys) c.5347C>T (p.Arg1783Cys) c.5419C>T (p.Arg1807Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550896G>C | CA352141033 | SCN5A | c.5473C>G (p.Arg1825Gly) c.5476C>G (p.Arg1826Gly) c.5422C>G (p.Arg1808Gly) c.5314C>G (p.Arg1772Gly) c.5377C>G (p.Arg1793Gly) c.5347C>G (p.Arg1783Gly) c.5419C>G (p.Arg1807Gly) | |
| 3 | g.38550896G= | CA1358556848 | SCN5A | c.5473C= (p.Arg1825=) c.5476C= (p.Arg1826=) c.5422C= (p.Arg1808=) c.5314C= (p.Arg1772=) c.5377C= (p.Arg1793=) c.5347C= (p.Arg1783=) c.5419C= (p.Arg1807=) | |
| 3 | g.38550896G>T | CA352141032 | SCN5A | c.5473C>A (p.Arg1825Ser) c.5476C>A (p.Arg1826Ser) c.5422C>A (p.Arg1808Ser) c.5314C>A (p.Arg1772Ser) c.5377C>A (p.Arg1793Ser) c.5347C>A (p.Arg1783Ser) c.5419C>A (p.Arg1807Ser) | |
| 3 | g.38550897G>A | CA433332233 | SCN5A | c.5472C>T (p.Leu1824=) c.5475C>T (p.Leu1825=) c.5421C>T (p.Leu1807=) c.5313C>T (p.Leu1771=) c.5376C>T (p.Leu1792=) c.5346C>T (p.Leu1782=) c.5418C>T (p.Leu1806=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550897G>C | CA433332235 | SCN5A | c.5472C>G (p.Leu1824=) c.5475C>G (p.Leu1825=) c.5421C>G (p.Leu1807=) c.5313C>G (p.Leu1771=) c.5376C>G (p.Leu1792=) c.5346C>G (p.Leu1782=) c.5418C>G (p.Leu1806=) | |
| 3 | g.38550897G= | CA1358556853 | SCN5A | c.5472C= (p.Leu1824=) c.5475C= (p.Leu1825=) c.5421C= (p.Leu1807=) c.5313C= (p.Leu1771=) c.5376C= (p.Leu1792=) c.5346C= (p.Leu1782=) c.5418C= (p.Leu1806=) | |
| 3 | g.38550897G>T | CA433332237 | SCN5A | c.5472C>A (p.Leu1824=) c.5475C>A (p.Leu1825=) c.5421C>A (p.Leu1807=) c.5313C>A (p.Leu1771=) c.5376C>A (p.Leu1792=) c.5346C>A (p.Leu1782=) c.5418C>A (p.Leu1806=) | |
| 3 | g.38550898A= | CA1358556858 | SCN5A | c.5471T= (p.Leu1824=) c.5474T= (p.Leu1825=) c.5420T= (p.Leu1807=) c.5312T= (p.Leu1771=) c.5375T= (p.Leu1792=) c.5345T= (p.Leu1782=) c.5417T= (p.Leu1806=) | |
| 3 | g.38550898A>C | CA352141034 | SCN5A | c.5471T>G (p.Leu1824Arg) c.5474T>G (p.Leu1825Arg) c.5420T>G (p.Leu1807Arg) c.5312T>G (p.Leu1771Arg) c.5375T>G (p.Leu1792Arg) c.5345T>G (p.Leu1782Arg) c.5417T>G (p.Leu1806Arg) | |
| 3 | g.38550898A>G | CA019266 | SCN5A | c.5471T>C (p.Leu1824Pro) c.5474T>C (p.Leu1825Pro) c.5420T>C (p.Leu1807Pro) c.5312T>C (p.Leu1771Pro) c.5375T>C (p.Leu1792Pro) c.5345T>C (p.Leu1782Pro) c.5417T>C (p.Leu1806Pro) | ClinVar dbSNP |
| 3 | g.38550898A>T | CA352141035 | SCN5A | c.5471T>A (p.Leu1824His) c.5474T>A (p.Leu1825His) c.5420T>A (p.Leu1807His) c.5312T>A (p.Leu1771His) c.5375T>A (p.Leu1792His) c.5345T>A (p.Leu1782His) c.5417T>A (p.Leu1806His) | |
| 3 | g.38550899G>A | CA352141036 | SCN5A | c.5470C>T (p.Leu1824Phe) c.5473C>T (p.Leu1825Phe) c.5419C>T (p.Leu1807Phe) c.5311C>T (p.Leu1771Phe) c.5374C>T (p.Leu1792Phe) c.5344C>T (p.Leu1782Phe) c.5416C>T (p.Leu1806Phe) | |
| 3 | g.38550899G>C | CA352141037 | SCN5A | c.5470C>G (p.Leu1824Val) c.5473C>G (p.Leu1825Val) c.5419C>G (p.Leu1807Val) c.5311C>G (p.Leu1771Val) c.5374C>G (p.Leu1792Val) c.5344C>G (p.Leu1782Val) c.5416C>G (p.Leu1806Val) | |
| 3 | g.38550899G>T | CA352141038 | SCN5A | c.5470C>A (p.Leu1824Ile) c.5473C>A (p.Leu1825Ile) c.5419C>A (p.Leu1807Ile) c.5311C>A (p.Leu1771Ile) c.5374C>A (p.Leu1792Ile) c.5344C>A (p.Leu1782Ile) c.5416C>A (p.Leu1806Ile) | |
| 3 | g.38550900T>A | CA433332241 | SCN5A | c.5469A>T (p.Pro1823=) c.5472A>T (p.Pro1824=) c.5418A>T (p.Pro1806=) c.5310A>T (p.Pro1770=) c.5373A>T (p.Pro1791=) c.5343A>T (p.Pro1781=) c.5415A>T (p.Pro1805=) | |
| 3 | g.38550900T>C | CA433332254 | SCN5A | c.5469A>G (p.Pro1823=) c.5472A>G (p.Pro1824=) c.5418A>G (p.Pro1806=) c.5310A>G (p.Pro1770=) c.5373A>G (p.Pro1791=) c.5343A>G (p.Pro1781=) c.5415A>G (p.Pro1805=) | ClinVar |
| 3 | g.38550900T>G | CA433332255 | SCN5A | c.5469A>C (p.Pro1823=) c.5472A>C (p.Pro1824=) c.5418A>C (p.Pro1806=) c.5310A>C (p.Pro1770=) c.5373A>C (p.Pro1791=) c.5343A>C (p.Pro1781=) c.5415A>C (p.Pro1805=) | dbSNP |
| 3 | g.38550900T= | CA1358556861 | SCN5A | c.5469A= (p.Pro1823=) c.5472A= (p.Pro1824=) c.5418A= (p.Pro1806=) c.5310A= (p.Pro1770=) c.5373A= (p.Pro1791=) c.5343A= (p.Pro1781=) c.5415A= (p.Pro1805=) | |
| 3 | g.38550901G>A | CA352141039 | SCN5A | c.5468C>T (p.Pro1823Leu) c.5471C>T (p.Pro1824Leu) c.5417C>T (p.Pro1806Leu) c.5309C>T (p.Pro1770Leu) c.5372C>T (p.Pro1791Leu) c.5342C>T (p.Pro1781Leu) c.5414C>T (p.Pro1805Leu) | ClinVar dbSNP |
| 3 | g.38550901G>C | CA352141040 | SCN5A | c.5468C>G (p.Pro1823Arg) c.5471C>G (p.Pro1824Arg) c.5417C>G (p.Pro1806Arg) c.5309C>G (p.Pro1770Arg) c.5372C>G (p.Pro1791Arg) c.5342C>G (p.Pro1781Arg) c.5414C>G (p.Pro1805Arg) | |
| 3 | g.38550901G= | CA1358556864 | SCN5A | c.5468C= (p.Pro1823=) c.5471C= (p.Pro1824=) c.5417C= (p.Pro1806=) c.5309C= (p.Pro1770=) c.5372C= (p.Pro1791=) c.5342C= (p.Pro1781=) c.5414C= (p.Pro1805=) | |
| 3 | g.38550901G>T | CA352141041 | SCN5A | c.5468C>A (p.Pro1823Gln) c.5471C>A (p.Pro1824Gln) c.5417C>A (p.Pro1806Gln) c.5309C>A (p.Pro1770Gln) c.5372C>A (p.Pro1791Gln) c.5342C>A (p.Pro1781Gln) c.5414C>A (p.Pro1805Gln) | |
| 3 | g.38550902G>A | CA352141042 | SCN5A | c.5467C>T (p.Pro1823Ser) c.5470C>T (p.Pro1824Ser) c.5416C>T (p.Pro1806Ser) c.5308C>T (p.Pro1770Ser) c.5371C>T (p.Pro1791Ser) c.5341C>T (p.Pro1781Ser) c.5413C>T (p.Pro1805Ser) | |
| 3 | g.38550902G>C | CA019262 | SCN5A | c.5467C>G (p.Pro1823Ala) c.5470C>G (p.Pro1824Ala) c.5416C>G (p.Pro1806Ala) c.5308C>G (p.Pro1770Ala) c.5371C>G (p.Pro1791Ala) c.5341C>G (p.Pro1781Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550902G= | CA1358556867 | SCN5A | c.5467C= (p.Pro1823=) c.5470C= (p.Pro1824=) c.5416C= (p.Pro1806=) c.5308C= (p.Pro1770=) c.5371C= (p.Pro1791=) c.5341C= (p.Pro1781=) c.5413C= (p.Pro1805=) | |
| 3 | g.38550902G>T | CA352141043 | SCN5A | c.5467C>A (p.Pro1823Thr) c.5470C>A (p.Pro1824Thr) c.5416C>A (p.Pro1806Thr) c.5308C>A (p.Pro1770Thr) c.5371C>A (p.Pro1791Thr) c.5341C>A (p.Pro1781Thr) c.5413C>A (p.Pro1805Thr) | gnomAD v4 |
| 3 | g.38550903C>A | CA352141045 | SCN5A | c.5466G>T (p.Glu1822Asp) c.5469G>T (p.Glu1823Asp) c.5415G>T (p.Glu1805Asp) c.5307G>T (p.Glu1769Asp) c.5370G>T (p.Glu1790Asp) c.5340G>T (p.Glu1780Asp) c.5412G>T (p.Glu1804Asp) | |
| 3 | g.38550903C>G | CA352141044 | SCN5A | c.5466G>C (p.Glu1822Asp) c.5469G>C (p.Glu1823Asp) c.5415G>C (p.Glu1805Asp) c.5307G>C (p.Glu1769Asp) c.5370G>C (p.Glu1790Asp) c.5340G>C (p.Glu1780Asp) c.5412G>C (p.Glu1804Asp) | |
| 3 | g.38550903C>T | CA433332264 | SCN5A | c.5466G>A (p.Glu1822=) c.5469G>A (p.Glu1823=) c.5415G>A (p.Glu1805=) c.5307G>A (p.Glu1769=) c.5370G>A (p.Glu1790=) c.5340G>A (p.Glu1780=) c.5412G>A (p.Glu1804=) | |
| 3 | g.38550904T>A | CA352141046 | SCN5A | c.5465A>T (p.Glu1822Val) c.5468A>T (p.Glu1823Val) c.5414A>T (p.Glu1805Val) c.5306A>T (p.Glu1769Val) c.5369A>T (p.Glu1790Val) c.5339A>T (p.Glu1780Val) c.5411A>T (p.Glu1804Val) | |
| 3 | g.38550904T>C | CA352141048 | SCN5A | c.5465A>G (p.Glu1822Gly) c.5468A>G (p.Glu1823Gly) c.5414A>G (p.Glu1805Gly) c.5306A>G (p.Glu1769Gly) c.5369A>G (p.Glu1790Gly) c.5339A>G (p.Glu1780Gly) c.5411A>G (p.Glu1804Gly) | |
| 3 | g.38550904T>G | CA352141047 | SCN5A | c.5465A>C (p.Glu1822Ala) c.5468A>C (p.Glu1823Ala) c.5414A>C (p.Glu1805Ala) c.5306A>C (p.Glu1769Ala) c.5369A>C (p.Glu1790Ala) c.5339A>C (p.Glu1780Ala) c.5411A>C (p.Glu1804Ala) | |
| 3 | g.38550904_38550908delinsTCAGA | CA1358556870 | SCN5A | c.5461_5465delinsTCTGA (p.Ser1821=) c.5464_5468delinsTCTGA (p.Ser1822=) c.5410_5414delinsTCTGA (p.Ser1804=) c.5302_5306delinsTCTGA (p.Ser1768=) c.5365_5369delinsTCTGA (p.Ser1789=) c.5335_5339delinsTCTGA (p.Ser1779=) c.5407_5411delinsTCTGA (p.Ser1803=) | |
| 3 | g.38550905C>A | CA352141049 | SCN5A | c.5464G>T (p.Glu1822Ter) c.5467G>T (p.Glu1823Ter) c.5413G>T (p.Glu1805Ter) c.5305G>T (p.Glu1769Ter) c.5368G>T (p.Glu1790Ter) c.5338G>T (p.Glu1780Ter) c.5410G>T (p.Glu1804Ter) | |
| 3 | g.38550905C= | CA1358556876 | SCN5A | c.5464G= (p.Glu1822=) c.5467G= (p.Glu1823=) c.5413G= (p.Glu1805=) c.5305G= (p.Glu1769=) c.5368G= (p.Glu1790=) c.5338G= (p.Glu1780=) c.5410G= (p.Glu1804=) | |
| 3 | g.38550905C>G | CA352141050 | SCN5A | c.5464G>C (p.Glu1822Gln) c.5467G>C (p.Glu1823Gln) c.5413G>C (p.Glu1805Gln) c.5305G>C (p.Glu1769Gln) c.5368G>C (p.Glu1790Gln) c.5338G>C (p.Glu1780Gln) c.5410G>C (p.Glu1804Gln) | gnomAD v4 |
| 3 | g.38550905C>T | CA064452 | SCN5A | c.5464G>A (p.Glu1822Lys) c.5467G>A (p.Glu1823Lys) c.5413G>A (p.Glu1805Lys) c.5305G>A (p.Glu1769Lys) c.5368G>A (p.Glu1790Lys) c.5338G>A (p.Glu1780Lys) c.5410G>A (p.Glu1804Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550908_38550911del | CA019255 | SCN5A | c.5461_5464del (p.Glu1822HisfsTer10) c.5464_5467del (p.Glu1823HisfsTer10) c.5410_5413del (p.Glu1805HisfsTer10) c.5302_5305del (p.Glu1769HisfsTer10) c.5365_5368del (p.Glu1790HisfsTer10) c.5335_5338del (p.Glu1780HisfsTer10) c.5407_5410del (p.Glu1804HisfsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550906A>C | CA433332269 | SCN5A | c.5463T>G (p.Ser1821=) c.5466T>G (p.Ser1822=) c.5412T>G (p.Ser1804=) c.5304T>G (p.Ser1768=) c.5367T>G (p.Ser1789=) c.5337T>G (p.Ser1779=) c.5409T>G (p.Ser1803=) | |
| 3 | g.38550906A>G | CA433332270 | SCN5A | c.5463T>C (p.Ser1821=) c.5466T>C (p.Ser1822=) c.5412T>C (p.Ser1804=) c.5304T>C (p.Ser1768=) c.5367T>C (p.Ser1789=) c.5337T>C (p.Ser1779=) c.5409T>C (p.Ser1803=) | |
| 3 | g.38550906A>T | CA433332272 | SCN5A | c.5463T>A (p.Ser1821=) c.5466T>A (p.Ser1822=) c.5412T>A (p.Ser1804=) c.5304T>A (p.Ser1768=) c.5367T>A (p.Ser1789=) c.5337T>A (p.Ser1779=) c.5409T>A (p.Ser1803=) | |
| 3 | g.38550907G>A | CA352141051 | SCN5A | c.5462C>T (p.Ser1821Phe) c.5465C>T (p.Ser1822Phe) c.5411C>T (p.Ser1804Phe) c.5303C>T (p.Ser1768Phe) c.5366C>T (p.Ser1789Phe) c.5336C>T (p.Ser1779Phe) c.5408C>T (p.Ser1803Phe) | |
| 3 | g.38550907G>C | CA352141052 | SCN5A | c.5462C>G (p.Ser1821Cys) c.5465C>G (p.Ser1822Cys) c.5411C>G (p.Ser1804Cys) c.5303C>G (p.Ser1768Cys) c.5366C>G (p.Ser1789Cys) c.5336C>G (p.Ser1779Cys) c.5408C>G (p.Ser1803Cys) | |
| 3 | g.38550907G>T | CA352141053 | SCN5A | c.5462C>A (p.Ser1821Tyr) c.5465C>A (p.Ser1822Tyr) c.5411C>A (p.Ser1804Tyr) c.5303C>A (p.Ser1768Tyr) c.5366C>A (p.Ser1789Tyr) c.5336C>A (p.Ser1779Tyr) c.5408C>A (p.Ser1803Tyr) | |
| 3 | g.38550908A>C | CA352141054 | SCN5A | c.5461T>G (p.Ser1821Ala) c.5464T>G (p.Ser1822Ala) c.5410T>G (p.Ser1804Ala) c.5302T>G (p.Ser1768Ala) c.5365T>G (p.Ser1789Ala) c.5335T>G (p.Ser1779Ala) c.5407T>G (p.Ser1803Ala) | |
| 3 | g.38550908A>G | CA352141055 | SCN5A | c.5461T>C (p.Ser1821Pro) c.5464T>C (p.Ser1822Pro) c.5410T>C (p.Ser1804Pro) c.5302T>C (p.Ser1768Pro) c.5365T>C (p.Ser1789Pro) c.5335T>C (p.Ser1779Pro) c.5407T>C (p.Ser1803Pro) | |
| 3 | g.38550908A>T | CA352141056 | SCN5A | c.5461T>A (p.Ser1821Thr) c.5464T>A (p.Ser1822Thr) c.5410T>A (p.Ser1804Thr) c.5302T>A (p.Ser1768Thr) c.5365T>A (p.Ser1789Thr) c.5335T>A (p.Ser1779Thr) c.5407T>A (p.Ser1803Thr) | ClinVar gnomAD v4 |
| 3 | g.38550909C>A | CA433332273 | SCN5A | c.5460G>T (p.Leu1820=) c.5463G>T (p.Leu1821=) c.5409G>T (p.Leu1803=) c.5301G>T (p.Leu1767=) c.5364G>T (p.Leu1788=) c.5334G>T (p.Leu1778=) c.5406G>T (p.Leu1802=) | |
| 3 | g.38550909C>G | CA433332275 | SCN5A | c.5460G>C (p.Leu1820=) c.5463G>C (p.Leu1821=) c.5409G>C (p.Leu1803=) c.5301G>C (p.Leu1767=) c.5364G>C (p.Leu1788=) c.5334G>C (p.Leu1778=) c.5406G>C (p.Leu1802=) | ClinVar |
| 3 | g.38550909C>T | CA433332276 | SCN5A | c.5460G>A (p.Leu1820=) c.5463G>A (p.Leu1821=) c.5409G>A (p.Leu1803=) c.5301G>A (p.Leu1767=) c.5364G>A (p.Leu1788=) c.5334G>A (p.Leu1778=) c.5406G>A (p.Leu1802=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550909_38550911delinsCAG | CA1358556880 | SCN5A | c.5458_5460delinsCTG (p.Leu1820=) c.5461_5463delinsCTG (p.Leu1821=) c.5407_5409delinsCTG (p.Leu1803=) c.5299_5301delinsCTG (p.Leu1767=) c.5362_5364delinsCTG (p.Leu1788=) c.5332_5334delinsCTG (p.Leu1778=) c.5404_5406delinsCTG (p.Leu1802=) | |
| 3 | g.38550910A>C | CA352141057 | SCN5A | c.5459T>G (p.Leu1820Arg) c.5462T>G (p.Leu1821Arg) c.5408T>G (p.Leu1803Arg) c.5300T>G (p.Leu1767Arg) c.5363T>G (p.Leu1788Arg) c.5333T>G (p.Leu1778Arg) c.5405T>G (p.Leu1802Arg) | |
| 3 | g.38550910A>G | CA352141058 | SCN5A | c.5459T>C (p.Leu1820Pro) c.5462T>C (p.Leu1821Pro) c.5408T>C (p.Leu1803Pro) c.5300T>C (p.Leu1767Pro) c.5363T>C (p.Leu1788Pro) c.5333T>C (p.Leu1778Pro) c.5405T>C (p.Leu1802Pro) | |
| 3 | g.38550910A>T | CA352141059 | SCN5A | c.5459T>A (p.Leu1820Gln) c.5462T>A (p.Leu1821Gln) c.5408T>A (p.Leu1803Gln) c.5300T>A (p.Leu1767Gln) c.5363T>A (p.Leu1788Gln) c.5333T>A (p.Leu1778Gln) c.5405T>A (p.Leu1802Gln) | |
| 3 | g.38550910_38550911del | CA658655809 | SCN5A | c.5458_5459del (p.Leu1820ValfsTer2) c.5461_5462del (p.Leu1821ValfsTer2) c.5407_5408del (p.Leu1803ValfsTer2) c.5299_5300del (p.Leu1767ValfsTer2) c.5362_5363del (p.Leu1788ValfsTer2) c.5332_5333del (p.Leu1778ValfsTer2) c.5404_5405del (p.Leu1802ValfsTer2) | ClinVar dbSNP |
| 3 | g.38550911G>A | CA433332280 | SCN5A | c.5458C>T (p.Leu1820=) c.5461C>T (p.Leu1821=) c.5407C>T (p.Leu1803=) c.5299C>T (p.Leu1767=) c.5362C>T (p.Leu1788=) c.5332C>T (p.Leu1778=) c.5404C>T (p.Leu1802=) | |
| 3 | g.38550911G>C | CA352141060 | SCN5A | c.5458C>G (p.Leu1820Val) c.5461C>G (p.Leu1821Val) c.5407C>G (p.Leu1803Val) c.5299C>G (p.Leu1767Val) c.5362C>G (p.Leu1788Val) c.5332C>G (p.Leu1778Val) c.5404C>G (p.Leu1802Val) | |
| 3 | g.38550911G>T | CA352141061 | SCN5A | c.5458C>A (p.Leu1820Met) c.5461C>A (p.Leu1821Met) c.5407C>A (p.Leu1803Met) c.5299C>A (p.Leu1767Met) c.5362C>A (p.Leu1788Met) c.5332C>A (p.Leu1778Met) c.5404C>A (p.Leu1802Met) | |
| 3 | g.38550913del | CA2586965760 | SCN5A | c.5458del (p.Leu1820CysfsTer13) c.5461del (p.Leu1821CysfsTer13) c.5407del (p.Leu1803CysfsTer13) c.5299del (p.Leu1767CysfsTer13) c.5362del (p.Leu1788CysfsTer13) c.5332del (p.Leu1778CysfsTer13) c.5404del (p.Leu1802CysfsTer13) | |
| 3 | g.38550912G>A | CA433332281 | SCN5A | c.5457C>T (p.Ala1819=) c.5460C>T (p.Ala1820=) c.5406C>T (p.Ala1802=) c.5298C>T (p.Ala1766=) c.5361C>T (p.Ala1787=) c.5331C>T (p.Ala1777=) c.5403C>T (p.Ala1801=) | ClinVar dbSNP |
| 3 | g.38550912G>C | CA433332283 | SCN5A | c.5457C>G (p.Ala1819=) c.5460C>G (p.Ala1820=) c.5406C>G (p.Ala1802=) c.5298C>G (p.Ala1766=) c.5361C>G (p.Ala1787=) c.5331C>G (p.Ala1777=) c.5403C>G (p.Ala1801=) | ClinVar |
| 3 | g.38550912G= | CA1358556888 | SCN5A | c.5457C= (p.Ala1819=) c.5460C= (p.Ala1820=) c.5406C= (p.Ala1802=) c.5298C= (p.Ala1766=) c.5361C= (p.Ala1787=) c.5331C= (p.Ala1777=) c.5403C= (p.Ala1801=) | |
| 3 | g.38550912G>T | CA433332284 | SCN5A | c.5457C>A (p.Ala1819=) c.5460C>A (p.Ala1820=) c.5406C>A (p.Ala1802=) c.5298C>A (p.Ala1766=) c.5361C>A (p.Ala1787=) c.5331C>A (p.Ala1777=) c.5403C>A (p.Ala1801=) | dbSNP |
| 3 | g.38550913G>A | CA352141062 | SCN5A | c.5456C>T (p.Ala1819Val) c.5459C>T (p.Ala1820Val) c.5405C>T (p.Ala1802Val) c.5297C>T (p.Ala1766Val) c.5360C>T (p.Ala1787Val) c.5330C>T (p.Ala1777Val) c.5402C>T (p.Ala1801Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550913G>C | CA352141064 | SCN5A | c.5456C>G (p.Ala1819Gly) c.5459C>G (p.Ala1820Gly) c.5405C>G (p.Ala1802Gly) c.5297C>G (p.Ala1766Gly) c.5360C>G (p.Ala1787Gly) c.5330C>G (p.Ala1777Gly) c.5402C>G (p.Ala1801Gly) | |
| 3 | g.38550913G= | CA1358556892 | SCN5A | c.5456C= (p.Ala1819=) c.5459C= (p.Ala1820=) c.5405C= (p.Ala1802=) c.5297C= (p.Ala1766=) c.5360C= (p.Ala1787=) c.5330C= (p.Ala1777=) c.5402C= (p.Ala1801=) | |
| 3 | g.38550913G>T | CA352141063 | SCN5A | c.5456C>A (p.Ala1819Asp) c.5459C>A (p.Ala1820Asp) c.5405C>A (p.Ala1802Asp) c.5297C>A (p.Ala1766Asp) c.5360C>A (p.Ala1787Asp) c.5330C>A (p.Ala1777Asp) c.5402C>A (p.Ala1801Asp) | |
| 3 | g.38550914C>A | CA352141065 | SCN5A | c.5455G>T (p.Ala1819Ser) c.5458G>T (p.Ala1820Ser) c.5404G>T (p.Ala1802Ser) c.5296G>T (p.Ala1766Ser) c.5359G>T (p.Ala1787Ser) c.5329G>T (p.Ala1777Ser) c.5401G>T (p.Ala1801Ser) | |
| 3 | g.38550914C= | CA1358556895 | SCN5A | c.5455G= (p.Ala1819=) c.5458G= (p.Ala1820=) c.5404G= (p.Ala1802=) c.5296G= (p.Ala1766=) c.5359G= (p.Ala1787=) c.5329G= (p.Ala1777=) c.5401G= (p.Ala1801=) | |
| 3 | g.38550914C>G | CA352141066 | SCN5A | c.5455G>C (p.Ala1819Pro) c.5458G>C (p.Ala1820Pro) c.5404G>C (p.Ala1802Pro) c.5296G>C (p.Ala1766Pro) c.5359G>C (p.Ala1787Pro) c.5329G>C (p.Ala1777Pro) c.5401G>C (p.Ala1801Pro) | |
| 3 | g.38550914C>T | CA019251 | SCN5A | c.5455G>A (p.Ala1819Thr) c.5458G>A (p.Ala1820Thr) c.5404G>A (p.Ala1802Thr) c.5296G>A (p.Ala1766Thr) c.5359G>A (p.Ala1787Thr) c.5329G>A (p.Ala1777Thr) c.5401G>A (p.Ala1801Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550914_38550915delinsTG | CA658796274 | SCN5A | c.5454_5455delinsCA (p.Ala1819Thr) c.5457_5458delinsCA (p.Ala1820Thr) c.5403_5404delinsCA (p.Ala1802Thr) c.5295_5296delinsCA (p.Ala1766Thr) c.5358_5359delinsCA (p.Ala1787Thr) c.5328_5329delinsCA (p.Ala1777Thr) c.5400_5401delinsCA (p.Ala1801Thr) | ClinVar |
| 3 | g.38550915A= | CA1358556908 | SCN5A | c.5454T= (p.Asp1818=) c.5457T= (p.Asp1819=) c.5403T= (p.Asp1801=) c.5295T= (p.Asp1765=) c.5358T= (p.Asp1786=) c.5328T= (p.Asp1776=) c.5400T= (p.Asp1800=) | |
| 3 | g.38550915A>C | CA352141067 | SCN5A | c.5454T>G (p.Asp1818Glu) c.5457T>G (p.Asp1819Glu) c.5403T>G (p.Asp1801Glu) c.5295T>G (p.Asp1765Glu) c.5358T>G (p.Asp1786Glu) c.5328T>G (p.Asp1776Glu) c.5400T>G (p.Asp1800Glu) | |
| 3 | g.38550915A>G | CA019243 | SCN5A | c.5454T>C (p.Asp1818=) c.5457T>C (p.Asp1819=) c.5403T>C (p.Asp1801=) c.5295T>C (p.Asp1765=) c.5358T>C (p.Asp1786=) c.5328T>C (p.Asp1776=) c.5400T>C (p.Asp1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550915A>T | CA352141068 | SCN5A | c.5454T>A (p.Asp1818Glu) c.5457T>A (p.Asp1819Glu) c.5403T>A (p.Asp1801Glu) c.5295T>A (p.Asp1765Glu) c.5358T>A (p.Asp1786Glu) c.5328T>A (p.Asp1776Glu) c.5400T>A (p.Asp1800Glu) | |
| 3 | g.38550915_38550917delinsATC | CA1358556905 | SCN5A | c.5452_5454delinsGAT (p.Asp1818=) c.5455_5457delinsGAT (p.Asp1819=) c.5401_5403delinsGAT (p.Asp1801=) c.5293_5295delinsGAT (p.Asp1765=) c.5356_5358delinsGAT (p.Asp1786=) c.5326_5328delinsGAT (p.Asp1776=) c.5398_5400delinsGAT (p.Asp1800=) | |
| 3 | g.38550915_38550917delinsGTT | CA913188086 | SCN5A | c.5452_5454delinsAAC (p.Asp1818Asn) c.5455_5457delinsAAC (p.Asp1819Asn) c.5401_5403delinsAAC (p.Asp1801Asn) c.5293_5295delinsAAC (p.Asp1765Asn) c.5356_5358delinsAAC (p.Asp1786Asn) c.5326_5328delinsAAC (p.Asp1776Asn) c.5398_5400delinsAAC (p.Asp1800Asn) | ClinVar dbSNP |
| 3 | g.38550916T>A | CA352141069 | SCN5A | c.5453A>T (p.Asp1818Val) c.5456A>T (p.Asp1819Val) c.5402A>T (p.Asp1801Val) c.5294A>T (p.Asp1765Val) c.5357A>T (p.Asp1786Val) c.5327A>T (p.Asp1776Val) c.5399A>T (p.Asp1800Val) | |
| 3 | g.38550916T>C | CA352141070 | SCN5A | c.5453A>G (p.Asp1818Gly) c.5456A>G (p.Asp1819Gly) c.5402A>G (p.Asp1801Gly) c.5294A>G (p.Asp1765Gly) c.5357A>G (p.Asp1786Gly) c.5327A>G (p.Asp1776Gly) c.5399A>G (p.Asp1800Gly) | |
| 3 | g.38550916T>G | CA352141071 | SCN5A | c.5453A>C (p.Asp1818Ala) c.5456A>C (p.Asp1819Ala) c.5402A>C (p.Asp1801Ala) c.5294A>C (p.Asp1765Ala) c.5357A>C (p.Asp1786Ala) c.5327A>C (p.Asp1776Ala) c.5399A>C (p.Asp1800Ala) |